Mercurial > repos > elixir-it > vinyl_optimizer
diff test-data/sorrentino_annotated.vcf @ 3:221db2eb3c8e draft default tip
Uploaded
| author | elixir-it |
|---|---|
| date | Wed, 22 Jul 2020 19:23:14 +0000 |
| parents | 35c308dd6420 |
| children |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/sorrentino_annotated.vcf Wed Jul 22 19:23:14 2020 +0000 @@ -0,0 +1,1461 @@ +##fileformat=VCFv4.2 +##contig=<ID=chrM,length=16571> +##contig=<ID=chr1,length=249250621> +##contig=<ID=chr2,length=243199373> +##contig=<ID=chr3,length=198022430> +##contig=<ID=chr4,length=191154276> +##contig=<ID=chr5,length=180915260> +##contig=<ID=chr6,length=171115067> +##contig=<ID=chr7,length=159138663> +##contig=<ID=chr8,length=146364022> +##contig=<ID=chr9,length=141213431> +##contig=<ID=chr10,length=135534747> +##contig=<ID=chr11,length=135006516> +##contig=<ID=chr12,length=133851895> +##contig=<ID=chr13,length=115169878> +##contig=<ID=chr14,length=107349540> +##contig=<ID=chr15,length=102531392> +##contig=<ID=chr16,length=90354753> +##contig=<ID=chr17,length=81195210> +##contig=<ID=chr18,length=78077248> +##contig=<ID=chr19,length=59128983> +##contig=<ID=chr20,length=63025520> +##contig=<ID=chr21,length=48129895> +##contig=<ID=chr22,length=51304566> +##contig=<ID=chrX,length=155270560> +##contig=<ID=chrY,length=59373566> +##INFO=<ID=MIN_DP,Number=1,Type=Integer,Description="Minimum depth in gVCF output block."> +##INFO=<ID=END,Number=1,Type=Integer,Description="Last position (inclusive) in gVCF output record."> +##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=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"> +##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"> +##source_20190808.1=vcf-merge(r953) 1060.vcf_fixed.vcf.gz 1173.vcf_fixed.vcf.gz 1392.vcf_fixed.vcf.gz 1584.vcf_fixed.vcf.gz 1657.vcf_fixed.vcf.gz 1661.vcf_fixed.vcf.gz 1662.vcf_fixed.vcf.gz 1665.vcf_fixed.vcf.gz 1666.vcf_fixed.vcf.gz 1669.vcf_fixed.vcf.gz 1674.vcf_fixed.vcf.gz 1685.vcf_fixed.vcf.gz 1708.vcf_fixed.vcf.gz 1717.vcf_fixed.vcf.gz 1718.vcf_fixed.vcf.gz 1721.vcf_fixed.vcf.gz 1739.vcf_fixed.vcf.gz 1740.vcf_fixed.vcf.gz 1741.vcf_fixed.vcf.gz 1751.vcf_fixed.vcf.gz 1776.vcf_fixed.vcf.gz 1798.vcf_fixed.vcf.gz 1801.vcf_fixed.vcf.gz 1812.vcf_fixed.vcf.gz 1816.vcf_fixed.vcf.gz 1825.vcf_fixed.vcf.gz 1830.vcf_fixed.vcf.gz 1832.vcf_fixed.vcf.gz 1833.vcf_fixed.vcf.gz 1838.vcf_fixed.vcf.gz 310.vcf_fixed.vcf.gz 365.vcf_fixed.vcf.gz 682.vcf_fixed.vcf.gz 737.vcf_fixed.vcf.gz 76.vcf_fixed.vcf.gz 968.vcf_fixed.vcf.gz 99.vcf_fixed.vcf.gz +##sourceFiles_20190808.1=0:1060.vcf_fixed.vcf.gz,1:1173.vcf_fixed.vcf.gz,2:1392.vcf_fixed.vcf.gz,3:1584.vcf_fixed.vcf.gz,4:1657.vcf_fixed.vcf.gz,5:1661.vcf_fixed.vcf.gz,6:1662.vcf_fixed.vcf.gz,7:1665.vcf_fixed.vcf.gz,8:1666.vcf_fixed.vcf.gz,9:1669.vcf_fixed.vcf.gz,10:1674.vcf_fixed.vcf.gz,11:1685.vcf_fixed.vcf.gz,12:1708.vcf_fixed.vcf.gz,13:1717.vcf_fixed.vcf.gz,14:1718.vcf_fixed.vcf.gz,15:1721.vcf_fixed.vcf.gz,16:1739.vcf_fixed.vcf.gz,17:1740.vcf_fixed.vcf.gz,18:1741.vcf_fixed.vcf.gz,19:1751.vcf_fixed.vcf.gz,20:1776.vcf_fixed.vcf.gz,21:1798.vcf_fixed.vcf.gz,22:1801.vcf_fixed.vcf.gz,23:1812.vcf_fixed.vcf.gz,24:1816.vcf_fixed.vcf.gz,25:1825.vcf_fixed.vcf.gz,26:1830.vcf_fixed.vcf.gz,27:1832.vcf_fixed.vcf.gz,28:1833.vcf_fixed.vcf.gz,29:1838.vcf_fixed.vcf.gz,30:310.vcf_fixed.vcf.gz,31:365.vcf_fixed.vcf.gz,32:682.vcf_fixed.vcf.gz,33:737.vcf_fixed.vcf.gz,34:76.vcf_fixed.vcf.gz,35:968.vcf_fixed.vcf.gz,36:99.vcf_fixed.vcf.gz +##INFO=<ID=SF,Number=.,Type=String,Description="Source File (index to sourceFiles, f when filtered)"> +##INFO=<ID=AC,Number=.,Type=Integer,Description="Allele count in genotypes"> +##INFO=<ID=AN,Number=1,Type=Integer,Description="Total number of alleles in called genotypes"> +##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 S1060 S1173 S1392 S1584 S1657 S1661 S1662 S1665 S1666 S1669 S1674 S1685 S1708 S1717 S1718 S1721 S1739 S1740 S1741 S1751 S1776 S1798 S1801 S1812 S1816 S1825 S1830 S1832 S1833 S1838 S310 S365 S682 S737 S76 S968 S99 +chr1 11905995 . C A 464.06 . AB=0.617647;ABP=7.09778;AC=1;AF=0.5;AN=2;AO=21;CIGAR=1X;DP=34;DPB=34;DPRA=0;EPP=3.94093;EPPR=3.17734;GTI=0;LEN=1;MEANALT=1;MQM=41.1429;MQMR=42;NS=1;NUMALT=1;ODDS=60.6669;PAIRED=0.952381;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=742;QR=485;RO=13;RPL=4;RPP=20.4855;RPPR=7.18621;RPR=17;RUN=1;SAF=13;SAP=5.59539;SAR=8;SF=9;SRF=8;SRP=4.51363;SRR=5;TYPE=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:GL:AO:DP:QA:QR:RO:AD . . . . . . . . . 0/1:-54.0842,0,-32.1566:21:34:742:485:13:13,21 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 11906068 . A G 969.24 . AB=0.508197;ABP=3.0459;AC=7;AF=0.5;AN=14;AO=31;CIGAR=1X;DP=517;DPB=61;DPRA=0;EPP=3.08035;EPPR=3.29983;GTI=0;LEN=1;MEANALT=1;MQM=40.2258;MQMR=42;NS=1;NUMALT=1;ODDS=164.336;PAIRED=0.935484;PAIREDR=0.966667;PAO=0;PQA=0;PQR=0;PRO=0;QA=1115;QR=1148;RO=30;RPL=18;RPP=4.76149;RPPR=13.4334;RPR=13;RUN=1;SAF=17;SAP=3.64073;SAR=14;SF=9,13,20,23,25,28,34;SRF=17;SRP=4.16842;SRR=13;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=stoploss;AAChange.refGene=NPPA:NM_006172:exon3:c.T454C:p.X152R;1000g2015aug_all=0.179113;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5065;CLNALLELEID=228268;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=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=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.595;CADD_raw_rankscore=0.253;CADD_phred=13.82;DANN_score=0.790;DANN_rankscore=0.121;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.007;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.402;Eigen-PC-raw=0.151;GenoCanyon_score=0.995;GenoCanyon_score_rankscore=0.338;integrated_fitCons_score=0.093;integrated_fitCons_score_rankscore=0.019;integrated_confidence_value=0;GERP++_RS=0.954;GERP++_RS_rankscore=0.186;phyloP100way_vertebrate=0.328;phyloP100way_vertebrate_rankscore=0.193;phyloP20way_mammalian=-0.231;phyloP20way_mammalian_rankscore=0.094;phastCons100way_vertebrate=0.998;phastCons100way_vertebrate_rankscore=0.411;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=2.125;SiPhy_29way_logOdds_rankscore=0.035;Interpro_domain=.;GTEx_V6p_gene=ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000011021.17|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000011021.17|ENSG00000242349.1|ENSG00000242349.1|ENSG00000242349.1|ENSG00000011021.17|ENSG00000242349.1;GTEx_V6p_tissue=Adipose_Subcutaneous|Adipose_Visceral_Omentum|Adrenal_Gland|Artery_Aorta|Artery_Coronary|Artery_Tibial|Brain_Anterior_cingulate_cortex_BA24|Brain_Caudate_basal_ganglia|Brain_Cerebellar_Hemisphere|Brain_Cerebellum|Brain_Cerebellum|Brain_Cortex|Brain_Frontal_Cortex_BA9|Brain_Hippocampus|Brain_Hypothalamus|Brain_Nucleus_accumbens_basal_ganglia|Brain_Putamen_basal_ganglia|Breast_Mammary_Tissue|Cells_EBV-transformed_lymphocytes|Cells_Transformed_fibroblasts|Colon_Sigmoid|Colon_Transverse|Esophagus_Gastroesophageal_Junction|Esophagus_Mucosa|Esophagus_Muscularis|Heart_Left_Ventricle|Liver|Lung|Muscle_Skeletal|Nerve_Tibial|Ovary|Pancreas|Pituitary|Prostate|Skin_Not_Sun_Exposed_Suprapubic|Skin_Sun_Exposed_Lower_leg|Small_Intestine_Terminal_Ileum|Spleen|Stomach|Testis|Testis|Thyroid|Vagina|Whole_Blood|Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1552;ExAC_nontcga_ALL=0.1407;ExAC_nontcga_AFR=0.4056;ExAC_nontcga_AMR=0.0785;ExAC_nontcga_EAS=0.0107;ExAC_nontcga_FIN=0.0755;ExAC_nontcga_NFE=0.1315;ExAC_nontcga_OTH=0.1455;ExAC_nontcga_SAS=0.1559;AF=0.2000;AF_popmax=0.4137;AF_male=0.2067;AF_female=0.1915;AF_raw=0.2001;AF_afr=0.4137;AF_sas=.;AF_amr=0.1026;AF_eas=0.0083;AF_nfe=0.1381;AF_fin=0.0785;AF_asj=0.1138;AF_oth=0.1333;non_topmed_AF_popmax=0.4146;non_neuro_AF_popmax=0.4145;non_cancer_AF_popmax=.;controls_AF_popmax=0.4130;Kaviar_AF=0.142514;Kaviar_AC=22033;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=Heart_Left_Ventricle::0.178309::-0.694342;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.212879;ALLELE_END GT:GL:AO:DP:QA:QR:RO:AD . . . . . . . . . 0/1:-77.146,0,-81.0553:31:61:1115:1148:30:30,31 . . . 0/1:-103.928,0,-92.7608:40:77:1510:1362:36 . . . . . . 0/1:-119.414,0,-115.856:47:90:1706:1655:43:43,47 . . 0/1:-78.1988,0,-75.549:30:58:1103:1075:28 . 0/1:-196.481,0,-116.761:72:120:2703:1775:48:48,72 . . 0/1:-69.0727,0,-72.3758:27:55:989:1032:28 . . . . . 0/1:-89.4417,0,-56.6879:33:56:1223:846:23 . . +chr1 11907422 . C T 1594.68 . AB=0.51938;ABP=3.43113;AC=1;AF=0.5;AN=2;AO=67;CIGAR=1X;DP=129;DPB=129;DPRA=0;EPP=5.63551;EPPR=5.25182;GTI=0;LEN=1;MEANALT=1;MQM=41.7015;MQMR=41.9677;NS=1;NUMALT=1;ODDS=356.033;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2392;QR=2301;RO=62;RPL=28;RPP=6.93191;RPPR=3.57068;RPR=39;RUN=1;SAF=46;SAP=23.2666;SAR=21;SF=28;SRF=32;SRP=3.15039;SRR=30;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NPPA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NPPA:NM_006172:exon2:c.G198A:p.P66P;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs767807184;CLNALLELEID=447193;CLNDN=Atrial_fibrillation,_familial,_6;CLNDISDB=MedGen:C2677294,OMIM:612201;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=0.0003;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.276e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0016;AF=9.557e-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=9.022e-05;non_neuro_AF_popmax=0.0001;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=Name\x3d96.113318;ALLELE_END GT:GL:AO:DP:QA:QR:RO . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-168.393,0,-161.097:67:129:2392:2301:62 . . . . . . . . +chr1 11907603 . G A 2318.85 . AB=0.459184;ABP=5.84651;AC=6;AF=0.5;AN=12;AO=90;CIGAR=1X;DP=1151;DPB=196;DPRA=0;EPP=3.87889;EPPR=29.5596;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.4528;NS=1;NUMALT=1;ODDS=479.456;PAIRED=0.988889;PAIREDR=0.981132;PAO=0;PQA=0;PQR=0;PRO=0;QA=3262;QR=3747;RO=106;RPL=14;RPP=95.7563;RPPR=67.2531;RPR=76;RUN=1;SAF=42;SAP=3.87889;SAR=48;SF=13,20,23,25,28,34;SRF=60;SRP=7.02548;SRR=46;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-225.214,0,-264.701:196:106:90:3262:3747 . . . . . . 0/1:-299.889,0,-307.29:239:120:117:4273:4373:120,117 . . 0/1:-330.41,0,-193.213:204:81:123:4505:2950 . 0/1:-348.535,0,-294.268:262:120:141:4915:4308:120,141 . . 0/1:-124.836,0,-127.592:107:52:54:1805:1846 . . . . . 0/1:-160.193,0,-204.665:143:78:65:2335:2851 . . +chr1 11907648 . C T 3636.22 . AB=0.514905;ABP=3.72235;AC=2;AF=0.5;AN=4;AO=190;CIGAR=1X;DP=555;DPB=369;DPRA=0;EPP=4.65605;EPPR=6.13332;GTI=0;LEN=1;MEANALT=2;MQM=41.6;MQMR=41.8876;NS=1;NUMALT=1;ODDS=998.841;PAIRED=0.989474;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=6875;QR=6360;RO=178;RPL=86;RPP=6.71323;RPPR=6.96287;RPR=104;RUN=1;SAF=101;SAP=4.65605;SAR=89;SF=26,35;SRF=81;SRP=6.13332;SRR=97;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-482.941,0,-441.944:369:178:190:6875:6360 . . . . . . . . 0/1:-260.728,0,-227.341:186:88:98:3658:3267 . +chr1 78383301 . T C 1349.90 . AB=0.422535;ABP=10.4117;AC=1;AF=0.5;AN=2;AO=60;CIGAR=1X;DP=142;DPB=142;DPRA=0;EPP=4.31318;EPPR=4.70511;GTI=0;LEN=1;MEANALT=1;MQM=41.4;MQMR=42;NS=1;NUMALT=1;ODDS=310.827;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2163;QR=3062;RO=82;RPL=18;RPP=23.8564;RPPR=30.1272;RPR=42;RUN=1;SAF=29;SAP=3.15506;SAR=31;SF=9;SRF=36;SRP=5.65844;SRR=46;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEXN:NM_144573:exon3:c.T78C:p.L26L;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376535223;CLNALLELEID=448242;CLNDN=Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|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=0.0005;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0026;AF=6.373e-05;AF_popmax=6.485e-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=6.485e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=9.025e-05;non_neuro_AF_popmax=7.346e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.785438;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-144.119,0,-222.172:142:82:60:2163:3062:82,60 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 78390821 . CAAAAAGT CAAAAGT 971.86 . AB=0.52381;ABP=3.42391;AC=2;AF=0.5;AN=4;AO=44;CIGAR=1M1D5M;DP=173;DPB=78;DPRA=0;EPP=15.6443;EPPR=21.525;GTI=0;LEN=1;MEANALT=3;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=210.018;PAIRED=1;PAIREDR=1;PAO=0.5;PQA=19.5;PQR=19.5;PRO=0.5;QA=1620;QR=1431;RO=38;RPL=19;RPP=4.78696;RPPR=3.9246;RPR=25;RUN=1;SAF=25;SAP=4.78696;SAR=19;SF=13,27;SRF=19;SRP=3.0103;SRR=19;TYPE=del;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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:.,.,-98.9954:84:38:44:1620:1431 . . . . . . . . . . . . . 0/1:-94.7249,0,-130.683:89:49:40:1396:1808:49,40 . . . . . . . . . +chr1 78392446 . G A 1163.31 . AB=0.407407;ABP=7.03155;AC=8;AF=0.5;AN=16;AO=22;CIGAR=1X;DP=734;DPB=54;DPRA=0;EPP=9.32731;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=111.599;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=825;QR=1201;RO=32;RPL=13;RPP=4.58955;RPPR=5.45321;RPR=9;RUN=1;SAF=8;SAP=6.56362;SAR=14;SF=6,7,8,11,13,18,29,33;SRF=17;SRP=3.28173;SRR=15;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-55.2646,0,-88.2237:54:32:22:825:1201:32,22 0/1:-138.282,0,-98.8486:92:39:53:1919:1455 0/1:-143.069,0,-87.8713:87:36:51:1959:1310 . . 0/1:-196.641,0,-140.029:129:56:73:2725:2061 . 0/1:-141.189,0,-183.657:127:71:56:2113:2561 . . . . 0/1:-99.0943,0,-51.5201:58:23:35:1348:789 . . . . . . . . . . 0/1:-163.347,0,-137.361:119:55:64:2311:2002 . . . 0/1:-53.2674,0,-125.085:68:45:23:865:1680 . . . +chr1 78395131 . A C 3236.90 . AB=0.459649;ABP=7.04086;AC=1;AF=0.5;AN=2;AO=131;CIGAR=1X;DP=285;DPB=285;DPRA=0;EPP=5.81167;EPPR=5.77399;GTI=0;LEN=1;MEANALT=1;MQM=41.9847;MQMR=41.8831;NS=1;NUMALT=1;ODDS=745.323;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4890;QR=5855;RO=154;RPL=96;RPP=64.6901;RPPR=12.5422;RPR=35;RUN=1;SAF=57;SAP=7.8008;SAR=74;SF=17;SRF=62;SRP=15.7007;SRR=92;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEXN:NM_001172309:exon8:c.A803C:p.E268A,NEXN:NM_144573:exon9:c.A995C:p.E332A;1000g2015aug_all=0.00319489;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201763096;CLNALLELEID=57079;CLNDN=Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.027;SIFT_converted_rankscore=0.496;SIFT_pred=D;Polyphen2_HDIV_score=0.003;Polyphen2_HDIV_rankscore=0.102;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.114;LRT_converted_rankscore=0.193;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=3.075;MutationAssessor_score_rankscore=0.874;MutationAssessor_pred=M;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-3.02;PROVEAN_converted_rankscore=0.626;PROVEAN_pred=D;VEST3_score=0.175;VEST3_rankscore=0.320;MetaSVM_score=-0.439;MetaSVM_rankscore=0.708;MetaSVM_pred=T;MetaLR_score=0.303;MetaLR_rankscore=0.675;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.157;REVEL_rankscore=0.414;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.628;CADD_raw_rankscore=0.493;CADD_phred=23.2;DANN_score=0.992;DANN_rankscore=0.559;fathmm-MKL_coding_score=0.935;fathmm-MKL_coding_rankscore=0.581;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.323;Eigen-PC-raw=0.349;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=4.98;GERP++_RS_rankscore=0.655;phyloP100way_vertebrate=4.103;phyloP100way_vertebrate_rankscore=0.573;phyloP20way_mammalian=0.202;phyloP20way_mammalian_rankscore=0.252;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.742;phastCons20way_mammalian_rankscore=0.319;SiPhy_29way_logOdds=13.199;SiPhy_29way_logOdds_rankscore=0.590;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0024;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0015;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0071;ExAC_nontcga_NFE=0.0025;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0126;AF=0.0025;AF_popmax=0.0035;AF_male=0.0023;AF_female=0.0028;AF_raw=0.0025;AF_afr=0.0005;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0032;AF_fin=0.0055;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0032;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0042;Kaviar_AF=0.0036222;Kaviar_AC=560;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.799664;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-338.006,0,-419.028:285:154:131:4890:5855 . . . . . . . . . . . . . . . . . . . +chr1 78401656 . TAGAAGAAGAGC TAGAAGAGC 2240.45 . AB=0.47619;ABP=4.04433;AC=1;AF=0.5;AN=2;AO=100;CIGAR=1M3D8M;DP=210;DPB=185;DPRA=0;EPP=22.5536;EPPR=115.189;GTI=0;LEN=3;MEANALT=5;MQM=41.22;MQMR=41.6792;NS=1;NUMALT=1;ODDS=515.883;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3437;QR=3943;RO=106;RPL=68;RPP=31.1526;RPPR=3.09224;RPR=32;RUN=1;SAF=39;SAP=13.5202;SAR=61;SF=10;SRF=46;SRP=7.02548;SRR=60;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=NEXN:NM_001172309:exon10:c.1209_1211del:p.403_404del,NEXN:NM_144573:exon11:c.1401_1403del:p.467_468del;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517846;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;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=0.0002;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.261e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0002;AF=9.575e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.196e-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=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;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\x3d99.769611;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-236.498,0,-277.85:210:106:100:3437:3943:106,100 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 112321032 . T A 3814.19 . AB=0.586572;ABP=21.4333;AC=6;AF=0.5;AN=10;AO=166;CIGAR=1X;DP=1056;DPB=283;DPRA=0;EPP=30.69;EPPR=14.61;GTI=0;LEN=1;MEANALT=1;MQM=41.7952;MQMR=42;NS=1;NUMALT=1;ODDS=627.598;PAIRED=1;PAIREDR=0.991453;PAO=0;PQA=0;PQR=0;PRO=0;QA=5999;QR=4244;RO=117;RPL=70;RPP=11.8532;RPPR=7.18621;RPR=96;RUN=1;SAF=80;SAP=3.48122;SAR=86;SF=11,16,23,30,36;SRF=53;SRP=5.25601;SRR=64;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-433.515,0,-282.928:283:117:166:5999:4244 . . . . 0/1:-225.863,0,-214.934:168:83:85:3210:3067:83,85 . . . . . . 0/1:-364.622,0,-246.616:231:97:133:5028:3657 . . . . . . 0/1:-268.128,0,-169.651:169:70:99:3701:2544 . . . . . 1/1:-663.815,-61.7112,0:205:0:205:7679:0 +chr1 112329551 . G T 2899.37 . AB=0.530466;ABP=5.2596;AC=9;AF=0.5;AN=18;AO=148;CIGAR=1X;DP=2236;DPB=279;DPRA=0;EPP=3.5385;EPPR=4.35297;GTI=0;LEN=1;MEANALT=1;MQM=41.7365;MQMR=41.6565;NS=1;NUMALT=1;ODDS=712.676;PAIRED=1;PAIREDR=0.984733;PAO=0;PQA=0;PQR=0;PRO=0;QA=5349;QR=4805;RO=131;RPL=31;RPP=111.525;RPPR=46.1248;RPR=117;RUN=1;SAF=108;SAP=70.8541;SAR=40;SF=11,12,14,17,18,19,20,25,32;SRF=101;SRP=86.5705;SRR=30;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-378.236,0,-329.802:279:131:148:5349:4805 0/1:-343.557,0,-357.605:275:137:136:4963:5094:137,136 . 0/1:-154.973,0,-240.991:154:89:65:2336:3315 . . 0/1:-357.018,0,-379.072:288:149:139:5135:5380 0/1:-162.298,0,-207.772:140:77:63:2358:2887 0/1:-422.66,0,-278.819:274:115:159:5874:4239 0/1:-316.498,0,-349.94:258:133:125:4594:4942:133,125 . . . . 0/1:-468.233,0,-513.343:388:203:185:6754:7311:203,185 . . . . . . 0/1:-220.179,0,-251.298:180:94:86:3173:3530 . . . . +chr1 112524680 . C G 3786.83 . AB=0.530744;ABP=5.5472;AC=1;AF=0.5;AN=2;AO=164;CIGAR=1X;DP=309;DPB=309;DPRA=0;EPP=4.91696;EPPR=3.38993;GTI=0;LEN=1;MEANALT=3;MQM=39.9085;MQMR=41.5944;NS=1;NUMALT=1;ODDS=775.059;PAIRED=0.914634;PAIREDR=0.958042;PAO=0;PQA=0;PQR=0;PRO=0;QA=5747;QR=5103;RO=143;RPL=65;RPP=18.3165;RPPR=59.5141;RPR=99;RUN=1;SAF=77;SAP=4.33437;SAR=87;SF=11;SRF=75;SRP=3.75437;SRR=68;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-387.808,0,-349.69:309:143:164:5747:5103 . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 112524788 . G A 9661.17 . AB=0.449489;ABP=22.5338;AC=1;AF=0.5;AN=2;AO=396;CIGAR=1X;DP=881;DPB=881;DPRA=0;EPP=3.0103;EPPR=3.23059;GTI=0;LEN=1;MEANALT=2;MQM=41.8258;MQMR=40.913;NS=1;NUMALT=1;ODDS=2224.57;PAIRED=0.982323;PAIREDR=0.921325;PAO=0;PQA=0;PQR=0;PRO=0;QA=14413;QR=17187;RO=483;RPL=238;RPP=38.1048;RPPR=32.5073;RPR=158;RUN=1;SAF=214;SAP=8.62542;SAR=182;SF=12;SRF=264;SRP=12.1143;SRR=219;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCND3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCND3:NM_004980:exon2:c.C561T:p.Y187Y,KCND3:NM_172198:exon2:c.C561T:p.Y187Y;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs764474190;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.741302;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-979.835,0,-1209:881:483:396:14413:17187:483,396 . . . . . . . . . . . . . . . . . . . . . . . . +chr1 112525085 . G A 9683.29 . AB=0.49284;ABP=3.38344;AC=8;AF=0.5;AN=16;AO=413;CIGAR=1X;DP=5838;DPB=838;DPRA=0;EPP=4.90837;EPPR=15.2778;GTI=0;LEN=1;MEANALT=1;MQM=41.937;MQMR=42;NS=1;NUMALT=1;ODDS=2482.14;PAIRED=0.995157;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=15485;QR=15479;RO=425;RPL=204;RPP=3.14175;RPPR=19.6106;RPR=209;RUN=1;SAF=195;SAP=5.79168;SAR=218;SF=5,7,9,13,15,17,19,32;SRF=198;SRP=7.30726;SRR=227;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1086.27,0,-1093.69:838:425:413:15485:15479:425,413 . 0/1:-1036.45,0,-960.325:784:383:400:14765:13814 . 0/1:-879.683,0,-718.936:619:286:332:12414:10414:286,332 . . . 0/1:-1064.68,0,-874.666:763:354:409:15006:12686 . 0/1:-975.87,0,-917.806:753:369:384:13986:13159 . 0/1:-999.05,0,-794.782:707:323:383:14024:11578 . 0/1:-1034.86,0,-891.616:750:356:393:14632:12858 . . . . . . . . . . . . 0/1:-750.201,0,-843.397:624:327:294:10825:11858 . . . . +chr1 116243868 . A G 6351.89 . AB=0.390335;ABP=31.1103;AC=4;AF=0.5;AN=6;AO=105;CIGAR=1X;DP=1011;DPB=269;DPRA=0;EPP=18.0865;EPPR=14.9269;GTI=0;LEN=1;MEANALT=1;MQM=41.9619;MQMR=41.75;NS=1;NUMALT=1;ODDS=536.946;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3987;QR=6066;RO=164;RPL=21;RPP=85.092;RPPR=115.079;RPR=84;RUN=1;SAF=87;SAP=101.471;SAR=18;SF=3,23,26;SRF=133;SRP=140.766;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-263.455,0,-443.334:269:164:105:3987:6066:164,105 . . . . . . . . . . . . . . . . . . . 0/1:-342.121,0,-379.641:273:143:130:4908:5334 . . 1/1:-1467.99,-140.28,0:469:0:466:17081:0 . . . . . . . . . . +chr1 116243877 . G A 5438.23 . AB=0.429508;ABP=16.1744;AC=29;AF=0.5;AN=44;AO=131;CIGAR=1X;DP=7069;DPB=305;DPRA=0;EPP=11.7791;EPPR=24.11;GTI=0;LEN=1;MEANALT=2;MQM=41.9847;MQMR=42;NS=1;NUMALT=1;ODDS=687.29;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4849;QR=6455;RO=173;RPL=29;RPP=91.3445;RPPR=157.662;RPR=102;RUN=1;SAF=106;SAP=111.766;SAR=25;SF=0,2,5,8,9,11,12,14,16,17,19,20,21,22,25,27,28,30,32,33,34,36;SRF=138;SRP=136.173;SRR=35;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-328.312,0,-467.348:305:173:131:4849:6455:173,131 . 1/1:-1080.3,-102.651,0:342:0:341:12546:0 . . 0/1:-422.708,0,-414.085:322:159:162:6008:5903:159,162 . . 1/1:-734.098,-69.5379,0:231:0:231:8490:0 0/1:-377.104,0,-401.018:301:155:146:5403:5706:155,146 . 0/1:-483.731,0,-584.225:421:228:192:7063:8204 0/1:-505.527,0,-596.879:426:227:199:7314:8439:227,199 . 0/1:-310.678,0,-327.616:249:128:121:4450:4672 . 0/1:-422.769,0,-401.121:319:155:163:5994:5749:155,163 0/1:-436.895,0,-494.88:362:189:172:6306:6972 . 1/1:-934.431,-87.6989,0:299:1:297:10810:29 0/1:-434.093,0,-538.832:377:201:174:6317:7554:201,174 0/1:-498.547,0,-102.051:235:55:179:6562:2000:55,179 1/1:-760.495,-63.6182,0:246:3:242:8886:116 . . 1/1:-1619.22,-153.525,0:511:0:510:18763:0:0,510 . 0/1:-509.23,0,-676.146:467:257:209:7517:9449:257,209 0/1:-393.904,0,-260.016:261:109:150:5440:3893 . 1/1:-851.315,-77.3964,0:269:1:268:9888:37 . 0/1:-334.734,0,-357.837:268:136:130:4797:5089 1/1:-864.536,-82.1812,0:274:0:273:10034:0 0/1:-353.596,0,-365.644:275:139:136:5035:5174 . 0/1:-391.431,0,-399.853:309:151:157:5615:5698 +chr1 116245655 . G C 5038.92 . AB=0.554377;ABP=12.6926;AC=16;AF=0.5;AN=28;AO=209;CIGAR=1X;DP=4983;DPB=377;DPRA=0;EPP=9.50394;EPPR=13.1438;GTI=0;LEN=1;MEANALT=1;MQM=41.5024;MQMR=41.7619;NS=1;NUMALT=1;ODDS=936.444;PAIRED=0.966507;PAIREDR=0.994048;PAO=0;PQA=0;PQR=0;PRO=0;QA=7600;QR=6299;RO=168;RPL=172;RPP=192.365;RPPR=127.146;RPR=37;RUN=1;SAF=88;SAP=14.3248;SAR=121;SF=0,2,8,9,14,16,19,20,21,25,27,28,30,32;SRF=67;SRP=17.9521;SRR=101;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-540.366,0,-430.334:377:168:209:7600:6299:168,209 . 1/1:-1293.61,-123.545,0:437:3:434:15060:89 . . . . . 1/1:-1012.31,-96.9317,0:323:0:322:11679:0 0/1:-309.041,0,-490.167:323:186:136:4776:6806:186,136 . . . . 0/1:-353.848,0,-376.891:286:145:141:5075:5346 . 0/1:-620.105,0,-542.816:449:210:238:8718:7848:210,238 . . 0/1:-439.243,0,-376.416:321:146:175:6171:5494 0/1:-563.111,0,-646.264:474:250:224:8154:9205:250,224 0/1:-127.149,0,-358.934:191:131:60:2121:4802:131,60 . . . 0/1:-550.233,0,-746.312:513:285:226:8113:10400:285,226 . 0/1:-530.206,0,-544.981:422:213:209:7570:7754:213,209 0/1:-281.95,0,-300.309:234:117:117:4050:4285 . 0/1:-402.75,0,-405.486:318:156:162:5766:5794 . 0/1:-450.872,0,-347.224:315:139:175:6281:5107 . . . . +chr1 116247790 . G A 3235.25 . AB=0.54023;ABP=4.23331;AC=28;AF=0.5;AN=50;AO=47;CIGAR=1X;DP=5527;DPB=87;DPRA=0;EPP=4.16534;EPPR=4.96463;GTI=0;LEN=1;MEANALT=1;MQM=41.617;MQMR=41.95;NS=1;NUMALT=1;ODDS=200.739;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1697;QR=1387;RO=40;RPL=20;RPP=5.27418;RPPR=13.6505;RPR=27;RUN=1;SAF=29;SAP=8.60069;SAR=18;SF=1,3,4,5,6,9,11,12,13,14,17,19,21,22,24,25,27,28,29,30,31,33,34,35,36;SRF=26;SRP=10.8276;SRR=14;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-121.29,0,-95.0995:87:40:47:1697:1387 . 0/1:-243.558,0,-305.008:220:122:98:3599:4256:122,98 0/1:-453.614,0,-273.901:291:120:171:6236:4177 0/1:-441.057,0,-337.082:305:137:168:6140:4924:137,168 0/1:-291.145,0,-221.302:203:91:112:4054:3237:91,112 . . 0/1:-253.03,0,-238.343:192:95:97:3578:3394:95,97 . 0/1:-365.74,0,-305.782:287:132:155:5192:4491 0/1:-402.517,0,-351.019:297:140:157:5656:5060:140,157 0/1:-378.485,0,-320.291:283:134:147:5343:4643 0/1:-219.787,0,-233.334:178:93:85:3147:3298 . . 0/1:-360.736,0,-383.904:299:152:146:5190:5433 . 0/1:-329.839,0,-286.079:250:116:134:4672:4148 . 0/1:-195.984,0,-66.7371:112:35:77:2645:1146:35,77 1/1:-399.49,-40.037,0:133:0:133:4585:0 . 0/1:-200.519,0,-146.203:140:63:77:2794:2152:63,77 0/1:-458.417,0,-415.849:349:171:178:6516:5979:171,178 . 0/1:-410.554,0,-388.986:328:163:165:5911:5596:163,165 0/1:-213.614,0,-220.329:176:89:87:3066:3124 0/1:-420.679,0,-413.314:339:171:167:6035:5903 0/1:-189.308,0,-193.587:153:78:74:2739:2778 0/1:-184.798,0,-144.147:131:59:72:2577:2101 . 1/1:-668.902,-63.8184,0:212:0:212:7707:0 0/1:-264.636,0,-232.93:200:95:104:3741:3370 0/1:-179.562,0,-135.367:125:57:68:2499:1980 1/1:-741.003,-71.3441,0:237:0:237:8587:0 +chr1 116247824 . C T 3636.74 . AB=0.557823;ABP=7.27939;AC=3;AF=0.5;AN=4;AO=82;CIGAR=1X;DP=323;DPB=147;DPRA=0;EPP=5.65844;EPPR=3.04371;GTI=0;LEN=1;MEANALT=1;MQM=41.7561;MQMR=41.9692;NS=1;NUMALT=1;ODDS=349.547;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2831;QR=2336;RO=65;RPL=39;RPP=3.434;RPPR=3.04371;RPR=43;RUN=1;SAF=31;SAP=13.6028;SAR=51;SF=21,22;SRF=38;SRP=7.05258;SRR=27;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CASQ2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CASQ2:NM_001232:exon9:c.G928A:p.D310N;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs141314684;CLNALLELEID=172473;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.118;SIFT_converted_rankscore=0.281;SIFT_pred=T;Polyphen2_HDIV_score=0.485;Polyphen2_HDIV_rankscore=0.350;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.235;Polyphen2_HVAR_rankscore=0.367;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=1.82;MutationAssessor_score_rankscore=0.479;MutationAssessor_pred=L;FATHMM_score=-1.33;FATHMM_converted_rankscore=0.799;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.061;VEST3_rankscore=0.045;MetaSVM_score=-0.397;MetaSVM_rankscore=0.721;MetaSVM_pred=T;MetaLR_score=0.335;MetaLR_rankscore=0.702;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.501;M-CAP_pred=D;REVEL_score=0.385;REVEL_rankscore=0.705;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.702;CADD_raw_rankscore=0.630;CADD_phred=24.6;DANN_score=0.999;DANN_rankscore=0.949;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_rankscore=0.697;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.275;Eigen-PC-raw=0.409;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=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=5.812;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=0.745;phastCons20way_mammalian_rankscore=0.320;SiPhy_29way_logOdds=19.172;SiPhy_29way_logOdds_rankscore=0.935;Interpro_domain=Thioredoxin-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;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0011;AF=9.552e-05;AF_popmax=0.0012;AF_male=5.723e-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;AF_fin=0;AF_asj=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;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\x3d99.872344;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-201.707,0,-158.839:147:65:82:2831:2336:65,82 1/1:-537.074,-50.1025,0:176:1:175:6206:29 . . . . . . . . . . . . . . +chr1 116260532 . A T 7258.18 . AB=0.535176;ABP=7.28777;AC=46;AF=0.5;AN=64;AO=213;CIGAR=1X;DP=11195;DPB=398;DPRA=0;EPP=21.8603;EPPR=15.7926;GTI=0;LEN=1;MEANALT=1;MQM=41.7465;MQMR=42;NS=1;NUMALT=1;ODDS=1084.7;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7979;QR=7002;RO=185;RPL=76;RPP=40.9448;RPPR=43.8692;RPR=137;RUN=1;SAF=99;SAP=5.30411;SAR=114;SF=0,1,2,3,4,5,6,8,9,11,12,13,14,16,17,18,19,20,21,22,24,25,27,28,29,30,31,32,33,34,35,36;SRF=87;SRP=4.43056;SRR=98;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-569.173,0,-484.156:398:185:213:7979:7002:185,213 0/1:-136.122,0,-238.22:141:85:56:2068:3252 1/1:-1219.84,-117.402,0:391:0:390:14146:0 0/1:-424.903,0,-477.528:342:177:164:6098:6746:177,164 0/1:-555.124,0,-684.368:470:252:218:8043:9569 0/1:-588.319,0,-697.229:493:260:232:8560:9823:260,232 0/1:-353.416,0,-466.824:311:171:140:5153:6492:171,140 . 1/1:-849.438,-80.074,0:266:0:266:9810:0 1/1:-1125.07,-105.963,0:352:0:352:12986:0:0,352 . 0/1:-556.283,0,-536.245:424:207:217:7884:7676 1/1:-1658.89,-156.837,0:521:0:521:19227:0:0,521 0/1:-473.775,0,-615.1:418:229:189:6915:8595 1/1:-886.624,-83.6863,0:278:0:278:10231:0 . 0/1:-601.9,0,-530.289:430:203:227:8481:7717:203,227 0/1:-556.49,0,-533.117:412:202:210:7856:7616 0/1:-327.743,0,-283.651:234:109:125:4591:4105 1/1:-1221.3,-115.596,0:385:0:384:14127:0 0/1:-625.337,0,-587.673:465:222:240:8850:8441:222,240 1/1:-598.674,-58.3998,0:194:0:194:6919:0:0,194 1/1:-611.671,-59.0019,0:196:0:196:7040:0 . 0/1:-256.993,0,-277.053:204:105:99:3671:3915:105,99 1/1:-1588.05,-151.117,0:502:0:502:18350:0:0,502 . 1/1:-1299.74,-125.53,0:419:0:417:15059:0:0,417 1/1:-754.493,-69.7277,0:244:1:243:8781:39 0/1:-622.3,0,-559.375:466:217:249:8809:8110 1/1:-1005.15,-94.5234,0:314:0:314:11619:0 0/1:-360.441,0,-255.37:234:100:134:4966:3773 0/1:-481.374,0,-405.33:341:156:184:6737:5878 1/1:-1209.9,-115.596,0:385:0:384:13964:0 0/1:-480.376,0,-396.483:332:151:181:6707:5752 0/1:-226.722,0,-292.313:197:108:89:3300:4076 1/1:-1377.65,-129.75,0:436:1:435:16000:15 +chr1 116260544 . C T 6433.45 . AB=0.526316;ABP=5.41035;AC=25;AF=0.5;AN=40;AO=210;CIGAR=1X;DP=7358;DPB=399;DPRA=0;EPP=33.1627;EPPR=27.4509;GTI=0;LEN=1;MEANALT=2;MQM=41.8286;MQMR=42;NS=1;NUMALT=1;ODDS=1119.17;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7886;QR=7147;RO=188;RPL=89;RPP=13.5988;RPPR=5.9672;RPR=121;RUN=1;SAF=95;SAP=7.14644;SAR=115;SF=0,2,5,8,9,11,14,16,17,19,20,21,25,27,28,30,32,33,34,36;SRF=87;SRP=5.27418;SRR=101;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-559.25,0,-496.395:399:188:210:7886:7147:188,210 . 1/1:-1220.73,-108.915,0:386:2:382:14278:76 . . 0/1:-582.688,0,-687.557:488:260:227:8520:9682:260,227 . . 1/1:-837.334,-76.7691,0:260:1:259:9724:15 0/1:-430.733,0,-471.798:342:177:164:6181:6652:177,164 . 0/1:-550.175,0,-543.872:420:208:212:7850:7751 . . 0/1:-340.782,0,-378.221:273:139:134:4887:5335 . 0/1:-596.628,0,-523.559:425:199:223:8425:7616:199,223 0/1:-536.894,0,-514.316:395:195:200:7604:7334 . 1/1:-1225.47,-114.993,0:382:0:382:14242:0 0/1:-618.611,0,-584.85:454:221:232:8786:8363:221,232 0/1:-89.1417,0,-396.815:190:143:47:1718:5240:143,47 . . . 1/1:-1579.04,-148.408,0:494:0:493:18325:0:0,493 . 0/1:-522.589,0,-520.583:410:205:204:7533:7459:205,204 0/1:-279.922,0,-346.522:242:130:112:4084:4867 . 0/1:-371.536,0,-468.976:323:177:144:5423:6557 . 0/1:-487.246,0,-397.107:340:156:182:6827:5771 1/1:-1224.93,-114.692,0:381:0:381:14191:0 0/1:-467.41,0,-384.116:322:148:173:6544:5571 . 0/1:-581.449,0,-529.744:432:207:224:8293:7673 +chr1 116268178 . GAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC GAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAGAAAGAGCTTC 542.94 . 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2/3:-139.448,.,.,-75.0957,.,-54.4944,-73.5172,.,0,-52.0128,.,.,.,.,.,.,.,.,.,.,.:259:2:.,41,44,.,.:.,1077,1105,.,.:65:2,41,44 . 1/2:-138.224,-70.2667,-51.8206,-75.2698,0,-57.4258,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:235:1:38,36,.,.,.:1026,970,.,.,.:32:1,38,36 1/1:.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:92:1:23,.,.,.,.:513,.,.,.,.:36 . . . . 1/3:.,.,-9.6798,.,.,.,.,0,.,-12.0739,.,.,.,.,.,.,.,.,.,.,.:80:0:20,.,17,.,.:459,.,440,.,.:0 . . . +chr1 116280971 . G C 2469.36 . AB=0.486111;ABP=3.37221;AC=1;AF=0.5;AN=2;AO=105;CIGAR=1X;DP=216;DPB=216;DPRA=0;EPP=5.51266;EPPR=6.87947;GTI=0;LEN=1;MEANALT=2;MQM=41.981;MQMR=41.9636;NS=1;NUMALT=1;ODDS=568.592;PAIRED=0.990476;PAIREDR=0.963636;PAO=0;PQA=0;PQR=0;PRO=0;QA=3752;QR=3963;RO=110;RPL=78;RPP=56.8008;RPPR=69.4179;RPR=27;RUN=1;SAF=36;SAP=25.5316;SAR=69;SF=9;SRF=40;SRP=20.7769;SRR=70;TYPE=snp;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=rs199939582;CLNALLELEID=53333;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,_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=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0049;AF=0.0003;AF_popmax=0.0024;AF_male=0.0002;AF_female=0.0004;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=0.0009;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0006856;Kaviar_AC=106;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.161937;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-261.627,0,-279.465:216:110:105:3752:3963:110,105 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 116283343 . A G 5629.36 . AB=0.550218;ABP=8.0265;AC=60;AF=0.5;AN=68;AO=126;CIGAR=1X;DP=7124;DPB=229;DPRA=0;EPP=5.49198;EPPR=3.20004;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6311;NS=1;NUMALT=1;ODDS=550.536;PAIRED=0.992063;PAIREDR=0.980583;PAO=0;PQA=0;PQR=0;PRO=0;QA=4704;QR=3708;RO=103;RPL=40;RPP=39.4772;RPPR=53.6288;RPR=86;RUN=1;SAF=71;SAP=7.42218;SAR=55;SF=0,1,3,4,5,6,7,8,10,11,12,13,14,15,16,17,18,19,20,21,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=60;SRP=9.10307;SRR=43;TYPE=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=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:GL:DP:RO:AO:QA:QR:AD 0/1:-337.9,0,-252.032:229:103:126:4704:3708:103,126 1/1:-267.533,-25.5876,0:85:0:85:3083:0 . 1/1:-553.164,-51.4761,0:172:0:171:6396:0:0,171 1/1:-741.472,-69.2369,0:230:0:230:8602:0 1/1:-769.855,-71.9462,0:239:0:239:8902:0:0,239 1/1:-619.869,-58.3998,0:194:0:194:7167:0:0,194 1/1:-817.466,-78.2678,0:260:0:260:9490:0 0/1:-167.316,0,-251.645:162:94:68:2499:3467 . 1/1:-644.893,-60.206,0:200:0:200:7469:0:0,200 1/1:-983.74,-93.3193,0:311:0:310:11380:0 1/1:-949.023,-89.7069,0:298:0:298:11016:0:0,298 1/1:-803.297,-77.9668,0:259:0:259:9298:0 0/1:-209.488,0,-224.414:169:87:82:3005:3208 1/1:-612.993,-58.7009,0:199:0:195:7139:0 0/1:-320.265,0,-296.564:238:117:120:4528:4265:117,120 1/1:-710.946,-66.8287,0:224:0:222:8233:0 1/1:-489.95,-45.7566,0:152:0:152:5659:0 0/1:-284.176,0,-200.007:187:81:106:3930:2953 1/1:-924.171,-84.2463,0:292:1:291:10787:38:1,291 0/1:-26.1174,0,-245.169:107:87:19:668:3191:87,19 . 1/1:-903.01,-84.2884,0:280:0:280:10439:0 1/1:-322.643,-30.0092,0:105:1:104:3736:16:1,104 1/1:-1002.08,-96.9317,0:322:0:322:11644:0:0,322 1/1:-869.974,-83.6863,0:279:0:278:10062:0 1/1:-813.199,-77.0637,0:256:0:256:9399:0:0,256 0/1:-199.491,0,-181.521:148:70:76:2812:2597 1/1:-933.029,-89.7069,0:299:0:298:10786:0 1/1:-594.618,-55.9916,0:186:0:186:6861:0 1/1:-515.9,-49.0679,0:163:0:163:5948:0 0/1:-175.643,0,-285.328:180:107:73:2651:3912 1/1:-469.048,-43.6494,0:148:0:145:5425:0 1/1:-665.754,-63.2163,0:211:0:210:7695:0 1/1:-449.893,-41.8432,0:139:0:139:5193:0 1/1:-646.153,-60.507,0:201:0:201:7494:0 +chr1 116310967 . T C 5773.83 . AB=0.467626;ABP=4.27569;AC=35;AF=0.5;AN=56;AO=65;CIGAR=1X;DP=9634;DPB=139;DPRA=0;EPP=3.31097;EPPR=22.847;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=367.587;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2401;QR=2752;RO=74;RPL=38;RPP=7.05258;RPPR=17.2129;RPR=27;RUN=1;SAF=41;SAP=12.665;SAR=24;SF=1,2,3,4,5,6,7,8,9,12,13,14,17,18,19,20,21,22,25,27,28,29,30,31,33,34,35,36;SRF=58;SRP=54.7735;SRR=16;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-167.347,0,-197.497:139:74:65:2401:2752 0/1:-427.79,0,-533.729:388:208:180:6248:7495 0/1:-391.226,0,-460.054:334:176:157:5662:6461:176,157 0/1:-477.874,0,-523.156:396:205:191:6859:7398 0/1:-472.69,0,-574.19:409:215:192:6840:8033:215,192 0/1:-326.574,0,-290.021:246:114:132:4607:4189:114,132 0/1:-520.533,0,-608.754:449:237:211:7578:8588 0/1:-281.591,0,-442.52:286:167:119:4242:6171 0/1:-256.939,0,-461.433:280:170:110:3916:6320:170,110 . . 0/1:-601.542,0,-715.444:519:275:243:8722:10039:275,243 0/1:-516.754,0,-579.8:440:227:213:7464:8210 0/1:-390.368,0,-351.254:286:135:151:5478:5040 . . 0/1:-502.932,0,-492.381:391:192:198:7132:7026 0/1:-323.806,0,-353.517:261:135:126:4625:4973 0/1:-365.515,0,-402.602:303:157:146:5248:5681 0/1:-445.784,0,-509.379:370:193:177:6403:7158:193,177 0/1:-404.883,0,-157.895:228:72:155:5429:2604:72,155 1/1:-692.09,-62.0625,0:229:2:227:8008:75 . . 1/1:-1826.91,-173.945,0:590:1:588:21046:38:1,588 . 1/1:-1531.72,-147.092,0:501:1:500:17670:39:1,500 0/1:-348.638,0,-348.488:278:141:137:4966:5017 0/1:-707.572,0,-689.914:582:283:293:10127:9988 0/1:-396.849,0,-367.318:294:141:153:5573:5255 1/1:-863.079,-85.4925,0:284:0:284:9893:0 . 1/1:-906.878,-88.8039,0:295:0:295:10428:0 1/1:-942.407,-90.008,0:299:0:299:10826:0 0/1:-268.483,0,-213.808:195:87:108:3768:3127 1/1:-1138.23,-108.973,0:362:0:362:13079:0 +chr1 156084760 . C T 1715.80 . AB=0.482143;ABP=3.47562;AC=1;AF=0.5;AN=2;AO=81;CIGAR=1X;DP=168;DPB=168;DPRA=0;EPP=39.7109;EPPR=67.9298;GTI=0;LEN=1;MEANALT=1;MQM=41.7778;MQMR=41.7586;NS=1;NUMALT=1;ODDS=395.079;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3000;QR=3084;RO=87;RPL=0;RPP=178.9;RPPR=191.928;RPR=81;RUN=1;SAF=59;SAP=39.7109;SAR=22;SF=23;SRF=69;SRP=67.9298;SRR=18;TYPE=snp;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,OREG1259368|N/A|SMARCA4|PAZAR,OREG1228955|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.741400;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-208.848,0,-218.445:168:87:81:3000:3084 . . . . . . . . . . . . . +chr1 156104779 . G T 3105.61 . AB=0.544304;ABP=7.05089;AC=1;AF=0.5;AN=2;AO=129;CIGAR=1X;DP=237;DPB=237;DPRA=0;EPP=7.87507;EPPR=3.09072;GTI=0;LEN=1;MEANALT=1;MQM=41.0155;MQMR=41.787;NS=1;NUMALT=1;ODDS=575.116;PAIRED=0.992248;PAIREDR=0.981481;PAO=0;PQA=0;PQR=0;PRO=0;QA=4753;QR=3929;RO=108;RPL=103;RPP=102.814;RPPR=26.2531;RPR=26;RUN=1;SAF=34;SAP=65.6463;SAR=95;SF=11;SRF=22;SRP=85.3654;SRR=86;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0565096;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11264444;CLNALLELEID=45142;CLNDN=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|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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: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=0.0007;ExAC_nontcga_ALL=0.0167;ExAC_nontcga_AFR=0.1826;ExAC_nontcga_AMR=0.0075;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0086;ExAC_nontcga_SAS=0.0009;AF=0.0532;AF_popmax=0.1886;AF_male=0.0555;AF_female=0.0503;AF_raw=0.0532;AF_afr=0.1886;AF_sas=.;AF_amr=0.0130;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0;AF_oth=0.0083;non_topmed_AF_popmax=0.1887;non_neuro_AF_popmax=0.1999;non_cancer_AF_popmax=.;controls_AF_popmax=0.1943;Kaviar_AF=0.0159442;Kaviar_AC=2465;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.425619;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-335.246,0,-267.864:237:108:129:4753:3929 . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 156105028 . T C 922.43 . AB=0.494624;ABP=3.03365;AC=11;AF=0.5;AN=22;AO=46;CIGAR=1X;DP=994;DPB=93;DPRA=0;EPP=12.2627;EPPR=4.16534;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=245.27;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1627;QR=1762;RO=47;RPL=23;RPP=3.0103;RPPR=31.8863;RPR=23;RUN=1;SAF=17;SAP=9.80795;SAR=29;SF=0,4,5,8,9,12,13,14,24,29,31;SRF=23;SRP=3.0565;SRR=24;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-113.993,0,-125.188:93:47:46:1627:1762:47,46 . . . 0/1:-102.971,0,-192.474:114:72:42:1581:2610 0/1:-166.179,0,-100.375:106:43:63:2276:1537:43,63 . . 0/1:-76.0732,0,-152.128:89:57:32:1179:2058 0/1:-125.014,0,-116.874:95:47:48:1764:1672:47,48 . . 0/1:-135.274,0,-176.363:122:66:55:1968:2454:66,55 0/1:-100.976,0,-125.426:90:49:41:1466:1754 0/1:-81.3367,0,-113.973:79:45:34:1201:1585 . . . . . . . . . 0/1:-39.4289,0,-62.9623:39:23:16:583:857:23,16 . . . . 0/1:-101.937,0,-150.906:102:60:42:1520:2099 . 0/1:-62.6161,0,-96.7139:65:39:26:940:1337 . . . . . +chr1 156105928 . G A 3398.14 . AB=0.564885;ABP=12.5913;AC=10;AF=0.5;AN=20;AO=148;CIGAR=1X;DP=2831;DPB=262;DPRA=0;EPP=3.5385;EPPR=3.49071;GTI=0;LEN=1;MEANALT=2;MQM=41.9865;MQMR=41.8142;NS=1;NUMALT=1;ODDS=625.924;PAIRED=1;PAIREDR=0.99115;PAO=0;PQA=0;PQR=0;PRO=0;QA=5263;QR=4162;RO=113;RPL=82;RPP=6.76636;RPPR=13.1759;RPR=66;RUN=1;SAF=51;SAP=34.0565;SAR=97;SF=0,4,5,8,12,13,14,24,29,31;SRF=39;SRP=26.5506;SRR=74;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-380.055,0,-282.971:262:113:148:5263:4162:113,148 . . . 0/1:-466.602,0,-352.093:329:147:182:6533:5218 0/1:-386.367,0,-469.209:338:182:155:5643:6551:182,155 . . 0/1:-274.362,0,-219.04:199:91:108:3864:3196 . . . 0/1:-482.91,0,-542.125:419:217:198:7067:7681:217,198 0/1:-318.756,0,-391.827:290:157:132:4671:5507 0/1:-289.24,0,-245.709:213:100:112:4056:3555 . . . . . . . . . 0/1:-196.98,0,-110.261:120:47:73:2679:1676:47,73 . . . . 0/1:-492.466,0,-663.423:479:271:208:7433:9354 . 0/1:-212.511,0,-234.45:182:95:87:3069:3310 . . . . . +chr1 156106185 . T C 7255.10 . AB=0.492754;ABP=3.29354;AC=11;AF=0.5;AN=22;AO=306;CIGAR=1X;DP=6393;DPB=621;DPRA=0;EPP=3.0103;EPPR=3.70185;GTI=0;LEN=1;MEANALT=2;MQM=41.9739;MQMR=42;NS=1;NUMALT=1;ODDS=1763.08;PAIRED=0.993464;PAIREDR=0.993631;PAO=0;PQA=0;PQR=0;PRO=0;QA=11097;QR=11571;RO=314;RPL=118;RPP=37.7822;RPPR=14.0751;RPR=188;RUN=1;SAF=153;SAP=3.0103;SAR=153;SF=0,4,5,8,9,11,12,14,24,29,31;SRF=159;SRP=3.12095;SRR=155;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-776.734,0,-814.999:621:314:306:11097:11571:314,306 . . . 0/1:-904.309,0,-897.44:697:347:348:12847:12804 0/1:-1040.95,0,-1029.59:803:397:406:14814:14694:397,406 . . 0/1:-641.777,0,-549.264:465:215:250:9042:7963 0/1:-590.342,0,-633.498:479:247:232:8507:9000:247,232 . 0/1:-752.249,0,-846.753:654:337:312:10909:12013 0/1:-1008.11,0,-1069.23:807:411:396:14476:15185:411,396 . 0/1:-499.174,0,-530.084:402:205:195:7163:7513 . . . . . . . . . 0/1:-410.562,0,-484.378:347:184:163:5931:6814:184,163 . . . . 0/1:-1011.08,0,-923.484:776:368:403:14353:13393 . 0/1:-448.408,0,-421.175:342:167:175:6347:6047 . . . . . +chr1 156106863 . C T 3835.76 . AB=0.512635;ABP=3.39442;AC=11;AF=0.5;AN=22;AO=142;CIGAR=1X;DP=3742;DPB=277;DPRA=0;EPP=7.96493;EPPR=5.72866;GTI=0;LEN=1;MEANALT=1;MQM=41.6127;MQMR=42;NS=1;NUMALT=1;ODDS=735.218;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4705;QR=4773;RO=135;RPL=68;RPP=3.56081;RPPR=3.15506;RPR=74;RUN=1;SAF=62;SAP=7.96493;SAR=80;SF=0,4,5,8,9,12,13,14,24,29,31;SRF=58;SRP=8.81698;SRR=77;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-327.225,0,-332.327:277:135:142:4705:4773:135,142 . . . 0/1:-462.281,0,-543.624:420:219:200:6791:7719 0/1:-503.507,0,-567.535:448:231:216:7320:8065:231,216 . . 0/1:-366.888,0,-320.07:294:132:159:5342:4703 0/1:-393.201,0,-380.415:325:155:168:5627:5508:155,168 . . 0/1:-499.975,0,-481.306:417:199:215:7189:6970:199,215 0/1:-501.065,0,-579.222:466:242:222:7341:8253 0/1:-242.267,0,-296.303:226:117:108:3549:4245 . . . . . . . . . 0/1:-161.461,0,-205.061:154:82:71:2375:2885:82,71 . . . . 0/1:-610.179,0,-542.99:510:241:267:8776:8028 . 0/1:-251.013,0,-239.146:205:101:104:3584:3449 . . . . . +chr1 156106964 . C T 1792.14 . AB=0.480263;ABP=3.5246;AC=1;AF=0.5;AN=2;AO=73;CIGAR=1X;DP=152;DPB=152;DPRA=0;EPP=28.0269;EPPR=4.35716;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=412.656;PAIRED=1;PAIREDR=0.987342;PAO=0;PQA=0;PQR=0;PRO=0;QA=2699;QR=2893;RO=79;RPL=44;RPP=9.70319;RPPR=12.9331;RPR=29;RUN=1;SAF=29;SAP=9.70319;SAR=44;SF=24;SRF=43;SRP=4.35716;SRR=36;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=LMNA:NM_001257374:exon9:c.C1213T:p.Q405X,LMNA:NM_001282626:exon9:c.C1549T:p.Q517X,LMNA:NM_005572:exon9:c.C1549T:p.Q517X,LMNA:NM_170707:exon9:c.C1549T:p.Q517X,LMNA:NM_170708:exon9:c.C1549T:p.Q517X,LMNA:NM_001282624:exon10:c.C1306T:p.Q436X,LMNA:NM_001282625:exon12:c.C1549T:p.Q517X;1000g2015aug_all=.;GWAS=rs76719272|Systolic-blood-pressure|0.2394|2E-10|PMID:30224653;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=0.000;LRT_converted_rankscore=0.537;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=13.679;CADD_raw_rankscore=0.993;CADD_phred=43;DANN_score=0.997;DANN_rankscore=0.815;fathmm-MKL_coding_score=0.980;fathmm-MKL_coding_rankscore=0.783;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.195;Eigen-PC-raw=1.058;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=5.7;GERP++_RS_rankscore=0.886;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=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=17.320;SiPhy_29way_logOdds_rankscore=0.871;Interpro_domain=Lamin_Tail_Domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.543040;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-188.459,0,-205.272:152:79:73:2699:2893:79,73 . . . . . . . . . . . . +chr1 156107534 . C T 4648.48 . AB=0.455696;ABP=5.70403;AC=14;AF=0.5;AN=24;AO=72;CIGAR=1X;DP=3624;DPB=158;DPRA=0;EPP=3.49285;EPPR=3.24022;GTI=0;LEN=1;MEANALT=2;MQM=41.375;MQMR=40.7529;NS=1;NUMALT=1;ODDS=371.905;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2520;QR=2808;RO=85;RPL=52;RPP=33.8935;RPPR=41.8669;RPR=20;RUN=1;SAF=32;SAP=4.9405;SAR=40;SF=1,6,7,10,21,22,25,26,27,28,33,34;SRF=45;SRP=3.64897;SRR=40;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-171.42,0,-195.597:158:85:72:2520:2808 . . . . 0/1:-337.765,0,-317.005:268:133:135:4819:4618:133,135 0/1:-550.086,0,-557.539:461:232:223:7951:8032 . . 0/1:-358.973,0,-348.93:297:146:150:5243:5096:146,150 . . . . . . . . . . 0/1:-125.109,0,-208.437:144:87:57:1941:2884:87,57 0/1:-121.667,0,-264.297:162:104:57:1960:3595 . . 1/1:-1596.86,-155.934,0:524:0:518:18449:0:0,518 0/1:-345.614,0,-519.905:373:213:156:5340:7328 1/1:-1210.69,-115.008,0:420:3:412:14196:114:3,412 0/1:-277.492,0,-245.017:223:107:115:3987:3606 . . . . 0/1:-364.122,0,-377.152:312:158:153:5273:5443 0/1:-306.844,0,-346.916:282:146:134:4539:5008 . . +chr1 156108976 . G C 893.11 . AB=0.434211;ABP=5.8675;AC=11;AF=0.5;AN=22;AO=33;CIGAR=1X;DP=930;DPB=76;DPRA=0;EPP=4.65535;EPPR=7.10075;GTI=0;LEN=1;MEANALT=1;MQM=41.4545;MQMR=42;NS=1;NUMALT=1;ODDS=163.235;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1204;QR=1607;RO=43;RPL=28;RPP=37.8197;RPPR=51.5402;RPR=5;RUN=1;SAF=14;SAP=4.65535;SAR=19;SF=0,4,5,8,9,12,13,14,24,29,31;SRF=20;SRP=3.46479;SRR=23;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-80.8148,0,-116.869:76:43:33:1204:1607:43,33 . . . 0/1:-101.26,0,-127.696:90:49:39:1477:1770 0/1:-140.288,0,-138.217:108:54:54:1994:1973:54,54 . . 0/1:-103.965,0,-94.6757:80:37:41:1495:1360 0/1:-109.499,0,-51.8369:64:23:41:1479:828:23,41 . . 0/1:-135.57,0,-181.135:127:71:56:2012:2580:71,56 0/1:-112.624,0,-105.133:86:41:45:1628:1506 0/1:-85.5973,0,-70.0734:62:28:34:1199:1044 . . . . . . . . . 0/1:-25.2888,0,-81.6541:42:30:12:433:1081:30,12 . . . . 0/1:-137.877,0,-169.264:132:72:59:2108:2440 . 0/1:-77.6509,0,-75.6998:63:31:31:1109:1083 . . . . . +chr1 162313735 . C T 7377.83 . AB=0.474419;ABP=5.45447;AC=23;AF=0.5;AN=34;AO=204;CIGAR=1X;DP=6356;DPB=430;DPRA=0;EPP=10.206;EPPR=19.9593;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9823;NS=1;NUMALT=1;ODDS=1192.43;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7577;QR=8395;RO=226;RPL=99;RPP=3.3935;RPPR=18.3836;RPR=105;RUN=1;SAF=90;SAP=9.14152;SAR=114;SF=0,4,6,14,18,19,20,21,22,23,26,29,30,32,33,34,36;SRF=103;SRP=6.85361;SRR=123;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-526.652,0,-597.693:430:226:204:7577:8395:226,204 . . . 0/1:-702.055,0,-502.564:459:199:260:9739:7409 . 1/1:-1051.17,-99.0389,0:329:0:329:12149:0:0,329 . . . . . . . 0/1:-309.192,0,-280.754:231:110:119:4369:4035 . . . 0/1:-387.538,0,-359.796:289:140:148:5477:5150 1/1:-1394.36,-124.891,0:438:2:435:16235:75 0/1:-584.153,0,-620.912:467:237:227:8444:8778:237,227 0/1:-96.8302,0,-343.471:173:124:48:1725:4568:124,48 0/1:-256.692,0,-253.725:205:99:103:3722:3625 0/1:-609.886,0,-452.386:412:180:232:8499:6669 . . 0/1:-559.005,0,-566.144:458:228:228:8085:8163 . . 1/1:-1632.19,-157.193,0:530:1:526:18939:16 0/1:-421.726,0,-561.292:383:215:168:6202:7890 . 0/1:-488.565,0,-490.348:384:191:191:6969:6980 1/1:-1290.81,-123.422,0:413:0:410:14915:0 1/1:-1084.89,-100.991,0:341:1:339:12560:15 . 1/1:-1291.21,-119.494,0:414:2:410:14963:51 +chr1 162335256 . C T 4216.02 . AB=0.53277;ABP=7.42211;AC=14;AF=0.5;AN=26;AO=252;CIGAR=1X;DP=4342;DPB=473;DPRA=0;EPP=3.872;EPPR=6.23763;GTI=0;LEN=1;MEANALT=2;MQM=41.6905;MQMR=41.9083;NS=1;NUMALT=1;ODDS=1194.01;PAIRED=0.984127;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8985;QR=7675;RO=218;RPL=101;RPP=24.5527;RPPR=3.05014;RPR=151;RUN=1;SAF=116;SAP=6.45708;SAR=136;SF=7,8,14,15,18,20,21,22,23,28,31,32,33;SRF=100;SRP=6.23763;SRR=118;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-637.91,0,-526.969:473:218:252:8985:7675 0/1:-393.057,0,-431.941:326:169:155:5648:6084 . . . . . 0/1:-324.002,0,-405.068:283:155:128:4715:5631 0/1:-573.13,0,-539.614:446:220:226:8164:7777 . . 0/1:-343.739,0,-279.109:246:111:134:4809:4056 . 0/1:-493.443,0,-653.487:455:253:202:7264:9100:253,202 0/1:-78.1965,0,-395.725:190:144:46:1551:5212:144,46 0/1:-199.579,0,-257.713:189:99:88:2934:3607 0/1:-585.412,0,-561.786:450:219:231:8317:8010 . . . . 0/1:-330.206,0,-341.58:269:135:134:4715:4852 . . 1/1:-723.384,-71.0431,0:236:0:236:8319:0 0/1:-519.125,0,-542.281:417:213:203:7446:7664 0/1:-411.145,0,-506.487:362:197:164:5995:7068 . . . +chr1 201328705 . G A 2688.83 . AB=0.574879;ABP=13.0914;AC=3;AF=0.5;AN=6;AO=119;CIGAR=1X;DP=599;DPB=207;DPRA=0;EPP=6.09416;EPPR=4.58955;GTI=0;LEN=1;MEANALT=1;MQM=41.6975;MQMR=41.7955;NS=1;NUMALT=1;ODDS=464.99;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4290;QR=3181;RO=88;RPL=39;RPP=33.6846;RPPR=34.9902;RPR=80;RUN=1;SAF=70;SAP=11.0575;SAR=49;SF=6,18,34;SRF=56;SRP=17.2236;SRR=32;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-307.572,0,-214.254:207:88:119:4290:3181:88,119 . . . . . . . . . . . 0/1:-185.908,0,-217.288:159:85:74:2699:3040 . . . . . . . . . . . . . . . 0/1:-347.413,0,-234.627:233:96:137:4803:3495 . . +chr1 201328824 . G A 6154.62 . AB=0.512658;ABP=3.66999;AC=9;AF=0.5;AN=18;AO=243;CIGAR=1X;DP=4464;DPB=474;DPRA=0;EPP=10.5256;EPPR=17.3082;GTI=0;LEN=1;MEANALT=1;MQM=41.9918;MQMR=41.9091;NS=1;NUMALT=1;ODDS=1308.12;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9052;QR=8529;RO=231;RPL=197;RPP=206.762;RPPR=159.441;RPR=46;RUN=1;SAF=98;SAP=22.7501;SAR=145;SF=3,11,15,20,23,30,32,33,36;SRF=94;SRP=20.3915;SRR=137;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-640.311,0,-595.12:474:231:243:9052:8529:231,243 . . . . . . . 0/1:-665.486,0,-753.874:564:296:266:9637:10702 . . . 0/1:-666.573,0,-645.847:516:256:260:9510:9264 . . . . 0/1:-838.304,0,-705.536:591:274:317:11759:10228:274,317 . . 0/1:-735.717,0,-688.786:543:263:279:10403:9877 . . . . . . 0/1:-567.443,0,-570.23:441:220:221:8129:8123 . 0/1:-560.839,0,-544.3:423:208:215:7969:7764 0/1:-489.922,0,-564.362:409:217:192:7072:7930 . . 0/1:-641.164,0,-666.556:503:254:249:9176:9478 +chr1 201330366 . G C 2658.25 . AB=0.516129;ABP=3.50063;AC=1;AF=0.5;AN=2;AO=112;CIGAR=1X;DP=217;DPB=217;DPRA=0;EPP=4.25114;EPPR=3.19643;GTI=0;LEN=1;MEANALT=1;MQM=41.6071;MQMR=41.4762;NS=1;NUMALT=1;ODDS=574.123;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4072;QR=3888;RO=105;RPL=17;RPP=120.968;RPPR=113.218;RPR=95;RUN=1;SAF=69;SAP=16.1167;SAR=43;SF=3;SRF=70;SRP=28.3441;SRR=35;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0579073;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2275862;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0233;ExAC_nontcga_AFR=0.0298;ExAC_nontcga_AMR=0.0204;ExAC_nontcga_EAS=0.1983;ExAC_nontcga_FIN=0.0070;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0.0173;ExAC_nontcga_SAS=0.0130;AF=0.0216;AF_popmax=0.1997;AF_male=0.0237;AF_female=0.0189;AF_raw=0.0217;AF_afr=0.0296;AF_sas=.;AF_amr=0.0236;AF_eas=0.1997;AF_nfe=0.0025;AF_fin=0.0109;AF_asj=0;AF_oth=0.0120;non_topmed_AF_popmax=0.1975;non_neuro_AF_popmax=0.1997;non_cancer_AF_popmax=.;controls_AF_popmax=0.2015;Kaviar_AF=0.0210799;Kaviar_AC=3259;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.503750;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-286.807,0,-270.562:217:105:112:4072:3888:105,112 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 201330429 . T C 4694.70 . AB=0.505405;ABP=3.1042;AC=1;AF=0.5;AN=2;AO=187;CIGAR=1X;DP=370;DPB=370;DPRA=0;EPP=8.13126;EPPR=13.7484;GTI=0;LEN=1;MEANALT=2;MQM=41.9037;MQMR=41.989;NS=1;NUMALT=1;ODDS=1067.86;PAIRED=0.994652;PAIREDR=0.994505;PAO=0;PQA=0;PQR=0;PRO=0;QA=6847;QR=6761;RO=182;RPL=60;RPP=55.1372;RPPR=20.2389;RPR=127;RUN=1;SAF=99;SAP=4.41537;SAR=88;SF=32;SRF=94;SRP=3.43982;SRR=88;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-482.521,0,-473.691:370:182:187:6847:6761 . . . . +chr1 201331256 . G A 650.02 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=37;CIGAR=1X;DP=74;DPB=74;DPRA=0;EPP=34.0565;EPPR=16.2152;GTI=0;LEN=1;MEANALT=1;MQM=40.9459;MQMR=40.8919;NS=1;NUMALT=1;ODDS=149.673;PAIRED=1;PAIREDR=0.972973;PAO=0;PQA=0;PQR=0;PRO=0;QA=1150;QR=1218;RO=37;RPL=11;RPP=16.2152;RPPR=5.88603;RPR=26;RUN=1;SAF=29;SAP=28.8919;SAR=8;SF=29;SRF=25;SRP=12.9286;SRR=12;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373805222;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0030;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0040;ExAC_nontcga_OTH=0.0025;ExAC_nontcga_SAS=0.0040;AF=0.0009;AF_popmax=0.0014;AF_male=0.0010;AF_female=0.0009;AF_raw=0.0009;AF_afr=0.0001;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0014;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0009;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0018823;Kaviar_AC=291;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.911288;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-77.9195,0,-83.0838:74:37:37:1150:1218 . . . . . . . +chr1 201334382 . G A 9703.30 . AB=0;ABP=0;AC=59;AF=1;AN=74;AO=361;CIGAR=1X;DP=14850;DPB=361;DPRA=0;EPP=17.4527;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9945;MQMR=0;NS=1;NUMALT=1;ODDS=505.057;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=13538;QR=0;RO=0;RPL=205;RPP=17.4527;RPPR=0;RPR=156;RUN=1;SAF=163;SAP=10.3789;SAR=198;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1170.71,-108.672,0:361:0:361:13538:0:0,361 1/1:-455.257,-42.4452,0:141:0:141:5285:0 1/1:-1400.39,-133.055,0:442:0:442:16235:0 0/1:-482.598,0,-494.192:375:189:186:6880:7001:189,186 1/1:-1486.21,-139.979,0:466:0:465:17234:0 0/1:-758.224,0,-775.742:584:297:287:10809:11015:297,287 1/1:-1056.9,-99.3399,0:330:0:330:12225:0:0,330 0/1:-759.398,0,-702.596:564:272:290:10735:10057 1/1:-1212.67,-112.886,0:375:0:375:14062:0 1/1:-1061.64,-95.9272,0:338:2:336:12350:62:2,336 0/1:-547.896,0,-585.046:441:226:213:7876:8307:226,213 0/1:-553.748,0,-596.861:454:235:219:7980:8488 1/1:-1857.76,-174.597,0:580:0:580:21516:0:0,580 0/1:-616.522,0,-558.916:453:216:237:8720:8033 1/1:-1161.86,-108.371,0:360:0:360:13438:0 1/1:-1393.25,-130.79,0:440:1:438:16172:16 0/1:-523.285,0,-547.371:406:208:198:7484:7725:208,198 1/1:-1498.09,-136.319,0:469:2:466:17404:52 0/1:-371.812,0,-372.029:284:143:141:5285:5270 1/1:-1537.39,-144.795,0:481:0:481:17806:0 1/1:-1683.99,-156.536,0:521:0:520:19486:0:0,520 0/1:-87.0195,0,-347.414:173:127:46:1595:4606:127,46 0/1:-235.311,0,-253.647:194:100:94:3384:3591 1/1:-1475.68,-136.367,0:454:0:453:17086:0 0/1:-237.385,0,-256.079:189:98:91:3399:3602:98,91 1/1:-2019.23,-190.552,0:633:0:633:23394:0:0,633 0/1:-685.699,0,-642.761:529:255:271:9777:9241 1/1:-1577.78,-149.913,0:498:0:498:18264:0:0,498 1/1:-841.062,-77.2186,0:269:1:267:9745:39 1/1:-1986.84,-189.348,0:629:0:629:23030:0 1/1:-1080.64,-100.544,0:334:0:334:12498:0 0/1:-367.059,0,-389.79:293:151:142:5256:5501 0/1:-493.64,0,-524.54:393:201:191:7074:7408 1/1:-1137.97,-105.963,0:352:0:352:13156:0 1/1:-1167.3,-108.973,0:362:0:362:13495:0 1/1:-780.029,-72.2472,0:240:0:240:9026:0 0/1:-481.775,0,-658.395:443:250:192:7124:9143 +chr1 201334425 . C T 3838.29 . AB=0.517241;ABP=3.75908;AC=1;AF=0.5;AN=2;AO=150;CIGAR=1X;DP=290;DPB=290;DPRA=0;EPP=5.84769;EPPR=6.05036;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=796.144;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5607;QR=5135;RO=140;RPL=98;RPP=33.6425;RPPR=38.7465;RPR=52;RUN=1;SAF=52;SAP=33.6425;SAR=98;SF=16;SRF=55;SRP=16.9698;SRR=85;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNT2:NM_001001432:exon8:c.G260A:p.R87Q,TNNT2:NM_001001430:exon9:c.G275A:p.R92Q,TNNT2:NM_001001431:exon9:c.G275A:p.R92Q,TNNT2:NM_001276347:exon9:c.G275A:p.R92Q,TNNT2:NM_000364:exon10:c.G305A:p.R102Q,TNNT2:NM_001276345:exon10:c.G305A:p.R102Q;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs121964856;CLNALLELEID=27448;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;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=0.996;Polyphen2_HVAR_rankscore=0.832;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=A;MutationAssessor_score=2.76;MutationAssessor_score_rankscore=0.809;MutationAssessor_pred=M;FATHMM_score=-5.44;FATHMM_converted_rankscore=0.991;FATHMM_pred=D;PROVEAN_score=-2.83;PROVEAN_converted_rankscore=0.709;PROVEAN_pred=D;VEST3_score=0.897;VEST3_rankscore=0.893;MetaSVM_score=1.113;MetaSVM_rankscore=0.999;MetaSVM_pred=D;MetaLR_score=0.964;MetaLR_rankscore=0.989;MetaLR_pred=D;M-CAP_score=0.678;M-CAP_rankscore=0.973;M-CAP_pred=D;REVEL_score=0.740;REVEL_rankscore=0.911;MutPred_score=0.437;MutPred_rankscore=0.491;CADD_raw=7.867;CADD_raw_rankscore=0.956;CADD_phred=35;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.933;fathmm-MKL_coding_rankscore=0.575;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.622;Eigen-PC-raw=0.612;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.626;integrated_fitCons_score_rankscore=0.397;integrated_confidence_value=0;GERP++_RS=5.02;GERP++_RS_rankscore=0.666;phyloP100way_vertebrate=4.057;phyloP100way_vertebrate_rankscore=0.569;phyloP20way_mammalian=0.014;phyloP20way_mammalian_rankscore=0.141;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=18.347;SiPhy_29way_logOdds_rankscore=0.902;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.931119;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-397.259,0,-358:290:140:150:5607:5135:140,150 . . . . . . . . . . . . . . . . . . . . +chr1 201334795 . C T 6177.30 . AB=0.513514;ABP=3.89063;AC=9;AF=0.5;AN=18;AO=285;CIGAR=1X;DP=4458;DPB=555;DPRA=0;EPP=21.304;EPPR=10.2485;GTI=0;LEN=1;MEANALT=1;MQM=41.8386;MQMR=41.9778;NS=1;NUMALT=1;ODDS=1565.57;PAIRED=0.996491;PAIREDR=0.996296;PAO=0;PQA=0;PQR=0;PRO=0;QA=10795;QR=9943;RO=270;RPL=182;RPP=50.5617;RPPR=65.2913;RPR=103;RUN=1;SAF=142;SAP=3.01792;SAR=143;SF=5,9,17,18,19,25,27,30,33;SRF=135;SRP=3.0103;SRR=135;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-762.884,0,-694.463:555:270:285:10795:9943:270,285 . . . 0/1:-571.764,0,-601.314:452:232:219:8197:8518:232,219 . . . . . . . 0/1:-761.142,0,-878.393:625:333:292:11012:12340 0/1:-399.497,0,-343.17:283:134:148:5608:4946 0/1:-685.271,0,-687.971:525:263:261:9779:9778 . . . . . 0/1:-693.793,0,-904.265:609:338:271:10179:12576:338,271 . 0/1:-780.31,0,-733.772:592:291:301:11099:10532:291,301 . . 0/1:-560.837,0,-510.955:406:197:209:7917:7299 . . 0/1:-474.405,0,-611.121:411:227:184:6973:8512 . . . +chr1 201336984 . C T 5378.38 . AB=0;ABP=0;AC=31;AF=1;AN=48;AO=384;CIGAR=1X;DP=7651;DPB=384;DPRA=0;EPP=194.462;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=536.942;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=13847;QR=0;RO=0;RPL=263;RPP=117.035;RPPR=0;RPR=121;RUN=1;SAF=163;SAP=22.0333;SAR=221;SF=0,1,2,3,4,6,7,8,9,12,14,16,17,18,19,20,23,24,25,27,28,29,34,35;SRF=0;SRP=0;SRR=0;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1202.59,-115.596,0:384:0:384:13847:0:0,384 0/1:-189.79,0,-170.425:141:67:74:2675:2462 0/1:-437.547,0,-386.85:336:158:177:6193:5636 0/1:-449.875,0,-368.935:325:149:174:6329:5369:149,174 1/1:-1070.05,-103.554,0:345:0:344:12338:0 . 1/1:-757.85,-72.3248,0:254:2:251:8768:43:2,251 0/1:-534.474,0,-459.204:399:187:211:7564:6679 1/1:-730.538,-72.5482,0:243:0:241:8423:0 0/1:-414.182,0,-371.259:313:148:165:5842:5358:148,165 . . 0/1:-577.847,0,-610.943:474:239:235:8290:8700:239,235 . 0/1:-327.301,0,-250.776:235:103:132:4582:3692 . 0/1:-387.232,0,-412.716:327:166:159:5583:5878:166,159 0/1:-294.002,0,-395.45:274:153:121:4333:5499 0/1:-205.159,0,-330.409:213:125:88:3094:4537 0/1:-512.046,0,-501.19:406:198:207:7299:7171 0/1:-477.991,0,-363.85:335:149:186:6666:5369:149,186 . . 0/1:-450.108,0,-410.32:347:163:182:6372:5916 0/1:-225.833,0,-215.319:174:85:89:3192:3079:85,89 0/1:-566.33,0,-611.825:489:247:238:8198:8719:247,238 . 0/1:-464.901,0,-518.913:408:208:196:6741:7368:208,196 1/1:-603.75,-61.1875,0:216:3:211:6967:36 1/1:-1403.15,-143.265,0:491:1:486:16257:38 . . . . 1/1:-1015.13,-96.8764,0:327:1:325:11698:14 0/1:-200.176,0,-298.286:195:112:83:2972:4110 . +chr1 201338553 . T C 153.04 . AB=0;ABP=0;AC=51;AF=1;AN=58;AO=5;CIGAR=1X;DP=219;DPB=5;DPRA=0;EPP=3.44459;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=11.5366;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=180;QR=0;RO=0;RPL=2;RPP=3.44459;RPPR=0;RPR=3;RUN=1;SAF=5;SAP=13.8677;SAR=0;SF=0,1,2,3,4,6,7,8,9,11,12,14,15,17,18,19,20,23,25,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-16.0572,-1.50515,0:5:0:5:180:0:0,5 1/1:-6.62351,-0.60206,0:2:0:2:72:0 1/1:-20.2169,-2.10721,0:7:0:7:227:0 0/1:-9.27097,0,-11.109:8:4:4:131:152:4,4 1/1:-23.1217,-2.10721,0:7:0:7:263:0 . 1/1:-16.2462,-1.50515,0:5:0:5:182:0:0,5 0/1:-10.6017,0,-30.9053:17:12:5:177:409 1/1:-14.6919,-1.50515,0:5:0:5:165:0 1/1:-35.9446,-3.31133,0:11:0:11:411:0:0,11 . 0/1:-26.799,0,-9.09231:15:5:10:357:151 1/1:-21.3164,-2.10721,0:7:0:7:239:0:0,7 . 1/1:-21.7829,-2.40824,0:8:0:8:245:0 1/1:-20.4164,-1.80618,0:6:0:6:233:0 . 1/1:-24.9754,-2.40824,0:8:0:8:284:0 0/1:-5.50401,0,-8.72302:5:3:2:77:114 1/1:-23.6371,-2.10721,0:7:0:7:270:0 1/1:-29.8976,-2.70927,0:9:0:9:342:0:0,9 . . 1/1:-16.7302,-1.50515,0:5:0:5:189:0 . 1/1:-32.9194,-3.0103,0:10:0:10:376:0:0,10 . 1/1:-50.3716,-4.81648,0:16:0:16:577:0:0,16 1/1:-14.375,-1.80618,0:6:0:6:161:0 1/1:-51.7268,-5.41854,0:18:0:18:613:0 1/1:-6.80331,-0.60206,0:2:0:2:74:0 0/1:-17.4394,0,-3.94128:9:2:6:227:71 0/1:-8.18983,0,-10.8941:7:4:3:115:145 1/1:-16.1717,-1.50515,0:5:0:5:182:0 1/1:-9.78478,-0.90309,0:3:0:3:108:0 1/1:-6.79932,-0.60206,0:2:0:2:74:0 0/1:-7.14533,0,-2.45036:4:1:3:93:38 +chr1 201338896 . T C 6114.46 . AB=0;ABP=0;AC=51;AF=1;AN=68;AO=296;CIGAR=1X;DP=9498;DPB=296;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.973;MQMR=0;NS=1;NUMALT=1;ODDS=414.948;PAIRED=0.989865;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10950;QR=0;RO=0;RPL=106;RPP=54.7735;RPPR=0;RPR=190;RUN=1;SAF=158;SAP=5.94472;SAR=138;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,33,34,35;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-949.72,-89.1049,0:296:0:296:10950:0:0,296 1/1:-346.011,-31.9092,0:106:0:106:3994:0 1/1:-1010.84,-97.8348,0:326:0:325:11699:0 0/1:-250.539,0,-414.532:259:154:104:3809:5736:154,104 1/1:-1181.09,-112.585,0:375:0:374:13641:0 0/1:-524.498,0,-377.029:354:152:202:7286:5591:152,202 1/1:-798.787,-76.1606,0:253:0:253:9233:0:0,253 0/1:-608.034,0,-517.93:444:206:236:8540:7548 1/1:-802.289,-76.7627,0:256:0:255:9262:0 1/1:-752.245,-71.3441,0:239:0:237:8691:0:0,237 0/1:-422.139,0,-330.341:288:128:160:5880:4829:128,160 . 1/1:-1331.1,-127.035,0:422:0:422:15361:0:0,422 0/1:-375.748,0,-430.624:318:166:152:5458:6126 1/1:-723.745,-66.6689,0:233:1:231:8372:35 0/1:-467.676,0,-352.776:314:138:176:6487:5174 0/1:-328.033,0,-360.069:264:137:127:4700:5099:137,127 1/1:-971.631,-92.4162,0:308:0:307:11232:0 0/1:-232.92,0,-230.729:178:87:91:3302:3286 1/1:-846.61,-80.9771,0:269:0:269:9773:0 0/1:-406.077,0,-498.901:355:192:163:5952:7033:192,163 0/1:-61.7377,0,-253.48:127:95:32:1156:3355:95,32 0/1:-162.488,0,-177.242:135:70:65:2336:2521 0/1:-503.058,0,-409.632:352:161:190:7050:5966 0/1:-183.574,0,-220.946:156:85:71:2656:3107:85,71 1/1:-1222.13,-118.606,0:396:0:394:14148:0:0,394 0/1:-395.6,0,-451.444:345:181:164:5753:6411 1/1:-1098.95,-103.855,0:345:0:345:12669:0:0,345 1/1:-739.955,-72.8493,0:242:0:242:8514:0 1/1:-1203.31,-114.639,0:403:2:400:14006:71 0/1:-318.037,0,-309.302:246:120:126:4514:4429 0/1:-321.741,0,-235.762:221:96:125:4470:3480 . 0/1:-387.935,0,-339.773:278:131:147:5432:4898 1/1:-801.687,-76.7627,0:255:0:255:9271:0 1/1:-436.469,-42.1442,0:140:0:140:5027:0 . +chr1 201339043 . C T,A 4639.42 . AB=0;ABP=0;AC=51,1;AF=1;AN=68;AO=209;CIGAR=1X;DP=7804;DPB=210;DPRA=0;EPP=24.0497;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.9809;MQMR=42;NS=1;NUMALT=1;ODDS=289.237;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7367;QR=14;RO=1;RPL=178;RPP=227.524;RPPR=5.18177;RPR=31;RUN=1;SAF=96;SAP=6.01296;SAR=113;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,33,34,35;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0495208;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=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.0155;AF_popmax=0.1977;AF_male=0.0174;AF_female=0.0130;AF_raw=0.0155;AF_afr=0.0078;AF_sas=.;AF_amr=0.0236;AF_eas=0.1977;AF_nfe=0.0025;AF_fin=0.0109;AF_asj=0;AF_oth=0.0119;non_topmed_AF_popmax=0.1967;non_neuro_AF_popmax=0.1977;non_cancer_AF_popmax=.;controls_AF_popmax=0.2009;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\x3d95.498272;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-639.823,-61.817,0,.,.,.:210:1:209,.:7367,.:14:1,209 1/1:-299.342,-28.4026,0,.,.,.:99:1:98,.:3485,.:14 1/1:-714.671,-69.5321,0,.,.,.:242:2:236,.:8259,.:24 2/1:-631.607,-324.954,-292.443,-306.855,0,-271.634:226:0:108,117:3903,4151:0:0,117,108 1/1:-827.89,-80.074,0,.,.,.:267:0:266,.:9573,.:0 0/1:-420.128,0,-364.308,.,.,.:313:149:163,.:5934,.:5271:149,163 1/1:-636.927,-62.9153,0,.,.,.:210:0:209,.:7332,.:0:0,209 0/1:-370.637,0,-364.242,.,.,.:298:145:152,.:5326,.:5244 1/1:-652.768,-63.2163,0,.,.,.:212:0:210,.:7542,.:0 1/1:-610.407,-60.4451,0,.,.,.:207:1:204,.:7122,.:14:1,204 0/1:-274.291,0,-227.645,.,.,.:207:94:113,.:3922,.:3329:94,113 . 1/1:-1029.28,-96.9477,0,.,.,.:335:1:332,.:11891,.:37:1,332 0/1:-241.886,0,-384.035,.,.,.:253:145:106,.:3672,.:5290 1/1:-573.048,-55.0885,0,.,.,.:183:0:183,.:6592,.:0 0/1:-299.672,0,-381.893,.,.,.:279:154:124,.:4426,.:5344 0/1:-300.302,0,-276.517,.,.,.:232:109:120,.:4273,.:3987:109,120 1/1:-798.873,-77.2274,0,.,.,.:261:1:259,.:9230,.:12 0/1:-146.28,0,-183.476,.,.,.:143:77:65,.:2165,.:2593 1/1:-734.373,-71.2855,0,.,.,.:243:1:240,.:8497,.:14 0/1:-386.031,0,-357.922,.,.,.:303:144:157,.:5496,.:5169:144,157 0/1:-36.8301,0,-243.169,.,.,.:118:93:25,.:825,.:3193:93,25 0/1:-109.943,0,-152.603,.,.,.:114:63:49,.:1663,.:2149 0/1:-376.932,0,-336.966,.,.,.:291:138:152,.:5356,.:4867 0/1:-103.345,0,-181.755,.,.,.:117:70:45,.:1583,.:2487:70,45 1/1:-952.514,-94.5053,0,.,.,.:319:1:317,.:11045,.:14:1,317 0/1:-330.55,0,-374.466,.,.,.:306:160:144,.:4857,.:5364 1/1:-866.914,-86.5512,0,.,.,.:294:1:290,.:9989,.:12:1,290 1/1:-553.195,-53.7661,0,.,.,.:191:2:185,.:6415,.:28 1/1:-1166.67,-116.125,0,.,.,.:405:2:399,.:13639,.:52 0/1:-229.606,0,-289.402,.,.,.:215:115:95,.:3364,.:4043 0/1:-220.07,0,-206.237,.,.,.:180:88:92,.:3140,.:2982 . 0/1:-196.68,0,-254.338,.,.,.:186:101:84,.:2902,.:3614 1/1:-690.237,-68.0328,0,.,.,.:228:0:226,.:7948,.:0 1/1:-356.699,-35.2205,0,.,.,.:117:0:117,.:4100,.:0 . +chr1 201339044 . G A 2150.24 . AB=0.488136;ABP=3.37099;AC=6;AF=0.5;AN=12;AO=144;CIGAR=1X;DP=1120;DPB=295;DPRA=0;EPP=3.25157;EPPR=3.02487;GTI=0;LEN=1;MEANALT=3;MQM=41.7361;MQMR=41.2752;NS=1;NUMALT=1;ODDS=759.691;PAIRED=0.993056;PAIREDR=0.993289;PAO=0;PQA=0;PQR=0;PRO=0;QA=5175;QR=5389;RO=149;RPL=128;RPP=192.17;RPPR=238.069;RPR=16;RUN=1;SAF=58;SAP=14.8328;SAR=86;SF=7,13,16,21,22,24;SRF=63;SRP=10.7198;SRR=86;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-359.352,0,-374.704:295:149:144:5175:5389 . . . . . 0/1:-378.301,0,-256.032:249:106:143:5213:3846 . . 0/1:-271.351,0,-313.526:231:123:108:3927:4445:123,108 . . . . 0/1:-67.9154,0,-218.602:117:82:35:1181:2916:82,35 0/1:-154.54,0,-114.362:112:48:64:2182:1725 . 0/1:-182.649,0,-103.864:116:45:71:2499:1595:45,71 . . . . . . . . . . . . +chr1 201341175 . CAGAAGAGAAGT CAGAAGT 8779.15 . AB=0;ABP=0;AC=51;AF=1;AN=68;AO=440;CIGAR=1M5D6M;DP=15498;DPB=269.583;DPRA=0;EPP=4.60929;EPPR=0;GTI=0;LEN=5;MEANALT=8;MQM=40.4205;MQMR=0;NS=1;NUMALT=1;ODDS=614.575;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=15091;QR=0;RO=0;RPL=131;RPP=159.376;RPPR=0;RPR=309;RUN=1;SAF=268;SAP=48.4928;SAR=172;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,33,34,35;SRF=0;SRP=0;SRR=0;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1300.49,-132.453,0:455:0:440:15091:0:0,440 1/1:-607.245,-68.6348,0:203:0:201:7075:0 1/1:-1278.64,-155.331,0:478:0:458:14789:0 0/1:-530.416,0,-578.222:451:219:222:7719:8221:219,222 1/1:-1377.06,-165.868,0:483:0:472:15869:0 0/1:-684.332,0,-657.117:551:257:285:9886:9526:257,285 1/1:-1132.39,-112.585,0:375:0:374:13146:0:0,374 0/1:-677.474,0,-986.192:711:364:329:10806:13451 1/1:-1087.94,-123.121,0:375:0:367:12710:0 1/1:-1190.73,-121.315,0:415:0:403:13853:0:0,403 0/1:-447.36,0,-663.413:463:248:195:6774:9194:248,195 . 1/1:-1785.12,-180.618,0:614:0:600:20841:0:0,600 0/1:-578.437,0,-550.879:488:216:254:8589:7923 1/1:-1083.78,-121.656,0:377:1:372:12640:30 0/1:-611.631,0,-643.443:524:244:265:9194:9082 0/1:-595.049,0,-738.749:552:277:258:8843:10391:277,258 1/1:-1604.72,-189.348,0:552:0:541:18645:0 0/1:-306.07,0,-446.166:312:163:141:4814:5979 1/1:-1412.72,-165.901,0:504:2:489:16588:76 0/1:-617.798,0,-761.661:571:287:268:9162:10756:287,268 0/1:-102.188,0,-497.06:255:181:62:2006:6556:181,62 0/1:-285.472,0,-319.912:265:120:132:4309:4325 0/1:-628.632,0,-782.231:554:279:272:9483:10507 0/1:-313.459,0,-323.287:259:125:133:4525:4615:125,133 1/1:-1904.74,-198.68,0:674:0:660:22109:0:0,660 0/1:-512.591,0,-732.805:554:279:255:8017:10133 1/1:-1708.41,-176.705,0:599:0:587:19826:0:0,587 1/1:-915.692,-110.478,0:332:0:323:10681:0 1/1:-1844.43,-224.693,0:666:1:648:21195:29 0/1:-512.059,0,-598.076:444:210:227:7738:7789 0/1:-303.597,0,-433.746:325:165:148:4842:6076 . 0/1:-506.972,0,-521.812:422:198:215:7579:7269 1/1:-1282.28,-149.612,0:442:0:437:14853:0 1/1:-744.382,-89.4059,0:253:0:247:8573:0 . +chr1 201341260 . C T 9209.62 . AB=0.474227;ABP=7.48756;AC=1;AF=0.5;AN=2;AO=368;CIGAR=1X;DP=776;DPB=776;DPRA=0;EPP=93.7401;EPPR=33.903;GTI=0;LEN=1;MEANALT=3;MQM=41.3505;MQMR=41.2808;NS=1;NUMALT=1;ODDS=2120.59;PAIRED=0.986413;PAIREDR=0.997537;PAO=0;PQA=0;PQR=0;PRO=0;QA=13661;QR=14552;RO=406;RPL=182;RPP=3.10471;RPPR=4.3795;RPR=186;RUN=1;SAF=170;SAP=7.63648;SAR=198;SF=5;SRF=184;SRP=10.7335;SRR=222;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TNNT2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376820377;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=3.187e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.18e-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=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\x3d99.054144;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-938.752,0,-1027.8:776:406:368:13661:14552:406,368 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 201341341 . C T 7946.56 . AB=0;ABP=0;AC=60;AF=1;AN=74;AO=342;CIGAR=1X;DP=13000;DPB=342;DPRA=0;EPP=4.25477;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.924;MQMR=0;NS=1;NUMALT=1;ODDS=478.718;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=12252;QR=0;RO=0;RPL=257;RPP=190.849;RPPR=0;RPR=85;RUN=1;SAF=105;SAP=113.641;SAR=237;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-1063.23,-102.952,0:342:0:342:12252:0:0,342 1/1:-481.912,-45.7566,0:152:0:152:5557:0 1/1:-1174.49,-113.696,0:383:1:382:13614:16 1/1:-1055.22,-101.146,0:337:0:336:12218:0:0,336 1/1:-1307.42,-124.024,0:413:0:412:15115:0 0/1:-514.355,0,-567.061:435:224:210:7434:8050:224,210 1/1:-960.466,-91.9519,0:311:1:308:11085:12:1,308 0/1:-555.151,0,-688.345:501:269:230:8223:9651 1/1:-908.804,-79.0631,0:291:3:288:10598:93 1/1:-935.719,-88.5689,0:300:1:298:10854:16:1,298 0/1:-355.79,0,-498.686:339:192:147:5294:6933:192,147 0/1:-587.865,0,-506.587:440:207:233:8299:7344 1/1:-1739.73,-168.009,0:564:1:561:20142:13:1,561 0/1:-543.441,0,-535.971:427:214:211:7774:7633 1/1:-777.199,-74.3544,0:247:0:247:8962:0 1/1:-1144.62,-111.039,0:376:1:372:13226:14 0/1:-556.353,0,-450.446:401:184:217:7808:6603:184,217 1/1:-1401.77,-132.79,0:445:1:444:16256:12 0/1:-277.784,0,-385.515:259:146:113:4099:5317 1/1:-1108.52,-107.167,0:359:0:356:12823:0 1/1:-1365.56,-123.468,0:443:3:438:15937:105:3,438 0/1:-96.7132,0,-340.411:179:130:49:1722:4521:130,49 0/1:-214.113,0,-200.448:172:83:89:3045:2883 1/1:-1121.66,-107.167,0:358:0:356:12949:0 0/1:-258.115,0,-279.512:209:109:100:3700:3926:109,100 1/1:-1495.82,-144.753,0:493:1:492:17341:38:1,492 0/1:-423.14,0,-642.948:438:252:184:6369:8908 1/1:-1241.28,-120.412,0:403:0:400:14351:0:0,400 1/1:-810.447,-79.1709,0:264:0:263:9344:0 1/1:-1501.08,-148.709,0:496:0:494:17378:0 1/1:-929.498,-89.7069,0:298:0:298:10718:0 0/1:-268.658,0,-315.353:233:123:110:3894:4446 0/1:-427.458,0,-474.688:360:187:172:6190:6696 1/1:-963.11,-91.2181,0:308:1:307:11178:15 1/1:-1081.06,-103.554,0:345:0:344:12482:0 1/1:-683.525,-65.0225,0:216:0:216:7873:0 0/1:-600.63,0,-568.574:463:225:237:8532:8132 +chr1 201342385 . T C 4946.82 . AB=0.461369;ABP=8.88238;AC=1;AF=0.5;AN=2;AO=209;CIGAR=1X;DP=453;DPB=453;DPRA=0;EPP=12.9949;EPPR=10.5879;GTI=0;LEN=1;MEANALT=3;MQM=41.622;MQMR=41.5851;NS=1;NUMALT=1;ODDS=1139.05;PAIRED=0.980861;PAIREDR=0.983402;PAO=0;PQA=0;PQR=0;PRO=0;QA=7427;QR=8591;RO=241;RPL=75;RPP=39.1773;RPPR=62.1266;RPR=134;RUN=1;SAF=102;SAP=3.27005;SAR=107;SF=2;SRF=114;SRP=4.53303;SRR=127;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TNNT2;GeneDetail.refGene=NM_001276345:c.-3A>G\x3bNM_000364:c.-3A>G\x3bNM_001276346:c.-3A>G\x3bNM_001276347:c.-3A>G\x3bNM_001001432:c.-3A>G\x3bNM_001001431:c.-3A>G\x3bNM_001001430:c.-3A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs752977897;CLNALLELEID=364606;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;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=0.820;MutationTaster_converted_rankscore=0.289;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.73;FATHMM_converted_rankscore=0.507;FATHMM_pred=T;PROVEAN_score=0.41;PROVEAN_converted_rankscore=0.034;PROVEAN_pred=N;VEST3_score=0.052;VEST3_rankscore=0.034;MetaSVM_score=-0.849;MetaSVM_rankscore=0.521;MetaSVM_pred=T;MetaLR_score=0.144;MetaLR_rankscore=0.467;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.037;REVEL_rankscore=0.098;MutPred_score=0.207;MutPred_rankscore=0.124;CADD_raw=1.538;CADD_raw_rankscore=0.247;CADD_phred=13.52;DANN_score=0.881;DANN_rankscore=0.172;fathmm-MKL_coding_score=0.069;fathmm-MKL_coding_rankscore=0.128;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.552;Eigen-PC-raw=-0.636;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.489;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=-2.13;GERP++_RS_rankscore=0.067;phyloP100way_vertebrate=-0.704;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-0.357;phyloP20way_mammalian_rankscore=0.069;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.961;phastCons20way_mammalian_rankscore=0.442;SiPhy_29way_logOdds=10.210;SiPhy_29way_logOdds_rankscore=0.421;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=8.916e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-05;AF_popmax=6.493e-05;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=6.493e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.356e-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=Name\x3dENSR00000382823|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.920296;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . 0/1:-507.048,0,-603.94:453:241:209:7427:8591 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 227069677 . T C 7962.66 . AB=0.44186;ABP=13.1102;AC=58;AF=0.5;AN=72;AO=152;CIGAR=1X;DP=12360;DPB=344;DPRA=0;EPP=4.4389;EPPR=10.6557;GTI=0;LEN=1;MEANALT=1;MQM=41.9737;MQMR=41.9792;NS=1;NUMALT=1;ODDS=846.599;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5507;QR=7101;RO=192;RPL=78;RPP=3.23888;RPPR=5.9056;RPR=74;RUN=1;SAF=77;SAP=3.06744;SAR=75;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34,35,36;SRF=101;SRP=4.14128;SRR=91;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-375.789,0,-512.279:344:192:152:5507:7101:192,152 1/1:-421.613,-40.037,0:133:0:133:4851:0 1/1:-1101.08,-108.341,0:365:1:363:12776:14 0/1:-501.442,0,-390.993:345:154:191:6976:5726:154,191 0/1:-575.355,0,-536.071:438:210:227:8140:7703 0/1:-468.228,0,-687.868:454:260:194:6996:9562:260,194 1/1:-776.358,-71.368,0:249:1:247:8956:37:1,247 0/1:-547.808,0,-730.427:502:277:225:8069:10235 0/1:-374.208,0,-361.591:288:139:149:5312:5177 0/1:-406.624,0,-486.511:347:187:160:5875:6813:187,160 0/1:-396.443,0,-526.561:362:200:161:5811:7341:200,161 1/1:-1227.52,-118.606,0:394:0:394:14137:0 1/1:-1574.49,-145.887,0:510:3:507:18276:83:3,507 1/1:-1058.34,-104.758,0:348:0:348:12170:0 1/1:-771.078,-73.4513,0:244:0:244:8886:0 1/1:-1321.66,-129.142,0:429:0:429:15257:0 1/1:-1182.13,-112.585,0:374:0:374:13612:0:0,374 0/1:-564.308,0,-609.049:462:235:223:8084:8629 1/1:-710.084,-68.6348,0:228:0:228:8158:0 1/1:-1104.72,-104.563,0:355:1:354:12747:30 1/1:-1436,-137.571,0:460:0:457:16595:0:0,457 0/1:-279.599,0,-74.7335:146:38:108:3715:1364:38,108 1/1:-418.269,-42.4452,0:141:0:141:4843:0 1/1:-1315.65,-126.734,0:421:0:421:15138:0 . 1/1:-1474.8,-144.193,0:480:0:479:16985:0:0,479 1/1:-1189.54,-116.198,0:386:0:386:13699:0 1/1:-1341.75,-130.948,0:435:0:435:15471:0:0,435 1/1:-678.75,-65.6245,0:218:0:218:7804:0 1/1:-1416.37,-140.28,0:466:0:466:16328:0 1/1:-900.925,-86.0946,0:286:0:286:10423:0 0/1:-213.214,0,-301.598:203:113:90:3142:4183 1/1:-1071.06,-102.049,0:340:0:339:12350:0 0/1:-372.632,0,-361.968:290:141:148:5308:5178 0/1:-368.214,0,-420.504:308:161:147:5298:5947 1/1:-464.999,-44.8535,0:149:0:149:5346:0 0/1:-503.406,0,-658.881:460:249:208:7377:9211 +chr1 227069737 . C T 4555.40 . AB=0;ABP=0;AC=51;AF=1;AN=66;AO=86;CIGAR=1X;DP=7148;DPB=86;DPRA=0;EPP=3.41429;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9767;MQMR=0;NS=1;NUMALT=1;ODDS=123.826;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3189;QR=0;RO=0;RPL=80;RPP=141.278;RPPR=0;RPR=6;RUN=1;SAF=35;SAP=9.47422;SAR=51;SF=1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 1/1:-276.067,-25.8886,0:86:0:86:3189:0 1/1:-677.449,-66.8287,0:222:0:222:7891:0 . 0/1:-358.838,0,-415.213:300:157:141:5200:5861 0/1:-325.325,0,-373.95:273:144:129:4741:5304:144,129 1/1:-524.036,-49.971,0:166:0:166:6043:0:0,166 0/1:-407.522,0,-461.158:340:178:162:5921:6590 0/1:-226.63,0,-227.174:172:85:87:3213:3223 0/1:-196.39,0,-341.5:206:125:81:2982:4661:125,81 0/1:-232.798,0,-408.344:251:152:98:3546:5589:152,98 1/1:-872.322,-85.4925,0:285:0:284:10081:0 1/1:-939.075,-88.9808,0:300:1:298:10857:12:1,298 1/1:-728.782,-68.9419,0:234:1:233:8439:15 1/1:-500.224,-47.2617,0:158:0:157:5794:0 1/1:-808.036,-78.5688,0:261:0:261:9356:0 1/1:-719.923,-67.5369,0:229:1:228:8337:14:1,228 . 1/1:-429.918,-40.9401,0:136:0:136:4951:0 1/1:-618.319,-58.0988,0:193:0:193:7151:0 1/1:-847.827,-82.4822,0:275:0:274:9889:0:0,274 0/1:-33.8005,0,-220.9:99:79:20:727:2891:79,20 0/1:-106.072,0,-123.281:94:49:45:1588:1765 1/1:-779.444,-73.7524,0:245:0:245:9016:0 . 1/1:-977.963,-93.3193,0:311:0:310:11369:0:0,310 1/1:-777.974,-71.8621,0:261:2:259:9093:73 0/1:-357.634,0,-420.429:303:163:140:5181:5975:163,140 0/1:-175.448,0,-180.394:143:72:71:2514:2574 1/1:-898.396,-88.5028,0:294:0:294:10406:0 0/1:-227.315,0,-239.484:185:96:89:3265:3440 0/1:-164.106,0,-194.501:140:74:66:2372:2730 1/1:-633.05,-61.1091,0:204:0:203:7328:0 0/1:-246.65,0,-232.399:184:89:95:3483:3326 0/1:-282.407,0,-241.841:203:94:109:3957:3497 1/1:-305.547,-28.8989,0:96:0:96:3522:0 0/1:-328.969,0,-444.193:299:166:132:4848:6192 +chr1 227071449 . G A 4607.69 . AB=0.4375;ABP=18.2106;AC=1;AF=0.5;AN=2;AO=196;CIGAR=1X;DP=448;DPB=448;DPRA=0;EPP=5.18177;EPPR=6.45708;GTI=0;LEN=1;MEANALT=1;MQM=41.8878;MQMR=41.8413;NS=1;NUMALT=1;ODDS=1060.96;PAIRED=0.97449;PAIREDR=0.992063;PAO=0;PQA=0;PQR=0;PRO=0;QA=7083;QR=9179;RO=252;RPL=53;RPP=92.7497;RPPR=47.6806;RPR=143;RUN=1;SAF=90;SAP=5.84651;SAR=106;SF=3;SRF=120;SRP=4.25114;SRR=132;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-479.215,0,-659.531:448:252:196:7083:9179:252,196 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 227071472 . G A 7495.94 . AB=0.492635;ABP=3.29817;AC=1;AF=0.5;AN=2;AO=301;CIGAR=1X;DP=611;DPB=611;DPRA=0;EPP=50.3426;EPPR=39.3229;GTI=0;LEN=1;MEANALT=1;MQM=41.5216;MQMR=41.9742;NS=1;NUMALT=1;ODDS=1726;PAIRED=0.986711;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10978;QR=11224;RO=310;RPL=126;RPP=20.3316;RPPR=43.4697;RPR=175;RUN=1;SAF=142;SAP=5.0952;SAR=159;SF=5;SRF=136;SRP=13.1252;SRR=174;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon5:c.G208A:p.G70R,PSEN2:NM_012486:exon5:c.G208A:p.G70R;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139972151;CLNALLELEID=189389;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.124;SIFT_converted_rankscore=0.319;SIFT_pred=T;Polyphen2_HDIV_score=0.538;Polyphen2_HDIV_rankscore=0.360;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.047;Polyphen2_HVAR_rankscore=0.234;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.486;LRT_pred=D;MutationTaster_score=0.986;MutationTaster_converted_rankscore=0.416;MutationTaster_pred=D;MutationAssessor_score=0.895;MutationAssessor_score_rankscore=0.225;MutationAssessor_pred=L;FATHMM_score=-6.59;FATHMM_converted_rankscore=0.997;FATHMM_pred=D;PROVEAN_score=-0.33;PROVEAN_converted_rankscore=0.291;PROVEAN_pred=N;VEST3_score=0.228;VEST3_rankscore=0.280;MetaSVM_score=1.146;MetaSVM_rankscore=0.999;MetaSVM_pred=D;MetaLR_score=0.917;MetaLR_rankscore=0.973;MetaLR_pred=D;M-CAP_score=0.217;M-CAP_rankscore=0.876;M-CAP_pred=D;REVEL_score=0.456;REVEL_rankscore=0.758;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.947;CADD_raw_rankscore=0.415;CADD_phred=22.0;DANN_score=0.996;DANN_rankscore=0.742;fathmm-MKL_coding_score=0.785;fathmm-MKL_coding_rankscore=0.385;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.219;Eigen-PC-raw=-0.078;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=4.42;GERP++_RS_rankscore=0.526;phyloP100way_vertebrate=3.071;phyloP100way_vertebrate_rankscore=0.495;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.996;phastCons100way_vertebrate_rankscore=0.391;phastCons20way_mammalian=0.114;phastCons20way_mammalian_rankscore=0.194;SiPhy_29way_logOdds=14.696;SiPhy_29way_logOdds_rankscore=0.686;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=5.65e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.921e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.362e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.185e-05;AF_popmax=6.483e-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=6.483e-05;AF_fin=0;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=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\x3d99.227454;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-763.845,0,-791.72:611:310:301:10978:11224:310,301 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 227071475 . C T 6308.74 . AB=0.463497;ABP=9.82703;AC=1;AF=0.5;AN=2;AO=273;CIGAR=1X;DP=589;DPB=589;DPRA=0;EPP=17.7175;EPPR=46.033;GTI=0;LEN=1;MEANALT=2;MQM=41.6264;MQMR=41.5556;NS=1;NUMALT=1;ODDS=1452.64;PAIRED=0.989011;PAIREDR=0.987302;PAO=0;PQA=0;PQR=0;PRO=0;QA=9459;QR=11389;RO=315;RPL=107;RPP=30.6986;RPPR=30.3709;RPR=166;RUN=1;SAF=122;SAP=9.69971;SAR=151;SF=17;SRF=146;SRP=6.65699;SRR=169;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-643.877,0,-807.426:589:315:273:9459:11389 . . . . . . . . . . . . . . . . . . . +chr1 227071525 . C T 9384.85 . AB=0;ABP=0;AC=51;AF=1;AN=66;AO=158;CIGAR=1X;DP=13963;DPB=158;DPRA=0;EPP=6.52863;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7405;MQMR=0;NS=1;NUMALT=1;ODDS=223.64;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5774;QR=0;RO=0;RPL=116;RPP=78.2697;RPPR=0;RPR=42;RUN=1;SAF=55;SAP=34.6753;SAR=103;SF=1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 1/1:-496.06,-47.5627,0:158:0:158:5774:0 1/1:-1389.14,-133.958,0:448:0:445:16107:0 . 0/1:-558.036,0,-774.024:530:303:227:8316:10785 0/1:-696.672,0,-634.376:518:249:267:9912:9106:249,267 1/1:-1166.98,-107.098,0:365:1:362:13537:24:1,362 0/1:-564.497,0,-876.296:573:336:235:8621:12104 0/1:-644.735,0,-508.441:454:206:247:9079:7470 0/1:-411.645,0,-540.167:379:210:168:6068:7532:210,168 0/1:-539.586,0,-577.647:438:225:212:7847:8188:225,212 1/1:-1566.38,-150.628,0:506:2:503:18193:73 1/1:-1830.43,-175.5,0:585:0:583:21276:0:0,583 1/1:-1294.88,-124.024,0:415:0:412:15056:0 1/1:-1078.56,-101.748,0:340:0:338:12499:0 1/1:-1440.79,-136.819,0:460:1:458:16788:15 1/1:-1315.55,-124.626,0:416:0:414:15284:0:0,414 . 1/1:-814.021,-77.0637,0:257:0:256:9419:0 1/1:-1646.93,-158.342,0:527:0:526:19119:0 1/1:-1644.3,-150.425,0:530:3:523:19244:91:3,523 0/1:-161.11,0,-474.146:257:179:76:2759:6327:179,76 0/1:-384.904,0,-272.025:267:115:151:5397:4050 1/1:-1536.97,-145.699,0:485:0:484:17847:0 . 1/1:-1872.52,-177.909,0:592:0:591:21708:0:0,591 1/1:-1469.13,-144.494,0:484:0:480:17000:0 0/1:-624.827,0,-631.748:505:258:246:8997:9039:258,246 0/1:-350.265,0,-318.109:276:135:140:5039:4617 1/1:-1749.48,-169.459,0:567:1:564:20347:14 0/1:-636.023,0,-489.135:437:193:243:8890:7154 0/1:-450.538,0,-355.257:318:148:170:6315:5190 1/1:-1395.81,-134.259,0:446:0:446:16180:0 0/1:-421.383,0,-609.126:403:232:170:6294:8438 0/1:-467.236,0,-478.243:367:185:181:6682:6790 1/1:-720.671,-68.0328,0:226:0:226:8368:0 0/1:-527.894,0,-553.072:434:217:215:7677:7975 +chr1 227075813 . A G 5145.76 . AB=0.477064;ABP=5.00248;AC=1;AF=0.5;AN=2;AO=208;CIGAR=1X;DP=436;DPB=436;DPRA=0;EPP=3.38613;EPPR=6.46361;GTI=0;LEN=1;MEANALT=2;MQM=41.6827;MQMR=41.8282;NS=1;NUMALT=1;ODDS=1184.85;PAIRED=0.985577;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7522;QR=8419;RO=227;RPL=106;RPP=3.17734;RPPR=14.7286;RPR=102;RUN=1;SAF=107;SAP=3.38613;SAR=101;SF=27;SRF=111;SRP=3.24945;SRR=116;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PSEN2:NM_000447:exon7:c.A520G:p.M174V,PSEN2:NM_012486:exon7:c.A520G:p.M174V;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61757781;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.219;SIFT_converted_rankscore=0.203;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.067;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.970;MutationTaster_converted_rankscore=0.397;MutationTaster_pred=D;MutationAssessor_score=0.935;MutationAssessor_score_rankscore=0.237;MutationAssessor_pred=L;FATHMM_score=-5.82;FATHMM_converted_rankscore=0.994;FATHMM_pred=D;PROVEAN_score=-0.23;PROVEAN_converted_rankscore=0.193;PROVEAN_pred=N;VEST3_score=0.452;VEST3_rankscore=0.583;MetaSVM_score=0.675;MetaSVM_rankscore=0.929;MetaSVM_pred=D;MetaLR_score=0.871;MetaLR_rankscore=0.957;MetaLR_pred=D;M-CAP_score=0.400;M-CAP_rankscore=0.934;M-CAP_pred=D;REVEL_score=0.501;REVEL_rankscore=0.787;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.890;CADD_raw_rankscore=0.288;CADD_phred=15.53;DANN_score=0.971;DANN_rankscore=0.320;fathmm-MKL_coding_score=0.846;fathmm-MKL_coding_rankscore=0.434;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.320;Eigen-PC-raw=-0.141;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=3.59;GERP++_RS_rankscore=0.401;phyloP100way_vertebrate=1.990;phyloP100way_vertebrate_rankscore=0.401;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.996;phastCons20way_mammalian_rankscore=0.625;SiPhy_29way_logOdds=6.099;SiPhy_29way_logOdds_rankscore=0.191;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0007;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0020;AF=0.0004;AF_popmax=0.0024;AF_male=0.0005;AF_female=0.0001;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=0.0025;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0005627;Kaviar_AC=87;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0003311|hsa-miR-641|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.318656;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-521.134,0,-597.055:436:227:208:7522:8419:227,208 . . . . . . . . . +chr1 227076671 . T C 9018.66 . AB=0.497214;ABP=3.05869;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X;DP=718;DPB=718;DPRA=0;EPP=3.06504;EPPR=3.16236;GTI=0;LEN=1;MEANALT=2;MQM=41.7227;MQMR=41.8992;NS=1;NUMALT=1;ODDS=1982.18;PAIRED=0.994398;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13073;QR=12530;RO=357;RPL=231;RPP=70.0705;RPPR=67.5401;RPR=126;RUN=1;SAF=163;SAP=8.85564;SAR=194;SF=14;SRF=163;SRP=8.85564;SRR=194;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-916.891,0,-875.625:718:357:357:13073:12530 . . . . . . . . . . . . . . . . . . . . . . +chr1 227076757 . G A 3808.17 . AB=0.49835;ABP=3.01747;AC=1;AF=0.5;AN=2;AO=151;CIGAR=1X;DP=303;DPB=303;DPRA=0;EPP=22.6974;EPPR=35.9253;GTI=0;LEN=1;MEANALT=1;MQM=41.7483;MQMR=41.8487;NS=1;NUMALT=1;ODDS=862.828;PAIRED=0.993377;PAIREDR=0.986842;PAO=0;PQA=0;PQR=0;PRO=0;QA=5683;QR=5600;RO=152;RPL=110;RPP=71.4764;RPPR=65.2401;RPR=41;RUN=1;SAF=59;SAP=18.6708;SAR=92;SF=6;SRF=61;SRP=15.8677;SRR=91;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs777323657;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;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=1.069e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.064e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d98.196204;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-398.322,0,-392.632:303:152:151:5683:5600:152,151 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 227078955 . T C 3263.36 . AB=0.522936;ABP=3.50834;AC=58;AF=0.5;AN=72;AO=57;CIGAR=1X;DP=4842;DPB=109;DPRA=0;EPP=3.0484;EPPR=9.02361;GTI=0;LEN=1;MEANALT=1;MQM=41.6667;MQMR=41.6346;NS=1;NUMALT=1;ODDS=275.501;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2062;QR=1890;RO=52;RPL=12;RPP=44.4969;RPPR=45.7716;RPR=45;RUN=1;SAF=36;SAP=11.5819;SAR=21;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34,35,36;SRF=26;SRP=3.0103;SRR=26;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-146.067,0,-130.781:109:52:57:2062:1890:52,57 1/1:-168.481,-15.6536,0:53:0:52:1949:0 1/1:-446.566,-41.8432,0:139:0:139:5170:0 0/1:-195.378,0,-182.907:145:69:76:2763:2619:69,76 0/1:-214.982,0,-225.354:168:86:81:3073:3209 0/1:-160.349,0,-205.554:141:77:64:2342:2866:77,64 1/1:-379.096,-34.9195,0:116:0:116:4381:0:0,116 0/1:-271.774,0,-268.899:206:102:103:3859:3825 0/1:-144.22,0,-153.837:115:59:56:2067:2176 0/1:-143.077,0,-109.41:96:43:53:1986:1597:43,53 0/1:-157.803,0,-168.965:131:67:64:2316:2403:67,64 1/1:-525.435,-49.3689,0:166:0:164:6119:0 1/1:-701.822,-65.3235,0:218:0:217:8155:0:0,217 1/1:-495.778,-46.6597,0:156:0:155:5727:0 1/1:-374.583,-34.9195,0:116:0:116:4362:0 1/1:-478.84,-46.0576,0:153:0:153:5558:0 1/1:-334.492,-31.0061,0:103:0:103:3870:0:0,103 0/1:-219.913,0,-173.086:157:72:84:3101:2543 1/1:-326.257,-29.4072,0:103:1:102:3821:16 1/1:-433.667,-41.2411,0:137:0:137:5068:0 1/1:-673.135,-62.3132,0:208:0:207:7799:0:0,207 0/1:-120.665,0,-29.0258:58:15:43:1592:531:15,43 1/1:-178.362,-16.8577,0:56:0:56:2054:0 1/1:-468.613,-43.0473,0:143:0:143:5422:0 . 1/1:-773.956,-72.5482,0:243:0:241:8983:0:0,241 1/1:-481.533,-45.4555,0:151:0:151:5564:0 1/1:-580.283,-55.3895,0:184:0:184:6760:0:0,184 1/1:-339.791,-33.1133,0:110:0:110:3919:0 1/1:-717.554,-68.0328,0:226:0:226:8305:0 1/1:-353.164,-33.1133,0:110:0:110:4080:0 0/1:-109.071,0,-131.491:92:49:43:1606:1836 1/1:-374.219,-34.6185,0:115:0:115:4323:0 0/1:-191.072,0,-91.9318:107:39:68:2593:1430 0/1:-166.192,0,-132.331:114:52:62:2315:1925 1/1:-199.694,-18.6639,0:62:0:62:2308:0 0/1:-188.133,0,-171.03:135:65:70:2647:2448 +chr1 227081850 . G A 2020.60 . AB=0;ABP=0;AC=50;AF=1;AN=64;AO=25;CIGAR=1X;DP=2955;DPB=25;DPRA=0;EPP=3.09716;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=39.2625;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=930;QR=0;RO=0;RPL=21;RPP=28.1125;RPPR=0;RPR=4;RUN=1;SAF=9;SAP=7.26639;SAR=16;SF=1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,18,19,20,22,23,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 1/1:-80.9374,-7.52575,0:25:0:25:930:0 1/1:-303.163,-30.404,0:101:0:101:3507:0 . 0/1:-215.852,0,-170.272:151:68:83:3016:2480 0/1:-121.045,0,-99.6285:87:41:46:1696:1465:41,46 1/1:-273.176,-25.8886,0:86:0:86:3143:0:0,86 0/1:-175.481,0,-143.737:130:60:69:2464:2096 0/1:-92.7195,0,-95.808:75:38:36:1326:1355 0/1:-114.903,0,-71.0416:78:32:45:1600:1081:32,45 0/1:-110.524,0,-118.152:93:46:45:1588:1672:46,45 1/1:-460.331,-45.205,0:156:1:153:5356:13 1/1:-359.814,-33.7801,0:117:1:115:4176:13:1,115 1/1:-308.729,-31.6082,0:106:0:105:3565:0 1/1:-205.849,-20.47,0:68:0:68:2423:0 1/1:-252.466,-24.3834,0:81:0:81:2925:0 1/1:-371.861,-36.1236,0:120:0:120:4333:0:0,120 . 1/1:-123.269,-12.3422,0:41:0:41:1413:0 1/1:-237.832,-20.5263,0:80:1:78:2788:36 1/1:-312.023,-30.7051,0:103:0:102:3607:0:0,102 . 0/1:-30.7175,0,-36.3266:28:16:12:447:507 1/1:-378.546,-35.2596,0:124:1:120:4411:13 . 1/1:-438.416,-43.0361,0:148:1:146:5091:14:1,146 1/1:-364.724,-38.5318,0:128:0:128:4180:0 0/1:-171.2,0,-171.971:139:69:70:2473:2451:69,70 0/1:-68.0681,0,-92.1719:67:36:30:1007:1298 1/1:-438.319,-44.8535,0:149:0:149:5056:0 0/1:-138.511,0,-71.6852:87:32:55:1891:1120 0/1:-82.1588,0,-65.9841:61:27:34:1165:965 1/1:-196.874,-18.7701,0:67:1:66:2278:14 0/1:-104.696,0,-80.4486:73:32:41:1454:1173 0/1:-71.8223,0,-63.1462:55:26:29:1012:911 1/1:-131.02,-12.6433,0:42:0:42:1506:0 0/1:-97.5382,0,-119.553:89:49:40:1425:1673 +chr1 228399482 . C G 2377.08 . AB=0.551724;ABP=4.35811;AC=44;AF=0.5;AN=64;AO=32;CIGAR=1X;DP=4110;DPB=58;DPRA=0;EPP=4.09604;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.9375;MQMR=42;NS=1;NUMALT=1;ODDS=128.346;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1154;QR=925;RO=26;RPL=10;RPP=12.7819;RPPR=15.0369;RPR=22;RUN=1;SAF=16;SAP=3.0103;SAR=16;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,26,27,28,29,30,33,34,35,36;SRF=18;SRP=11.3621;SRR=8;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-82.938,0,-63.3057:58:26:32:1154:925 1/1:-349.066,-35.0256,0:118:1:116:4089:12 0/1:-160.878,0,-176.054:137:70:66:2317:2545:70,66 0/1:-217.684,0,-215.058:169:84:85:3090:3067 0/1:-181.625,0,-169.296:141:67:74:2574:2439:67,74 1/1:-278.866,-27.0927,0:90:0:90:3233:0:0,90 1/1:-520.003,-49.3754,0:169:1:168:6049:15 0/1:-134.189,0,-115.789:96:45:51:1891:1674 0/1:-139.044,0,-114.739:101:45:56:1955:1668:45,56 1/1:-420.229,-40.338,0:135:0:134:4877:0:0,134 0/1:-190.751,0,-216.729:169:88:81:2783:3114 0/1:-179.595,0,-224.906:155:85:70:2605:3140:85,70 0/1:-175.234,0,-186.362:147:75:72:2528:2641 1/1:-278.045,-26.4906,0:88:0:88:3196:0 0/1:-217.747,0,-158.346:157:68:87:3123:2439 1/1:-369.101,-36.1236,0:120:0:120:4286:0:0,120 0/1:-217.149,0,-186.807:160:73:87:3085:2725 1/1:-243.091,-23.4803,0:78:0:78:2793:0 1/1:-425.569,-40.9401,0:136:0:136:4971:0 0/1:-196.244,0,-210.401:166:84:82:2826:2992:84,82 0/1:-149.228,0,-13.3378:65:10:55:1936:375:10,55 0/1:-61.8793,0,-51.3796:45:20:25:864:743 1/1:-466.091,-45.4555,0:152:0:151:5362:0 . . 0/1:-177.97,0,-202.376:159:80:77:2595:2873 0/1:-270.522,0,-191.199:191:83:108:3784:2891:83,108 1/1:-315.66,-31.0061,0:103:0:103:3644:0 0/1:-198.742,0,-234.897:179:94:85:2916:3347 0/1:-225.082,0,-102.236:127:45:82:3029:1614 . . 1/1:-456.687,-43.6494,0:145:0:145:5259:0 0/1:-143.031,0,-162.425:119:62:57:2056:2280 1/1:-189.858,-16.8727,0:64:1:63:2208:24 0/1:-211.42,0,-219.219:171:86:85:3047:3128 +chr1 228399519 . T A 1945.35 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=82;CIGAR=1X;DP=164;DPB=164;DPRA=0;EPP=3.0103;EPPR=3.11623;GTI=0;LEN=1;MEANALT=1;MQM=41;MQMR=41.9024;NS=1;NUMALT=1;ODDS=447.933;PAIRED=0.963415;PAIREDR=0.97561;PAO=0;PQA=0;PQR=0;PRO=0;QA=2916;QR=3039;RO=82;RPL=42;RPP=3.11623;RPPR=4.70511;RPR=40;RUN=1;SAF=47;SAP=6.82362;SAR=35;SF=19;SRF=45;SRP=4.70511;SRR=37;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-201.298,0,-214.343:164:82:82:2916:3039 . . . . . . . . . . . . . . . . . +chr1 228399766 . T C 270.38 . AB=0.571429;ABP=3.32051;AC=38;AF=0.5;AN=54;AO=4;CIGAR=1X;DP=480;DPB=7;DPRA=0;EPP=5.18177;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=8.91483;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=143;QR=115;RO=3;RPL=4;RPP=11.6962;RPPR=9.52472;RPR=0;RUN=1;SAF=1;SAP=5.18177;SAR=3;SF=1,2,3,4,5,6,7,8,9,10,11,12,14,16,17,18,19,20,23,26,27,28,30,33,34,35,36;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-10.7444,0,-8.18983:7:3:4:143:115 1/1:-29.4309,-3.0103,0:10:0:10:336:0 0/1:-18.431,0,-22.3514:15:8:7:260:307:8,7 0/1:-27.1905,0,-33.8565:24:13:11:393:470 0/1:-20.7125,0,-52.5381:28:19:9:332:697:19,9 1/1:-16.5007,-1.50515,0:5:0:5:186:0:0,5 1/1:-83.3813,-7.82678,0:26:0:26:954:0 0/1:-9.7992,0,-44.5926:22:16:6:189:585 0/1:-21.2227,0,-17.7947:15:7:8:292:251:7,8 1/1:-72.0065,-6.92369,0:23:0:23:839:0:0,23 0/1:-10.4414,0,-13.0424:9:5:4:147:176 0/1:-63.125,0,-27.3434:38:14:24:853:478:14,24 . 1/1:-13.3549,-1.20412,0:4:0:4:150:0 . 1/1:-29.6643,-2.70927,0:9:0:9:338:0:0,9 0/1:-9.54074,0,-21.0778:13:8:5:165:285 1/1:-29.9775,-3.0103,0:10:0:10:339:0 1/1:-80.6782,-8.12781,0:27:0:27:946:0 0/1:-39.0826,0,-47.0775:34:18:16:565:658:18,16 . . 1/1:-103.557,-9.63296,0:32:0:32:1190:0 . . 0/1:-15.558,0,-42.5671:23:16:7:254:565 0/1:-25.4392,0,-29.7193:23:12:11:367:416:12,11 1/1:-19.9345,-1.80618,0:6:0:6:226:0 . 0/1:-22.1883,0,-12.8929:13:5:8:296:190 . . 1/1:-79.0909,-7.52575,0:25:0:25:906:0 0/1:-10.1289,0,-25.158:14:9:5:161:334 0/1:-23.8566,0,-3.86311:10:2:8:307:75 0/1:-18.9333,0,-15.2881:15:6:9:321:224 +chr1 228399799 . C T 23.95 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1.54572;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=70;QR=44;RO=2;RPL=2;RPP=7.35324;RPPR=7.35324;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=34;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.26834,0,-2.95879:4:2:2:70:44 . . +chr1 228399824 . C A 57.40 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=76;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=17;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.C340A:p.L114M,OBSCN:NM_001271223:exon2:c.C340A:p.L114M,OBSCN:NM_052843:exon2:c.C340A:p.L114M;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.128;SIFT_converted_rankscore=0.269;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.972;Polyphen2_HVAR_rankscore=0.710;Polyphen2_HVAR_pred=D;LRT_score=0.046;LRT_converted_rankscore=0.234;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.92;MutationAssessor_score_rankscore=0.235;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-0.32;PROVEAN_converted_rankscore=0.125;PROVEAN_pred=N;VEST3_score=0.192;VEST3_rankscore=0.243;MetaSVM_score=-0.581;MetaSVM_rankscore=0.656;MetaSVM_pred=T;MetaLR_score=0.310;MetaLR_rankscore=0.681;MetaLR_pred=T;M-CAP_score=0.340;M-CAP_rankscore=0.920;M-CAP_pred=D;REVEL_score=0.154;REVEL_rankscore=0.408;MutPred_score=0.423;MutPred_rankscore=0.468;CADD_raw=2.522;CADD_raw_rankscore=0.364;CADD_phred=19.61;DANN_score=0.980;DANN_rankscore=0.370;fathmm-MKL_coding_score=0.925;fathmm-MKL_coding_rankscore=0.556;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.208;Eigen-PC-raw=0.134;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=3.61;GERP++_RS_rankscore=0.403;phyloP100way_vertebrate=2.110;phyloP100way_vertebrate_rankscore=0.413;phyloP20way_mammalian=0.778;phyloP20way_mammalian_rankscore=0.314;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.880;phastCons20way_mammalian_rankscore=0.369;SiPhy_29way_logOdds=7.303;SiPhy_29way_logOdds_rankscore=0.254;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=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.380803;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 1/1:-6.94351,-0.60206,0:2:0:2:76:0 . . . . . . . . . . . . . . . . . . . +chr1 228400178 . G A 285.62 . AB=0.761905;ABP=15.5221;AC=1;AF=0.5;AN=2;AO=16;CIGAR=1X;DP=21;DPB=21;DPRA=0;EPP=22.5536;EPPR=7.35324;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=14.3034;PAIRED=0.875;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=487;QR=70;RO=2;RPL=0;RPP=37.7539;RPPR=7.35324;RPR=16;RUN=1;SAF=14;SAP=22.5536;SAR=2;SF=7;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon2:c.G694A:p.A232T,OBSCN:NM_001271223:exon2:c.G694A:p.A232T,OBSCN:NM_052843:exon2:c.G694A:p.A232T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;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=0.279;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.002;Polyphen2_HVAR_rankscore=0.190;Polyphen2_HVAR_pred=B;LRT_score=0.032;LRT_converted_rankscore=0.251;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.232;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.41;FATHMM_converted_rankscore=0.625;FATHMM_pred=T;PROVEAN_score=-0.89;PROVEAN_converted_rankscore=0.251;PROVEAN_pred=N;VEST3_score=0.021;VEST3_rankscore=0.029;MetaSVM_score=-1.057;MetaSVM_rankscore=0.126;MetaSVM_pred=T;MetaLR_score=0.087;MetaLR_rankscore=0.337;MetaLR_pred=T;M-CAP_score=0.456;M-CAP_rankscore=0.944;M-CAP_pred=D;REVEL_score=0.018;REVEL_rankscore=0.032;MutPred_score=0.26;MutPred_rankscore=0.204;CADD_raw=0.338;CADD_raw_rankscore=0.127;CADD_phred=6.055;DANN_score=0.975;DANN_rankscore=0.335;fathmm-MKL_coding_score=0.067;fathmm-MKL_coding_rankscore=0.126;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.849;Eigen-PC-raw=-0.783;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.385;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=2.3;GERP++_RS_rankscore=0.276;phyloP100way_vertebrate=0.174;phyloP100way_vertebrate_rankscore=0.164;phyloP20way_mammalian=0.868;phyloP20way_mammalian_rankscore=0.378;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.896;phastCons20way_mammalian_rankscore=0.378;SiPhy_29way_logOdds=5.919;SiPhy_29way_logOdds_rankscore=0.182;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dENSR00000021279|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1507123|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.357536;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-37.8749,0,-0.82814:21:2:16:487:70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228400286 . G T 1161.14 . AB=0.377778;ABP=20.5268;AC=1;AF=0.5;AN=2;AO=51;CIGAR=1X;DP=135;DPB=135;DPRA=0;EPP=5.09662;EPPR=5.59539;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.3214;NS=1;NUMALT=1;ODDS=267.362;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1900;QR=3114;RO=84;RPL=25;RPP=3.05288;RPPR=29.4816;RPR=26;RUN=1;SAF=28;SAP=4.07475;SAR=23;SF=1;SRF=39;SRP=3.94093;SRR=45;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=OBSCN:NM_001098623:exon2:c.G802T:p.E268X,OBSCN:NM_001271223:exon2:c.G802T:p.E268X,OBSCN:NM_052843:exon2:c.G802T:p.E268X;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=0.025;LRT_converted_rankscore=0.261;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=11.257;CADD_raw_rankscore=0.973;CADD_phred=37;DANN_score=0.997;DANN_rankscore=0.780;fathmm-MKL_coding_score=0.956;fathmm-MKL_coding_rankscore=0.652;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.937;Eigen-PC-raw=0.762;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=4.26;GERP++_RS_rankscore=0.497;phyloP100way_vertebrate=5.788;phyloP100way_vertebrate_rankscore=0.685;phyloP20way_mammalian=0.869;phyloP20way_mammalian_rankscore=0.378;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=16.703;SiPhy_29way_logOdds_rankscore=0.852;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=.;Kaviar_AC=.;Kaviar_AN=.;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\x3d99.419585;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-124.21,0,-227.423:135:84:51:1900:3114 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228401183 . G C 1847.34 . AB=0.457317;ABP=5.60547;AC=1;AF=0.5;AN=2;AO=75;CIGAR=1X;DP=164;DPB=164;DPRA=0;EPP=9.52472;EPPR=3.22989;GTI=0;LEN=1;MEANALT=1;MQM=41.9467;MQMR=41.7753;NS=1;NUMALT=1;ODDS=425.366;PAIRED=0.973333;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2807;QR=3177;RO=89;RPL=29;RPP=11.3777;RPPR=44.0243;RPR=46;RUN=1;SAF=47;SAP=13.4623;SAR=28;SF=33;SRF=56;SRP=15.9171;SRR=33;TYPE=snp;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\x3dOREG1507123|N/A|EGR1|PAZAR,OREG1850440|N/A|RB1|PAZAR,OREG1820737|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.127294;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-193.832,0,-226.765:164:89:75:2807:3177 . . . +chr1 228402047 . A G 8385.96 . AB=0.51751;ABP=3.69469;AC=44;AF=0.5;AN=64;AO=133;CIGAR=1X;DP=16557;DPB=257;DPRA=0;EPP=3.15724;EPPR=3.17453;GTI=0;LEN=1;MEANALT=3;MQM=38.1504;MQMR=39.4538;NS=1;NUMALT=1;ODDS=583.486;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4089;QR=3903;RO=119;RPL=61;RPP=4.98585;RPPR=3.02855;RPR=72;RUN=1;SAF=85;SAP=25.3618;SAR=48;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,26,27,28,29,30,33,34,35,36;SRF=59;SRP=3.02855;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-274.534,0,-260.302:257:119:133:4089:3903 1/1:-1328.48,-147.806,0:500:1:492:15837:12 0/1:-455.214,0,-488.834:447:226:213:6938:7280:226,213 0/1:-777.689,0,-898.703:790:405:372:11960:13264 0/1:-758.742,0,-824.734:709:359:341:11503:11999:359,341 1/1:-953.846,-103.715,0:367:3:356:11397:52:3,356 1/1:-2162.6,-228.338,0:783:3:768:25572:54 0/1:-554.021,0,-492.226:477:222:248:8223:7417 0/1:-406.098,0,-429.935:405:202:197:6195:6448:202,197 1/1:-1608.47,-167.525,0:580:3:568:18981:53:3,568 0/1:-567.526,0,-607.88:574:284:275:8781:9054 0/1:-710.335,0,-872.967:731:396:321:10853:13048:396,321 0/1:-686.929,0,-557.219:586:261:313:10080:8466 1/1:-819.19,-89.1707,0:305:1:296:9693:12 0/1:-599.267,0,-467.036:515:220:281:9074:7266 1/1:-1647.4,-180.186,0:623:4:610:19908:63:4,610 0/1:-647.45,0,-526.282:558:248:302:9636:8164 1/1:-937.794,-101.441,0:358:3:346:11250:69 1/1:-1286.75,-138.503,0:488:3:473:15354:61 0/1:-657.119,0,-806.436:676:357:306:10078:11838:357,306 0/1:-410.078,0,-60.7704:232:49:174:5483:1459:49,174 0/1:-271.295,0,-245.778:253:117:129:4063:3707 1/1:-2234.18,-232.167,0:789:3:780:26141:40 . . 0/1:-751.109,0,-689.39:695:323:362:11365:10427 0/1:-733.268,0,-725.513:684:329:344:11002:10861:329,344 1/1:-936.264,-104.755,0:359:1:349:10958:12 0/1:-760.564,0,-874.504:772:393:369:11720:12899 0/1:-326.908,0,-433.585:367:198:155:5132:6437 . . 1/1:-1279.08,-141.785,0:481:0:471:15001:0 0/1:-384.614,0,-486.003:405:219:182:5891:7196 1/1:-645.915,-68.3338,0:228:0:227:7560:0 0/1:-555.635,0,-665.073:563:300:256:8476:9803 +chr1 228402121 . A G 7994.39 . AB=0.525424;ABP=4.00402;AC=44;AF=0.5;AN=64;AO=93;CIGAR=1X;DP=13566;DPB=177;DPRA=0;EPP=6.95631;EPPR=3.66436;GTI=0;LEN=1;MEANALT=2;MQM=41.5484;MQMR=41.9759;NS=1;NUMALT=1;ODDS=440.244;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3391;QR=2906;RO=83;RPL=63;RPP=28.4375;RPPR=19.3617;RPR=30;RUN=1;SAF=49;SAP=3.59403;SAR=44;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,26,27,28,29,30,33,34,35,36;SRF=37;SRP=5.12945;SRR=46;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-238.929,0,-199.631:177:83:93:3391:2906 1/1:-1373.78,-137,0:467:1:461:16092:39 0/1:-523.788,0,-399.369:385:170:208:7525:6056:170,208 0/1:-663.604,0,-686.466:555:272:278:9782:9929 0/1:-700.017,0,-713.344:571:285:281:10193:10270:285,281 1/1:-1005.51,-97.7436,0:336:1:333:11845:31:1,333 1/1:-1897.97,-184.832,0:618:0:614:22159:0 0/1:-464.972,0,-399.865:363:170:189:6737:6029 0/1:-373.279,0,-405.596:334:172:156:5550:5883:172,156 1/1:-1384.8,-134.259,0:449:0:446:16341:0:0,446 0/1:-680.356,0,-502.6:501:217:280:9738:7622 0/1:-761.162,0,-695:608:288:306:10937:10315:288,306 0/1:-664.415,0,-428.11:462:189:272:9387:6598 1/1:-835.865,-83.0843,0:279:0:276:9831:0 0/1:-647.725,0,-483.96:461:198:260:9235:7215 1/1:-1543.8,-152.923,0:510:0:508:18514:0:0,508 0/1:-695.07,0,-549.559:514:229:278:9940:8229 1/1:-901.619,-91.2121,0:303:0:303:10643:0 1/1:-1249.41,-123.315,0:424:1:420:14805:39 0/1:-598.399,0,-683.64:520:272:244:8867:9780:272,244 0/1:-413.768,0,-64.3613:196:40:154:5441:1410:40,154 0/1:-264.089,0,-200.043:198:87:108:3801:2998 1/1:-1815.64,-175.5,0:586:0:583:21131:0 . . 0/1:-780.462,0,-479.705:552:219:328:11047:7530 0/1:-814.329,0,-607.292:588:260:323:11664:9113:260,323 1/1:-957.847,-94.2224,0:316:0:313:11039:0 0/1:-752.663,0,-704.365:623:297:321:11047:10312 0/1:-377.534,0,-380.674:310:152:156:5557:5556 . . 1/1:-1164.06,-115.918,0:388:1:386:13561:12 0/1:-365.516,0,-415.588:330:171:154:5505:6042 1/1:-602.209,-58.7009,0:195:0:195:7059:0 0/1:-529.463,0,-553.698:447:223:218:7735:8076 +chr1 228402508 . C T 2409.36 . AB=0;ABP=0;AC=30;AF=1;AN=50;AO=161;CIGAR=1X;DP=4162;DPB=162;DPRA=0;EPP=27.9485;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=217.762;PAIRED=0.993789;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5962;QR=38;RO=1;RPL=30;RPP=140.595;RPPR=5.18177;RPR=131;RUN=1;SAF=128;SAP=124.734;SAR=33;SF=0,1,3,4,5,8,9,11,12,13,15,17,20,21,22,24,25,26,27,29,30,31,32,34,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-512.387,-45.1124,0:162:1:161:5962:38:1,161 0/1:-61.2874,0,-72.708:52:28:24:903:1012 . 0/1:-248.665,0,-205.615:180:83:96:3527:2998:83,96 0/1:-279.593,0,-270.979:213:106:106:3989:3865 0/1:-253.063,0,-229.945:189:91:97:3599:3293:91,97 . . 0/1:-184.673,0,-146.004:130:59:70:2581:2127 0/1:-187.902,0,-191.217:149:74:75:2683:2715:74,75 . 0/1:-329.888,0,-225.455:223:95:127:4600:3372 0/1:-273.138,0,-326.245:239:128:111:3976:4575:128,111 0/1:-218.459,0,-261.912:192:101:91:3183:3689 . 0/1:-237.583,0,-246.152:192:97:94:3402:3494 . 0/1:-255.517,0,-238.735:191:92:99:3615:3408 . . 0/1:-326.965,0,-245.269:221:99:122:4552:3594:99,122 0/1:-36.5508,0,-171.76:81:62:19:701:2268:62,19 0/1:-80.7933,0,-118.911:78:45:33:1209:1635 . 1/1:-160.502,-15.3525,0:51:0:51:1867:0:0,51 1/1:-702.629,-67.5369,0:229:1:228:8173:14:1,228 0/1:-282.566,0,-201.013:203:86:117:3992:3039 0/1:-260.631,0,-264.607:211:104:105:3764:3767:104,105 . 0/1:-352.131,0,-345.728:282:140:142:5129:4959 0/1:-104.441,0,-157.884:103:61:42:1561:2177 1/1:-390.296,-36.2298,0:125:1:124:4564:14 1/1:-499.809,-47.5627,0:158:0:158:5774:0 . 0/1:-132.016,0,-166.444:113:62:51:1917:2309 . 0/1:-258.356,0,-240.993:195:94:101:3659:3449 +chr1 228404169 . G A 3837.05 . AB=0.541667;ABP=7.35324;AC=1;AF=0.5;AN=2;AO=156;CIGAR=1X;DP=288;DPB=288;DPRA=0;EPP=25.2818;EPPR=20.1148;GTI=0;LEN=1;MEANALT=2;MQM=41.7179;MQMR=40.7;NS=1;NUMALT=1;ODDS=675.498;PAIRED=0.980769;PAIREDR=0.969231;PAO=0;PQA=0;PQR=0;PRO=0;QA=5622;QR=4730;RO=130;RPL=44;RPP=67.375;RPPR=126.55;RPR=112;RUN=1;SAF=84;SAP=5.01474;SAR=72;SF=16;SRF=67;SRP=3.27756;SRR=63;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon7:c.G2143A:p.E715K,OBSCN:NM_001271223:exon7:c.G2143A:p.E715K,OBSCN:NM_052843:exon7:c.G2143A:p.E715K;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs763115286;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.196;SIFT_converted_rankscore=0.207;SIFT_pred=T;Polyphen2_HDIV_score=0.238;Polyphen2_HDIV_rankscore=0.291;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.145;Polyphen2_HVAR_rankscore=0.322;Polyphen2_HVAR_pred=B;LRT_score=0.018;LRT_converted_rankscore=0.276;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.745;MutationAssessor_score_rankscore=0.190;MutationAssessor_pred=N;FATHMM_score=3.53;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-0.76;PROVEAN_converted_rankscore=0.258;PROVEAN_pred=N;VEST3_score=0.032;VEST3_rankscore=0.114;MetaSVM_score=-0.886;MetaSVM_rankscore=0.493;MetaSVM_pred=T;MetaLR_score=0.010;MetaLR_rankscore=0.036;MetaLR_pred=T;M-CAP_score=0.072;M-CAP_rankscore=0.716;M-CAP_pred=D;REVEL_score=0.051;REVEL_rankscore=0.147;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.214;CADD_raw_rankscore=0.327;CADD_phred=17.60;DANN_score=0.998;DANN_rankscore=0.912;fathmm-MKL_coding_score=0.601;fathmm-MKL_coding_rankscore=0.308;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.286;Eigen-PC-raw=-0.110;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.458;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.89;GERP++_RS_rankscore=0.439;phyloP100way_vertebrate=2.787;phyloP100way_vertebrate_rankscore=0.472;phyloP20way_mammalian=0.902;phyloP20way_mammalian_rankscore=0.416;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.835;phastCons20way_mammalian_rankscore=0.348;SiPhy_29way_logOdds=3.378;SiPhy_29way_logOdds_rankscore=0.068;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=0.0011;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0014;AF=0.0003;AF_popmax=0.0006;AF_male=0.0005;AF_female=7.179e-05;AF_raw=0.0003;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;non_topmed_AF_popmax=0.0004;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-400.179,0,-315.753:288:130:156:5622:4730:130,156 . . . . . . . . . . . . . . . . . . . . +chr1 228404198 . G A 3232.36 . AB=0.66;ABP=25.2462;AC=3;AF=0.5;AN=6;AO=66;CIGAR=1X;DP=664;DPB=100;DPRA=0;EPP=6.30041;EPPR=9.39698;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=145.158;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2449;QR=1204;RO=34;RPL=27;RPP=7.74806;RPPR=39.7976;RPR=39;RUN=1;SAF=39;SAP=7.74806;SAR=27;SF=24,32,34;SRF=21;SRP=7.09778;SRR=13;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-182.949,0,-74.98:100:34:66:2449:1204:34,66 . . . . . . . 0/1:-420.675,0,-263.42:269:110:159:5778:3959 . 0/1:-394.681,0,-355.927:295:141:154:5565:5119 . . +chr1 228404305 . G A 1943.93 . AB=0.438144;ABP=9.45756;AC=1;AF=0.5;AN=2;AO=85;CIGAR=1X;DP=194;DPB=194;DPRA=0;EPP=3.24022;EPPR=3.03022;GTI=0;LEN=1;MEANALT=1;MQM=41.9529;MQMR=41.3578;NS=1;NUMALT=1;ODDS=447.606;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3025;QR=3815;RO=109;RPL=61;RPP=37.9838;RPPR=13.5489;RPR=24;RUN=1;SAF=48;SAP=6.10145;SAR=37;SF=31;SRF=60;SRP=5.42083;SRR=49;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-205.371,0,-271.191:194:109:85:3025:3815 . . . . . +chr1 228404997 . C T 2063.91 . AB=0.502762;ABP=3.0223;AC=3;AF=0.5;AN=6;AO=91;CIGAR=1X;DP=624;DPB=181;DPRA=0;EPP=20.4059;EPPR=29.5803;GTI=0;LEN=1;MEANALT=2;MQM=41.8022;MQMR=41.1685;NS=1;NUMALT=1;ODDS=441.085;PAIRED=1;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=3365;QR=3221;RO=89;RPL=80;RPP=116.619;RPPR=147.669;RPR=11;RUN=1;SAF=21;SAP=60.3038;SAR=70;SF=11,12,17;SRF=22;SRP=52.4174;SRR=67;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-236.343,0,-222.77:181:89:91:3365:3221 0/1:-228.847,0,-335.095:219:127:92:3412:4621:127,92 . . . . 0/1:-236.872,0,-332.334:224:128:96:3511:4606 . . . . . . . . . . . . . . . . . . . +chr1 228407010 . C T 2664.78 . AB=0;ABP=0;AC=30;AF=1;AN=50;AO=180;CIGAR=1X;DP=4612;DPB=180;DPRA=0;EPP=6.09862;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=39.5389;MQMR=0;NS=1;NUMALT=1;ODDS=254.138;PAIRED=0.994444;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6610;QR=0;RO=0;RPL=66;RPP=30.8051;RPPR=0;RPR=114;RUN=1;SAF=148;SAP=165.34;SAR=32;SF=0,1,3,4,5,8,9,11,12,13,15,17,20,21,22,24,25,26,27,29,30,31,32,34,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-552.256,-54.1854,0:180:0:180:6610:0:0,180 0/1:-83.4861,0,-82.1811:68:34:34:1277:1231 . 0/1:-190.465,0,-219.963:165:85:80:2885:3132:85,80 0/1:-288.858,0,-313.238:240:122:118:4344:4460 0/1:-207.901,0,-325.659:219:127:92:3385:4580:127,92 . . 0/1:-162.357,0,-151.183:127:61:66:2380:2202 0/1:-178.294,0,-210.376:153:81:71:2639:2966:81,71 . 0/1:-238.151,0,-396.836:264:156:107:3706:5545 0/1:-242.474,0,-229.351:197:94:102:3680:3423:94,102 0/1:-180.006,0,-257.698:178:101:77:2722:3632 . 0/1:-205.61,0,-203.959:175:87:88:3133:3026 . 0/1:-322.17,0,-268.266:240:113:125:4680:4158 . . 0/1:-306.952,0,-238.798:222:100:122:4433:3535:100,122 0/1:-69.1635,0,-119.759:82:47:34:1186:1696:47,34 0/1:-145.721,0,-136.916:117:55:61:2117:1992 . 1/1:-394.924,-37.9298,0:126:0:126:4640:0:0,126 1/1:-764.189,-73.8582,0:250:1:249:9079:14:1,249 0/1:-295.506,0,-337.042:267:136:129:4402:4860 0/1:-360.036,0,-277.416:258:115:143:5143:4124:115,143 . 0/1:-316.677,0,-359.336:281:144:135:4792:5172 0/1:-142.095,0,-224.039:148:85:63:2286:3133 1/1:-534.188,-52.6803,0:175:0:175:6259:0 1/1:-550.239,-52.8881,0:181:1:180:6559:16 . 0/1:-164.956,0,-159.839:132:65:67:2475:2340 . 0/1:-261.441,0,-154.665:167:64:102:3745:2372 +chr1 228407059 . G T 3885.48 . AB=0.580808;ABP=25.4708;AC=3;AF=0.5;AN=6;AO=230;CIGAR=1X;DP=1165;DPB=396;DPRA=0;EPP=8.44842;EPPR=22.3659;GTI=0;LEN=1;MEANALT=2;MQM=37.4957;MQMR=39.5741;NS=1;NUMALT=1;ODDS=770.441;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7614;QR=5707;RO=162;RPL=81;RPP=46.6663;RPPR=64.9911;RPR=149;RUN=1;SAF=154;SAP=60.4505;SAR=76;SF=11,12,17;SRF=117;SRP=72.4974;SRR=45;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-494.742,0,-359.616:396:162:230:7614:5707 0/1:-340.6,0,-483.333:370:206:164:5780:7237:206,164 . . . . 0/1:-384.635,0,-542.699:399:218:181:6574:7999 . . . . . . . . . . . . . . . . . . . +chr1 228407260 . G A 8571.74 . AB=0;ABP=0;AC=30;AF=1;AN=50;AO=547;CIGAR=1X;DP=13634;DPB=547;DPRA=0;EPP=25.3403;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.5393;MQMR=0;NS=1;NUMALT=1;ODDS=762.908;PAIRED=0.992687;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=20264;QR=0;RO=0;RPL=365;RPP=135.954;RPPR=0;RPR=182;RUN=1;SAF=199;SAP=91.1435;SAR=348;SF=0,1,3,4,5,8,9,11,12,13,15,17,20,21,22,24,25,26,27,29,30,31,32,34,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-1743.03,-164.663,0:547:0:547:20264:0:0,547 0/1:-349.024,0,-316.708:255:123:132:4967:4590 . 0/1:-702.423,0,-706.674:540:269:270:10048:10097:269,270 0/1:-983.206,0,-861.486:710:336:373:13900:12519 0/1:-896.815,0,-815.854:662:318:344:12769:11805:318,344 . . 0/1:-518.139,0,-606.132:434:230:204:7545:8554 0/1:-692.72,0,-521.401:474:208:266:9675:7713:208,266 . 0/1:-873.339,0,-774.826:667:310:356:12439:11325 0/1:-1058.03,0,-965.642:786:380:406:15056:14067:380,406 0/1:-607.973,0,-670.971:497:255:242:8771:9506 . 0/1:-729.1,0,-784.588:594:305:288:10630:11235 . 0/1:-790.668,0,-830.583:628:320:307:11348:11869 . . 0/1:-804.291,0,-993.021:692:373:318:11792:13959:373,318 0/1:-100.024,0,-595.009:271:213:58:2111:7820:213,58 0/1:-345.027,0,-393.947:290:152:138:5005:5597 . 1/1:-1017.62,-95.2814,0:322:1:320:11806:15:1,320 1/1:-2509.14,-232.092,0:803:4:798:29204:106:4,798 0/1:-716.328,0,-842.283:632:327:305:10540:12052 0/1:-827.943,0,-814.274:631:314:317:11816:11648:314,317 . 0/1:-922.192,0,-1064.04:785:410:373:13463:15097 0/1:-591.179,0,-615.978:470:237:233:8500:8771 1/1:-1118.04,-108.076,0:364:1:363:12978:15 1/1:-1807.03,-173.092,0:575:0:575:21010:0 . 0/1:-637.265,0,-575.466:475:229:245:9122:8354 . 0/1:-623.697,0,-750.811:530:281:249:9056:10563 +chr1 228412227 . TG CA 6504.06 . AB=0;ABP=0;AC=30;AF=1;AN=50;AO=513;CIGAR=2X;DP=14050;DPB=515;DPRA=0;EPP=5.2495;EPPR=0;GTI=0;LEN=2;MEANALT=2;MQM=33.4269;MQMR=0;NS=1;NUMALT=1;ODDS=717.16;PAIRED=0.996101;PAIREDR=0;PAO=2;PQA=71;PQR=0;PRO=0;QA=18248;QR=0;RO=0;RPL=165;RPP=144.766;RPPR=0;RPR=348;RUN=1;SAF=298;SAP=32.1707;SAR=215;SF=0,1,3,4,5,8,9,11,12,13,15,17,20,21,22,24,25,26,27,29,30,31,32,34,36;SRF=0;SRP=0;SRR=0;TYPE=mnp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=OBSCN:NM_001098623:exon9:c.2721_2722CA,OBSCN:NM_052843:exon9:c.2721_2722CA,OBSCN:NM_001271223:exon10:c.2997_2998CA;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs386640006;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0134927;Kaviar_AC=2086;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1358.61,-155.03,0:514:0:513:18248:0:0,513 0/1:-154.336,0,-289.826:206:117:88:3010:4170 . 0/1:-489.8,0,-742.706:589:309:277:9572:11016:309,277 0/1:-664.187,0,-1014.1:743:407:329:11474:14646 0/1:-611.698,0,-860.053:683:355:323:11515:12719:355,323 . . 0/1:-512.053,0,-479.144:464:209:253:8765:7410 0/1:-438.589,0,-640.554:482:267:213:7629:9455:267,213 . 0/1:-609.048,0,-679.539:603:291:301:9956:10102 0/1:-705.28,0,-1031.92:836:437:388:13607:15388:437,388 0/1:-648.317,0,-664.271:607:293:312:10807:10191 . 0/1:-512.228,0,-793.936:642:336:295:9667:11771 . 0/1:-680.411,0,-1064.49:801:432:359:12460:15360 . . 0/1:-592.532,0,-849.112:665:351:306:10821:12449:351,306 0/1:-88.6,0,-272.073:185:118:65:2215:3914:118,65 0/1:-218.921,0,-361.712:279:155:119:3968:5204 . 1/1:-763.293,-86.0946,0:284:0:284:10046:0:0,284 1/1:-1948.35,-219.752,0:733:0:726:25461:0:0,726 0/1:-555.495,0,-828.423:671:364:295:9604:12302 0/1:-580.098,0,-895.227:682:378:298:10457:13113:378,298 . 0/1:-803.089,0,-942.426:840:415:412:13509:14229 0/1:-490.422,0,-683.708:546:287:255:8734:10137 1/1:-875.886,-100.845,0:336:0:335:10872:0 1/1:-1461.45,-162.999,0:568:2:560:19195:74 . 0/1:-412.843,0,-702.479:519:286:227:7792:10248 . 0/1:-479.319,0,-778.525:572:324:246:8421:11333 +chr1 228412308 . G A 10617.75 . AB=0;ABP=0;AC=30;AF=1;AN=50;AO=870;CIGAR=1X;DP=20915;DPB=873;DPRA=0;EPP=5.89561;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=31.9713;MQMR=38.5;NS=1;NUMALT=1;ODDS=1189.13;PAIRED=0.995402;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=32870;QR=73;RO=2;RPL=476;RPP=19.793;RPPR=3.0103;RPR=394;RUN=1;SAF=466;SAP=12.6047;SAR=404;SF=0,1,3,4,5,8,9,11,12,13,15,17,20,21,22,24,25,26,27,29,30,31,32,34,36;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-2284.01,-256.31,0:873:2:870:32870:73:2,870 0/1:-287.984,0,-457.464:349:184:165:6187:6900 . 0/1:-825.819,0,-1067.56:856:431:423:15833:16060:431,423 0/1:-1061.67,0,-1471.15:1099:587:511:19254:21765 0/1:-1019.43,0,-1257.21:1033:514:517:19247:19061:514,517 . . 0/1:-795.848,0,-916.264:778:375:403:15185:13975 0/1:-676.689,0,-1018.07:739:406:333:12486:15101:406,333 . 0/1:-1013.14,0,-1017.78:900:429:470:17312:15757 0/1:-1042.43,0,-1592.18:1165:630:535:20035:23415:630,535 0/1:-866.034,0,-897.128:784:374:409:15123:13741 . 0/1:-811.672,0,-1158.7:896:472:422:15804:17431 . 0/1:-1143.65,0,-1494.51:1170:596:573:21291:22346 . . 0/1:-927.667,0,-1379.99:1020:550:469:17609:20519:550,469 0/1:-163.621,0,-300.955:229:128:101:3738:4609:128,101 0/1:-390.469,0,-542.73:413:222:190:7030:8131 . 1/1:-1155.96,-129.142,0:429:0:429:16291:0:0,429 1/1:-3112.77,-345.961,0:1154:1:1152:42771:13:1,1152 0/1:-947.745,0,-1217.23:979:516:463:16948:18483 0/1:-1025.97,0,-1205.09:993:498:493:18327:18225:498,493 . 0/1:-1310.69,0,-1412.2:1213:591:622:22700:21702 0/1:-812.836,0,-1021.81:821:417:404:15255:15388 1/1:-1351.18,-146.301,0:487:0:486:17953:0 1/1:-2222.84,-249.554,0:829:0:829:31018:0 . 0/1:-759.258,0,-993.792:786:405:381:14378:15114 . 0/1:-772.328,0,-1312.09:920:523:395:14939:19475 +chr1 228431095 . A G 11435.64 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=629;CIGAR=1X;DP=20224;DPB=629;DPRA=0;EPP=11.2992;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.3402;MQMR=0;NS=1;NUMALT=1;ODDS=876.584;PAIRED=0.988871;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=23183;QR=0;RO=0;RPL=496;RPP=457.911;RPPR=0;RPR=133;RUN=1;SAF=257;SAP=48.6665;SAR=372;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1888.26,-189.348,0:629:0:629:23183:0:0,629 1/1:-896.393,-90.2225,0:305:1:304:11234:16 1/1:-2114.6,-217.703,0:726:2:722:26267:43 0/1:-992.121,0,-803.966:745:328:417:15219:12211:328,417 0/1:-936.432,0,-988.641:785:389:396:14442:14508 0/1:-933.653,0,-1037.84:800:408:392:14442:15224:408,392 1/1:-1467.56,-148.609,0:495:1:493:18105:38:1,493 . 0/1:-592.684,0,-743.854:536:287:247:9172:10730 0/1:-599.358,0,-743.343:554:292:259:9519:10847:292,259 . 0/1:-930.625,0,-1059.18:816:424:392:14357:15526 0/1:-1113.56,0,-1197.32:940:474:463:17083:17602:474,463 1/1:-2117.91,-215.236,0:716:0:715:25927:0 . 0/1:-839.52,0,-894.212:714:359:354:12822:13282 0/1:-756.911,0,-836.123:654:330:324:11794:12253:330,324 0/1:-1035.16,0,-885.602:789:360:429:15782:13497 . . 1/1:-2598.49,-258.886,0:860:0:860:31681:0:0,860 0/1:-344.84,0,-350.721:283:138:145:5214:5067:138,145 0/1:-485.062,0,-357.006:348:148:200:7116:5480 1/1:-2408.99,-244.436,0:812:0:812:29908:0 1/1:-1185.54,-115.048,0:404:2:401:14630:70:2,401 1/1:-2682.94,-271.173,0:917:3:914:33264:85:3,914 0/1:-928.037,0,-777.838:727:334:392:14100:11969 0/1:-960.374,0,-838.34:747:344:403:14732:12697:344,403 0/1:-476.195,0,-616.509:460:241:219:7746:8861 0/1:-970.954,0,-1013.35:834:419:415:14900:15130 0/1:-837.505,0,-754.783:646:306:339:12477:11407 1/1:-1242.47,-126.132,0:420:0:419:15467:0 1/1:-1962.32,-199.334,0:668:1:666:24457:16 0/1:-768.876,0,-629.076:571:252:319:11609:9478 0/1:-794.916,0,-678.821:596:275:320:11894:10265 . 0/1:-885.06,0,-870.757:727:352:375:13644:12907 +chr1 228432108 . C A 2785.42 . AB=0.490536;ABP=3.50351;AC=1;AF=0.5;AN=2;AO=311;CIGAR=1X;DP=634;DPB=634;DPRA=0;EPP=3.57586;EPPR=3.56168;GTI=0;LEN=1;MEANALT=3;MQM=18.3633;MQMR=23.5799;NS=1;NUMALT=1;ODDS=641.366;PAIRED=0.990354;PAIREDR=0.981191;PAO=0;PQA=0;PQR=0;PRO=0;QA=10477;QR=10791;RO=319;RPL=97;RPP=98.59;RPPR=158.22;RPR=214;RUN=1;SAF=181;SAP=21.1711;SAR=130;SF=0;SRF=171;SRP=6.61127;SRR=148;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon11:c.C3317A:p.T1106K,OBSCN:NM_052843:exon11:c.C3317A:p.T1106K,OBSCN:NM_001271223:exon12:c.C3593A:p.T1198K;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368159429;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.405;SIFT_converted_rankscore=0.103;SIFT_pred=T;Polyphen2_HDIV_score=0.022;Polyphen2_HDIV_rankscore=0.261;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.036;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.029;LRT_converted_rankscore=0.255;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.195;MutationAssessor_score_rankscore=0.092;MutationAssessor_pred=N;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-1.2;PROVEAN_converted_rankscore=0.348;PROVEAN_pred=N;VEST3_score=0.229;VEST3_rankscore=0.281;MetaSVM_score=-0.993;MetaSVM_rankscore=0.319;MetaSVM_pred=T;MetaLR_score=0.112;MetaLR_rankscore=0.402;MetaLR_pred=T;M-CAP_score=0.085;M-CAP_rankscore=0.745;M-CAP_pred=D;REVEL_score=0.156;REVEL_rankscore=0.412;MutPred_score=0.647;MutPred_rankscore=0.785;CADD_raw=0.266;CADD_raw_rankscore=0.120;CADD_phred=5.354;DANN_score=0.742;DANN_rankscore=0.102;fathmm-MKL_coding_score=0.015;fathmm-MKL_coding_rankscore=0.048;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.256;Eigen-PC-raw=-1.134;GenoCanyon_score=0.036;GenoCanyon_score_rankscore=0.142;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=1.72;GERP++_RS_rankscore=0.234;phyloP100way_vertebrate=1.994;phyloP100way_vertebrate_rankscore=0.401;phyloP20way_mammalian=0.005;phyloP20way_mammalian_rankscore=0.136;phastCons100way_vertebrate=0.903;phastCons100way_vertebrate_rankscore=0.313;phastCons20way_mammalian=0.930;phastCons20way_mammalian_rankscore=0.404;SiPhy_29way_logOdds=6.887;SiPhy_29way_logOdds_rankscore=0.232;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=6.629e-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=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1925937|N/A|TRIM28|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-297.735,0,-435.587:634:319:311:10477:10791:319,311 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228432264 . A T 996.33 . AB=0.455959;ABP=6.26188;AC=5;AF=0.5;AN=10;AO=88;CIGAR=1X;DP=909;DPB=193;DPRA=0;EPP=4.58955;EPPR=21.4568;GTI=0;LEN=1;MEANALT=2;MQM=26.6023;MQMR=23.2626;NS=1;NUMALT=1;ODDS=221.738;PAIRED=0.977273;PAIREDR=0.979798;PAO=0;PQA=0;PQR=0;PRO=0;QA=2831;QR=3417;RO=99;RPL=72;RPP=80.3937;RPPR=107.438;RPR=16;RUN=1;SAF=24;SAP=42.4916;SAR=64;SF=12,13,27,29,30;SRF=20;SRP=79.3628;SRR=79;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-115.35,0,-130.228:193:99:88:2831:3417:99,88 0/1:-115.95,0,-106.267:175:93:77:2526:2955 . . . . . . . . . . . . . 0/1:-120.855,0,-136.917:179:91:86:2830:3109:91,86 . 0/1:-168.09,0,-145.542:257:125:126:3962:3953 0/1:-69.8325,0,-72.7431:105:51:51:1621:1689 . . . . . . +chr1 228433217 . A G 4380.80 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=615;CIGAR=1X;DP=18890;DPB=616;DPRA=0;EPP=3.09857;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=16.374;MQMR=2;NS=1;NUMALT=1;ODDS=853.758;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=21473;QR=39;RO=1;RPL=143;RPP=385.193;RPPR=5.18177;RPR=472;RUN=1;SAF=348;SAP=26.1762;SAR=267;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-891.437,-185.235,0:616:1:615:21473:39:1,615 1/1:-523.821,-88.2018,0:293:0:293:9756:0 1/1:-1017.87,-211.177,0:705:1:701:23716:37 0/1:-230.421,0,-514.624:601:306:291:9949:10639:306,291 0/1:-420.653,0,-525.437:826:355:466:16057:12381 0/1:-288.453,0,-697.856:815:426:384:13143:14966:426,384 1/1:-837.252,-178.39,0:597:2:595:20349:70:2,595 . 0/1:-201.074,0,-378.616:516:251:261:9009:8762 0/1:-255.421,0,-416.988:574:272:302:10609:9402:272,302 . 0/1:-287.699,0,-468.256:678:321:351:11396:10652 0/1:-420.106,0,-675.454:904:428:470:16483:14966:428,470 1/1:-874.685,-192.874,0:644:1:643:21360:16 . 0/1:-319.388,0,-459.417:640:278:359:12167:9852 0/1:-259.627,0,-438.983:631:300:324:11179:10350:300,324 0/1:-353.507,0,-602.525:808:380:426:15001:13193 . . 1/1:-1037.76,-218.643,0:745:5:739:25350:157:5,739 0/1:-64.4172,0,-157.696:153:83:70:2139:2604:83,70 0/1:-108.928,0,-217.824:307:149:156:4984:4833 1/1:-1087.4,-223.373,0:750:3:746:25885:90 1/1:-458.852,-98.7378,0:329:0:328:11001:0:0,328 1/1:-1111.23,-240.845,0:822:4:816:27404:100:4,816 0/1:-289.57,0,-466.742:742:355:378:12389:12036 0/1:-305.398,0,-512.524:749:350:394:13095:11991:350,394 0/1:-237.242,0,-336.436:391:187:203:6773:6136 0/1:-286.813,0,-586.704:792:398:388:12654:13307 0/1:-251.569,0,-398.95:547:253:293:9980:8767 1/1:-533.225,-123.121,0:410:0:409:13128:0 1/1:-859.071,-180.474,0:612:2:609:20463:77 0/1:-266.268,0,-310.867:505:214:288:9880:7471 0/1:-220.918,0,-431.905:560:273:283:9653:9694 . 0/1:-249.7,0,-481.281:628:298:327:11125:10309 +chr1 228434395 . T C 10643.71 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=728;CIGAR=1X;DP=22885;DPB=729;DPRA=0;EPP=11.7081;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=31.8516;MQMR=0;NS=1;NUMALT=1;ODDS=1013.83;PAIRED=0.995879;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=26375;QR=0;RO=0;RPL=457;RPP=106.203;RPPR=0;RPR=271;RUN=1;SAF=392;SAP=12.3643;SAR=336;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1872.93,-219.15,0:729:0:728:26375:0:0,728 1/1:-734.012,-90.9111,0:303:0:302:11018:0 1/1:-2149.02,-262.97,0:875:1:873:30669:38 0/1:-705.888,0,-881.987:762:378:384:13617:13513:378,384 0/1:-880.934,0,-1264.06:986:518:468:16892:18862 0/1:-881.839,0,-1247.07:973:511:459:16606:18729:511,459 1/1:-1469.6,-172.257,0:577:1:575:20598:14:1,575 . 0/1:-580.006,0,-817.224:653:337:314:11326:12263 0/1:-702.325,0,-777.549:694:337:355:12700:12102:337,355 . 0/1:-744.915,0,-887.44:785:387:397:13962:13650 0/1:-1048.6,0,-1200.57:1072:516:555:19729:18647:516,555 1/1:-1969.11,-223.809,0:778:4:770:27263:105 . 0/1:-790.865,0,-905.56:809:395:412:14596:14081 0/1:-743.888,0,-823.905:754:356:395:14156:12885:356,395 0/1:-967.61,0,-1136.25:994:485:505:18270:17596 . . 1/1:-2397.42,-289.591,0:964:0:962:34725:0:0,962 0/1:-154.618,0,-278.48:217:121:95:3268:4197:121,95 0/1:-285.84,0,-502.308:374:218:155:5369:7583 1/1:-2172.8,-257.08,0:854:0:854:30968:0 1/1:-961.904,-111.983,0:372:0:372:13382:0:0,372 1/1:-2578.83,-306.449,0:1020:0:1018:36210:0:0,1018 0/1:-863.957,0,-1091.31:944:479:461:16017:16863 0/1:-891.836,0,-1128.77:956:496:457:16351:17453:496,457 0/1:-427.506,0,-610.394:530:268:257:8986:9394 0/1:-959.484,0,-1119.62:1004:492:510:17640:17440 0/1:-641.696,0,-749.854:653:320:332:11972:11510 1/1:-1185.6,-133.689,0:456:1:455:16093:37 1/1:-1757.8,-210.721,0:700:0:700:25083:0 0/1:-543.305,0,-926.585:677:378:298:10531:13675 0/1:-629.641,0,-585.438:593:261:330:11789:9461 . 0/1:-740.146,0,-966.848:827:414:412:14467:14823 +chr1 228434467 . T C 6392.88 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=367;CIGAR=1X;DP=11718;DPB=367;DPRA=0;EPP=38.0911;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.6839;MQMR=0;NS=1;NUMALT=1;ODDS=513.375;PAIRED=0.997275;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=13263;QR=0;RO=0;RPL=261;RPP=145.162;RPPR=0;RPR=106;RUN=1;SAF=154;SAP=23.6067;SAR=213;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1087.86,-110.478,0:367:0:367:13263:0:0,367 1/1:-532.109,-54.1854,0:181:0:180:6564:0 1/1:-1276.02,-132.981,0:453:2:448:15917:28 0/1:-395.923,0,-438.196:368:182:183:6529:6464:182,183 0/1:-529.86,0,-625.082:480:249:229:8318:9109 0/1:-584.15,0,-742.766:543:293:250:9115:10676:293,250 1/1:-968.639,-101.146,0:336:0:336:11979:0:0,336 . 0/1:-337.61,0,-421.669:310:164:146:5275:6044 0/1:-439.532,0,-368.25:342:155:187:6719:5579:155,187 . 0/1:-455.059,0,-577.133:439:234:204:7224:8353 0/1:-655.133,0,-567.811:515:239:275:9975:8588:239,275 1/1:-1357.51,-137.415,0:481:2:476:16871:74 . 0/1:-521.851,0,-390.598:381:164:217:7687:5979 0/1:-414.133,0,-460.392:358:180:177:6485:6709:180,177 0/1:-451.188,0,-574.355:422:226:195:7088:8295 . . 1/1:-1272.03,-131.55,0:439:0:437:15801:0:0,437 0/1:-132.981,0,-214.227:153:87:65:2171:3033:87,65 0/1:-183.953,0,-290.72:215:121:91:3006:4176 1/1:-1236.29,-125.831,0:419:0:418:15306:0 1/1:-614.736,-62.9153,0:209:0:209:7551:0:0,209 1/1:-1574.93,-163.76,0:545:0:544:19281:0:0,544 0/1:-557.618,0,-586.062:515:253:257:8848:8834 0/1:-547.71,0,-599.672:483:243:237:8437:8866:243,237 0/1:-354.137,0,-301.71:285:124:161:5573:4537 0/1:-649.791,0,-635.939:562:272:290:10169:9509 0/1:-399.884,0,-374.126:324:155:169:6063:5571 1/1:-820.973,-82.7411,0:287:1:286:10078:38 1/1:-1013.75,-105.059,0:351:0:349:12410:0 0/1:-337.931,0,-489.739:337:189:147:5289:6952 0/1:-324.205,0,-320.22:268:131:137:4855:4827 . 0/1:-378.496,0,-443.462:350:178:172:6159:6500 +chr1 228444565 . T A 14194.32 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=636;CIGAR=1X;DP=23934;DPB=638;DPRA=0;EPP=7.9405;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=29.9277;MQMR=0;NS=1;NUMALT=1;ODDS=886.288;PAIRED=0.995283;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=21498;QR=0;RO=0;RPL=430;RPP=174.324;RPPR=0;RPR=206;RUN=1;SAF=289;SAP=14.4959;SAR=347;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1466.75,-191.455,0:638:0:636:21498:0:0,636 1/1:-579.634,-81.2781,0:272:0:270:8956:0 1/1:-1622.8,-218.074,0:748:2:734:23642:39 1/1:-1386.09,-182.849,0:621:1:610:20373:12:1,610 1/1:-1923.7,-254.972,0:847:0:847:28640:0 1/1:-1907.75,-248.499,0:832:1:828:27886:12:1,828 1/1:-1262.92,-169.781,0:570:0:564:18872:0:0,564 1/1:-2021.5,-261.524,0:882:2:876:29540:64 1/1:-1240.43,-167.373,0:561:0:556:18141:0 1/1:-1227.49,-164.611,0:560:2:552:17909:24:2,552 1/1:-1411.7,-191.584,0:656:1:639:20821:14:1,639 1/1:-1879.84,-246.785,0:832:1:823:26453:14 1/1:-2061.73,-280.101,0:944:1:933:31073:12:1,933 1/1:-1644.26,-213.373,0:724:1:712:23171:14 1/1:-1168.71,-150.962,0:513:2:508:16850:29 1/1:-1635.62,-215.875,0:756:3:736:24446:76 1/1:-1463.32,-192.784,0:656:1:643:21358:12:1,643 1/1:-1780.76,-237.666,0:803:1:793:26038:15 1/1:-1041.17,-139.791,0:478:2:471:15011:30 1/1:-1455.29,-198.486,0:676:2:663:21264:26 1/1:-1715.76,-231.022,0:784:1:771:25970:16:1,771 1/1:-407.026,-57.1957,0:192:0:190:6018:0:0,190 1/1:-733.099,-98.7378,0:329:0:328:10249:0 1/1:-1793.21,-233.48,0:780:1:779:26794:14 1/1:-799.112,-104.758,0:351:0:348:11718:0:0,348 1/1:-2139.48,-282.288,0:953:2:944:31117:28:2,944 1/1:-1690.84,-229.63,0:784:2:768:23872:27 1/1:-1778.4,-228.282,0:772:2:764:24936:26:2,764 1/1:-865.904,-133.657,0:453:0:444:13376:0 1/1:-2062.96,-274.966,0:927:1:916:29412:12 1/1:-1376.5,-187.843,0:630:0:624:20329:0 1/1:-1032.83,-134.56,0:449:0:447:14395:0 1/1:-1528.63,-202.894,0:682:0:674:22168:0 1/1:-1545.46,-205.302,0:684:0:682:22601:0 1/1:-1229.02,-165.567,0:554:0:550:17657:0 1/1:-911.519,-118.004,0:392:0:392:13181:0 1/1:-1464.14,-193.562,0:649:0:643:20775:0 +chr1 228447463 . G A 1950.62 . AB=0.496503;ABP=3.02549;AC=2;AF=0.5;AN=4;AO=71;CIGAR=1X;DP=342;DPB=143;DPRA=0;EPP=5.48761;EPPR=6.02623;GTI=0;LEN=1;MEANALT=1;MQM=38.8028;MQMR=38.7639;NS=1;NUMALT=1;ODDS=339.371;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2490;QR=2578;RO=72;RPL=56;RPP=54.4222;RPPR=61.3988;RPR=15;RUN=1;SAF=16;SAP=49.5287;SAR=55;SF=24,34;SRF=19;SRP=37.8745;SRR=53;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-163.16,0,-170.79:143:72:71:2490:2578:72,71 . . . . . . . . . 0/1:-262.111,0,-221.326:199:93:106:3943:3286 . . +chr1 228451826 . C T 2794.73 . AB=0.568807;ABP=7.4927;AC=12;AF=0.5;AN=18;AO=62;CIGAR=1X;DP=1992;DPB=109;DPRA=0;EPP=5.25182;EPPR=16.956;GTI=0;LEN=1;MEANALT=3;MQM=25.5484;MQMR=25.8;NS=1;NUMALT=1;ODDS=123.901;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2146;QR=1694;RO=45;RPL=19;RPP=23.184;RPPR=33.1696;RPR=43;RUN=1;SAF=48;SAP=43.4978;SAR=14;SF=1,2,6,13,16,20,23,28,33;SRF=35;SRP=33.1696;SRR=10;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-96.6348,0,-67.9158:109:45:62:2146:1694 1/1:-613.253,-78.4592,0:271:2:267:9151:28 . . . 1/1:-504.197,-60.3091,0:219:3:212:7472:62:3,212 . . . . . . 0/1:-158.421,0,-297.533:247:144:102:3425:5245 . . 0/1:-149.751,0,-248.374:203:113:90:3134:4143:113,90 . . . 0/1:-250.545,0,-292.784:297:147:148:5268:5305:147,148 . . 1/1:-621.362,-76.5311,0:261:1:258:9302:16 . . . . 0/1:-80.0346,0,-198.114:185:112:72:2391:4142 . . . . 0/1:-191.159,0,-183.775:200:97:103:3662:3551 . . . +chr1 228452016 . G C 7523.52 . AB=0.470528;ABP=10.4339;AC=1;AF=0.5;AN=2;AO=463;CIGAR=1X;DP=984;DPB=984;DPRA=0;EPP=48.977;EPPR=69.563;GTI=0;LEN=1;MEANALT=2;MQM=28.1793;MQMR=33.7741;NS=1;NUMALT=1;ODDS=1732.35;PAIRED=0.987041;PAIREDR=0.990347;PAO=0;PQA=0;PQR=0;PRO=0;QA=16739;QR=19199;RO=518;RPL=283;RPP=52.7666;RPPR=121.326;RPR=180;RUN=1;SAF=213;SAP=9.43092;SAR=250;SF=17;SRF=261;SRP=3.07737;SRR=257;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-771.178,0,-1156.41:984:518:463:16739:19199 . . . . . . . . . . . . . . . . . . . +chr1 228456398 . G A 6966.74 . AB=0.533063;ABP=10.0463;AC=1;AF=0.5;AN=2;AO=395;CIGAR=1X;DP=741;DPB=741;DPRA=0;EPP=5.91842;EPPR=3.77633;GTI=0;LEN=1;MEANALT=2;MQM=28.7873;MQMR=34.3469;NS=1;NUMALT=1;ODDS=1604.15;PAIRED=0.946835;PAIREDR=0.900875;PAO=0;PQA=0;PQR=0;PRO=0;QA=14362;QR=12222;RO=343;RPL=202;RPP=3.45559;RPPR=15.8302;RPR=193;RUN=1;SAF=197;SAP=3.0158;SAR=198;SF=10;SRF=165;SRP=4.08021;SRR=178;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon17:c.G5029A:p.V1677M,OBSCN:NM_052843:exon17:c.G5029A:p.V1677M,OBSCN:NM_001271223:exon19:c.G5581A:p.V1861M;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368761334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.105;SIFT_converted_rankscore=0.299;SIFT_pred=T;Polyphen2_HDIV_score=0.084;Polyphen2_HDIV_rankscore=0.395;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.387;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.008;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.197;MutationTaster_pred=N;MutationAssessor_score=1.27;MutationAssessor_score_rankscore=0.322;MutationAssessor_pred=L;FATHMM_score=-0.27;FATHMM_converted_rankscore=0.674;FATHMM_pred=T;PROVEAN_score=0.03;PROVEAN_converted_rankscore=0.072;PROVEAN_pred=N;VEST3_score=0.053;VEST3_rankscore=0.058;MetaSVM_score=-0.832;MetaSVM_rankscore=0.532;MetaSVM_pred=T;MetaLR_score=0.149;MetaLR_rankscore=0.476;MetaLR_pred=T;M-CAP_score=0.104;M-CAP_rankscore=0.779;M-CAP_pred=D;REVEL_score=0.060;REVEL_rankscore=0.177;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.015;CADD_raw_rankscore=0.191;CADD_phred=10.75;DANN_score=0.984;DANN_rankscore=0.402;fathmm-MKL_coding_score=0.052;fathmm-MKL_coding_rankscore=0.109;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.542;Eigen-PC-raw=-1.715;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=-10.2;GERP++_RS_rankscore=0.003;phyloP100way_vertebrate=-0.714;phyloP100way_vertebrate_rankscore=0.051;phyloP20way_mammalian=-4.057;phyloP20way_mammalian_rankscore=0.000;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=2.508;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=.;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0015;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=0.0003;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=0.0002;Kaviar_AF=0.0001876;Kaviar_AC=29;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000021283|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.510745;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-705.527,0,-722.996:741:343:395:14362:12222:343,395 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228461097 . C G 6780.76 . AB=0.47136;ABP=8.98055;AC=2;AF=0.5;AN=4;AO=395;CIGAR=1X;DP=1543;DPB=838;DPRA=0;EPP=10.5362;EPPR=13.8874;GTI=0;LEN=1;MEANALT=3;MQM=33.962;MQMR=34.1088;NS=1;NUMALT=1;ODDS=1756.9;PAIRED=0.992405;PAIREDR=0.988662;PAO=0;PQA=0;PQR=0;PRO=0;QA=13998;QR=15807;RO=441;RPL=120;RPP=135.085;RPPR=140.335;RPR=275;RUN=1;SAF=236;SAP=35.6044;SAR=159;SF=13,33;SRF=257;SRP=29.2502;SRR=184;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-788.866,0,-934.221:838:441:395:13998:15807 . . . . . . . . . . . . . . . . . . . 0/1:-628.588,0,-973.092:705:394:311:11240:14328 . . . +chr1 228461129 . A G 12468.20 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=763;CIGAR=1X;DP=25049;DPB=764;DPRA=0;EPP=29.788;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=32.3067;MQMR=0;NS=1;NUMALT=1;ODDS=1062.35;PAIRED=0.996068;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=27782;QR=0;RO=0;RPL=383;RPP=3.03591;RPPR=0;RPR=380;RUN=1;SAF=400;SAP=6.90643;SAR=363;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-1999.67,-229.686,0:764:0:763:27782:0:0,763 1/1:-776.359,-97.2327,0:324:0:323:12048:0 1/1:-2280.61,-260.692,0:866:0:866:31092:0 0/1:-751.461,0,-1032.67:788:417:371:13585:15390:417,371 0/1:-1144.99,0,-1093.56:1018:472:545:20092:17494 0/1:-1041.92,0,-1307.99:1026:519:504:18265:19421:519,504 1/1:-1916.89,-214.391,0:721:1:719:26438:36:1,719 . 0/1:-659.241,0,-791.009:658:329:327:11898:12105 0/1:-798.071,0,-907.307:767:372:393:14516:13774:372,393 . 0/1:-995.85,0,-956.723:879:413:466:16610:14715 0/1:-1333.41,0,-1453.04:1269:601:668:24325:22157:601,668 1/1:-2344.74,-261.492,0:876:2:873:31107:41 . 0/1:-842.948,0,-1040.67:857:433:424:15428:15975 0/1:-782.19,0,-1193.11:878:481:396:14537:17729:481,396 0/1:-944.37,0,-1333.59:1005:534:469:17073:19835 . . 1/1:-2915.01,-332.638,0:1108:0:1105:40136:0:0,1105 0/1:-239.209,0,-216.269:230:104:124:4367:3566:104,124 0/1:-344.672,0,-489.883:384:208:173:6197:7275 1/1:-2648.04,-303.497,0:1023:1:1018:37312:37 1/1:-1256.23,-140.28,0:466:0:466:17333:0:0,466 1/1:-3063.38,-335.84,0:1170:7:1161:41769:192:7,1161 0/1:-877.579,0,-1159:949:492:454:15883:17547 0/1:-1113.14,0,-1153.81:1018:486:530:19068:17611:486,530 0/1:-488.313,0,-725.2:593:314:277:9803:11119 0/1:-930.487,0,-1449.63:1071:596:475:16996:21391 0/1:-727.131,0,-789.657:703:337:365:13251:12221 1/1:-1434.72,-161.653,0:538:0:537:18914:0 1/1:-2113.34,-234.348,0:795:2:793:28971:75 0/1:-753.14,0,-972.115:744:394:350:12777:14439 0/1:-690.292,0,-945.721:735:384:351:12723:14087 . 0/1:-741.764,0,-1099.7:826:444:379:13700:16430 +chr1 228461187 . T C 8210.95 . AB=0.422703;ABP=51.0151;AC=1;AF=0.5;AN=2;AO=391;CIGAR=1X;DP=925;DPB=925;DPRA=0;EPP=41.2693;EPPR=73.8637;GTI=0;LEN=1;MEANALT=1;MQM=37.4322;MQMR=35.8015;NS=1;NUMALT=1;ODDS=1890.64;PAIRED=0.98977;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=13899;QR=18976;RO=534;RPL=245;RPP=57.4415;RPPR=152.915;RPR=146;RUN=1;SAF=171;SAP=16.3446;SAR=220;SF=4;SRF=246;SRP=10.1835;SRR=288;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . 0/1:-844.341,0,-1201.48:925:534:391:13899:18976 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228461757 . G A 1771.72 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=119;CIGAR=1X;DP=1951;DPB=120;DPRA=0;EPP=25.3637;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=169.574;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4505;QR=0;RO=0;RPL=79;RPP=30.765;RPPR=0;RPR=40;RUN=1;SAF=52;SAP=7.11603;SAR=67;SF=0,1,3,4,8,9,11,15,20,21,22,24,26,32,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-389.626,-35.8226,0:120:0:119:4505:0:0,119 0/1:-66.1145,0,-75.2929:55:29:26:952:1092 . 0/1:-180.223,0,-153.362:129:60:69:2554:2216:60,69 0/1:-200.863,0,-255.534:177:96:80:2929:3584 . . . 0/1:-156.412,0,-147.53:117:58:59:2214:2139 0/1:-140.241,0,-215.214:140:81:59:2099:2959:81,59 . 0/1:-248.544,0,-173.247:167:73:93:3444:2573 . . . 0/1:-187.933,0,-165.477:138:65:73:2649:2399 . . . . 0/1:-268.205,0,-233.221:198:94:104:3800:3380:94,104 0/1:-26.3318,0,-111.214:54:40:13:486:1462:40,13 0/1:-73.6731,0,-68.1011:56:26:28:1034:970 . 1/1:-156.317,-15.0515,0:50:0:50:1797:0:0,50 . 0/1:-254.379,0,-249.75:203:98:105:3635:3592 . . . . . 1/1:-378.352,-34.6244,0:120:1:119:4382:15 . 0/1:-140.925,0,-153.103:116:60:56:2037:2155 . 0/1:-139.674,0,-133.883:111:54:56:2010:1938 +chr1 228464248 . T G 7473.06 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=532;CIGAR=1X;DP=14239;DPB=534;DPRA=0;EPP=63.7625;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=39.9192;MQMR=21.5;NS=1;NUMALT=1;ODDS=733.9;PAIRED=0.986842;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=17737;QR=45;RO=2;RPL=215;RPP=45.4765;RPPR=7.35324;RPR=317;RUN=1;SAF=280;SAP=6.21036;SAR=252;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1499.17,-159.326,0:534:2:532:17737:45:2,532 1/1:-566.33,-59.6039,0:198:0:198:6605:0 1/1:-1173.2,-122.82,0:408:0:408:13855:0 0/1:-434.738,0,-511.146:417:215:197:6674:7462:215,197 0/1:-885.462,0,-542.385:636:258:375:12519:8578 0/1:-859.076,0,-731.995:704:324:373:12635:11000:324,373 1/1:-861.445,-82.6321,0:298:2:296:10358:78:2,296 . 0/1:-560.274,0,-413.283:435:184:249:8162:6363 0/1:-547.561,0,-474.64:458:216:237:8160:7182:216,237 . 0/1:-428.95,0,-614.081:497:276:217:6880:9024 0/1:-700.356,0,-854.123:658:354:302:10561:12288:354,302 1/1:-1139.58,-122.81,0:420:2:417:13459:41 . 0/1:-457.816,0,-687.176:510:292:216:7221:9793 0/1:-609.878,0,-673.033:566:294:266:9206:9863:294,266 0/1:-754.428,0,-432.586:526:199:323:10789:6872 . . 1/1:-1931.33,-201.117,0:672:1:671:22866:12:1,671 0/1:-329.232,0,-59.2611:182:45:135:4466:1326:45,135 0/1:-193.658,0,-157.695:178:78:97:2922:2493 1/1:-1809.91,-191.325,0:638:1:637:21332:15 1/1:-564.477,-58.0988,0:194:0:193:6705:0:0,193 1/1:-1794.73,-193.562,0:644:0:643:21378:0:0,643 0/1:-441.667,0,-676.294:541:304:234:7241:9882 0/1:-373.353,0,-655.787:491:296:187:6219:9417:296,187 0/1:-297.885,0,-372.836:301:158:141:4515:5371 0/1:-577.661,0,-844.082:675:370:301:9422:12249 0/1:-428.502,0,-404.479:369:181:186:6416:6020 1/1:-786.299,-86.8485,0:294:1:291:9328:12 1/1:-1012.24,-105.078,0:356:1:355:11994:25 0/1:-559.126,0,-483.057:461:213:245:8279:7212 0/1:-428.763,0,-566.744:437:235:201:6599:8137 . 0/1:-577.573,0,-627.326:541:280:258:8617:9258 +chr1 228464255 . T C 3688.31 . AB=0.397149;ABP=48.1247;AC=1;AF=0.5;AN=2;AO=195;CIGAR=1X;DP=491;DPB=491;DPRA=0;EPP=44.4464;EPPR=52.6735;GTI=0;LEN=1;MEANALT=3;MQM=38.159;MQMR=40.5034;NS=1;NUMALT=1;ODDS=849.265;PAIRED=0.984615;PAIREDR=0.986395;PAO=0;PQA=0;PQR=0;PRO=0;QA=6354;QR=9532;RO=294;RPL=79;RPP=18.2551;RPPR=10.5735;RPR=116;RUN=1;SAF=112;SAP=12.3755;SAR=83;SF=27;SRF=157;SRP=5.96468;SRR=137;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-386.128,0,-663.871:491:294:195:6354:9532:294,195 . . . . . . . . . +chr1 228464276 . T C 7054.15 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=491;CIGAR=1X;DP=13348;DPB=496;DPRA=0;EPP=19.4666;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=40.1242;MQMR=0;NS=1;NUMALT=1;ODDS=685.276;PAIRED=0.99389;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=16704;QR=0;RO=0;RPL=310;RPP=76.606;RPPR=0;RPR=181;RUN=1;SAF=235;SAP=4.96064;SAR=256;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1419.69,-147.806,0:496:0:491:16704:0:0,491 1/1:-561.035,-57.7978,0:196:0:192:6510:0 1/1:-1135.64,-116.8,0:393:0:388:13342:0 0/1:-388.819,0,-472.759:377:190:174:5925:6855:190,174 0/1:-823.795,0,-480.818:586:215:345:11552:7606 0/1:-738.879,0,-672.616:632:287:325:10903:10014:287,325 1/1:-828.113,-78.7561,0:287:2:282:9861:77:2,282 . 0/1:-545.233,0,-380.598:414:164:229:7844:5824 0/1:-519.729,0,-470.84:447:202:224:7706:7017:202,224 . 0/1:-434.434,0,-603.156:487:261:204:6811:8791 0/1:-657.703,0,-797.976:626:321:282:9862:11434:321,282 1/1:-1111.05,-120.713,0:410:0:401:13095:0 . 0/1:-436.488,0,-638.934:476:258:196:6727:9047 0/1:-537.3,0,-639.639:506:262:229:8099:9254:262,229 0/1:-706.779,0,-398.007:494:175:292:10082:6273 . . 1/1:-1734.55,-181.823,0:616:1:605:20547:12:1,605 0/1:-348.517,0,-46.4641:169:33:132:4632:1098:33,132 0/1:-206.554,0,-142.728:157:63:90:3008:2239 1/1:-1662.71,-172.195,0:583:1:573:19566:12 1/1:-549.016,-55.0885,0:185:0:183:6490:0:0,183 1/1:-1664.31,-178.402,0:605:1:594:19726:26:1,594 0/1:-424.913,0,-643.012:517:275:212:6900:9293 0/1:-365.726,0,-631.536:471:267:180:5986:9013:267,180 0/1:-309.115,0,-389.346:304:158:136:4589:5517 0/1:-565.763,0,-764.329:634:324:276:9033:11095 0/1:-409.855,0,-369.476:342:155:172:6029:5482 1/1:-806.336,-87.2987,0:292:0:290:9485:0 1/1:-961.514,-98.7378,0:333:0:328:11325:0 0/1:-507.108,0,-450.446:427:189:220:7469:6627 0/1:-390.081,0,-511.25:405:207:171:5918:7270 . 0/1:-521.224,0,-542.966:481:228:223:7675:7975 +chr1 228464303 . G T 6888.09 . AB=0.621868;ABP=59.6417;AC=1;AF=0.5;AN=2;AO=273;CIGAR=1X;DP=439;DPB=439;DPRA=0;EPP=43.107;EPPR=11.8532;GTI=0;LEN=1;MEANALT=1;MQM=40.0879;MQMR=41.2349;NS=1;NUMALT=1;ODDS=833.093;PAIRED=0.978022;PAIREDR=0.981928;PAO=0;PQA=0;PQR=0;PRO=0;QA=10004;QR=6029;RO=166;RPL=182;RPP=68.8783;RPPR=86.7297;RPR=91;RUN=1;SAF=125;SAP=7.21802;SAR=148;SF=17;SRF=67;SRP=16.4054;SRR=99;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-713.036,0,-385.456:439:166:273:10004:6029 . . . . . . . . . . . . . . . . . . . +chr1 228464633 . C G 4260.09 . AB=0.480556;ABP=4.19255;AC=1;AF=0.5;AN=2;AO=173;CIGAR=1X;DP=360;DPB=360;DPRA=0;EPP=38.2685;EPPR=43.4322;GTI=0;LEN=1;MEANALT=1;MQM=41.9884;MQMR=41.6952;NS=1;NUMALT=1;ODDS=980.922;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6275;QR=6835;RO=187;RPL=87;RPP=3.02285;RPPR=8.13126;RPR=86;RUN=1;SAF=99;SAP=10.8552;SAR=74;SF=32;SRF=109;SRP=14.1696;SRR=78;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon23:c.C6490G:p.L2164V,OBSCN:NM_052843:exon23:c.C6490G:p.L2164V,OBSCN:NM_001271223:exon27:c.C7615G:p.L2539V;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201269256;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.663;SIFT_converted_rankscore=0.085;SIFT_pred=T;Polyphen2_HDIV_score=0.877;Polyphen2_HDIV_rankscore=0.715;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.315;Polyphen2_HVAR_rankscore=0.658;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.405;LRT_pred=N;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=3.52;FATHMM_converted_rankscore=0.049;FATHMM_pred=T;PROVEAN_score=-1.36;PROVEAN_converted_rankscore=0.362;PROVEAN_pred=N;VEST3_score=0.089;VEST3_rankscore=0.193;MetaSVM_score=-1.117;MetaSVM_rankscore=0.025;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=0.103;REVEL_rankscore=0.299;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.771;CADD_raw_rankscore=0.394;CADD_phred=21.2;DANN_score=0.966;DANN_rankscore=0.297;fathmm-MKL_coding_score=0.891;fathmm-MKL_coding_rankscore=0.491;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.103;Eigen-PC-raw=0.011;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=2.31;GERP++_RS_rankscore=0.277;phyloP100way_vertebrate=0.705;phyloP100way_vertebrate_rankscore=0.252;phyloP20way_mammalian=-0.015;phyloP20way_mammalian_rankscore=0.131;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.157;phastCons20way_mammalian_rankscore=0.207;SiPhy_29way_logOdds=7.342;SiPhy_29way_logOdds_rankscore=0.257;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0026;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0.0202;ExAC_nontcga_AMR=0.0055;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0086;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0005;AF=0.0050;AF_popmax=0.0148;AF_male=0.0055;AF_female=0.0045;AF_raw=0.0051;AF_afr=0.0148;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0007;AF_fin=0;AF_asj=0.0310;AF_oth=0.0037;non_topmed_AF_popmax=0.0149;non_neuro_AF_popmax=0.0160;non_cancer_AF_popmax=.;controls_AF_popmax=0.0183;Kaviar_AF=0.002238;Kaviar_AC=346;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\x3d95.325857;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-437.502,0,-483.648:360:187:173:6275:6835 . . . . +chr1 228464713 . G A 5560.29 . AB=0.495726;ABP=3.08454;AC=1;AF=0.5;AN=2;AO=232;CIGAR=1X;DP=468;DPB=468;DPRA=0;EPP=4.35811;EPPR=5.40641;GTI=0;LEN=1;MEANALT=2;MQM=41.9655;MQMR=41.9138;NS=1;NUMALT=1;ODDS=1280.3;PAIRED=1;PAIREDR=0.99569;PAO=0;PQA=0;PQR=0;PRO=0;QA=8096;QR=8453;RO=232;RPL=103;RPP=9.33752;RPPR=6.75422;RPR=129;RUN=1;SAF=105;SAP=7.54044;SAR=127;SF=32;SRF=108;SRP=5.40641;SRR=124;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon23:c.G6570A:p.S2190S,OBSCN:NM_052843:exon23:c.G6570A:p.S2190S,OBSCN:NM_001271223:exon27:c.G7695A:p.S2565S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374013818;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0006;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.573e-05;AF_popmax=0.0012;AF_male=0.0001;AF_female=7.191e-05;AF_raw=9.549e-05;AF_afr=0;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=6.494e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=7.358e-05;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=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.483349;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-564.522,0,-594.967:468:232:232:8096:8453 . . . . +chr1 228464842 . C G 2903.32 . AB=0;ABP=0;AC=42;AF=1;AN=62;AO=262;CIGAR=1X;DP=5020;DPB=262;DPRA=0;EPP=25.4212;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9695;MQMR=0;NS=1;NUMALT=1;ODDS=367.814;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9552;QR=0;RO=0;RPL=130;RPP=3.04345;RPPR=0;RPR=132;RUN=1;SAF=91;SAP=56.0539;SAR=171;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-829.638,-78.8699,0:262:0:262:9552:0:0,262 1/1:-86.8343,-8.12781,0:27:0:27:999:0 1/1:-420.845,-40.037,0:133:0:133:4897:0 0/1:-242.727,0,-335.711:227:128:98:3585:4672:128,98 0/1:-137.898,0,-202.924:132:76:56:2045:2795 0/1:-403.21,0,-373.92:305:147:158:5730:5374:147,158 1/1:-626.535,-60.8081,0:203:0:202:7231:0:0,202 . 0/1:-96.1036,0,-100.357:76:39:37:1369:1448 0/1:-271.403,0,-321.336:230:122:108:3926:4501:122,108 . 0/1:-185.081,0,-165.72:144:70:74:2623:2411 0/1:-477.164,0,-395.25:345:160:185:6717:5770:160,185 1/1:-306.425,-30.103,0:100:0:100:3536:0 . 0/1:-162.69,0,-178.052:136:70:66:2376:2535 0/1:-263.622,0,-291.869:216:112:103:3790:4121:112,103 0/1:-201.705,0,-171.267:146:68:78:2832:2478 . . 1/1:-931.045,-89.4059,0:298:0:297:10794:0:0,297 0/1:-229.498,0,-77.4233:129:39:88:3094:1337:39,88 0/1:-52.6192,0,-57.9284:49:25:23:769:830 1/1:-315.937,-30.404,0:101:0:101:3633:0 1/1:-338.32,-32.2102,0:107:0:107:3885:0:0,107 1/1:-1052.34,-101.748,0:338:0:338:12137:0:0,338 0/1:-135.461,0,-166.802:125:67:58:1986:2346 0/1:-470.954,0,-385.282:345:158:187:6624:5608:158,187 0/1:-78.7211,0,-110.553:76:43:33:1166:1529 0/1:-230.312,0,-212.802:183:85:97:3317:3083 0/1:-161.04,0,-139.741:118:55:63:2299:2015 1/1:-203.246,-19.2659,0:64:0:64:2334:0 1/1:-336.489,-31.9092,0:107:0:106:3879:0 0/1:-95.4374,0,-129.687:90:51:39:1416:1799 0/1:-141.602,0,-111.47:102:46:55:1982:1642 . 0/1:-142.611,0,-125.621:106:51:55:2012:1820 +chr1 228465031 . G A 2137.35 . AB=0.379061;ABP=38.2007;AC=1;AF=0.5;AN=2;AO=105;CIGAR=1X;DP=277;DPB=277;DPRA=0;EPP=10.476;EPPR=11.5447;GTI=0;LEN=1;MEANALT=1;MQM=41.4857;MQMR=41.7384;NS=1;NUMALT=1;ODDS=492.143;PAIRED=0.990476;PAIREDR=0.988372;PAO=0;PQA=0;PQR=0;PRO=0;QA=3673;QR=6042;RO=172;RPL=75;RPP=44.8887;RPPR=109.867;RPR=30;RUN=1;SAF=32;SAP=37.7745;SAR=73;SF=29;SRF=63;SRP=29.7245;SRR=109;TYPE=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=rs376578848;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0022;ExAC_nontcga_AFR=0.0006;ExAC_nontcga_AMR=0.0027;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0018;ExAC_nontcga_SAS=0.0014;AF=0.0012;AF_popmax=0.0047;AF_male=0.0013;AF_female=0.0011;AF_raw=0.0012;AF_afr=0.0005;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0018;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0163;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=Name\x3dOREG1945738|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-232.486,0,-442.145:277:172:105:3673:6042 . . . . . . . +chr1 228465346 . A G 850.92 . AB=0;ABP=0;AC=30;AF=1;AN=50;AO=62;CIGAR=1X;DP=1576;DPB=62;DPRA=0;EPP=8.05372;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=90.5554;PAIRED=0.967742;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2205;QR=0;RO=0;RPL=21;RPP=17.0198;RPPR=0;RPR=41;RUN=1;SAF=42;SAP=19.9618;SAR=20;SF=0,1,3,4,5,8,9,11,12,13,15,17,20,21,22,24,25,26,27,29,30,31,32,34,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-192.407,-18.6639,0:62:0:62:2205:0:0,62 0/1:-34.7758,0,-23.2191:23:9:14:489:345 . 0/1:-88.8422,0,-77.0303:64:30:34:1239:1108:30,34 0/1:-112.442,0,-109.478:86:42:44:1588:1560 0/1:-70.5917,0,-90.9461:64:35:29:1040:1267:35,29 . . 0/1:-55.067,0,-108.169:66:42:24:857:1483 0/1:-91.5195,0,-85.1059:68:33:35:1286:1213:33,35 . 0/1:-88.784,0,-138.598:89:51:37:1334:1904 0/1:-68.0747,0,-161.287:89:59:30:1085:2164:59,30 0/1:-68.4259,0,-79.0424:59:30:29:1022:1112 . 0/1:-73.257,0,-79.2875:65:32:33:1065:1143 . 0/1:-108.429,0,-87.6158:77:35:41:1508:1272 . . 0/1:-104.912,0,-114.479:89:46:43:1507:1652:46,43 0/1:-20.3061,0,-65.7747:34:24:10:347:886:24,10 0/1:-38.8557,0,-55.585:38:21:17:573:771 . 1/1:-123.892,-8.68775,0:41:1:40:1460:38:1,40 1/1:-270.327,-26.7917,0:89:0:89:3155:0:0,89 0/1:-77.4536,0,-102.04:72:39:33:1134:1423 0/1:-95.3472,0,-109.777:85:45:40:1408:1558:45,40 . 0/1:-108.579,0,-125.462:98:49:48:1587:1799 0/1:-29.7577,0,-56.9594:33:21:12:454:768 0/1:-49.4535,0,-30.6662:34:13:21:682:468 1/1:-177.983,-18.3628,0:61:0:61:2057:0 . 1/1:-108.025,-10.5361,0:35:0:35:1260:0 . 0/1:-101.081,0,-24.1912:55:15:40:1351:464 +chr1 228465370 . T G 1791.44 . AB=0;ABP=0;AC=41;AF=1;AN=60;AO=96;CIGAR=1X;DP=3031;DPB=96;DPRA=0;EPP=4.45795;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=137.689;PAIRED=0.979167;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3508;QR=0;RO=0;RPL=22;RPP=64.1734;RPPR=0;RPR=74;RUN=1;SAF=60;SAP=16.0391;SAR=36;SF=0,1,2,3,4,5,6,8,9,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,36;SRF=0;SRP=0;SRR=0;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-305.214,-28.8989,0:96:0:96:3508:0:0,96 1/1:-120.569,-11.4391,0:38:0:38:1385:0 1/1:-317.193,-31.6126,0:110:1:108:3675:13 0/1:-135.249,0,-110.186:98:44:54:1891:1604:44,54 0/1:-205.835,0,-148.284:137:58:79:2841:2184 0/1:-137.759,0,-146.497:112:58:54:1985:2073:58,54 1/1:-210.629,-20.47,0:68:0:68:2416:0:0,68 . 0/1:-89.6427,0,-154.569:95:58:37:1356:2114 0/1:-153.1,0,-129.055:111:51:60:2139:1870:51,60 . 0/1:-127.444,0,-165.799:116:64:52:1865:2303 0/1:-136.781,0,-207.464:142:81:60:2085:2875:81,60 1/1:-290.742,-28.5979,0:95:0:95:3368:0 . 0/1:-157.001,0,-105.213:109:44:65:2216:1596 0/1:-161.042,0,-143.301:119:58:61:2266:2096:58,61 0/1:-196.513,0,-135.236:134:56:78:2718:2029 . . 1/1:-415.377,-41.5421,0:138:0:138:4826:0:0,138 0/1:-91.3074,0,-22.2094:48:13:35:1225:416:13,35 0/1:-66.3703,0,-65.5706:55:28:27:960:939 1/1:-393.394,-37.9298,0:126:0:126:4526:0 1/1:-182.302,-17.1587,0:57:0:57:2092:0:0,57 1/1:-457.103,-45.1545,0:151:0:150:5301:0:0,150 0/1:-163.682,0,-155.964:134:63:71:2343:2253 0/1:-137.914,0,-158.006:124:64:59:2035:2238:64,59 0/1:-71.2649,0,-65.6045:58:28:30:1021:964 0/1:-156.443,0,-160.899:133:68:65:2267:2304 0/1:-87.517,0,-84.3669:68:33:35:1236:1204 1/1:-169.41,-17.1587,0:57:0:57:1934:0 1/1:-274.895,-27.9958,0:93:0:93:3172:0 0/1:-142.281,0,-139.643:114:55:59:2033:1998 . . 0/1:-162.551,0,-68.4319:95:31:64:2207:1112 +chr1 228465403 . G T 2057.93 . AB=0.550562;ABP=6.96287;AC=1;AF=0.5;AN=2;AO=98;CIGAR=1X;DP=178;DPB=178;DPRA=0;EPP=17.989;EPPR=8.46682;GTI=0;LEN=1;MEANALT=2;MQM=41.6735;MQMR=41.4103;NS=1;NUMALT=1;ODDS=350.172;PAIRED=0.989796;PAIREDR=0.974359;PAO=0;PQA=0;PQR=0;PRO=0;QA=3159;QR=2512;RO=78;RPL=19;RPP=82.7787;RPPR=52.119;RPR=79;RUN=1;SAF=55;SAP=6.20103;SAR=43;SF=17;SRF=50;SRP=16.4846;SRR=28;TYPE=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 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-223.076,0,-165.924:178:78:98:3159:2512 . . . . . . . . . . . . . . . . . . . +chr1 228465585 . G A 3602.09 . AB=0.677273;ABP=63.0614;AC=1;AF=0.5;AN=2;AO=149;CIGAR=1X;DP=220;DPB=220;DPRA=0;EPP=9.43728;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=41.9463;MQMR=42;NS=1;NUMALT=1;ODDS=304.596;PAIRED=0.993289;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5415;QR=2561;RO=70;RPL=138;RPP=238.069;RPPR=107.365;RPR=11;RUN=1;SAF=53;SAP=29.957;SAR=96;SF=16;SRF=29;SRP=7.47733;SRR=41;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369702630;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=3.906e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.808e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.38e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=0;AF_raw=9.549e-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=7.357e-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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-404.217,0,-157.294:220:70:149:5415:2561:70,149 . . . . . . . . . . . . . . . . . . . . +chr1 228466862 . C T 2199.76 . AB=0.363636;ABP=20.7769;AC=3;AF=0.5;AN=6;AO=40;CIGAR=1X;DP=498;DPB=110;DPRA=0;EPP=8.43898;EPPR=18.0245;GTI=0;LEN=1;MEANALT=1;MQM=41.1;MQMR=42;NS=1;NUMALT=1;ODDS=182.566;PAIRED=0.975;PAIREDR=0.971429;PAO=0;PQA=0;PQR=0;PRO=0;QA=1403;QR=2521;RO=70;RPL=14;RPP=10.8276;RPPR=18.0245;RPR=26;RUN=1;SAF=25;SAP=8.43898;SAR=15;SF=24,33,34;SRF=42;SRP=9.09042;SRR=28;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-87.7845,0,-186.249:110:70:40:1403:2521:70,40 . . . . . . . . 0/1:-332.543,0,-166.723:198:72:126:4524:2635 0/1:-274.135,0,-215.165:190:84:106:3829:3135 . . +chr1 228467095 . T C 1380.23 . AB=0.4875;ABP=3.22745;AC=1;AF=0.5;AN=2;AO=78;CIGAR=1X;DP=160;DPB=160;DPRA=0;EPP=5.79424;EPPR=10.954;GTI=0;LEN=1;MEANALT=2;MQM=41.4487;MQMR=41.4684;NS=1;NUMALT=1;ODDS=317.809;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2246;QR=2455;RO=79;RPL=50;RPP=16.4846;RPPR=9.19487;RPR=28;RUN=1;SAF=18;SAP=52.119;SAR=60;SF=31;SRF=18;SRP=53.8337;SRR=61;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-151.088,0,-167.533:160:79:78:2246:2455 . . . . . +chr1 228467711 . G A 542.98 . AB=0.214953;ABP=154.039;AC=1;AF=0.5;AN=2;AO=46;CIGAR=1X;DP=214;DPB=214;DPRA=0;EPP=12.2627;EPPR=8.18047;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9881;NS=1;NUMALT=1;ODDS=125.025;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1652;QR=6013;RO=168;RPL=33;RPP=21.8927;RPPR=98.6068;RPR=13;RUN=1;SAF=23;SAP=3.0103;SAR=23;SF=21;SRF=85;SRP=3.062;SRR=83;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-79.1499,0,-458.835:214:168:46:1652:6013:168,46 . . . . . . . . . . . . . . . +chr1 228468179 . A C 3554.56 . AB=0.516364;ABP=3.6499;AC=1;AF=0.5;AN=2;AO=142;CIGAR=1X;DP=275;DPB=275;DPRA=0;EPP=3.0103;EPPR=9.59052;GTI=0;LEN=1;MEANALT=2;MQM=41.8451;MQMR=41.4091;NS=1;NUMALT=1;ODDS=741.424;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5160;QR=4834;RO=132;RPL=81;RPP=9.12712;RPPR=8.34028;RPR=61;RUN=1;SAF=52;SAP=25.092;SAR=90;SF=9;SRF=49;SRP=22.0271;SRR=83;TYPE=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=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-365.206,0,-331.965:275:132:142:5160:4834:132,142 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228468244 . G A 1059.77 . AB=0.298913;ABP=67.6352;AC=1;AF=0.5;AN=2;AO=55;CIGAR=1X;DP=184;DPB=184;DPRA=0;EPP=3.99733;EPPR=5.04711;GTI=0;LEN=1;MEANALT=1;MQM=41.9636;MQMR=41.9535;NS=1;NUMALT=1;ODDS=244.02;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2018;QR=4574;RO=129;RPL=21;RPP=9.68264;RPPR=3.83512;RPR=34;RUN=1;SAF=23;SAP=6.20829;SAR=32;SF=21;SRF=63;SRP=3.1618;SRR=66;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-119.803,0,-342.677:184:129:55:2018:4574:129,55 . . . . . . . . . . . . . . . +chr1 228468458 . G A 3587.74 . AB=0.731343;ABP=34.1563;AC=15;AF=0.5;AN=24;AO=49;CIGAR=1X;DP=2303;DPB=67;DPRA=0;EPP=3.40914;EPPR=15.074;GTI=0;LEN=1;MEANALT=1;MQM=41.9592;MQMR=42;NS=1;NUMALT=1;ODDS=46.1107;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1749;QR=599;RO=18;RPL=44;RPP=70.4146;RPPR=26.6552;RPR=5;RUN=1;SAF=18;SAP=10.4997;SAR=31;SF=1,2,6,10,13,16,20,21,23,28,31,33;SRF=12;SRP=7.35324;SRR=6;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-132.039,0,-32.5396:67:18:49:1749:599 1/1:-875.804,-85.0858,0:297:3:291:10251:38 . . . 1/1:-710.771,-69.2369,0:230:0:230:8238:0:0,230 . . . 0/1:-289.171,0,-184.154:192:79:112:4023:2795:79,112 . . 0/1:-354.252,0,-170.201:219:79:140:4865:2704 . . 0/1:-265.265,0,-157.941:175:70:104:3671:2406:70,104 . . . 0/1:-481.572,0,-274.174:306:118:187:6649:4200:118,187 0/1:-56.1535,0,-182.764:103:72:30:995:2444:72,30 . 1/1:-816.427,-79.1709,0:263:0:263:9458:0 . . . . 0/1:-243.035,0,-95.4115:150:51:98:3332:1596 . . 0/1:-225.812,0,-104.817:134:47:87:3058:1663 . 0/1:-269.349,0,-151.281:167:65:101:3690:2306 . . . +chr1 228469801 . G C 7448.72 . AB=0.493443;ABP=3.23813;AC=4;AF=0.5;AN=8;AO=301;CIGAR=1X;DP=2390;DPB=610;DPRA=0;EPP=3.19065;EPPR=3.35464;GTI=0;LEN=1;MEANALT=1;MQM=41.7475;MQMR=41.9871;NS=1;NUMALT=1;ODDS=1737.4;PAIRED=0.983389;PAIREDR=0.996764;PAO=0;PQA=0;PQR=0;PRO=0;QA=11010;QR=11373;RO=309;RPL=187;RPP=41.4547;RPPR=19.8831;RPR=114;RUN=1;SAF=121;SAP=28.1229;SAR=180;SF=0,3,4,8;SRF=123;SRP=30.9021;SRR=186;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-768.478,0,-803.148:610:309:301:11010:11373:309,301 . . 0/1:-721.898,0,-688.824:541:267:274:10234:9832:267,274 0/1:-834.167,0,-888.491:675:345:330:11992:12709 . . . 0/1:-700.265,0,-758.592:564:293:271:10039:10708 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228469870 . C T 955.61 . AB=0.347518;ABP=31.4858;AC=1;AF=0.5;AN=2;AO=49;CIGAR=1X;DP=141;DPB=141;DPRA=0;EPP=3.05462;EPPR=13.5336;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.978;NS=1;NUMALT=1;ODDS=220.037;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1740;QR=3209;RO=91;RPL=36;RPP=26.4533;RPPR=86.0751;RPR=13;RUN=1;SAF=11;SAP=35.3165;SAR=38;SF=21;SRF=19;SRP=70.0396;SRR=72;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-110.058,0,-237.791:141:91:49:1740:3209:91,49 . . . . . . . . . . . . . . . +chr1 228469903 . AG TT 495.57 . AB=0.371429;ABP=13.0611;AC=1;AF=0.5;AN=2;AO=26;CIGAR=2X;DP=70;DPB=70;DPRA=0;EPP=15.0369;EPPR=12.6832;GTI=0;LEN=2;MEANALT=1;MQM=42;MQMR=41.9545;NS=1;NUMALT=1;ODDS=114.109;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=974;QR=1546;RO=44;RPL=22;RPP=30.0702;RPPR=53.5464;RPR=4;RUN=1;SAF=3;SAP=36.4176;SAR=23;SF=21;SRF=9;SRP=36.372;SRR=35;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=OBSCN:NM_001098623:exon31:c.8467_8468TT,OBSCN:NM_052843:exon31:c.8467_8468TT,OBSCN:NM_001271223:exon36:c.9754_9755TT;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs386640014;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0008667;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-63.6534,0,-113.775:70:44:26:974:1546:44,26 . . . . . . . . . . . . . . . +chr1 228470995 . G T 4862.88 . AB=0.457143;ABP=5.24381;AC=15;AF=0.5;AN=24;AO=64;CIGAR=1X;DP=3441;DPB=140;DPRA=0;EPP=9.66043;EPPR=14.4391;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=328.998;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2328;QR=2856;RO=76;RPL=51;RPP=52.0041;RPPR=80.269;RPR=13;RUN=1;SAF=14;SAP=46.9826;SAR=50;SF=1,2,6,10,13,16,20,21,23,28,31,33;SRF=18;SRP=48.7255;SRR=58;TYPE=snp;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\x3dOREG1945741|N/A|ZNF263|PAZAR,OREG1507126|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-159.672,0,-204.916:140:76:64:2328:2856 1/1:-1198.02,-112.869,0:390:2:388:13914:49 . . . 1/1:-864.555,-81.2781,0:270:0:270:9985:0:0,270 . . . 0/1:-424.338,0,-404.085:316:155:161:6027:5787:155,161 . . 0/1:-455.502,0,-488.92:371:189:181:6569:6929 . . 0/1:-433.28,0,-400.801:317:154:163:6119:5750:154,163 . . . 0/1:-535.27,0,-486.337:398:192:206:7602:7025:192,206 0/1:-72.5171,0,-254.919:132:96:36:1308:3395:96,36 . 1/1:-1178.18,-105.677,0:368:2:365:13680:54 . . . . 0/1:-325.816,0,-310.768:254:123:131:4640:4478 . . 0/1:-280.057,0,-257.267:210:100:110:3960:3700 . 0/1:-313.909,0,-401.973:275:150:125:4580:5610 . . . +chr1 228471379 . G C 10960.72 . AB=0;ABP=0;AC=30;AF=1;AN=52;AO=662;CIGAR=1X;DP=19320;DPB=663;DPRA=0;EPP=7.74687;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9048;MQMR=0;NS=1;NUMALT=1;ODDS=922.332;PAIRED=0.990937;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=24134;QR=0;RO=0;RPL=388;RPP=45.6394;RPPR=0;RPR=274;RUN=1;SAF=286;SAP=29.5797;SAR=376;SF=0,1,3,4,5,8,9,11,12,13,15,17,20,21,22,24,25,26,27,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-2092.91,-199.282,0:663:0:662:24134:0:0,662 0/1:-352.471,0,-344.811:273:134:139:5006:4924 . 0/1:-1009.46,0,-1025.56:810:404:399:14484:14641:404,399 0/1:-1377.97,0,-1290.07:1051:501:547:19581:18589 0/1:-1154.41,0,-1236.74:930:478:451:16561:17527:478,451 . . 0/1:-839.77,0,-804.807:643:313:327:11899:11506 0/1:-979.686,0,-743.682:682:304:378:13724:10933:304,378 . 0/1:-1016.85,0,-998.321:830:411:419:14570:14372 0/1:-1461.28,0,-1284.04:1078:510:565:20587:18567:510,565 0/1:-1015.85,0,-905.981:760:360:398:14342:13089 . 0/1:-1062.31,0,-1024.05:836:409:426:15186:14738 . 0/1:-1115.84,0,-1356.87:962:515:444:16193:18992 . . 0/1:-1351.14,0,-1155.24:981:455:525:18994:16758:455,525 0/1:-111.855,0,-678.271:322:251:70:2389:8935:251,70 0/1:-315.536,0,-387.891:284:153:131:4603:5440 . 1/1:-906.081,-85.198,0:288:1:287:10477:15:1,287 1/1:-3250.11,-308.969,0:1047:3:1044:37594:68:3,1044 0/1:-1111.83,0,-1171.54:949:483:464:16116:16767 0/1:-925.199,0,-1131.21:829:447:380:13556:15904:447,380 . 0/1:-1266.53,0,-1362.59:1091:561:526:18397:19470 0/1:-832.161,0,-880.388:666:337:329:11923:12465 0/1:-594.388,0,-588.197:470:232:238:8463:8396 1/1:-2121.53,-196.436,0:686:3:681:24552:107 0/1:-946.887,0,-922.93:730:359:369:13431:13169 0/1:-637.911,0,-920.604:602:343:258:9436:12707 . 0/1:-1010.07,0,-1145.91:857:454:401:14627:16180 +chr1 228474032 . G A 1445.71 . AB=0.483871;ABP=3.36054;AC=1;AF=0.5;AN=2;AO=75;CIGAR=1X;DP=155;DPB=155;DPRA=0;EPP=27.3597;EPPR=9.09042;GTI=0;LEN=1;MEANALT=3;MQM=41.1333;MQMR=40.4286;NS=1;NUMALT=1;ODDS=330.601;PAIRED=0.973333;PAIREDR=0.857143;PAO=0;PQA=0;PQR=0;PRO=0;QA=2459;QR=2374;RO=70;RPL=61;RPP=66.9674;RPPR=23.9805;RPR=14;RUN=1;SAF=11;SAP=84.3392;SAR=64;SF=32;SRF=10;SRP=80.5629;SRR=60;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon34:c.G9258A:p.S3086S,OBSCN:NM_052843:exon34:c.G9258A:p.S3086S,OBSCN:NM_001271223:exon39:c.G10545A:p.S3515S;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs116080935;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0077;ExAC_nontcga_AFR=0.0523;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0093;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=0.0121;AF_popmax=0.0399;AF_male=0.0130;AF_female=0.0111;AF_raw=0.0122;AF_afr=0.0399;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0009;AF_fin=0.0003;AF_asj=0.0310;AF_oth=0.0046;non_topmed_AF_popmax=0.0398;non_neuro_AF_popmax=0.0432;non_cancer_AF_popmax=.;controls_AF_popmax=0.0452;Kaviar_AF=0.0034734;Kaviar_AC=537;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-169.005,0,-161.032:155:70:75:2459:2374 . . . . +chr1 228475848 . G A 10767.42 . AB=0.491639;ABP=3.19186;AC=15;AF=0.5;AN=24;AO=147;CIGAR=1X;DP=7557;DPB=299;DPRA=0;EPP=3.14325;EPPR=6.24594;GTI=0;LEN=1;MEANALT=2;MQM=38.9864;MQMR=40.9338;NS=1;NUMALT=1;ODDS=807.907;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5480;QR=5484;RO=151;RPL=50;RPP=35.6415;RPPR=34.7771;RPR=97;RUN=1;SAF=77;SAP=3.73412;SAR=70;SF=1,2,6,10,13,16,20,21,23,28,31,33;SRF=68;SRP=6.24594;SRR=83;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-361.147,0,-381.525:299:151:147:5480:5484 1/1:-2323.07,-229.314,0:783:4:778:28202:71 . . . 1/1:-1791.61,-172.726,0:594:4:590:22001:101:4,590 . . . 0/1:-1022.6,0,-917.689:795:381:412:15226:13602:381,412 . . 0/1:-972.302,0,-724.403:702:313:388:14226:11064 . . 0/1:-966.413,0,-1006.42:794:402:389:14482:14702:402,389 . . . 0/1:-948.417,0,-1048.46:826:427:397:14624:15281:427,397 0/1:-140.038,0,-511.81:265:195:70:2525:6854:195,70 . 1/1:-2613.64,-257.08,0:855:0:854:31744:0 . . . . 0/1:-689.286,0,-591.327:532:247:284:10218:8780 . . 0/1:-579.815,0,-601.415:490:242:247:8899:8692 . 0/1:-708.436,0,-778.025:622:321:298:10912:11447 . . . +chr1 228476366 . GA TT 853.14 . AB=0.217241;ABP=204.403;AC=1;AF=0.5;AN=2;AO=63;CIGAR=2X;DP=290;DPB=291;DPRA=0;EPP=3.872;EPPR=5.79944;GTI=0;LEN=2;MEANALT=2;MQM=42;MQMR=41.6889;NS=1;NUMALT=1;ODDS=196.442;PAIRED=0;PAIREDR=0;PAO=2;PQA=70;PQR=0;PRO=0;QA=2239;QR=8031;RO=225;RPL=33;RPP=3.32051;RPPR=12.2849;RPR=30;RUN=1;SAF=23;SAP=12.9715;SAR=40;SF=21;SRF=121;SRP=5.79944;SRR=104;TYPE=mnp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=OBSCN:NM_001098623:exon38:c.10116_10117TT,OBSCN:NM_052843:exon38:c.10116_10117TT,OBSCN:NM_001271223:exon43:c.11403_11404TT;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs386640016;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.001533;Kaviar_AC=237;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-113.657,0,-607.749:290:225:63:2239:8031:225,63 . . . . . . . . . . . . . . . +chr1 228476414 . G A 580.32 . AB=0.195804;ABP=232.883;AC=1;AF=0.5;AN=2;AO=56;CIGAR=1X;DP=286;DPB=286;DPRA=0;EPP=5.49198;EPPR=3.04806;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.8174;NS=1;NUMALT=1;ODDS=133.623;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2017;QR=8172;RO=230;RPL=33;RPP=6.88793;RPPR=3.16136;RPR=23;RUN=1;SAF=27;SAP=3.16541;SAR=29;SF=21;SRF=115;SRP=3.0103;SRR=115;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-89.4929,0,-615.433:286:230:56:2017:8172:230,56 . . . . . . . . . . . . . . . +chr1 228480282 . A G 5716.06 . AB=0;ABP=0;AC=44;AF=1;AN=64;AO=503;CIGAR=1X;DP=16748;DPB=503;DPRA=0;EPP=3.04915;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=22.8807;MQMR=0;NS=1;NUMALT=1;ODDS=701.911;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=18078;QR=0;RO=0;RPL=279;RPP=16.0694;RPPR=0;RPR=224;RUN=1;SAF=292;SAP=31.3344;SAR=211;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-978.025,-151.418,0:503:0:503:18078:0:0,503 1/1:-452.539,-60.507,0:201:0:201:7360:0 1/1:-1101.58,-168.497,0:587:4:582:20868:119 0/1:-377.344,0,-534.244:535:255:278:10102:9348:255,278 0/1:-353.489,0,-812.02:641:354:285:10400:13294 0/1:-420.629,0,-803.734:708:367:340:12371:13689:367,340 1/1:-1050.68,-160.449,0:533:0:533:19400:0:0,533 . 0/1:-325.917,0,-460.369:467:219:247:8847:8044 0/1:-301.618,0,-581.23:495:263:232:8318:9824:263,232 0/1:-425.311,0,-452.243:515:221:292:10619:8276:221,292 0/1:-397.353,0,-642.339:617:313:303:10756:11435 0/1:-517.543,0,-897.94:803:415:388:14145:15270:415,388 1/1:-1229.71,-192.279,0:640:2:638:22779:71 . 0/1:-395.995,0,-637.361:603:297:305:10973:11126 0/1:-370.107,0,-635.617:597:295:301:10947:10968:295,301 0/1:-417.725,0,-714.692:660:332:328:12096:12316 . . 1/1:-1258.81,-196.548,0:664:1:663:24036:34:1,663 0/1:-83.457,0,-120.989:102:52:50:1671:1911:52,50 0/1:-97.1498,0,-233.222:189:112:77:2664:4100 1/1:-1214.29,-194.272,0:646:1:645:23508:16 1/1:-492.848,-72.5482,0:242:0:241:8757:0:0,241 1/1:-1344.2,-209.216,0:695:0:695:24788:0:0,695 0/1:-382.334,0,-542.354:581:278:302:10365:9877 0/1:-455.646,0,-684.5:694:331:363:12760:12165:331,363 0/1:-311.715,0,-433.628:382:185:195:6870:6844 0/1:-435.561,0,-712.577:687:349:337:12077:12674 0/1:-261.104,0,-450.781:411:209:202:7248:7726 1/1:-630.552,-94.9255,0:316:1:315:11269:37 1/1:-1011.13,-158.643,0:528:0:527:18877:0 1/1:-837.876,-132.007,0:449:3:445:16071:81 0/1:-308.299,0,-539.33:486:254:232:8460:9512 . 0/1:-353.908,0,-622.993:571:293:277:9953:10875 +chr1 228480441 . G A 5671.98 . AB=0.466472;ABP=9.70831;AC=1;AF=0.5;AN=2;AO=320;CIGAR=1X;DP=686;DPB=686;DPRA=0;EPP=13.8677;EPPR=30.4444;GTI=0;LEN=1;MEANALT=1;MQM=31.2188;MQMR=35.041;NS=1;NUMALT=1;ODDS=1306.02;PAIRED=0.99375;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=11669;QR=13170;RO=366;RPL=238;RPP=168.151;RPPR=158.716;RPR=82;RUN=1;SAF=132;SAP=24.2907;SAR=188;SF=32;SRF=159;SRP=16.6799;SRR=207;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon40:c.G10821A:p.S3607S,OBSCN:NM_052843:exon40:c.G10821A:p.S3607S,OBSCN:NM_001271223:exon45:c.G12108A:p.S4036S;1000g2015aug_all=0.00958466;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113015177;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0049;ExAC_nontcga_AFR=0.0364;ExAC_nontcga_AMR=0.0029;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0030;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0007;AF=0.0124;AF_popmax=0.0407;AF_male=0.0133;AF_female=0.0112;AF_raw=0.0124;AF_afr=0.0407;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0009;AF_fin=0;AF_asj=0.0310;AF_oth=0.0055;non_topmed_AF_popmax=0.0406;non_neuro_AF_popmax=0.0438;non_cancer_AF_popmax=.;controls_AF_popmax=0.0456;Kaviar_AF=0.004877;Kaviar_AC=754;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-595.834,0,-816.1:686:366:320:11669:13170 . . . . +chr1 228481854 . C T 2163.52 . AB=0.282511;ABP=94.6309;AC=2;AF=0.5;AN=4;AO=63;CIGAR=1X;DP=450;DPB=223;DPRA=0;EPP=4.69922;EPPR=8.43898;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9875;NS=1;NUMALT=1;ODDS=260.754;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2272;QR=5798;RO=160;RPL=26;RPP=7.18091;RPPR=3.49888;RPR=37;RUN=1;SAF=38;SAP=8.83536;SAR=25;SF=21,22;SRF=93;SRP=12.1848;SRR=67;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11133T:p.A3711A,OBSCN:NM_052843:exon42:c.C11133T:p.A3711A,OBSCN:NM_001271223:exon47:c.C12420T:p.A4140A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199641194;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;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=0.0004;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=0.0006;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=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-130.101,0,-436.411:223:160:63:2272:5798:160,63 0/1:-330.551,0,-230.626:227:98:129:4705:3485 . . . . . . . . . . . . . . +chr1 228481917 . G A 9116.69 . AB=0.484277;ABP=5.05886;AC=1;AF=0.5;AN=2;AO=462;CIGAR=1X;DP=954;DPB=954;DPRA=0;EPP=7.24044;EPPR=37.3284;GTI=0;LEN=1;MEANALT=2;MQM=33.526;MQMR=35.0184;NS=1;NUMALT=1;ODDS=2099.2;PAIRED=0.997835;PAIREDR=0.997959;PAO=0;PQA=0;PQR=0;PRO=0;QA=16746;QR=17872;RO=490;RPL=172;RPP=68.4553;RPPR=87.4052;RPR=290;RUN=1;SAF=230;SAP=3.0291;SAR=232;SF=4;SRF=255;SRP=4.78293;SRR=235;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . 0/1:-926.755,0,-1071.11:954:490:462:16746:17872 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228481940 . C T 5365.87 . AB=0.476319;ABP=6.60983;AC=1;AF=0.5;AN=2;AO=352;CIGAR=1X;DP=739;DPB=739;DPRA=0;EPP=3.40511;EPPR=3.46479;GTI=0;LEN=1;MEANALT=1;MQM=27.4943;MQMR=34.8527;NS=1;NUMALT=1;ODDS=1235.54;PAIRED=0.994318;PAIREDR=0.992248;PAO=0;PQA=0;PQR=0;PRO=0;QA=12713;QR=14186;RO=387;RPL=83;RPP=216.431;RPPR=190.918;RPR=269;RUN=1;SAF=179;SAP=3.23238;SAR=173;SF=8;SRF=202;SRP=4.63189;SRR=185;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon42:c.C11219T:p.A3740V,OBSCN:NM_052843:exon42:c.C11219T:p.A3740V,OBSCN:NM_001271223:exon47:c.C12506T:p.A4169V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs374797523;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.225;SIFT_converted_rankscore=0.200;SIFT_pred=T;Polyphen2_HDIV_score=0.1;Polyphen2_HDIV_rankscore=0.358;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.041;Polyphen2_HVAR_rankscore=0.234;Polyphen2_HVAR_pred=B;LRT_score=0.365;LRT_converted_rankscore=0.136;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=1.575;MutationAssessor_score_rankscore=0.398;MutationAssessor_pred=L;FATHMM_score=3.54;FATHMM_converted_rankscore=0.048;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_converted_rankscore=0.490;PROVEAN_pred=N;VEST3_score=0.029;VEST3_rankscore=0.322;MetaSVM_score=-0.966;MetaSVM_rankscore=0.381;MetaSVM_pred=T;MetaLR_score=0.011;MetaLR_rankscore=0.040;MetaLR_pred=T;M-CAP_score=0.002;M-CAP_rankscore=0.040;M-CAP_pred=T;REVEL_score=0.010;REVEL_rankscore=0.011;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.911;CADD_raw_rankscore=0.181;CADD_phred=10.14;DANN_score=0.628;DANN_rankscore=0.069;fathmm-MKL_coding_score=0.017;fathmm-MKL_coding_rankscore=0.053;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.273;Eigen-PC-raw=-1.366;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.055;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=-1.9;GERP++_RS_rankscore=0.072;phyloP100way_vertebrate=-1.469;phyloP100way_vertebrate_rankscore=0.024;phyloP20way_mammalian=-2.713;phyloP20way_mammalian_rankscore=0.002;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.003;phastCons20way_mammalian_rankscore=0.074;SiPhy_29way_logOdds=4.700;SiPhy_29way_logOdds_rankscore=0.121;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=0.0001;ExAC_nontcga_ALL=2.841e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=1.84e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.187e-05;AF_popmax=6.487e-05;AF_male=5.726e-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=7.345e-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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-567.051,0,-875.058:739:387:352:12713:14186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228482010 . C T 10006.27 . AB=0.525672;ABP=5.35167;AC=24;AF=0.5;AN=36;AO=215;CIGAR=1X;DP=16975;DPB=409;DPRA=0;EPP=9.32272;EPPR=12.4725;GTI=0;LEN=1;MEANALT=2;MQM=26.7023;MQMR=31.8446;NS=1;NUMALT=1;ODDS=802.704;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7860;QR=7036;RO=193;RPL=156;RPP=98.04;RPPR=88.1703;RPR=59;RUN=1;SAF=101;SAP=4.71718;SAR=114;SF=1,2,5,6,10,12,13,16,17,20,23,25,27,28,29,30,31,33;SRF=86;SRP=7.97206;SRR=107;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-366.67,0,-382.103:409:193:215:7860:7036 1/1:-1951.63,-302.29,0:1020:3:1016:35850:66 . . 0/1:-705.145,0,-1457.61:1237:673:562:20513:24536:673,562 1/1:-1707.05,-257.84,0:860:1:858:31127:35:1,858 . . . 0/1:-574.878,0,-853.758:889:441:444:16306:15852:441,444 . 0/1:-826.724,0,-1240.95:1236:601:628:22878:21551:601,628 1/1:-1599.88,-240.905,0:807:5:801:28424:156 . . 0/1:-772.066,0,-957.268:997:454:542:19845:16503:454,542 0/1:-716.869,0,-1199.99:1120:564:554:19937:20254 . . 0/1:-716.874,0,-946.575:1107:569:537:19433:20498:569,537 . . 1/1:-2140.06,-334.143,0:1112:0:1110:40576:0 . 1/1:-2290.18,-341.007,0:1171:4:1160:41384:121:4,1160 . 0/1:-753.511,0,-1008:1030:501:528:18709:17906:501,528 0/1:-428.857,0,-670.798:579:299:275:9576:10435 0/1:-719.397,0,-1208.67:1156:607:542:18898:21255 0/1:-493.027,0,-949.705:828:455:372:13442:16176 1/1:-1146.64,-171.052,0:579:2:577:20446:52 . 0/1:-580.278,0,-660.938:838:406:432:15627:14806 . . . +chr1 228482028 . G C 7032.22 . AB=0;ABP=0;AC=20;AF=1;AN=34;AO=757;CIGAR=1X;DP=11750;DPB=758;DPRA=0;EPP=27.8202;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=26.148;MQMR=42;NS=1;NUMALT=1;ODDS=1042.45;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=27944;QR=38;RO=1;RPL=458;RPP=75.5294;RPPR=5.18177;RPR=299;RUN=1;SAF=356;SAP=8.81906;SAR=401;SF=0,1,3,4,8,9,11,15,20,21,22,24,26,32,33,34,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1657.41,-224.526,0:758:1:757:27944:38:1,757 0/1:-347.547,0,-324.761:357:182:174:6467:6768 . 0/1:-581.769,0,-834.015:754:388:364:13480:14446:388,364 0/1:-915.711,0,-943.404:1029:478:551:20502:18063 . . . 0/1:-446.257,0,-692.571:619:331:287:10672:12264 0/1:-606.222,0,-794.238:743:371:371:13522:13945:371,371 . 0/1:-527.27,0,-1014.03:841:471:369:12848:17459 . . . 0/1:-559.132,0,-907.597:796:424:371:13235:15678 . . . . 0/1:-850.725,0,-736.493:1023:511:512:19037:19166:511,512 0/1:-118.407,0,-352.168:216:142:74:2674:5113:142,74 0/1:-273.936,0,-450.625:387:214:172:6218:7867 . 1/1:-1199.78,-158.944,0:529:0:528:19379:0:0,528 . 0/1:-623.619,0,-798.596:808:402:402:13797:14629 . . . . . 1/1:-1694.04,-233.366,0:778:1:775:27948:36 0/1:-541.575,0,-478.77:698:348:349:12606:13056 0/1:-506.815,0,-659.21:627:305:321:11572:11552 . 0/1:-750.363,0,-685.64:787:346:441:16163:12915 +chr1 228482569 . G A 2967.78 . AB=0.471204;ABP=5.76159;AC=4;AF=0.5;AN=8;AO=180;CIGAR=1X;DP=2098;DPB=382;DPRA=0;EPP=6.91895;EPPR=32.0779;GTI=0;LEN=1;MEANALT=1;MQM=22.7167;MQMR=31.401;NS=1;NUMALT=1;ODDS=505.152;PAIRED=0.994444;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6477;QR=7208;RO=202;RPL=78;RPP=9.95901;RPPR=65.1015;RPR=102;RUN=1;SAF=97;SAP=5.37479;SAR=83;SF=18,19,34,36;SRF=96;SRP=4.08529;SRR=106;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-228.045,0,-406.806:382:202:180:6477:7208 0/1:-311.148,0,-785.893:632:360:270:9775:12997 . . . . . . . . . . . . . . 0/1:-359.875,0,-515.929:536:255:278:10130:9152 . 0/1:-339.515,0,-527.52:548:273:273:9935:9601 +chr1 228486404 . C T 3914.99 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=245;CIGAR=1X;DP=4336;DPB=246;DPRA=0;EPP=31.8067;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9755;MQMR=0;NS=1;NUMALT=1;ODDS=344.247;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8990;QR=0;RO=0;RPL=164;RPP=64.0686;RPPR=0;RPR=81;RUN=1;SAF=70;SAP=100.727;SAR=175;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-778.599,-73.7524,0:246:0:245:8990:0:0,245 0/1:-179.553,0,-148.875:136:64:71:2541:2167 . 0/1:-413.386,0,-364.56:308:147:161:5841:5244:147,161 0/1:-483.499,0,-468.072:380:188:190:6948:6711 . . . 0/1:-324.178,0,-282.503:245:115:127:4596:4098 0/1:-426.887,0,-398.353:332:166:166:6085:5734:166,166 . 0/1:-521.269,0,-418.946:384:177:206:7351:6125 . . . 0/1:-426.818,0,-338.82:316:146:167:6028:4998 . . . . 0/1:-519.645,0,-480.938:395:194:200:7375:6904:194,200 0/1:-49.3324,0,-293.046:149:118:31:1081:3864:118,31 0/1:-183.332,0,-198.521:160:85:75:2668:2836 . 1/1:-438.198,-39.4696,0:139:1:138:5099:36:1,138 . . . . . . . 1/1:-764.23,-73.3529,0:249:1:247:8835:15 0/1:-266.994,0,-360.347:253:141:112:3957:5001 0/1:-331.024,0,-342.358:277:142:133:4774:4890 . 0/1:-466.878,0,-425.571:367:180:186:6665:6173 +chr1 228491633 . G A 2834.93 . AB=0.598425;ABP=13.6967;AC=4;AF=0.5;AN=8;AO=76;CIGAR=1X;DP=916;DPB=127;DPRA=0;EPP=19.4678;EPPR=6.45911;GTI=0;LEN=1;MEANALT=1;MQM=40.5658;MQMR=41.1373;NS=1;NUMALT=1;ODDS=269.517;PAIRED=1;PAIREDR=0.980392;PAO=0;PQA=0;PQR=0;PRO=0;QA=2781;QR=1923;RO=51;RPL=58;RPP=48.7255;RPPR=18.3809;RPR=18;RUN=1;SAF=32;SAP=7.12467;SAR=44;SF=24,32,33,34;SRF=18;SRP=12.5903;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-197.383,0,-126.011:127:51:76:2781:1923:51,76 . . . . . . . 0/1:-408.939,0,-364.849:302:143:158:5937:5387 0/1:-260.469,0,-325.939:232:126:106:3883:4635 0/1:-330.743,0,-316.961:255:124:130:4880:4648 . . +chr1 228492044 . G A 7568.52 . AB=0.479042;ABP=3.64744;AC=26;AF=0.5;AN=40;AO=80;CIGAR=1X;DP=9163;DPB=167;DPRA=0;EPP=5.72464;EPPR=13.1102;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=40.5698;NS=1;NUMALT=1;ODDS=466.13;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3032;QR=3142;RO=86;RPL=45;RPP=5.72464;RPPR=9.47422;RPR=35;RUN=1;SAF=54;SAP=24.2907;SAR=26;SF=1,2,5,6,10,12,13,16,17,20,21,23,25,26,27,28,29,30,31,33;SRF=50;SRP=7.95924;SRR=36;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-211.529,0,-218.136:167:86:80:3032:3142 1/1:-1383.31,-141.026,0:478:2:475:17147:29 . . 0/1:-570.607,0,-649.424:505:270:235:8836:9772:270,235 1/1:-1162.18,-115.294,0:383:0:383:14128:0:0,383 . . . 0/1:-533.866,0,-602.786:480:253:227:8360:9103:253,227 . 0/1:-769.928,0,-865.164:676:352:323:12098:12871:352,323 1/1:-1338.46,-137.025,0:461:1:459:16666:16 . . 0/1:-677.132,0,-661.609:544:264:280:10522:9798:264,280 0/1:-659.868,0,-830.523:616:333:282:10617:12332 . . 0/1:-687.252,0,-655.204:553:270:281:10575:9964:270,281 0/1:-103.124,0,-370.053:192:141:51:1872:4998:141,51 . 1/1:-1524.27,-152.02,0:505:0:505:18865:0 . 1/1:-1969.01,-198.68,0:660:0:660:24395:0:0,660 0/1:-580.471,0,-585.498:528:263:262:9080:9186 0/1:-670.621,0,-588.838:537:255:280:10371:9062:255,280 0/1:-289.307,0,-414.454:291:168:123:4397:5860 0/1:-713.723,0,-720.146:620:308:311:11110:11125 0/1:-374.111,0,-430.255:336:176:159:5881:6500 1/1:-794.231,-81.5791,0:272:0:271:9993:0 . 0/1:-379.444,0,-503.324:359:196:163:6035:7243 . . . +chr1 228492220 . C T 47.45 . AB=0.154321;ABP=171.152;AC=1;AF=0.5;AN=2;AO=25;CIGAR=1X;DP=162;DPB=162;DPRA=0;EPP=5.18177;EPPR=11.395;GTI=0;LEN=1;MEANALT=1;MQM=41.2;MQMR=37.1314;NS=1;NUMALT=1;ODDS=10.9257;PAIRED=0;PAIREDR=0.00729927;PAO=0;PQA=0;PQR=0;PRO=0;QA=918;QR=4646;RO=137;RPL=5;RPP=22.5536;RPPR=18.2423;RPR=20;RUN=1;SAF=11;SAP=3.79203;SAR=14;SF=21;SRF=63;SRP=4.92817;SRR=74;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001271223:exon53:c.C14219T:p.S4740L;1000g2015aug_all=0.00539137;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41270183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;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=3.54;FATHMM_converted_rankscore=0.048;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.154;VEST3_rankscore=0.184;MetaSVM_score=-0.919;MetaSVM_rankscore=0.457;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=0.012;REVEL_rankscore=0.015;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.422;CADD_raw_rankscore=0.352;CADD_phred=18.97;DANN_score=0.976;DANN_rankscore=0.346;fathmm-MKL_coding_score=0.044;fathmm-MKL_coding_rankscore=0.099;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.711;Eigen-PC-raw=-0.900;GenoCanyon_score=0.011;GenoCanyon_score_rankscore=0.121;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=-3.29;GERP++_RS_rankscore=0.047;phyloP100way_vertebrate=-1.258;phyloP100way_vertebrate_rankscore=0.030;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.016;phastCons20way_mammalian_rankscore=0.126;SiPhy_29way_logOdds=8.864;SiPhy_29way_logOdds_rankscore=0.342;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=0.0158;ExAC_nontcga_ALL=0.0121;ExAC_nontcga_AFR=0.0026;ExAC_nontcga_AMR=0.0025;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0221;ExAC_nontcga_NFE=0.0178;ExAC_nontcga_OTH=0.0116;ExAC_nontcga_SAS=0.0064;AF=0.0122;AF_popmax=0.0176;AF_male=0.0118;AF_female=0.0128;AF_raw=0.0122;AF_afr=0.0029;AF_sas=.;AF_amr=0.0083;AF_eas=0;AF_nfe=0.0176;AF_fin=0.0181;AF_asj=0.0138;AF_oth=0.0120;non_topmed_AF_popmax=0.0188;non_neuro_AF_popmax=0.0179;non_cancer_AF_popmax=.;controls_AF_popmax=0.0203;Kaviar_AF=0.0123349;Kaviar_AC=1907;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-31.0012,0,-334.84:162:137:25:918:4646:137,25 . . . . . . . . . . . . . . . +chr1 228494144 . T G 4521.75 . AB=0.497253;ABP=3.03416;AC=1;AF=0.5;AN=2;AO=181;CIGAR=1X;DP=364;DPB=364;DPRA=0;EPP=6.47746;EPPR=3.30695;GTI=0;LEN=1;MEANALT=1;MQM=41.7901;MQMR=41.5847;NS=1;NUMALT=1;ODDS=1014.86;PAIRED=0.983425;PAIREDR=0.994536;PAO=0;PQA=0;PQR=0;PRO=0;QA=6637;QR=6456;RO=183;RPL=63;RPP=39.3015;RPPR=3.11709;RPR=118;RUN=1;SAF=105;SAP=13.0998;SAR=76;SF=19;SRF=104;SRP=10.4265;SRR=79;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon44:c.T11731G:p.C3911G,OBSCN:NM_052843:exon44:c.T11731G:p.C3911G,OBSCN:NM_001271223:exon55:c.T14602G:p.C4868G;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201781739;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=0.463;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=4.175;MutationAssessor_score_rankscore=0.978;MutationAssessor_pred=H;FATHMM_score=2.23;FATHMM_converted_rankscore=0.181;FATHMM_pred=T;PROVEAN_score=-8.43;PROVEAN_converted_rankscore=0.974;PROVEAN_pred=D;VEST3_score=0.584;VEST3_rankscore=0.975;MetaSVM_score=-0.500;MetaSVM_rankscore=0.687;MetaSVM_pred=T;MetaLR_score=0.196;MetaLR_rankscore=0.551;MetaLR_pred=T;M-CAP_score=0.058;M-CAP_rankscore=0.671;M-CAP_pred=D;REVEL_score=0.477;REVEL_rankscore=0.772;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.953;CADD_raw_rankscore=0.532;CADD_phred=23.6;DANN_score=0.828;DANN_rankscore=0.139;fathmm-MKL_coding_score=0.957;fathmm-MKL_coding_rankscore=0.657;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.505;Eigen-PC-raw=0.294;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.517;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=4.76;GERP++_RS_rankscore=0.600;phyloP100way_vertebrate=4.695;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=0.014;phastCons20way_mammalian_rankscore=0.122;SiPhy_29way_logOdds=14.430;SiPhy_29way_logOdds_rankscore=0.667;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=0.0004;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=9.701e-05;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=0.0008;AF_male=0.0007;AF_female=0.0003;AF_raw=0.0005;AF_afr=0.0002;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0.0006;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0009;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-464.258,0,-448.6:364:183:181:6637:6456 . . . . . . . . . . . . . . . . . +chr1 228494357 . C T 2768.85 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=212;CIGAR=1X;DP=3082;DPB=213;DPRA=0;EPP=17.8009;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.9811;MQMR=40;NS=1;NUMALT=1;ODDS=293.383;PAIRED=0.985849;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7806;QR=14;RO=1;RPL=176;RPP=203.769;RPPR=5.18177;RPR=36;RUN=1;SAF=61;SAP=85.9769;SAR=151;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,33,34,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-675.358,-62.7204,0:213:1:212:7806:14:1,212 0/1:-99.0694,0,-112.334:81:42:39:1426:1578 . 0/1:-277.557,0,-283.861:216:109:107:3946:4016:109,107 0/1:-281.815,0,-333.175:244:130:114:4097:4677 . . . 0/1:-256.117,0,-265.86:204:103:101:3660:3785 0/1:-255.421,0,-254.106:202:99:103:3710:3635:99,103 . 0/1:-375.482,0,-330.735:288:138:149:5322:4856 . . . 0/1:-368.834,0,-280.063:257:112:144:5191:4157 . . . . 0/1:-346.122,0,-353.621:279:142:137:4981:5048:142,137 0/1:-43.6031,0,-232.458:110:84:25:874:3051:84,25 0/1:-112.55,0,-159.913:109:61:47:1663:2209 . 1/1:-350.848,-29.0262,0:113:2:111:4104:54:2,111 . . . . . . . 1/1:-601.52,-57.2417,0:197:1:194:6993:16 0/1:-173.134,0,-284.579:177:105:72:2606:3892 0/1:-219.751,0,-246.097:181:95:86:3161:3456 . 0/1:-325.582,0,-222.172:211:90:121:4505:3301 +chr1 228494696 . G A 7528.69 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=552;CIGAR=1X;DP=7557;DPB=552;DPRA=0;EPP=21.2003;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7518;MQMR=0;NS=1;NUMALT=1;ODDS=769.84;PAIRED=0.992754;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=20335;QR=0;RO=0;RPL=210;RPP=71.5533;RPPR=0;RPR=342;RUN=1;SAF=282;SAP=3.57677;SAR=270;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1757.32,-166.169,0:552:0:552:20335:0:0,552 0/1:-270.868,0,-305.324:224:119:105:3901:4278 . 0/1:-638.354,0,-584.765:477:231:246:9036:8370:231,246 0/1:-1023.31,0,-863.462:736:345:389:14379:12465 . . . 0/1:-653.825,0,-472.316:438:192:246:9066:6967 0/1:-686.635,0,-650.817:523:257:266:9771:9288:257,266 . 0/1:-686.979,0,-799.104:600:313:286:10065:11244 . . . 0/1:-713.154,0,-759.358:588:303:281:10284:10778 . . . . 0/1:-858.173,0,-1000.22:726:386:340:12440:14018:386,340 0/1:-273.728,0,-296.042:232:120:112:3962:4248:120,112 0/1:-283.229,0,-260.858:220:106:114:4047:3740 . 1/1:-869.345,-75.9853,0:274:2:272:10117:70:2,272 . . . . . . . 1/1:-1660.49,-148.99,0:518:2:516:19292:76 0/1:-647.907,0,-572.021:478:229:249:9133:8231 0/1:-495.65,0,-549.672:409:212:195:7142:7737 . 0/1:-719.976,0,-698.849:562:281:280:10270:9995 +chr1 228494790 . G A 12945.07 . AB=0.496403;ABP=3.04154;AC=26;AF=0.5;AN=40;AO=138;CIGAR=1X;DP=14206;DPB=278;DPRA=0;EPP=19.1233;EPPR=10.5174;GTI=0;LEN=1;MEANALT=1;MQM=41.8696;MQMR=42;NS=1;NUMALT=1;ODDS=799.769;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5069;QR=5180;RO=140;RPL=73;RPP=4.01736;RPPR=11.9444;RPR=65;RUN=1;SAF=62;SAP=6.09442;SAR=76;SF=1,2,5,6,10,12,13,16,17,20,21,23,25,26,27,28,29,30,31,33;SRF=67;SRP=3.56868;SRR=73;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-356.186,0,-365.111:278:140:138:5069:5180 1/1:-2546.15,-246.989,0:829:1:826:29425:27 . . 0/1:-1153.47,0,-995.385:841:392:448:16233:14396:392,448 1/1:-1934.26,-181.975,0:615:1:614:22408:32:1,614 . . . 0/1:-781.456,0,-792.395:617:308:309:11157:11287:308,309 . 0/1:-1414.89,0,-1182.31:1017:466:550:19866:17221:466,550 1/1:-2212.42,-213.233,0:727:2:722:25652:54 . . 0/1:-1134.01,0,-933.26:819:371:444:15931:13609:371,444 0/1:-1190.57,0,-1189.17:925:458:465:16950:17023 . . 0/1:-1259.15,0,-1179.93:953:456:493:17835:16951:456,493 0/1:-145.513,0,-555.619:282:207:74:2675:7393:207,74 . 1/1:-2852.35,-269.226,0:911:2:907:32969:49 . 1/1:-2840.04,-273.881,0:916:1:913:32768:14:1,913 0/1:-960.46,0,-840.925:751:351:398:13735:12289 0/1:-934.916,0,-975.503:764:383:378:13476:13910:383,378 0/1:-501.573,0,-574.779:432:227:204:7287:8110 0/1:-1219.4,0,-1188.65:988:476:507:17583:17146 0/1:-736.517,0,-651.351:549:260:287:10369:9410 1/1:-1103.17,-103.097,0:355:1:353:12725:39 . 0/1:-823.31,0,-798.348:637:312:324:11698:11414 . . . +chr1 228495177 . C T 1260.84 . AB=0.392638;ABP=19.3296;AC=1;AF=0.5;AN=2;AO=64;CIGAR=1X;DP=163;DPB=163;DPRA=0;EPP=3.14602;EPPR=6.26751;GTI=0;LEN=1;MEANALT=3;MQM=41.9375;MQMR=41.9792;NS=1;NUMALT=1;ODDS=290.32;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2132;QR=3297;RO=96;RPL=45;RPP=25.9465;RPPR=50.8732;RPR=19;RUN=1;SAF=20;SAP=22.5536;SAR=44;SF=28;SRF=37;SRP=13.9581;SRR=59;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon46:c.C12411T:p.G4137G,OBSCN:NM_052843:exon46:c.C12411T:p.G4137G,OBSCN:NM_001271223:exon57:c.C15282T:p.G5094G;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372059649;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0021;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0.0035;ExAC_nontcga_SAS=0.0066;AF=0.0003;AF_popmax=0.0003;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=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=.;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=.;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-137.99,0,-240.441:163:96:64:2132:3297 . . . . . . . . +chr1 228495983 . G A 10644.00 . AB=0.537676;ABP=12.6641;AC=1;AF=0.5;AN=2;AO=421;CIGAR=1X;DP=783;DPB=783;DPRA=0;EPP=10.8555;EPPR=8.09723;GTI=0;LEN=1;MEANALT=2;MQM=41.6247;MQMR=41.2618;NS=1;NUMALT=1;ODDS=1980.28;PAIRED=0.988124;PAIREDR=0.961003;PAO=0;PQA=0;PQR=0;PRO=0;QA=15298;QR=13006;RO=359;RPL=279;RPP=99.8188;RPPR=119.877;RPR=142;RUN=1;SAF=181;SAP=20.9649;SAR=240;SF=5;SRF=139;SRP=42.6956;SRR=220;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.G12638A:p.R4213H,OBSCN:NM_052843:exon47:c.G12638A:p.R4213H,OBSCN:NM_001271223:exon58:c.G15509A:p.R5170H;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs56306215;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.157;SIFT_converted_rankscore=0.247;SIFT_pred=T;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.926;Polyphen2_HVAR_rankscore=0.644;Polyphen2_HVAR_pred=D;LRT_score=0.203;LRT_converted_rankscore=0.165;LRT_pred=N;MutationTaster_score=0.990;MutationTaster_converted_rankscore=0.242;MutationTaster_pred=N;MutationAssessor_score=1.665;MutationAssessor_score_rankscore=0.427;MutationAssessor_pred=L;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-1.71;PROVEAN_converted_rankscore=0.406;PROVEAN_pred=N;VEST3_score=0.155;VEST3_rankscore=0.255;MetaSVM_score=-0.810;MetaSVM_rankscore=0.546;MetaSVM_pred=T;MetaLR_score=0.288;MetaLR_rankscore=0.660;MetaLR_pred=T;M-CAP_score=0.061;M-CAP_rankscore=0.683;M-CAP_pred=D;REVEL_score=0.125;REVEL_rankscore=0.350;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.180;CADD_raw_rankscore=0.323;CADD_phred=17.37;DANN_score=0.994;DANN_rankscore=0.630;fathmm-MKL_coding_score=0.724;fathmm-MKL_coding_rankscore=0.352;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.021;Eigen-PC-raw=-0.005;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.106;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=4.08;GERP++_RS_rankscore=0.467;phyloP100way_vertebrate=1.369;phyloP100way_vertebrate_rankscore=0.336;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.009;phastCons100way_vertebrate_rankscore=0.180;phastCons20way_mammalian=0.086;phastCons20way_mammalian_rankscore=0.183;SiPhy_29way_logOdds=6.249;SiPhy_29way_logOdds_rankscore=0.199;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=0.0017;ExAC_nontcga_ALL=0.0013;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=9.053e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0011;AF_popmax=0.0019;AF_male=0.0014;AF_female=0.0009;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0019;AF_fin=0.0009;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0016;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-1085.66,0,-885.228:783:359:421:15298:13006:359,421 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228496013 . C T 4362.57 . AB=0.513889;ABP=3.61349;AC=1;AF=0.5;AN=2;AO=185;CIGAR=1X;DP=360;DPB=360;DPRA=0;EPP=46.6862;EPPR=3.32051;GTI=0;LEN=1;MEANALT=1;MQM=41.5784;MQMR=41.0457;NS=1;NUMALT=1;ODDS=918.322;PAIRED=0.989189;PAIREDR=0.942857;PAO=0;PQA=0;PQR=0;PRO=0;QA=6499;QR=6084;RO=175;RPL=115;RPP=26.7791;RPPR=72.8076;RPR=70;RUN=1;SAF=73;SAP=20.8633;SAR=112;SF=9;SRF=67;SRP=23.8688;SRR=108;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon47:c.C12668T:p.T4223M,OBSCN:NM_052843:exon47:c.C12668T:p.T4223M,OBSCN:NM_001271223:exon58:c.C15539T:p.T5180M;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147355183;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.814;Polyphen2_HDIV_rankscore=0.435;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.162;Polyphen2_HVAR_rankscore=0.356;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.525;MutationTaster_converted_rankscore=0.319;MutationTaster_pred=D;MutationAssessor_score=2.92;MutationAssessor_score_rankscore=0.846;MutationAssessor_pred=M;FATHMM_score=-0.32;FATHMM_converted_rankscore=0.700;FATHMM_pred=T;PROVEAN_score=-3.99;PROVEAN_converted_rankscore=0.742;PROVEAN_pred=D;VEST3_score=0.396;VEST3_rankscore=0.459;MetaSVM_score=-0.224;MetaSVM_rankscore=0.771;MetaSVM_pred=T;MetaLR_score=0.274;MetaLR_rankscore=0.646;MetaLR_pred=T;M-CAP_score=0.069;M-CAP_rankscore=0.706;M-CAP_pred=D;REVEL_score=0.305;REVEL_rankscore=0.630;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.963;CADD_raw_rankscore=0.667;CADD_phred=25.1;DANN_score=0.949;DANN_rankscore=0.251;fathmm-MKL_coding_score=0.885;fathmm-MKL_coding_rankscore=0.482;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.067;Eigen-PC-raw=0.081;GenoCanyon_score=0.014;GenoCanyon_score_rankscore=0.126;integrated_fitCons_score=0.635;integrated_fitCons_score_rankscore=0.413;integrated_confidence_value=0;GERP++_RS=5.14;GERP++_RS_rankscore=0.699;phyloP100way_vertebrate=1.814;phyloP100way_vertebrate_rankscore=0.384;phyloP20way_mammalian=0.061;phyloP20way_mammalian_rankscore=0.167;phastCons100way_vertebrate=0.912;phastCons100way_vertebrate_rankscore=0.315;phastCons20way_mammalian=0.174;phastCons20way_mammalian_rankscore=0.211;SiPhy_29way_logOdds=15.222;SiPhy_29way_logOdds_rankscore=0.729;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=0.0006;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0007;AF=0.0002;AF_popmax=0.0013;AF_male=0.0003;AF_female=0.0001;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0013;AF_nfe=0.0003;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=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-451.992,0,-415.21:360:175:185:6499:6084:175,185 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228496014 . G A 5406.79 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=417;CIGAR=1X;DP=5585;DPB=419;DPRA=0;EPP=8.68112;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.8393;MQMR=42;NS=1;NUMALT=1;ODDS=574.4;PAIRED=0.995204;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14791;QR=27;RO=1;RPL=280;RPP=109.496;RPPR=5.18177;RPR=137;RUN=1;SAF=158;SAP=56.1307;SAR=259;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,33,34,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1278.48,-123.346,0:419:1:417:14791:27:1,417 0/1:-231.898,0,-218.716:178:86:92:3285:3129 . 0/1:-499.613,0,-492.299:401:199:201:7210:7106:199,201 0/1:-712.144,0,-659.169:544:263:280:10131:9463 . . . 0/1:-394.775,0,-452.634:338:180:157:5721:6467 0/1:-388.537,0,-477.649:360:189:168:5805:6792:189,168 . 0/1:-580.984,0,-568.982:481:233:242:8370:8163 . . . 0/1:-608.506,0,-458.212:428:189:239:8499:6734 . . . . 0/1:-593.918,0,-475.011:434:197:236:8474:7003:197,236 0/1:-33.315,0,-377.917:170:140:30:968:4907:140,30 0/1:-161.017,0,-209.755:162:86:75:2403:2953 . 1/1:-545.489,-41.6366,0:196:8:187:6454:192:8,187 . . . . . . . 1/1:-1261.38,-116.088,0:420:3:414:14676:107 0/1:-536.103,0,-355.436:356:148:208:7418:5330 0/1:-481.701,0,-225.831:285:103:182:6568:3630 . 0/1:-596.743,0,-428.223:413:177:232:8298:6363 +chr1 228497286 . C A 585.15 . AB=0.282051;ABP=51.2838;AC=1;AF=0.5;AN=2;AO=33;CIGAR=1X;DP=117;DPB=117;DPRA=0;EPP=4.65535;EPPR=3.42391;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9762;NS=1;NUMALT=1;ODDS=134.736;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1223;QR=3093;RO=84;RPL=19;RPP=4.65535;RPPR=13.3506;RPR=14;RUN=1;SAF=24;SAP=17.8158;SAR=9;SF=21;SRF=40;SRP=3.42391;SRR=44;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-70.9855,0,-233.896:117:84:33:1223:3093:84,33 . . . . . . . . . . . . . . . +chr1 228503677 . A G 12125.22 . AB=0;ABP=0;AC=44;AF=1;AN=64;AO=575;CIGAR=1X;DP=21030;DPB=575;DPRA=0;EPP=60.1446;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7896;MQMR=0;NS=1;NUMALT=1;ODDS=801.724;PAIRED=0.989565;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=20757;QR=0;RO=0;RPL=300;RPP=5.3706;RPPR=0;RPR=275;RUN=1;SAF=324;SAP=23.1351;SAR=251;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1800.85,-173.092,0:575:0:575:20757:0:0,575 1/1:-886.762,-82.672,0:287:1:286:10277:39 1/1:-2171.28,-214.922,0:719:1:715:25029:14 0/1:-838.208,0,-768.775:651:314:335:11892:11196:314,335 0/1:-1028.42,0,-1112.1:863:446:416:14820:15806 0/1:-961.286,0,-1196.09:868:467:397:14063:16833:467,397 1/1:-1363.15,-129.506,0:441:1:440:15708:33:1,440 . 0/1:-737.843,0,-735.003:589:293:295:10550:10498 0/1:-629.309,0,-695:523:272:251:9041:9805:272,251 0/1:-775.141,0,-908.884:668:356:312:11244:12776:356,312 0/1:-906.127,0,-862.771:737:359:375:12946:12486 0/1:-1061.73,0,-1292.52:960:516:439:15634:18247:516,439 1/1:-2052.47,-202.292,0:673:0:672:23649:0 . 0/1:-931.463,0,-929.167:759:375:379:13461:13440 0/1:-822.587,0,-794.767:642:312:326:11670:11379:312,326 0/1:-941.402,0,-1123.66:826:440:383:13674:15833 . . 1/1:-2623.44,-251.796,0:851:2:848:30286:45:2,848 0/1:-635.205,0,-69.2599:299:57:242:8309:1822:57,242 0/1:-341.214,0,-291.942:272:128:143:4842:4279 1/1:-2701.66,-259.488,0:863:0:862:31104:0 1/1:-814.276,-79.0148,0:267:1:266:9356:14:1,266 1/1:-3180.45,-316.684,0:1055:0:1052:36649:0:0,1052 0/1:-982.755,0,-1090.96:897:463:428:14410:15634 0/1:-1036.8,0,-1055.21:852:433:418:14872:15073:433,418 0/1:-502.307,0,-546.086:447:231:215:7304:7795 0/1:-1086.54,0,-1002.03:882:425:454:15553:14586 0/1:-730.566,0,-694.264:576:282:291:10509:9965 1/1:-1284.31,-122.922,0:425:2:423:14798:54 1/1:-1814.71,-175.051,0:592:1:591:20884:32 1/1:-1951.56,-188.065,0:633:1:632:22480:25 0/1:-782.714,0,-704.852:591:280:309:11053:10166 . 0/1:-801.792,0,-1044.87:747:406:339:11870:14612 +chr1 228503711 . G A 6290.89 . AB=0.496;ABP=3.07979;AC=1;AF=0.5;AN=2;AO=248;CIGAR=1X;DP=500;DPB=500;DPRA=0;EPP=59.0483;EPPR=60.9507;GTI=0;LEN=1;MEANALT=1;MQM=41.879;MQMR=41.9841;NS=1;NUMALT=1;ODDS=1448.53;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9224;QR=9374;RO=252;RPL=99;RPP=24.9001;RPPR=21.2438;RPR=149;RUN=1;SAF=99;SAP=24.9001;SAR=149;SF=6;SRF=106;SRP=16.7974;SRR=146;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-646.502,0,-661.204:500:252:248:9224:9374:252,248 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228504472 . T C 6240.71 . AB=0;ABP=0;AC=44;AF=1;AN=64;AO=371;CIGAR=1X;DP=11790;DPB=375;DPRA=0;EPP=26.241;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=41.3639;MQMR=42;NS=1;NUMALT=1;ODDS=498.804;PAIRED=0.973046;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=12652;QR=71;RO=2;RPL=104;RPP=158.519;RPPR=7.35324;RPR=267;RUN=1;SAF=190;SAP=3.4844;SAR=181;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1088.34,-105.981,0:375:2:371:12652:71:2,371 1/1:-428.631,-43.6494,0:145:0:145:4918:0 1/1:-1146.16,-119.208,0:399:0:396:13237:0 0/1:-388.667,0,-400.998:334:170:162:5612:5833:170,162 0/1:-541.171,0,-620.606:494:262:228:7939:8854 0/1:-549.619,0,-579.581:473:240:230:7953:8395:240,230 1/1:-797.705,-80.676,0:269:0:268:9196:0:0,268 . 0/1:-403.087,0,-346.129:318:150:166:5743:5077 0/1:-343.08,0,-415.898:328:174:151:5073:5969:174,151 0/1:-482.22,0,-479.348:409:201:205:6936:6963:201,205 0/1:-475.333,0,-478.446:454:224:225:7044:7158 0/1:-592.03,0,-739.186:568:302:259:8779:10502:302,259 1/1:-1204.47,-127.848,0:429:1:426:13886:26 . 0/1:-434.023,0,-514.773:394:209:184:6390:7324 0/1:-424.947,0,-484.435:391:202:185:6282:6991:202,185 0/1:-511.609,0,-595.194:472:250:221:7574:8516 . . 1/1:-1251.97,-130.949,0:439:1:436:14535:13:1,436 0/1:-296.638,0,-38.8155:147:29:117:3944:947:29,117 0/1:-162.843,0,-125.158:130:57:72:2315:1877 1/1:-1561.09,-151.97,0:521:2:519:18093:53 1/1:-429.105,-44.5524,0:148:0:148:4919:0:0,148 1/1:-1719.48,-177.57,0:594:1:591:19805:14:1,591 0/1:-399.013,0,-516.133:423:223:194:6006:7377 0/1:-484.451,0,-576.584:468:248:216:7221:8310:248,216 0/1:-294.766,0,-298.788:273:135:133:4329:4396 0/1:-665.898,0,-670.836:596:299:295:9696:9850 0/1:-391.848,0,-332.125:316:144:168:5583:4895 1/1:-506.801,-53.0364,0:181:1:180:5818:15 1/1:-1000.56,-101.513,0:358:2:356:11648:67 1/1:-932.467,-91.9783,0:328:2:325:10850:72 0/1:-292.64,0,-335.843:277:146:127:4334:4885 . 0/1:-350.286,0,-418.239:339:178:156:5176:5978 +chr1 228504591 . C A 4901.52 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=409;CIGAR=1X;DP=5046;DPB=411;DPRA=0;EPP=3.44035;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=41.5012;MQMR=32.5;NS=1;NUMALT=1;ODDS=557.326;PAIRED=0.977995;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14990;QR=46;RO=2;RPL=327;RPP=321.696;RPPR=7.35324;RPR=82;RUN=1;SAF=154;SAP=57.1697;SAR=255;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,33,34,36;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1286.71,-119.44,0:411:2:409:14990:46:2,409 0/1:-233.754,0,-219.28:177:86:91:3352:3131 . 0/1:-388.536,0,-298.506:281:130:150:5469:4482:130,150 0/1:-715.3,0,-621.927:530:251:279:10183:8975 . . . 0/1:-443.499,0,-351.48:320:147:173:6305:5216 0/1:-440.732,0,-301.286:309:137:172:6205:4638:137,172 . 0/1:-580.088,0,-357.488:384:155:228:8166:5433 . . . 0/1:-467.542,0,-406.451:362:172:188:6816:6029 . . . . 0/1:-602.094,0,-527.704:459:217:240:8678:7725:217,240 0/1:-33.1207,0,-282.263:129:104:25:881:3692:104,25 0/1:-156.444,0,-141.783:118:57:61:2218:2055 . 1/1:-460.629,-43.9504,0:146:0:146:5307:0:0,146 . . . . . . . 1/1:-1065.87,-103.378,0:356:2:354:12714:40 0/1:-450.828,0,-428.603:358:173:185:6609:6222 0/1:-381.752,0,-333.837:289:137:151:5486:4908 . 0/1:-605.777,0,-419.528:417:182:235:8597:6333 +chr1 228504668 . CG CA 366.41 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=15;CIGAR=1M1X;DP=17;DPB=17;DPRA=0;EPP=4.31318;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.7333;MQMR=0;NS=1;NUMALT=1;ODDS=12.7799;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=488;QR=0;RO=0;RPL=15;RPP=35.5824;RPPR=0;RPR=0;RUN=1;SAF=6;SAP=4.31318;SAR=9;SF=24;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=OBSCN:NM_001098623:exon51:c.13545delG:p.A4515fs,OBSCN:NM_052843:exon51:c.13545delG:p.A4515fs,OBSCN:NM_001271223:exon62:c.16416delG:p.A5472fs;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=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-42.7881,-4.51545,0:17:0:15:488:0:0,15 . . . . . . . . . . . . +chr1 228504669 . G A 727.26 . AB=0;ABP=0;AC=16;AF=1;AN=28;AO=81;CIGAR=1X;DP=676;DPB=81;DPRA=0;EPP=62.2298;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=40.679;MQMR=0;NS=1;NUMALT=1;ODDS=116.895;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2720;QR=0;RO=0;RPL=78;RPP=153.807;RPPR=0;RPR=3;RUN=1;SAF=18;SAP=57.2971;SAR=63;SF=0,1,3,4,8,9,11,15,20,22,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-233.36,-24.3834,0:81:0:81:2720:0:0,81 0/1:-44.0002,0,-29.4496:29:12:17:616:435 . 0/1:-45.7441,0,-9.25564:23:6:17:600:180:6,17 0/1:-155.796,0,-44.7502:85:23:61:2080:798 . . . 0/1:-75.5766,0,-47.1551:50:20:30:1060:707 0/1:-84.0504,0,-25.9911:48:14:34:1118:456:14,34 . 0/1:-76.7454,0,-0.735921:39:4:35:1061:138 . . . 0/1:-68.7454,0,-12.5188:35:8:27:933:259 . . . . 0/1:-97.7038,0,-78.8936:72:32:40:1402:1177:32,40 . 0/1:-12.7194,0,-7.29264:8:3:5:168:107 . . . . . . . . . 1/1:-118.167,-12.6433,0:42:0:42:1408:0 0/1:-99.7125,0,-61.7181:66:26:40:1365:937 0/1:-68.5609,0,-6.6293:33:6:27:920:184 . 0/1:-109.397,0,-46.0487:65:22:43:1496:744 +chr1 228504670 . C T 537.80 . AB=0.413793;ABP=4.88226;AC=25;AF=0.5;AN=38;AO=12;CIGAR=1X;DP=682;DPB=29;DPRA=0;EPP=29.068;EPPR=7.89611;GTI=0;LEN=1;MEANALT=2;MQM=41.8333;MQMR=40.625;NS=1;NUMALT=1;ODDS=32.9451;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=420;QR=582;RO=16;RPL=12;RPP=29.068;RPPR=37.7539;RPR=0;RUN=1;SAF=0;SAP=29.068;SAR=12;SF=1,2,5,6,10,12,13,16,17,20,23,25,26,27,28,29,30,31,33;SRF=5;SRP=7.89611;SRR=11;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-28.0906,0,-40.9395:29:16:12:420:582 1/1:-57.1711,-6.32163,0:21:0:21:701:0 . . 0/1:-60.2038,0,-41.6771:41:18:23:828:624:18,23 1/1:-37.0846,-3.61236,0:12:0:12:419:0:0,12 . . . 0/1:-87.4949,0,-20.2407:48:14:34:1168:420:14,34 . 0/1:-41.0264,0,-22.9697:28:12:16:565:382:12,16 1/1:-103.449,-10.235,0:34:0:34:1193:0 . . 0/1:-61.6237,0,-30.2248:38:14:24:858:473:14,24 0/1:-17.5208,0,-36.4587:23:14:9:293:492 . . 0/1:-77.2188,0,-100.528:72:40:32:1155:1437:40,32 . . 1/1:-211.984,-21.6742,0:73:0:72:2512:0 . 1/1:-155.537,-15.6536,0:52:0:52:1795:0:0,52 0/1:-49.048,0,-7.21185:24:5:19:668:161 0/1:-44.1848,0,-17.2016:28:9:18:623:285:9,18 0/1:-17.4344,0,-23.4532:20:11:9:272:331 0/1:-77.8806,0,-31.4379:49:16:32:1084:525 0/1:-6.62409,0,-21.279:11:8:3:110:276 1/1:-49.3863,-4.81648,0:16:0:16:571:0 . 0/1:-55.2772,0,-100.578:63:39:24:850:1367 . . . +chr1 228504700 . AGC AGCTCCC 60.36 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=5;CIGAR=2M4I1M;DP=10;DPB=20.6667;DPRA=0;EPP=3.44459;EPPR=3.0103;GTI=0;LEN=4;MEANALT=3;MQM=37.2;MQMR=42;NS=1;NUMALT=1;ODDS=0.535382;PAIRED=0.8;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=146;QR=66;RO=2;RPL=3;RPP=3.44459;RPPR=7.35324;RPR=2;RUN=1;SAF=2;SAP=3.44459;SAR=3;SF=17;SRF=1;SRP=3.0103;SRR=1;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;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=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-9.90404,0,-3.7566:10:2:5:146:66 . . . . . . . . . . . . . . . . . . . +chr1 228504701 . GCT GCTCCCT 161.36 . AB=0;ABP=0;AC=35;AF=1;AN=42;AO=11;CIGAR=1M4I2M;DP=192;DPB=25.6667;DPRA=0;EPP=4.78696;EPPR=0;GTI=0;LEN=4;MEANALT=1;MQM=35.6364;MQMR=0;NS=1;NUMALT=1;ODDS=19.8544;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=247;QR=0;RO=0;RPL=10;RPP=19.0002;RPPR=0;RPR=1;RUN=1;SAF=3;SAP=7.94546;SAR=8;SF=0,1,2,3,4,8,10,11,13,15,16,20,23,25,26,27,29,31,32,33,34;SRF=0;SRP=0;SRR=0;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;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=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-21.3583,-3.31133,0:11:0:11:247:0:0,11 1/1:.,.,0:3:0:3:109:0 1/1:.,.,0:8:0:8:249:0 0/1:-10.7814,0,-4.17863:6:2:4:142:64:2,4 0/1:.,.,-13.3553:11:5:6:172:188 . . . 0/1:.,.,-8.07221:12:4:8:267:137 . 0/1:-20.372,0,-3.71142:10:2:8:267:73:2,8 1/1:.,.,0:14:0:14:308:0 . 1/1:.,.,0:10:0:9:295:0 . 1/1:.,.,0:2:0:2:72:0 0/1:-11.55,0,-4.62201:7:2:5:158:73:2,5 . . . 1/1:-40.1462,-4.51545,0:15:0:15:470:0:0,15 . . 1/1:.,.,0:14:0:13:413:0 . 1/1:-42.9713,-4.51545,0:14:0:14:455:0:0,14 1/1:.,.,0:5:0:5:159:0 0/1:-17.1697,0,-2.49081:10:2:8:198:62:2,8 . 0/1:.,.,-1.48419:16:2:13:421:74 . 1/1:.,.,0:5:0:5:161:0 1/1:.,.,0:3:0:2:45:0 1/1:.,.,0:11:0:11:365:0 1/1:.,.,0:5:0:4:93:0 . . +chr1 228505204 . G A 3167.86 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=198;CIGAR=1X;DP=3454;DPB=201;DPRA=0;EPP=6.56362;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=41.6768;MQMR=0;NS=1;NUMALT=1;ODDS=279.091;PAIRED=0.969697;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7248;QR=0;RO=0;RPL=82;RPP=15.6882;RPPR=0;RPR=116;RUN=1;SAF=114;SAP=12.8806;SAR=84;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-624.87,-59.6039,0:201:0:198:7248:0:0,198 0/1:-116.771,0,-93.6382:87:39:47:1641:1414 . 0/1:-282.752,0,-367.696:258:143:115:4164:5130:143,115 0/1:-443.012,0,-399.809:339:164:175:6324:5826 . . . 0/1:-291.583,0,-306.15:237:120:116:4200:4341 0/1:-325.026,0,-265.842:245:112:131:4636:3902:112,131 . 0/1:-388.493,0,-443.637:348:180:166:5823:6310 . . . 0/1:-318.29,0,-304.096:259:130:126:4577:4431 . . . . 0/1:-416.019,0,-395.386:328:163:165:5988:5730:163,165 0/1:-94.2344,0,-122.731:93:52:41:1419:1728:52,41 0/1:-105.615,0,-124.997:102:54:48:1592:1817 . 1/1:-315.567,-27.0022,0:102:1:100:3682:38:1,100 . . . . . . . 1/1:-653.649,-62.6704,0:214:1:212:7633:16 0/1:-254.093,0,-264.077:205:103:101:3670:3750 0/1:-235.263,0,-212.667:183:90:93:3371:3075 . 0/1:-356.443,0,-262.285:253:110:138:5001:3887 +chr1 228505257 . G A 8096.45 . AB=0.501773;ABP=3.0257;AC=2;AF=0.5;AN=4;AO=283;CIGAR=1X;DP=1308;DPB=564;DPRA=0;EPP=3.38628;EPPR=3.07985;GTI=0;LEN=1;MEANALT=1;MQM=40.9682;MQMR=39.6584;NS=1;NUMALT=1;ODDS=1524.58;PAIRED=0.961131;PAIREDR=0.907473;PAO=0;PQA=0;PQR=0;PRO=0;QA=10288;QR=10184;RO=281;RPL=64;RPP=187.355;RPPR=108.794;RPR=219;RUN=1;SAF=161;SAP=14.681;SAR=122;SF=8,29;SRF=149;SRP=5.24359;SRR=132;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon52:c.G13654A:p.G4552S,OBSCN:NM_052843:exon52:c.G13654A:p.G4552S,OBSCN:NM_001271223:exon63:c.G16525A:p.G5509S;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201223554;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.475;SIFT_converted_rankscore=0.083;SIFT_pred=T;Polyphen2_HDIV_score=0.271;Polyphen2_HDIV_rankscore=0.347;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.011;Polyphen2_HVAR_rankscore=0.216;Polyphen2_HVAR_pred=B;LRT_score=0.012;LRT_converted_rankscore=0.295;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.82;MutationAssessor_score_rankscore=0.015;MutationAssessor_pred=N;FATHMM_score=0.27;FATHMM_converted_rankscore=0.592;FATHMM_pred=T;PROVEAN_score=-1.29;PROVEAN_converted_rankscore=0.324;PROVEAN_pred=N;VEST3_score=0.277;VEST3_rankscore=0.366;MetaSVM_score=-0.965;MetaSVM_rankscore=0.383;MetaSVM_pred=T;MetaLR_score=0.042;MetaLR_rankscore=0.181;MetaLR_pred=T;M-CAP_score=0.019;M-CAP_rankscore=0.418;M-CAP_pred=T;REVEL_score=0.124;REVEL_rankscore=0.347;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.689;CADD_raw_rankscore=0.500;CADD_phred=23.3;DANN_score=0.988;DANN_rankscore=0.468;fathmm-MKL_coding_score=0.215;fathmm-MKL_coding_rankscore=0.212;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.644;Eigen-PC-raw=-0.498;GenoCanyon_score=0.024;GenoCanyon_score_rankscore=0.135;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=4.42;GERP++_RS_rankscore=0.526;phyloP100way_vertebrate=2.319;phyloP100way_vertebrate_rankscore=0.432;phyloP20way_mammalian=0.900;phyloP20way_mammalian_rankscore=0.413;phastCons100way_vertebrate=0.857;phastCons100way_vertebrate_rankscore=0.303;phastCons20way_mammalian=0.665;phastCons20way_mammalian_rankscore=0.302;SiPhy_29way_logOdds=3.038;SiPhy_29way_logOdds_rankscore=0.057;Interpro_domain=Fibronectin_type_III|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=0.0006;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0015;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=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;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=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-711.528,0,-680.656:564:281:283:10288:10184 . . . . . . . . . . . . . . . . . . . . 0/1:-966.975,0,-835.815:744:348:396:13861:12407 . . . . . . . +chr1 228505574 . C T 3365.75 . AB=0.49827;ABP=3.01781;AC=1;AF=0.5;AN=2;AO=144;CIGAR=1X;DP=289;DPB=289;DPRA=0;EPP=5.96592;EPPR=3.14508;GTI=0;LEN=1;MEANALT=1;MQM=41.4306;MQMR=41.7241;NS=1;NUMALT=1;ODDS=774.992;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5124;QR=5330;RO=145;RPL=51;RPP=29.6108;RPPR=25.7883;RPR=93;RUN=1;SAF=110;SAP=90.1105;SAR=34;SF=10;SRF=106;SRP=70.2361;SRR=39;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs762874103;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.945e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.188e-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=9.029e-05;non_neuro_AF_popmax=7.351e-05;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=Name\x3dOREG1507129|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-355.509,0,-372.586:289:145:144:5124:5330:145,144 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228505668 . C G 11035.23 . AB=0;ABP=0;AC=44;AF=1;AN=64;AO=545;CIGAR=1X;DP=18354;DPB=545;DPRA=0;EPP=9.0705;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7982;MQMR=0;NS=1;NUMALT=1;ODDS=760.136;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=20213;QR=0;RO=0;RPL=243;RPP=16.8798;RPPR=0;RPR=302;RUN=1;SAF=336;SAP=67.2739;SAR=209;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1747.94,-164.061,0:545:0:545:20213:0:0,545 1/1:-658.048,-61.7112,0:205:0:205:7608:0 1/1:-1975.76,-186.657,0:626:1:624:22904:17 0/1:-649.482,0,-817.063:567:309:258:9606:11487:309,258 0/1:-940.586,0,-1008.01:756:386:368:13583:14322 0/1:-893.103,0,-826.202:670:324:345:12814:11914:324,345 1/1:-1376.64,-130.346,0:433:0:433:15976:0:0,433 . 0/1:-665.539,0,-661.299:513:252:259:9538:9429 0/1:-639.46,0,-653.375:496:247:247:9206:9313:247,247 0/1:-684.524,0,-755.196:555:287:268:9890:10706:287,268 0/1:-762.522,0,-853.857:630:326:304:11046:12049 0/1:-1094.88,0,-1084.97:844:421:423:15627:15554:421,423 1/1:-2043.49,-195.67,0:651:0:650:23779:0 . 0/1:-826.411,0,-806.8:652:318:330:11859:11675 0/1:-684.598,0,-867.771:594:325:269:10005:12173:325,269 0/1:-880.985,0,-905.968:692:348:342:12634:12926 . . 1/1:-2032.76,-193.261,0:642:0:642:23561:0:0,642 0/1:-582.941,0,-144.011:287:71:216:7728:2658:71,216 0/1:-367.629,0,-363.446:283:139:143:5220:5180 1/1:-2260.7,-212.226,0:705:0:705:26133:0 1/1:-876.713,-82.4822,0:274:0:274:10135:0:0,274 1/1:-2827.76,-266.903,0:900:1:897:32841:39:1,897 0/1:-956.093,0,-784.189:704:322:380:13468:11581 0/1:-1118.1,0,-899.925:785:352:429:15716:13132:352,429 0/1:-544.839,0,-547.616:437:220:217:7827:7846 0/1:-1021.09,0,-988.572:805:395:409:14604:14275 0/1:-486.761,0,-799.637:490:295:195:7331:10975 1/1:-1102.62,-105.059,0:349:0:349:12720:0 1/1:-1662.55,-153.416,0:526:2:524:19404:54 1/1:-1740.6,-162.255,0:539:0:539:20150:0 0/1:-650.537,0,-744.448:535:278:256:9393:10478 . 0/1:-941.68,0,-782.252:664:306:358:13261:11397 +chr1 228505699 . T C 12959.56 . AB=0;ABP=0;AC=44;AF=1;AN=64;AO=635;CIGAR=1X;DP=22176;DPB=636;DPRA=0;EPP=78.9298;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.8016;MQMR=0;NS=1;NUMALT=1;ODDS=884.902;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=22700;QR=0;RO=0;RPL=335;RPP=7.19936;RPPR=0;RPR=300;RUN=1;SAF=324;SAP=3.58822;SAR=311;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1971,-191.154,0:636:0:635:22700:0:0,635 1/1:-831.759,-77.2186,0:269:1:267:9612:39 1/1:-2303.05,-225.332,0:756:1:752:26620:15 0/1:-792.046,0,-840.831:660:335:322:11542:11986:335,322 0/1:-1142.84,0,-1118.5:922:450:466:16465:16091 0/1:-1016.36,0,-938.237:787:377:406:14548:13561:377,406 1/1:-1717.56,-165.265,0:550:0:549:19860:0:0,549 . 0/1:-658.881,0,-807.656:598:323:274:9701:11408 0/1:-661.225,0,-780.673:604:321:277:9719:11121:321,277 0/1:-797.111,0,-816.999:666:338:323:11508:11736:338,323 0/1:-917.263,0,-965.533:779:397:380:13266:13795 0/1:-1253.13,0,-1208.87:1002:492:500:17918:17425:492,500 1/1:-2352.51,-228.276,0:774:3:771:27245:68 . 0/1:-963.292,0,-934.232:793:387:399:13833:13552 0/1:-818.442,0,-884.705:683:355:325:11834:12612:355,325 0/1:-1113.78,0,-1009.85:851:408:439:15808:14615 . . 1/1:-2341.77,-228.181,0:759:0:758:27048:0:0,758 0/1:-666.901,0,-134.863:339:82:255:8840:2706:82,255 0/1:-404.95,0,-402.742:341:170:170:5847:5813 1/1:-2654.78,-253.166,0:842:0:841:30590:0 1/1:-1152.94,-110.779,0:369:0:368:13264:0:0,368 1/1:-3345.51,-323.585,0:1102:3:1097:38691:85:3,1097 0/1:-1116.96,0,-880.527:853:380:466:15815:13143 0/1:-1296.57,0,-988.633:950:425:518:18204:14649:425,518 0/1:-667.507,0,-619.463:534:260:273:9528:8993 0/1:-1214.77,0,-1102.52:983:474:506:17375:16145 0/1:-570.718,0,-839.347:573:331:238:8528:11633 1/1:-1283.28,-126.287,0:427:1:423:14763:15 1/1:-1957.29,-187.106,0:640:2:638:22742:59 1/1:-2035.29,-196.874,0:654:0:654:23426:0 0/1:-776.539,0,-868.692:675:353:317:11290:12319 . 0/1:-1131.28,0,-856.059:805:358:443:15885:12697 +chr1 228505727 . C T 800.87 . AB=0.204023;ABP=267.805;AC=1;AF=0.5;AN=2;AO=71;CIGAR=1X;DP=348;DPB=348;DPRA=0;EPP=28.7315;EPPR=43.107;GTI=0;LEN=1;MEANALT=2;MQM=41.9718;MQMR=41.978;NS=1;NUMALT=1;ODDS=184.408;PAIRED=0;PAIREDR=0.003663;PAO=0;PQA=0;PQR=0;PRO=0;QA=2538;QR=9585;RO=273;RPL=34;RPP=3.28556;RPPR=8.80885;RPR=37;RUN=1;SAF=33;SAP=3.7749;SAR=38;SF=21;SRF=116;SRP=16.3812;SRR=157;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-116.64,0,-731.725:348:273:71:2538:9585:273,71 . . . . . . . . . . . . . . . +chr1 228505739 . G A 9141.22 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=647;CIGAR=1X;DP=9620;DPB=649;DPRA=0;EPP=94.3833;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.8145;MQMR=42;NS=1;NUMALT=1;ODDS=888.705;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=24130;QR=28;RO=2;RPL=282;RPP=26.1313;RPPR=7.35324;RPR=365;RUN=1;SAF=283;SAP=25.0304;SAR=364;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,33,34,36;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-2080.67,-192.71,0:649:2:647:24130:28:2,647 0/1:-372.285,0,-323.717:267:125:142:5254:4649 . 0/1:-807.866,0,-833.681:647:324:320:11677:11837:324,320 0/1:-1078.15,0,-1120.47:863:437:425:15665:15883 . . . 0/1:-633.483,0,-806.934:565:308:256:9319:11245 0/1:-662.894,0,-891.288:614:340:272:9838:12418:340,272 . 0/1:-842.559,0,-1084.78:777:421:355:12501:15172 . . . 0/1:-879.539,0,-932.281:728:370:356:12778:13354 . . . . 0/1:-1014.15,0,-936.522:770:371:398:14493:13458:371,398 0/1:-167.104,0,-672.272:335:248:87:3082:8873:248,87 0/1:-400.625,0,-470.753:349:184:163:5854:6610 . 1/1:-1234.79,-117.402,0:390:0:390:14264:0:0,390 . . . . . . . 1/1:-1957.68,-184.742,0:626:1:624:22787:38 0/1:-870.567,0,-762.186:641:306:335:12298:11049 0/1:-813.525,0,-832.258:644:322:321:11689:11817 . 0/1:-1037.35,0,-842.74:755:346:408:14701:12369 +chr1 228509427 . A G 12758.97 . AB=0;ABP=0;AC=44;AF=1;AN=64;AO=610;CIGAR=1X;DP=22460;DPB=610;DPRA=0;EPP=10.5428;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.959;MQMR=0;NS=1;NUMALT=1;ODDS=850.245;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=21575;QR=0;RO=0;RPL=293;RPP=5.06074;RPPR=0;RPR=317;RUN=1;SAF=315;SAP=4.43422;SAR=295;SF=0,1,2,3,4,5,6,8,9,10,11,12,13,15,16,17,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1882.74,-183.628,0:610:0:610:21575:0:0,610 1/1:-679.633,-65.9256,0:219:0:219:7795:0 1/1:-2414.25,-246.845,0:825:0:820:27715:0 0/1:-845.456,0,-908.089:711:362:346:12142:12870:362,346 0/1:-1254.67,0,-1335.3:1040:527:510:17954:18953 0/1:-1221.24,0,-1240.76:992:494:495:17428:17687:494,495 1/1:-1662.31,-162.556,0:541:0:540:19034:0:0,540 . 0/1:-713.134,0,-782.612:608:314:293:10316:11108 0/1:-715.231,0,-953.156:675:371:303:10503:13282:371,303 0/1:-925.341,0,-968.038:764:387:377:13261:13790:387,377 0/1:-889.021,0,-860.629:743:361:378:12738:12415 0/1:-1404.06,0,-1337.85:1112:539:570:19998:19218:539,570 1/1:-1971.56,-198.485,0:670:2:666:22601:30 . 0/1:-942.862,0,-1068.77:813:421:389:13623:15160 0/1:-1024.74,0,-1025.17:823:410:412:14664:14657:410,412 0/1:-938.811,0,-1121.49:821:439:381:13609:15715 . . 1/1:-2897.39,-282.121,0:943:1:941:33336:16:1,941 0/1:-562.129,0,-160.248:305:81:223:7469:2883:81,223 0/1:-309.885,0,-356.899:275:143:132:4482:5056 1/1:-2934.94,-282.24,0:954:2:951:33750:52 1/1:-1073.34,-104.156,0:347:0:346:12297:0:0,346 1/1:-3020.3,-303.223,0:1018:1:1016:34691:32:1,1016 0/1:-1092.99,0,-819.293:819:362:455:15361:12269 0/1:-928.881,0,-993.089:806:410:393:13458:14188:410,393 0/1:-597.116,0,-565.134:494:241:253:8540:8163 0/1:-1063.43,0,-1221.45:967:498:463:15509:17375 0/1:-832.708,0,-627.307:590:257:333:11568:9243 1/1:-1097.19,-109.246,0:373:2:371:12582:32 1/1:-1956.42,-194.766,0:648:0:647:22478:0 1/1:-1669.73,-162.646,0:551:1:549:19141:32 0/1:-773.99,0,-833.493:648:326:321:11124:11815 . 0/1:-808.607,0,-1026.97:755:405:345:11849:14388 +chr1 228520880 . C T 5646.89 . AB=0.518405;ABP=3.96948;AC=18;AF=0.5;AN=30;AO=169;CIGAR=1X;DP=5204;DPB=326;DPRA=0;EPP=5.90131;EPPR=31.0181;GTI=0;LEN=1;MEANALT=1;MQM=41.6272;MQMR=41.4395;NS=1;NUMALT=1;ODDS=853.821;PAIRED=0.994083;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6069;QR=5677;RO=157;RPL=50;RPP=64.1841;RPPR=68.8599;RPR=119;RUN=1;SAF=88;SAP=3.6399;SAR=81;SF=2,5,6,10,12,13,17,20,23,25,27,29,30,31,33;SRF=93;SRP=14.6422;SRR=64;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-426.627,0,-388.604:326:157:169:6069:5677 . . 0/1:-550.811,0,-395.901:373:161:212:7669:5857:161,212 1/1:-720.833,-68.3338,0:227:0:227:8362:0:0,227 . . . 0/1:-365.855,0,-447.367:317:172:145:5353:6269:172,145 . 0/1:-724.501,0,-516.713:490:211:275:10115:7722:211,275 1/1:-966.303,-89.0091,0:317:3:313:11282:69 . . . 0/1:-511.274,0,-493.691:389:191:198:7289:7043 . . 0/1:-464.167,0,-430.328:348:168:180:6579:6173:168,180 . . 0/1:-637.764,0,-445.681:418:180:238:8864:6600 . 1/1:-1464.09,-139.082,0:467:1:466:16935:15:1,466 . 0/1:-427.531,0,-573.845:394:218:176:6302:7996:218,176 . 0/1:-524.279,0,-564.349:436:223:211:7571:8084 0/1:-384.982,0,-300.628:266:118:147:5371:4392 0/1:-217.654,0,-207.452:172:85:87:3108:2980 . 0/1:-390.764,0,-292.612:264:117:147:5437:4288 . . . +chr1 228520973 . C G 7168.48 . AB=0.489362;ABP=3.42611;AC=18;AF=0.5;AN=30;AO=207;CIGAR=1X;DP=6568;DPB=423;DPRA=0;EPP=3.10471;EPPR=12.7163;GTI=0;LEN=1;MEANALT=2;MQM=41.9227;MQMR=41.4;NS=1;NUMALT=1;ODDS=1170.68;PAIRED=0.980676;PAIREDR=0.990698;PAO=0;PQA=0;PQR=0;PRO=0;QA=7413;QR=7814;RO=215;RPL=95;RPP=6.04197;RPPR=14.0091;RPR=112;RUN=1;SAF=116;SAP=9.56668;SAR=91;SF=2,5,6,10,12,13,17,20,23,25,27,29,30,31,33;SRF=124;SRP=14.0091;SRR=91;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-516.598,0,-545.554:423:215:207:7413:7814 . . 0/1:-649.443,0,-494.642:449:200:249:9095:7257:200,249 1/1:-860.472,-82.1812,0:274:0:273:9938:0:0,273 . . . 0/1:-496.568,0,-475.246:381:185:195:7082:6792:185,195 . 0/1:-834.283,0,-688.618:601:277:324:11727:10103:277,324 1/1:-1383.99,-129.338,0:453:3:449:16134:85 . . . 0/1:-596.507,0,-695.216:509:267:241:8676:9787 . . 0/1:-537.297,0,-690.571:477:261:215:7863:9657:261,215 . . 0/1:-714.057,0,-607.808:511:239:272:10020:8798 . 1/1:-1804.85,-175.199,0:583:0:582:20853:0:0,582 . 0/1:-512.307,0,-579.008:430:224:206:7458:8169:224,206 . 0/1:-641.103,0,-728.322:560:293:264:9427:10356 0/1:-489.158,0,-339.126:322:138:184:6750:5023 0/1:-340.349,0,-249.111:237:102:134:4742:3681 . 0/1:-513.527,0,-417.915:358:163:194:7160:6058 . . . +chr1 228522483 . C T 2366.76 . AB=0.537778;ABP=5.79944;AC=3;AF=0.5;AN=6;AO=121;CIGAR=1X;DP=575;DPB=225;DPRA=0;EPP=8.19671;EPPR=16.1867;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.7864;NS=1;NUMALT=1;ODDS=550.315;PAIRED=0.991736;PAIREDR=0.990291;PAO=0;PQA=0;PQR=0;PRO=0;QA=4335;QR=3694;RO=103;RPL=34;RPP=53.4208;RPPR=25.9689;RPR=87;RUN=1;SAF=80;SAP=30.3062;SAR=41;SF=32,33,34;SRF=72;SRP=38.4496;SRR=31;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-309.131,0,-253.14:225:103:121:4335:3694 0/1:-273.154,0,-202.841:195:85:109:3805:3003 0/1:-174.574,0,-215.379:155:83:72:2543:3011 . . +chr1 228523005 . TGGGGGT TGGGGGGT 329.63 . AB=0;ABP=0;AC=10;AF=1;AN=12;AO=23;CIGAR=1M1I6M;DP=157;DPB=40.2857;DPRA=0;EPP=7.63648;EPPR=0;GTI=0;LEN=1;MEANALT=4;MQM=41.1739;MQMR=0;NS=1;NUMALT=1;ODDS=53.1255;PAIRED=0.913043;PAIREDR=0;PAO=6;PQA=195;PQR=195;PRO=6;QA=670;QR=0;RO=0;RPL=23;RPP=52.9542;RPPR=0;RPR=0;RUN=1;SAF=8;SAP=7.63648;SAR=15;SF=2,13,23,28,30,31;SRF=0;SRP=0;SRR=0;TYPE=ins;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:GL:DP:RO:AO:QA:QR . . 1/1:-59.1969,-14.1484,0:31:0:23:670:0 . . . . . . . . . . 1/1:-57.7781,-8.42884,0:34:0:20:658:0 . . . . . . . . . 1/1:-96.0226,-22.5772,0:47:0:35:1088:0 . . . . 0/1:-8.54891,0,-5.67436:17:6:7:224:189 . 0/1:-11.6159,0,-4.75609:19:4:6:194:114 1/1:-16.0044,-2.40824,0:9:0:6:182:0 . . . . . +chr1 228523011 . T G 43.49 . AB=0.258065;ABP=18.771;AC=1;AF=0.5;AN=2;AO=8;CIGAR=1X;DP=31;DPB=31;DPRA=0;EPP=12.7819;EPPR=14.4341;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.3478;NS=1;NUMALT=1;ODDS=10.014;PAIRED=1;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=262;QR=703;RO=23;RPL=8;RPP=20.3821;RPPR=52.9542;RPR=0;RUN=1;SAF=1;SAP=12.7819;SAR=7;SF=17;SRF=6;SRP=14.4341;SRR=17;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12401460;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_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=0.0110;AF_male=0.0023;AF_female=0.0029;AF_raw=0.0003;AF_afr=0.0110;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0112;non_neuro_AF_popmax=0.0137;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-14.2025,0,-52.4736:31:23:8:262:703 . . . . . . . . . . . . . . . . . . . +chr1 228523448 . G A 9434.94 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=316;CIGAR=1X;DP=324;DPB=324;DPRA=0;EPP=38.6334;EPPR=3.44459;GTI=0;LEN=1;MEANALT=3;MQM=41.5222;MQMR=42;NS=1;NUMALT=1;ODDS=395.888;PAIRED=0.993671;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=11334;QR=174;RO=5;RPL=107;RPP=74.504;RPPR=13.8677;RPR=209;RUN=1;SAF=201;SAP=53.8337;SAR=115;SF=13;SRF=2;SRP=3.44459;SRR=3;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-960.991,-81.2257,0:324:5:316:11334:174 . . . . . . . . . . . . . . . . . . . . . . . +chr1 228523618 . G A 4047.89 . AB=0.511111;ABP=3.10681;AC=26;AF=0.5;AN=40;AO=46;CIGAR=1X;DP=4730;DPB=90;DPRA=0;EPP=4.70971;EPPR=7.94546;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=237.498;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1700;QR=1652;RO=44;RPL=38;RPP=45.4956;RPPR=60.0608;RPR=8;RUN=1;SAF=16;SAP=12.2627;SAR=30;SF=1,2,5,6,10,12,13,16,17,20,21,23,25,26,27,28,29,30,31,33;SRF=18;SRP=6.16881;SRR=26;TYPE=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:GL:DP:RO:AO:QA:QR:AD . 0/1:-120.692,0,-116.081:90:44:46:1700:1652 1/1:-708.102,-68.3338,0:228:0:227:8192:0 . . 0/1:-369.046,0,-398.548:299:154:144:5286:5627:154,144 1/1:-582.127,-54.7875,0:182:0:182:6719:0:0,182 . . . 0/1:-352.564,0,-276.056:246:111:134:4944:4045:111,134 . 0/1:-479.942,0,-459.627:364:179:185:6799:6557:179,185 1/1:-736.843,-71.6451,0:239:0:238:8514:0 . . 0/1:-424.907,0,-284.742:272:113:157:5858:4225:113,157 0/1:-399.194,0,-328.763:283:130:151:5584:4763 . . 0/1:-335.662,0,-347.92:271:134:133:4813:4939:134,133 0/1:-117.393,0,-130.085:99:52:47:1707:1848:52,47 . 1/1:-766.292,-71.3441,0:237:0:237:8857:0 . 1/1:-1050.41,-100.544,0:334:0:334:12103:0:0,334 0/1:-334.739,0,-335.163:277:136:140:4875:4802 0/1:-337.548,0,-343.456:273:134:139:4828:4905:134,139 0/1:-224.577,0,-193.826:169:82:86:3181:2808 0/1:-501.744,0,-436.24:374:178:196:7101:6330 0/1:-250.76,0,-237.19:192:94:98:3558:3409 1/1:-376.988,-32.0294,0:129:2:126:4412:73 . 0/1:-263.494,0,-174.041:172:72:99:3636:2610 . . . +chr1 228524961 . C A 4863.89 . AB=0.493197;ABP=3.12848;AC=18;AF=0.5;AN=30;AO=145;CIGAR=1X;DP=5499;DPB=294;DPRA=0;EPP=3.38469;EPPR=18.2423;GTI=0;LEN=1;MEANALT=2;MQM=40.8207;MQMR=40.5255;NS=1;NUMALT=1;ODDS=587.664;PAIRED=0.951724;PAIREDR=0.934307;PAO=0;PQA=0;PQR=0;PRO=0;QA=4562;QR=4068;RO=137;RPL=46;RPP=45.077;RPPR=27.1184;RPR=99;RUN=1;SAF=83;SAP=9.61457;SAR=62;SF=2,5,6,10,12,13,17,20,23,25,27,29,30,31,33;SRF=69;SRP=3.02615;SRR=68;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-305.896,0,-266.046:294:137:145:4562:4068 . . 0/1:-517.643,0,-504.25:458:222:231:7548:7448:222,231 1/1:-767.448,-82.2536,0:287:2:279:8852:26:2,279 . . . 0/1:-366.181,0,-404.777:373:190:176:5491:5938:190,176 . 0/1:-619.802,0,-592.562:551:263:278:9096:8751:263,278 1/1:-792.994,-91.2121,0:311:0:303:9184:0 . . . 0/1:-303.979,0,-364.092:321:170:143:4575:5303 . . 0/1:-549.909,0,-586.254:494:234:253:8077:8450:234,253 . . 0/1:-317.775,0,-325.251:310:152:151:4709:4819 . 1/1:-1445.42,-159.114,0:574:4:553:16764:97:4,553 . 0/1:-424.938,0,-537.644:469:254:211:6479:7863:254,211 . 0/1:-433.056,0,-396.083:435:204:220:6538:6043 0/1:-197.415,0,-254.527:219:117:97:3017:3671 0/1:-169.536,0,-148.39:153:74:76:2459:2237 . 0/1:-243.434,0,-262.465:250:124:119:3699:3862 . . . +chr1 228525008 . G A 5948.37 . AB=0;ABP=0;AC=15;AF=1;AN=28;AO=527;CIGAR=1X;DP=6818;DPB=535;DPRA=0;EPP=3.2122;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=41.6755;MQMR=42;NS=1;NUMALT=1;ODDS=701.226;PAIRED=0.996205;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=18260;QR=106;RO=4;RPL=206;RPP=57.5031;RPPR=3.0103;RPR=321;RUN=1;SAF=262;SAP=3.04738;SAR=265;SF=0,1,3,4,8,9,11,15,20,21,22,24,32,36;SRF=1;SRP=5.18177;SRR=3;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1575.73,-150.577,0:535:4:527:18260:106:4,527 0/1:-292.311,0,-210.376:202:87:115:4048:3166 . 0/1:-698.422,0,-701.379:566:277:289:10017:10076:277,289 0/1:-777.387,0,-1094.81:760:430:325:11530:15346 . . . 0/1:-545.452,0,-683.857:497:265:229:7968:9739 0/1:-590.042,0,-655.526:505:257:245:8491:9333:257,245 . 0/1:-716.062,0,-778.641:636:318:314:10411:11178 . . . 0/1:-701.122,0,-714.135:571:284:285:10078:10291 . . . . 0/1:-739.937,0,-934.041:673:361:308:10857:13234:361,308 0/1:-92.2321,0,-547.161:258:200:58:1936:7202:200,58 0/1:-244.119,0,-356.729:247:140:107:3638:5018 . 0/1:-257.943,0,-355.818:249:140:109:3808:5093:140,109 . . . . . . . 0/1:-569.887,0,-585.571:466:231:235:8131:8419 . . . 0/1:-667.28,0,-917.427:653:363:288:9900:13050 +chr1 228525627 . C A 10258.48 . AB=0.506912;ABP=3.28048;AC=18;AF=0.5;AN=30;AO=330;CIGAR=1X;DP=9693;DPB=651;DPRA=0;EPP=37.1222;EPPR=29.8594;GTI=0;LEN=1;MEANALT=1;MQM=41.797;MQMR=41.5576;NS=1;NUMALT=1;ODDS=1779;PAIRED=1;PAIREDR=0.971963;PAO=0;PQA=0;PQR=0;PRO=0;QA=11581;QR=11406;RO=321;RPL=120;RPP=56.3101;RPPR=86.3583;RPR=210;RUN=1;SAF=189;SAP=18.1711;SAR=141;SF=2,5,6,10,12,13,17,20,23,25,27,29,30,31,33;SRF=182;SRP=15.5183;SRR=139;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-810.626,0,-792.623:651:321:330:11581:11406 . . 0/1:-708.335,0,-823.552:613:322:287:10322:11608:322,287 1/1:-1578.77,-150.066,0:509:1:508:18191:32:1,508 . . . 0/1:-670.057,0,-508.9:481:214:266:9454:7523:214,266 . 0/1:-1080.21,0,-1132.98:893:452:441:15565:16148:452,441 1/1:-1986.38,-197.644,0:674:3:666:22888:42 . . . 0/1:-815.341,0,-922.858:689:360:326:11781:13018 . . 0/1:-849.691,0,-936.792:720:375:343:12279:13311:375,343 . . 0/1:-907.693,0,-873.053:711:348:362:12946:12534 . 1/1:-2530.26,-238.554,0:845:7:833:29329:162:7,833 . 0/1:-794.234,0,-803.618:656:324:331:11399:11572:324,331 . 0/1:-1066.59,0,-909.558:820:379:435:15184:13327 0/1:-761.873,0,-538.439:530:223:305:10616:8045 0/1:-495.253,0,-522.31:413:213:199:7128:7444 . 0/1:-629.119,0,-611.9:488:241:247:8930:8738 . . . +chr1 228525823 . C T 3694.37 . AB=0.463127;ABP=7.01375;AC=1;AF=0.5;AN=2;AO=157;CIGAR=1X;DP=339;DPB=339;DPRA=0;EPP=8.0033;EPPR=5.34881;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.989;NS=1;NUMALT=1;ODDS=850.66;PAIRED=1;PAIREDR=0.994505;PAO=0;PQA=0;PQR=0;PRO=0;QA=5569;QR=6307;RO=182;RPL=101;RPP=31.0181;RPPR=22.1002;RPR=56;RUN=1;SAF=63;SAP=16.3019;SAR=94;SF=14;SRF=75;SRP=15.2278;SRR=107;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-381.439,0,-447.673:339:182:157:5569:6307 . . . . . . . . . . . . . . . . . . . . . . +chr1 228526011 . C T 715.17 . AB=0;ABP=0;AC=15;AF=1;AN=26;AO=57;CIGAR=1X;DP=661;DPB=57;DPRA=0;EPP=6.09608;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=83.6239;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2163;QR=0;RO=0;RPL=30;RPP=3.35316;RPPR=0;RPR=27;RUN=1;SAF=15;SAP=30.7823;SAR=42;SF=0,1,3,4,8,11,15,20,21,22,24,32,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-187.334,-17.1587,0:57:0:57:2163:0:0,57 0/1:-29.5664,0,-31.8987:23:12:11:418:442 . 0/1:-61.8383,0,-56.4318:48:23:24:875:819:23,24 0/1:-112.684,0,-76.6853:74:32:42:1553:1143 . . . 0/1:-40.287,0,-81.0611:48:30:18:628:1095 . . 0/1:-144.663,0,-114.067:108:50:57:2037:1673 . . . 0/1:-76.0685,0,-48.9475:50:21:29:1059:732 . . . . 0/1:-68.2409,0,-72.7272:60:31:29:1023:1065:31,29 0/1:-16.806,0,-66.495:33:24:9:303:873:24,9 0/1:-49.8383,0,-25.279:31:11:20:677:393 . 0/1:-33.3613,0,-30.5445:25:12:13:468:432:12,13 . . . . . . . 1/1:-120.819,-11.4391,0:39:0:38:1396:0 . . . 0/1:-82.1783,0,-83.6772:65:33:32:1171:1181 +chr1 228526619 . G A 669.54 . AB=0.183007;ABP=136.549;AC=2;AF=0.5;AN=4;AO=28;CIGAR=1X;DP=267;DPB=153;DPRA=0;EPP=5.80219;EPPR=15.6743;GTI=0;LEN=1;MEANALT=1;MQM=41.9286;MQMR=41.68;NS=1;NUMALT=1;ODDS=37.1395;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=955;QR=4511;RO=125;RPL=9;RPP=10.7656;RPPR=4.41741;RPR=19;RUN=1;SAF=10;SAP=7.97367;SAR=18;SF=21,22;SRF=75;SRP=13.8677;SRR=50;TYPE=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.G17150A:p.S5717N,OBSCN:NM_052843:exon69:c.G17150A:p.S5717N,OBSCN:NM_001271223:exon80:c.G20021A:p.S6674N;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376194851;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.014;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.012;Polyphen2_HDIV_rankscore=0.151;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.016;Polyphen2_HVAR_rankscore=0.166;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.454;LRT_pred=D;MutationTaster_score=0.948;MutationTaster_converted_rankscore=0.265;MutationTaster_pred=N;MutationAssessor_score=0.685;MutationAssessor_score_rankscore=0.165;MutationAssessor_pred=N;FATHMM_score=0.03;FATHMM_converted_rankscore=0.622;FATHMM_pred=T;PROVEAN_score=-1.58;PROVEAN_converted_rankscore=0.410;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.064;MetaSVM_score=-0.997;MetaSVM_rankscore=0.308;MetaSVM_pred=T;MetaLR_score=0.104;MetaLR_rankscore=0.383;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.323;M-CAP_pred=T;REVEL_score=0.071;REVEL_rankscore=0.212;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.667;CADD_raw_rankscore=0.498;CADD_phred=23.2;DANN_score=0.986;DANN_rankscore=0.428;fathmm-MKL_coding_score=0.529;fathmm-MKL_coding_rankscore=0.290;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.436;Eigen-PC-raw=-0.277;GenoCanyon_score=0.947;GenoCanyon_score_rankscore=0.277;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=0.419;phyloP100way_vertebrate_rankscore=0.208;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=0.058;phastCons100way_vertebrate_rankscore=0.215;phastCons20way_mammalian=0.990;phastCons20way_mammalian_rankscore=0.544;SiPhy_29way_logOdds=5.974;SiPhy_29way_logOdds_rankscore=0.185;Interpro_domain=Dbl_homology_(DH)_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=0.0034;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0008;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0008;AF=0.0002;AF_popmax=0.0004;AF_male=0;AF_female=0.0005;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0004;AF_fin=0.0003;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=0.0002264;Kaviar_AC=35;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\x3d95.684945;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-37.6408,0,-342.729:153:125:28:955:4511:125,28 0/1:-124.682,0,-159.684:114:60:54:1880:2238 . . . . . . . . . . . . . . +chr1 228526665 . T C 6011.73 . AB=0.553719;ABP=6.04318;AC=26;AF=0.5;AN=40;AO=67;CIGAR=1X;DP=7100;DPB=121;DPRA=0;EPP=8.4876;EPPR=34.5369;GTI=0;LEN=1;MEANALT=1;MQM=41.6716;MQMR=41.1852;NS=1;NUMALT=1;ODDS=279.626;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2452;QR=1954;RO=54;RPL=34;RPP=3.04271;RPPR=4.45795;RPR=33;RUN=1;SAF=39;SAP=6.93191;SAR=28;SF=1,2,5,6,10,12,13,16,17,20,21,23,25,26,27,28,29,30,31,33;SRF=23;SRP=5.5839;SRR=31;TYPE=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:GL:DP:RO:AO:QA:QR:AD . 0/1:-176.008,0,-131.421:121:54:67:2452:1954 1/1:-943.628,-95.433,0:322:1:321:10945:15 . . 0/1:-536.055,0,-589.221:447:229:218:7764:8361:229,218 1/1:-765.623,-75.2956,0:257:1:255:8891:19:1,255 . . . 0/1:-483.973,0,-436.421:367:175:192:6915:6335:175,192 . 0/1:-738.022,0,-620.981:552:253:296:10618:9227:253,296 1/1:-1058.56,-101.6,0:362:2:358:12326:77 . . 0/1:-427.382,0,-569.443:400:217:181:6337:8005:217,181 0/1:-426.006,0,-541.92:386:204:179:6262:7607 . . 0/1:-503.947,0,-601.297:444:234:207:7424:8503:234,207 0/1:-206.643,0,-145.738:141:61:78:2883:2164:61,78 . 1/1:-1262.63,-123.422,0:410:0:410:14631:0 . 1/1:-1639.17,-164.362,0:546:0:546:19067:0:0,546 0/1:-493.383,0,-544.321:449:228:217:7302:7866 0/1:-562.881,0,-501.389:438:208:226:8025:7303:208,226 0/1:-216.032,0,-342.695:231:136:95:3302:4763 0/1:-537.153,0,-696.945:519:280:236:8005:9841 0/1:-392.869,0,-249.804:265:108:155:5466:3795 1/1:-571.927,-56.5936,0:188:0:188:6603:0 . 0/1:-322.91,0,-306.79:255:123:129:4610:4476 . . . +chr1 228526742 . CCACACACACACACACACACACACACACACACACACGTCCAT CCACACACACACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACACACACGTCCAT 289.28 . 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4;AF_eas=0.3202;AF_nfe=0.1031;AF_fin=0.2075;AF_asj=0.1045;AF_oth=0.1306;non_topmed_AF_popmax=0.3161;non_neuro_AF_popmax=0.3202;non_cancer_AF_popmax=.;controls_AF_popmax=0.3211;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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs780118525;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0392;ExAC_nontcga_AFR=0.0822;ExAC_nontcga_AMR=0.0208;ExAC_nontcga_EAS=0.0481;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.0625;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0006727;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs778045898;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0648;ExAC_nontcga_AFR=0.0342;ExAC_nontcga_AMR=0.1042;ExAC_nontcga_EAS=0.0385;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0813;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=0.125;AF=0.0863;AF_popmax=0.1614;AF_male=0.0878;AF_female=0.0843;AF_raw=0.0856;AF_afr=0.0794;AF_sas=.;AF_amr=0.1614;AF_eas=0.0318;AF_nfe=0.0912;AF_fin=0.0833;AF_asj=0.1306;A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GT:GL:DP:RO:AO:QA:QR:AD 1/1:-21.4885,-13.8474,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:44:0:11,.,.,.,.:278,.,.,.,.:0:0,11 . . 0/4:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-5.09023,.,.,.,.,.,.:43:7:.,.,.,20,.:.,.,.,583,.:256:7,20 . 4/5:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-17.4322,.,.,.,.,0,-48.7092:60:5:.,.,.,24,11:.,.,.,699,343:183:5,24,11 5/1:-41.8499,-19.832,-13.1253,.,.,.,.,.,.,.,.,.,.,.,.,-29.0945,0,.,.,.,-24.1933:42:1:16,.,.,.,10:417,.,.,.,293:37:1,10,16 . . 0/4:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-22.6867,.,.,.,.,.,.:53:11:.,.,.,13,.:.,.,.,424,.:387:11,13 . . 4/5:.,.,.,.,.,.,.,.,.,.,.,.,.,.,-9.38865,.,.,.,.,0,-37.7543:69:7:.,.,.,22,11:.,.,.,624,306:260:7,22,11 . . . 0/2:.,.,.,.,.,-25.2256,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:45:11:.,23,.,.,.:.,747,.,.,.:407:11,23 . . . 1/1:-45.5841,-26.1896,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:43:0:21,.,.,.,.:544,.,.,.,.:0:0,21 2/3:-18.2434,.,.,-2.72174,.,-8.5083,-8.23399,.,0,-15.2239,.,.,.,.,.,.,.,.,.,.,.:23:3:.,8,4,.,.:.,212,138,.,.:103:3,8,4 . . 5/1:.,.,-22.2799,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,-6.93984:25:0:6,.,.,.,14:130,.,.,.,336:0:0,14,6 1/1:-75.0085,-24.1675,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:65:1:35,.,.,.,.:898,.,.,.,.:37:1,35 . 0/1:.,.,-57.302,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:72:23:20,.,.,.,.:486,.,.,.,.:835:23,20 . . . 2/2:.,.,.,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:30:1:.,18,.,.,.:.,465,.,.,.:32 . . . . . +chr1 228527758 . G C 3734.28 . AB=0.471125;ABP=5.39298;AC=1;AF=0.5;AN=2;AO=155;CIGAR=1X;DP=329;DPB=329;DPRA=0;EPP=7.05905;EPPR=43.7913;GTI=0;LEN=1;MEANALT=2;MQM=41.9613;MQMR=41.896;NS=1;NUMALT=1;ODDS=859.851;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5559;QR=6236;RO=173;RPL=95;RPP=20.1719;RPPR=28.4278;RPR=60;RUN=1;SAF=68;SAP=8.06773;SAR=87;SF=6;SRF=75;SRP=9.65024;SRR=98;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-383.207,0,-440.67:329:173:155:5559:6236:173,155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228528412 . G A 2868.37 . AB=0.437126;ABP=8.74455;AC=18;AF=0.5;AN=30;AO=73;CIGAR=1X;DP=3016;DPB=167;DPRA=0;EPP=3.27802;EPPR=5.83555;GTI=0;LEN=1;MEANALT=2;MQM=41.8904;MQMR=41.5699;NS=1;NUMALT=1;ODDS=320.36;PAIRED=1;PAIREDR=0.967742;PAO=0;PQA=0;PQR=0;PRO=0;QA=2248;QR=3324;RO=93;RPL=29;RPP=9.70319;RPPR=31.613;RPR=44;RUN=1;SAF=31;SAP=6.60959;SAR=42;SF=2,5,6,10,12,13,17,20,23,25,27,29,30,31,33;SRF=46;SRP=3.03365;SRR=47;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-147.002,0,-238.177:167:93:73:2248:3324 . . 0/1:-253.744,0,-288.828:226:115:111:3699:4109:115,111 1/1:-449.341,-46.0576,0:154:0:153:5148:0:0,153 . . . 0/1:-221.7,0,-254.483:204:104:97:3244:3634:104,97 . 0/1:-304.395,0,-289.544:250:116:132:4355:4194:116,132 1/1:-623.21,-64.9066,0:227:2:222:7164:28 . . . 0/1:-187.108,0,-216.354:172:87:82:2727:3084 . . 0/1:-264.216,0,-352.014:252:136:116:3899:4922:136,116 . . 0/1:-196.057,0,-263.226:188:102:85:2899:3706 . 1/1:-755.529,-76.2938,0:270:3:263:8702:42:3,263 . 0/1:-195.598,0,-259.8:200:106:91:2913:3674:106,91 . 0/1:-374.659,0,-359.559:313:146:164:5348:5233 0/1:-178.239,0,-148.711:142:61:80:2524:2216 0/1:-126.094,0,-144.106:116:57:58:1837:2055 . 0/1:-162.384,0,-157.524:135:66:69:2318:2276 . . . +chr1 228528563 . C G 6195.54 . AB=0.554688;ABP=6.33537;AC=26;AF=0.5;AN=40;AO=71;CIGAR=1X;DP=6997;DPB=128;DPRA=0;EPP=8.17902;EPPR=16.763;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9649;NS=1;NUMALT=1;ODDS=308.497;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2612;QR=2102;RO=57;RPL=48;RPP=22.1254;RPPR=19.8106;RPR=23;RUN=1;SAF=33;SAP=3.7749;SAR=38;SF=1,2,5,6,10,12,13,16,17,20,21,23,25,26,27,28,29,30,31,33;SRF=34;SRP=7.61992;SRR=23;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-187.926,0,-143.917:128:57:71:2612:2102 1/1:-1074.3,-96.5662,0:348:3:345:12541:91 . . 0/1:-556.419,0,-495.205:408:196:212:7865:7141:196,212 1/1:-903.759,-86.0946,0:286:0:286:10523:0:0,286 . . . 0/1:-443.934,0,-487.331:368:193:175:6447:7005:193,175 . 0/1:-723.675,0,-692.435:555:272:283:10330:9910:272,283 1/1:-1077.44,-104.068,0:353:1:349:12492:15 . . 0/1:-396.077,0,-405.64:306:155:151:5651:5740:155,151 0/1:-548.136,0,-519.381:418:205:213:7792:7530 . . 0/1:-504.972,0,-579.946:427:223:203:7434:8158:223,203 0/1:-208.327,0,-166.737:151:68:82:2923:2438:68,82 . 1/1:-1374.15,-129.744,0:433:0:431:15938:0 . 1/1:-1375.4,-134.259,0:450:0:446:15902:0:0,446 0/1:-604.02,0,-437.422:425:186:238:8452:6523 0/1:-411.994,0,-520.721:373:206:167:6050:7294:206,167 0/1:-343.939,0,-254.292:240:104:136:4806:3752 0/1:-662.847,0,-669.092:545:270:272:9515:9618 0/1:-369.124,0,-356.73:289:148:141:5265:5128 1/1:-518.297,-48.8731,0:167:1:166:6015:14 . 0/1:-389.949,0,-432.242:327:170:157:5633:6134 . . . +chr1 228529129 . C A 1811.19 . AB=0.557143;ABP=4.99565;AC=8;AF=0.5;AN=16;AO=39;CIGAR=1X;DP=1088;DPB=70;DPRA=0;EPP=5.73856;EPPR=3.64073;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.871;NS=1;NUMALT=1;ODDS=155.403;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1409;QR=1119;RO=31;RPL=12;RPP=15.538;RPPR=23.254;RPR=27;RUN=1;SAF=24;SAP=7.52028;SAR=15;SF=1,2,16,21,23,26,28,31;SRF=22;SRP=14.8483;SRR=9;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-101.552,0,-76.557:70:31:39:1409:1119 0/1:-244.222,0,-202.138:190:90:99:3584:3182 . . . . . . . . . . . . . 0/1:-172.931,0,-156.815:136:68:68:2487:2307:68,68 . . . . 0/1:-127.495,0,-56.8406:77:29:48:1732:904:29,48 . 0/1:-309.987,0,-184.625:196:78:118:4311:2825 . . 0/1:-288.88,0,-211.15:220:100:120:4131:3179 . 0/1:-139.158,0,-104.841:105:48:56:1990:1597 . . 0/1:-151.265,0,-71.8689:94:33:61:2115:1155 . . . . . +chr1 228543800 . C T 3010.77 . AB=0.47541;ABP=3.65106;AC=8;AF=0.5;AN=16;AO=58;CIGAR=1X;DP=2014;DPB=122;DPRA=0;EPP=10.3484;EPPR=9.66043;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=305.967;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2132;QR=2344;RO=64;RPL=10;RPP=57.0725;RPPR=68.6973;RPR=48;RUN=1;SAF=42;SAP=28.3192;SAR=16;SF=1,2,16,21,23,26,28,31;SRF=49;SRP=42.2325;SRR=15;TYPE=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:GL:DP:RO:AO:QA:QR:AD . 0/1:-148.095,0,-167.338:122:64:58:2132:2344 0/1:-391.283,0,-382.295:309:155:153:5583:5453 . . . . . . . . . . . . . 0/1:-442.18,0,-444.594:339:172:167:6287:6290:172,167 . . . . 0/1:-190.608,0,-146.917:137:63:73:2718:2149:63,73 . 0/1:-378.982,0,-470.859:334:185:149:5545:6562 . . 0/1:-538.631,0,-447.077:395:185:209:7623:6498 . 0/1:-265.12,0,-232.255:194:93:101:3735:3331 . . 0/1:-260.468,0,-201.833:184:85:99:3673:2948 . . . . . +chr1 228547901 . C T 2420.59 . AB=0.405229;ABP=14.9463;AC=30;AF=0.5;AN=50;AO=62;CIGAR=1X;DP=4082;DPB=153;DPRA=0;EPP=9.87495;EPPR=14.688;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.5222;NS=1;NUMALT=1;ODDS=323.741;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2252;QR=3189;RO=90;RPL=31;RPP=3.0103;RPPR=3.39634;RPR=31;RUN=1;SAF=39;SAP=11.9764;SAR=23;SF=3,4,5,7,8,9,10,11,12,14,15,16,17,18,19,21,22,26,27,28,29,30,34,35,36;SRF=57;SRP=16.9077;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-149.469,0,-230.854:153:90:62:2252:3189:90,62 0/1:-268.271,0,-272.465:213:108:105:3840:3866 0/1:-233.992,0,-197.187:173:83:90:3303:2861:83,90 . 1/1:-736.974,-71.0431,0:237:0:236:8571:0 0/1:-123.821,0,-129.326:102:51:49:1776:1831 0/1:-172.759,0,-179.002:137:70:67:2469:2532:70,67 0/1:-168.867,0,-200.75:153:79:72:2467:2837:79,72 0/1:-240.1,0,-285.626:218:115:102:3526:4026 0/1:-278.492,0,-215.886:195:88:107:3925:3148:88,107 . 1/1:-367.29,-34.4232,0:119:1:118:4256:14 0/1:-238.946,0,-205.007:181:85:95:3423:2987 0/1:-221.256,0,-131.757:142:57:83:3040:1996:57,83 0/1:-207.185,0,-259.327:186:102:84:3095:3617 1/1:-423.814,-41.8432,0:140:0:139:4908:0 1/1:-538.846,-52.4163,0:181:1:177:6228:13 . 0/1:-74.6097,0,-194.536:113:78:35:1245:2611:78,35 0/1:-148.354,0,-112.766:107:50:57:2077:1655 . . . 0/1:-250.538,0,-287.625:229:121:108:3675:4086 0/1:-248.974,0,-296.76:224:117:106:3650:4177:117,106 0/1:-140.472,0,-143.507:122:62:59:2036:2087 0/1:-314.883,0,-349.264:279:142:136:4611:5003 0/1:-136.207,0,-162.083:121:63:58:1981:2277 . . . 0/1:-143.656,0,-133.919:109:52:57:2043:1912 1/1:-298.466,-26.2213,0:99:1:98:3480:37 0/1:-194.562,0,-171.443:149:70:79:2764:2485 +chr1 228548197 . G A 3502.81 . AB=0.516779;ABP=3.37464;AC=8;AF=0.5;AN=16;AO=77;CIGAR=1X;DP=2324;DPB=149;DPRA=0;EPP=37.5565;EPPR=30.1537;GTI=0;LEN=1;MEANALT=1;MQM=41.7532;MQMR=41.7361;NS=1;NUMALT=1;ODDS=391.6;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2862;QR=2644;RO=72;RPL=19;RPP=45.9039;RPPR=46.5604;RPR=58;RUN=1;SAF=47;SAP=11.1604;SAR=30;SF=1,2,16,21,23,26,28,31;SRF=48;SRP=20.3821;SRR=24;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-203.709,0,-185.393:149:72:77:2862:2644 0/1:-383.666,0,-397.404:312:157:154:5511:5660 . . . . . . . . . . . . . 0/1:-367.648,0,-409.774:303:158:144:5299:5766:158,144 . . . . 0/1:-233.697,0,-208.632:179:87:91:3339:3001:87,91 . 0/1:-603.665,0,-518.562:433:203:230:8471:7471 . . 0/1:-545.943,0,-563.898:459:226:229:7844:8039 . 0/1:-265.363,0,-313.988:240:126:113:3895:4430 . . 0/1:-325.118,0,-292.132:249:116:131:4592:4210 . . . . . +chr1 228550344 . G A 3442.42 . AB=0.549587;ABP=8.17876;AC=1;AF=0.5;AN=2;AO=133;CIGAR=1X;DP=242;DPB=242;DPRA=0;EPP=5.76954;EPPR=3.1896;GTI=0;LEN=1;MEANALT=1;MQM=41.985;MQMR=41.9817;NS=1;NUMALT=1;ODDS=610.552;PAIRED=1;PAIREDR=0.990826;PAO=0;PQA=0;PQR=0;PRO=0;QA=4909;QR=3980;RO=109;RPL=72;RPP=4.98585;RPPR=6.37708;RPR=61;RUN=1;SAF=71;SAP=4.33278;SAR=62;SF=9;SRF=59;SRP=4.62396;SRR=50;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-352.132,0,-272.831:242:109:133:4909:3980:109,133 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228550426 . C T 992.21 . AB=0.375;ABP=7.35324;AC=8;AF=0.5;AN=16;AO=12;CIGAR=1X;DP=741;DPB=32;DPRA=0;EPP=14.5915;EPPR=13.8677;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=41.4072;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=389;QR=752;RO=20;RPL=6;RPP=3.0103;RPPR=4.74748;RPR=6;RUN=1;SAF=4;SAP=5.9056;SAR=8;SF=1,2,16,21,23,26,28,31;SRF=7;SRP=6.91895;SRR=13;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-24.6194,0,-55.9498:32:20:12:389:752 0/1:-141.452,0,-124.929:108:51:56:1993:1803 . . . . . . . . . . . . . 0/1:-152.823,0,-134.796:117:56:60:2169:1946:56,60 . . . . 0/1:-57.7384,0,-49.5237:48:23:25:823:727:23,25 . 0/1:-138.058,0,-201.598:135:77:58:2050:2783 . . 0/1:-156.867,0,-199.968:154:84:70:2320:2817 . 0/1:-108.394,0,-68.8277:75:29:44:1491:1039 . . 0/1:-97.5158,0,-76.7768:72:32:40:1360:1126 . . . . . +chr1 228550429 . C T 822.61 . AB=0.454545;ABP=3.99733;AC=4;AF=0.5;AN=8;AO=25;CIGAR=1X;DP=331;DPB=55;DPRA=0;EPP=13.5202;EPPR=31.9633;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=125.79;PAIRED=1;PAIREDR=0.966667;PAO=0;PQA=0;PQR=0;PRO=0;QA=902;QR=1077;RO=30;RPL=20;RPP=22.5536;RPPR=5.61607;RPR=5;RUN=1;SAF=13;SAP=3.09716;SAR=12;SF=24,32,33,34;SRF=13;SRP=4.16842;SRR=17;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-62.1969,0,-77.2573:55:30:25:902:1077:30,25 . . . . . . . 0/1:-127.962,0,-125.195:100:49:51:1817:1783 0/1:-62.1957,0,-157.01:88:60:28:1016:2107 0/1:-119.023,0,-110.724:88:43:45:1673:1575 . . +chr1 228553245 . C T 4218.21 . AB=0.518634;ABP=3.98139;AC=1;AF=0.5;AN=2;AO=167;CIGAR=1X;DP=322;DPB=322;DPRA=0;EPP=4.06353;EPPR=3.13639;GTI=0;LEN=1;MEANALT=1;MQM=41.9641;MQMR=41.9226;NS=1;NUMALT=1;ODDS=897.836;PAIRED=1;PAIREDR=0.974194;PAO=0;PQA=0;PQR=0;PRO=0;QA=6110;QR=5706;RO=155;RPL=103;RPP=22.7876;RPPR=14.7923;RPR=64;RUN=1;SAF=72;SAP=9.8888;SAR=95;SF=36;SRF=77;SRP=3.02431;SRR=78;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon82:c.C19047T:p.I6349I,OBSCN:NM_001271223:exon93:c.C21918T:p.I7306I;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-431.675,0,-398.147:322:155:167:6110:5706 +chr1 228556788 . C T 3969.40 . AB=0.524064;ABP=3.95088;AC=35;AF=0.5;AN=54;AO=98;CIGAR=1X;DP=5848;DPB=187;DPRA=0;EPP=3.09893;EPPR=3.22989;GTI=0;LEN=1;MEANALT=1;MQM=41.9592;MQMR=41.7865;NS=1;NUMALT=1;ODDS=516.095;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3628;QR=3349;RO=89;RPL=33;RPP=25.7;RPPR=15.9171;RPR=65;RUN=1;SAF=53;SAP=4.4284;SAR=45;SF=0,1,3,4,5,7,8,9,11,14,15,16,17,18,19,20,21,22,26,27,28,29,30,32,34,35,36;SRF=45;SRP=3.0347;SRR=44;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-257.643,0,-232.002:187:89:98:3628:3349:89,98 0/1:-102.749,0,-68.3221:65:27:38:1412:1015 . 0/1:-252.846,0,-250.979:190:93:96:3613:3572:93,96 0/1:-401.53,0,-353.372:285:134:150:5650:5089 0/1:-350.986,0,-390.117:280:146:134:5039:5502:146,134 . 1/1:-980.958,-89.6138,0:303:1:302:11406:16 0/1:-244.518,0,-255.375:188:96:92:3485:3610 0/1:-333.11,0,-231.013:213:91:122:4609:3434:91,122 . 1/1:-941.073,-91.2121,0:305:0:303:10916:0 . . 1/1:-590.879,-55.3895,0:184:0:184:6846:0 1/1:-635.022,-54.8505,0:206:2:203:7420:78 0/1:-258.832,0,-314.146:221:118:103:3796:4422:118,103 0/1:-481.504,0,-445.77:353:170:182:6822:6390 1/1:-487.357,-38.8169,0:156:3:153:5745:91 1/1:-819.811,-76.1606,0:253:0:253:9511:0 1/1:-933.603,-86.3956,0:288:0:287:10818:0:0,287 0/1:-55.5946,0,-193.779:98:71:27:992:2580:71,27 0/1:-118.809,0,-134.904:98:52:46:1708:1897 . . . 0/1:-355.281,0,-429.543:312:165:145:5210:6063 0/1:-348.204,0,-341.054:272:132:138:4961:4900:132,138 0/1:-193.179,0,-201.258:155:77:78:2794:2876 0/1:-489.399,0,-407.958:353:160:193:6923:5944 0/1:-215.114,0,-193.986:154:73:81:3021:2780 . 0/1:-344.651,0,-241.481:220:94:126:4753:3564 . 0/1:-240.206,0,-207.101:169:80:89:3369:2981 1/1:-316.114,-28.8989,0:96:0:96:3659:0 0/1:-233.388,0,-417.548:244:151:93:3555:5693 +chr1 228557681 . G A 1389.57 . AB=0.402685;ABP=15.2667;AC=1;AF=0.5;AN=2;AO=60;CIGAR=1X;DP=149;DPB=149;DPRA=0;EPP=3.15506;EPPR=3.63429;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=319.96;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2220;QR=3182;RO=87;RPL=31;RPP=3.15506;RPPR=3.23494;RPR=29;RUN=1;SAF=40;SAP=17.4868;SAR=20;SF=32;SRF=52;SRP=10.2236;SRR=35;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon91:c.G20006A:p.R6669H,OBSCN:NM_001271223:exon102:c.G22877A:p.R7626H;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs373638525;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=0.989;Polyphen2_HVAR_rankscore=0.769;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.797;MutationTaster_converted_rankscore=0.355;MutationTaster_pred=D;MutationAssessor_score=1.03;MutationAssessor_score_rankscore=0.257;MutationAssessor_pred=L;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.663;FATHMM_pred=T;PROVEAN_score=-2.86;PROVEAN_converted_rankscore=0.601;PROVEAN_pred=D;VEST3_score=0.272;VEST3_rankscore=0.378;MetaSVM_score=-0.362;MetaSVM_rankscore=0.732;MetaSVM_pred=T;MetaLR_score=0.351;MetaLR_rankscore=0.715;MetaLR_pred=T;M-CAP_score=0.092;M-CAP_rankscore=0.759;M-CAP_pred=D;REVEL_score=0.376;REVEL_rankscore=0.698;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.200;CADD_raw_rankscore=0.945;CADD_phred=34;DANN_score=0.996;DANN_rankscore=0.761;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_rankscore=0.609;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.501;Eigen-PC-raw=0.494;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=4.78;GERP++_RS_rankscore=0.605;phyloP100way_vertebrate=6.194;phyloP100way_vertebrate_rankscore=0.718;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.784;phastCons20way_mammalian_rankscore=0.331;SiPhy_29way_logOdds=16.174;SiPhy_29way_logOdds_rankscore=0.816;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=0.0001;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=9.578e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.201e-05;AF_raw=9.549e-05;AF_afr=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.499e-05;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.365e-05;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=Name\x3dENSR00000938274|Enhancer,ENSR00000938301|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1138729|N/A|ZNF263|JASPAR;ORegmiRNA=.;nCER95=Name\x3d95.569818;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-147.661,0,-232.047:149:87:60:2220:3182 . . . . +chr1 228558892 . C T 3935.85 . AB=0.440789;ABP=7.63896;AC=8;AF=0.5;AN=16;AO=67;CIGAR=1X;DP=2719;DPB=152;DPRA=0;EPP=4.59839;EPPR=3.94093;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9762;NS=1;NUMALT=1;ODDS=353.968;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2395;QR=3087;RO=84;RPL=44;RPP=17.3031;RPPR=29.4816;RPR=23;RUN=1;SAF=28;SAP=6.93191;SAR=39;SF=1,2,16,21,23,26,28,31;SRF=27;SRP=26.2761;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-162.343,0,-223.225:152:84:67:2395:3087 0/1:-615.252,0,-536.392:450:214:236:8695:7729 . . . . . . . . . . . . . 0/1:-471.564,0,-521.507:389:202:187:6811:7388:202,187 . . . . 0/1:-266.749,0,-242.476:205:101:104:3797:3489:101,104 . 0/1:-581.372,0,-593.782:461:233:228:8317:8445 . . 0/1:-568.085,0,-658.323:508:265:243:8322:9350 . 0/1:-288.097,0,-351.799:271:146:125:4255:5013 . . 0/1:-356.87,0,-359.108:283:140:142:5092:5107 . . . . . +chr1 228558952 . T G 2013.41 . AB=0.494382;ABP=3.0591;AC=1;AF=0.5;AN=2;AO=88;CIGAR=1X;DP=178;DPB=178;DPRA=0;EPP=17.2236;EPPR=10.0615;GTI=0;LEN=1;MEANALT=2;MQM=41.9318;MQMR=41.3146;NS=1;NUMALT=1;ODDS=463.605;PAIRED=0.977273;PAIREDR=0.977528;PAO=0;PQA=0;PQR=0;PRO=0;QA=3135;QR=3175;RO=89;RPL=71;RPP=74.965;RPPR=40.1205;RPR=17;RUN=1;SAF=27;SAP=31.5356;SAR=61;SF=2;SRF=31;SRP=20.7969;SRR=58;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . 0/1:-219.727,0,-218.729:178:89:88:3135:3175 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228559167 . C A 15.21 . AB=0.4;ABP=3.44459;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=3.0103;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.47068;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=73;QR=98;RO=3;RPL=2;RPP=7.35324;RPPR=3.73412;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=25;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.C20688A:p.A6896A,OBSCN:NM_001271223:exon105:c.C23559A:p.A7853A;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=Name\x3dOREG1185534|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.21657,0,-7.50682:5:3:2:73:98:3,2 . . . . . . . . . . . +chr1 228559430 . G A 4622.82 . AB=0.528736;ABP=5.50625;AC=1;AF=0.5;AN=2;AO=184;CIGAR=1X;DP=348;DPB=348;DPRA=0;EPP=7.73089;EPPR=6.86033;GTI=0;LEN=1;MEANALT=2;MQM=40.9402;MQMR=41.7055;NS=1;NUMALT=1;ODDS=915.202;PAIRED=0.994565;PAIREDR=0.969325;PAO=0;PQA=0;PQR=0;PRO=0;QA=6761;QR=5927;RO=163;RPL=68;RPP=30.2009;RPPR=34.9962;RPR=116;RUN=1;SAF=88;SAP=3.76559;SAR=96;SF=7;SRF=78;SRP=3.66307;SRR=85;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-472.9,0,-408.402:348:163:184:6761:5927 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228559450 . G A 5733.68 . AB=0.538462;ABP=8.5225;AC=1;AF=0.5;AN=2;AO=231;CIGAR=1X;DP=429;DPB=429;DPRA=0;EPP=3.0197;EPPR=6.59988;GTI=0;LEN=1;MEANALT=3;MQM=41.1732;MQMR=41.8571;NS=1;NUMALT=1;ODDS=1067.47;PAIRED=0.969697;PAIREDR=0.979592;PAO=0;PQA=0;PQR=0;PRO=0;QA=8318;QR=6918;RO=196;RPL=80;RPP=50.3973;RPPR=30.7077;RPR=151;RUN=1;SAF=103;SAP=8.8855;SAR=128;SF=25;SRF=94;SRP=3.71935;SRR=102;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-586.626,0,-474.581:429:196:231:8318:6918:196,231 . . . . . . . . . . . +chr1 228559967 . C T 1722.75 . AB=0.54918;ABP=5.57335;AC=8;AF=0.5;AN=16;AO=67;CIGAR=1X;DP=1253;DPB=122;DPRA=0;EPP=5.63551;EPPR=3.99733;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6545;NS=1;NUMALT=1;ODDS=290.667;PAIRED=1;PAIREDR=0.981818;PAO=0;PQA=0;PQR=0;PRO=0;QA=2463;QR=1958;RO=55;RPL=34;RPP=3.04271;RPPR=4.94488;RPR=33;RUN=1;SAF=39;SAP=6.93191;SAR=28;SF=8,15,18,19,21,22,29,30;SRF=30;SRP=3.99733;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-176.809,0,-132.927:122:55:67:2463:1958 . . . . . . 0/1:-239.544,0,-266.83:204:105:98:3537:3770 . . 0/1:-150.589,0,-128.858:110:51:59:2110:1857 0/1:-216.581,0,-260.329:189:101:87:3150:3650 . 0/1:-25.3167,0,-175.007:80:65:15:567:2274:65,15 0/1:-83.7611,0,-94.9555:72:38:34:1212:1341 . . . . . . 0/1:-403.71,0,-420.783:338:173:164:5880:6001 0/1:-147.864,0,-205.163:138:79:59:2183:2827 . . . . . . +chr1 228559994 . C T 3862.94 . AB=0.491525;ABP=3.12071;AC=46;AF=0.5;AN=66;AO=87;CIGAR=1X;DP=6466;DPB=177;DPRA=0;EPP=12.0207;EPPR=3.87889;GTI=0;LEN=1;MEANALT=1;MQM=41.954;MQMR=42;NS=1;NUMALT=1;ODDS=482.828;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3125;QR=3247;RO=90;RPL=40;RPP=4.23331;RPPR=12.6613;RPR=47;RUN=1;SAF=55;SAP=16.2139;SAR=32;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,14,15,16,17,18,19,20,21,22,23,24,26,28,29,30,31,32,33,34,36;SRF=57;SRP=16.9077;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-218.47,0,-229.487:177:90:87:3125:3247:90,87 1/1:-290.035,-27.6948,0:92:0:92:3347:0 1/1:-616.636,-60.507,0:202:0:201:7116:0 0/1:-256.712,0,-243.491:205:97:107:3724:3512:97,107 0/1:-344.031,0,-259.344:245:108:135:4847:3818 0/1:-302.004,0,-237.054:208:94:114:4221:3445:94,114 0/1:-216.931,0,-241.192:187:97:90:3140:3416:97,90 1/1:-867.586,-79.606,0:280:3:274:10077:43 0/1:-234.664,0,-152.941:158:67:90:3255:2343 0/1:-225.46,0,-206.222:168:80:87:3193:2953:80,87 0/1:-231.953,0,-323.157:214:122:92:3425:4455:122,92 1/1:-763.861,-72.7723,0:259:2:255:8846:52 0/1:-362.98,0,-295.191:266:123:142:5119:4328:123,142 . 1/1:-465.546,-43.6494,0:145:0:145:5373:0 1/1:-725.17,-66.919,0:233:1:232:8511:33 1/1:-602.003,-57.1957,0:192:0:190:6989:0:0,190 0/1:-318.669,0,-332.213:256:130:124:4576:4695 1/1:-346.996,-34.0164,0:114:0:113:4024:0 1/1:-673.944,-64.4204,0:216:0:214:7783:0 1/1:-910.826,-87.9008,0:292:0:292:10590:0:0,292 0/1:-171.317,0,-56.2802:93:28:65:2287:961:28,65 0/1:-99.6672,0,-107.673:84:44:40:1434:1535 0/1:-299.516,0,-296.401:235:118:115:4272:4224 0/1:-110.464,0,-103.028:82:40:42:1556:1466:40,42 . 1/1:-803.757,-77.8862,0:270:2:266:9328:31 . 1/1:-398.707,-39.2855,0:139:1:134:4611:15 0/1:-448.004,0,-451.055:372:186:186:6495:6484 0/1:-185.201,0,-207.877:154:82:72:2670:2928 0/1:-196.212,0,-193.799:164:79:81:2821:2773 0/1:-163.444,0,-343.436:197:127:70:2600:4637 0/1:-197.792,0,-192.152:157:76:80:2824:2745 1/1:-586.034,-56.2926,0:190:0:187:6778:0 . 0/1:-341.295,0,-199.895:220:90:130:4717:3067 +chr1 228560139 . A G 10378.42 . AB=0;ABP=0;AC=70;AF=1;AN=74;AO=330;CIGAR=1X;DP=13427;DPB=330;DPRA=0;EPP=74.182;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8364;MQMR=0;NS=1;NUMALT=1;ODDS=462.082;PAIRED=0.993939;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=12064;QR=0;RO=0;RPL=105;RPP=97.7655;RPPR=0;RPR=225;RUN=1;SAF=162;SAP=3.24719;SAR=168;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1044.08,-99.3399,0:330:0:330:12064:0:0,330 1/1:-427.264,-40.037,0:133:0:133:4935:0 1/1:-1324.06,-128.841,0:428:0:428:15351:0 1/1:-1268.64,-121.917,0:405:0:405:14677:0:0,405 1/1:-1616.81,-153.224,0:509:0:509:18722:0 1/1:-1442.09,-138.173,0:459:0:459:16756:0:0,459 1/1:-996.103,-93.6203,0:312:0:311:11493:0:0,311 1/1:-1652.88,-160.148,0:532:0:532:19205:0 1/1:-909.485,-87.2987,0:290:0:290:10520:0 1/1:-900.092,-84.8905,0:283:0:282:10414:0:0,282 1/1:-1304.02,-124.927,0:415:0:415:15046:0:0,415 1/1:-1187.49,-113.709,0:390:1:388:13790:38 1/1:-1618.84,-157.439,0:523:0:523:18894:0:0,523 0/1:-470.149,0,-398.904:357:168:188:6668:5880 0/1:-280.34,0,-416.082:270:158:112:4171:5741 1/1:-1297.73,-125.251,0:425:1:422:15147:39 1/1:-1087.5,-102.252,0:345:1:343:12620:15:1,343 1/1:-1332.97,-127.417,0:428:1:426:15450:14 1/1:-675.963,-66.5276,0:222:0:221:7813:0 1/1:-1252.63,-120.111,0:399:0:399:14464:0 1/1:-1442.42,-137.571,0:457:0:457:16712:0:0,457 1/1:-506.994,-49.971,0:166:0:166:5833:0:0,166 1/1:-475.5,-47.2617,0:158:0:157:5513:0 0/1:-621.69,0,-419.835:406:172:234:8625:6263 1/1:-539.016,-51.1751,0:170:0:170:6235:0:0,170 1/1:-1824.25,-176.705,0:588:0:587:21091:0:0,587 1/1:-1594.8,-158.612,0:541:1:537:18607:38 1/1:-1444.57,-139.076,0:463:0:462:16671:0:0,462 1/1:-797.035,-79.773,0:265:0:265:9217:0 1/1:-1785.14,-174.898,0:582:0:581:20678:0 1/1:-897.717,-86.6966,0:288:0:288:10340:0 1/1:-730.581,-71.3441,0:237:0:237:8434:0 1/1:-1285.87,-125.228,0:416:0:416:14824:0 0/1:-407.059,0,-426.823:327:165:162:5850:6060 1/1:-960.393,-91.5131,0:305:0:304:11110:0 1/1:-576.01,-54.4864,0:182:0:181:6646:0 1/1:-1300.31,-126.132,0:421:0:419:15041:0 +chr1 228560426 . A C 6606.05 . AB=0.502773;ABP=3.04642;AC=1;AF=0.5;AN=2;AO=272;CIGAR=1X;DP=541;DPB=541;DPRA=0;EPP=19.9031;EPPR=11.3073;GTI=0;LEN=1;MEANALT=2;MQM=40.9743;MQMR=41.7799;NS=1;NUMALT=1;ODDS=1521.1;PAIRED=0.974265;PAIREDR=0.973881;PAO=0;PQA=0;PQR=0;PRO=0;QA=9845;QR=9875;RO=268;RPL=87;RPP=79.6824;RPPR=60.1816;RPR=185;RUN=1;SAF=172;SAP=44.396;SAR=100;SF=15;SRF=164;SRP=32.1793;SRR=104;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A21947C:p.K7316T,OBSCN:NM_001271223:exon105:c.A24818C:p.K8273T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs755659827;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.379;SIFT_converted_rankscore=0.112;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.571;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=0.995;MutationTaster_converted_rankscore=0.239;MutationTaster_pred=N;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-0.25;FATHMM_converted_rankscore=0.670;FATHMM_pred=T;PROVEAN_score=-2.15;PROVEAN_converted_rankscore=0.486;PROVEAN_pred=N;VEST3_score=0.378;VEST3_rankscore=0.524;MetaSVM_score=-0.968;MetaSVM_rankscore=0.377;MetaSVM_pred=T;MetaLR_score=0.135;MetaLR_rankscore=0.450;MetaLR_pred=T;M-CAP_score=0.147;M-CAP_rankscore=0.830;M-CAP_pred=D;REVEL_score=0.260;REVEL_rankscore=0.577;MutPred_score=0.465;MutPred_rankscore=0.536;CADD_raw=5.647;CADD_raw_rankscore=0.770;CADD_phred=26.6;DANN_score=0.977;DANN_rankscore=0.351;fathmm-MKL_coding_score=0.661;fathmm-MKL_coding_rankscore=0.327;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.150;Eigen-PC-raw=0.249;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=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=2.363;phyloP100way_vertebrate_rankscore=0.436;phyloP20way_mammalian=1.140;phyloP20way_mammalian_rankscore=0.893;phastCons100way_vertebrate=0.986;phastCons100way_vertebrate_rankscore=0.359;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=8.873;SiPhy_29way_logOdds_rankscore=0.343;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.072e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.892e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3d96.066110;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-681.699,0,-689.548:541:268:272:9845:9875 . . . . . . . . . . . . . . . . . . . . . +chr1 228560592 . A G 7201.35 . AB=0.49011;ABP=3.39687;AC=2;AF=0.5;AN=4;AO=223;CIGAR=1X;DP=1297;DPB=455;DPRA=0;EPP=24.5205;EPPR=13.8302;GTI=0;LEN=1;MEANALT=1;MQM=40.2332;MQMR=40.5733;NS=1;NUMALT=1;ODDS=1185.82;PAIRED=0.991031;PAIREDR=0.969828;PAO=0;PQA=0;PQR=0;PRO=0;QA=7817;QR=7795;RO=232;RPL=77;RPP=49.3707;RPPR=75.4926;RPR=146;RUN=1;SAF=108;SAP=3.48744;SAR=115;SF=8,29;SRF=121;SRP=3.94628;SRR=111;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon94:c.A22113G:p.S7371S,OBSCN:NM_001271223:exon105:c.A24984G:p.S8328S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370699889;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0;AF=9.565e-05;AF_popmax=6.488e-05;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=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=.;non_neuro_AF_popmax=7.351e-05;non_cancer_AF_popmax=.;controls_AF_popmax=.;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=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-531.269,0,-530.877:455:232:223:7817:7795 . . . . . . . . . . . . . . . . . . . . 0/1:-939.769,0,-984.204:842:417:422:13961:14333 . . . . . . . +chr1 228560700 . T C 10415.27 . AB=0;ABP=0;AC=59;AF=1;AN=70;AO=446;CIGAR=1X;DP=16424;DPB=446;DPRA=0;EPP=13.3126;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.2623;MQMR=0;NS=1;NUMALT=1;ODDS=622.892;PAIRED=0.973094;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=15814;QR=0;RO=0;RPL=294;RPP=101.184;RPPR=0;RPR=152;RUN=1;SAF=180;SAP=39.0197;SAR=266;SF=0,1,2,3,4,5,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1364.01,-134.259,0:446:0:446:15814:0:0,446 1/1:-511.958,-53.5833,0:178:0:178:6086:0 1/1:-1318.17,-141.785,0:474:0:471:15914:0 1/1:-1444,-144.702,0:486:1:485:17236:16:1,485 1/1:-1862.47,-187.542,0:623:0:623:21873:0 0/1:-680.326,0,-860.177:612:328:282:10185:12095:328,282 . 1/1:-1971.51,-198.981,0:664:0:661:23265:0 1/1:-1275,-128.446,0:432:1:431:15170:16 1/1:-1077.39,-110.779,0:369:0:368:12790:0:0,368 0/1:-506.889,0,-633.244:468:241:223:7814:8942:241,223 1/1:-1549.21,-161.847,0:552:2:545:18238:32 0/1:-790.077,0,-1046.71:751:402:349:12246:14819:402,349 0/1:-568.948,0,-515.055:450:210:239:8136:7517 1/1:-1144.12,-118.606,0:396:0:394:13657:0 1/1:-1634.71,-169.654,0:572:1:567:19652:15 1/1:-1112.72,-111.989,0:377:1:376:13257:15:1,376 0/1:-688.345,0,-794.242:597:301:293:10341:11282 1/1:-981.378,-104.457,0:348:0:347:11879:0 1/1:-1681.81,-168.313,0:577:3:572:20345:65 1/1:-1698.19,-174.898,0:582:0:581:20434:0:0,581 1/1:-608.465,-63.2163,0:212:0:210:7039:0:0,210 1/1:-657.755,-69.5379,0:231:0:231:7634:0 0/1:-821.064,0,-827.926:662:325:337:11985:11918 1/1:-790.734,-84.2884,0:280:0:280:9523:0:0,280 . 1/1:-1536.51,-159.787,0:548:3:544:18224:54 0/1:-710.82,0,-694.709:585:280:304:10425:10076:280,304 1/1:-1011.64,-106.988,0:369:2:366:12451:50 0/1:-841.466,0,-1009.2:787:406:378:12989:14579 0/1:-479.751,0,-502.461:398:194:204:7247:7205 0/1:-447.137,0,-341.098:330:139:190:6307:5105 1/1:-1367.22,-147.505,0:491:0:490:16506:0 0/1:-440.211,0,-380.854:333:152:180:6307:5556 1/1:-1315.02,-137.27,0:458:0:456:15809:0 1/1:-752.944,-79.1229,0:268:1:264:8904:16 1/1:-1492.82,-155.633,0:518:0:517:17843:0 +chr1 228562350 . T C 6435.77 . AB=0.544053;ABP=10.6631;AC=1;AF=0.5;AN=2;AO=247;CIGAR=1X;DP=454;DPB=454;DPRA=0;EPP=3.08942;EPPR=3.52432;GTI=0;LEN=1;MEANALT=1;MQM=41.5061;MQMR=41.8068;NS=1;NUMALT=1;ODDS=1193.58;PAIRED=0.987854;PAIREDR=0.990338;PAO=0;PQA=0;PQR=0;PRO=0;QA=9194;QR=7719;RO=207;RPL=142;RPP=15.0457;RPPR=6.04197;RPR=105;RUN=1;SAF=113;SAP=6.8873;SAR=134;SF=17;SRF=87;SRP=14.4341;SRR=120;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-653.25,0,-527.82:454:207:247:9194:7719 . . . . . . . . . . . . . . . . . . . +chr1 228562438 . G A 1663.05 . AB=0.608696;ABP=14.8118;AC=1;AF=0.5;AN=2;AO=70;CIGAR=1X;DP=115;DPB=115;DPRA=0;EPP=3.50664;EPPR=20.4303;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.5778;NS=1;NUMALT=1;ODDS=226.51;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2494;QR=1664;RO=45;RPL=58;RPP=68.6508;RPPR=16.956;RPR=12;RUN=1;SAF=23;SAP=20.8784;SAR=47;SF=6;SRF=20;SRP=4.21667;SRR=25;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=OBSCN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=OBSCN:NM_001098623:exon97:c.G22648A:p.V7550I,OBSCN:NM_001271223:exon108:c.G25519A:p.V8507I;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143872350;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.624;SIFT_converted_rankscore=0.052;SIFT_pred=T;Polyphen2_HDIV_score=0.029;Polyphen2_HDIV_rankscore=0.185;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=0.090;MutationTaster_pred=N;MutationAssessor_score=0.39;MutationAssessor_score_rankscore=0.122;MutationAssessor_pred=N;FATHMM_score=-1.6;FATHMM_converted_rankscore=0.822;FATHMM_pred=D;PROVEAN_score=-0.42;PROVEAN_converted_rankscore=0.142;PROVEAN_pred=N;VEST3_score=0.028;VEST3_rankscore=0.144;MetaSVM_score=-0.829;MetaSVM_rankscore=0.534;MetaSVM_pred=T;MetaLR_score=0.345;MetaLR_rankscore=0.710;MetaLR_pred=T;M-CAP_score=0.069;M-CAP_rankscore=0.706;M-CAP_pred=D;REVEL_score=0.127;REVEL_rankscore=0.354;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-0.095;CADD_raw_rankscore=0.085;CADD_phred=1.766;DANN_score=0.669;DANN_rankscore=0.079;fathmm-MKL_coding_score=0.038;fathmm-MKL_coding_rankscore=0.090;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.273;Eigen-PC-raw=-1.327;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.420;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=-3.71;GERP++_RS_rankscore=0.041;phyloP100way_vertebrate=-0.783;phyloP100way_vertebrate_rankscore=0.047;phyloP20way_mammalian=-0.232;phyloP20way_mammalian_rankscore=0.094;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.082;phastCons20way_mammalian_rankscore=0.182;SiPhy_29way_logOdds=13.214;SiPhy_29way_logOdds_rankscore=0.591;Interpro_domain=Fibronectin_type_III|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=0.0002;ExAC_nontcga_AFR=0.0004;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=6.986e-05;AF=0.0003;AF_popmax=0.0009;AF_male=0.0003;AF_female=0.0003;AF_raw=0.0003;AF_afr=0.0009;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=0.0009;non_neuro_AF_popmax=0.0009;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;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=Name\x3dOREG1945737|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-182.549,0,-108.733:115:45:70:2494:1664:45,70 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228564747 . G T 731.78 . AB=0.336449;ABP=27.8706;AC=1;AF=0.5;AN=2;AO=36;CIGAR=1X;DP=107;DPB=107;DPRA=0;EPP=6.8707;EPPR=9.09042;GTI=0;LEN=1;MEANALT=2;MQM=41.0556;MQMR=41.9429;NS=1;NUMALT=1;ODDS=168.498;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1346;QR=2505;RO=70;RPL=13;RPP=9.04217;RPPR=9.09042;RPR=23;RUN=1;SAF=21;SAP=5.18177;SAR=15;SF=21;SRF=38;SRP=4.12706;SRR=32;TYPE=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=rs553718655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;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=0.0008;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;ExAC_nontcga_SAS=0.0012;AF=0.0001;AF_popmax=0.0002;AF_male=5.735e-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=0.0003;non_neuro_AF_popmax=0.0002;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-82.4991,0,-185.111:107:70:36:1346:2505:70,36 . . . . . . . . . . . . . . . +chr1 228564884 . G A 5215.92 . AB=0.517647;ABP=3.47014;AC=9;AF=0.5;AN=18;AO=88;CIGAR=1X;DP=3954;DPB=170;DPRA=0;EPP=3.40511;EPPR=3.11623;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=467.235;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3199;QR=3011;RO=82;RPL=61;RPP=31.5356;RPPR=18.2636;RPR=27;RUN=1;SAF=43;SAP=3.109;SAR=45;SF=1,2,12,16,21,23,26,28,31;SRF=41;SRP=3.0103;SRR=41;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-227.404,0,-210.885:170:82:88:3199:3011 0/1:-727.231,0,-767.03:626:312:309:10567:11029 . . . . . . . . . 0/1:-919.665,0,-717.817:673:303:369:12893:10576:303,369 . . . 0/1:-678.057,0,-669.85:553:269:282:9732:9724:269,282 . . . . 0/1:-245.516,0,-236.694:204:99:104:3550:3417:99,104 . 0/1:-678.132,0,-653.09:536:258:277:9666:9371 . . 0/1:-681.432,0,-657.355:587:284:298:9921:9645 . 0/1:-326.091,0,-430.68:324:175:147:4890:6095 . . 0/1:-346.418,0,-318.754:281:135:146:4961:4652 . . . . . +chr1 228565208 . C T 6388.28 . AB=0.521368;ABP=4.86626;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=468;DPB=468;DPRA=0;EPP=23.5147;EPPR=25.3454;GTI=0;LEN=1;MEANALT=1;MQM=41.9262;MQMR=41.9062;NS=1;NUMALT=1;ODDS=1307.37;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9196;QR=8317;RO=224;RPL=94;RPP=30.9191;RPPR=11.735;RPR=150;RUN=1;SAF=142;SAP=17.2495;SAR=102;SF=6;SRF=127;SRP=11.735;SRR=97;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-652.608,0,-579.207:468:224:244:9196:8317:224,244 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 228565209 . G A 4388.69 . AB=0.441624;ABP=14.6723;AC=1;AF=0.5;AN=2;AO=174;CIGAR=1X;DP=394;DPB=394;DPRA=0;EPP=17.4369;EPPR=20.4216;GTI=0;LEN=1;MEANALT=1;MQM=41.977;MQMR=42;NS=1;NUMALT=1;ODDS=1010.53;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6617;QR=8056;RO=220;RPL=64;RPP=29.4174;RPPR=43.4392;RPR=110;RUN=1;SAF=102;SAP=14.2421;SAR=72;SF=35;SRF=119;SRP=6.20829;SRR=101;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-452.31,0,-580.21:394:220:174:6617:8056 . +chr1 228566126 . G T 48.83 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=65;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=30;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=OBSCN;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=0.9948;dbscSNV_RF_SCORE=0.814;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-6.0868,-0.60206,0:2:0:2:65:0 . . . . . . +chr1 229567660 . CGGCGGGGAGC CGGGGGGGGAGC,CGGGCGGGGAGC,CGGGGGGGAGC,CGGCGGGGGAGC 255.44 . AB=0.4;ABP=4.31318;AC=7,7,2,1;AF=0.5;AN=30;AO=6;CIGAR=1M1I2M;DP=504;DPB=17;DPRA=0;EPP=8.80089;EPPR=14.8328;GTI=0;LEN=1;MEANALT=1;MQM=41;MQMR=41.7778;NS=1;NUMALT=1;ODDS=14.8618;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=201;QR=311;RO=9;RPL=6;RPP=16.0391;RPPR=22.5536;RPR=0;RUN=1;SAF=1;SAP=8.80089;SAR=5;SF=1,2,4,6,9,10,12,14,15,16,18,21,22,25,27;SRF=1;SRP=14.8328;SRR=8;TYPE=ins;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201427429;CLNALLELEID=99456;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=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1482;ExAC_nontcga_AFR=0.1074;ExAC_nontcga_AMR=0.1197;ExAC_nontcga_EAS=0.1685;ExAC_nontcga_FIN=0.1135;ExAC_nontcga_NFE=0.1615;ExAC_nontcga_OTH=0.1478;ExAC_nontcga_SAS=0.1497;AF=0.1380;AF_popmax=0.1737;AF_male=0.1408;AF_female=0.1346;AF_raw=0.1407;AF_afr=0.121;AF_sas=.;AF_amr=0.1456;AF_eas=0.1737;AF_nfe=0.1463;AF_fin=0.1205;AF_asj=0.2518;AF_oth=0.1271;non_topmed_AF_popmax=0.1695;non_neuro_AF_popmax=0.1737;non_cancer_AF_popmax=.;controls_AF_popmax=0.1700;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\x3d99.748890;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6673359;CLNALLELEID=99457;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=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0331;ExAC_nontcga_ALL=0.2031;ExAC_nontcga_AFR=0.4574;ExAC_nontcga_AMR=0.2678;ExAC_nontcga_EAS=0.1710;ExAC_nontcga_FIN=0.1170;ExAC_nontcga_NFE=0.1721;ExAC_nontcga_OTH=0.1676;ExAC_nontcga_SAS=0.1750;AF=0.2446;AF_popmax=0.4646;AF_male=0.2505;AF_female=0.2372;AF_raw=0.2463;AF_afr=0.4646;AF_sas=.;AF_amr=0.2767;AF_eas=0.1757;AF_nfe=0.1577;AF_fin=0.1222;AF_asj=0.2902;AF_oth=0.1691;non_topmed_AF_popmax=0.4645;non_neuro_AF_popmax=0.4627;non_cancer_AF_popmax=.;controls_AF_popmax=0.4562;Kaviar_AF=0.0175159;Kaviar_AC=2708;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.218147::0.496191;Heart_Left_Ventricle=Heart_Left_Ventricle::0.200743::0.438217;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.559150;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs398123565;CLNALLELEID=99458;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=0.0036;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0064;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0034;AF_popmax=0.0052;AF_male=0.0034;AF_female=0.0034;AF_raw=0.0034;AF_afr=0.0014;AF_sas=.;AF_amr=0.0048;AF_eas=0;AF_nfe=0.0052;AF_fin=0.0017;AF_asj=0.0035;AF_oth=0.0028;non_topmed_AF_popmax=0.0050;non_neuro_AF_popmax=0.0056;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;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\x3d99.559150;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . 0/2:.,.,.,.,.,-23.1444,.,.,.,.,.,.,.,.,.:15:9:.,6,.,.:.,201,.,.:311 0/2:.,.,.,.,.,-70.1037,.,.,.,.,.,.,.,.,.:39:27:.,11,.,.:.,364,.,.:971 . 0/2:.,.,.,.,.,-63.3056,.,.,.,.,.,.,.,.,.:43:25:.,18,.,.:.,563,.,.:865 . 1/4:-46.9084,-22.5066,-18.8942,.,.,.,.,.,.,.,-25.6484,0,.,.,-22.3371:17:0:9,.,.,8:321,.,.,280:0:0,9,8 . . 0/1:.,.,-30.9728,.,.,.,.,.,.,.,.,.,.,.,.:35:12:13,.,.,.:467,.,.,.:442:12,13 0/3:.,.,.,.,.,.,.,.,.,-38.7828,.,.,.,.,.:31:15:.,.,9,.:.,.,306,.:555:15,9 . 1/3:.,.,-27.1644,.,.,.,.,0,.,-81.018,.,.,.,.,.:45:0:31,.,14,.:1131,.,458,.:0:0,31,14 . 0/2:.,.,.,.,.,-9.50563,.,.,.,.,.,.,.,.,.:34:7:.,27,.,.:.,883,.,.:219 0/2:.,.,.,.,.,-64.5157,.,.,.,.,.,.,.,.,.:46:27:.,19,.,.:.,588,.,.:922 0/1:.,.,-84.4302,.,.,.,.,.,.,.,.,.,.,.,.:47:31:9,.,.,.:321,.,.,.:1118:31,9 . 0/2:.,.,.,.,.,-23.7478,.,.,.,.,.,.,.,.,.:25:10:.,15,.,.:.,493,.,.:354 . . 0/1:.,.,-17.0936,.,.,.,.,.,.,.,.,.,.,.,.:18:7:9,.,.,.:306,.,.,.:251:7,9 0/2:.,.,.,.,.,-33.2705,.,.,.,.,.,.,.,.,.:20:13:.,6,.,.:.,183,.,.:440 . . 0/1:.,.,-43.2892,.,.,.,.,.,.,.,.,.,.,.,.:47:18:24,.,.,.:860,.,.,.:641:18,24 . 0/1:.,.,-44.85,.,.,.,.,.,.,.,.,.,.,.,.:42:18:16,.,.,.:568,.,.,.:633:18,16 . . . . . . . . . +chr1 229567663 . C G 366.68 . AB=0.8;ABP=14.7363;AC=11;AF=0.5;AN=20;AO=12;CIGAR=1X;DP=320;DPB=15;DPRA=0;EPP=14.5915;EPPR=9.52472;GTI=0;LEN=1;MEANALT=1;MQM=41.3333;MQMR=42;NS=1;NUMALT=1;ODDS=2.79905;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=414;QR=109;RO=3;RPL=12;RPP=29.068;RPPR=9.52472;RPR=0;RUN=1;SAF=2;SAP=14.5915;SAR=10;SF=1,2,4,7,13,14,15,18,22,35;SRF=0;SRP=9.52472;SRR=3;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.139377;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs6673359;CLNALLELEID=99457;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=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0331;ExAC_nontcga_ALL=0.2031;ExAC_nontcga_AFR=0.4574;ExAC_nontcga_AMR=0.2678;ExAC_nontcga_EAS=0.1710;ExAC_nontcga_FIN=0.1170;ExAC_nontcga_NFE=0.1721;ExAC_nontcga_OTH=0.1676;ExAC_nontcga_SAS=0.1750;AF=0.2446;AF_popmax=0.4646;AF_male=0.2505;AF_female=0.2372;AF_raw=0.2463;AF_afr=0.4646;AF_sas=.;AF_amr=0.2767;AF_eas=0.1757;AF_nfe=0.1577;AF_fin=0.1222;AF_asj=0.2902;AF_oth=0.1691;non_topmed_AF_popmax=0.4645;non_neuro_AF_popmax=0.4627;non_cancer_AF_popmax=.;controls_AF_popmax=0.4562;Kaviar_AF=0.0175159;Kaviar_AC=2708;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.218147::0.496191;Heart_Left_Ventricle=Heart_Left_Ventricle::0.200743::0.438217;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.559150;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-31.9945,0,-5.3511:15:3:12:414:109 0/1:-33.557,0,-58.5412:37:23:14:511:825 . 0/1:-58.2186,0,-36.1148:41:16:25:879:550 . . 0/1:-96.9811,0,-27.3008:49:13:36:1272:479 . . . . . 0/1:-21.9883,0,-50.9371:33:20:13:373:691 1/1:-98.9323,-10.235,0:34:0:34:1174:0 0/1:-61.1788,0,-48.4903:46:22:24:862:734 . . 0/1:-45.9639,0,-12.7358:24:6:18:603:226 . . . 0/1:-27.456,0,-15.4705:18:7:11:382:233 . . . . . . . . . . . . 0/1:-33.5673,0,-22.713:23:10:13:458:334 . +chr1 229567668 . A G 79.70 . AB=0.3125;ABP=12.7819;AC=1;AF=0.5;AN=2;AO=10;CIGAR=1X;DP=32;DPB=32;DPRA=0;EPP=3.87889;EPPR=28.2783;GTI=0;LEN=1;MEANALT=1;MQM=40.2;MQMR=41.7273;NS=1;NUMALT=1;ODDS=18.3522;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=288;QR=762;RO=22;RPL=10;RPP=24.725;RPPR=50.7827;RPR=0;RUN=1;SAF=4;SAP=3.87889;SAR=6;SF=9;SRF=3;SRP=28.2783;SRR=19;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ACTA1;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=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\x3d99.559150;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-16.18,0,-57.2205:32:22:10:288:762:22,10 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 229568632 . A G 1559.10 . AB=0.568182;ABP=4.78696;AC=20;AF=0.5;AN=34;AO=25;CIGAR=1X;DP=1954;DPB=44;DPRA=0;EPP=3.79203;EPPR=4.03889;GTI=0;LEN=1;MEANALT=1;MQM=40.8;MQMR=41.8421;NS=1;NUMALT=1;ODDS=90.7077;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=875;QR=703;RO=19;RPL=19;RPP=17.6895;RPPR=28.7251;RPR=6;RUN=1;SAF=5;SAP=22.5536;SAR=20;SF=1,4,6,7,9,10,12,13,14,15,16,18,21,22,25,27,35;SRF=6;SRP=8.61041;SRR=13;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-62.8087,0,-48.1041:44:19:25:875:703 . . 0/1:-246.116,0,-219.367:187:89:98:3548:3174 . 1/1:-255.47,-24.3834,0:81:0:81:2973:0:0,81 0/1:-206.93,0,-235.852:177:92:85:3016:3332 . 0/1:-107.673,0,-141.922:99:54:45:1601:1979:54,45 0/1:-115.741,0,-217.393:131:80:51:1798:2966:80,51 . 1/1:-445.993,-43.3483,0:144:0:144:5172:0:0,144 0/1:-193.075,0,-181.802:160:76:83:2807:2661 1/1:-246.364,-24.0824,0:80:0:80:2851:0 0/1:-118.339,0,-141.523:108:56:50:1775:2013 0/1:-197.082,0,-118.275:129:53:75:2724:1820:53,75 . 0/1:-114.684,0,-73.3431:75:32:43:1582:1108 . . 0/1:-74.7815,0,-67.6231:60:29:31:1064:1007:29,31 0/1:-59.9882,0,-68.8893:54:28:26:891:989 . . 0/1:-213.32,0,-289.476:201:112:87:3134:4045:112,87 . 0/1:-201.824,0,-204.034:169:85:84:2943:2964:85,84 . . . . . . . 0/1:-67.1996,0,-72.7078:55:28:27:957:1025 . +chr1 229568637 . C G 1478.59 . AB=0.567568;ABP=4.47751;AC=18;AF=0.5;AN=30;AO=21;CIGAR=1X;DP=1474;DPB=37;DPRA=0;EPP=3.94093;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=73.9002;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=782;QR=580;RO=16;RPL=15;RPP=11.386;RPPR=22.5536;RPR=6;RUN=1;SAF=3;SAP=26.2761;SAR=18;SF=1,4,6,9,10,12,13,14,15,16,18,21,22,25,27;SRF=6;SRP=5.18177;SRR=10;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-56.9948,0,-39.48:37:16:21:782:580 . . 0/1:-233.205,0,-164.354:155:67:88:3228:2433 . 1/1:-218.011,-20.169,0:67:0:67:2516:0:0,67 . . 0/1:-94.8391,0,-121.91:84:46:38:1380:1695:46,38 0/1:-103.055,0,-192.187:115:72:43:1582:2616:72,43 . 1/1:-398.886,-37.3277,0:124:0:124:4611:0:0,124 0/1:-185.59,0,-160.83:138:65:73:2653:2325 1/1:-228.999,-21.6742,0:72:0:72:2651:0 0/1:-112.563,0,-97.068:85:39:44:1594:1407 0/1:-189.752,0,-86.789:105:36:69:2561:1365:36,69 . 0/1:-116.548,0,-54.5583:65:23:42:1570:848 . . 0/1:-67.5208,0,-63.0919:53:26:27:965:930:26,27 0/1:-51.0966,0,-62.9963:46:24:22:774:894 . . 0/1:-206.282,0,-259.07:182:98:82:3003:3626:98,82 . 0/1:-178.893,0,-179.8:146:73:71:2562:2597:73,71 . . . . . . . . . +chr1 236849952 . C T 415.01 . AB=0.538462;ABP=3.34437;AC=5;AF=0.5;AN=8;AO=14;CIGAR=1X;DP=99;DPB=26;DPRA=0;EPP=5.49198;EPPR=5.9056;GTI=0;LEN=1;MEANALT=1;MQM=41.7143;MQMR=42;NS=1;NUMALT=1;ODDS=51.5765;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=446;QR=438;RO=12;RPL=0;RPP=33.4109;RPPR=29.068;RPR=14;RUN=1;SAF=9;SAP=5.49198;SAR=5;SF=12,18,27,35;SRF=8;SRP=5.9056;SRR=4;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-31.62,0,-30.6892:26:12:14:446:438:12,14 . . . . . 0/1:-33.2154,0,-9.6418:18:5:13:438:168 . . . . . . . . 1/1:-121.055,-12.0412,0:40:0:40:1386:0:0,40 . . . . . . . 0/1:-17.9214,0,-21.3018:15:8:7:255:292 . +chr1 236882303 . T C 9438.91 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=298;CIGAR=1X;DP=11452;DPB=298;DPRA=0;EPP=5.37123;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9396;MQMR=0;NS=1;NUMALT=1;ODDS=417.721;PAIRED=0.993289;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10923;QR=0;RO=0;RPL=243;RPP=260.556;RPPR=0;RPR=55;RUN=1;SAF=125;SAP=19.7991;SAR=173;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-947.186,-89.7069,0:298:0:298:10923:0:0,298 1/1:-381.71,-35.8226,0:119:0:119:4404:0 1/1:-994.322,-93.9214,0:313:0:312:11477:0 1/1:-1026.27,-95.6951,0:324:1:322:11872:17:1,322 1/1:-1102.69,-105.963,0:352:0:352:12720:0 1/1:-1277.59,-119.509,0:397:0:397:14751:0:0,397 1/1:-850.084,-80.375,0:268:0:267:9805:0:0,267 1/1:-1378.73,-129.5,0:436:1:434:15925:16 1/1:-795.198,-76.4616,0:254:0:254:9173:0 1/1:-860.147,-80.9771,0:271:0:269:9931:0:0,269 1/1:-872.694,-84.2884,0:281:0:280:10083:0:0,280 1/1:-1261.8,-121.315,0:404:0:403:14533:0 1/1:-1618.27,-153.224,0:510:0:509:18686:0:0,509 1/1:-1155.67,-110.177,0:366:0:366:13345:0 1/1:-823.5,-77.3647,0:257:0:257:9529:0 1/1:-1090.6,-103.554,0:344:0:344:12592:0 1/1:-992.028,-93.6203,0:311:0:311:11460:0:0,311 1/1:-1172.37,-109.575,0:365:0:364:13549:0 1/1:-646.734,-60.507,0:201:0:201:7471:0 1/1:-1183.43,-111.788,0:376:1:375:13702:14 1/1:-1255.75,-119.509,0:398:0:397:14641:0:0,397 1/1:-464.968,-43.6494,0:145:0:145:5353:0:0,145 1/1:-522.341,-49.3689,0:164:0:164:6007:0 1/1:-1184.45,-112.284,0:374:0:373:13752:0 1/1:-488.965,-46.0576,0:154:0:153:5637:0:0,153 1/1:-1508.47,-143.892,0:480:0:478:17424:0:0,478 1/1:-1198.04,-116.749,0:393:1:391:13897:15 1/1:-1331.74,-127.035,0:422:0:422:15381:0:0,422 1/1:-655.224,-61.9736,0:212:1:210:7561:17 1/1:-1393.62,-133.657,0:445:0:444:16079:0 1/1:-765.935,-71.9462,0:241:0:239:8856:0 1/1:-770.987,-71.3599,0:246:1:241:8915:17 1/1:-924.364,-87.5997,0:291:0:291:10704:0 1/1:-952.42,-89.7069,0:300:0:298:10990:0 1/1:-799.822,-75.8596,0:252:0:252:9240:0 1/1:-532.325,-49.67,0:165:0:165:6139:0 1/1:-1027.95,-96.9317,0:323:0:322:11893:0 +chr1 236883421 . C T 3556.23 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=116;CIGAR=1X;DP=4129;DPB=116;DPRA=0;EPP=9.07545;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.5;MQMR=0;NS=1;NUMALT=1;ODDS=165.415;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4413;QR=0;RO=0;RPL=68;RPP=10.4981;RPPR=0;RPR=48;RUN=1;SAF=53;SAP=4.88226;SAR=63;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-377.513,-34.9195,0:116:0:116:4413:0:0,116 1/1:-170.127,-15.6536,0:52:0:52:1967:0 1/1:-357.256,-33.7154,0:112:0:112:4192:0 1/1:-345.89,-31.9092,0:107:0:106:4060:0:0,106 1/1:-337.494,-31.3071,0:104:0:104:3956:0 1/1:-412.361,-38.5318,0:128:0:128:4809:0:0,128 1/1:-258.152,-23.4803,0:78:0:78:2996:0:0,78 1/1:-489.416,-45.4555,0:152:0:151:5705:0 1/1:-251.978,-23.4803,0:78:0:78:2940:0 1/1:-332.283,-30.7051,0:102:0:102:3863:0:0,102 1/1:-352.745,-33.4143,0:111:0:111:4173:0:0,111 1/1:-575.388,-53.8844,0:179:0:179:6682:0 1/1:-518.424,-48.4658,0:161:0:161:6034:0:0,161 1/1:-537.885,-51.1751,0:170:0:170:6295:0 1/1:-314.22,-28.8989,0:96:0:96:3672:0 1/1:-366.274,-33.7154,0:112:0:112:4279:0 1/1:-313.022,-29.1999,0:97:0:97:3640:0:0,97 1/1:-353.643,-32.5112,0:109:0:108:4116:0 1/1:-237.749,-21.9752,0:73:0:73:2785:0 1/1:-337.608,-30.7051,0:102:0:102:3920:0 1/1:-363.961,-33.7154,0:113:0:112:4230:0:0,112 1/1:-213.251,-20.169,0:67:0:67:2461:0:0,67 1/1:-271.152,-25.8886,0:86:0:86:3166:0 1/1:-324.63,-29.802,0:99:0:99:3766:0 1/1:-252.327,-22.8783,0:76:0:76:2925:0:0,76 1/1:-641.271,-59.0019,0:196:0:196:7460:0:0,196 1/1:-430.986,-40.6391,0:135:0:135:5011:0 1/1:-539.957,-50.272,0:167:0:167:6267:0:0,167 1/1:-312.701,-28.8989,0:96:0:96:3617:0 1/1:-589.08,-54.7875,0:182:0:182:6917:0 1/1:-341.752,-31.6082,0:105:0:105:3981:0 1/1:-311.526,-29.5009,0:98:0:98:3654:0 1/1:-324.473,-30.7051,0:103:0:102:3794:0 1/1:-295.801,-27.3937,0:91:0:91:3465:0 1/1:-340.128,-31.6082,0:105:0:105:3954:0 1/1:-230.713,-21.0721,0:70:0:70:2669:0 1/1:-330.7,-30.404,0:101:0:101:3845:0 +chr1 236894647 . G A 1920.37 . AB=0.477477;ABP=3.49937;AC=29;AF=0.5;AN=48;AO=53;CIGAR=1X;DP=3036;DPB=111;DPRA=0;EPP=3.37904;EPPR=3.16006;GTI=0;LEN=1;MEANALT=1;MQM=41.6226;MQMR=42;NS=1;NUMALT=1;ODDS=299.34;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1999;QR=2085;RO=58;RPL=38;RPP=24.6841;RPPR=32.3626;RPR=15;RUN=1;SAF=18;SAP=14.851;SAR=35;SF=0,2,4,5,6,7,8,9,11,12,13,14,16,17,19,20,21,24,25,27,31,32,33,34;SRF=19;SRP=17.986;SRR=39;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-139.473,0,-147.278:111:58:53:1999:2085:58,53 . 0/1:-150.354,0,-130.954:107:50:57:2114:1889 . 0/1:-150.888,0,-189.536:129:70:58:2222:2638 1/1:-456.958,-42.4452,0:141:0:141:5322:0:0,141 1/1:-372.478,-30.964,0:115:1:114:4356:38:1,114 0/1:-242.96,0,-219.941:176:85:91:3425:3154 1/1:-278.977,-25.8886,0:87:0:86:3230:0 0/1:-121.31,0,-145.649:100:54:46:1753:2032:54,46 . 1/1:-505.271,-47.8638,0:160:0:159:5843:0 0/1:-239.49,0,-304.742:207:113:94:3535:4245:113,94 0/1:-223.752,0,-222.961:171:84:87:3193:3176 0/1:-114.395,0,-99.7179:81:39:42:1602:1429 . 0/1:-132.099,0,-142.935:104:53:51:1951:2013:53,51 0/1:-190.799,0,-234.657:160:86:73:2765:3277 . 0/1:-137.041,0,-202.918:129:74:54:2032:2810 0/1:-135.365,0,-195.786:127:74:53:2018:2721:74,53 0/1:-28.9404,0,-122.715:60:45:15:556:1637:45,15 . . 0/1:-43.6291,0,-70.8181:44:26:18:654:968:26,18 0/1:-255.965,0,-318.399:218:119:99:3731:4444:119,99 . 0/1:-263.225,0,-211.363:178:81:97:3667:3062:81,97 . . . 1/1:-251.334,-20.6598,0:81:1:80:2946:39 0/1:-146.434,0,-118.68:102:47:55:2049:1749 0/1:-136.441,0,-175.446:118:65:53:1989:2437 0/1:-189.706,0,-159.623:130:60:70:2643:2300 . . +chr1 236899042 . G A 3767.59 . AB=0.520505;ABP=4.16796;AC=9;AF=0.5;AN=18;AO=165;CIGAR=1X;DP=2843;DPB=317;DPRA=0;EPP=3.65516;EPPR=3.71495;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.8609;NS=1;NUMALT=1;ODDS=809.438;PAIRED=1;PAIREDR=0.993377;PAO=0;PQA=0;PQR=0;PRO=0;QA=5976;QR=5431;RO=151;RPL=144;RPP=202.115;RPPR=173.866;RPR=21;RUN=1;SAF=69;SAP=12.6043;SAR=96;SF=0,4,6,11,12,14,27,33,35;SRF=64;SRP=10.6176;SRR=87;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-423.538,0,-378.261:317:151:165:5976:5431:151,165 . . . 0/1:-409.712,0,-442.141:338:172:166:5901:6252 . 0/1:-346.487,0,-307.936:261:126:135:4907:4447:126,135 . . . . 0/1:-500.727,0,-476.553:403:194:206:7150:6870 0/1:-543.852,0,-650.581:472:252:218:7922:9107:252,218 . 0/1:-288.732,0,-279.732:223:111:112:4101:3981 . . . . . . . . . . . . 0/1:-555.176,0,-439.777:397:180:216:7770:6411:180,216 . . . . . 0/1:-402.395,0,-300.4:281:123:158:5601:4417 . 0/1:-165.008,0,-212.268:151:83:68:2416:2955 . +chr1 236900554 . C T 1579.16 . AB=0.507463;ABP=3.04271;AC=6;AF=0.5;AN=12;AO=34;CIGAR=1X;DP=969;DPB=67;DPRA=0;EPP=28.557;EPPR=22.0271;GTI=0;LEN=1;MEANALT=1;MQM=41.3824;MQMR=42;NS=1;NUMALT=1;ODDS=146.883;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1265;QR=1174;RO=33;RPL=34;RPP=76.8404;RPPR=74.6689;RPR=0;RUN=1;SAF=7;SAP=28.557;SAR=27;SF=1,2,8,13,17,34;SRF=8;SRP=22.0271;SRR=25;TYPE=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:GL:DP:RO:AO:QA:QR . 0/1:-89.5737,0,-82.3235:67:33:34:1265:1174 0/1:-196.857,0,-250.553:178:98:80:2911:3513 . . . . . 0/1:-164.346,0,-225.056:156:86:69:2514:3134 . . . . 0/1:-256.332,0,-287.9:217:113:103:3730:4116 . . . 0/1:-281.046,0,-206.146:194:84:109:3981:3037 . . . . . . . . . . . . . . . . 0/1:-155.752,0,-246.215:157:93:64:2353:3369 . . +chr1 236902594 . C G 6944.79 . AB=0.45283;ABP=8.1317;AC=58;AF=0.5;AN=68;AO=120;CIGAR=1X;DP=9870;DPB=265;DPRA=0;EPP=34.9309;EPPR=61.793;GTI=0;LEN=1;MEANALT=3;MQM=41.9333;MQMR=41.5352;NS=1;NUMALT=1;ODDS=631.447;PAIRED=0.991667;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4180;QR=4963;RO=142;RPL=63;RPP=3.66174;RPPR=3.25497;RPR=57;RUN=1;SAF=66;SAP=5.61607;SAR=54;SF=0,1,2,3,4,5,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,34,35,36;SRF=83;SRP=11.8185;SRR=59;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-284.913,0,-352.847:265:142:120:4180:4963:142,120 1/1:-267.321,-23.4382,0:90:1:89:3155:38 1/1:-756.547,-75.5585,0:251:0:251:8714:0 1/1:-733.439,-71.6451,0:240:0:238:8479:0:0,238 0/1:-424.002,0,-425.728:349:172:176:6093:6129 1/1:-1084.38,-105.662,0:353:0:351:12702:0:0,351 . 0/1:-410.018,0,-414.699:347:172:171:5921:5991 1/1:-702.644,-68.0328,0:226:0:226:8101:0 1/1:-622.66,-62.0122,0:206:0:206:7240:0:0,206 1/1:-809.059,-74.8452,0:261:1:260:9386:39:1,260 0/1:-536.604,0,-536.639:456:230:222:7810:7757 . 1/1:-1041.13,-102.619,0:346:1:345:12057:16 0/1:-301.524,0,-287.939:248:116:128:4333:4155 1/1:-909.797,-85.6978,0:301:2:297:10642:49 1/1:-945.925,-91.2121,0:304:0:303:10968:0:0,303 1/1:-1095.69,-108.371,0:360:0:360:12646:0 1/1:-645.405,-64.1194,0:213:0:213:7435:0 1/1:-768.238,-75.5585,0:253:0:251:8882:0 1/1:-1082.32,-105.662,0:351:0:351:12556:0:0,351 1/1:-579.789,-59.6039,0:198:0:198:6678:0:0,198 1/1:-593.269,-62.0122,0:206:0:206:6846:0 1/1:-901.333,-89.7069,0:299:0:298:10394:0 0/1:-190.549,0,-180.856:152:74:77:2710:2599:74,77 1/1:-1710.72,-170.14,0:571:1:569:19869:16:1,569 1/1:-1087.73,-111.536,0:375:1:374:12706:14 0/1:-458.81,0,-635.289:464:262:202:6895:8907:262,202 1/1:-635.618,-65.3235,0:218:0:217:7429:0 1/1:-1401.18,-140.581,0:471:0:467:16314:0 1/1:-721.85,-71.362,0:238:1:237:8310:14 0/1:-266.332,0,-321.623:257:140:116:3951:4582 0/1:-300.723,0,-389.703:287:156:131:4519:5459 . 1/1:-723.615,-71.6451,0:239:0:238:8349:0 0/1:-202.901,0,-248.866:190:100:88:3006:3509 1/1:-853.266,-84.823,0:285:1:283:9928:36 +chr1 236907966 . G A 5102.44 . AB=0.525773;ABP=5.24893;AC=4;AF=0.5;AN=8;AO=204;CIGAR=1X;DP=1572;DPB=388;DPRA=0;EPP=3.18061;EPPR=5.32339;GTI=0;LEN=1;MEANALT=1;MQM=41.3922;MQMR=41.7011;NS=1;NUMALT=1;ODDS=1041.04;PAIRED=0.97549;PAIREDR=0.994565;PAO=0;PQA=0;PQR=0;PRO=0;QA=7393;QR=6694;RO=184;RPL=125;RPP=25.534;RPPR=37.4234;RPR=79;RUN=1;SAF=95;SAP=5.09662;SAR=109;SF=2,8,13,17;SRF=84;SRP=6.03148;SRR=100;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . 0/1:-522.93,0,-463.43:388:184:204:7393:6694 . . . . . 0/1:-401.007,0,-361.956:297:144:152:5662:5198 . . . . 0/1:-527.51,0,-507.914:411:202:209:7518:7262 . . . 0/1:-634.498,0,-584.333:476:230:245:8992:8383 . . . . . . . . . . . . . . . . . . . +chr1 236914754 . T C 2615.40 . AB=0.45815;ABP=6.46361;AC=1;AF=0.5;AN=2;AO=104;CIGAR=1X;DP=227;DPB=227;DPRA=0;EPP=8.35546;EPPR=8.11238;GTI=0;LEN=1;MEANALT=1;MQM=41.7788;MQMR=41.5447;NS=1;NUMALT=1;ODDS=602.219;PAIRED=0.932692;PAIREDR=0.95122;PAO=0;PQA=0;PQR=0;PRO=0;QA=3915;QR=4581;RO=123;RPL=59;RPP=7.10269;RPPR=19.976;RPR=45;RUN=1;SAF=51;SAP=3.09382;SAR=53;SF=32;SRF=59;SRP=3.45166;SRR=64;TYPE=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=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-269.43,0,-325.224:227:123:104:3915:4581 . . . . +chr1 236925844 . G A 4071.93 . AB=0.5;ABP=3.0103;AC=13;AF=0.5;AN=26;AO=164;CIGAR=1X;DP=4506;DPB=328;DPRA=0;EPP=8.30657;EPPR=6.00773;GTI=0;LEN=1;MEANALT=2;MQM=41.0549;MQMR=41.5276;NS=1;NUMALT=1;ODDS=873.775;PAIRED=0.97561;PAIREDR=0.98773;PAO=0;PQA=0;PQR=0;PRO=0;QA=5942;QR=5585;RO=163;RPL=112;RPP=50.6768;RPPR=6.00773;RPR=52;RUN=1;SAF=80;SAP=3.22215;SAR=84;SF=2,8,10,11,12,13,16,17,19,20,31,33,36;SRF=78;SRP=3.66307;SRR=85;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-408.262,0,-387.108:328:163:164:5942:5585 . . . . . 0/1:-380.549,0,-368.352:297:146:151:5405:5257 . 0/1:-320.753,0,-495.039:327:190:136:4822:6816:190,136 0/1:-443.244,0,-489.467:384:202:182:6456:6969 0/1:-575.349,0,-618.888:480:247:231:8366:8769:247,231 0/1:-308.971,0,-438.927:305:173:132:4628:6090 . . 0/1:-481.64,0,-387.376:346:160:186:6768:5647:160,186 0/1:-508.287,0,-497.42:407:200:204:7290:7105 . 0/1:-437.14,0,-382.88:324:155:168:6164:5519 0/1:-623.541,0,-478.36:441:196:245:8730:7014:196,245 . . . . . . . . . . 0/1:-236.194,0,-271.688:210:110:99:3449:3834 . 0/1:-316.118,0,-397.128:287:156:131:4662:5543 . . 0/1:-392.457,0,-519.719:370:206:164:5809:7307 +chr1 237527741 . G T 415.72 . AB=0.527778;ABP=3.25157;AC=1;AF=0.5;AN=2;AO=19;CIGAR=1X;DP=36;DPB=36;DPRA=0;EPP=5.8675;EPPR=6.20364;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=86.6167;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=691;QR=645;RO=17;RPL=15;RPP=16.8392;RPPR=24.5973;RPR=4;RUN=1;SAF=3;SAP=22.325;SAR=16;SF=24;SRF=4;SRP=13.3567;SRR=13;TYPE=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=rs144039159;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_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=0.0086;AF_male=0.0024;AF_female=0.0026;AF_raw=0.0025;AF_afr=0.0086;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0;AF_asj=0;AF_oth=0.0019;non_topmed_AF_popmax=0.0088;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0085;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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-49.4023,0,-45.3155:36:17:19:691:645:17,19 . . . . . . . . . . . . +chr1 237540615 . A C 1156.73 . AB=0.58427;ABP=8.49998;AC=11;AF=0.5;AN=20;AO=52;CIGAR=1X;DP=801;DPB=89;DPRA=0;EPP=35.7494;EPPR=3.5385;GTI=0;LEN=1;MEANALT=1;MQM=41.9615;MQMR=42;NS=1;NUMALT=1;ODDS=187.614;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1929;QR=1345;RO=37;RPL=18;RPP=13.7006;RPPR=24.1968;RPR=34;RUN=1;SAF=28;SAP=3.67845;SAR=24;SF=5,8,9,11,13,14,24,26,32,36;SRF=20;SRP=3.5385;SRR=17;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-140.344,0,-90.0156:89:37:52:1929:1345:37,52 . . 0/1:-112.24,0,-67.6318:68:27:41:1531:1017 0/1:-51.5279,0,-72.2776:49:28:21:763:1028:28,21 . 0/1:-120.937,0,-194.38:124:72:52:1832:2677 . 1/1:-280.596,-26.4906,0:88:0:88:3235:0 0/1:-77.2311,0,-74.1191:60:29:30:1097:1081 . . . . . . . . . 0/1:-71.3014,0,-28.3938:37:12:25:950:452:12,25 . 0/1:-204.071,0,-133.211:133:54:79:2841:1998 . . . . . 0/1:-102.576,0,-126.673:86:46:40:1480:1764 . . . 0/1:-89.6869,0,-83.2311:67:32:35:1264:1192 +chr1 237551376 . T A 4522.38 . AB=0.530516;ABP=4.73321;AC=40;AF=0.5;AN=60;AO=113;CIGAR=1X;DP=7299;DPB=213;DPRA=0;EPP=8.56389;EPPR=22.5536;GTI=0;LEN=1;MEANALT=1;MQM=41.6637;MQMR=42;NS=1;NUMALT=1;ODDS=588.426;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4228;QR=3805;RO=100;RPL=44;RPP=15.0207;RPPR=10.0459;RPR=69;RUN=1;SAF=62;SAP=5.3355;SAR=51;SF=0,1,2,3,5,6,7,8,9,10,11,12,13,14,18,19,20,21,22,23,24,25,26,27,28,29,30,31,33,36;SRF=56;SRP=6.13722;SRR=44;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-300.087,0,-265.257:213:100:113:4228:3805:100,113 1/1:-280.124,-25.8886,0:86:0:86:3240:0 1/1:-747.037,-68.3403,0:232:1:231:8696:15 1/1:-900.813,-83.0843,0:276:0:276:10442:0:0,276 . 0/1:-330.945,0,-440.647:294:163:131:4884:6113:163,131 0/1:-317.113,0,-241.079:211:95:116:4411:3511:95,116 0/1:-434.7,0,-497.182:354:187:166:6281:6991 0/1:-285.669,0,-263.942:207:101:106:4034:3781 0/1:-249.371,0,-245.766:187:93:94:3539:3488:93,94 0/1:-316.381,0,-283.227:226:109:117:4456:4054:109,117 0/1:-378.071,0,-457.054:319:171:148:5490:6378 1/1:-1129.55,-104.457,0:347:0:347:13099:0:0,347 0/1:-292.149,0,-425.268:275:156:119:4348:5880 0/1:-248.706,0,-154.595:150:61:89:3405:2303 . . . 0/1:-149.672,0,-263.332:158:95:63:2277:3591 0/1:-308.568,0,-351.652:251:132:119:4464:4930 0/1:-423.879,0,-444.886:335:171:163:6106:6328:171,163 1/1:-415.302,-38.8329,0:129:0:129:4818:0:0,129 1/1:-389.027,-35.8226,0:119:0:119:4499:0 1/1:-890.112,-82.4822,0:275:0:274:10358:0 0/1:-268.916,0,-196.667:175:76:99:3721:2882:76,99 0/1:-506.508,0,-551.004:405:209:195:7276:7766:209,195 0/1:-378.583,0,-370.032:293:145:148:5402:5276 0/1:-448.93,0,-427.243:341:166:173:6394:6136:166,173 1/1:-643.86,-59.905,0:199:0:199:7456:0 1/1:-1199.14,-112.284,0:373:0:373:13894:0 1/1:-646.815,-59.3029,0:197:0:197:7492:0 0/1:-291.695,0,-283.589:217:108:109:4128:4026 . 0/1:-353.803,0,-171.508:197:70:127:4783:2666 . . 0/1:-318.455,0,-365.343:258:137:121:4582:5117 +chr1 237586384 . T C 2093.26 . AB=0.564626;ABP=8.34296;AC=10;AF=0.5;AN=18;AO=83;CIGAR=1X;DP=1345;DPB=147;DPRA=0;EPP=5.12945;EPPR=11.6962;GTI=0;LEN=1;MEANALT=1;MQM=41.7831;MQMR=41.4375;NS=1;NUMALT=1;ODDS=347.63;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3106;QR=2389;RO=64;RPL=30;RPP=16.8502;RPPR=3.14602;RPR=53;RUN=1;SAF=53;SAP=16.8502;SAR=30;SF=3,4,8,13,23,26,31,34,36;SRF=43;SRP=19.4321;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-224.392,0,-160.222:147:64:83:3106:2389:64,83 0/1:-206.118,0,-155.599:134:59:75:2853:2269 . . . 0/1:-108.905,0,-206.235:120:75:45:1675:2803 . . . . 0/1:-245.729,0,-319.81:215:118:95:3584:4447 . . . . . . . . . 0/1:-187.592,0,-227.899:158:84:73:2714:3189 . . 0/1:-213.701,0,-217.068:169:84:85:3052:3092 . . . . 0/1:-110.585,0,-171.877:111:64:47:1659:2369 . . 1/1:-440.643,-41.2411,0:137:0:137:5160:0 . 0/1:-234.909,0,-169.662:154:66:88:3248:2502 +chr1 237608842 . C T 4033.93 . AB=0.485119;ABP=3.65657;AC=1;AF=0.5;AN=2;AO=163;CIGAR=1X;DP=336;DPB=336;DPRA=0;EPP=40.4316;EPPR=84.7598;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9765;NS=1;NUMALT=1;ODDS=928.846;PAIRED=0.993865;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5962;QR=6258;RO=170;RPL=101;RPP=23.2729;RPPR=25.5425;RPR=62;RUN=1;SAF=92;SAP=8.88527;SAR=71;SF=13;SRF=97;SRP=10.3678;SRR=73;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-416.804,0,-442.003:336:170:163:5962:6258 . . . . . . . . . . . . . . . . . . . . . . . +chr1 237617757 . C T 4611.20 . AB=0.478992;ABP=3.92268;AC=40;AF=0.5;AN=62;AO=114;CIGAR=1X;DP=7960;DPB=238;DPRA=0;EPP=12.2295;EPPR=23.254;GTI=0;LEN=1;MEANALT=1;MQM=41.9825;MQMR=42;NS=1;NUMALT=1;ODDS=661.557;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4232;QR=4601;RO=124;RPL=51;RPP=5.75321;RPPR=23.254;RPR=63;RUN=1;SAF=55;SAP=3.31507;SAR=59;SF=0,1,3,4,5,6,7,9,10,12,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,32,33,34,35,36;SRF=64;SRP=3.29049;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-295.293,0,-327.338:238:124:114:4232:4601:124,114 0/1:-91.6152,0,-115.761:80:44:36:1332:1610 . 0/1:-266.425,0,-346.757:236:132:104:3898:4826:132,104 0/1:-275.408,0,-463.819:285:172:113:4200:6367 0/1:-384.495,0,-421.274:311:163:148:5522:5945:163,148 0/1:-247.887,0,-246.512:193:98:95:3530:3505:98,95 0/1:-413.897,0,-503.705:359:195:164:6032:7066 . 0/1:-257.491,0,-299.151:219:116:103:3728:4225:116,103 0/1:-320.17,0,-261.804:222:102:120:4474:3796:102,120 . 1/1:-1093.4,-101.58,0:348:2:345:12685:32:2,345 . . 0/1:-354.472,0,-418.195:298:158:138:5152:5854 0/1:-338.069,0,-369.23:273:140:131:4858:5213:140,131 0/1:-440.638,0,-319.341:297:131:166:6140:4715 0/1:-230.307,0,-221.429:173:85:88:3259:3160 1/1:-868.466,-81.8802,0:272:0:272:10050:0 0/1:-409.68,0,-483.39:348:184:162:5939:6786:184,162 0/1:-371.358,0,-73.9692:177:41:136:4904:1459:41,136 1/1:-544.075,-52.6803,0:175:0:175:6273:0 1/1:-1022.04,-95.7275,0:318:0:318:11813:0 0/1:-142.152,0,-177.494:124:67:57:2067:2479:67,57 1/1:-1245.01,-118.305,0:395:0:393:14368:0:0,393 0/1:-383.972,0,-407.061:324:163:157:5560:5823 1/1:-1020.13,-97.7148,0:332:1:329:11792:18:1,329 1/1:-599.651,-57.1019,0:195:1:194:6921:16 0/1:-443.505,0,-489.282:375:194:178:6453:6968 0/1:-318.461,0,-332.453:253:129:124:4563:4707 . 0/1:-364.343,0,-247.162:233:98:135:5013:3661 0/1:-221.769,0,-305.648:204:114:90:3261:4234 1/1:-720.626,-67.7318,0:226:0:225:8317:0 1/1:-484.517,-46.3586,0:154:0:154:5604:0 0/1:-413.702,0,-415.738:323:162:161:5917:5917 +chr1 237619993 . G A 6852.59 . AB=0.574153;ABP=25.5531;AC=1;AF=0.5;AN=2;AO=271;CIGAR=1X;DP=472;DPB=472;DPRA=0;EPP=23.8516;EPPR=56.2114;GTI=0;LEN=1;MEANALT=2;MQM=41.9631;MQMR=41.7;NS=1;NUMALT=1;ODDS=1061.28;PAIRED=1;PAIREDR=0.99;PAO=0;PQA=0;PQR=0;PRO=0;QA=10033;QR=7328;RO=200;RPL=49;RPP=242.826;RPPR=129.651;RPR=222;RUN=1;SAF=162;SAP=25.5183;SAR=109;SF=25;SRF=127;SRP=34.6704;SRR=73;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon16:c.G1570A:p.E524K;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.277;SIFT_converted_rankscore=0.156;SIFT_pred=T;Polyphen2_HDIV_score=0.951;Polyphen2_HDIV_rankscore=0.520;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.6;Polyphen2_HVAR_rankscore=0.489;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.428;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.530;MutationTaster_pred=D;MutationAssessor_score=2.11;MutationAssessor_score_rankscore=0.588;MutationAssessor_pred=M;FATHMM_score=-3.73;FATHMM_converted_rankscore=0.955;FATHMM_pred=D;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.508;PROVEAN_pred=N;VEST3_score=0.595;VEST3_rankscore=0.749;MetaSVM_score=0.770;MetaSVM_rankscore=0.940;MetaSVM_pred=D;MetaLR_score=0.850;MetaLR_rankscore=0.950;MetaLR_pred=D;M-CAP_score=0.264;M-CAP_rankscore=0.897;M-CAP_pred=D;REVEL_score=0.705;REVEL_rankscore=0.896;MutPred_score=0.639;MutPred_rankscore=0.776;CADD_raw=4.480;CADD_raw_rankscore=0.600;CADD_phred=24.2;DANN_score=0.998;DANN_rankscore=0.852;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.902;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.331;Eigen-PC-raw=0.266;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=4.6;GERP++_RS_rankscore=0.564;phyloP100way_vertebrate=6.903;phyloP100way_vertebrate_rankscore=0.753;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.687;phastCons20way_mammalian_rankscore=0.306;SiPhy_29way_logOdds=17.798;SiPhy_29way_logOdds_rankscore=0.884;Interpro_domain=RIH_(RyR_and_IP3R_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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.789285;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-725.154,0,-492.302:472:200:271:10033:7328:200,271 . . . . . . . . . . . +chr1 237620049 . T C 4532.38 . AB=0.487923;ABP=3.27256;AC=39;AF=0.5;AN=62;AO=101;CIGAR=1X;DP=7925;DPB=207;DPRA=0;EPP=35.7114;EPPR=31.3222;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.8286;NS=1;NUMALT=1;ODDS=568.16;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3792;QR=3877;RO=105;RPL=82;RPP=88.3427;RPPR=79.9631;RPR=19;RUN=1;SAF=53;SAP=3.54779;SAR=48;SF=0,1,3,4,5,6,7,9,10,12,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,32,33,34,35,36;SRF=51;SRP=3.19643;SRR=54;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-265.79,0,-273.639:207:105:101:3792:3877:105,101 0/1:-157.082,0,-160.289:119:60:59:2231:2267 . 0/1:-243.13,0,-320.878:217:120:96:3565:4491:120,96 0/1:-415.221,0,-313.366:282:126:156:5786:4608 0/1:-424.462,0,-293.082:278:118:160:5929:4393:118,160 0/1:-339.517,0,-278.861:234:107:127:4746:4038:107,127 0/1:-422.945,0,-432.776:329:165:163:6060:6174 . 0/1:-245.53,0,-230.061:186:90:96:3527:3321:90,96 0/1:-350.87,0,-280.411:246:112:134:4937:4139:112,134 . 1/1:-994.089,-93.0183,0:309:0:309:11549:0:0,309 . . 0/1:-396.111,0,-322.694:274:126:148:5560:4684 0/1:-402.963,0,-255.553:253:103:149:5544:3837:103,149 0/1:-397.632,0,-315.542:271:121:150:5605:4594 0/1:-171.469,0,-212.765:147:79:67:2489:2970 1/1:-828.156,-78.2678,0:261:0:260:9626:0 0/1:-383.478,0,-349.966:282:135:146:5418:5027:135,146 0/1:-320.337,0,-95.3102:164:47:117:4262:1681:47,117 1/1:-470.808,-44.5524,0:148:0:148:5434:0 1/1:-952.597,-88.8039,0:295:0:295:11033:0 0/1:-170.929,0,-141.266:125:58:67:2404:2061:58,67 1/1:-1621.77,-152.321,0:514:1:511:18801:20:1,511 0/1:-436.101,0,-478.8:362:186:175:6317:6784 1/1:-1197.14,-112.585,0:374:0:374:13875:0:0,374 1/1:-679.872,-64.4204,0:214:0:214:7858:0 0/1:-519.903,0,-532.104:411:204:206:7467:7598 0/1:-269.139,0,-389.773:252:144:108:3999:5383 . 0/1:-263.717,0,-291.819:213:111:101:3785:4113 0/1:-249.278,0,-331.946:222:125:97:3656:4637 0/1:-382.774,0,-305.099:260:117:143:5343:4435 1/1:-531.884,-50.573,0:168:0:168:6141:0 0/1:-368.082,0,-421.76:308:164:143:5324:5989 +chr1 237632512 . T C 1310.24 . AB=0.449438;ABP=6.96287;AC=1;AF=0.5;AN=2;AO=80;CIGAR=1X;DP=178;DPB=178;DPRA=0;EPP=11.8048;EPPR=20.744;GTI=0;LEN=1;MEANALT=3;MQM=36.65;MQMR=37.9167;NS=1;NUMALT=1;ODDS=301.695;PAIRED=0.9875;PAIREDR=0.96875;PAO=0;PQA=0;PQR=0;PRO=0;QA=2356;QR=3002;RO=96;RPL=34;RPP=6.91895;RPPR=7.44372;RPR=46;RUN=1;SAF=25;SAP=27.4394;SAR=55;SF=12;SRF=33;SRP=23.3679;SRR=63;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-141.447,0,-201.676:178:96:80:2356:3002:96,80 . . . . . . . . . . . . . . . . . . . . . . . . +chr1 237655173 . A T 535.48 . AB=0.432432;ABP=4.47751;AC=6;AF=0.5;AN=12;AO=16;CIGAR=1X;DP=301;DPB=37;DPRA=0;EPP=3.55317;EPPR=3.94093;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=83.5927;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=608;QR=775;RO=21;RPL=7;RPP=3.55317;RPPR=3.94093;RPR=9;RUN=1;SAF=10;SAP=5.18177;SAR=6;SF=1,6,10,30,35,36;SRF=11;SRP=3.1137;SRR=10;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-41.7612,0,-56.2118:37:21:16:608:775 . . . . 0/1:-71.3275,0,-86.7854:60:33:27:1031:1206:33,27 . . . 0/1:-93.8091,0,-26.3978:45:12:33:1248:459:12,33 . . . . . . . . . . . . . . . . . . . 0/1:-44.1166,0,-59.565:41:22:19:661:826 . . . . 0/1:-29.1577,0,-91.123:46:33:13:493:1210 0/1:-84.9374,0,-87.4813:72:37:34:1226:1262 +chr1 237656289 . C T 2627.44 . AB=0.509259;ABP=3.17115;AC=1;AF=0.5;AN=2;AO=110;CIGAR=1X;DP=216;DPB=216;DPRA=0;EPP=5.85295;EPPR=11.2045;GTI=0;LEN=1;MEANALT=1;MQM=41.9273;MQMR=41.2264;NS=1;NUMALT=1;ODDS=577.147;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3955;QR=3906;RO=106;RPL=31;RPP=48.4928;RPPR=46.3578;RPR=79;RUN=1;SAF=78;SAP=44.7815;SAR=32;SF=25;SRF=81;SRP=67.2531;SRR=25;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-278.594,0,-269.215:216:106:110:3955:3906:106,110 . . . . . . . . . . . +chr1 237670107 . A G 595.36 . AB=0.451613;ABP=4.27115;AC=1;AF=0.5;AN=2;AO=28;CIGAR=1X;DP=62;DPB=62;DPRA=0;EPP=22.8638;EPPR=4.03217;GTI=0;LEN=1;MEANALT=1;MQM=41.2143;MQMR=41.9412;NS=1;NUMALT=1;ODDS=137.087;PAIRED=0.964286;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1009;QR=1283;RO=34;RPL=13;RPP=3.32051;RPPR=19.3602;RPR=15;RUN=1;SAF=9;SAP=10.7656;SAR=19;SF=12;SRF=12;SRP=9.39698;SRR=22;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon23:c.A2711G:p.Y904C;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201131315;CLNALLELEID=172547;CLNDN=not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:CN169374|MedGen:CN230736|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=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=3.095;MutationAssessor_score_rankscore=0.878;MutationAssessor_pred=M;FATHMM_score=-3.3;FATHMM_converted_rankscore=0.938;FATHMM_pred=D;PROVEAN_score=-6.29;PROVEAN_converted_rankscore=0.907;PROVEAN_pred=D;VEST3_score=0.768;VEST3_rankscore=0.894;MetaSVM_score=1.012;MetaSVM_rankscore=0.974;MetaSVM_pred=D;MetaLR_score=0.898;MetaLR_rankscore=0.966;MetaLR_pred=D;M-CAP_score=0.883;M-CAP_rankscore=0.991;M-CAP_pred=D;REVEL_score=0.956;REVEL_rankscore=0.993;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.031;CADD_raw_rankscore=0.830;CADD_phred=28.0;DANN_score=0.998;DANN_rankscore=0.926;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.835;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.822;Eigen-PC-raw=0.770;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=5.49;GERP++_RS_rankscore=0.809;phyloP100way_vertebrate=7.360;phyloP100way_vertebrate_rankscore=0.786;phyloP20way_mammalian=1.028;phyloP20way_mammalian_rankscore=0.649;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=15.571;SiPhy_29way_logOdds_rankscore=0.760;Interpro_domain=Ryanodine_receptor_Ryr;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.833e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.308e-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=0.0001;AF_female=0.0002;AF_raw=0.0002;AF_afr=0.0001;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=0.0001;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=Name\x3dENSR00000939271|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.941561;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-67.9543,0,-92.6278:62:34:28:1009:1283:34,28 . . . . . . . . . . . . . . . . . . . . . . . . +chr1 237670140 . A G 667.55 . AB=0.333333;ABP=7.35324;AC=43;AF=0.5;AN=64;AO=6;CIGAR=1X;DP=1194;DPB=18;DPRA=0;EPP=3.0103;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=20.4941;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=231;QR=454;RO=12;RPL=3;RPP=3.0103;RPPR=9.52472;RPR=3;RUN=1;SAF=0;SAP=16.0391;SAR=6;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,20,21,22,24,25,26,27,29,30,31,32,34,35,36;SRF=4;SRP=5.9056;SRR=8;TYPE=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:GL:DP:RO:AO:QA:QR:AD . 0/1:-14.8668,0,-34.2183:18:12:6:231:454 0/1:-44.3487,0,-54.3407:37:20:17:653:768 0/1:-39.3105,0,-38.9305:30:15:15:570:552:15,15 0/1:-47.3654,0,-35.6258:31:14:17:654:517 1/1:-127.717,-11.7402,0:39:0:39:1490:0:0,39 1/1:-74.3739,-7.22472,0:24:0:24:873:0:0,24 0/1:-58.1713,0,-40.8957:40:17:22:822:606 0/1:-54.9479,0,-39.2731:35:15:20:769:573 0/1:-17.9132,0,-49.0117:25:17:8:289:651:17,8 0/1:-40.4735,0,-47.5675:34:18:16:601:665:18,16 0/1:-104.912,0,-63.9294:65:26:39:1462:973 1/1:-152.179,-14.1484,0:47:0:47:1769:0:0,47 0/1:-79.096,0,-59.7968:53:23:29:1096:886 1/1:-83.4441,-8.12781,0:27:0:27:960:0 0/1:-39.9872,0,-38.6795:31:15:16:580:552 0/1:-50.0292,0,-62.6302:43:23:20:737:888:23,20 1/1:-148.265,-13.8474,0:46:0:46:1712:0 0/1:-37.1543,0,-30.9095:27:13:14:534:491 . 0/1:-34.1487,0,-39.4757:29:15:14:506:555:15,14 1/1:-114.806,-11.1381,0:37:0:37:1318:0:0,37 1/1:-135.318,-12.9443,0:43:0:43:1571:0 . 0/1:-27.9859,0,-6.51264:13:3:10:364:117:3,10 0/1:-95.4669,0,-92.4485:72:35:37:1377:1317:35,37 1/1:-191.081,-18.9649,0:63:0:63:2215:0 1/1:-134.666,-13.2453,0:45:0:44:1586:0:0,44 . 0/1:-61.1528,0,-103.814:64:38:26:957:1443 0/1:-27.7928,0,-18.7958:20:8:12:401:282 0/1:-32.8036,0,-57.6913:35:21:14:509:788 0/1:-32.1388,0,-10.5638:17:5:12:428:193 . 1/1:-109.082,-10.235,0:34:0:34:1268:0 1/1:-98.3305,-9.0309,0:30:0:30:1151:0 0/1:-50.9448,0,-54.0117:40:20:20:733:762 +chr1 237711797 . A G 6290.60 . AB=0;ABP=0;AC=69;AF=1;AN=72;AO=206;CIGAR=1X;DP=7743;DPB=206;DPRA=0;EPP=40.9584;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.733;MQMR=0;NS=1;NUMALT=1;ODDS=290.182;PAIRED=0.990291;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7541;QR=0;RO=0;RPL=56;RPP=96.1517;RPPR=0;RPR=150;RUN=1;SAF=113;SAP=7.22675;SAR=93;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-653.398,-62.0122,0:206:0:206:7541:0:0,206 1/1:-275.486,-25.8886,0:86:0:86:3171:0 1/1:-758.028,-70.9493,0:241:1:240:8807:16 1/1:-702.156,-66.2266,0:220:0:220:8133:0:0,220 1/1:-755.527,-70.7421,0:235:0:235:8727:0 1/1:-874.578,-81.8802,0:273:0:272:10094:0:0,272 1/1:-605.583,-57.4967,0:191:0:191:6991:0:0,191 1/1:-1037.68,-98.1358,0:326:0:326:11964:0 1/1:-627.468,-58.7009,0:196:0:195:7249:0 1/1:-467.553,-43.9504,0:146:0:146:5421:0:0,146 1/1:-586.376,-55.0885,0:183:0:183:6758:0:0,183 1/1:-894.482,-85.1915,0:283:0:283:10321:0 1/1:-1073.26,-101.748,0:338:0:338:12395:0:0,338 1/1:-834.045,-74.2689,0:270:2:268:9699:77 1/1:-567.163,-53.8844,0:179:0:179:6539:0 1/1:-814.331,-78.5688,0:261:0:261:9437:0 1/1:-657.353,-61.4101,0:204:0:204:7595:0:0,204 1/1:-780.913,-72.5482,0:241:0:241:9032:0 1/1:-393.722,-37.6288,0:125:0:125:4537:0 1/1:-779.168,-72.8493,0:242:0:242:9000:0 1/1:-760.348,-70.1479,0:239:1:238:8792:18:1,238 1/1:-426.136,-38.0394,0:138:1:137:4941:36:1,137 1/1:-431.733,-39.2436,0:142:1:141:5007:36 1/1:-797.977,-73.6586,0:250:1:249:9261:16 1/1:-418.29,-39.1339,0:130:0:130:4823:0:0,130 0/1:-478.671,0,-498.217:380:194:186:6835:7098:194,186 0/1:-319.972,0,-314.426:257:129:127:4573:4527 1/1:-910.091,-86.3956,0:287:0:287:10511:0:0,287 0/1:-226.074,0,-156.11:147:63:84:3115:2309 . 1/1:-585.616,-55.6906,0:185:0:185:6757:0 1/1:-525.939,-50.8741,0:169:0:169:6058:0 1/1:-673.068,-63.8184,0:212:0:212:7759:0 1/1:-687.205,-64.4204,0:214:0:214:7943:0 1/1:-627.678,-59.0019,0:196:0:196:7240:0 1/1:-369.541,-35.2205,0:117:0:117:4274:0 1/1:-743.041,-70.441,0:234:0:234:8563:0 +chr1 237753074 . ATTTTTTTTTTCTTCCCA ATTTTTTTTTCTTCCCA 3254.17 . AB=0.430052;ABP=11.2124;AC=32;AF=0.5;AN=50;AO=83;CIGAR=1M1D16M;DP=5016;DPB=188.778;DPRA=0;EPP=3.66436;EPPR=5.61177;GTI=0;LEN=1;MEANALT=7;MQM=41.5422;MQMR=42;NS=1;NUMALT=1;ODDS=446.358;PAIRED=1;PAIREDR=0.990099;PAO=1;PQA=28.5;PQR=28.5;PRO=1;QA=2985;QR=3710;RO=101;RPL=34;RPP=8.89682;RPPR=14.3837;RPR=49;RUN=1;SAF=50;SAP=10.5712;SAR=33;SF=0,2,6,7,8,9,11,12,14,15,16,17,18,19,21,22,23,25,27,28,30,32,33,34,36;SRF=59;SRP=9.22372;SRR=42;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 0/1:-202.041,0,-266.092:193:101:83:2985:3710:101,83 . 0/1:.,.,-243.737:201:96:96:3303:3528 . . . 0/1:-192.416,0,-253.771:184:95:79:2832:3537:95,79 0/1:.,.,-253.918:243:107:129:4614:3939 1/1:.,.,0:164:2:160:5830:71 0/1:-142.83,0,-159.015:131:61:60:2065:2254:61,60 . 1/1:.,.,0:292:4:278:9584:142 1/1:-838.097,-83.9939,0:278:1:269:9703:38:1,269 . 1/1:.,.,0:149:3:142:5105:113 0/1:.,.,-313.511:228:123:94:3205:4492 0/1:-280.344,0,-290.802:227:111:111:4020:4138:111,111 0/1:.,.,-196.721:202:82:113:4141:3043 0/1:.,.,-118.553:144:51:89:3087:1879 1/1:.,.,0:177:2:169:5921:76 . 0/1:-146.597,0,-212.668:158:83:64:2233:3007:83,64 0/1:.,.,-218.517:167:85:77:2659:3125 1/1:.,.,0:217:1:214:7658:38 . 0/1:-309.178,0,-385.534:290:148:131:4564:5460:148,131 . 0/1:-289.857,0,-391.176:292:150:125:4326:5490:150,125 0/1:.,.,-169.757:166:71:90:3116:2602 . 0/1:.,.,-272.194:211:109:97:3487:3978 . 0/1:.,.,-196.1:162:79:79:2856:2871 1/1:.,.,0:164:0:162:5650:0 0/1:.,.,-232.231:203:93:105:3823:3428 . 0/1:.,.,-223.636:173:89:77:2783:3218 +chr1 237765311 . TAA TA 1244.86 . AB=0.4375;ABP=7.35324;AC=1;AF=0.5;AN=2;AO=56;CIGAR=1M1D1M;DP=128;DPB=112;DPRA=0;EPP=3.16541;EPPR=6.02623;GTI=0;LEN=1;MEANALT=1;MQM=41.0357;MQMR=41.6806;NS=1;NUMALT=1;ODDS=286.64;PAIRED=1;PAIREDR=1;PAO=4;PQA=140;PQR=101;PRO=3;QA=1986;QR=2642;RO=72;RPL=33;RPP=6.88793;RPPR=4.9405;RPR=23;RUN=1;SAF=30;SAP=3.63072;SAR=26;SF=26;SRF=37;SRP=3.13094;SRR=35;TYPE=del;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\x3d98.615732;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-131.452,0,-186.698:128:72:56:1986:2642 . . . . . . . . . . +chr1 237774051 . C T 3335.43 . AB=0.590909;ABP=10.9066;AC=2;AF=0.5;AN=4;AO=65;CIGAR=1X;DP=460;DPB=110;DPRA=0;EPP=4.64726;EPPR=5.37479;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=239.466;PAIRED=0.969231;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2421;QR=1651;RO=45;RPL=25;RPP=10.5269;RPPR=3.44459;RPR=40;RUN=1;SAF=46;SAP=27.3642;SAR=19;SF=24,29;SRF=29;SRP=11.1654;SRR=16;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0638978;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs7546045;CLNALLELEID=52960;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=0.0012;ExAC_nontcga_ALL=0.0501;ExAC_nontcga_AFR=0.3035;ExAC_nontcga_AMR=0.0348;ExAC_nontcga_EAS=0.0226;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0171;ExAC_nontcga_SAS=0.0272;AF=0.0507;AF_popmax=0.1787;AF_male=0.0525;AF_female=0.0485;AF_raw=0.0509;AF_afr=0.1787;AF_sas=.;AF_amr=0.0083;AF_eas=0.0045;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.1796;non_neuro_AF_popmax=0.1833;non_cancer_AF_popmax=.;controls_AF_popmax=0.1904;Kaviar_AF=0.0177876;Kaviar_AC=2750;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.420066;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-176.554,0,-110.816:110:45:65:2421:1651:45,65 . . . . 0/1:-520.123,0,-347.889:350:149:199:7301:5226 . . . . . . . +chr1 237778084 . G A 1899.28 . AB=0.507143;ABP=3.07234;AC=4;AF=0.5;AN=8;AO=71;CIGAR=1X;DP=646;DPB=140;DPRA=0;EPP=3.28556;EPPR=6.20364;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.3971;NS=1;NUMALT=1;ODDS=381.79;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2587;QR=2510;RO=68;RPL=30;RPP=6.71098;RPPR=3.13803;RPR=41;RUN=1;SAF=19;SAP=36.3164;SAR=52;SF=3,18,19,29;SRF=20;SRP=28.0461;SRR=48;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-182.67,0,-174.909:140:68:71:2587:2510:68,71 . . . . . . . . . . . . . . 0/1:-80.1527,0,-127.572:80:46:33:1197:1748 0/1:-233.483,0,-231.087:177:88:89:3307:3282 . . . . . . . . . 0/1:-305.258,0,-309.085:249:124:125:4409:4420 . . . . . . . +chr1 237780626 . G A 4648.95 . AB=0.568323;ABP=16.0661;AC=1;AF=0.5;AN=2;AO=183;CIGAR=1X;DP=322;DPB=322;DPRA=0;EPP=5.68014;EPPR=6.52527;GTI=0;LEN=1;MEANALT=1;MQM=41.7705;MQMR=42;NS=1;NUMALT=1;ODDS=766.488;PAIRED=1;PAIREDR=0.992806;PAO=0;PQA=0;PQR=0;PRO=0;QA=6671;QR=5098;RO=139;RPL=58;RPP=56.2766;RPPR=46.8928;RPR=125;RUN=1;SAF=111;SAP=21.0584;SAR=72;SF=34;SRF=76;SRP=5.65044;SRR=63;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon38:c.G5756A:p.R1919Q;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs199893812;CLNALLELEID=447825;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.362;SIFT_converted_rankscore=0.118;SIFT_pred=T;Polyphen2_HDIV_score=0.409;Polyphen2_HDIV_rankscore=0.332;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.061;Polyphen2_HVAR_rankscore=0.254;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=0.985;MutationTaster_converted_rankscore=0.402;MutationTaster_pred=D;MutationAssessor_score=1.22;MutationAssessor_score_rankscore=0.307;MutationAssessor_pred=L;FATHMM_score=-0.7;FATHMM_converted_rankscore=0.728;FATHMM_pred=T;PROVEAN_score=-0.34;PROVEAN_converted_rankscore=0.127;PROVEAN_pred=N;VEST3_score=0.537;VEST3_rankscore=0.673;MetaSVM_score=-0.853;MetaSVM_rankscore=0.518;MetaSVM_pred=T;MetaLR_score=0.183;MetaLR_rankscore=0.531;MetaLR_pred=T;M-CAP_score=0.032;M-CAP_rankscore=0.540;M-CAP_pred=D;REVEL_score=0.261;REVEL_rankscore=0.578;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.322;CADD_raw_rankscore=0.579;CADD_phred=24.0;DANN_score=0.994;DANN_rankscore=0.637;fathmm-MKL_coding_score=0.954;fathmm-MKL_coding_rankscore=0.644;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.098;Eigen-PC-raw=0.271;GenoCanyon_score=0.825;GenoCanyon_score_rankscore=0.246;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=5.39;GERP++_RS_rankscore=0.775;phyloP100way_vertebrate=4.265;phyloP100way_vertebrate_rankscore=0.584;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=12.502;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=8.326e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=6.021e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0003;AF_popmax=0.0002;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=0.0002;AF_fin=0.0014;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=0.0005;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\x3d99.934906;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-480.739,0,-346.13:322:139:183:6671:5098 . . +chr1 237789101 . T C 2756.97 . AB=0.459559;ABP=6.87424;AC=1;AF=0.5;AN=2;AO=125;CIGAR=1X;DP=272;DPB=272;DPRA=0;EPP=3.44459;EPPR=8.95954;GTI=0;LEN=1;MEANALT=2;MQM=41.68;MQMR=41.3356;NS=1;NUMALT=1;ODDS=634.815;PAIRED=0.992;PAIREDR=0.972603;PAO=0;PQA=0;PQR=0;PRO=0;QA=4382;QR=5245;RO=146;RPL=107;RPP=140.612;RPPR=118.188;RPR=18;RUN=1;SAF=53;SAP=9.28151;SAR=72;SF=7;SRF=60;SRP=13.0645;SRR=86;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon40:c.T6163C:p.S2055P;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs746490469;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;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=0.061;LRT_converted_rankscore=0.222;LRT_pred=U;MutationTaster_score=0.654;MutationTaster_converted_rankscore=0.305;MutationTaster_pred=N;MutationAssessor_score=-1.15;MutationAssessor_score_rankscore=0.009;MutationAssessor_pred=N;FATHMM_score=-0.73;FATHMM_converted_rankscore=0.731;FATHMM_pred=T;PROVEAN_score=3.37;PROVEAN_converted_rankscore=0.001;PROVEAN_pred=N;VEST3_score=0.112;VEST3_rankscore=0.340;MetaSVM_score=-0.896;MetaSVM_rankscore=0.484;MetaSVM_pred=T;MetaLR_score=0.052;MetaLR_rankscore=0.220;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.549;M-CAP_pred=D;REVEL_score=0.178;REVEL_rankscore=0.452;MutPred_score=0.244;MutPred_rankscore=0.179;CADD_raw=1.290;CADD_raw_rankscore=0.220;CADD_phred=12.21;DANN_score=0.384;DANN_rankscore=0.026;fathmm-MKL_coding_score=0.631;fathmm-MKL_coding_rankscore=0.317;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.753;Eigen-PC-raw=-0.419;GenoCanyon_score=0.002;GenoCanyon_score_rankscore=0.092;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.35;GERP++_RS_rankscore=0.513;phyloP100way_vertebrate=1.233;phyloP100way_vertebrate_rankscore=0.320;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=6.593;SiPhy_29way_logOdds_rankscore=0.217;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.005e-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=6.338e-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=6.5e-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\x3d99.899137;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-298.576,0,-368.293:272:146:125:4382:5245 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 237801770 . T C 5581.30 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=163;CIGAR=1X;DP=6437;DPB=163;DPRA=0;EPP=5.2617;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8773;MQMR=0;NS=1;NUMALT=1;ODDS=230.571;PAIRED=0.993865;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6118;QR=0;RO=0;RPL=83;RPP=3.1302;RPPR=0;RPR=80;RUN=1;SAF=82;SAP=3.02362;SAR=81;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-527.328,-49.0679,0:163:0:163:6118:0:0,163 1/1:-227.321,-20.7711,0:69:0:69:2633:0 1/1:-479.033,-45.4555,0:151:0:151:5549:0 1/1:-493.133,-45.7566,0:152:0:152:5730:0:0,152 1/1:-520.566,-49.0679,0:164:0:163:6045:0 1/1:-737.429,-68.3338,0:227:0:227:8565:0:0,227 1/1:-512.021,-46.9607,0:156:0:156:5929:0:0,156 1/1:-722.67,-66.1328,0:225:1:224:8406:16 1/1:-385.823,-35.2205,0:117:0:117:4469:0 1/1:-415.487,-39.1339,0:130:0:130:4809:0:0,130 1/1:-535.465,-49.971,0:168:0:166:6216:0:0,166 1/1:-862.116,-81.2781,0:270:0:270:9977:0 1/1:-748.064,-68.9359,0:229:0:229:8714:0:0,229 1/1:-648.766,-60.206,0:200:0:200:7510:0 1/1:-379.638,-35.2205,0:117:0:117:4397:0 1/1:-622.349,-58.3998,0:194:0:194:7235:0 1/1:-581.637,-53.2823,0:177:0:177:6759:0:0,177 1/1:-644.203,-59.6039,0:199:0:198:7481:0 1/1:-433.895,-40.338,0:134:0:134:5021:0 1/1:-520.14,-47.8638,0:159:0:159:6033:0 1/1:-603.836,-55.6906,0:185:0:185:7013:0:0,185 1/1:-416.722,-39.1339,0:130:0:130:4843:0:0,130 1/1:-438.283,-40.9401,0:136:0:136:5069:0 1/1:-622.118,-56.5936,0:188:0:188:7228:0 1/1:-362.979,-33.4143,0:111:0:111:4205:0:0,111 1/1:-994.764,-92.4162,0:308:0:307:11538:0:0,307 1/1:-793.19,-73.4513,0:244:0:244:9175:0 1/1:-700.063,-65.3235,0:218:0:217:8131:0:0,217 1/1:-412.575,-38.8329,0:129:0:129:4788:0 1/1:-882.675,-83.3853,0:277:0:277:10235:0 1/1:-564.884,-52.9813,0:176:0:176:6546:0 1/1:-609.82,-56.8947,0:189:0:189:7058:0 1/1:-470.886,-43.9504,0:146:0:146:5463:0 1/1:-498.891,-46.0576,0:153:0:153:5782:0 1/1:-501.53,-46.6597,0:155:0:155:5852:0 1/1:-346.15,-32.2102,0:107:0:107:4007:0 1/1:-593.371,-55.3895,0:184:0:184:6887:0 +chr1 237802395 . G C 6631.82 . AB=0.558696;ABP=16.7755;AC=1;AF=0.5;AN=2;AO=257;CIGAR=1X;DP=460;DPB=460;DPRA=0;EPP=55.7424;EPPR=55.6846;GTI=0;LEN=1;MEANALT=2;MQM=41.642;MQMR=41.9901;NS=1;NUMALT=1;ODDS=1160.69;PAIRED=0.996109;PAIREDR=0.99505;PAO=0;PQA=0;PQR=0;PRO=0;QA=9490;QR=7705;RO=202;RPL=98;RPP=34.4502;RPPR=71.8094;RPR=159;RUN=1;SAF=107;SAP=18.6331;SAR=150;SF=23;SRF=83;SRP=16.9421;SRR=119;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon46:c.G7009C:p.G2337R;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=447923;CLNDN=Catecholaminergic_polymorphic_ventricular_tachycardia;CLNDISDB=MedGen:C1631597,Orphanet:ORPHA3286;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_pathogenic;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=2.67;MutationAssessor_score_rankscore=0.784;MutationAssessor_pred=M;FATHMM_score=-5.0;FATHMM_converted_rankscore=0.985;FATHMM_pred=D;PROVEAN_score=-7.32;PROVEAN_converted_rankscore=0.945;PROVEAN_pred=D;VEST3_score=0.821;VEST3_rankscore=0.834;MetaSVM_score=1.101;MetaSVM_rankscore=0.997;MetaSVM_pred=D;MetaLR_score=0.968;MetaLR_rankscore=0.990;MetaLR_pred=D;M-CAP_score=0.890;M-CAP_rankscore=0.992;M-CAP_pred=D;REVEL_score=0.909;REVEL_rankscore=0.976;MutPred_score=0.431;MutPred_rankscore=0.481;CADD_raw=6.802;CADD_raw_rankscore=0.925;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.999;fathmm-MKL_coding_score=0.990;fathmm-MKL_coding_rankscore=0.895;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.919;Eigen-PC-raw=0.854;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=4.81;GERP++_RS_rankscore=0.613;phyloP100way_vertebrate=8.016;phyloP100way_vertebrate_rankscore=0.882;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=18.239;SiPhy_29way_logOdds_rankscore=0.899;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.872901;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-682.016,0,-526.473:460:202:257:9490:7705 . . . . . . . . . . . . . +chr1 237811766 . C T 1781.11 . AB=0.47973;ABP=3.5385;AC=1;AF=0.5;AN=2;AO=71;CIGAR=1X;DP=148;DPB=148;DPRA=0;EPP=6.71098;EPPR=3.71532;GTI=0;LEN=1;MEANALT=1;MQM=41.7465;MQMR=41.974;NS=1;NUMALT=1;ODDS=410.116;PAIRED=0.971831;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2677;QR=2824;RO=77;RPL=24;RPP=19.1893;RPPR=6.42261;RPR=47;RUN=1;SAF=37;SAP=3.28556;SAR=34;SF=34;SRF=46;SRP=9.35551;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-186.44,0,-200.029:148:77:71:2677:2824 . . +chr1 237814783 . C T 2187.74 . AB=0.5;ABP=3.0103;AC=35;AF=0.5;AN=56;AO=69;CIGAR=1X;DP=3743;DPB=138;DPRA=0;EPP=12.1053;EPPR=3.79707;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=383.647;PAIRED=1;PAIREDR=0.971014;PAO=0;PQA=0;PQR=0;PRO=0;QA=2667;QR=2519;RO=69;RPL=29;RPP=6.81824;RPPR=37.2818;RPR=40;RUN=1;SAF=42;SAP=10.0912;SAR=27;SF=0,1,2,4,5,6,9,11,14,15,16,17,18,19,20,21,22,23,24,26,28,29,30,32,33,34,35,36;SRF=43;SRP=12.1053;SRR=26;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-188.453,0,-177.341:138:69:69:2667:2519:69,69 0/1:-53.8582,0,-109.286:61:39:22:834:1471 0/1:-122.261,0,-215.029:130:80:50:1869:2944 . 0/1:-163.682,0,-169.558:126:65:61:2334:2410 0/1:-153.904,0,-235.468:148:88:60:2301:3235:88,60 0/1:-171.929,0,-170.903:129:64:64:2436:2422:64,64 . . 0/1:-106.826,0,-164.874:106:62:44:1602:2264:62,44 . 0/1:-278.617,0,-349.635:241:132:109:4077:4868 . . 1/1:-392.469,-35.8226,0:119:0:119:4549:0 0/1:-176.838,0,-185.132:138:70:68:2527:2632 0/1:-193.736,0,-149.787:129:58:71:2708:2193:58,71 1/1:-463.876,-43.0473,0:143:0:143:5407:0 0/1:-129.417,0,-95.9329:86:38:48:1818:1402 0/1:-168.704,0,-131.052:114:52:62:2350:1906 1/1:-511.929,-46.6597,0:155:0:155:5936:0:0,155 0/1:-141.717,0,-156.762:116:62:54:2044:2201:62,54 0/1:-165.258,0,-180.208:135:71:64:2380:2543 0/1:-193.182,0,-192.974:149:75:74:2764:2743 1/1:-195.075,-18.0618,0:60:0:60:2255:0:0,60 . 1/1:-604.525,-58.7009,0:195:0:195:7013:0 . 0/1:-232.795,0,-192.254:163:76:87:3260:2793 0/1:-200.553,0,-378.685:226:142:84:3124:5166 0/1:-141.21,0,-215.077:136:81:55:2108:2953 . 1/1:-419.748,-38.8329,0:129:0:129:4864:0 1/1:-375.037,-34.3174,0:114:0:114:4346:0 0/1:-157.292,0,-190.285:131:70:61:2276:2652 0/1:-45.7942,0,-120.077:63:43:20:746:1601 0/1:-200.498,0,-230.398:163:87:76:2891:3227 +chr1 237823256 . A C 1337.55 . AB=0.505747;ABP=3.03526;AC=5;AF=0.5;AN=10;AO=44;CIGAR=1X;DP=554;DPB=87;DPRA=0;EPP=36.372;EPPR=7.10075;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9535;NS=1;NUMALT=1;ODDS=236.023;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1604;QR=1615;RO=43;RPL=15;RPP=12.6832;RPPR=9.12072;RPR=29;RUN=1;SAF=22;SAP=3.0103;SAR=22;SF=6,13,19,20,24;SRF=23;SRP=3.46479;SRR=20;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-112.776,0,-113.759:87:43:44:1604:1615:43,44 . . . . . . 0/1:-198.704,0,-250.612:178:95:81:2914:3532 . . . . . 0/1:-137.944,0,-99.2015:90:39:51:1907:1459 0/1:-175.395,0,-164.485:128:62:65:2478:2345:62,65 . . . 0/1:-96.4991,0,-89.2977:71:34:37:1374:1276:34,37 . . . . . . . . . . . . +chr1 237829952 . G A 511.83 . AB=0.436364;ABP=4.94488;AC=1;AF=0.5;AN=2;AO=24;CIGAR=1X;DP=55;DPB=55;DPRA=0;EPP=12.0581;EPPR=18.771;GTI=0;LEN=1;MEANALT=1;MQM=40.4167;MQMR=42;NS=1;NUMALT=1;ODDS=117.854;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=901;QR=1171;RO=31;RPL=19;RPP=20.744;RPPR=28.2974;RPR=5;RUN=1;SAF=12;SAP=3.0103;SAR=12;SF=18;SRF=17;SRP=3.64073;SRR=14;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-59.4184,0,-85.0396:55:31:24:901:1171 . . . . . . . . . . . . . . . . . . +chr1 237841390 . A G 3535.31 . AB=0.461538;ABP=5.01474;AC=20;AF=0.5;AN=32;AO=72;CIGAR=1X;DP=3085;DPB=156;DPRA=0;EPP=30.1537;EPPR=16.8502;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=411.291;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2718;QR=3189;RO=83;RPL=32;RPP=4.9405;RPPR=22.0826;RPR=40;RUN=1;SAF=33;SAP=4.09604;SAR=39;SF=0,2,3,5,8,9,10,12,13,15,25,27,28,32,34,35;SRF=40;SRP=3.24576;SRR=43;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-188.125,0,-228.125:156:83:72:2718:3189:83,72 . 0/1:-250.308,0,-225.461:182:86:96:3529:3257 0/1:-285.874,0,-231.377:193:88:105:3996:3351:88,105 . 0/1:-288.57,0,-249.808:204:96:107:4052:3617:96,107 . . 0/1:-245.512,0,-140.146:144:56:88:3342:2122 0/1:-157.696,0,-179.278:131:67:64:2337:2531:67,64 0/1:-229.636,0,-254.93:184:95:89:3299:3602:95,89 . 0/1:-332.99,0,-309.301:243:116:126:4715:4428:116,126 1/1:-892.998,-83.3853,0:277:0:277:10361:0 . 0/1:-253.016,0,-191.158:170:75:95:3523:2805 . . . . . . . . . 1/1:-1093.88,-102.651,0:341:0:341:12697:0:0,341 . 0/1:-312.119,0,-418.01:278:154:124:4600:5869:154,124 0/1:-207.046,0,-199.099:156:77:79:2948:2844 . . . 0/1:-223.853,0,-230.295:167:84:83:3175:3256 . 1/1:-560.244,-52.3792,0:174:0:174:6483:0 1/1:-271.368,-25.5876,0:85:0:85:3135:0 . +chr1 237850716 . C T 657.42 . AB=0.401709;ABP=12.8283;AC=1;AF=0.5;AN=2;AO=47;CIGAR=1X;DP=117;DPB=117;DPRA=0;EPP=23.3852;EPPR=27.3308;GTI=0;LEN=1;MEANALT=1;MQM=40.1702;MQMR=39.3429;NS=1;NUMALT=1;ODDS=151.377;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1279;QR=2087;RO=70;RPL=18;RPP=8.60069;RPPR=9.09042;RPR=29;RUN=1;SAF=29;SAP=8.60069;SAR=18;SF=13;SRF=45;SRP=15.4187;SRR=25;TYPE=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=rs190942713;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0049;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0097;ExAC_nontcga_OTH=0.0099;ExAC_nontcga_SAS=0.0013;AF=0.0028;AF_popmax=0.0084;AF_male=0.0031;AF_female=0.0024;AF_raw=0.0028;AF_afr=0.0007;AF_sas=.;AF_amr=0.0084;AF_eas=0;AF_nfe=0.0040;AF_fin=0;AF_asj=0.0140;AF_oth=0.0055;non_topmed_AF_popmax=0.0089;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.0014;Kaviar_AF=0.0031565;Kaviar_AC=488;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000391365|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.864479;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-75.8323,0,-144.746:117:70:47:1279:2087 . . . . . . . . . . . . . . . . . . . . . . . +chr1 237863718 . T G 8207.80 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=281;CIGAR=1X;DP=10409;DPB=287;DPRA=0;EPP=3.01803;EPPR=7.35324;GTI=0;LEN=1;MEANALT=3;MQM=41.0214;MQMR=24;NS=1;NUMALT=1;ODDS=384.124;PAIRED=0.989324;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9965;QR=32;RO=2;RPL=202;RPP=119.922;RPPR=7.35324;RPR=79;RUN=1;SAF=121;SAP=14.7641;SAR=160;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-851.813,-82.4263,0:287:2:281:9965:32:2,281 1/1:-342.089,-32.801,0:116:1:114:3995:20 1/1:-703.301,-67.5245,0:243:3:236:8193:50 1/1:-763.114,-73.0868,0:254:2:250:8898:32:2,250 1/1:-962.692,-91.8391,0:324:2:318:11210:50 1/1:-1022.49,-90.9067,0:348:8:335:12008:146:8,335 1/1:-679.508,-66.6119,0:228:1:225:7915:16:1,225 1/1:-1058.97,-105.919,0:370:2:357:12368:45 1/1:-576.08,-56.3565,0:196:1:191:6762:16 1/1:-702.399,-68.0044,0:232:1:230:8127:17:1,230 1/1:-712.84,-65.9776,0:245:4:238:8335:77:4,238 1/1:-1175.74,-117.35,0:404:3:397:13706:48 1/1:-1263.32,-115.44,0:425:6:411:14722:113:6,411 1/1:-1216.73,-117.208,0:408:3:401:14142:49 1/1:-632.752,-57.7712,0:211:3:207:7370:61 1/1:-954.497,-92.2726,0:327:4:318:11254:66 1/1:-979.843,-87.5284,0:335:5:322:11508:155:5,322 1/1:-970.396,-94.5907,0:329:2:324:11355:44 1/1:-436.664,-42.3277,0:149:1:145:5045:18 1/1:-914.194,-87.3294,0:303:2:298:10691:33 1/1:-1151.36,-109.333,0:390:4:376:13451:64:4,376 1/1:-524.436,-52.1565,0:180:1:177:6036:16:1,177 1/1:-563.325,-53.4615,0:188:2:186:6527:33 1/1:-954.224,-86.2114,0:322:5:310:11135:96 1/1:-322.767,-32.8123,0:109:0:109:3748:0:0,109 1/1:-1595.55,-153.056,0:524:2:516:18475:32:2,516 1/1:-971.287,-97.8104,0:345:3:336:11277:48 1/1:-1226.68,-117.12,0:419:6:407:14335:95:6,407 1/1:-665.625,-65.0225,0:218:0:216:7678:0 1/1:-1334.71,-128.573,0:446:3:439:15502:51 1/1:-752.968,-73.1503,0:247:0:243:8756:0 1/1:-540.078,-53.558,0:188:1:182:6242:17 1/1:-640.35,-62.3815,0:215:1:211:7506:16 1/1:-643.447,-61.4936,0:222:3:213:7543:62 1/1:-688.305,-66.801,0:232:2:230:8000:32 1/1:-412.274,-40.6243,0:144:1:140:4859:20 1/1:-847.554,-82.4572,0:286:1:278:9870:17 +chr1 237872887 . T C 2328.07 . AB=0.510638;ABP=3.19511;AC=3;AF=0.5;AN=6;AO=96;CIGAR=1X;DP=558;DPB=188;DPRA=0;EPP=6.26751;EPPR=6.40913;GTI=0;LEN=1;MEANALT=1;MQM=41.5625;MQMR=42;NS=1;NUMALT=1;ODDS=526.889;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3633;QR=3465;RO=92;RPL=61;RPP=18.3011;RPPR=71.8365;RPR=35;RUN=1;SAF=43;SAP=5.27225;SAR=53;SF=0,17,31;SRF=45;SRP=3.10471;SRR=47;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-255.736,0,-242.923:188:92:96:3633:3465:92,96 . . . . . . . . . . . . . . . . 0/1:-284.287,0,-359.368:245:134:111:4138:5014 . . . . . . . . . . . . . 0/1:-185.473,0,-138.354:125:55:70:2595:2055 . . . . . +chr1 237875068 . C T 1182.71 . AB=0.51087;ABP=3.10471;AC=1;AF=0.5;AN=2;AO=47;CIGAR=1X;DP=92;DPB=92;DPRA=0;EPP=6.75262;EPPR=4.21667;GTI=0;LEN=1;MEANALT=1;MQM=41.9149;MQMR=42;NS=1;NUMALT=1;ODDS=256.24;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1760;QR=1673;RO=45;RPL=28;RPP=6.75262;RPPR=6.91895;RPR=19;RUN=1;SAF=25;SAP=3.42611;SAR=22;SF=14;SRF=26;SRP=5.37479;SRR=19;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-124.948,0,-117.891:92:45:47:1760:1673 . . . . . . . . . . . . . . . . . . . . . . +chr1 237881770 . C T 3763.63 . AB=0;ABP=0;AC=73;AF=1;AN=74;AO=114;CIGAR=1X;DP=4528;DPB=114;DPRA=0;EPP=3.08649;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=162.643;PAIRED=0.982456;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4326;QR=0;RO=0;RPL=42;RPP=20.1535;RPPR=0;RPR=72;RUN=1;SAF=60;SAP=3.69603;SAR=54;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-373.72,-34.3174,0:114:0:114:4326:0:0,114 1/1:-154.119,-14.1484,0:47:0:47:1784:0 1/1:-334.504,-31.0061,0:104:0:103:3868:0 1/1:-367.64,-34.0164,0:113:0:113:4259:0:0,113 1/1:-404.734,-37.0267,0:123:0:123:4689:0 1/1:-451.329,-41.8432,0:140:0:139:5228:0:0,139 1/1:-362.96,-34.0164,0:113:0:113:4192:0:0,113 1/1:-450.866,-42.7463,0:142:0:142:5260:0 1/1:-335.596,-31.6082,0:105:0:105:3878:0 1/1:-235.232,-21.9752,0:73:0:73:2747:0:0,73 1/1:-337.54,-31.9092,0:106:0:106:3900:0:0,106 1/1:-583.333,-54.7875,0:182:0:182:6752:0 1/1:-496.232,-46.9607,0:156:0:156:5780:0:0,156 1/1:-673.099,-64.4204,0:214:0:214:7808:0 1/1:-287.007,-27.0927,0:90:0:90:3317:0 1/1:-467.809,-43.6494,0:145:0:145:5416:0 1/1:-297.05,-27.6948,0:92:0:92:3433:0:0,92 1/1:-367.557,-34.0164,0:113:0:113:4270:0 1/1:-282.528,-23.0681,0:89:1:88:3340:39 1/1:-365.154,-33.7154,0:113:0:112:4243:0 1/1:-461.298,-41.8432,0:139:0:139:5353:0:0,139 1/1:-285.924,-27.3937,0:91:0:91:3297:0:0,91 1/1:-365.083,-34.3174,0:114:0:114:4216:0 1/1:-407.31,-37.6288,0:125:0:125:4709:0 1/1:-273.171,-24.9855,0:83:0:83:3158:0:0,83 1/1:-720.212,-66.5276,0:221:0:221:8336:0:0,221 1/1:-619.24,-59.3029,0:198:0:197:7193:0 0/1:-224.838,0,-271.484:194:105:89:3270:3804:105,89 1/1:-273.862,-25.8886,0:86:0:86:3159:0 1/1:-576.479,-55.3895,0:184:0:184:6671:0 1/1:-396.184,-35.4278,0:123:1:122:4629:16 1/1:-370.23,-35.5215,0:118:0:118:4281:0 1/1:-378.164,-34.9195,0:116:0:116:4375:0 1/1:-250.968,-23.4803,0:78:0:78:2898:0 1/1:-358.943,-33.7154,0:112:0:112:4177:0 1/1:-228.901,-20.7711,0:70:0:69:2653:0 1/1:-317.953,-28.4809,0:102:1:101:3727:27 +chr1 237890437 . C T 2922.43 . AB=0;ABP=0;AC=73;AF=1;AN=74;AO=92;CIGAR=1X;DP=3546;DPB=92;DPRA=0;EPP=48.7056;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=132.144;PAIRED=0.98913;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3484;QR=0;RO=0;RPL=46;RPP=3.0103;RPPR=0;RPR=46;RUN=1;SAF=44;SAP=3.38795;SAR=48;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-301.469,-27.6948,0:92:0:92:3484:0:0,92 1/1:-122.716,-8.31762,0:40:1:39:1458:39 1/1:-286.496,-27.3937,0:91:0:91:3367:0 1/1:-349.176,-32.2102,0:107:0:107:4033:0:0,107 1/1:-223.107,-20.7711,0:69:0:69:2575:0 1/1:-374.647,-34.9195,0:116:0:116:4335:0:0,116 1/1:-233.331,-21.6742,0:72:0:72:2692:0:0,72 1/1:-405.887,-38.2308,0:127:0:127:4689:0 1/1:-277.681,-25.8886,0:86:0:86:3215:0 1/1:-243.359,-22.2762,0:74:0:74:2832:0:0,74 1/1:-303.51,-28.5979,0:96:0:95:3508:0:0,95 1/1:-444.161,-41.5421,0:138:0:138:5132:0 1/1:-445.879,-40.9401,0:136:0:136:5163:0:0,136 1/1:-407.226,-38.2308,0:127:0:127:4720:0 1/1:-210.778,-20.169,0:67:0:67:2432:0 1/1:-313.781,-29.1999,0:97:0:97:3627:0 1/1:-301.319,-27.9958,0:93:0:93:3484:0:0,93 1/1:-420.068,-38.8329,0:129:0:129:4873:0 1/1:-161.409,-15.0515,0:50:0:50:1863:0 1/1:-292.233,-27.9958,0:93:0:93:3375:0 1/1:-315.008,-29.802,0:99:0:99:3661:0:0,99 1/1:-205.248,-18.9649,0:64:0:63:2372:0:0,63 1/1:-265.831,-23.5685,0:85:1:83:3092:19 1/1:-295.433,-27.0927,0:90:0:90:3415:0 1/1:-191.33,-17.7608,0:59:0:59:2207:0:0,59 1/1:-464.125,-42.6531,0:147:1:146:5375:16:1,146 1/1:-419.356,-38.7412,0:135:1:134:4866:19 0/1:-192.015,0,-202.065:153:79:74:2745:2863:79,74 1/1:-257.552,-24.0824,0:82:0:80:2976:0 1/1:-579.448,-53.8844,0:180:0:179:6701:0 1/1:-263.423,-24.2371,0:85:1:84:3056:14 1/1:-213.595,-20.47,0:68:0:68:2472:0 1/1:-241.566,-22.5773,0:75:0:75:2832:0 1/1:-255.044,-23.7814,0:79:0:79:2948:0 1/1:-256.582,-24.3834,0:81:0:81:3009:0 1/1:-174.443,-16.2556,0:54:0:54:2014:0 1/1:-360.14,-33.1133,0:110:0:110:4165:0 +chr1 237893674 . C T 4858.74 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=164;CIGAR=1X;DP=5926;DPB=164;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9878;MQMR=0;NS=1;NUMALT=1;ODDS=231.957;PAIRED=0.993902;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6162;QR=0;RO=0;RPL=136;RPP=157.45;RPPR=0;RPR=28;RUN=1;SAF=54;SAP=44.5331;SAR=110;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-533.503,-49.3689,0:164:0:164:6162:0:0,164 1/1:-262.712,-24.9855,0:84:0:83:3031:0 1/1:-453.785,-43.3483,0:144:0:144:5228:0 1/1:-339.299,-31.9092,0:108:0:106:3917:0:0,106 1/1:-463.76,-43.3483,0:145:0:144:5362:0 1/1:-588.598,-55.0885,0:183:0:183:6799:0:0,183 1/1:-398.051,-37.9298,0:126:0:126:4583:0:0,126 1/1:-435.363,-40.6391,0:136:0:135:5053:0 1/1:-306.865,-28.5979,0:96:0:95:3555:0 1/1:-315.148,-30.103,0:100:0:100:3632:0:0,100 1/1:-450.998,-43.0473,0:143:0:143:5217:0:0,143 1/1:-694.974,-65.6245,0:218:0:218:8037:0 1/1:-711.611,-66.5276,0:221:0:221:8230:0:0,221 1/1:-736.208,-69.2369,0:230:0:230:8500:0 1/1:-430.932,-40.338,0:134:0:134:4971:0 1/1:-536.199,-50.272,0:167:0:167:6208:0 1/1:-427.658,-39.736,0:132:0:132:4945:0:0,132 1/1:-574.086,-54.1854,0:181:0:180:6649:0 1/1:-350.305,-33.4143,0:111:0:111:4036:0 1/1:-519.868,-49.0679,0:163:0:163:6000:0 1/1:-637.657,-59.3029,0:197:0:197:7385:0:0,197 1/1:-338.414,-31.214,0:109:1:108:3933:16:1,108 1/1:-381.239,-36.1236,0:120:0:120:4396:0 1/1:-610.113,-57.4967,0:191:0:191:7048:0 1/1:-277.131,-26.1896,0:87:0:87:3204:0:0,87 1/1:-969.369,-92.1152,0:307:0:306:11221:0:0,306 1/1:-726.159,-68.9864,0:238:2:236:8476:28 1/1:-842.45,-79.773,0:266:0:265:9715:0:0,265 1/1:-420.638,-38.9387,0:134:1:133:4867:14 1/1:-814.831,-76.9699,0:261:1:260:9436:16 1/1:-412.311,-38.8329,0:130:0:129:4759:0 1/1:-512.959,-48.4658,0:161:0:161:5921:0 1/1:-550.041,-51.1751,0:170:0:170:6350:0 1/1:-411.34,-38.5318,0:128:0:128:4749:0 1/1:-522.448,-49.0679,0:163:0:163:6026:0 1/1:-282.637,-26.4906,0:88:0:88:3261:0 1/1:-604.977,-57.1957,0:190:0:190:7000:0 +chr1 237905568 . TCCTTTTTTTTTTTTTTTAAATATACA TCCCTTTTTTTTTTTTTTTAAATATACA,TCCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTTTAAATATACA 460.34 . AB=0.232143;ABP=37.909;AC=15,1,1,1;AF=0.5;AN=32;AO=13;CIGAR=1M1I4M;DP=1154;DPB=59;DPRA=0;EPP=4.51363;EPPR=3.12459;GTI=0;LEN=1;MEANALT=15;MQM=38.8462;MQMR=41.5789;NS=1;NUMALT=1;ODDS=36.1098;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=360;QR=613;RO=19;RPL=6;RPP=3.17734;RPPR=3.12459;RPR=7;RUN=1;SAF=10;SAP=11.1951;SAR=3;SF=0,6,8,9,10,13,15,20,23,24,25,26,27,32,34,35;SRF=12;SRP=5.8675;SRR=7;TYPE=ins;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3753630;CLNALLELEID=249832;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1665;ExAC_nontcga_AFR=0.1197;ExAC_nontcga_AMR=0.2;ExAC_nontcga_EAS=0.1143;ExAC_nontcga_FIN=0.1190;ExAC_nontcga_NFE=0.1477;ExAC_nontcga_OTH=0.1176;ExAC_nontcga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GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-44.0123,.,.,.,.,.,.,.,.,.,.,.,.:56:19:13,.,.,.:360,.,.,.:613:19,13 . . . . . 0/1:-19.5114,0,-21.6141,.,.,.,.,.,.,.,.,.,.,.,.:52:10:11,.,.,.:352,.,.,.:342:10,11 . 0/1:.,.,-13.4816,.,.,.,.,.,.,.,.,.,.,.,.:36:10:21,.,.,.:652,.,.,.:262 1/4:-31.8468,-8.27494,-7.54943,.,.,.,.,.,.,.,-21.2928,0,.,.,-22.3713:41:3:13,.,.,7:379,.,.,212:97:3,13,7 0/1:-36.2463,0,-9.45777,.,.,.,.,.,.,.,.,.,.,.,.:63:8:19,.,.,.:589,.,.,.:278:8,19 . . 0/1:.,.,-64.3914,.,.,.,.,.,.,.,.,.,.,.,.:77:32:34,.,.,.:1009,.,.,.:1023 . 0/1:.,.,-88.5956,.,.,.,.,.,.,.,.,.,.,.,.:87:41:28,.,.,.:885,.,.,.:1292 . . . . 0/3:-20.6523,.,.,.,.,.,0,.,.,-68.5702,.,.,.,.,.:77:28:.,.,14,.:.,.,448,.:998:28,14 . . 0/1:.,.,-38.6459,.,.,.,.,.,.,.,.,.,.,.,.:40:19:18,.,.,.:559,.,.,.:569 0/1:-14.805,0,-44.6495,.,.,.,.,.,.,.,.,.,.,.,.:47:18:9,.,.,.:288,.,.,.:635:18,9 1/2:-212.528,-67.9566,-47.0452,-146.849,0,-137.376,.,.,.,.,.,.,.,.,.:145:4:66,28,.,.:2049,1008,.,.:139:4,66,28 0/1:.,.,-138.289,.,.,.,.,.,.,.,.,.,.,.,.:118:64:35,.,.,.:1023,.,.,.:2014 0/1:-67.5955,0,-105.045,.,.,.,.,.,.,.,.,.,.,.,.:169:46:37,.,.,.:1143,.,.,.:1602:46,37 . . . . 0/1:.,.,-21.8982,.,.,.,.,.,.,.,.,.,.,.,.:56:13:32,.,.,.:1003,.,.,.:422 . 0/1:.,.,-35.0066,.,.,.,.,.,.,.,.,.,.,.,.:46:18:21,.,.,.:617,.,.,.:549 0/1:.,.,-19.683,.,.,.,.,.,.,.,.,.,.,.,.:44:12:27,.,.,.:788,.,.,.:360 . +chr1 237905570 . CTTTTTTTTTTTTTTTAAATATACA CTTTTTTTTTTTTTTTTAAATATACA,CTTTTTTTTTTTTTTAAATATACA 182.14 . AB=0.348485;ABP=16.1707;AC=7,5;AF=0.5;AN=24;AO=23;CIGAR=1M1I16M;DP=905;DPB=73.7059;DPRA=0;EPP=7.63648;EPPR=3.17734;GTI=0;LEN=1;MEANALT=9;MQM=37.913;MQMR=36.0769;NS=1;NUMALT=1;ODDS=32.123;PAIRED=1;PAIREDR=0.846154;PAO=5;PQA=174;PQR=174;PRO=5;QA=739;QR=467;RO=13;RPL=11;RPP=3.10471;RPPR=4.51363;RPR=12;RUN=1;SAF=18;SAP=18.9659;SAR=5;SF=2,3,4,12,16,17,19,21,22,30,33,36;SRF=9;SRP=7.18621;SRR=4;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs730882115;CLNALLELEID=172569;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=0.0825;ExAC_nontcga_AFR=0.0892;ExAC_nontcga_AMR=0.0871;ExAC_nontcga_EAS=0.0597;ExAC_nontcga_FIN=0.0834;ExAC_nontcga_NFE=0.0821;ExAC_nontcga_OTH=0.0714;ExAC_nontcga_SAS=0.0823;AF=0.0643;AF_popmax=0.0853;AF_male=0.0662;AF_female=0.0618;AF_raw=0.0586;AF_afr=0.0396;AF_sas=.;AF_amr=0.0853;AF_eas=0.0484;AF_nfe=0.0806;AF_fin=0.0521;AF_asj=0.0773;AF_oth=0.0680;non_topmed_AF_popmax=0.0829;non_neuro_AF_popmax=0.0802;non_cancer_AF_popmax=.;controls_AF_popmax=0.0811;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=.;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=rs397516499;CLNALLELEID=52872;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=0.3114;ExAC_nontcga_AFR=0.3128;ExAC_nontcga_AMR=0.2803;ExAC_nontcga_EAS=0.3246;ExAC_nontcga_FIN=0.2743;ExAC_nontcga_NFE=0.2767;ExAC_nontcga_OTH=0.3052;ExAC_nontcga_SAS=0.3442;AF=0.0125;AF_popmax=0.0553;AF_male=0.0127;AF_female=0.0124;AF_raw=0.0211;AF_afr=0.0055;AF_sas=.;AF_amr=0.0553;AF_eas=0.0014;AF_nfe=0.0104;AF_fin=0.0773;AF_asj=0.0227;AF_oth=0.0212;non_topmed_AF_popmax=0.0553;non_neuro_AF_popmax=0.0357;non_cancer_AF_popmax=.;controls_AF_popmax=0.1757;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:.,.,-19.9659,.,.,.:66:13:23,.:739,.:467 0/2:-15.6767,.,.,0,.,-123.422:86:46:.,13:.,404:1653:46,13 0/1:.,.,-80.6315,.,.,.:73:32:17,.:500,.:1169 . . . . . . . 0/2:-16.2124,.,.,0,.,-144.97:106:55:.,12:.,434:1947:55,12 . . . 0/1:-18.5197,0,-126.018,.,.,.:89:48:14,.:440,.:1690:48,14 0/2:.,.,.,.,.,-96.543:66:37:.,14:.,386:1348 . 0/1:.,.,-82.9237,.,.,.:72:34:20,.:595,.:1244 . 0/2:-23.3724,.,.,0,.,-50.2675:60:21:.,12:.,391:709:21,12 0/2:.,.,.,.,.,-85.391:80:39:.,18:.,553:1349 . . . . . . . 0/1:.,.,-67.0256,.,.,.:64:27:15,.:517,.:944 . . 0/1:.,.,-52.8843,.,.,.:53:23:13,.:413,.:834 . . 0/1:.,.,-67.6362,.,.,.:90:27:26,.:738,.:981 +chr1 237905571 . T C 289.54 . AB=0.34;ABP=14.1282;AC=1;AF=0.5;AN=2;AO=17;CIGAR=1X;DP=50;DPB=50;DPRA=0;EPP=3.13803;EPPR=3.60252;GTI=0;LEN=1;MEANALT=1;MQM=40.8824;MQMR=37.3636;NS=1;NUMALT=1;ODDS=66.6697;PAIRED=0.941176;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=589;QR=1059;RO=33;RPL=8;RPP=3.13803;RPPR=22.0271;RPR=9;RUN=1;SAF=10;SAP=4.1599;SAR=7;SF=34;SRF=21;SRP=8.34028;SRR=12;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3753630;CLNALLELEID=249832;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1665;ExAC_nontcga_AFR=0.1197;ExAC_nontcga_AMR=0.2;ExAC_nontcga_EAS=0.1143;ExAC_nontcga_FIN=0.1190;ExAC_nontcga_NFE=0.1477;ExAC_nontcga_OTH=0.1176;ExAC_nontcga_SAS=0.1908;AF=0.0058;AF_popmax=0.0189;AF_male=0.0057;AF_female=0.0060;AF_raw=0.0091;AF_afr=0.0015;AF_sas=.;AF_amr=0.0189;AF_eas=0;AF_nfe=0.0057;AF_fin=0.0366;AF_asj=0.0155;AF_oth=0.0082;non_topmed_AF_popmax=0.0205;non_neuro_AF_popmax=0.0131;non_cancer_AF_popmax=.;controls_AF_popmax=0.0667;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-35.3045,0,-70.4817:50:33:17:589:1059 . . +chr1 237923053 . C T 4009.68 . AB=0.592814;ABP=15.506;AC=56;AF=0.5;AN=68;AO=99;CIGAR=1X;DP=5458;DPB=167;DPRA=0;EPP=90.0666;EPPR=31.7504;GTI=0;LEN=1;MEANALT=1;MQM=41.798;MQMR=42;NS=1;NUMALT=1;ODDS=352.176;PAIRED=0.959596;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3671;QR=2479;RO=68;RPL=43;RPP=6.71716;RPPR=21.4039;RPR=56;RUN=1;SAF=51;SAP=3.20771;SAR=48;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,26,28,29,30,31,32,33,34,36;SRF=29;SRP=6.20364;SRR=39;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-267.293,0,-165.551:167:68:99:3671:2479:68,99 1/1:-265.229,-24.6845,0:82:0:82:3062:0 1/1:-513.851,-45.4872,0:163:1:162:5978:37 1/1:-442.044,-40.9401,0:136:0:136:5122:0:0,136 1/1:-527.513,-48.7669,0:162:0:162:6104:0 1/1:-650.065,-59.905,0:199:0:199:7523:0:0,199 0/1:-138.334,0,-131.618:107:53:54:1967:1876:53,54 1/1:-595.193,-55.6906,0:185:0:185:6896:0 0/1:-210.308,0,-171.263:148:69:79:2943:2492 1/1:-360.384,-33.7154,0:113:0:112:4167:0:0,112 0/1:-195.066,0,-164.402:139:65:74:2730:2368:65,74 1/1:-925.038,-87.9008,0:292:0:292:10696:0 1/1:-581.352,-54.8546,0:187:1:186:6751:15:1,186 0/1:-305.403,0,-277.487:232:115:117:4363:3980 1/1:-438.462,-41.2411,0:137:0:137:5069:0 0/1:-211.472,0,-231.347:173:89:84:3041:3267 1/1:-571.814,-53.8844,0:180:0:179:6630:0:0,179 1/1:-670.656,-63.5173,0:211:0:211:7783:0 1/1:-353.138,-33.4143,0:111:0:111:4076:0 1/1:-411.304,-39.4349,0:131:0:131:4766:0 1/1:-591.465,-56.2926,0:187:0:187:6844:0:0,187 0/1:-281.754,0,-20.7522:117:18:99:3672:638:18,99 1/1:-409.975,-38.5318,0:129:0:128:4735:0 0/1:-217.481,0,-287.713:195:110:85:3193:3975 0/1:-99.2846,0,-90.9411:74:36:38:1403:1312:36,38 . 0/1:-323.269,0,-249.07:236:106:128:4556:3677 . 1/1:-419.388,-39.736,0:132:0:132:4851:0 1/1:-859.333,-82.7833,0:275:0:275:9970:0 1/1:-432.727,-40.037,0:133:0:133:5000:0 1/1:-444.564,-41.5421,0:138:0:138:5150:0 0/1:-244.331,0,-163.835:161:68:93:3381:2435 1/1:-338.473,-31.9092,0:106:0:106:3910:0 0/1:-198.79,0,-158.265:138:64:74:2779:2294 . 1/1:-579.43,-54.7875,0:182:0:182:6693:0 +chr1 237923081 . G A 953.43 . AB=0.487179;ABP=3.12166;AC=1;AF=0.5;AN=2;AO=38;CIGAR=1X;DP=78;DPB=78;DPRA=0;EPP=17.6392;EPPR=6.48466;GTI=0;LEN=1;MEANALT=1;MQM=41.8947;MQMR=41.1;NS=1;NUMALT=1;ODDS=219.535;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1444;QR=1510;RO=40;RPL=19;RPP=3.0103;RPPR=3.22745;RPR=19;RUN=1;SAF=18;SAP=3.23888;SAR=20;SF=24;SRF=21;SRP=3.22745;SRR=19;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon83:c.G11331A:p.M3777I;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.003;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.067;Polyphen2_HDIV_rankscore=0.263;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.03;Polyphen2_HVAR_rankscore=0.205;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=2.565;MutationAssessor_score_rankscore=0.752;MutationAssessor_pred=M;FATHMM_score=-2.55;FATHMM_converted_rankscore=0.896;FATHMM_pred=D;PROVEAN_score=-3.4;PROVEAN_converted_rankscore=0.670;PROVEAN_pred=D;VEST3_score=0.813;VEST3_rankscore=0.807;MetaSVM_score=0.314;MetaSVM_rankscore=0.878;MetaSVM_pred=D;MetaLR_score=0.699;MetaLR_rankscore=0.896;MetaLR_pred=D;M-CAP_score=0.212;M-CAP_rankscore=0.874;M-CAP_pred=D;REVEL_score=0.701;REVEL_rankscore=0.894;MutPred_score=0.492;MutPred_rankscore=0.579;CADD_raw=4.805;CADD_raw_rankscore=0.645;CADD_phred=24.8;DANN_score=0.991;DANN_rankscore=0.518;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.853;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.383;Eigen-PC-raw=0.514;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.59;GERP++_RS_rankscore=0.846;phyloP100way_vertebrate=9.994;phyloP100way_vertebrate_rankscore=0.993;phyloP20way_mammalian=0.998;phyloP20way_mammalian_rankscore=0.613;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.596;SiPhy_29way_logOdds_rankscore=0.955;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dOREG1880749|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.948570;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-101.608,0,-105.678:78:40:38:1444:1510:40,38 . . . . . . . . . . . . +chr1 237924352 . G A 1609.08 . AB=0.439189;ABP=7.76406;AC=1;AF=0.5;AN=2;AO=65;CIGAR=1X;DP=148;DPB=148;DPRA=0;EPP=17.7429;EPPR=12.4549;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=370.505;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2472;QR=2989;RO=83;RPL=35;RPP=3.84548;RPPR=4.29225;RPR=30;RUN=1;SAF=27;SAP=7.05258;SAR=38;SF=31;SRF=41;SRP=3.03646;SRR=42;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs752071663;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;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=3.186e-05;AF_popmax=6.481e-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=6.481e-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=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\x3dOREG1880743|N/A|STAT1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.578929;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-169.543,0,-215.05:148:83:65:2472:2989 . . . . . +chr1 237941945 . G A 1327.90 . AB=0.506024;ABP=3.03646;AC=3;AF=0.5;AN=6;AO=42;CIGAR=1X;DP=343;DPB=83;DPRA=0;EPP=13.1438;EPPR=7.30028;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9512;NS=1;NUMALT=1;ODDS=237.926;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1575;QR=1551;RO=41;RPL=28;RPP=13.1438;RPPR=3.06326;RPR=14;RUN=1;SAF=20;SAP=3.21711;SAR=22;SF=0,17,31;SRF=20;SRP=3.06326;SRR=21;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-111.266,0,-109.545:83:41:42:1575:1551:41,42 . . . . . . . . . . . . . . . . 0/1:-193.671,0,-198.808:149:75:74:2765:2810 . . . . . . . . . . . . . 0/1:-120.582,0,-157.841:111:62:49:1778:2218 . . . . . +chr1 237942082 . AACTGCCTT ACCTT 733.01 . AB=0.581081;ABP=7.23587;AC=3;AF=0.5;AN=6;AO=43;CIGAR=1M4D4M;DP=227;DPB=54.8889;DPRA=0;EPP=11.5447;EPPR=12.7417;GTI=0;LEN=4;MEANALT=2;MQM=40.7907;MQMR=42;NS=1;NUMALT=1;ODDS=122.813;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1450;QR=999;RO=27;RPL=34;RPP=34.5724;RPPR=45.5551;RPR=9;RUN=1;SAF=25;SAP=5.48477;SAR=18;SF=0,17,31;SRF=17;SRP=6.95112;SRR=10;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 0/1:-105.007,0,-65.7142:74:27:43:1450:999:27,43 . . . . . . . . . . . . . . . . 0/1:.,.,-125.604:87:44:36:1231:1648 . . . . . . . . . . . . . 0/1:.,.,-95.338:66:36:28:945:1315 . . . . . +chr1 237946964 . T C 2526.00 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=148;CIGAR=1X;DP=2423;DPB=149;DPRA=0;EPP=3.24505;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.8784;MQMR=42;NS=1;NUMALT=1;ODDS=199.665;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5499;QR=39;RO=1;RPL=58;RPP=18.0345;RPPR=5.18177;RPR=90;RUN=1;SAF=100;SAP=42.6837;SAR=48;SF=3,4,5,7,11,12,14,16,19,21,22,24,26,30,31,34;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-471.72,-41.1299,0:149:1:148:5499:39:1,148 0/1:-164.198,0,-208.357:140:77:63:2382:2901 0/1:-269.047,0,-257.874:202:98:104:3804:3683:98,104 . 1/1:-568.578,-54.1854,0:180:0:180:6594:0 . . . 1/1:-736.685,-71.6451,0:239:0:238:8495:0 0/1:-239.511,0,-247.568:188:95:92:3455:3513:95,92 . 0/1:-242.389,0,-138.57:144:56:88:3304:2104 . 0/1:-209.47,0,-147.458:138:60:77:2901:2178:60,77 . . 0/1:-153.59,0,-167.592:121:63:58:2198:2369 . 0/1:-71.5874,0,-244.68:126:88:37:1257:3294:88,37 0/1:-206.435,0,-169.859:147:65:82:2886:2475 . 0/1:-117.653,0,-75.617:74:30:44:1615:1126:30,44 . 0/1:-268.391,0,-266.491:217:107:109:3852:3824 . . . 0/1:-215.518,0,-149.44:138:58:80:2970:2207 0/1:-155.11,0,-135.054:113:53:60:2177:1964 . . 0/1:-122.884,0,-152.541:107:57:50:1793:2131 . . +chr1 237947000 . C T 2343.01 . AB=0.459459;ABP=5.12308;AC=3;AF=0.5;AN=6;AO=68;CIGAR=1X;DP=546;DPB=148;DPRA=0;EPP=3.13803;EPPR=8.33041;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.75;NS=1;NUMALT=1;ODDS=373.857;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2490;QR=2779;RO=80;RPL=33;RPP=3.13803;RPPR=3.44459;RPR=35;RUN=1;SAF=48;SAP=28.0461;SAR=20;SF=0,17,31;SRF=59;SRP=42.2054;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-171.371,0,-196.805:148:80:68:2490:2779:80,68 . . . . . . . . . . . . . . . . 0/1:-375.751,0,-258.994:246:102:144:5314:3855 . . . . . . . . . . . . . 0/1:-188.927,0,-187.242:152:73:78:2697:2692 . . . . . +chr1 237948286 . A G 3452.94 . AB=0.498599;ABP=3.01638;AC=2;AF=0.5;AN=4;AO=178;CIGAR=1X;DP=559;DPB=357;DPRA=0;EPP=13.9897;EPPR=4.47817;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9777;NS=1;NUMALT=1;ODDS=1045.76;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6602;QR=6781;RO=179;RPL=88;RPP=3.0591;RPPR=10.5923;RPR=90;RUN=1;SAF=92;SAP=3.44947;SAR=86;SF=17,31;SRF=89;SRP=3.02243;SRR=90;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-462.362,0,-478.032:357:179:178:6602:6781 . . . . . . . . . . . . . 0/1:-243.709,0,-284.24:202:105:96:3533:4016 . . . . . +chr1 237951451 . A G 3292.15 . AB=0;ABP=0;AC=31;AF=1;AN=48;AO=126;CIGAR=1X;DP=4327;DPB=128;DPRA=0;EPP=14.6604;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.5635;MQMR=42;NS=1;NUMALT=1;ODDS=174.368;PAIRED=0.992063;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4720;QR=17;RO=1;RPL=105;RPP=124.613;RPPR=5.18177;RPR=21;RUN=1;SAF=55;SAP=7.42218;SAR=71;SF=3,4,5,7,8,10,11,12,13,14,15,16,19,20,21,22,23,24,25,26,29,31,34,35;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-403.02,-36.697,0:128:1:126:4720:17:1,126 0/1:-249.117,0,-249.493:186:92:94:3531:3541 0/1:-232.081,0,-199.514:165:77:88:3286:2882:77,88 . 1/1:-662.001,-57.2277,0:207:2:205:7753:55 0/1:-235.28,0,-170.531:153:67:86:3259:2513 . 0/1:-201.088,0,-178.053:142:66:75:2864:2561:66,75 1/1:-848.352,-78.8699,0:262:0:262:9849:0 0/1:-354.077,0,-248.411:228:97:131:4910:3686:97,131 0/1:-317.251,0,-292.168:232:112:120:4480:4218 0/1:-221.185,0,-194.173:157:73:84:3131:2794 0/1:-190.235,0,-285.035:181:103:76:2845:3935 0/1:-228.566,0,-307.774:200:112:88:3353:4266:112,88 . . 0/1:-177.997,0,-212.74:149:79:69:2590:2984 0/1:-269.705,0,-199.276:176:77:99:3777:2921:77,99 0/1:-189.942,0,-153.949:132:60:72:2653:2251:60,72 0/1:-165.642,0,-151.917:121:58:63:2333:2177 0/1:-244.394,0,-248.042:184:92:92:3469:3517 1/1:-235.134,-19.6298,0:76:1:75:2794:33:1,75 1/1:-1024.38,-94.8011,0:321:1:319:11950:17:1,319 1/1:-807.862,-76.1606,0:254:0:253:9369:0 . . 0/1:-291.394,0,-328.858:237:125:112:4206:4639 . 0/1:-223.066,0,-208.601:162:79:83:3145:2976 . . 0/1:-226.443,0,-229.392:170:85:85:3210:3251 1/1:-342.59,-31.3071,0:104:0:104:3963:0 . +chr1 237957146 . G A 2168.28 . AB=0;ABP=0;AC=42;AF=1;AN=58;AO=88;CIGAR=1X;DP=3169;DPB=90;DPRA=0;EPP=55.2243;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=41.3523;MQMR=42;NS=1;NUMALT=1;ODDS=108.042;PAIRED=1;PAIREDR=0.5;PAO=0;PQA=0;PQR=0;PRO=0;QA=3306;QR=75;RO=2;RPL=19;RPP=64.6999;RPPR=3.0103;RPR=69;RUN=1;SAF=40;SAP=4.58955;SAR=48;SF=2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,19,20,21,23,24,25,26,27,30,31,32,33,34,35;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 1/1:-276.746,-20.2277,0:90:2:88:3306:75 1/1:-294.977,-27.6948,0:92:0:92:3412:0:0,92 1/1:-316.541,-29.1999,0:97:0:97:3683:0 0/1:-183.761,0,-169.357:133:65:68:2593:2415:65,68 0/1:-75.1528,0,-134.477:80:50:30:1145:1827:50,30 0/1:-138.369,0,-181.394:122:68:54:2028:2515 1/1:-233.772,-21.3731,0:71:0:71:2705:0 0/1:-130.266,0,-93.5164:84:36:48:1797:1370:36,48 0/1:-145.969,0,-95.43:91:38:53:2004:1411:38,53 1/1:-600.442,-56.2926,0:187:0:187:6990:0 0/1:-191.989,0,-206.467:152:79:73:2789:2906:79,73 0/1:-208.356,0,-140.287:138:58:80:2886:2093 0/1:-97.6471,0,-100.925:76:39:37:1391:1424 . 0/1:-127.283,0,-127.653:96:49:47:1809:1806:49,47 0/1:-126.823,0,-129.11:96:49:47:1805:1821 . 1/1:-329.357,-31.0061,0:105:0:103:3841:0 0/1:-181.045,0,-123.467:113:48:65:2491:1826:48,65 0/1:-44.7813,0,-167.239:81:60:21:796:2205:60,21 . 1/1:-363.89,-33.1133,0:110:0:110:4225:0 0/1:-86.4812,0,-83.9534:64:32:32:1221:1187:32,32 0/1:-270.358,0,-357.527:240:132:107:3986:4958:132,107 1/1:-388.784,-35.9694,0:122:1:121:4500:17 0/1:-242.455,0,-232.155:182:89:93:3448:3322:89,93 . . 1/1:-299.342,-27.3937,0:91:0:91:3465:0 1/1:-405.204,-36.983,0:129:1:126:4703:14 1/1:-316.797,-29.5009,0:98:0:98:3668:0 1/1:-239.442,-21.9752,0:73:0:73:2786:0 1/1:-280.95,-26.1896,0:87:0:87:3250:0 0/1:-80.7758,0,-101.007:69:37:32:1171:1403 . +chr1 237957161 . A G 2784.27 . AB=0;ABP=0;AC=43;AF=1;AN=58;AO=116;CIGAR=1X;DP=3928;DPB=118;DPRA=0;EPP=24.6501;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.4914;MQMR=42;NS=1;NUMALT=1;ODDS=160.587;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4266;QR=17;RO=1;RPL=24;RPP=89.5697;RPPR=5.18177;RPR=92;RUN=1;SAF=55;SAP=3.68421;SAR=61;SF=2,3,4,5,6,7,8,9,10,11,12,13,14,16,17,19,20,21,23,24,25,26,27,30,31,32,33,34,35;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 1/1:-365.376,-33.6867,0:118:1:116:4266:17 1/1:-363.789,-34.3174,0:114:0:114:4204:0:0,114 1/1:-404.638,-37.9298,0:126:0:126:4691:0 0/1:-232.044,0,-179.699:156:70:86:3229:2619:70,86 0/1:-93.4111,0,-165.371:98:60:38:1417:2253:60,38 0/1:-196.577,0,-193.357:150:73:77:2789:2760 1/1:-281.316,-26.4906,0:88:0:88:3250:0 0/1:-173.427,0,-94.3443:102:38:64:2372:1447:38,64 0/1:-155.987,0,-142.962:114:54:60:2198:2052:54,60 1/1:-690.884,-65.9256,0:219:0:219:8015:0 0/1:-246.817,0,-258.636:192:97:95:3541:3661:97,95 0/1:-306.01,0,-184.346:193:76:116:4199:2797 1/1:-322.838,-30.103,0:100:0:100:3730:0 . 0/1:-153.904,0,-160.342:118:60:58:2205:2264:60,58 0/1:-143.057,0,-151.705:113:59:54:2048:2144 . 1/1:-426.853,-40.6391,0:136:0:135:4962:0 0/1:-222.915,0,-140.463:142:57:84:3067:2131:57,84 0/1:-58.0622,0,-210.052:102:75:27:1023:2779:75,27 . 1/1:-433.679,-39.736,0:132:0:132:5038:0 0/1:-100.178,0,-115.466:80:42:38:1434:1615:42,38 0/1:-361.131,0,-423:300:159:141:5274:5939:159,141 1/1:-512.963,-49.3689,0:165:0:164:5927:0 0/1:-275.776,0,-230.214:194:89:105:3877:3339:89,105 . . 1/1:-365.817,-34.0164,0:113:0:113:4232:0 1/1:-447.291,-39.3784,0:141:1:140:5210:31 1/1:-405.658,-37.9298,0:126:0:126:4687:0 1/1:-303.187,-25.6504,0:96:1:95:3551:33 1/1:-371.679,-35.2205,0:117:0:117:4290:0 0/1:-102.1,0,-117.314:83:43:40:1466:1645 . +chr1 237957309 . A C 1821.30 . AB=0;ABP=0;AC=41;AF=1;AN=56;AO=77;CIGAR=1X;DP=2452;DPB=78;DPRA=0;EPP=70.7208;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.974;MQMR=40;NS=1;NUMALT=1;ODDS=107.238;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2880;QR=14;RO=1;RPL=48;RPP=13.1908;RPPR=5.18177;RPR=29;RUN=1;SAF=36;SAP=3.71532;SAR=41;SF=2,3,4,5,6,7,8,9,10,11,12,13,14,16,19,20,21,23,24,25,26,27,30,31,32,33,34,35;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 1/1:-248.08,-22.0814,0:78:1:77:2880:14 1/1:-282.704,-26.4906,0:88:0:88:3263:0:0,88 1/1:-266.636,-24.6845,0:82:0:82:3083:0 0/1:-138.74,0,-82.2139:84:33:51:1893:1242:33,51 0/1:-69.1111,0,-117.227:71:43:28:1040:1613:43,28 0/1:-124.293,0,-90.7433:83:37:46:1722:1335 1/1:-245.961,-23.1793,0:77:0:77:2846:0 0/1:-86.9032,0,-61.4137:59:25:34:1246:912:25,34 0/1:-135.781,0,-118.49:95:45:50:1899:1725:45,50 1/1:-398.64,-37.0267,0:123:0:123:4605:0 0/1:-157.915,0,-131.361:108:50:58:2199:1897:50,58 0/1:-195.818,0,-155.695:135:60:75:2725:2271 1/1:-186.32,-17.1587,0:57:0:57:2153:0 . 0/1:-94.7061,0,-67.8694:64:26:37:1323:1006:26,37 . . 1/1:-265.832,-24.9855,0:83:0:83:3081:0 0/1:-115.862,0,-120.695:93:47:46:1659:1743:47,46 0/1:-20.6524,0,-140.182:62:50:12:450:1829:50,12 . 1/1:-276.176,-19.7169,0:89:2:87:3273:78 0/1:-71.9092,0,-43.6891:43:17:26:976:652:17,26 0/1:-225.879,0,-211.537:165:80:85:3180:3027:80,85 1/1:-402.408,-39.736,0:132:0:132:4634:0 0/1:-158.634,0,-144.047:118:57:61:2259:2082:57,61 . . 1/1:-267.501,-24.9855,0:83:0:83:3086:0 0/1:-130.446,0,-120.969:95:45:50:1857:1731 1/1:-270.152,-24.9855,0:83:0:83:3120:0 1/1:-197.123,-18.3628,0:61:0:61:2288:0 1/1:-284.538,-26.7917,0:89:0:89:3312:0 0/1:-88.5969,0,-50.5191:52:20:32:1200:762 . +chr1 237965131 . GCATTTTTTTTTTTTGTCATTG ACATTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTGTCATTG 1490.69 . AB=0;ABP=0;AC=18,3,1;AF=1;AN=36;AO=110;CIGAR=1X2M1I19M;DP=2701;DPB=158.182;DPRA=0;EPP=3.08926;EPPR=0;GTI=0;LEN=23;MEANALT=16;MQM=40.2909;MQMR=0;NS=1;NUMALT=1;ODDS=40.6059;PAIRED=0.981818;PAIREDR=0;PAO=4.5;PQA=172.5;PQR=0;PRO=0;QA=3828;QR=0;RO=0;RPL=25;RPP=74.0767;RPPR=0;RPR=85;RUN=1;SAF=61;SAP=5.85295;SAR=49;SF=3,5,6,8,11,12,14,16,19,21,23,24,26,27,31,32,33,34;SRF=0;SRP=0;SRR=0;TYPE=complex;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=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\x3d98.355954;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\x3d98.355954;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=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\x3d98.355954;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-330.08,-38.5318,0,.,.,.,.,.,.,.:151:0:110,.,.:3828,.,.:0:0,110 . 0/1:-153.599,0,-186.882,.,.,.,.,.,.,.:185:73:63,.,.:2164,.,.:2631:73,63 0/1:-107.393,0,-119.212,.,.,.,.,.,.,.:107:47:40,.,.:1403,.,.:1675:47,40 . 0/1:.,.,-205.732,.,.,.,.,.,.,.:130:73:37,.,.:1150,.,.:2662 . . 1/1:.,.,0,.,.,.,.,.,.,.:201:0:134,.,.:4263,.,.:0 0/1:-166.375,0,-156.482,.,.,.,.,.,.,.:185:66:71,.,.:2474,.,.:2328:66,71 . 1/1:.,.,0,.,.,.,.,.,.,.:149:1:107,.,.:3546,.,.:31 . 0/1:-177.583,0,-115.782,.,.,.,.,.,.,.:159:48:65,.,.:2183,.,.:1745:48,65 . . 0/1:.,.,-154.752,.,.,.,.,.,.,.:160:57:52,.,.:1722,.,.:2054 . 0/3:-22.5087,.,.,.,.,.,0,.,.,-161.768:107:60:.,.,13:.,.,438:2130:60,13 . 0/1:.,.,-170.467,.,.,.,.,.,.,.:138:63:48,.,.:1618,.,.:2304 0/1:-47.6684,0,-76.5981,.,.,.,.,.,.,.:77:30:22,.,.:739,.,.:1079:30,22 . 1/2:.,.,-60.9759,.,0,-176.026,.,.,.,.:209:0:85,47,.:2599,1271,.:0 0/1:-145.14,0,-235.997,.,.,.,.,.,.,.:263:94:69,.,.:2337,.,.:3340:94,69 . . . 0/1:.,.,-161.371,.,.,.,.,.,.,.:140:59:42,.,.:1263,.,.:2065 0/2:.,.,.,.,.,-168.079,.,.,.,.:119:52:.,26,.:.,678,.:1842 0/2:.,.,.,.,.,-85.9883,.,.,.,.:88:29:.,29,.:.,741,.:1012 0/1:.,.,-99.084,.,.,.,.,.,.,.:133:38:56,.,.:1881,.,.:1370 . . +chr1 237965133 . ATTTTTTTTTTTTGTCATTG ATTTTTTTTTTTGTCATTG 168.93 . AB=0.166667;ABP=124.613;AC=1;AF=0.5;AN=2;AO=21;CIGAR=1M1D18M;DP=126;DPB=125.25;DPRA=0;EPP=3.1137;EPPR=8.33041;GTI=0;LEN=1;MEANALT=13;MQM=40.381;MQMR=41.925;NS=1;NUMALT=1;ODDS=38.8967;PAIRED=0.952381;PAIREDR=1;PAO=0.333333;PQA=11.6667;PQR=11.6667;PRO=0.333333;QA=739;QR=2909;RO=80;RPL=3;RPP=26.2761;RPPR=34.3881;RPR=18;RUN=1;SAF=8;SAP=5.59539;SAR=13;SF=10;SRF=42;SRP=3.44459;SRR=38;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs764400413;CLNALLELEID=52906;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=0.1417;ExAC_nontcga_AFR=0.1413;ExAC_nontcga_AMR=0.1943;ExAC_nontcga_EAS=0.0800;ExAC_nontcga_FIN=0.1056;ExAC_nontcga_NFE=0.1468;ExAC_nontcga_OTH=0.1635;ExAC_nontcga_SAS=0.1343;AF=0.0066;AF_popmax=0.0221;AF_male=0.0056;AF_female=0.0078;AF_raw=0.0161;AF_afr=0.0029;AF_sas=.;AF_amr=0.0221;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0262;AF_asj=0;AF_oth=0.0204;non_topmed_AF_popmax=0.0217;non_neuro_AF_popmax=0.0145;non_cancer_AF_popmax=.;controls_AF_popmax=0.0380;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\x3d98.355954;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-32.8705,0,-222.35:126:80:21:739:2909:80,21 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr1 237972189 . A G 875.47 . AB=0.555556;ABP=4.45795;AC=2;AF=0.5;AN=4;AO=30;CIGAR=1X;DP=124;DPB=54;DPRA=0;EPP=3.0103;EPPR=3.37221;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=125.463;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1137;QR=910;RO=24;RPL=10;RPP=10.2485;RPPR=6.26751;RPR=20;RUN=1;SAF=21;SAP=13.4334;SAR=9;SF=17,31;SRF=20;SRP=26.1727;SRR=4;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-82.4952,0,-62.7304:54:24:30:1137:910 . . . . . . . . . . . . . 0/1:-110.793,0,-64.5453:70:27:43:1527:986 . . . . . +chr1 237982383 . C A 1449.75 . AB=0.542056;ABP=4.65412;AC=1;AF=0.5;AN=2;AO=58;CIGAR=1X;DP=107;DPB=107;DPRA=0;EPP=3.16006;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9592;NS=1;NUMALT=1;ODDS=272.782;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2127;QR=1806;RO=49;RPL=22;RPP=10.3484;RPPR=5.18177;RPR=36;RUN=1;SAF=32;SAP=4.35811;SAR=26;SF=23;SRF=28;SRP=5.18177;SRR=21;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon101:c.C14481A:p.I4827I;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114303476;CLNALLELEID=52914;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=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0087;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0026;AF_popmax=0.0092;AF_male=0.0026;AF_female=0.0027;AF_raw=0.0026;AF_afr=0.0092;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=0.0092;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0082;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\x3d99.902880;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-152.073,0,-125.221:107:49:58:2127:1806 . . . . . . . . . . . . . +chr1 237991767 . T C 2352.16 . AB=0.545455;ABP=6.95843;AC=2;AF=0.5;AN=4;AO=120;CIGAR=1X;DP=346;DPB=220;DPRA=0;EPP=13.4334;EPPR=15.518;GTI=0;LEN=1;MEANALT=1;MQM=41.8333;MQMR=41.64;NS=1;NUMALT=1;ODDS=538.946;PAIRED=0.991667;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4431;QR=3590;RO=100;RPL=83;RPP=41.3006;RPPR=17.6895;RPR=37;RUN=1;SAF=43;SAP=23.9288;SAR=77;SF=17,31;SRF=41;SRP=10.0459;SRR=59;TYPE=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=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-316.046,0,-244.442:220:100:120:4431:3590 . . . . . . . . . . . . . 0/1:-175.807,0,-145.356:126:58:68:2465:2109 . . . . . +chr1 237993877 . G C 1792.61 . AB=0.557252;ABP=6.73993;AC=1;AF=0.5;AN=2;AO=73;CIGAR=1X;DP=131;DPB=131;DPRA=0;EPP=11.607;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=303.674;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2585;QR=2035;RO=58;RPL=39;RPP=3.75395;RPPR=8.40154;RPR=34;RUN=1;SAF=30;SAP=8.03741;SAR=43;SF=24;SRF=26;SRP=4.35811;SRR=32;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RYR2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=RYR2:NM_001035:exon103:c.G14703C:p.V4901V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201371633;CLNALLELEID=178037;CLNDN=Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|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=7.579e-05;ExAC_nontcga_AFR=0.0002;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=9.553e-05;AF_popmax=0.0002;AF_male=0.0001;AF_female=7.18e-05;AF_raw=9.549e-05;AF_afr=0.0002;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=0.0002;non_neuro_AF_popmax=7.341e-05;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\x3d99.927183;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-186.356,0,-138.069:131:58:73:2585:2035:58,73 . . . . . . . . . . . . +chr10 18430167 . G C 271.11 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=9;CIGAR=1X;DP=9;DPB=9;DPRA=0;EPP=9.04217;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=17.0818;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=335;QR=0;RO=0;RPL=5;RPP=3.25157;RPPR=0;RPR=4;RUN=1;SAF=5;SAP=3.25157;SAR=4;SF=6;SRF=0;SRP=0;SRR=0;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 1/1:-29.4813,-2.70927,0:9:0:9:335:0:0,9 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 18439769 . AATAATCTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG AATAATCTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 29.46 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=1;CIGAR=41M2X1M2X1M1X1M2X;DP=19;DPB=23.1373;DPRA=0;EPP=5.18177;EPPR=0;GTI=0;LEN=51;MEANALT=17;MQM=23;MQMR=0;NS=1;NUMALT=1;ODDS=3.14657;PAIRED=0;PAIREDR=0;PAO=2;PQA=38;PQR=0;PRO=0;QA=22;QR=0;RO=0;RPL=1;RPP=5.18177;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=5.18177;SAR=0;SF=12;SRF=0;SRP=0;SRR=0;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNB2:NM_001167945:exon2:c.37_44TTTTTTTT,CACNB2:NM_201571:exon2:c.37_44TTTTTTTT,CACNB2:NM_201572:exon2:c.37_44TTTTTTTT,CACNB2:NM_201593:exon2:c.121_128TTTTTTTT,CACNB2:NM_201596:exon2:c.121_128TTTTTTTT,CACNB2:NM_201597:exon2:c.121_128TTTTTTTT;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\x3d98.463467;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 1/1:-3.81024,-0.90309,0:19:0:1:22:0:0,1 . . . . . . . . . . . . . . . . . . . . . . . . +chr10 18439775 . CTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG CTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 57.19 . AB=0;ABP=0;AC=2,4;AF=1;AN=6;AO=2;CIGAR=1X2M1X2M2D1M1X35M;DP=85;DPB=35.5556;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=43;MEANALT=26;MQM=23;MQMR=41;NS=1;NUMALT=1;ODDS=3.00573;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=81.3333;PRO=2.16667;QA=40;QR=67;RO=2;RPL=1;RPP=3.0103;RPPR=3.0103;RPR=1;RUN=1;SAF=0;SAP=7.35324;SAR=2;SF=9,10,16;SRF=2;SRP=7.35324;SRR=0;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs769720156;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0019;ExAC_nontcga_FIN=0.0028;ExAC_nontcga_NFE=0.0012;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=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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 2/2:-2.16775,.,.,-5.24573,.,0:31:2:.,2:.,40:67:2,2 1/1:-6.64934,-0.60206,0,.,.,.:25:0:2,.:78,.:0:0,2 . . . . . 2/2:-9.80863,.,.,-15.3225,.,0:29:1:.,2:.,25:34:1,2 . . . . . . . . . . . . . . . . . . . . +chr10 18439777 . TATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 134.10 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=7;CIGAR=8M1D34M;DP=114;DPB=119.14;DPRA=0;EPP=3.32051;EPPR=3.73412;GTI=0;LEN=1;MEANALT=74;MQM=41.7143;MQMR=36;NS=1;NUMALT=1;ODDS=7.83139;PAIRED=1;PAIREDR=1;PAO=10.9167;PQA=370.75;PQR=370.75;PRO=10.9167;QA=267;QR=102;RO=3;RPL=3;RPP=3.32051;RPPR=3.73412;RPR=4;RUN=1;SAF=7;SAP=18.2106;SAR=0;SF=25;SRF=3;SRP=9.52472;SRR=0;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs759472534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;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=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0019;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000401;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-14.8879,-16.5529,0:114:3:7:267:102:3,7 . . . . . . . . . . . +chr10 18439779 . TTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 129.53 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=7;CIGAR=3M1X1M1X35M;DP=37;DPB=42.0244;DPRA=0;EPP=10.7656;EPPR=3.0103;GTI=0;LEN=41;MEANALT=23;MQM=28.5714;MQMR=42;NS=1;NUMALT=1;ODDS=11.3025;PAIRED=1;PAIREDR=1;PAO=0.333333;PQA=9;PQR=187.083;PRO=5.16667;QA=141;QR=68;RO=2;RPL=1;RPP=10.7656;RPPR=3.0103;RPR=6;RUN=1;SAF=0;SAP=18.2106;SAR=7;SF=0;SRF=2;SRP=7.35324;SRR=0;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;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:GL:DP:RO:AO:QA:QR:AD 1/1:-16.3808,-22.5941,0:37:2:7:141:68:2,7 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 18439784 . CTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,CTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,CTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 60.58 . AB=0;ABP=0;AC=5,2,1;AF=1;AN=12;AO=2;CIGAR=1X;DP=168;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=4.1336;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=38;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=0;SAP=7.35324;SAR=2;SF=1,2,19,27,30,31;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs79936088;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=.;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=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs759472534;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;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=0.0004;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0019;ExAC_nontcga_NFE=0.0012;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.000401;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=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs776698604;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;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=0.0004;ExAC_nontcga_AMR=0.0006;ExAC_nontcga_EAS=0.0006;ExAC_nontcga_FIN=0.0019;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0;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=0.0002523;Kaviar_AC=39;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . 1/1:.,.,0,.,.,.,.,.,.,.:2:0:2,.,.:38,.,.:0 0/3:.,.,.,.,.,.,.,.,.,-10.7375:44:6:.,.,12:.,.,382:220 . . . . . . . . . . . . . . . . 0/1:.,.,-35.9925,.,.,.,.,.,.,.:21:14:7,.,.:202,.,.:515 . . . . . . . 1/1:-3.04348,-7.22472,0,.,.,.,.,.,.,.:23:0:2,.,.:50,.,.:0:0,2 . . 0/2:.,.,.,.,.,-2.27474,.,.,.,.:37:4:.,8,.:.,269,.:148 0/2:.,.,.,.,.,-12.6994,.,.,.,.:41:9:.,9,.:.,302,.:329 . . . . . +chr10 18439810 . AGTCATA TGTCATA,TTTTTTT 47.91 . AB=0.5;ABP=3.0103;AC=2,1;AF=0.5;AN=6;AO=24;CIGAR=1X;DP=116;DPB=48;DPRA=0;EPP=39.2015;EPPR=18.9659;GTI=0;LEN=1;MEANALT=2;MQM=28.9583;MQMR=26.6087;NS=1;NUMALT=1;ODDS=6.01593;PAIRED=0.833333;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=439;QR=556;RO=23;RPL=22;RPP=39.2015;RPPR=3.10471;RPR=2;RUN=1;SAF=24;SAP=55.1256;SAR=0;SF=13,22,29;SRF=12;SRP=3.10471;SRR=11;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:exon2:c.121-2A>T\x3bNM_201593:exon2:c.121-2A>T\x3bNM_201596:exon2:c.121-2A>T\x3bNM_001167945:exon2:c.37-2A>T\x3bNM_201571:exon2:c.37-2A>T\x3bNM_201572:exon2:c.37-2A>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs750396182;CLNALLELEID=227847;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=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=4.429;CADD_raw_rankscore=0.593;CADD_phred=24.2;DANN_score=0.995;DANN_rankscore=0.672;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.665;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.028;Eigen-PC-raw=0.870;GenoCanyon_score=0.913;GenoCanyon_score_rankscore=0.264;integrated_fitCons_score=0.061;integrated_fitCons_score_rankscore=0.009;integrated_confidence_value=0;GERP++_RS=5.7;GERP++_RS_rankscore=0.886;phyloP100way_vertebrate=6.589;phyloP100way_vertebrate_rankscore=0.738;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.854;phastCons20way_mammalian_rankscore=0.356;SiPhy_29way_logOdds=14.962;SiPhy_29way_logOdds_rankscore=0.707;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.928;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.754e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=8.472e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0199;AF_popmax=0.0232;AF_male=0.0184;AF_female=0.0221;AF_raw=0.0028;AF_afr=0.0161;AF_sas=.;AF_amr=0;AF_eas=0.0102;AF_nfe=0.0232;AF_fin=0.0588;AF_asj=0;AF_oth=0.0370;non_topmed_AF_popmax=0.0169;non_neuro_AF_popmax=0.0262;non_cancer_AF_popmax=.;controls_AF_popmax=0.0243;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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNB2;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNB2:NM_001167945:exon2:c.37_41TTTTT,CACNB2:NM_201571:exon2:c.37_41TTTTT,CACNB2:NM_201572:exon2:c.37_41TTTTT,CACNB2:NM_201593:exon2:c.121_125TTTTT,CACNB2:NM_201596:exon2:c.121_125TTTTT,CACNB2:NM_201597:exon2:c.121_125TTTTT;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\x3d98.463467;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:.,.,-21.558,.,.,.:48:23:24,.:439,.:556 . . . . . . . . 0/2:-22.3333,.,.,0,.,-38.7578:32:13:.,10:.,329:438 . . . . . . 0/1:.,.,-22.1508,.,.,.:36:19:17,.:371,.:557 . . . . . . . +chr10 18439926 . T C 818.41 . AB=0.444444;ABP=4.45795;AC=7;AF=0.5;AN=14;AO=24;CIGAR=1X;DP=572;DPB=54;DPRA=0;EPP=16.0391;EPPR=7.64277;GTI=0;LEN=1;MEANALT=1;MQM=41.8333;MQMR=40.1333;NS=1;NUMALT=1;ODDS=115.742;PAIRED=0.958333;PAIREDR=0.966667;PAO=0;PQA=0;PQR=0;PRO=0;QA=848;QR=1060;RO=30;RPL=12;RPP=3.0103;RPPR=7.64277;RPR=12;RUN=1;SAF=8;SAP=8.80089;SAR=16;SF=8,11,21,25,28,30,34;SRF=16;SRP=3.29983;SRR=14;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-57.6215,0,-72.1105:54:30:24:848:1060 . . 0/1:-128.778,0,-174.453:124:68:56:1987:2549 . . . . . . . . . 0/1:-25.3406,0,-115.033:57:42:14:486:1535:42,14 . . . 0/1:-184.958,0,-157.136:142:65:77:2699:2387:65,77 . . 0/1:-96.1596,0,-106.711:78:40:38:1372:1503 . 0/1:-66.7558,0,-69.3484:52:26:26:946:996 . . . 0/1:-66.7586,0,-86.2568:65:34:31:1055:1235 . . +chr10 18690063 . TTATTTTGTCT TT 1192.53 . AB=0.422857;ABP=12.056;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1M9D1M;DP=175;DPB=114.636;DPRA=0;EPP=4.06669;EPPR=7.26639;GTI=0;LEN=9;MEANALT=2;MQM=32.0541;MQMR=41.98;NS=1;NUMALT=1;ODDS=274.59;PAIRED=1;PAIREDR=1;PAO=1;PQA=0;PQR=0;PRO=1;QA=2642;QR=3755;RO=100;RPL=58;RPP=54.7735;RPPR=41.3151;RPR=16;RUN=1;SAF=32;SAP=5.94472;SAR=42;SF=16;SRF=36;SRP=20.0346;SRR=64;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNB2;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=Name\x3dENSR00000025217|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.817021,99.012627;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-132.225,0,-271.75:175:100:74:2642:3755:100,74 . . . . . . . . . . . . . . . . . . . . +chr10 18789724 . T G 2220.68 . AB=0.57377;ABP=5.89373;AC=27;AF=0.5;AN=44;AO=35;CIGAR=1X;DP=2846;DPB=61;DPRA=0;EPP=10.5174;EPPR=6.01695;GTI=0;LEN=1;MEANALT=1;MQM=41.4571;MQMR=40.5;NS=1;NUMALT=1;ODDS=130.631;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1341;QR=993;RO=26;RPL=9;RPP=20.9405;RPPR=19.3799;RPR=26;RUN=1;SAF=21;SAP=6.05036;SAR=14;SF=1,2,3,5,6,8,9,11,13,16,17,18,21,22,26,28,30,31,33,34,35,36;SRF=16;SRP=6.01695;SRR=10;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-96.4699,0,-64.6773:61:26:35:1341:993 0/1:-176.14,0,-153.55:130:61:69:2487:2226 0/1:-162.427,0,-162.098:122:61:61:2306:2304:61,61 . 0/1:-189.011,0,-169.008:133:64:69:2653:2419:64,69 0/1:-150.46,0,-78.5735:85:32:53:2038:1202:32,53 . 0/1:-158.405,0,-148.521:116:56:60:2247:2122 1/1:-406.431,-37.3277,0:124:0:124:4704:0:0,124 . 1/1:-640.256,-59.905,0:199:0:199:7422:0 . 0/1:-274.343,0,-285.672:213:108:105:3927:4048 . . 0/1:-181.105,0,-217.758:151:81:70:2622:3043:81,70 0/1:-234.203,0,-194.844:163:75:88:3291:2820 0/1:-85.7342,0,-104.063:73:40:33:1243:1453 . . 0/1:-40.0622,0,-213.576:97:76:21:797:2802:76,21 0/1:-118.138,0,-148.06:103:57:46:1721:2066 . . . 1/1:-643.778,-61.1091,0:203:0:203:7468:0 . 1/1:-357.988,-33.7154,0:112:0:112:4153:0 . 0/1:-172.761,0,-168.538:129:64:65:2449:2399 0/1:-194.828,0,-146.759:133:59:74:2713:2155 . 1/1:-421.953,-38.8329,0:130:0:129:4886:0 0/1:-167.992,0,-159.024:123:61:62:2372:2266 0/1:-116.408,0,-118.123:89:44:44:1652:1675 0/1:-175.49,0,-247.37:157:90:67:2581:3410 +chr10 18803338 . A G 3969.62 . AB=0.528384;ABP=4.61283;AC=2;AF=0.5;AN=4;AO=121;CIGAR=1X;DP=623;DPB=229;DPRA=0;EPP=9.48883;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.3056;NS=1;NUMALT=1;ODDS=591.75;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4506;QR=4041;RO=108;RPL=84;RPP=42.6531;RPPR=125.337;RPR=37;RUN=1;SAF=67;SAP=6.04318;SAR=54;SF=8,11;SRF=50;SRP=4.2971;SRR=58;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-321.138,0,-277.432:229:108:121:4506:4041 . . 0/1:-498.442,0,-490.145:394:194:199:7154:7023 . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 18816565 . G A 3536.12 . AB=0.53629;ABP=5.84722;AC=2;AF=0.5;AN=4;AO=133;CIGAR=1X;DP=538;DPB=248;DPRA=0;EPP=3.41847;EPPR=3.18024;GTI=0;LEN=1;MEANALT=1;MQM=41.6692;MQMR=41.7652;NS=1;NUMALT=1;ODDS=645.755;PAIRED=1;PAIREDR=0.982609;PAO=0;PQA=0;PQR=0;PRO=0;QA=4705;QR=4210;RO=115;RPL=84;RPP=23.0107;RPPR=23.5732;RPR=49;RUN=1;SAF=69;SAP=3.41847;SAR=64;SF=9,36;SRF=55;SRP=3.48236;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-334.207,0,-289.545:248:115:133:4705:4210:115,133 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-392.532,0,-346.588:290:137:152:5528:4996 +chr10 18816633 . C T 3699.35 . AB=0;ABP=0;AC=11;AF=1;AN=20;AO=245;CIGAR=1X;DP=2547;DPB=246;DPRA=0;EPP=8.54977;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9224;MQMR=0;NS=1;NUMALT=1;ODDS=344.247;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9199;QR=0;RO=0;RPL=113;RPP=6.2099;RPPR=0;RPR=132;RUN=1;SAF=133;SAP=6.91895;SAR=112;SF=3,7,15,19,21,23,26,31,32,34;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-793.508,-73.7524,0:246:0:245:9199:0:0,245 . . . 0/1:-421.007,0,-406.198:320:157:163:6019:5811 . . . . . . . 0/1:-389.37,0,-337.873:277:131:145:5463:4878 . . . 0/1:-348.388,0,-310.424:252:120:131:4922:4485 . 0/1:-74.7293,0,-387.084:183:143:40:1498:5097:143,40 . 0/1:-428.055,0,-360.596:299:139:160:5996:5202 . . 0/1:-410.212,0,-383.766:318:153:163:5856:5542 . . . . 0/1:-279.204,0,-237.553:206:95:110:3933:3453 0/1:-269.697,0,-226.546:193:88:103:3780:3286 . 0/1:-377.564,0,-276.757:253:109:143:5236:4074 . . +chr10 18828371 . C T 8608.25 . AB=0;ABP=0;AC=11;AF=1;AN=20;AO=639;CIGAR=1X;DP=6368;DPB=639;DPRA=0;EPP=12.5559;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.4851;MQMR=0;NS=1;NUMALT=1;ODDS=890.447;PAIRED=0.982786;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=23843;QR=0;RO=0;RPL=315;RPP=3.28556;RPPR=0;RPR=324;RUN=1;SAF=321;SAP=3.04088;SAR=318;SF=3,7,15,19,21,23,26,31,32,34;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-2042.71,-192.358,0:639:0:639:23843:0:0,639 . . . 0/1:-1040.08,0,-1207.29:876:467:409:15133:17143 . . . . . . . 0/1:-918.035,0,-857.52:697:342:353:13065:12430 . . . 0/1:-844.828,0,-997.061:720:383:336:12407:14111 . 0/1:-191.51,0,-653.312:332:240:92:3378:8656:240,92 . 0/1:-961.047,0,-1188.17:829:451:378:14055:16716 . . 0/1:-800.808,0,-1031.62:740:403:336:11908:14644 . . . . 0/1:-455.178,0,-579.733:409:224:184:6717:8168 0/1:-722.889,0,-691.559:547:270:277:10274:9959 . 0/1:-732.753,0,-775.725:579:297:282:10498:11034 . . +chr10 18828635 . T G 1708.22 . AB=0.571429;ABP=5.49198;AC=25;AF=0.5;AN=46;AO=32;CIGAR=1X;DP=4436;DPB=56;DPRA=0;EPP=3.0103;EPPR=5.59539;GTI=0;LEN=1;MEANALT=2;MQM=33.875;MQMR=36.4762;NS=1;NUMALT=1;ODDS=76.9566;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=994;QR=702;RO=21;RPL=26;RPP=30.1537;RPPR=26.2761;RPR=6;RUN=1;SAF=10;SAP=12.7819;SAR=22;SF=1,2,4,5,6,7,9,13,14,15,16,17,18,21,22,26,27,28,30,31,33,35,36;SRF=7;SRP=8.07707;SRR=14;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-64.0623,0,-42.341:56:21:32:994:702 0/1:-184.977,0,-125.252:165:73:89:2939:2149 . 0/1:-125.549,0,-231.003:185:109:71:2190:3583 0/1:-268.051,0,-228.574:264:124:134:4519:3937:124,134 0/1:-125.003,0,-154.118:156:82:70:2257:2482:82,70 0/1:-202.463,0,-270.36:263:138:120:3734:4551 . 1/1:-354.216,-35.6342,0:162:9:148:4819:156:9,148 . . . 0/1:-242.331,0,-273.004:300:156:135:4088:4722 0/1:-131.31,0,-155.444:156:79:67:2160:2600 0/1:-210.584,0,-127.005:201:85:115:3492:2444 0/1:-195.573,0,-156.73:180:84:95:3203:2714:84,95 0/1:-186.735,0,-214.364:221:115:102:3344:3498 0/1:-134.113,0,-102.254:123:62:60:2061:1788 . . 0/1:-77.2894,0,-241.446:168:120:47:1514:3555:120,47 0/1:-105.734,0,-141.855:162:85:71:2006:2528 . . . 0/1:-185.49,0,-298.718:318:182:129:3677:5198 0/1:-271.571,0,-227.523:305:144:156:4743:4132:144,156 0/1:-106.908,0,-164.915:158:88:68:1974:2792 . 0/1:-199.08,0,-154.097:195:89:101:3181:2628 0/1:-193.806,0,-186.24:229:108:114:3264:3163 . 1/1:-274.5,-22.2244,0:127:11:113:3579:188 . 0/1:-110.543,0,-133.902:138:70:67:2026:2244 0/1:-176.456,0,-219.162:204:107:93:2904:3394 +chr10 18828661 . CCG CCT 3581.04 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=112;CIGAR=2M1X;DP=366;DPB=135.333;DPRA=0;EPP=25.423;EPPR=0;GTI=0;LEN=1;MEANALT=11;MQM=34.4196;MQMR=0;NS=1;NUMALT=1;ODDS=173.733;PAIRED=0;PAIREDR=0;PAO=5;PQA=170;PQR=170;PRO=5;QA=3415;QR=0;RO=0;RPL=49;RPP=6.81038;RPPR=0;RPR=63;RUN=1;SAF=60;SAP=4.25114;SAR=52;SF=21,27;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*10delG\x3bNM_201593:c.*10delG\x3bNM_201596:c.*10delG\x3bNM_001167945:c.*10delG\x3bNM_201571:c.*10delG\x3bNM_201572:c.*10delG\x3bNM_001330060:c.*10delG\x3bNM_000724:c.*10delG\x3bNM_201590:c.*10delG\x3bNM_201570:c.*10delG;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367928065;CLNALLELEID=315022;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=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.97e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.017e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.866e-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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.448897;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 1/1:-271.774,-39.736,0:130:0:112:3415:0:0,112 . . . . . 1/1:-457.451,-69.3519,0:236:2:200:6363:26:2,200 . . . . . . . . . +chr10 18828662 . CG CT 1680.04 . AB=0.354839;ABP=20.0318;AC=7;AF=0.5;AN=8;AO=33;CIGAR=1M1X;DP=414;DPB=96.5;DPRA=0;EPP=22.0271;EPPR=30.1939;GTI=0;LEN=1;MEANALT=6;MQM=32.3333;MQMR=31.9074;NS=1;NUMALT=1;ODDS=89.3441;PAIRED=0.909091;PAIREDR=0.87037;PAO=3.5;PQA=119.5;PQR=119.5;PRO=3.5;QA=1047;QR=1600;RO=54;RPL=16;RPP=3.0761;RPPR=5.5839;RPR=17;RUN=1;SAF=14;SAP=4.65535;SAR=19;SF=0,3,16,24;SRF=25;SRP=3.6537;SRR=29;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*10delG\x3bNM_201593:c.*10delG\x3bNM_201596:c.*10delG\x3bNM_001167945:c.*10delG\x3bNM_201571:c.*10delG\x3bNM_201572:c.*10delG\x3bNM_001330060:c.*10delG\x3bNM_000724:c.*10delG\x3bNM_201590:c.*10delG\x3bNM_201570:c.*10delG;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs367928065;CLNALLELEID=315022;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=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.97e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.017e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.866e-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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.448897;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-47.6487,0,-89.6816:93:54:33:1047:1600:54,33 . . 1/1:-338.025,-45.1757,0:156:2:146:4453:27:2,146 . . . . . . . . . . . . 1/1:-195.144,-35.9363,0:103:5:91:2821:80:5,91 . . . . . . . 1/1:-122.049,-21.0721,0:62:0:58:1603:0:0,58 . . . . . . . . . . . . +chr10 18828663 . G T 2080.43 . AB=0;ABP=0;AC=51;AF=1;AN=60;AO=31;CIGAR=1X;DP=4182;DPB=34;DPRA=0;EPP=23.254;EPPR=5.18177;GTI=0;LEN=1;MEANALT=3;MQM=28.2903;MQMR=3;NS=1;NUMALT=1;ODDS=47.0294;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=973;QR=15;RO=1;RPL=17;RPP=3.64073;RPPR=5.18177;RPR=14;RUN=1;SAF=10;SAP=11.486;SAR=21;SF=1,2,4,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,22,23,26,28,29,30,31,32,33,34,35,36;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 1/1:-65.1528,-9.39369,0:34:1:31:973:15 1/1:-180.728,-24.9844,0:100:2:92:2565:45 . 1/1:-222.098,-29.6813,0:118:2:105:3064:29 1/1:-339.121,-46.1286,0:171:3:162:4959:40:3,162 0/1:-79.415,0,-64.6128:108:47:54:1612:1245:47,54 1/1:-367.656,-52.1167,0:182:1:176:5268:13 1/1:-219.732,-28.4213,0:109:2:103:2965:43 1/1:-222.854,-26.8809,0:111:3:103:3269:64:3,103 0/1:-97.9818,0,-91.7138:120:54:62:1876:1718:54,62 1/1:-395.92,-59.6888,0:221:3:206:5792:44 0/1:-109.994,0,-181.465:181:96:80:2447:2983:96,80 1/1:-524.415,-63.1565,0:247:6:231:7097:105 1/1:-190.331,-28.2968,0:97:0:94:2641:0 1/1:-272.016,-37.2619,0:144:3:134:3917:45 . 0/1:-86.2797,0,-132.819:155:78:70:2028:2313 1/1:-144.198,-20.1621,0:75:1:70:1966:14 1/1:-310.065,-40.1268,0:153:2:142:4309:44 0/1:-130.264,0,-132.056:154:74:77:2493:2189:74,77 . 1/1:-233.396,-32.7898,0:131:4:118:3382:56 1/1:-288.668,-38.9402,0:146:4:138:4155:70 . . 1/1:-469.68,-64.118,0:262:12:239:6658:186 . 1/1:-204.824,-31.0874,0:112:2:106:3126:27 0/1:-158.852,0,-221.006:238:128:104:3072:3765 0/1:-114.787,0,-94.0033:136:63:67:2032:1826 1/1:-367.548,-45.1968,0:181:5:164:4944:85 1/1:-198.051,-26.7917,0:99:0:89:2674:0 1/1:-159.34,-20.5134,0:82:2:75:2151:42 0/1:-97.9292,0,-69.5375:103:46:53:1732:1328 1/1:-160.684,-24.6845,0:86:0:82:2432:0 0/1:-71.225,0,-133.137:126:71:52:1452:2168 +chr10 18828669 . GTTTTTTTTTTTTTTTTTTTGAAGTC GTTTTTTTTTTTTTTTTTTGAAGTC,GTTTTTTTTTTTTTTTTTGAAGTC,GCTTTTTTTTTTTTTTTTTGAAGTC,GTTTTTTTTTTTTTTTTGAAGTC,GCTTTTTTTTTTTTTTTTTTGAAGTC,TTTTTTTTTTTTTTTTTTTTGAAGTC 401.60 . AB=0.25;ABP=50.7827;AC=14,9,3,3,3,2;AF=0.5;AN=44;AO=22;CIGAR=1M1D24M;DP=3021;DPB=89.2692;DPRA=0;EPP=9.32731;EPPR=4.16842;GTI=0;LEN=1;MEANALT=21;MQM=34.0909;MQMR=29.7;NS=1;NUMALT=1;ODDS=24.8812;PAIRED=0.909091;PAIREDR=0.9;PAO=3.33333;PQA=124.333;PQR=159.333;PRO=4.33333;QA=506;QR=986;RO=30;RPL=13;RPP=4.58955;RPPR=13.4334;RPR=9;RUN=1;SAF=6;SAP=12.8806;SAR=16;SF=0,3,5,6,7,8,9,10,11,12,15,16,19,20,21,23,24,25,27,29,32,34;SRF=8;SRP=17.1973;SRR=22;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*17delT\x3bNM_201593:c.*17delT\x3bNM_201596:c.*17delT\x3bNM_001167945:c.*17delT\x3bNM_201571:c.*17delT\x3bNM_201572:c.*17delT\x3bNM_001330060:c.*17delT\x3bNM_000724:c.*17delT\x3bNM_201590:c.*17delT\x3bNM_201570:c.*17delT;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34022725;CLNALLELEID=512839;CLNDN=Brugada_syndrome_4;CLNDISDB=MedGen:C2678477,OMIM:611876;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2249;ExAC_nontcga_AFR=0.2301;ExAC_nontcga_AMR=0.1706;ExAC_nontcga_EAS=0.2839;ExAC_nontcga_FIN=0.2712;ExAC_nontcga_NFE=0.2336;ExAC_nontcga_OTH=0.2309;ExAC_nontcga_SAS=0.1851;AF=0.3565;AF_popmax=0.6848;AF_male=0.3599;AF_female=0.3521;AF_raw=0.3082;AF_afr=0.3682;AF_sas=.;AF_amr=0.2383;AF_eas=0.6848;AF_nfe=0.3286;AF_fin=0.1974;AF_asj=0.3909;AF_oth=0.3396;non_topmed_AF_popmax=0.6841;non_neuro_AF_popmax=0.6848;non_cancer_AF_popmax=.;controls_AF_popmax=0.6953;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\x3d96.448897;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*17_*18delTT\x3bNM_201593:c.*17_*18delTT\x3bNM_201596:c.*17_*18delTT\x3bNM_001167945:c.*17_*18delTT\x3bNM_201571:c.*17_*18delTT\x3bNM_201572:c.*17_*18delTT\x3bNM_001330060:c.*17_*18delTT\x3bNM_000724:c.*17_*18delTT\x3bNM_201590:c.*17_*18delTT\x3bNM_201570:c.*17_*18delTT;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34022725;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2251;ExAC_nontcga_AFR=0.2451;ExAC_nontcga_AMR=0.2480;ExAC_nontcga_EAS=0.2941;ExAC_nontcga_FIN=0.2130;ExAC_nontcga_NFE=0.2146;ExAC_nontcga_OTH=0.2287;ExAC_nontcga_SAS=0.2022;AF=0.1784;AF_popmax=0.2596;AF_male=0.1759;AF_female=0.1818;AF_raw=0.1455;AF_afr=0.2011;AF_sas=.;AF_amr=0.2596;AF_eas=0.1444;AF_nfe=0.1745;AF_fin=0.1099;AF_asj=0.0864;AF_oth=0.1416;non_topmed_AF_popmax=0.2634;non_neuro_AF_popmax=0.2514;non_cancer_AF_popmax=.;controls_AF_popmax=0.2841;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\x3d96.448897;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*17_*18delinsC\x3bNM_201593:c.*17_*18delinsC\x3bNM_201596:c.*17_*18delinsC\x3bNM_001167945:c.*17_*18delinsC\x3bNM_201571:c.*17_*18delinsC\x3bNM_201572:c.*17_*18delinsC\x3bNM_001330060:c.*17_*18delinsC\x3bNM_000724:c.*17_*18delinsC\x3bNM_201590:c.*17_*18delinsC\x3bNM_201570:c.*17_*18delinsC;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=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\x3d96.448897;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*17_*19delTTT\x3bNM_201593:c.*17_*19delTTT\x3bNM_201596:c.*17_*19delTTT\x3bNM_001167945:c.*17_*19delTTT\x3bNM_201571:c.*17_*19delTTT\x3bNM_201572:c.*17_*19delTTT\x3bNM_001330060:c.*17_*19delTTT\x3bNM_000724:c.*17_*19delTTT\x3bNM_201590:c.*17_*19delTTT\x3bNM_201570:c.*17_*19delTTT;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs766355351;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1208;ExAC_nontcga_AFR=0.0977;ExAC_nontcga_AMR=0.2251;ExAC_nontcga_EAS=0.1768;ExAC_nontcga_FIN=0.1117;ExAC_nontcga_NFE=0.0747;ExAC_nontcga_OTH=0.1166;ExAC_nontcga_SAS=0.1753;AF=0.0227;AF_popmax=0.1085;AF_male=0.0221;AF_female=0.0234;AF_raw=0.0210;AF_afr=0.0159;AF_sas=.;AF_amr=0.1085;AF_eas=0.0815;AF_nfe=0.0090;AF_fin=0.0839;AF_asj=0.0727;AF_oth=0.0512;non_topmed_AF_popmax=0.1116;non_neuro_AF_popmax=0.0919;non_cancer_AF_popmax=.;controls_AF_popmax=0.125;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\x3d96.448897;ALLELE_END;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;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=CACNB2;GeneDetail.refGene=NM_201597:c.*16G>T\x3bNM_201593:c.*16G>T\x3bNM_201596:c.*16G>T\x3bNM_001167945:c.*16G>T\x3bNM_201571:c.*16G>T\x3bNM_201572:c.*16G>T\x3bNM_001330060:c.*16G>T\x3bNM_000724:c.*16G>T\x3bNM_201590:c.*16G>T\x3bNM_201570:c.*16G>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_conver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1/2:-25.098,-5.48182,-8.68797,-12.4943,0,-17.8068,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:57:5:18,11,.,.,.,.:324,209,.,.,.,.:154:5,18,11 0/1:-45.0307,0,-137.434,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:320:83:74,.,.,.,.,.:1504,.,.,.,.,.:2767:83,74 . 3/3:-29.1997,.,.,.,.,.,-25.5113,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:218:17:.,.,26,.,.,.:.,.,651,.,.,.:551:17,26 . 0/1:.,.,-52.3993,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:214:37:46,.,.,.,.,.:1025,.,.,.,.,.:1176 . . 1/2:.,.,-37.206,.,0,-12.2482,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:91:5:19,30,.,.,.,.:412,713,.,.,.,.:155 . 0/2:.,.,.,.,.,-21.7763,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:87:19:.,23,.,.,.,.:.,479,.,.,.,.:603 . . +chr10 18828670 . T C 244.70 . AB=0.25;ABP=11.6962;AC=12;AF=0.5;AN=24;AO=4;CIGAR=1X;DP=834;DPB=16;DPRA=0;EPP=5.18177;EPPR=9.52472;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=33.9167;NS=1;NUMALT=1;ODDS=2.32425;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=123;QR=262;RO=12;RPL=3;RPP=5.18177;RPPR=3.73412;RPR=1;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=1,2,13,14,17,18,26,28,31,33,35,36;SRF=4;SRP=5.9056;SRR=8;TYPE=snp;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:GL:DP:RO:AO:QA:QR . 0/1:-6.1959,0,-14.7824:16:12:4:123:262 0/1:-27.0377,0,-37.6897:55:26:22:599:643 . . . . . . . . . . 0/1:-54.6357,0,-102.102:123:61:42:1118:1684 0/1:-20.7614,0,-34.6014:46:25:15:445:723 . . 0/1:-21.4047,0,-116.583:98:68:23:724:1914 0/1:-8.82608,0,-24.4309:36:19:10:251:439 . . . . . . . 0/1:-49.3182,0,-93.5118:116:61:40:1063:1636 . 0/1:-31.9325,0,-45.5511:61:33:22:594:912 . . 0/1:-38.0386,0,-58.0744:75:39:27:790:1036 . 0/1:-65.4215,0,-19.3641:66:18:35:1008:432 . 0/1:-31.1342,0,-36.5137:57:30:22:600:853 0/1:-33.725,0,-95.0711:85:54:26:777:1533 +chr10 21074724 . T C 1570.98 . AB=0.658333;ABP=29.1404;AC=8;AF=0.5;AN=16;AO=79;CIGAR=1X;DP=1004;DPB=120;DPRA=0;EPP=17.5509;EPPR=14.9269;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=206.769;PAIRED=1;PAIREDR=0.97561;PAO=0;PQA=0;PQR=0;PRO=0;QA=2726;QR=1573;RO=41;RPL=22;RPP=36.6819;RPPR=7.30028;RPR=57;RUN=1;SAF=42;SAP=3.69747;SAR=37;SF=2,7,13,17,28,34,35,36;SRF=19;SRP=3.48696;SRR=22;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . 0/1:-201.91,0,-99.9517:120:41:79:2726:1573 . . . . 0/1:-174.707,0,-289.683:181:107:74:2631:4011 . . . . . 0/1:-200.971,0,-187.441:150:72:78:2823:2689 . . . 0/1:-244.72,0,-128.827:143:53:90:3310:1987 . . . . . . . . . . 0/1:-125.538,0,-105.421:94:42:52:1757:1556 . . . . . 0/1:-117.071,0,-170.858:113:64:48:1730:2367 0/1:-100.681,0,-96.1557:76:36:40:1415:1375 0/1:-169.836,0,-159.283:127:62:65:2391:2295 +chr10 21076100 . C A 1277.37 . AB=0.391304;ABP=19.5324;AC=1;AF=0.5;AN=2;AO=63;CIGAR=1X;DP=161;DPB=161;DPRA=0;EPP=3.872;EPPR=6.20103;GTI=0;LEN=1;MEANALT=1;MQM=41.7143;MQMR=41.5714;NS=1;NUMALT=1;ODDS=294.124;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2239;QR=3538;RO=98;RPL=7;RPP=85.7675;RPPR=105.468;RPR=56;RUN=1;SAF=34;SAP=3.872;SAR=29;SF=7;SRF=58;SRP=10.1895;SRR=40;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-144.984,0,-256.648:161:98:63:2239:3538 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21097546 . G A 2375.28 . AB=0.469697;ABP=4.58955;AC=1;AF=0.5;AN=2;AO=93;CIGAR=1X;DP=198;DPB=198;DPRA=0;EPP=3.59403;EPPR=4.68544;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=546.929;PAIRED=0.978495;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3523;QR=3893;RO=105;RPL=54;RPP=8.26386;RPPR=18.0865;RPR=39;RUN=1;SAF=49;SAP=3.59403;SAR=44;SF=20;SRF=59;SRP=6.50534;SRR=46;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon26:c.C2654T:p.S885F;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143584663;CLNALLELEID=54662;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=Likely_benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.733;Polyphen2_HVAR_rankscore=0.536;Polyphen2_HVAR_pred=P;LRT_score=0.012;LRT_converted_rankscore=0.293;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.44;MutationAssessor_score_rankscore=0.710;MutationAssessor_pred=M;FATHMM_score=3.26;FATHMM_converted_rankscore=0.067;FATHMM_pred=T;PROVEAN_score=-3.19;PROVEAN_converted_rankscore=0.646;PROVEAN_pred=D;VEST3_score=0.507;VEST3_rankscore=0.558;MetaSVM_score=-1.169;MetaSVM_rankscore=0.006;MetaSVM_pred=T;MetaLR_score=0.046;MetaLR_rankscore=0.198;MetaLR_pred=T;M-CAP_score=0.021;M-CAP_rankscore=0.434;M-CAP_pred=T;REVEL_score=0.226;REVEL_rankscore=0.529;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.526;CADD_raw_rankscore=0.899;CADD_phred=31;DANN_score=0.998;DANN_rankscore=0.920;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.731;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.576;Eigen-PC-raw=0.590;GenoCanyon_score=0.748;GenoCanyon_score_rankscore=0.233;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=5.13;GERP++_RS_rankscore=0.696;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=0.933;phastCons20way_mammalian_rankscore=0.406;SiPhy_29way_logOdds=17.133;SiPhy_29way_logOdds_rankscore=0.865;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0041;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0015;ExAC_nontcga_NFE=0.0034;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0001;AF=0.0025;AF_popmax=0.0039;AF_male=0.0026;AF_female=0.0024;AF_raw=0.0025;AF_afr=0.0006;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0039;AF_fin=0.0017;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0039;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0023803;Kaviar_AC=368;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.722990;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-244.82,0,-277.252:198:105:93:3523:3893:105,93 . . . . . . . . . . . . . . . . +chr10 21106525 . A G 1611.55 . AB=0.451613;ABP=6.16244;AC=1;AF=0.5;AN=2;AO=70;CIGAR=1X;DP=155;DPB=155;DPRA=0;EPP=3.50664;EPPR=3.03585;GTI=0;LEN=1;MEANALT=1;MQM=41.6857;MQMR=41.7765;NS=1;NUMALT=1;ODDS=371.073;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2530;QR=3183;RO=85;RPL=15;RPP=52.644;RPPR=37.9838;RPR=55;RUN=1;SAF=38;SAP=4.12706;SAR=32;SF=2;SRF=49;SRP=7.3277;SRR=36;TYPE=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=rs193163659;CLNALLELEID=174903;CLNDN=not_specified;CLNDISDB=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=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0007;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=0.0024;AF_male=0.0003;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0002;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;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=0.0002199;Kaviar_AC=34;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.792678;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . 0/1:-173.08,0,-227.649:155:85:70:2530:3183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21106567 . G C 970.59 . AB=0.47561;ABP=3.434;AC=1;AF=0.5;AN=2;AO=39;CIGAR=1X;DP=82;DPB=82;DPRA=0;EPP=3.51141;EPPR=5.48477;GTI=0;LEN=1;MEANALT=1;MQM=41.5128;MQMR=42;NS=1;NUMALT=1;ODDS=223.486;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1487;QR=1590;RO=43;RPL=21;RPP=3.51141;RPPR=5.48477;RPR=18;RUN=1;SAF=21;SAP=3.51141;SAR=18;SF=1;SRF=31;SRP=21.2406;SRR=12;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon21:c.C2110G:p.L704V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs751282061;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.274;SIFT_converted_rankscore=0.158;SIFT_pred=T;Polyphen2_HDIV_score=0.959;Polyphen2_HDIV_rankscore=0.532;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.446;Polyphen2_HVAR_rankscore=0.442;Polyphen2_HVAR_pred=B;LRT_score=0.075;LRT_converted_rankscore=0.213;LRT_pred=N;MutationTaster_score=0.504;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.12;MutationAssessor_score_rankscore=0.289;MutationAssessor_pred=L;FATHMM_score=0.72;FATHMM_converted_rankscore=0.510;FATHMM_pred=T;PROVEAN_score=-0.68;PROVEAN_converted_rankscore=0.195;PROVEAN_pred=N;VEST3_score=0.109;VEST3_rankscore=0.117;MetaSVM_score=-1.098;MetaSVM_rankscore=0.043;MetaSVM_pred=T;MetaLR_score=0.094;MetaLR_rankscore=0.355;MetaLR_pred=T;M-CAP_score=0.014;M-CAP_rankscore=0.343;M-CAP_pred=T;REVEL_score=0.085;REVEL_rankscore=0.252;MutPred_score=0.474;MutPred_rankscore=0.551;CADD_raw=2.705;CADD_raw_rankscore=0.386;CADD_phred=20.8;DANN_score=0.992;DANN_rankscore=0.553;fathmm-MKL_coding_score=0.752;fathmm-MKL_coding_rankscore=0.365;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.140;Eigen-PC-raw=0.201;GenoCanyon_score=0.956;GenoCanyon_score_rankscore=0.282;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=4.06;GERP++_RS_rankscore=0.464;phyloP100way_vertebrate=-0.336;phyloP100way_vertebrate_rankscore=0.078;phyloP20way_mammalian=0.953;phyloP20way_mammalian_rankscore=0.551;phastCons100way_vertebrate=0.154;phastCons100way_vertebrate_rankscore=0.235;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=11.286;SiPhy_29way_logOdds_rankscore=0.483;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=1.84e-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=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\x3d97.873810;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-102.993,0,-113.572:82:43:39:1487:1590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21108377 . C T 1828.07 . AB=0;ABP=0;AC=16;AF=1;AN=28;AO=50;CIGAR=1X;DP=1857;DPB=50;DPRA=0;EPP=3.18402;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.62;MQMR=0;NS=1;NUMALT=1;ODDS=73.9199;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1817;QR=0;RO=0;RPL=27;RPP=3.70517;RPPR=0;RPR=23;RUN=1;SAF=23;SAP=3.70517;SAR=27;SF=1,4,9,11,14,15,16,19,21,22,25,30,32,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 1/1:-157.366,-15.0515,0:50:0:50:1817:0 . . 0/1:-196.251,0,-194.283:153:78:75:2802:2766 . . . . 0/1:-128.293,0,-183.727:123:70:53:1908:2541:70,53 . 1/1:-658.02,-62.6142,0:208:0:208:7648:0 . . 0/1:-134.332,0,-141.999:110:58:52:1933:2011 0/1:-158.139,0,-162.712:122:62:60:2253:2299 0/1:-141.921,0,-151.405:115:60:55:2038:2138:60,55 . . 0/1:-226.634,0,-188.119:163:75:86:3212:2722 . 0/1:-50.7126,0,-174.726:89:65:24:890:2316:65,24 0/1:-125.233,0,-122.754:98:49:48:1785:1748 . . 0/1:-282.309,0,-329.934:238:128:110:4091:4630:128,110 . . . . 0/1:-134.987,0,-180.068:123:69:54:1986:2500 . 0/1:-143.198,0,-196.16:132:75:56:2114:2717 . . . 0/1:-128.209,0,-207.515:133:80:53:1942:2845 +chr10 21108395 . C T 2201.92 . AB=0.532164;ABP=4.54684;AC=1;AF=0.5;AN=2;AO=91;CIGAR=1X;DP=171;DPB=171;DPRA=0;EPP=4.94315;EPPR=9.95901;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.7625;NS=1;NUMALT=1;ODDS=454.179;PAIRED=0.989011;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3207;QR=2957;RO=80;RPL=40;RPP=5.89764;RPPR=3.98746;RPR=51;RUN=1;SAF=42;SAP=4.17955;SAR=49;SF=7;SRF=39;SRP=3.11887;SRR=41;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=NEBL:NM_006393:exon20:c.G2013A:p.P671P;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs781677922;CLNALLELEID=397596;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=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=4.708e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.922e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.52e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=6.369e-05;AF_popmax=0.0001;AF_male=5.723e-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=7.343e-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=Name\x3d97.167033;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-227.39,0,-204.567:171:80:91:3207:2957 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21112111 . A T 1491.96 . AB=0.443038;ABP=5.23675;AC=18;AF=0.5;AN=30;AO=35;CIGAR=1X;DP=1392;DPB=79;DPRA=0;EPP=3.56868;EPPR=12.6832;GTI=0;LEN=1;MEANALT=1;MQM=41.4571;MQMR=42;NS=1;NUMALT=1;ODDS=188.033;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1327;QR=1677;RO=44;RPL=12;RPP=10.5174;RPPR=7.94546;RPR=23;RUN=1;SAF=26;SAP=20.9405;SAR=9;SF=0,3,8,13,14,18,19,20,24,25,26,29,30,32,35;SRF=30;SRP=15.6443;SRR=14;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-90.1596,0,-121.482:79:44:35:1327:1677:44,35 . . 0/1:-115.519,0,-89.1129:76:34:42:1596:1292:34,42 . . . . 0/1:-80.6113,0,-87.4755:62:32:30:1145:1225 . . . . 0/1:-212.049,0,-205.794:160:78:82:3013:2948 0/1:-106.861,0,-61.1505:62:24:38:1448:921 . . . 0/1:-87.8411,0,-106.01:72:39:33:1264:1472 0/1:-119.227,0,-97.6884:82:37:45:1655:1413 1/1:-226.73,-21.0721,0:70:0:70:2615:0:0,70 . . . 1/1:-214.765,-20.169,0:67:0:67:2473:0:0,67 0/1:-250.217,0,-216.843:176:82:94:3496:3119:82,94 0/1:-128.107,0,-192.685:128:75:53:1925:2682 . . 1/1:-477.145,-45.1545,0:150:0:150:5553:0 0/1:-113.345,0,-124.378:90:46:44:1619:1748 . 0/1:-74.506,0,-82.215:59:31:28:1062:1182 . . 0/1:-74.9975,0,-84.9349:59:31:28:1069:1185 . +chr10 21112137 . A T 1496.86 . AB=0.541284;ABP=4.62396;AC=1;AF=0.5;AN=2;AO=59;CIGAR=1X;DP=109;DPB=109;DPRA=0;EPP=53.3958;EPPR=53.2147;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=267.958;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2261;QR=1859;RO=50;RPL=21;RPP=13.6468;RPPR=3.0103;RPR=38;RUN=1;SAF=26;SAP=4.81373;SAR=33;SF=7;SRF=25;SRP=3.0103;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-162.486,0,-127.872:109:50:59:2261:1859 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21115347 . A G 500.91 . AB=0.4;ABP=6.48466;AC=2;AF=0.5;AN=4;AO=16;CIGAR=1X;DP=87;DPB=40;DPRA=0;EPP=5.18177;EPPR=8.80089;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9167;NS=1;NUMALT=1;ODDS=80.1194;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=608;QR=924;RO=24;RPL=5;RPP=7.89611;RPPR=16.0391;RPR=11;RUN=1;SAF=9;SAP=3.55317;SAR=7;SF=23,33;SRF=10;SRP=4.45795;SRR=14;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-40.8855,0,-67.9228:40:24:16:608:924 . . . . . . . . . 0/1:-73.738,0,-48.8871:47:19:28:1012:727 . . . +chr10 21120096 . G A 1196.70 . AB=0.515464;ABP=3.21178;AC=1;AF=0.5;AN=2;AO=50;CIGAR=1X;DP=97;DPB=97;DPRA=0;EPP=3.18402;EPPR=6.75262;GTI=0;LEN=1;MEANALT=1;MQM=41.92;MQMR=42;NS=1;NUMALT=1;ODDS=243.668;PAIRED=1;PAIREDR=0.978723;PAO=0;PQA=0;PQR=0;PRO=0;QA=1854;QR=1708;RO=47;RPL=17;RPP=14.1282;RPPR=31.8863;RPR=33;RUN=1;SAF=41;SAP=47.4821;SAR=9;SF=6;SRF=39;SRP=47.41;SRR=8;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs375001683;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0009;ExAC_nontcga_AMR=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0002;AF_male=0.0002;AF_female=7.183e-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=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;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\x3dOREG1485482|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-131.46,0,-119.799:97:47:50:1854:1708:47,50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21120116 . A G 2072.10 . AB=0.560345;ABP=6.67934;AC=25;AF=0.5;AN=40;AO=65;CIGAR=1X;DP=2459;DPB=116;DPRA=0;EPP=4.64726;EPPR=5.09662;GTI=0;LEN=1;MEANALT=1;MQM=41.7231;MQMR=41.2941;NS=1;NUMALT=1;ODDS=276.076;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2440;QR=1941;RO=51;RPL=26;RPP=8.65613;RPPR=18.3809;RPR=39;RUN=1;SAF=48;SAP=35.1147;SAR=17;SF=0,3,6,12,13,14,16,17,18,19,20,23,24,25,26,29,30,31,33,35;SRF=37;SRP=25.534;SRR=14;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-175.14,0,-130.291:116:51:65:2440:1941:51,65 . . 1/1:-341.302,-31.3071,0:104:0:104:3950:0:0,104 . . 0/1:-144.792,0,-131.8:107:51:56:2041:1911:51,56 . . . . . 0/1:-236.441,0,-194.27:162:74:88:3306:2812:74,88 0/1:-258.433,0,-178.647:171:72:99:3610:2659 0/1:-158.828,0,-114.009:102:44:58:2190:1675 . 0/1:-100.88,0,-121.298:82:44:38:1450:1689:44,38 0/1:-155.837,0,-173.183:127:65:62:2234:2461 0/1:-83.2546,0,-113.07:75:42:33:1221:1567 0/1:-147.823,0,-129.897:108:50:58:2097:1878 0/1:-170.526,0,-199.272:142:75:67:2478:2853:75,67 . . 0/1:-115.33,0,-178.578:112:65:47:1736:2457 1/1:-279.053,-25.8886,0:86:0:86:3222:0:0,86 0/1:-225.084,0,-283.823:196:107:89:3299:3977:107,89 1/1:-564.978,-52.9813,0:178:0:176:6570:0 . . 1/1:-626.007,-56.2772,0:210:2:208:7351:76 0/1:-113.402,0,-148.153:99:55:44:1658:2053 0/1:-150.398,0,-145.74:113:55:58:2129:2077 . 1/1:-257.944,-24.6845,0:82:0:82:3010:0 . 0/1:-119.357,0,-111.048:87:43:44:1682:1582 . +chr10 21134282 . C G 1398.07 . AB=0.463158;ABP=4.13032;AC=10;AF=0.5;AN=18;AO=44;CIGAR=1X;DP=913;DPB=95;DPRA=0;EPP=10.1169;EPPR=29.6215;GTI=0;LEN=1;MEANALT=1;MQM=41.9091;MQMR=42;NS=1;NUMALT=1;ODDS=254.204;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1690;QR=1841;RO=51;RPL=26;RPP=6.16881;RPPR=3.3935;RPR=18;RUN=1;SAF=22;SAP=3.0103;SAR=22;SF=3,6,12,16,17,23,26,31,33;SRF=29;SRP=5.09662;SRR=22;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-117.379,0,-130.785:95:51:44:1690:1841:51,44 . . 0/1:-92.8295,0,-76.2051:64:30:34:1295:1101:30,34 . . . . . 0/1:-173.175,0,-237.605:154:87:67:2543:3288:87,67 . . . 0/1:-130.777,0,-81.0514:80:32:48:1818:1217:32,48 0/1:-127.029,0,-104.546:89:40:49:1789:1534 . . . . . 0/1:-147.909,0,-156.429:117:59:57:2113:2215 . . 0/1:-151.527,0,-198.912:141:76:65:2231:2790 . . . . 0/1:-117.174,0,-118.692:90:44:45:1665:1683 . 1/1:-265.193,-24.9855,0:83:0:83:3090:0 . . . +chr10 21139389 . T C 646.03 . AB=0.3;ABP=13.4334;AC=10;AF=0.5;AN=18;AO=9;CIGAR=1X;DP=450;DPB=30;DPRA=0;EPP=9.04217;EPPR=3.94093;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=33.8763;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=351;QR=794;RO=21;RPL=2;RPP=9.04217;RPPR=8.07707;RPR=7;RUN=1;SAF=5;SAP=3.25157;SAR=4;SF=3,6,12,16,17,23,26,31,33;SRF=10;SRP=3.1137;SRR=11;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-21.5025,0,-59.9632:30:21:9:351:794:21,9 . . 0/1:-62.524,0,-29.93:36:14:22:847:466:14,22 . . . . . 0/1:-65.1792,0,-121.905:73:44:29:1016:1663:44,29 . . . 0/1:-55.9979,0,-65.7783:46:25:21:806:928:25,21 0/1:-56.5919,0,-43.832:39:17:22:785:654 . . . . . 0/1:-61.8624,0,-60.1023:45:22:23:868:851 . . 0/1:-108.307,0,-104.524:85:42:42:1554:1511 . . . . 0/1:-81.3253,0,-67.9988:58:27:31:1139:983 . 1/1:-122.475,-11.4391,0:38:0:38:1416:0 . . . +chr10 21141440 . AGGGAGGGT AGGAGGGT 301.70 . AB=0.416667;ABP=4.45795;AC=14;AF=0.5;AN=24;AO=10;CIGAR=1M1D7M;DP=335;DPB=22.8889;DPRA=0;EPP=3.87889;EPPR=3.63072;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=32.0931;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=310;QR=485;RO=14;RPL=2;RPP=10.8276;RPPR=12.937;RPR=8;RUN=1;SAF=8;SAP=10.8276;SAR=2;SF=0,13,14,18,19,20,24,25,26,29,30,35;SRF=11;SRP=12.937;SRR=3;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 0/1:-20.2723,0,-35.5792:24:14:10:310:485:14,10 . . . . . . . . . . . . 0/1:.,.,-59.7838:44:24:19:658:860 0/1:.,.,-43.9615:25:17:8:283:585 . . . 0/1:.,.,-27.313:21:11:10:249:388 0/1:.,.,-17.0338:20:8:12:417:266 0/1:-20.3128,0,-45.1915:27:17:9:320:603:17,9 . . . 1/1:-45.2928,-5.11751,0:15:0:15:516:0:0,15 0/1:-40.8148,0,-34.7049:37:15:17:585:512:15,17 0/1:.,.,-45.5468:34:19:14:437:634 . . 1/1:.,.,0:54:0:52:1722:0 0/1:.,.,-12.7316:17:6:11:333:207 . . . . 0/1:.,.,-22.5296:17:9:8:302:312 . +chr10 21141469 . T C 1439.44 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=39;CIGAR=1X;DP=1934;DPB=39;DPRA=0;EPP=9.74743;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=58.6707;PAIRED=0.974359;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1436;QR=0;RO=0;RPL=5;RPP=49.8362;RPPR=0;RPR=34;RUN=1;SAF=30;SAP=27.5646;SAR=9;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-125,-11.7402,0:39:0:39:1436:0:0,39 1/1:-68.3119,-6.92369,0:23:0:23:783:0 1/1:-174.183,-17.4597,0:58:0:58:2009:0 1/1:-151.335,-14.7505,0:49:0:49:1738:0:0,49 1/1:-112.125,-10.8371,0:36:0:36:1289:0 1/1:-181.777,-17.1587,0:57:0:57:2091:0:0,57 1/1:-133.531,-12.9443,0:43:0:43:1532:0:0,43 1/1:-175.488,-16.8577,0:56:0:56:2016:0 1/1:-150.783,-14.4494,0:48:0:48:1731:0 1/1:-142.325,-13.5464,0:46:0:45:1639:0:0,45 1/1:-126.426,-12.3422,0:42:0:41:1451:0:0,41 1/1:-282.836,-28.8989,0:96:0:96:3252:0 1/1:-199.418,-19.868,0:67:0:66:2290:0:0,66 1/1:-251.077,-24.6845,0:82:0:82:2952:0 1/1:-149.376,-14.4494,0:48:0:48:1712:0 1/1:-169.766,-17.1587,0:57:0:57:1945:0 1/1:-140.897,-13.8474,0:48:0:46:1627:0:0,46 1/1:-225.49,-21.3731,0:72:0:71:2596:0 1/1:-119.662,-12.0412,0:40:0:40:1366:0 1/1:-107.946,-10.8371,0:36:0:36:1236:0 1/1:-180.013,-17.1587,0:57:0:57:2074:0:0,57 1/1:-138.926,-13.8474,0:46:0:46:1606:0:0,46 1/1:-148.799,-15.0515,0:50:0:50:1706:0 1/1:-167.225,-14.7583,0:55:1:54:1957:18 1/1:-91.6655,-8.72987,0:29:0:29:1053:0:0,29 1/1:-250.874,-25.2865,0:85:0:84:2949:0:0,84 1/1:-187.438,-18.9649,0:64:0:63:2143:0 1/1:-191.708,-18.6639,0:62:0:62:2199:0:0,62 1/1:-143.259,-13.8474,0:46:0:46:1653:0 1/1:-271.38,-27.9958,0:94:0:93:3129:0 1/1:-106.512,-10.8371,0:36:0:36:1218:0 1/1:-153.255,-15.0515,0:50:0:50:1762:0 1/1:-116.681,-11.1381,0:38:0:37:1353:0 1/1:-156.448,-15.0515,0:50:0:50:1797:0 1/1:-135.634,-13.2453,0:44:0:44:1556:0 1/1:-95.7482,-9.0309,0:30:0:30:1100:0 1/1:-159.721,-16.2556,0:55:0:54:1834:0 +chr10 21158660 . A G 221.89 . AB=0.188811;ABP=123.292;AC=1;AF=0.5;AN=2;AO=27;CIGAR=1X;DP=143;DPB=143;DPRA=0;EPP=9.52472;EPPR=32.9616;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.8103;NS=1;NUMALT=1;ODDS=51.0918;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=991;QR=4249;RO=116;RPL=8;RPP=12.7417;RPPR=19.8579;RPR=19;RUN=1;SAF=9;SAP=9.52472;SAR=18;SF=21;SRF=45;SRP=15.6647;SRR=71;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185873503;CLNALLELEID=397208;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=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;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=0.0022;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.691e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0026;AF_male=0.0002;AF_female=7.183e-05;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0.0026;AF_nfe=6.483e-05;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=0.0011;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-42.9131,0,-323.807:143:116:27:991:4249:116,27 . . . . . . . . . . . . . . . +chr10 21177128 . G C 790.45 . AB=0.57377;ABP=5.89373;AC=1;AF=0.5;AN=2;AO=35;CIGAR=1X;DP=61;DPB=61;DPRA=0;EPP=13.4954;EPPR=15.0369;GTI=0;LEN=1;MEANALT=1;MQM=41.8857;MQMR=42;NS=1;NUMALT=1;ODDS=128.499;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1267;QR=966;RO=26;RPL=30;RPP=41.7866;RPPR=15.0369;RPR=5;RUN=1;SAF=25;SAP=16.9698;SAR=10;SF=36;SRF=20;SRP=19.3799;SRR=6;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-91.5347,0,-65.5656:61:26:35:1267:966 +chr10 21177143 . GAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT GAAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT,GAAAAAAAAACAGGAAAAAATAAATAAATAAACTT 675.68 . AB=0;ABP=0;AC=1,2;AF=1;AN=4;AO=43;CIGAR=14M1D21M;DP=81;DPB=49.75;DPRA=0;EPP=45.4803;EPPR=0;GTI=0;LEN=1;MEANALT=9;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=71.1473;PAIRED=1;PAIREDR=0;PAO=2.5;PQA=89;PQR=89;PRO=2.5;QA=1583;QR=0;RO=0;RPL=31;RPP=21.2406;RPPR=0;RPR=12;RUN=1;SAF=28;SAP=11.5447;SAR=15;SF=5,6;SRF=0;SRP=0;SRR=0;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0670927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs57918610;CLNALLELEID=54661;CLNDN=Primary_dilated_cardiomyopathy|Cardiomyopathy|not_specified;CLNDISDB=EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|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=.;ExAC_nontcga_ALL=0.0262;ExAC_nontcga_AFR=0.2129;ExAC_nontcga_AMR=0.0169;ExAC_nontcga_EAS=0.0311;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0050;ExAC_nontcga_OTH=0.0234;ExAC_nontcga_SAS=0.0085;AF=0.0909;AF_popmax=0.2625;AF_male=0.0929;AF_female=0.0882;AF_raw=0.0649;AF_afr=0.2625;AF_sas=.;AF_amr=0.0264;AF_eas=0.0300;AF_nfe=0.0042;AF_fin=0;AF_asj=0.0041;AF_oth=0.0282;non_topmed_AF_popmax=0.2617;non_neuro_AF_popmax=0.2690;non_cancer_AF_popmax=.;controls_AF_popmax=0.2714;Kaviar_AF=0.0010284;Kaviar_AC=159;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=0.540535;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:GL:DP:RO:AO:QA:QR:AD . . . . . 2/2:-137.371,.,.,-15.9546,.,0:51:0:.,43:.,1583:0:0,43 0/1:.,.,-48.7211,.,.,.:30:18:10,.:301,.:656:18,10 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21177156 . GAAAAAAATAAATAAATAAACTT GAAAAAATAAATAAATAAACTT 1142.44 . AB=0.415385;ABP=7.05258;AC=46;AF=0.5;AN=58;AO=27;CIGAR=1M1D21M;DP=1691;DPB=63.913;DPRA=0;EPP=45.5551;EPPR=25.8679;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=101.422;PAIRED=1;PAIREDR=1;PAO=0.5;PQA=18;PQR=18;PRO=0.5;QA=913;QR=1390;RO=38;RPL=23;RPP=32.0437;RPPR=41.6397;RPR=4;RUN=1;SAF=21;SAP=21.1059;SAR=6;SF=0,1,2,4,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,25,27,28,30,31,32,34,35,36;SRF=23;SRP=6.66752;SRR=15;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 0/1:-59.5758,0,-101.283:65:38:27:913:1390:38,27 1/1:.,.,0:20:0:20:650:0 1/1:.,.,0:54:0:53:1794:0 . 1/1:.,.,0:45:0:44:1499:0 . . 1/1:.,.,0:46:0:46:1590:0 1/1:.,.,0:50:0:49:1737:0 1/1:-108.34,-10.5361,0:36:0:35:1246:0:0,35 1/1:-131.78,-17.1587,0:46:0:45:1514:0:0,45 1/1:.,.,0:80:0:78:2668:0 0/1:-64.7655,0,-80.0613:59:31:26:957:1127:31,26 0/1:.,.,-123.274:108:51:55:1777:1811 0/1:.,.,-26.7402:45:13:30:1032:474 1/1:.,.,0:57:0:53:1828:0 0/1:-58.6966,0,-51.8311:50:21:24:842:775:21,24 0/1:.,.,-67.003:63:28:33:1222:987 . 0/1:.,.,-68.5372:62:28:32:1121:998 0/1:-48.4597,0,-68.8211:51:26:21:740:975:26,21 1/1:-127.259,-12.8284,0:50:1:44:1486:28:1,44 1/1:.,.,0:61:1:58:1929:27 0/1:.,.,-102.354:72:39:31:1097:1439 . 0/1:-125.274,0,-114.926:102:46:53:1816:1698:46,53 . 1/1:-259.615,-33.1133,0:92:0:90:2977:0:0,90 1/1:.,.,0:58:0:58:1969:0 . 0/1:.,.,-31.2968:54:16:37:1222:559 1/1:.,.,0:59:1:57:1971:38 1/1:.,.,0:54:0:53:1813:0 . 1/1:.,.,0:55:1:54:1912:29 0/1:.,.,-45.3814:41:18:23:748:667 1/1:.,.,0:56:0:55:1875:0 +chr10 21178889 . G T 876.24 . AB=0.447059;ABP=5.07959;AC=1;AF=0.5;AN=2;AO=38;CIGAR=1X;DP=85;DPB=85;DPRA=0;EPP=21.525;EPPR=47.41;GTI=0;LEN=1;MEANALT=1;MQM=41.8421;MQMR=42;NS=1;NUMALT=1;ODDS=201.761;PAIRED=1;PAIREDR=0.978723;PAO=0;PQA=0;PQR=0;PRO=0;QA=1427;QR=1808;RO=47;RPL=24;RPP=8.7247;RPPR=27.4509;RPR=14;RUN=1;SAF=28;SAP=21.525;SAR=10;SF=0;SRF=35;SRP=27.4509;SRR=12;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41277376;CLNALLELEID=54649;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=0.0010;dbscSNV_RF_SCORE=0.128;esp6500siv2_ea=0.0070;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0046;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0006;AF=0.0025;AF_popmax=0.0046;AF_male=0.0026;AF_female=0.0024;AF_raw=0.0025;AF_afr=0.0006;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0046;AF_fin=0.0003;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0047;non_cancer_AF_popmax=.;controls_AF_popmax=0.0031;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:GL:DP:RO:AO:QA:QR:AD 0/1:-97.8754,0,-130.646:85:47:38:1427:1808:47,38 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 21462711 . C T 10.53 . AB=0.666667;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1.33013;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=53;QR=38;RO=1;RPL=1;RPP=3.0103;RPPR=5.18177;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=29;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEBL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=NEBL:NM_001173484:exon1:c.G52A:p.V18I,NEBL:NM_213569:exon1:c.G52A:p.V18I;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.29;SIFT_converted_rankscore=0.150;SIFT_pred=T;Polyphen2_HDIV_score=0.018;Polyphen2_HDIV_rankscore=0.165;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=0.805;MutationTaster_converted_rankscore=0.290;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-2.39;FATHMM_converted_rankscore=0.884;FATHMM_pred=D;PROVEAN_score=0.09;PROVEAN_converted_rankscore=0.059;PROVEAN_pred=N;VEST3_score=0.06;VEST3_rankscore=0.051;MetaSVM_score=-0.545;MetaSVM_rankscore=0.670;MetaSVM_pred=T;MetaLR_score=0.409;MetaLR_rankscore=0.758;MetaLR_pred=T;M-CAP_score=0.664;M-CAP_rankscore=0.972;M-CAP_pred=D;REVEL_score=0.285;REVEL_rankscore=0.608;MutPred_score=0.582;MutPred_rankscore=0.709;CADD_raw=4.391;CADD_raw_rankscore=0.588;CADD_phred=24.1;DANN_score=0.988;DANN_rankscore=0.459;fathmm-MKL_coding_score=0.537;fathmm-MKL_coding_rankscore=0.292;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.555;Eigen-PC-raw=-0.386;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=3.2;GERP++_RS_rankscore=0.357;phyloP100way_vertebrate=2.901;phyloP100way_vertebrate_rankscore=0.481;phyloP20way_mammalian=0.783;phyloP20way_mammalian_rankscore=0.315;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=12.261;SiPhy_29way_logOdds_rankscore=0.538;Interpro_domain=Zinc_finger,_LIM-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dENSR00000025357|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1485481|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.475299;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-3.96369,0,-2.75139:3:1:2:53:38 . . . . . . . +chr10 67726514 . A C 1476.05 . AB=0.354167;ABP=11.8771;AC=22;AF=0.5;AN=42;AO=17;CIGAR=1X;DP=2473;DPB=48;DPRA=0;EPP=3.13803;EPPR=3.08035;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=79.5959;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=648;QR=1186;RO=31;RPL=13;RPP=13.3567;RPPR=11.486;RPR=4;RUN=1;SAF=6;SAP=6.20364;SAR=11;SF=1,2,3,5,7,8,9,10,11,13,14,16,19,21,23,24,25,26,31,33,34;SRF=14;SRP=3.64073;SRR=17;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-41.8873,0,-88.2304:48:31:17:648:1186 0/1:-142.967,0,-146.087:109:55:54:2032:2066 0/1:-84.6422,0,-127.167:78:45:33:1251:1747:45,33 . 0/1:-179.305,0,-224.989:151:83:68:2606:3134:83,68 . 0/1:-198.729,0,-201.373:154:77:77:2830:2879 0/1:-133.595,0,-93.2305:86:36:50:1843:1393 0/1:-130.665,0,-77.9465:80:32:48:1788:1222:32,48 1/1:-368.298,-32.3185,0:113:1:112:4303:17:1,112 0/1:-220.759,0,-258.695:183:97:86:3190:3646 . 0/1:-290.894,0,-268.062:212:101:111:4117:3847 0/1:-72.0537,0,-117.194:70:42:28:1076:1614 . 0/1:-169.168,0,-122.706:108:47:61:2338:1795:47,61 . . 0/1:-125.723,0,-180.027:114:64:50:1848:2489 . 0/1:-29.2144,0,-215.729:91:74:17:652:2813:74,17 . 0/1:-148.913,0,-197.955:131:74:57:2197:2784 0/1:-130.926,0,-100.701:87:39:48:1817:1464:39,48 0/1:-311.313,0,-284.863:227:108:119:4420:4116:108,119 0/1:-161.2,0,-186.085:138:71:67:2334:2645 . . . . 0/1:-118.232,0,-174.078:110:63:47:1746:2400 . 0/1:-85.2254,0,-93.1418:67:34:33:1215:1311 0/1:-147.762,0,-164.069:116:60:56:2125:2308 . . +chr10 68040240 . G T 856.02 . AB=0.458824;ABP=4.26209;AC=2;AF=0.5;AN=4;AO=39;CIGAR=1X;DP=148;DPB=85;DPRA=0;EPP=5.73856;EPPR=6.03148;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=221.012;PAIRED=1;PAIREDR=0.978261;PAO=0;PQA=0;PQR=0;PRO=0;QA=1492;QR=1704;RO=46;RPL=17;RPP=4.40227;RPPR=15.095;RPR=22;RUN=1;SAF=27;SAP=15.538;SAR=12;SF=10,31;SRF=30;SRP=12.2627;SRR=16;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-103.516,0,-122.141:85:46:39:1492:1704:46,39 . . . . . . . . . . . . . . . . . . . . 0/1:-82.7486,0,-84.7453:63:32:31:1172:1196 . . . . . +chr10 68040325 . C T 1700.72 . AB=0;ABP=0;AC=30;AF=1;AN=50;AO=65;CIGAR=1X;DP=2652;DPB=65;DPRA=0;EPP=5.71629;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9077;MQMR=0;NS=1;NUMALT=1;ODDS=94.7143;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2414;QR=0;RO=0;RPL=35;RPP=3.84548;RPPR=0;RPR=30;RUN=1;SAF=34;SAP=3.31097;SAR=31;SF=0,2,4,5,6,7,8,10,12,13,14,19,20,21,23,25,27,28,29,30,31,32,33,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-209.173,-19.567,0:65:0:65:2414:0:0,65 . 0/1:-140.389,0,-173.596:120:65:55:2038:2419 . 0/1:-98.408,0,-65.8484:64:26:38:1383:979 0/1:-148.339,0,-189.171:127:70:57:2154:2632:70,57 0/1:-76.4388,0,-94.5282:65:36:29:1107:1312:36,29 0/1:-91.8185,0,-167.712:104:64:40:1417:2317 1/1:-226.527,-21.6742,0:72:0:72:2666:0 . 0/1:-121.666,0,-151.102:106:57:49:1769:2113:57,49 . 0/1:-235.021,0,-203.969:169:80:89:3353:2940:80,89 1/1:-482.286,-45.1545,0:150:0:150:5596:0 0/1:-86.9405,0,-99.8049:70:37:33:1249:1393 . . . . 0/1:-154.998,0,-80.1076:89:33:56:2115:1232 0/1:-169.182,0,-149.023:120:57:63:2379:2138:57,63 0/1:-36.0878,0,-180.102:85:65:20:706:2366:65,20 . 0/1:-99.4924,0,-149.898:93:54:39:1473:2059 . 0/1:-254.99,0,-254.722:197:99:98:3633:3624:99,98 . 1/1:-488.966,-43.3585,0:157:1:154:5683:38:1,154 0/1:-92.1558,0,-135.005:87:51:36:1365:1855 0/1:-257.229,0,-221.603:184:87:97:3629:3192 0/1:-111.489,0,-107.208:84:41:42:1577:1526 0/1:-110.151,0,-130.465:93:50:43:1591:1824 0/1:-111.487,0,-152.691:103:59:44:1646:2155 0/1:-87.7023,0,-74.8278:61:29:32:1224:1071 . 0/1:-87.175,0,-48.1928:50:19:31:1179:729 1/1:-433.113,-37.5866,0:137:1:136:5043:38 +chr10 68280453 . T A 2361.85 . AB=0.604027;ABP=17.0156;AC=1;AF=0.5;AN=2;AO=90;CIGAR=1X;DP=149;DPB=149;DPRA=0;EPP=4.55446;EPPR=4.81373;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=306.385;PAIRED=1;PAIREDR=0.966102;PAO=0;PQA=0;PQR=0;PRO=0;QA=3337;QR=2162;RO=59;RPL=37;RPP=9.18693;RPPR=26.0132;RPR=53;RUN=1;SAF=46;SAP=3.10681;SAR=44;SF=7;SRF=32;SRP=3.93042;SRR=27;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CTNNA3:NM_001127384:exon11:c.A1453T:p.T485S,CTNNA3:NM_013266:exon11:c.A1453T:p.T485S;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140913916;CLNALLELEID=397763;CLNDN=Arrhythmogenic_right_ventricular_dysplasia,_familial,_13;CLNDISDB=MedGen:C3810138,OMIM:615616;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;SIFT_score=0.455;SIFT_converted_rankscore=0.088;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.304;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.015;Polyphen2_HVAR_rankscore=0.301;Polyphen2_HVAR_pred=B;LRT_score=0.001;LRT_converted_rankscore=0.426;LRT_pred=D;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=1.28;FATHMM_converted_rankscore=0.360;FATHMM_pred=T;PROVEAN_score=0.27;PROVEAN_converted_rankscore=0.043;PROVEAN_pred=N;VEST3_score=0.294;VEST3_rankscore=0.354;MetaSVM_score=-1.056;MetaSVM_rankscore=0.127;MetaSVM_pred=T;MetaLR_score=0.039;MetaLR_rankscore=0.169;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.258;M-CAP_pred=T;REVEL_score=0.048;REVEL_rankscore=0.137;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.014;CADD_raw_rankscore=0.191;CADD_phred=10.74;DANN_score=0.596;DANN_rankscore=0.061;fathmm-MKL_coding_score=0.630;fathmm-MKL_coding_rankscore=0.317;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.505;Eigen-PC-raw=-0.384;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.035;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=4.23;GERP++_RS_rankscore=0.492;phyloP100way_vertebrate=1.855;phyloP100way_vertebrate_rankscore=0.388;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.917;phastCons100way_vertebrate_rankscore=0.316;phastCons20way_mammalian=0.055;phastCons20way_mammalian_rankscore=0.167;SiPhy_29way_logOdds=6.706;SiPhy_29way_logOdds_rankscore=0.223;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;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0003;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=0.0016;AF_fin=0.0017;AF_asj=0;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=0.0010867;Kaviar_AC=168;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.971233;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-244.777,0,-143.204:149:59:90:3337:2162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 68979348 . T C 1127.85 . AB=0.566265;ABP=6.17594;AC=1;AF=0.5;AN=2;AO=47;CIGAR=1X;DP=83;DPB=83;DPRA=0;EPP=13.4056;EPPR=11.6962;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9444;NS=1;NUMALT=1;ODDS=181.858;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1754;QR=1366;RO=36;RPL=10;RPP=36.6912;RPPR=37.7539;RPR=37;RUN=1;SAF=37;SAP=36.6912;SAR=10;SF=14;SRF=30;SRP=37.7539;SRR=6;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CTNNA3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0323482;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs77409659;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0098;ExAC_nontcga_AFR=0.0937;ExAC_nontcga_AMR=0.0078;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0010;ExAC_nontcga_OTH=0.0046;ExAC_nontcga_SAS=0.0004;AF=0.0243;AF_popmax=0.0835;AF_male=0.0253;AF_female=0.0230;AF_raw=0.0243;AF_afr=0.0835;AF_sas=.;AF_amr=0.0106;AF_eas=0;AF_nfe=0.0010;AF_fin=0;AF_asj=0.0034;AF_oth=0.0092;non_topmed_AF_popmax=0.0830;non_neuro_AF_popmax=0.0887;non_cancer_AF_popmax=.;controls_AF_popmax=0.0884;Kaviar_AF=0.009159;Kaviar_AC=1416;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-126.998,0,-93.1871:83:36:47:1754:1366 . . . . . . . . . . . . . . . . . . . . . . +chr10 69281585 . A C 1319.18 . AB=0.489796;ABP=3.05462;AC=8;AF=0.5;AN=16;AO=24;CIGAR=1X;DP=926;DPB=49;DPRA=0;EPP=6.26751;EPPR=3.09716;GTI=0;LEN=1;MEANALT=1;MQM=41.9167;MQMR=42;NS=1;NUMALT=1;ODDS=129.517;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=911;QR=925;RO=25;RPL=13;RPP=3.37221;RPPR=7.26639;RPR=11;RUN=1;SAF=20;SAP=26.1727;SAR=4;SF=1,6,10,20,26,30,33,36;SRF=21;SRP=28.1125;SRR=4;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-64.3324,0,-65.6558:49:25:24:911:925 . . . . 0/1:-126.437,0,-140.33:104:54:50:1812:1976:54,50 . . . 0/1:-132.932,0,-150.66:106:56:50:1904:2110:56,50 . . . . . . . . . 0/1:-179.188,0,-223.23:153:83:70:2602:3110:83,70 . . . . . 0/1:-276.916,0,-181.075:188:79:109:3861:2729 . . . 0/1:-102.873,0,-163.044:104:62:41:1546:2267 . . 0/1:-109.68,0,-117.704:93:49:44:1584:1688 . . 0/1:-160.21,0,-164.647:129:65:64:2288:2343 +chr10 69281732 . A G 1810.41 . AB=0.469697;ABP=3.53672;AC=3;AF=0.5;AN=6;AO=31;CIGAR=1X;DP=406;DPB=66;DPRA=0;EPP=8.68415;EPPR=3.56868;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=171.282;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1166;QR=1318;RO=35;RPL=16;RPP=3.08035;RPPR=4.56135;RPR=15;RUN=1;SAF=11;SAP=8.68415;SAR=20;SF=14,25,30;SRF=14;SRP=6.05036;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-81.1106,0,-94.3142:66:35:31:1166:1318 . . . . . . . . . . 0/1:-369.927,0,-264.14:243:104:138:5134:3900:104,138 . . . . 0/1:-124.566,0,-121.248:97:48:49:1771:1735 . . . . . . +chr10 69299372 . T G 2309.57 . AB=0.473868;ABP=4.71267;AC=2;AF=0.5;AN=4;AO=136;CIGAR=1X;DP=404;DPB=287;DPRA=0;EPP=9.39698;EPPR=13.4938;GTI=0;LEN=1;MEANALT=1;MQM=41.7132;MQMR=41.5828;NS=1;NUMALT=1;ODDS=788.791;PAIRED=0.992647;PAIREDR=0.980132;PAO=0;PQA=0;PQR=0;PRO=0;QA=5047;QR=5585;RO=151;RPL=66;RPP=3.26577;RPPR=24.8832;RPR=70;RUN=1;SAF=72;SAP=4.03217;SAR=64;SF=25,30;SRF=75;SRP=3.02468;SRR=76;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-350.325,0,-393.371:287:151:136:5047:5585:151,136 . . . . 0/1:-126.051,0,-178.61:117:67:50:1858:2471 . . . . . . +chr10 69299446 . T A 1080.05 . AB=0.359223;ABP=20.7405;AC=6;AF=0.5;AN=12;AO=37;CIGAR=1X;DP=595;DPB=103;DPRA=0;EPP=24.1968;EPPR=18.9344;GTI=0;LEN=1;MEANALT=1;MQM=41.4865;MQMR=42;NS=1;NUMALT=1;ODDS=180.633;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1385;QR=2482;RO=66;RPL=22;RPP=5.88603;RPPR=61.0478;RPR=15;RUN=1;SAF=13;SAP=10.1116;SAR=24;SF=4,13,14,25,30,35;SRF=32;SRP=3.1419;SRR=34;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-89.129,0,-183.658:103:66:37:1385:2482 . . . . . . . . 0/1:-144.265,0,-125.631:103:48:55:2025:1824 0/1:-73.1256,0,-85.8998:62:32:30:1054:1204 . . . . . . . . . . 0/1:-240.395,0,-312.077:210:115:95:3498:4359:115,95 . . . . 0/1:-73.336,0,-78.7786:59:30:29:1046:1111 . . . . 0/1:-95.0585,0,-59.4068:58:23:35:1309:888 . +chr10 69366602 . T C 3265.53 . AB=0.538745;ABP=6.54395;AC=20;AF=0.5;AN=38;AO=146;CIGAR=1X;DP=5150;DPB=271;DPRA=0;EPP=20.2036;EPPR=12.3494;GTI=0;LEN=1;MEANALT=2;MQM=41.863;MQMR=41.9837;NS=1;NUMALT=1;ODDS=660.609;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5288;QR=4452;RO=123;RPL=44;RPP=53.0434;RPPR=32.6871;RPR=102;RUN=1;SAF=112;SAP=93.4982;SAR=34;SF=2,5,8,9,10,11,13,14,18,19,21,22,25,27,28,30,31,34,35;SRF=94;SRP=77.5995;SRR=29;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-378.511,0,-305.783:271:123:146:5288:4452 . . 0/1:-395.898,0,-363.625:299:144:155:5592:5222:144,155 . . 0/1:-340.671,0,-253.642:235:103:131:4738:3748 1/1:-684.306,-64.7215,0:216:0:215:7884:0:0,215 0/1:-348.236,0,-319.991:265:127:138:4923:4608:127,138 0/1:-447.233,0,-549.641:401:214:187:6537:7713 . 0/1:-449.448,0,-534.731:389:207:182:6518:7534 0/1:-277.715,0,-276.002:218:108:110:3945:3935 . . . 0/1:-259.58,0,-275.993:209:106:102:3712:3899 0/1:-379.573,0,-388.827:305:154:149:5432:5547 . 0/1:-83.0192,0,-357.296:180:134:46:1568:4730:134,46 0/1:-250.143,0,-267.835:209:106:103:3590:3798 . . 0/1:-472.78,0,-633.762:445:248:197:6972:8829:248,197 . 0/1:-573.211,0,-456.06:413:186:227:8132:6685:186,227 0/1:-239.084,0,-368.038:243:142:101:3594:5081 . 0/1:-255.29,0,-239.252:193:94:99:3618:3426 0/1:-272.641,0,-306.878:238:126:112:3953:4350 . . 0/1:-336.901,0,-340.691:262:133:129:4794:4827 0/1:-193.925,0,-208.153:159:81:78:2779:2945 . +chr10 69881254 . A G 3440.86 . AB=0.513725;ABP=3.42756;AC=1;AF=0.5;AN=2;AO=131;CIGAR=1X;DP=255;DPB=255;DPRA=0;EPP=3.82253;EPPR=3.29049;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6935;NS=1;NUMALT=1;ODDS=727.212;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5008;QR=4655;RO=124;RPL=89;RPP=39.627;RPPR=3.08035;RPR=42;RUN=1;SAF=76;SAP=10.3204;SAR=55;SF=23;SRF=77;SRP=18.771;SRR=47;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon2:c.A59G:p.Y20C,MYPN:NM_001256267:exon3:c.A59G:p.Y20C;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140148105;CLNALLELEID=40471;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=0.002;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=0.843;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.955;MutationAssessor_score_rankscore=0.530;MutationAssessor_pred=M;FATHMM_score=-0.7;FATHMM_converted_rankscore=0.792;FATHMM_pred=T;PROVEAN_score=-2.26;PROVEAN_converted_rankscore=0.510;PROVEAN_pred=N;VEST3_score=0.952;VEST3_rankscore=0.949;MetaSVM_score=0.105;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.584;MetaLR_rankscore=0.851;MetaLR_pred=D;M-CAP_score=0.076;M-CAP_rankscore=0.725;M-CAP_pred=D;REVEL_score=0.528;REVEL_rankscore=0.803;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.316;CADD_raw_rankscore=0.719;CADD_phred=25.8;DANN_score=0.998;DANN_rankscore=0.916;fathmm-MKL_coding_score=0.969;fathmm-MKL_coding_rankscore=0.716;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.781;Eigen-PC-raw=0.798;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=6.03;GERP++_RS_rankscore=0.978;phyloP100way_vertebrate=8.683;phyloP100way_vertebrate_rankscore=0.909;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=16.558;SiPhy_29way_logOdds_rankscore=0.843;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=0.0009;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0015;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.124e-05;AF=0.0008;AF_popmax=0.0011;AF_male=0.0007;AF_female=0.0009;AF_raw=0.0008;AF_afr=0.0007;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=0.0010;non_neuro_AF_popmax=0.0012;non_cancer_AF_popmax=.;controls_AF_popmax=0.0012;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=Name\x3d99.871171;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-355.426,0,-324.218:255:124:131:5008:4655 . . . . . . . . . . . . . +chr10 69905300 . G A 1370.27 . AB=0.532787;ABP=4.14943;AC=10;AF=0.5;AN=20;AO=65;CIGAR=1X;DP=1131;DPB=122;DPRA=0;EPP=5.71629;EPPR=7.61992;GTI=0;LEN=1;MEANALT=1;MQM=41.7231;MQMR=42;NS=1;NUMALT=1;ODDS=318.695;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2427;QR=2113;RO=57;RPL=36;RPP=4.64726;RPPR=3.35316;RPR=29;RUN=1;SAF=21;SAP=20.6827;SAR=44;SF=0,1,4,8,13,14,17,20,21,23;SRF=20;SRP=14.02;SRR=37;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-172.374,0,-146.184:122:57:65:2427:2113:57,65 0/1:-88.4373,0,-90.253:68:34:34:1256:1278 . . 0/1:-208.661,0,-107.642:120:44:76:2838:1661 . . . 0/1:-93.3287,0,-134.041:87:49:38:1388:1868 . . . . 0/1:-223.692,0,-252.404:183:94:89:3232:3588 0/1:-131.264,0,-148.097:103:54:49:1876:2072 . . 0/1:-131.582,0,-164.396:112:60:52:1909:2294 . . 0/1:-139.667,0,-142.57:105:53:52:1982:2029:53,52 0/1:-71.425,0,-169.77:91:61:30:1139:2291:61,30 . 0/1:-187.584,0,-177.1:140:68:71:2652:2551 . . . . . . . . . . . . . +chr10 69908113 . C T 1074.04 . AB=0.410714;ABP=10.7656;AC=1;AF=0.5;AN=2;AO=46;CIGAR=1X;DP=112;DPB=112;DPRA=0;EPP=12.2627;EPPR=9.45891;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9697;NS=1;NUMALT=1;ODDS=247.307;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1725;QR=2430;RO=66;RPL=24;RPP=3.19912;RPPR=3.1419;RPR=22;RUN=1;SAF=28;SAP=7.73089;SAR=18;SF=8;SRF=38;SRP=6.30041;SRR=28;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYPN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYPN:NM_032578:exon5:c.C1134T:p.I378I,MYPN:NM_001256267:exon6:c.C1134T:p.I378I,MYPN:NM_001256268:exon9:c.C252T:p.I84I;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs145701607;CLNALLELEID=142118;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=0.0087;ExAC_nontcga_ALL=0.0059;ExAC_nontcga_AFR=0.0016;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0014;ExAC_nontcga_NFE=0.0073;ExAC_nontcga_OTH=0.0115;ExAC_nontcga_SAS=0.0089;AF=0.0042;AF_popmax=0.0069;AF_male=0.0041;AF_female=0.0044;AF_raw=0.0042;AF_afr=0.0010;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0069;AF_fin=0.0017;AF_asj=0.0034;AF_oth=0.0037;non_topmed_AF_popmax=0.0067;non_neuro_AF_popmax=0.0069;non_cancer_AF_popmax=.;controls_AF_popmax=0.0058;Kaviar_AF=0.0059314;Kaviar_AC=917;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.509046;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-115.499,0,-176.621:112:66:46:1725:2430 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 69908157 . T C 3584.74 . AB=0.505415;ABP=3.08085;AC=3;AF=0.5;AN=6;AO=140;CIGAR=1X;DP=772;DPB=277;DPRA=0;EPP=4.00297;EPPR=12.9167;GTI=0;LEN=1;MEANALT=1;MQM=41.7357;MQMR=41.4891;NS=1;NUMALT=1;ODDS=785.441;PAIRED=1;PAIREDR=0.992701;PAO=0;PQA=0;PQR=0;PRO=0;QA=5151;QR=5023;RO=137;RPL=81;RPP=10.5174;RPPR=3.02615;RPR=59;RUN=1;SAF=61;SAP=8.03571;SAR=79;SF=13,17,20;SRF=69;SRP=3.02615;SRR=68;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-361.829,0,-348.933:277:137:140:5151:5023 . . . 0/1:-338.428,0,-236.658:219:95:124:4674:3492 . . 0/1:-400.513,0,-317.764:276:126:150:5605:4633:126,150 . . . . . . . . . . . . . . . . +chr10 69908241 . G A 1796.27 . AB=0.508671;ABP=3.12327;AC=7;AF=0.5;AN=14;AO=88;CIGAR=1X;DP=1109;DPB=173;DPRA=0;EPP=4.58955;EPPR=8.75832;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9529;NS=1;NUMALT=1;ODDS=472.301;PAIRED=0.977273;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3235;QR=3133;RO=85;RPL=65;RPP=46.5385;RPPR=74.7711;RPR=23;RUN=1;SAF=39;SAP=5.47788;SAR=49;SF=0,1,4,8,14,21,23;SRF=40;SRP=3.64897;SRR=45;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-228.109,0,-219.801:173:85:88:3235:3133:85,88 0/1:-99.3311,0,-117.542:81:43:38:1441:1638 . . 0/1:-315.289,0,-290.13:233:112:120:4502:4157 . . . 0/1:-235.63,0,-220.419:174:83:90:3334:3149 . . . . . 0/1:-172.821,0,-201.733:145:77:68:2502:2834 . . . . . . 0/1:-51.615,0,-192.102:94:70:24:923:2537:70,24 . 0/1:-240.74,0,-310.15:209:115:94:3515:4309 . . . . . . . . . . . . . +chr10 69909802 . G A 1518.95 . AB=0.45283;ABP=5.05886;AC=5;AF=0.5;AN=10;AO=48;CIGAR=1X;DP=642;DPB=106;DPRA=0;EPP=5.9056;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9655;NS=1;NUMALT=1;ODDS=270.785;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1823;QR=2152;RO=58;RPL=15;RPP=17.6677;RPPR=8.40154;RPR=33;RUN=1;SAF=29;SAP=7.5342;SAR=19;SF=8,10,13,20,24;SRF=36;SRP=10.3484;SRR=22;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-125.939,0,-154.653:106:58:48:1823:2152 . 0/1:-122.078,0,-169.746:112:64:48:1800:2360:64,48 . . 0/1:-243.472,0,-252.519:193:97:96:3494:3593 . . . . . . 0/1:-207.105,0,-189.362:152:73:78:2920:2723:73,78 . . . 0/1:-103.129,0,-105.926:79:40:39:1460:1493:40,39 . . . . . . . . . . . . +chr10 69909844 . C A 2301.81 . AB=0.497297;ABP=3.02204;AC=1;AF=0.5;AN=2;AO=92;CIGAR=1X;DP=185;DPB=185;DPRA=0;EPP=16.6056;EPPR=5.83555;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=530.011;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3409;QR=3510;RO=93;RPL=48;RPP=3.38795;RPPR=17.6035;RPR=44;RUN=1;SAF=34;SAP=16.6056;SAR=58;SF=30;SRF=39;SRP=8.26386;SRR=54;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-239.415,0,-247.753:185:93:92:3409:3510 . . . . . . +chr10 69909899 . G A 1635.80 . AB=0.504854;ABP=3.03138;AC=5;AF=0.5;AN=10;AO=52;CIGAR=1X;DP=704;DPB=103;DPRA=0;EPP=45.7716;EPPR=25.534;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9608;NS=1;NUMALT=1;ODDS=285.677;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1998;QR=1908;RO=51;RPL=27;RPP=3.17734;RPPR=8.16222;RPR=25;RUN=1;SAF=21;SAP=7.18621;SAR=31;SF=8,10,13,20,24;SRF=17;SRP=15.3153;SRR=34;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . 0/1:-141.598,0,-134.063:103:51:52:1998:1908 . 0/1:-150.716,0,-154.823:118:59:58:2147:2211:59,58 . . 0/1:-309.315,0,-286.95:230:111:119:4383:4113 . . . . . . 0/1:-214.462,0,-216.378:165:81:84:3078:3095:81,84 . . . 0/1:-69.3632,0,-156.504:88:57:30:1102:2112:57,30 . . . . . . . . . . . . +chr10 69926097 . T C 976.38 . AB=0.511628;ABP=3.0608;AC=43;AF=0.5;AN=62;AO=22;CIGAR=1X;DP=1769;DPB=43;DPRA=0;EPP=9.32731;EPPR=8.07707;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.0952;NS=1;NUMALT=1;ODDS=98.3478;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=771;QR=749;RO=21;RPL=8;RPP=6.56362;RPPR=5.59539;RPR=14;RUN=1;SAF=19;SAP=28.2783;SAR=3;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,23,24,25,26,28,29,30,32,34,35;SRF=18;SRP=26.2761;SRR=3;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-54.4507,0,-51.1012:43:21:22:771:749:21,22 0/1:-29.2796,0,-32.1938:24:12:12:415:451 0/1:-79.3524,0,-96.4223:72:38:33:1170:1367 0/1:-47.9764,0,-94.4009:58:35:23:792:1287:35,23 1/1:-203.706,-19.2659,0:65:0:64:2363:0 1/1:-223.063,-21.6742,0:72:0:72:2563:0:0,72 1/1:-133.656,-12.6433,0:42:0:42:1536:0:0,42 0/1:-69.8241,0,-98.2711:66:38:28:1031:1355 1/1:-119.522,-11.4391,0:38:0:38:1401:0 0/1:-65.8466,0,-68.7735:51:26:25:935:965:26,25 0/1:-78.2919,0,-46.8744:49:19:30:1071:707:19,30 0/1:-63.3196,0,-123.102:73:45:28:987:1689 1/1:-285.854,-27.0927,0:90:0:90:3305:0:0,90 1/1:-247.177,-23.4803,0:78:0:78:2846:0 1/1:-137.428,-12.9443,0:43:0:43:1584:0 0/1:-76.0592,0,-80.1774:61:31:30:1091:1145 1/1:-208.687,-19.567,0:65:0:65:2404:0:0,65 0/1:-53.5016,0,-93.2005:57:34:23:808:1273 1/1:-103.305,-9.93399,0:33:0:33:1188:0 0/1:-89.5074,0,-83.7521:70:33:36:1284:1208 0/1:-91.0399,0,-108.971:78:42:36:1343:1524:42,36 . . 1/1:-175.71,-16.8577,0:56:0:56:2022:0 0/1:-23.1523,0,-38.4429:23:14:9:344:518:14,9 1/1:-239.853,-23.7814,0:79:0:79:2769:0:0,79 0/1:-126.874,0,-138.261:107:54:53:1878:1959 . 0/1:-56.8736,0,-47.505:40:18:22:790:685 0/1:-80.4509,0,-143.778:90:54:35:1241:1965 0/1:-73.5544,0,-9.30339:33:7:26:962:217 . 0/1:-77.6877,0,-47.2662:48:19:29:1074:708 . 0/1:-25.3814,0,-84.151:44:31:13:440:1118 1/1:-65.599,-6.32163,0:21:0:21:751:0 . +chr10 69926319 . C A 3373.50 . AB=0.405904;ABP=23.8516;AC=11;AF=0.5;AN=20;AO=110;CIGAR=1X;DP=2692;DPB=271;DPRA=0;EPP=3.08926;EPPR=14.3532;GTI=0;LEN=1;MEANALT=1;MQM=41.5273;MQMR=41.9752;NS=1;NUMALT=1;ODDS=606.032;PAIRED=1;PAIREDR=0.987578;PAO=0;PQA=0;PQR=0;PRO=0;QA=4122;QR=5869;RO=161;RPL=54;RPP=3.08926;RPPR=40.8964;RPR=56;RUN=1;SAF=56;SAP=3.08926;SAR=54;SF=0,1,2,4,8,14,21,23,25,28;SRF=89;SRP=6.90816;SRR=72;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-271.983,0,-428.477:271:161:110:4122:5869:161,110 0/1:-155.664,0,-203.476:139:78:61:2288:2820 0/1:-451.221,0,-358.549:319:148:170:6360:5221 . 0/1:-402.471,0,-491.19:349:189:160:5920:6870 . . . 1/1:-669.168,-57.7969,0:214:2:212:7861:72 . . . . . 0/1:-297.108,0,-344.638:248:132:115:4326:4826 . . . . . . 0/1:-39.7473,0,-326.517:146:120:26:962:4254:120,26 . 0/1:-400.954,0,-488.406:343:187:156:5870:6814 . 0/1:-490.702,0,-651.349:443:249:194:7292:9051:249,194 . . 0/1:-281.038,0,-281.474:220:110:110:4027:4002 . . . . . . . . +chr10 69926325 . C T 3230.58 . AB=0.408907;ABP=20.8129;AC=13;AF=0.5;AN=24;AO=101;CIGAR=1X;DP=3068;DPB=247;DPRA=0;EPP=3.54779;EPPR=5.92543;GTI=0;LEN=1;MEANALT=1;MQM=41.4851;MQMR=41.9726;NS=1;NUMALT=1;ODDS=560.056;PAIRED=1;PAIREDR=0.986301;PAO=0;PQA=0;PQR=0;PRO=0;QA=3806;QR=5402;RO=146;RPL=49;RPP=3.2038;RPPR=37.2779;RPR=52;RUN=1;SAF=53;SAP=3.54779;SAR=48;SF=0,1,2,4,8,13,14,20,21,23,25,28;SRF=87;SRP=14.6708;SRR=59;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-251.737,0,-393.76:247:146:101:3806:5402:146,101 0/1:-147.424,0,-184.023:126:69:57:2151:2555 0/1:-428.261,0,-324.63:292:130:160:6001:4745 . 0/1:-360.798,0,-450.152:314:170:144:5302:6286 . . . 1/1:-612.366,-57.4967,0:191:0:191:7128:0 . . . . 0/1:-457.494,0,-345.647:306:138:168:6363:5044 0/1:-271.653,0,-321.401:230:123:107:3989:4501 . . . . . 0/1:-336.582,0,-510.775:324:190:134:5029:7022:190,134 0/1:-38.5587,0,-298.087:135:110:25:911:3890:110,25 . 0/1:-369.703,0,-446.75:309:168:141:5393:6232 . 0/1:-452,0,-554.381:392:213:178:6667:7757:213,178 . . 0/1:-254.408,0,-253.153:202:99:103:3651:3619 . . . . . . . . +chr10 69926334 . C G 4673.23 . AB=0.514403;ABP=3.44817;AC=31;AF=0.5;AN=50;AO=125;CIGAR=1X;DP=6994;DPB=243;DPRA=0;EPP=3.02767;EPPR=8.97265;GTI=0;LEN=1;MEANALT=1;MQM=41.08;MQMR=41.9831;NS=1;NUMALT=1;ODDS=698.033;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4610;QR=4448;RO=118;RPL=59;RPP=3.86152;RPPR=7.72129;RPR=66;RUN=1;SAF=66;SAP=3.86152;SAR=59;SF=3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,23,24,25,26,29,30,32,34,35;SRF=63;SRP=4.18805;SRR=55;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-321.225,0,-311.07:243:118:125:4610:4448:118,125 0/1:-444.392,0,-354.296:308:142:166:6218:5241 1/1:-1172.35,-108.477,0:365:1:364:13636:14:1,364 1/1:-607.719,-56.0991,0:192:1:191:7048:17:1,191 0/1:-450.05,0,-453.074:342:173:169:6406:6433 . 0/1:-302.259,0,-323.312:235:121:114:4317:4580:121,114 0/1:-405.228,0,-398.345:304:150:154:5780:5674:150,154 0/1:-340.551,0,-497.908:329:188:140:5077:6904 1/1:-1375.7,-128.841,0:429:0:428:15998:0:0,428 0/1:-328.795,0,-447.157:295:165:129:4827:6201 0/1:-313.333,0,-270.999:220:104:116:4393:3958 0/1:-366.837,0,-414.168:302:158:144:5347:5882 1/1:-861.881,-80.676,0:269:0:268:10062:0:0,268 0/1:-365.112,0,-546.977:350:203:147:5485:7572 1/1:-477.08,-44.2514,0:147:0:147:5522:0 0/1:-439.83,0,-421.421:328:161:165:6263:6031 . . . 0/1:-439.94,0,-346.525:298:134:163:6130:5079 0/1:-162.59,0,-158.856:123:60:62:2305:2265:60,62 0/1:-546.6,0,-434.65:375:172:203:7631:6384:172,203 0/1:-405.083,0,-370.64:315:151:163:5778:5440 . . 0/1:-460.705,0,-483.511:374:190:182:6634:6894 0/1:-292.052,0,-279.059:219:106:112:4137:3986 . 0/1:-284.304,0,-388.293:258:145:113:4190:5396 . 0/1:-258.497,0,-345.055:227:127:100:3778:4782 1/1:-475.109,-44.2514,0:147:0:147:5499:0 . +chr10 69933921 . G A 5378.53 . AB=0.516234;ABP=3.71532;AC=31;AF=0.5;AN=50;AO=159;CIGAR=1X;DP=8026;DPB=308;DPRA=0;EPP=14.4959;EPPR=28.8919;GTI=0;LEN=1;MEANALT=2;MQM=41.4088;MQMR=41.1689;NS=1;NUMALT=1;ODDS=830.561;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6021;QR=5512;RO=148;RPL=111;RPP=57.2152;RPPR=39.6906;RPR=48;RUN=1;SAF=88;SAP=6.95719;SAR=71;SF=3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,23,24,25,26,29,30,32,34,35;SRF=86;SRP=11.4614;SRR=62;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-422.512,0,-374.851:308:148:159:6021:5512:148,159 0/1:-458.146,0,-460.159:352:178:174:6539:6591 1/1:-1246.51,-113.997,0:384:1:383:14520:16:1,383 1/1:-754.592,-69.839,0:232:0:232:8739:0:0,232 0/1:-466.175,0,-565.645:399:213:182:6805:7920 . 0/1:-351.875,0,-325.315:259:124:134:4964:4681:124,134 0/1:-365.888,0,-417.359:299:156:142:5300:5873:156,142 0/1:-549.836,0,-539.363:424:209:214:7876:7743 1/1:-1412.09,-130.045,0:432:0:432:16375:0:0,432 0/1:-463.991,0,-439.491:347:168:179:6642:6291 0/1:-309.631,0,-395.724:268:146:122:4524:5513 0/1:-427.522,0,-430.888:323:163:160:6083:6141 1/1:-1109.35,-103.855,0:345:0:345:12995:0:0,345 0/1:-469.282,0,-481.868:361:182:178:6713:6849 1/1:-635.609,-58.3998,0:194:0:194:7366:0 0/1:-469.626,0,-326.718:299:128:171:6502:4841 . . . 0/1:-447.965,0,-645.086:422:243:179:6676:8980 0/1:-188.268,0,-108.17:112:44:68:2583:1637:44,68 0/1:-660.094,0,-573.791:484:229:254:9383:8367:229,254 0/1:-440.659,0,-476.723:365:188:177:6437:6815 . . 0/1:-584.653,0,-528.809:444:214:227:8374:7688 0/1:-317.938,0,-358.004:262:137:123:4589:5046 . 0/1:-400.835,0,-315.009:280:128:152:5622:4647 . 0/1:-298.034,0,-403.499:265:149:116:4447:5615 1/1:-536.782,-49.971,0:166:0:166:6230:0 . +chr10 69933969 . G A 4318.26 . AB=0.541176;ABP=6.76567;AC=31;AF=0.5;AN=50;AO=138;CIGAR=1X;DP=6536;DPB=255;DPRA=0;EPP=21.2003;EPPR=25.7458;GTI=0;LEN=1;MEANALT=1;MQM=41.413;MQMR=40.6581;NS=1;NUMALT=1;ODDS=621.598;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4940;QR=4260;RO=117;RPL=93;RPP=39.2644;RPPR=47.5719;RPR=45;RUN=1;SAF=67;SAP=3.26206;SAR=71;SF=3,4,5,6,7,9,10,11,12,13,14,15,16,17,18,19,23,24,25,26,29,30,32,34,35;SRF=60;SRP=3.17734;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-347.744,0,-283.892:255:117:138:4940:4260:117,138 0/1:-366.388,0,-314.845:263:123:140:5166:4582 1/1:-916.122,-86.0946,0:286:0:286:10629:0:0,286 1/1:-561.226,-54.1854,0:181:0:180:6493:0:0,180 0/1:-415.59,0,-403.049:319:155:164:5984:5770 . 0/1:-287.191,0,-239.752:206:95:111:4037:3497:95,111 0/1:-304.487,0,-325.977:247:125:121:4393:4625:125,121 0/1:-459.555,0,-458.813:365:180:183:6599:6565 1/1:-1164.24,-108.973,0:362:0:362:13491:0:0,362 0/1:-390.362,0,-379.268:300:145:154:5576:5444 0/1:-272.503,0,-332.835:230:123:107:3945:4657 0/1:-290.82,0,-346.923:245:130:115:4213:4884 1/1:-810.88,-76.4616,0:255:0:254:9458:0:0,254 0/1:-385.913,0,-323.941:279:130:148:5447:4738 1/1:-499.931,-47.2617,0:157:0:157:5774:0 0/1:-359.203,0,-273.28:241:105:136:5011:4001 . . . 0/1:-365.766,0,-514.158:336:193:143:5424:7155 0/1:-165.914,0,-64.4303:90:29:61:2241:1053:29,61 0/1:-552.301,0,-549.95:431:215:216:7937:7874:215,216 0/1:-366.957,0,-405.102:310:159:151:5417:5767 . . 0/1:-513.729,0,-427.736:379:175:204:7307:6353 0/1:-273.042,0,-304.228:222:115:106:3942:4296 . 0/1:-343.233,0,-272.225:236:106:130:4800:3976 . 0/1:-240.935,0,-275.03:201:104:96:3530:3909 1/1:-440.133,-42.1442,0:140:0:140:5080:0 . +chr10 69934012 . C A 2908.74 . AB=0.504032;ABP=3.04532;AC=2;AF=0.5;AN=4;AO=125;CIGAR=1X;DP=471;DPB=248;DPRA=0;EPP=4.41741;EPPR=3.02795;GTI=0;LEN=1;MEANALT=1;MQM=41.552;MQMR=41.4959;NS=1;NUMALT=1;ODDS=667.25;PAIRED=1;PAIREDR=0.99187;PAO=0;PQA=0;PQR=0;PRO=0;QA=4343;QR=4312;RO=123;RPL=57;RPP=5.11229;RPPR=17.8575;RPR=68;RUN=1;SAF=48;SAP=17.62;SAR=77;SF=13,20;SRF=44;SRP=24.6368;SRR=79;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-303.447,0,-300.177:248:123:125:4343:4312 . . . . . . 0/1:-295.175,0,-263.349:223:105:118:4183:3814:105,118 . . . . . . . . . . . . . . . . +chr10 69934258 . C G 6781.87 . AB=0.443299;ABP=8.42779;AC=37;AF=0.5;AN=58;AO=86;CIGAR=1X;DP=11796;DPB=194;DPRA=0;EPP=15.2311;EPPR=4.2971;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6574;NS=1;NUMALT=1;ODDS=477.36;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3152;QR=3959;RO=108;RPL=43;RPP=3.0103;RPPR=26.2531;RPR=43;RUN=1;SAF=47;SAP=4.62628;SAR=39;SF=1,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,23,24,25,26,29,30,31,32,33,34,35,36;SRF=57;SRP=3.73412;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-215.678,0,-283.751:194:108:86:3152:3959 . 0/1:-459.642,0,-548.924:406:213:190:6714:7760:213,190 1/1:-1272.34,-124.927,0:417:0:415:14655:0 1/1:-1613.62,-155.491,0:523:1:520:18718:15:1,520 1/1:-1022.22,-100.951,0:340:1:339:11766:14:1,339 0/1:-722.385,0,-696.076:575:279:291:10384:10085 0/1:-408.3,0,-472.28:349:184:165:5940:6668 1/1:-1099.51,-107.622,0:362:1:361:12699:14:1,361 . 0/1:-599.758,0,-614.788:514:250:261:8647:8876 1/1:-1969.99,-190.327,0:641:1:635:22871:13:1,635 0/1:-571.123,0,-533.113:448:215:232:8137:7701 0/1:-421.226,0,-428.029:340:168:172:6027:6101 0/1:-527.471,0,-608.486:461:237:218:7649:8629 1/1:-1216.72,-117.703,0:393:0:391:14047:0:0,391 0/1:-681.077,0,-546.778:485:217:267:9540:7980 1/1:-826.877,-80.3692,0:278:1:276:9533:33 0/1:-592.412,0,-437.739:415:178:236:8309:6491 . . . 0/1:-595.807,0,-544.105:447:212:235:8431:7830 0/1:-313.521,0,-287.538:237:113:124:4425:4133:113,124 0/1:-707.984,0,-793.793:612:308:299:10252:11369:308,299 0/1:-432.501,0,-710.953:475:276:197:6596:9851 . . 0/1:-739.616,0,-692.149:595:282:308:10566:10079 0/1:-401.418,0,-523.751:371:200:171:5897:7322 0/1:-291.551,0,-370.936:269:145:123:4290:5202 0/1:-416.203,0,-469.447:355:180:172:6018:6630 0/1:-384.574,0,-403.108:312:157:155:5516:5724 0/1:-365.649,0,-465.1:327:175:152:5338:6510 1/1:-673.82,-65.9316,0:224:1:223:7805:15 0/1:-509.614,0,-573.749:431:220:211:7366:8124 +chr10 69934259 . G A 7499.37 . AB=0.498366;ABP=3.02449;AC=1;AF=0.5;AN=2;AO=305;CIGAR=1X;DP=612;DPB=612;DPRA=0;EPP=117.842;EPPR=77.3261;GTI=0;LEN=1;MEANALT=3;MQM=41.5279;MQMR=41.7993;NS=1;NUMALT=1;ODDS=1639.99;PAIRED=0.986885;PAIREDR=0.990132;PAO=0;PQA=0;PQR=0;PRO=0;QA=11119;QR=10502;RO=304;RPL=136;RPP=10.7635;RPPR=3.03887;RPR=169;RUN=1;SAF=141;SAP=6.77656;SAR=164;SF=25;SRF=138;SRP=8.61041;SRR=166;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-770.399,0,-727.863:612:304:305:11119:10502:304,305 . . . . . . . . . . . +chr10 69935235 . T C 4509.55 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=140;CIGAR=1X;DP=5335;DPB=143;DPRA=0;EPP=35.8306;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9857;MQMR=0;NS=1;NUMALT=1;ODDS=198.686;PAIRED=0.985714;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5273;QR=0;RO=0;RPL=87;RPP=20.9405;RPPR=0;RPR=53;RUN=1;SAF=40;SAP=58.8482;SAR=100;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-454.78,-42.1442,0:143:0:140:5273:0:0,140 1/1:-188.37,-17.7608,0:59:0:59:2188:0 1/1:-451.695,-42.1442,0:142:0:140:5235:0 1/1:-358.571,-33.1133,0:110:0:110:4207:0:0,110 1/1:-433.317,-40.037,0:133:0:133:5018:0 1/1:-425.951,-40.037,0:133:0:133:4957:0:0,133 1/1:-374.832,-32.5525,0:116:1:115:4371:35:1,115 1/1:-498.091,-45.4555,0:153:0:151:5779:0 1/1:-353.358,-32.8123,0:109:0:109:4090:0 1/1:-287.371,-27.0927,0:90:0:90:3339:0:0,90 1/1:-289.982,-26.7917,0:89:0:89:3356:0:0,89 1/1:-774.032,-73.1503,0:243:0:243:8968:0 1/1:-591.141,-54.7875,0:183:0:182:6852:0:0,182 1/1:-749.389,-69.2369,0:230:0:230:8695:0 1/1:-494.02,-45.1545,0:150:0:150:5728:0 1/1:-473.875,-45.1545,0:151:0:150:5516:0 1/1:-322.238,-29.1999,0:97:0:97:3735:0:0,97 1/1:-498.937,-46.0576,0:153:0:153:5800:0 1/1:-266.323,-25.5876,0:85:0:85:3077:0 1/1:-502.071,-45.5617,0:156:1:155:5836:14 1/1:-506.843,-46.0576,0:153:0:153:5875:0:0,153 1/1:-383.878,-35.5215,0:118:0:118:4454:0:0,118 1/1:-398.925,-36.7257,0:122:0:122:4618:0 1/1:-388.408,-35.2205,0:117:0:117:4521:0 1/1:-308.382,-28.2968,0:94:0:94:3568:0:0,94 1/1:-1026.8,-94.5234,0:314:0:314:11919:0:0,314 1/1:-756.227,-70.7421,0:238:0:235:8761:0 1/1:-812.445,-75.2575,0:250:0:250:9454:0:0,250 1/1:-337.139,-32.2102,0:107:0:107:3899:0 1/1:-675.471,-64.1194,0:213:0:213:7876:0 1/1:-395.97,-37.0267,0:123:0:123:4598:0 1/1:-505.367,-45.6628,0:157:1:156:5873:16 1/1:-360.676,-33.4143,0:111:0:111:4176:0 1/1:-357.035,-32.5112,0:108:0:108:4138:0 1/1:-424.244,-39.4349,0:131:0:131:4939:0 1/1:-363.288,-34.0164,0:113:0:113:4202:0 1/1:-454.151,-42.4452,0:141:0:141:5255:0 +chr10 69948844 . T C 10867.88 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=340;CIGAR=1X;DP=12782;DPB=340;DPRA=0;EPP=45.9544;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9353;MQMR=0;NS=1;NUMALT=1;ODDS=475.945;PAIRED=0.997059;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=12653;QR=0;RO=0;RPL=137;RPP=30.8307;RPPR=0;RPR=203;RUN=1;SAF=146;SAP=17.7252;SAR=194;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1094.36,-102.35,0:340:0:340:12653:0:0,340 1/1:-463.99,-43.3483,0:145:0:144:5366:0 1/1:-1238.81,-117.402,0:391:0:390:14315:0 1/1:-1016.39,-94.2224,0:313:0:313:11783:0:0,313 1/1:-1384.23,-129.744,0:431:0:431:16082:0 1/1:-1297.66,-121.917,0:405:0:405:15083:0:0,405 1/1:-938.68,-87.2987,0:290:0:290:10857:0:0,290 1/1:-1433.92,-135.162,0:451:0:449:16664:0 1/1:-864.208,-80.676,0:269:0:268:10013:0 1/1:-982.084,-92.1152,0:307:0:306:11394:0:0,306 1/1:-1148.24,-105.963,0:353:0:352:13301:0:0,352 1/1:-1390.46,-132.754,0:445:0:441:16065:0 1/1:-1556.72,-145.397,0:483:0:483:18040:0:0,483 1/1:-1306.3,-121.71,0:412:1:410:15137:29 1/1:-862.179,-81.2781,0:270:0:270:9970:0 1/1:-1248.66,-117.703,0:392:0:391:14468:0 1/1:-1152.6,-107.769,0:358:0:358:13438:0:0,358 1/1:-1452.75,-136.969,0:455:0:455:16955:0 1/1:-757.264,-71.0431,0:236:0:236:8757:0 1/1:-1083.73,-101.447,0:338:0:337:12539:0 1/1:-1404.7,-132.152,0:439:0:439:16317:0:0,439 1/1:-559.528,-54.4864,0:182:0:181:6456:0:0,181 1/1:-633.567,-60.8081,0:203:0:202:7354:0 1/1:-1275.79,-118.305,0:393:0:393:14788:0 1/1:-565.741,-52.3792,0:174:0:174:6546:0:0,174 1/1:-1667.99,-158.041,0:529:0:525:19328:0:0,525 1/1:-1315.33,-128.239,0:426:0:426:15205:0 1/1:-1617.82,-152.989,0:515:1:512:18730:16:1,512 1/1:-790.094,-77.0637,0:257:0:256:9109:0 1/1:-1649.57,-159.847,0:534:0:531:19082:0 1/1:-975.078,-92.1152,0:306:0:306:11312:0 1/1:-826.93,-77.9668,0:260:0:259:9542:0 1/1:-1030.38,-96.9317,0:322:0:322:11905:0 1/1:-989.254,-92.7172,0:308:0:308:11443:0 1/1:-971.151,-89.5634,0:300:1:299:11248:16 1/1:-598.015,-55.9916,0:187:0:186:6916:0 1/1:-1163.62,-107.277,0:363:1:362:13499:20 +chr10 69959242 . C A 8443.45 . AB=0.44686;ABP=13.1648;AC=30;AF=0.5;AN=46;AO=185;CIGAR=1X;DP=11217;DPB=414;DPRA=0;EPP=3.30374;EPPR=4.61283;GTI=0;LEN=1;MEANALT=1;MQM=40.2865;MQMR=41.8908;NS=1;NUMALT=1;ODDS=995.656;PAIRED=0.994595;PAIREDR=0.995633;PAO=0;PQA=0;PQR=0;PRO=0;QA=6695;QR=8322;RO=229;RPL=107;RPP=12.8817;RPPR=25.7776;RPR=78;RUN=1;SAF=87;SAP=4.43056;SAR=98;SF=3,4,5,6,9,10,11,12,13,15,16,17,18,19,23,24,25,26,29,30,32,34,35;SRF=101;SRP=9.92298;SRR=128;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-441.683,0,-596.522:414:229:185:6695:8322:229,185 0/1:-681.953,0,-793.974:586:306:279:10143:11200 1/1:-1970.53,-184.404,0:637:2:633:23497:77:2,633 1/1:-1200.04,-114.692,0:384:0:381:14185:0:0,381 . . 0/1:-560.775,0,-418.387:387:171:216:8015:6156:171,216 0/1:-571.541,0,-581.455:457:227:227:8435:8285:227,227 0/1:-650.347,0,-723.352:557:285:270:9591:10252 1/1:-1929.14,-180.899,0:624:2:621:22864:77:2,621 1/1:-1566.36,-150.097,0:513:3:508:18558:42 . 0/1:-646.018,0,-708.054:546:279:266:9760:10065 1/1:-1537.64,-144.901,0:486:1:485:18149:14:1,485 0/1:-738.598,0,-781.071:602:306:296:10996:11183 1/1:-1003.7,-96.0286,0:320:0:319:11845:0 0/1:-642.056,0,-696.346:529:272:257:9592:9880 . . . 0/1:-704.462,0,-825.359:597:316:281:10397:11611 0/1:-402.396,0,-257.941:263:107:154:5680:3883:107,154 0/1:-784.771,0,-735.17:610:298:312:11405:10573:298,312 0/1:-643.701,0,-723.802:562:290:272:9788:10263 . . 0/1:-778.699,0,-845.209:661:339:321:11557:12027 0/1:-531.871,0,-483.594:402:191:211:7720:6967 . 0/1:-477.484,0,-643.336:439:243:195:7157:8940 . 0/1:-537.274,0,-535.835:420:209:211:7801:7621 1/1:-691.502,-66.5276,0:221:0:221:8081:0 . +chr10 69959345 . GCTGGGAC GC 3901.75 . AB=0.473077;ABP=4.64726;AC=31;AF=0.5;AN=46;AO=123;CIGAR=1M6D1M;DP=6911;DPB=167.125;DPRA=0;EPP=52.6011;EPPR=37.3001;GTI=0;LEN=6;MEANALT=4;MQM=31.5691;MQMR=41.8582;NS=1;NUMALT=1;ODDS=462.871;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4077;QR=4881;RO=134;RPL=86;RPP=45.3981;RPPR=73.5994;RPR=37;RUN=1;SAF=57;SAP=4.44029;SAR=66;SF=3,4,5,6,9,10,11,12,13,15,16,17,18,19,23,24,25,26,29,30,32,34,35;SRF=62;SRP=4.6308;SRR=72;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYPN;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\x3d98.130942,98.994558;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-217.403,0,-347.143:260:134:123:4077:4881:134,123 0/1:-293.576,0,-374.742:324:144:178:5945:5298 1/1:-842.741,-106.565,0:355:0:354:12136:0:0,354 1/1:-550.733,-70.14,0:234:0:233:7777:0:0,233 . . 0/1:-237.572,0,-250.795:232:101:130:4360:3687:101,130 0/1:-241.912,0,-329.961:271:129:138:4607:4717:129,138 0/1:-280.034,0,-445.633:356:174:175:5393:6164 1/1:-920.514,-119.208,0:400:0:396:13370:0:0,396 1/1:-776.525,-106.565,0:335:0:332:10425:0 . 0/1:-301.977,0,-314.811:316:130:177:5907:4719 1/1:-744.32,-92.4162,0:309:0:307:10618:0:0,307 1/1:-834.187,-120.111,0:358:0:355:12030:0 1/1:-510.912,-68.6348,0:217:0:214:7149:0 0/1:-263.924,0,-356.84:306:144:154:5149:5192 . . . 0/1:-277.886,0,-442.519:334:169:163:5622:6209 0/1:-125.547,0,-236.065:170:90:76:2460:3293:90,76 0/1:-464.938,0,-516.882:457:211:240:7921:7482:211,240 0/1:-307.343,0,-473.245:406:194:196:5832:6817 . . 0/1:-322.625,0,-594.822:431:229:199:6301:8156 0/1:-178.054,0,-264.851:215:106:108:3499:3790 . 0/1:-180.906,0,-328.295:233:123:106:3496:4533 . 0/1:-191.903,0,-239.548:208:96:110:3713:3491 1/1:-429.59,-62.9153,0:184:0:183:6163:0 . +chr10 75849841 . G A 2393.02 . AB=0.442396;ABP=9.26454;AC=1;AF=0.5;AN=2;AO=96;CIGAR=1X;DP=217;DPB=217;DPRA=0;EPP=4.45795;EPPR=9.48883;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.686;NS=1;NUMALT=1;ODDS=551.013;PAIRED=1;PAIREDR=0.983471;PAO=0;PQA=0;PQR=0;PRO=0;QA=3643;QR=4468;RO=121;RPL=32;RPP=26.1727;RPPR=36.1926;RPR=64;RUN=1;SAF=54;SAP=6.26751;SAR=42;SF=8;SRF=68;SRP=7.04816;SRR=53;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=VCL;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=VCL:NM_003373:exon10:c.G1237A:p.A413T,VCL:NM_014000:exon10:c.G1237A:p.A413T;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146278697;CLNALLELEID=54741;CLNDN=Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.591;SIFT_converted_rankscore=0.122;SIFT_pred=T;Polyphen2_HDIV_score=0.001;Polyphen2_HDIV_rankscore=0.253;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.003;Polyphen2_HVAR_rankscore=0.318;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.457;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.01;MutationAssessor_score_rankscore=0.254;MutationAssessor_pred=L;FATHMM_score=1.11;FATHMM_converted_rankscore=0.389;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_converted_rankscore=0.107;PROVEAN_pred=N;VEST3_score=0.059;VEST3_rankscore=0.138;MetaSVM_score=-1.052;MetaSVM_rankscore=0.139;MetaSVM_pred=T;MetaLR_score=0.109;MetaLR_rankscore=0.395;MetaLR_pred=T;M-CAP_score=0.009;M-CAP_rankscore=0.234;M-CAP_pred=T;REVEL_score=0.048;REVEL_rankscore=0.137;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.336;CADD_raw_rankscore=0.342;CADD_phred=18.40;DANN_score=0.997;DANN_rankscore=0.779;fathmm-MKL_coding_score=0.912;fathmm-MKL_coding_rankscore=0.527;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.158;Eigen-PC-raw=-0.023;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.389;integrated_fitCons_score=0.706;integrated_fitCons_score_rankscore=0.609;integrated_confidence_value=0;GERP++_RS=3.94;GERP++_RS_rankscore=0.446;phyloP100way_vertebrate=2.101;phyloP100way_vertebrate_rankscore=0.412;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=8.370;SiPhy_29way_logOdds_rankscore=0.314;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=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0003;ExAC_nontcga_OTH=0.0014;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;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=0.0007;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\x3d99.492014;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-249.266,0,-320.204:217:121:96:3643:4468 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 75849921 . T C 2475.44 . AB=0.543956;ABP=6.06468;AC=1;AF=0.5;AN=2;AO=99;CIGAR=1X;DP=182;DPB=182;DPRA=0;EPP=3.03223;EPPR=3.03646;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=458.948;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3651;QR=3113;RO=83;RPL=78;RPP=74.2741;RPPR=76.5003;RPR=21;RUN=1;SAF=45;SAP=4.78696;SAR=54;SF=8;SRF=40;SRP=3.24576;SRR=43;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-262.044,0,-213.895:182:83:99:3651:3113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 75865065 . G A 7462.75 . AB=0.494624;ABP=3.1037;AC=44;AF=0.5;AN=60;AO=184;CIGAR=1X;DP=10571;DPB=372;DPRA=0;EPP=12.2627;EPPR=17.9796;GTI=0;LEN=1;MEANALT=1;MQM=41.9022;MQMR=41.9043;NS=1;NUMALT=1;ODDS=1071.15;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6863;QR=7079;RO=188;RPL=115;RPP=27.9822;RPPR=5.27418;RPR=69;RUN=1;SAF=59;SAP=54.4175;SAR=125;SF=0,1,2,4,5,6,7,8,10,11,12,13,15,17,18,19,20,21,22,23,25,26,27,28,29,31,32,33,35,36;SRF=69;SRP=31.8863;SRR=119;TYPE=snp;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\x3dMIMAT0000761|hsa-miR-324-5p|Experimental,MIMAT0004559|hsa-miR-181c-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.805936;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-480.941,0,-499.495:372:188:184:6863:7079:188,184 0/1:-168.112,0,-200.013:140:74:66:2438:2799 1/1:-1077.73,-102.651,0:341:0:341:12511:0 . 0/1:-420.648,0,-516.31:362:196:166:6132:7219 0/1:-606.064,0,-540.157:442:210:232:8556:7778:210,232 1/1:-924.331,-86.9977,0:289:0:289:10684:0:0,289 1/1:-1433.44,-134.532,0:453:1:451:16615:17 1/1:-969.066,-90.61,0:301:0:301:11219:0 . 1/1:-1130.36,-104.758,0:349:0:348:13080:0:0,348 0/1:-496.562,0,-537.191:412:210:202:7176:7616 1/1:-1543.74,-144.569,0:487:1:484:17856:16:1,484 0/1:-505.958,0,-547.751:409:209:199:7269:7766 . 1/1:-1222.41,-115.897,0:385:0:385:14157:0 . 0/1:-461.068,0,-395.81:328:153:175:6497:5705 0/1:-306.476,0,-322.725:246:124:122:4403:4582 1/1:-1191.99,-112.284,0:373:0:373:13809:0 0/1:-548.176,0,-511.712:408:197:210:7763:7341:197,210 0/1:-236.782,0,-270.131:202:108:94:3440:3810:108,94 0/1:-281.923,0,-343.251:246:132:114:4103:4809 1/1:-1088.13,-100.45,0:339:1:338:12612:16 . 0/1:-698.531,0,-717.757:545:272:271:9979:10181:272,271 1/1:-1223.03,-115.676,0:393:1:390:14217:27 0/1:-552.568,0,-642.258:464:246:217:7981:9043:246,217 1/1:-719.988,-68.0328,0:226:0:226:8316:0 1/1:-1711.97,-164.362,0:546:0:546:19805:0 . 0/1:-226.343,0,-334.54:217:125:91:3367:4600 0/1:-456.023,0,-467.861:359:180:178:6565:6632 1/1:-943.168,-87.2987,0:292:0:290:10909:0 . 1/1:-646.088,-59.5108,0:203:1:202:7484:16 0/1:-665.078,0,-489.98:442:195:247:9265:7194 +chr10 75871735 . C G 15516.57 . AB=0.534992;ABP=9.84892;AC=56;AF=0.5;AN=70;AO=344;CIGAR=1X;DP=23257;DPB=643;DPRA=0;EPP=17.5541;EPPR=43.8616;GTI=0;LEN=1;MEANALT=1;MQM=41.8895;MQMR=41.9331;NS=1;NUMALT=1;ODDS=1668.27;PAIRED=0.994186;PAIREDR=0.996656;PAO=0;PQA=0;PQR=0;PRO=0;QA=12430;QR=10796;RO=299;RPL=81;RPP=212.103;RPPR=74.1896;RPR=263;RUN=1;SAF=199;SAP=21.4173;SAR=145;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,17,18,19,20,21,22,23,24,25,26,27,28,29,31,32,33,34,35,36;SRF=176;SRP=23.4105;SRR=123;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-887.942,0,-746.101:643:299:344:12430:10796:299,344 1/1:-912.232,-86.6966,0:288:0:288:10541:0 1/1:-2178.83,-212.828,0:707:0:707:25070:0 0/1:-867.011,0,-863.296:680:341:339:12352:12278:341,339 1/1:-2572.55,-246.845,0:822:0:820:29649:0 0/1:-1105.82,0,-1200.65:910:467:440:15886:16950:467,440 1/1:-1628.98,-156.536,0:520:0:520:18734:0:0,520 1/1:-2772.73,-267.315,0:891:0:888:31900:0 1/1:-1748.03,-167.975,0:560:0:558:20124:0 0/1:-748.59,0,-756.23:599:302:296:10668:10755:302,296 1/1:-2144.19,-206.507,0:687:0:686:24690:0:0,686 0/1:-1011.19,0,-999.051:830:411:416:14478:14321 1/1:-2865.54,-276.647,0:919:0:919:32980:0:0,919 0/1:-928.735,0,-805.5:699:333:365:13094:11665 0/1:-688.25,0,-710.086:555:281:274:9810:10073 1/1:-2471.18,-241.255,0:806:1:804:28486:12 . 0/1:-924.341,0,-1171.63:826:451:375:13495:16327 0/1:-566.378,0,-593.448:464:236:227:8100:8422 1/1:-2141.22,-208.915,0:696:0:694:24707:0 0/1:-1219.4,0,-988.3:878:402:476:17102:14424:402,476 0/1:-441.248,0,-276.128:293:122:171:6083:4173:122,171 0/1:-447.75,0,-310.316:306:131:175:6197:4626 1/1:-2495.41,-239.559,0:802:1:799:28742:14 0/1:-378.179,0,-459.971:335:181:154:5558:6432:181,154 0/1:-1317.81,0,-1190.96:1018:492:526:18669:17213:492,526 1/1:-2582.36,-255.574,0:850:0:849:29735:0 1/1:-2470.33,-241.426,0:804:0:802:28489:0:0,802 1/1:-1350.81,-132.453,0:441:0:440:15542:0 1/1:-2864.94,-282.667,0:941:0:939:32923:0 . 1/1:-1188.12,-115.401,0:388:1:387:13647:14 1/1:-2234.9,-216.441,0:719:0:719:25668:0 1/1:-1784.84,-171.587,0:570:0:570:20523:0 1/1:-1863.79,-182.123,0:606:0:605:21503:0 1/1:-1100.9,-106.264,0:353:0:353:12651:0 1/1:-2649.72,-256.177,0:851:0:851:30543:0 +chr10 88439177 . G A 6258.59 . AB=0.493151;ABP=3.21852;AC=1;AF=0.5;AN=2;AO=252;CIGAR=1X;DP=511;DPB=511;DPRA=0;EPP=11.8341;EPPR=3.2199;GTI=0;LEN=1;MEANALT=1;MQM=41.5794;MQMR=41.9846;NS=1;NUMALT=1;ODDS=1441.09;PAIRED=0.988095;PAIREDR=0.996139;PAO=0;PQA=0;PQR=0;PRO=0;QA=9143;QR=9678;RO=259;RPL=106;RPP=16.7974;RPPR=60.7681;RPR=146;RUN=1;SAF=140;SAP=9.76599;SAR=112;SF=5;SRF=134;SRP=3.68941;SRR=125;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon2:c.G147A:p.V49V,LDB3:NM_001080115:exon2:c.G147A:p.V49V,LDB3:NM_001080116:exon2:c.G147A:p.V49V,LDB3:NM_001171611:exon2:c.G147A:p.V49V,LDB3:NM_007078:exon2:c.G147A:p.V49V,LDB3:NM_001171610:exon3:c.G147A:p.V49V;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45591834;CLNALLELEID=54690;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=0.0033;ExAC_nontcga_ALL=0.0026;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0023;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0021;AF=0.0035;AF_popmax=0.0054;AF_male=0.0035;AF_female=0.0035;AF_raw=0.0035;AF_afr=0.0013;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0054;AF_fin=0.0023;AF_asj=0.0034;AF_oth=0.0028;non_topmed_AF_popmax=0.0057;non_neuro_AF_popmax=0.0052;non_cancer_AF_popmax=.;controls_AF_popmax=0.0060;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=Name\x3dOREG1861631|N/A|SPI1|PAZAR,OREG1768642|N/A|MITF|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.816619;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-636.164,0,-683.309:511:259:252:9143:9678:259,252 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 88441198 . C T 1934.44 . AB=0.589552;ABP=12.3444;AC=1;AF=0.5;AN=2;AO=79;CIGAR=1X;DP=134;DPB=134;DPRA=0;EPP=4.35716;EPPR=3.04978;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=275.649;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2898;QR=2020;RO=55;RPL=11;RPP=92.3155;RPPR=76.0113;RPR=68;RUN=1;SAF=47;SAP=9.19487;SAR=32;SF=0;SRF=34;SRP=9.68264;SRR=21;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080115:exon4:c.C327T:p.P109P,LDB3:NM_001171611:exon4:c.C327T:p.P109P,LDB3:NM_007078:exon4:c.C327T:p.P109P,LDB3:NM_001171610:exon5:c.C327T:p.P109P;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs746481307;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.639e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.884e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3dOREG1176609|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.885753;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-211.208,0,-135.507:134:55:79:2898:2020:55,79 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 88441223 . G A 1225.53 . AB=0.621951;ABP=13.6028;AC=1;AF=0.5;AN=2;AO=51;CIGAR=1X;DP=82;DPB=82;DPRA=0;EPP=21.7871;EPPR=14.8483;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=143.604;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1856;QR=1124;RO=31;RPL=9;RPP=49.3776;RPPR=28.2974;RPR=42;RUN=1;SAF=24;SAP=3.3935;SAR=27;SF=6;SRF=13;SRP=4.76149;SRR=18;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-136.376,0,-72.9896:82:31:51:1856:1124:31,51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 88445385 . G C 7308.27 . AB=0.475083;ABP=4.63349;AC=54;AF=0.5;AN=68;AO=143;CIGAR=1X;DP=10626;DPB=301;DPRA=0;EPP=28.5365;EPPR=37.369;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9873;NS=1;NUMALT=1;ODDS=828.119;PAIRED=0.986014;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5392;QR=5859;RO=158;RPL=43;RPP=52.3468;RPPR=43.0863;RPR=100;RUN=1;SAF=86;SAP=15.781;SAR=57;SF=0,2,3,4,5,6,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=84;SRP=4.38465;SRR=74;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-375.56,0,-417.1:301:158:143:5392:5859:158,143 . 0/1:-361.471,0,-411.115:307:160:146:5237:5814 0/1:-341.933,0,-411.515:292:155:136:4981:5779:155,136 1/1:-1067.01,-100.845,0:335:0:335:12368:0 0/1:-540.417,0,-520.825:411:202:208:7719:7459:202,208 1/1:-743.121,-66.0575,0:233:2:231:8651:51:2,231 . . 0/1:-432.203,0,-314.473:293:127:166:6022:4693:127,166 1/1:-973.011,-90.9111,0:302:0:302:11260:0:0,302 1/1:-1277.7,-117.475,0:404:1:399:14835:33 1/1:-1416.64,-132.453,0:441:0:440:16442:0:0,440 1/1:-1105.22,-103.583,0:348:1:347:12806:12 1/1:-927.935,-87.5997,0:292:0:291:10725:0 0/1:-499.469,0,-454.66:373:176:195:7074:6571 1/1:-900.41,-83.6863,0:278:0:278:10421:0:0,278 0/1:-372.749,0,-512.925:343:193:149:5517:7116 1/1:-751.754,-67.1474,0:236:1:233:8730:37 1/1:-1112.57,-103.253,0:343:0:343:12889:0 1/1:-1295.17,-115.183,0:406:2:403:15071:78:2,403 0/1:-331.722,0,-82.0539:165:41:124:4387:1517:41,124 1/1:-516.261,-50.272,0:167:0:167:5944:0 1/1:-1192.43,-112.284,0:375:0:373:13811:0 0/1:-183.411,0,-234.889:161:89:72:2674:3274:89,72 0/1:-592.324,0,-643.65:483:250:232:8533:9120:250,232 0/1:-432.081,0,-561.601:403:222:179:6397:7861 1/1:-1344.14,-129.443,0:431:0:430:15639:0:0,430 0/1:-300.277,0,-327.609:250:128:122:4333:4661 1/1:-1450.75,-141.484,0:470:0:470:16823:0 1/1:-810.741,-77.3647,0:257:0:257:9375:0 0/1:-284.079,0,-256.712:213:101:111:4026:3701 1/1:-944.917,-90.008,0:299:0:299:10940:0 1/1:-822.256,-72.3497,0:262:3:258:9582:99 0/1:-402.831,0,-340.489:289:135:153:5668:4942 1/1:-511.974,-47.2617,0:158:0:157:5929:0 1/1:-973.298,-91.5131,0:305:0:304:11290:0 +chr10 88447027 . T C 4166.90 . AB=0.450413;ABP=13.3472;AC=1;AF=0.5;AN=2;AO=218;CIGAR=1X;DP=484;DPB=484;DPRA=0;EPP=15.9196;EPPR=6.43345;GTI=0;LEN=1;MEANALT=3;MQM=40.4312;MQMR=41.2402;NS=1;NUMALT=1;ODDS=959.465;PAIRED=0.954128;PAIREDR=0.969432;PAO=0;PQA=0;PQR=0;PRO=0;QA=6669;QR=7221;RO=229;RPL=163;RPP=119.194;RPPR=95.9474;RPR=55;RUN=1;SAF=102;SAP=4.96263;SAR=116;SF=19;SRF=107;SRP=5.14384;SRR=122;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon5:c.T546C:p.S182S,LDB3:NM_001080116:exon5:c.T546C:p.S182S,LDB3:NM_001171611:exon5:c.T891C:p.S297S,LDB3:NM_001171610:exon6:c.T891C:p.S297S;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71473272;CLNALLELEID=53049;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,_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=0.0036;ExAC_nontcga_ALL=0.0056;ExAC_nontcga_AFR=0.0018;ExAC_nontcga_AMR=0.0049;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0056;ExAC_nontcga_OTH=0.0102;ExAC_nontcga_SAS=0.0124;AF=0.0027;AF_popmax=0.0042;AF_male=0.0031;AF_female=0.0022;AF_raw=0.0027;AF_afr=0.0007;AF_sas=.;AF_amr=0.0035;AF_eas=0.0006;AF_nfe=0.0042;AF_fin=0;AF_asj=0.0207;AF_oth=0.0037;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0042;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;Kaviar_AF=0.0051228;Kaviar_AC=792;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.882956;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-437.548,0,-491.197:484:229:218:6669:7221 . . . . . . . . . . . . . . . . . +chr10 88466465 . C T 3040.03 . AB=0.537234;ABP=5.27418;AC=2;AF=0.5;AN=4;AO=101;CIGAR=1X;DP=415;DPB=188;DPRA=0;EPP=9.22372;EPPR=7.95924;GTI=0;LEN=1;MEANALT=2;MQM=41.9802;MQMR=42;NS=1;NUMALT=1;ODDS=489.951;PAIRED=1;PAIREDR=0.976744;PAO=0;PQA=0;PQR=0;PRO=0;QA=3841;QR=3191;RO=86;RPL=47;RPP=4.06379;RPPR=3.0103;RPR=54;RUN=1;SAF=55;SAP=4.75178;SAR=46;SF=6,15;SRF=45;SRP=3.41429;SRR=41;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-275.28,0,-220.009:188:86:101:3841:3191:86,101 . . . . . . . . 0/1:-348.329,0,-237.064:227:97:130:4821:3550 . . . . . . . . . . . . . . . . . . . . . +chr10 88485931 . C T 2514.67 . AB=0.486381;ABP=3.42432;AC=2;AF=0.5;AN=4;AO=125;CIGAR=1X;DP=431;DPB=257;DPRA=0;EPP=3.86152;EPPR=5.37918;GTI=0;LEN=1;MEANALT=1;MQM=41.952;MQMR=41.8409;NS=1;NUMALT=1;ODDS=704.595;PAIRED=0.992;PAIREDR=0.984848;PAO=0;PQA=0;PQR=0;PRO=0;QA=4522;QR=4754;RO=132;RPL=52;RPP=10.6713;RPPR=8.34028;RPR=73;RUN=1;SAF=70;SAP=6.91895;SAR=55;SF=29,30;SRF=77;SRP=10.9724;SRR=55;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LDB3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LDB3:NM_001080114:exon12:c.C1686T:p.C562C,LDB3:NM_007078:exon12:c.C2016T:p.C672C,LDB3:NM_001171610:exon13:c.C2031T:p.C677C;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45578640;CLNALLELEID=54704;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,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0020;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0025;AF_popmax=0.0045;AF_male=0.0025;AF_female=0.0026;AF_raw=0.0025;AF_afr=0.0008;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0003;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0037;non_neuro_AF_popmax=0.0048;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;Kaviar_AF=0.0025744;Kaviar_AC=398;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.743969;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-314.025,0,-335.295:257:132:125:4522:4754 0/1:-207.024,0,-240.548:174:93:79:3000:3373 . . . . . . +chr10 92675649 . GAAAACG GAAACG 1239.82 . AB=0.5;ABP=3.0103;AC=12;AF=0.5;AN=22;AO=36;CIGAR=1M1D5M;DP=942;DPB=66.8571;DPRA=0;EPP=3.9754;EPPR=10.5174;GTI=0;LEN=1;MEANALT=2;MQM=41.3611;MQMR=41.4571;NS=1;NUMALT=1;ODDS=184.826;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1247;QR=1294;RO=35;RPL=23;RPP=9.04217;RPPR=3.07234;RPR=13;RUN=1;SAF=15;SAP=5.18177;SAR=21;SF=0,3,7,18,20,23,24,26,27,31,35;SRF=12;SRP=10.5174;SRR=23;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 0/1:-86.8353,0,-90.0908:72:35:36:1247:1294:35,36 . . 0/1:-145.248,0,-90.2094:90:37:53:1987:1343:37,53 . . . 1/1:.,.,0:123:0:123:4437:0 . . . . . . . . . . 0/1:.,.,-75.2258:68:30:38:1363:1099 . 0/1:-148.866,0,-152.615:120:59:59:2122:2161:59,59 . . 0/1:.,.,-146.409:97:54:43:1611:2030 0/1:-41.3463,0,-66.9341:43:25:18:627:913:25,18 . 0/1:.,.,-158.795:114:63:49:1666:2253 0/1:-187.33,0,-87.1582:112:38:71:2530:1379:38,71 . . . 0/1:.,.,-46.1768:45:19:26:899:690 . . . 0/1:.,.,-90.6281:58:33:25:952:1244 . +chr10 92678738 . AAAATAAATAAATATATATATATATATATATATATAG AAAATATATATATATATATATATATATATATAG,AAAATATATATATATATATATATATATATAG,AAAATATATGTATATATAG,AAAATATATATATATATATATATATATATATATAG,AAAATATATATATATATATATATATATATATATATAG,AAAATAAATAAATATATATATATATATATATATATATAG 220.54 . AB=0.25,0.3125;ABP=11.6962,7.89611;AC=1,1,3,1,1,1;AF=0.5,0.5;AN=8;AO=4,5;CIGAR=6M1X3M1X26M,11M2I26M;DP=93;DPB=16.1622;DPRA=0,0;EPP=3.0103,3.44459;EPPR=5.18177;GTI=0;LEN=37,2;MEANALT=5,5;MQM=42,42;MQMR=42;NS=1;NUMALT=2;ODDS=14.2407;PAIRED=1,1;PAIREDR=1;PAO=0,0;PQA=0,0;PQR=0;PRO=0;QA=154,170;QR=37;RO=1;RPL=3,3;RPP=5.18177,3.44459;RPPR=5.18177;RPR=1,2;RUN=1,1;SAF=1,0;SAP=5.18177,13.8677;SAR=3,5;SF=0,9,12,27;SRF=0;SRP=5.18177;SRR=1;TYPE=complex,ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;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=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58762441;CLNALLELEID=54797;CLNDN=Total_anomalous_pulmonary_venous_return|Cardiomyopathy|not_specified;CLNDISDB=Gene:6893,Human_Phenotype_Ontology:HP:0005160,MedGen:C4551903,OMIM:106700|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=.;ExAC_n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GT:GL:DP:RO:AO:QA:QR:AD 5/6:-22.1421,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-10.3581,.,.,.,.,-12.0774,-9.16296,.,.,.,.,0,-10.5798:16:1:.,.,.,.,4,5:.,.,.,.,154,170:37:1,4,5 . . . . . . . . 3/3:-31.2303,.,.,.,.,.,-11.7879,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:28:0:.,.,21,.,.,.:.,.,391,.,.,.:0:0,21 . . 3/4:-40.3221,.,.,.,.,.,-17.7387,.,.,-8.10574,-26.1988,.,.,0,-20.7803,.,.,.,.,.,.,.,.,.,.,.,.,.:35:0:.,.,20,6,.,.:.,.,409,226,.,.:0:0,20,6 . . . . . . . . . . . . . . 1/2:-19.0492,-12.0653,-9.05498,-8.78733,0,-5.17497,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:14:0:4,6,.,.,.,.:113,157,.,.,.,.:0:0,4,6 . . . . . . . . . +chr10 92678740 . AATAAATAAATATATATATATATATATATATATAG AATATATGTATATATAG,AATATATATAG,AATATATATATATATAG,AATATATATATATATATATATATATATAG,AATATATATATATATATATATATATATATATAG,AATATATGTATATATAGCATGAGAGATATATATATAG,AATATATATATATATATATATATATATATATATAG,AATATATGTATATATAGCATGATATATATATATATAG 386.08 . 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AATAA TATGT,TATAT 293.11 . AB=0.692308;ABP=7.18621;AC=3,2;AF=0.5;AN=8;AO=9;CIGAR=1X2M2X;DP=99;DPB=13;DPRA=0;EPP=14.8328;EPPR=5.18177;GTI=0;LEN=5;MEANALT=1;MQM=20.7778;MQMR=37.5;NS=1;NUMALT=1;ODDS=4.29732;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=320;QR=135;RO=4;RPL=9;RPP=22.5536;RPPR=11.6962;RPR=0;RUN=1;SAF=8;SAP=14.8328;SAR=1;SF=1,7,17,28;SRF=1;SRP=5.18177;SRR=3;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;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=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;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=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-11.1447,0,-7.70784,.,.,.:13:4:9,.:320,.:135 . . . . . 2/2:-67.487,.,.,-7.22472,.,0:25:0:.,24:.,818:0 . . . . . . . . . 0/1:-39.7514,0,-30.2933,.,.,.:30:12:18,.:647,.:450 . . . . . . . . . . 0/1:-38.1915,0,-20.6811,.,.,.:31:9:22,.:736,.:343 . . . . . . . . +chr10 92678755 . ATATATAT AGCATGAGAG 106.85 . AB=0.296296;ABP=12.7417;AC=1;AF=0.5;AN=2;AO=8;CIGAR=1M1I1X2M1I1M1X1M1X;DP=27;DPB=31.5;DPRA=0;EPP=4.09604;EPPR=4.9405;GTI=0;LEN=10;MEANALT=2;MQM=30.75;MQMR=41.8889;NS=1;NUMALT=1;ODDS=24.603;PAIRED=1;PAIREDR=1;PAO=3;PQA=108;PQR=68;PRO=2;QA=276;QR=675;RO=18;RPL=8;RPP=20.3821;RPPR=26.6552;RPR=0;RUN=1;SAF=5;SAP=4.09604;SAR=3;SF=17;SRF=5;SRP=10.7311;SRR=13;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;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=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-18.0463,0,-54.9787:27:18:8:276:675 . . . . . . . . . . . . . . . . . . . +chr10 92678756 . T G 39.55 . AB=0.206897;ABP=24.6501;AC=1;AF=0.5;AN=2;AO=6;CIGAR=1X;DP=29;DPB=29;DPRA=0;EPP=4.45795;EPPR=3.63072;GTI=0;LEN=1;MEANALT=3;MQM=37.1667;MQMR=38.2143;NS=1;NUMALT=1;ODDS=9.10722;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=190;QR=534;RO=14;RPL=6;RPP=16.0391;RPPR=12.937;RPR=0;RUN=1;SAF=2;SAP=4.45795;SAR=4;SF=28;SRF=5;SRP=5.49198;SRR=9;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANKRD1;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=Name\x3dENSR00000411683|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-10.4538,0,-36.5511:29:14:6:190:534 . . . . . . . . +chr10 92678765 . A G 391.43 . AB=0.612903;ABP=6.44263;AC=27;AF=0.5;AN=42;AO=19;CIGAR=1X;DP=851;DPB=31;DPRA=0;EPP=12.2676;EPPR=4.78696;GTI=0;LEN=1;MEANALT=2;MQM=21.2105;MQMR=41.8182;NS=1;NUMALT=1;ODDS=41.0745;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=686;QR=399;RO=11;RPL=10;RPP=3.12459;RPPR=7.94546;RPR=9;RUN=1;SAF=8;SAP=4.03889;SAR=11;SF=2,4,5,8,10,11,13,15,16,17,19,21,22,24,25,28,30,32,33,34,36;SRF=6;SRP=3.20771;SRR=5;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-24.3811,0,-25.7171:31:11:19:686:399 . 0/1:-21.1948,0,-54.4773:39:21:18:693:787 1/1:-72.4312,-11.4391,0:38:0:38:1390:0:0,38 . . 0/1:-18.7163,0,-26.2897:23:10:13:485:380 . 0/1:-24.9175,0,-41.3133:35:16:19:717:601:16,19 1/1:-151.345,-22.3481,0:82:1:81:2988:32 . 0/1:-69.1303,0,-57.6185:74:27:47:1761:919 . 0/1:-22.0752,0,-24.5121:28:12:16:597:402 1/1:-77.0624,-13.5464,0:46:0:45:1661:0:0,45 0/1:-23.0094,0,-54.0327:35:20:15:553:740 . 0/1:-32.5811,0,-40.758:45:17:27:1006:618 . 0/1:-33.4408,0,-32.894:34:15:19:725:490:15,19 0/1:-30.606,0,-37.7422:37:16:21:732:558 . 1/1:-27.5631,-0.93476,0:15:1:14:525:37:1,14 0/1:-71.1061,0,-35.52:66:18:48:1792:630:18,48 . . 0/1:-6.16366,0,-32.5576:19:12:7:216:450 . 0/1:-26.0469,0,-44.6519:42:19:23:854:654 . 0/1:-29.1061,0,-34.147:35:14:21:804:509 0/1:-24.7528,0,-48.0711:36:19:17:645:700 1/1:-74.0117,-11.4402,0:39:1:38:1406:39 . 1/1:-95.1551,-13.4504,0:52:1:51:1838:29 +chr10 101473218 . A G 6091.83 . AB=0;ABP=0;AC=68;AF=1;AN=72;AO=208;CIGAR=1X;DP=7368;DPB=208;DPRA=0;EPP=4.51363;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.6635;MQMR=0;NS=1;NUMALT=1;ODDS=292.954;PAIRED=0.995192;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7795;QR=0;RO=0;RPL=98;RPP=4.51363;RPPR=0;RPR=110;RUN=1;SAF=94;SAP=7.18621;SAR=114;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-670.094,-62.6142,0:208:0:208:7795:0:0,208 1/1:-265.82,-25.5876,0:85:0:85:3078:0 1/1:-593.543,-56.5936,0:188:0:188:6858:0 1/1:-582.629,-53.5833,0:178:0:178:6759:0:0,178 1/1:-747.546,-68.991,0:234:1:233:8746:15 1/1:-702.517,-65.6245,0:218:0:218:8141:0:0,218 1/1:-505.532,-47.2617,0:157:0:157:5845:0:0,157 1/1:-792.567,-73.7245,0:251:1:249:9193:17 1/1:-550.096,-51.7772,0:173:0:172:6398:0 1/1:-553.901,-51.4761,0:171:0:171:6404:0:0,171 1/1:-828.163,-77.3647,0:258:0:257:9600:0:0,257 1/1:-904.761,-86.6966,0:289:0:288:10495:0 1/1:-914.059,-84.5894,0:282:0:281:10580:0:0,281 1/1:-897.421,-84.8905,0:282:0:282:10405:0 0/1:-178.89,0,-220.936:153:81:71:2637:3090 1/1:-666.904,-63.2163,0:210:0:210:7729:0 1/1:-768.618,-71.6451,0:238:0:238:8903:0:0,238 1/1:-722.702,-68.9359,0:229:0:229:8380:0 0/1:-191.085,0,-144.942:129:56:73:2650:2124 1/1:-555.521,-51.7772,0:172:0:172:6481:0 1/1:-718.736,-68.0328,0:226:0:226:8323:0:0,226 1/1:-430.046,-39.5425,0:137:1:136:4982:17:1,136 1/1:-494.412,-46.3586,0:154:0:154:5711:0 1/1:-703.986,-65.9256,0:219:0:219:8150:0 1/1:-343.304,-31.9092,0:106:0:106:3968:0:0,106 1/1:-1117.69,-103.662,0:350:1:349:12982:17:1,349 0/1:-365.54,0,-342.161:285:136:148:5253:4934 1/1:-819.198,-78.2678,0:260:0:260:9496:0:0,260 1/1:-539.167,-51.1751,0:170:0:170:6237:0 1/1:-987.425,-92.8411,0:314:1:313:11455:18 1/1:-560.87,-52.3792,0:174:0:174:6485:0 1/1:-525.266,-49.67,0:165:0:165:6076:0 0/1:-230.629,0,-249.043:181:92:89:3304:3515 . 1/1:-605.573,-55.9916,0:186:0:186:7009:0 1/1:-385.023,-35.8226,0:119:0:119:4449:0 1/1:-705.665,-65.3235,0:217:0:217:8162:0 +chr10 101474499 . T C 2019.96 . AB=0.330769;ABP=35.3485;AC=13;AF=0.5;AN=20;AO=43;CIGAR=1X;DP=1183;DPB=130;DPRA=0;EPP=4.27278;EPPR=16.2139;GTI=0;LEN=1;MEANALT=1;MQM=41.9535;MQMR=41.977;NS=1;NUMALT=1;ODDS=178.796;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1558;QR=3240;RO=87;RPL=41;RPP=79.8198;RPPR=62.9379;RPR=2;RUN=1;SAF=17;SAP=7.10075;SAR=26;SF=0,2,4,9,11,13,18,28,35,36;SRF=36;SRP=8.62618;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-96.4275,0,-241.542:130:87:43:1558:3240:87,43 . 0/1:-220.441,0,-117.98:137:51:84:3024:1836 . 0/1:-200.927,0,-173.198:143:66:76:2818:2503 . . . . 1/1:-360.217,-34.0164,0:114:0:113:4164:0:0,113 . 0/1:-199.858,0,-131.948:133:56:77:2765:1980 . 1/1:-341.978,-32.8123,0:112:0:109:3956:0 . . . . 0/1:-181.237,0,-64.1461:96:29:67:2426:1071 . . . . . . . . . 1/1:-284.944,-27.3937,0:91:0:91:3294:0 . . . . . . 0/1:-111.691,0,-113.207:88:43:45:1592:1619 0/1:-193.477,0,-154.215:139:62:77:2738:2264 +chr10 112404302 . G A 386.13 . AB=0.363636;ABP=10.1169;AC=10;AF=0.5;AN=18;AO=16;CIGAR=1X;DP=375;DPB=44;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=55.7343;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=535;QR=997;RO=28;RPL=16;RPP=37.7539;RPPR=63.8115;RPR=0;RUN=1;SAF=8;SAP=3.0103;SAR=8;SF=4,8,14,16,23,25,26,33,34;SRF=14;SRP=3.0103;SRR=14;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-34.0609,0,-74.0315:44:28:16:535:997 . . . 0/1:-50.4832,0,-63.5026:47:25:22:737:887 . . . . . 0/1:-15.144,0,-27.0786:16:10:6:226:362 . 0/1:-73.2719,0,-38.092:44:17:27:989:583:17,27 . . . . . . 0/1:-46.1061,0,-124.385:72:49:22:769:1685 . 0/1:-71.3376,0,-92.4792:66:36:30:1039:1282:36,30 0/1:-46.0576,0,-22.4335:29:11:18:624:353 . . . . . . 1/1:-83.2345,-6.22028,0:31:1:29:1006:30 0/1:-17.5044,0,-46.213:26:18:8:286:615 . . +chr10 112404420 . G A 13.87 . AB=0.333333;ABP=4.45795;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=6;DPB=6;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.15171;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=77;QR=131;RO=4;RPL=2;RPP=7.35324;RPPR=3.0103;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=31;SRF=3;SRP=5.18177;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=RBM20;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=Name\x3dENSR00000033358|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.080992;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.20298,0,-9.90626:6:4:2:77:131 . . . . . +chr10 112541062 . G A 2316.03 . AB=0.377778;ABP=38.0434;AC=1;AF=0.5;AN=2;AO=102;CIGAR=1X;DP=270;DPB=270;DPRA=0;EPP=30.6008;EPPR=37.9607;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=533.285;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3763;QR=6165;RO=168;RPL=55;RPP=4.37279;RPPR=4.87156;RPR=47;RUN=1;SAF=50;SAP=3.09546;SAR=52;SF=18;SRF=76;SRP=6.31921;SRR=92;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-244.687,0,-452.638:270:168:102:3763:6165 . . . . . . . . . . . . . . . . . . +chr10 112543217 . G A 6928.95 . AB=0.53125;ABP=5.72464;AC=52;AF=0.5;AN=70;AO=170;CIGAR=1X;DP=11051;DPB=320;DPRA=0;EPP=6.28028;EPPR=19.7451;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.76;NS=1;NUMALT=1;ODDS=805.92;PAIRED=0.994118;PAIREDR=0.986667;PAO=0;PQA=0;PQR=0;PRO=0;QA=6445;QR=5496;RO=150;RPL=132;RPP=115.876;RPPR=130.925;RPR=38;RUN=1;SAF=61;SAP=32.4401;SAR=109;SF=0,1,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,32,33,34,35,36;SRF=44;SRP=58.6579;SRR=106;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-460.544,0,-378.25:320:150:170:6445:5496:150,170 0/1:-208.649,0,-197.381:153:76:77:2947:2807 . 1/1:-978.569,-91.2121,0:303:0:303:11329:0:0,303 0/1:-409.547,0,-533.785:364:202:162:5996:7415 0/1:-562.383,0,-555.88:430:216:214:8001:7899:216,214 0/1:-335.169,0,-360.574:265:137:128:4796:5075:137,128 1/1:-1302.05,-121.616,0:404:0:404:15116:0 1/1:-836.223,-78.2678,0:260:0:260:9674:0 0/1:-356.792,0,-418.07:295:158:137:5146:5842:158,137 1/1:-920.555,-85.4925,0:285:0:284:10661:0:0,284 1/1:-1255.23,-118.305,0:394:0:393:14522:0 0/1:-614.817,0,-613.903:468:234:233:8739:8711:234,233 1/1:-1128.81,-103.474,0:356:1:354:13085:38 1/1:-805.501,-74.3544,0:247:0:247:9320:0 1/1:-1137.27,-105.963,0:352:0:352:13160:0 0/1:-424.189,0,-457.253:334:172:162:6073:6440:172,162 1/1:-1274.07,-115.553,0:396:1:395:14813:38 0/1:-301.881,0,-266.89:216:103:113:4261:3825 1/1:-1097.68,-96.6071,0:344:2:341:12781:75 0/1:-660.4,0,-506.235:448:200:247:9188:7393:200,247 0/1:-313.638,0,-55.6526:142:31:111:4112:1130:31,111 1/1:-455.122,-43.0473,0:143:0:143:5252:0 1/1:-1211.44,-111.983,0:372:0:372:14026:0 0/1:-264.02,0,-195.216:175:77:98:3656:2858:77,98 0/1:-651.581,0,-593.052:476:229:246:9190:8489:229,246 0/1:-572.12,0,-507.655:425:201:224:8165:7337 1/1:-1296.62,-122.218,0:406:0:406:15036:0:0,406 1/1:-778.293,-73.1503,0:244:0:243:9019:0 1/1:-1523.56,-143.591,0:477:0:477:17694:0 1/1:-778.27,-72.2472,0:240:0:240:8994:0 . 0/1:-444.536,0,-383.126:317:149:167:6238:5512 0/1:-408.682,0,-306.127:272:120:152:5666:4474 0/1:-334.532,0,-373.966:271:142:129:4834:5246 0/1:-190.748,0,-187.358:144:72:72:2703:2660 1/1:-994.915,-94.2224,0:313:0:313:11515:0 +chr10 112544063 . A C 2722.58 . AB=0.468254;ABP=4.11327;AC=46;AF=0.5;AN=70;AO=59;CIGAR=1X;DP=4858;DPB=126;DPRA=0;EPP=13.6468;EPPR=18.9344;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=320.37;PAIRED=1;PAIREDR=0.969697;PAO=0;PQA=0;PQR=0;PRO=0;QA=2192;QR=2472;RO=66;RPL=11;RPP=53.3958;RPPR=50.5195;RPR=48;RUN=1;SAF=32;SAP=3.93042;SAR=27;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=36;SRP=4.19474;SRR=30;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-151.802,0,-175.884:126:66:59:2192:2472:66,59 0/1:-63.5207,0,-57.4015:45:22:23:891:817 0/1:-230.424,0,-153.669:147:61:86:3172:2302 . 0/1:-217.435,0,-201.935:158:77:81:3068:2886 0/1:-248.497,0,-211.243:171:79:92:3469:3045:79,92 0/1:-140.592,0,-120.21:99:47:52:1971:1743:47,52 1/1:-504.575,-46.3586,0:154:0:154:5850:0 1/1:-311.634,-28.5979,0:95:0:95:3611:0 1/1:-409.047,-36.6319,0:127:1:126:4765:16:1,126 0/1:-143.668,0,-201.169:132:75:57:2121:2797:75,57 1/1:-678.128,-64.1194,0:213:0:213:7842:0 0/1:-306.814,0,-196.475:195:79:115:4240:2946:79,115 0/1:-254.044,0,-222.761:181:85:96:3567:3223 1/1:-415.428,-38.5318,0:128:0:128:4805:0 1/1:-469.278,-43.9504,0:146:0:146:5438:0 0/1:-196.566,0,-186.666:145:70:75:2774:2666:70,75 0/1:-231.457,0,-152.09:143:59:84:3193:2274 0/1:-119.08,0,-123.144:91:46:44:1694:1737 1/1:-518.156,-47.5627,0:158:0:158:6002:0 0/1:-288.023,0,-169.176:175:69:105:3973:2579:69,105 0/1:-202.208,0,-19.3009:84:14:70:2631:511:14,70 1/1:-320.974,-29.802,0:99:0:99:3714:0 . 0/1:-87.0661,0,-99.6151:70:37:33:1250:1394:37,33 1/1:-839.121,-78.2678,0:260:0:260:9737:0:0,260 0/1:-246.863,0,-178.544:165:70:94:3417:2633 0/1:-235.299,0,-263.961:194:103:91:3411:3751:103,91 0/1:-143.27,0,-181.459:122:67:55:2080:2530 1/1:-728.013,-67.9469,0:231:1:229:8470:15 0/1:-137.157,0,-121.3:99:47:52:1941:1757 0/1:-160.329,0,-140.479:117:56:61:2253:2026 0/1:-161.108,0,-190.004:131:70:61:2321:2673 0/1:-146.157,0,-132.29:106:51:55:2057:1900 0/1:-168.292,0,-165.027:123:61:62:2376:2338 0/1:-60.4642,0,-121.762:70:45:25:940:1668 1/1:-515.095,-47.5627,0:158:0:158:5965:0 +chr10 112544655 . C T 2274.80 . AB=0.483871;ABP=3.29049;AC=7;AF=0.5;AN=12;AO=60;CIGAR=1X;DP=933;DPB=124;DPRA=0;EPP=40.0701;EPPR=37.7539;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=339.221;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2268;QR=2393;RO=64;RPL=21;RPP=14.7363;RPPR=6.40323;RPR=39;RUN=1;SAF=31;SAP=3.15506;SAR=29;SF=3,10,13,17,23,28;SRF=29;SRP=4.23175;SRR=35;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-158.481,0,-170.272:124:64:60:2268:2393:64,60 . . . . . . 0/1:-173.265,0,-184.871:137:69:68:2573:2609:69,68 . . 0/1:-244.969,0,-317.613:217:119:98:3592:4440 . . . 0/1:-197.737,0,-223.837:161:86:75:2863:3166 . . . . . 1/1:-462.891,-40.6637,0:148:1:145:5426:38 . . . . 0/1:-196.385,0,-179.518:146:71:75:2774:2568 . . . . . . . . +chr10 112570130 . G C 3514.54 . AB=0.429245;ABP=12.2288;AC=2;AF=0.5;AN=4;AO=91;CIGAR=1X;DP=549;DPB=212;DPRA=0;EPP=4.94315;EPPR=3.02825;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=511.098;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3424;QR=4579;RO=121;RPL=28;RPP=32.2417;RPPR=36.1926;RPR=63;RUN=1;SAF=44;SAP=3.22506;SAR=47;SF=0,11;SRF=65;SRP=4.46393;SRR=56;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-232.564,0,-331.649:212:121:91:3424:4579:121,91 . . . . . . . . . . 0/1:-497.391,0,-348.985:337:145:190:6931:5200 . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 112570243 . T C 3693.13 . AB=0;ABP=0;AC=32;AF=1;AN=54;AO=108;CIGAR=1X;DP=6457;DPB=109;DPRA=0;EPP=21.1059;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.8148;MQMR=42;NS=1;NUMALT=1;ODDS=148.729;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3933;QR=19;RO=1;RPL=73;RPP=32.0437;RPPR=5.18177;RPR=35;RUN=1;SAF=52;SAP=3.332;SAR=56;SF=1,2,3,4,6,7,8,9,10,14,15,16,19,20,21,22,25,26,28,29,30,31,32,33,34,35,36;SRF=0;SRP=5.18177;SRR=1;TYPE=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:GL:DP:RO:AO:QA:QR:AD . 1/1:-339.303,-30.9144,0:109:1:108:3933:19 0/1:-390.134,0,-281.217:266:113:152:5430:4171 0/1:-331.16,0,-347.591:259:132:127:4721:4920:132,127 1/1:-1126.58,-107.167,0:357:0:356:13024:0 . 0/1:-221.934,0,-273.522:194:104:90:3222:3829:104,90 0/1:-394.442,0,-438.991:327:166:159:5674:6257 0/1:-237.459,0,-265.81:194:100:94:3411:3777 0/1:-259.045,0,-296.277:221:115:105:3741:4199:115,105 0/1:-354.305,0,-289.018:253:114:138:4974:4219:114,138 . . . 0/1:-151.803,0,-258.045:160:98:62:2306:3535 0/1:-250.076,0,-367.095:245:140:105:3742:5106 0/1:-318.615,0,-378.772:269:143:126:4628:5316:143,126 . . 0/1:-314.424,0,-423.871:287:159:127:4617:5913 1/1:-1068.08,-102.651,0:345:0:341:12362:0:0,341 0/1:-250.826,0,-44.013:117:24:92:3288:912:24,92 1/1:-351.149,-31.8374,0:114:1:112:4066:38 . . 0/1:-454.299,0,-589.458:418:228:188:6707:8243:228,188 1/1:-963.299,-96.9317,0:325:0:322:11117:0 . 0/1:-210.914,0,-249.926:184:100:84:3061:3532 0/1:-463.785,0,-443.287:371:179:190:6643:6408 0/1:-258.045,0,-231.534:187:89:98:3643:3353 0/1:-204.41,0,-179.275:155:74:81:2884:2653 0/1:-322.072,0,-290.764:238:112:124:4528:4191 0/1:-256.382,0,-338.58:235:128:107:3789:4726 0/1:-280.052,0,-266.93:215:108:107:3976:3885 0/1:-212.643,0,-156.044:139:61:78:2949:2281 0/1:-338.253,0,-356.031:273:139:132:4839:5056 +chr10 112572458 . G C 12987.51 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=443;CIGAR=1X;DP=15370;DPB=443;DPRA=0;EPP=3.40734;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8284;MQMR=0;NS=1;NUMALT=1;ODDS=618.734;PAIRED=0.995485;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=16180;QR=0;RO=0;RPL=213;RPP=4.4269;RPPR=0;RPR=230;RUN=1;SAF=203;SAP=9.72079;SAR=240;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1400.98,-133.356,0:443:0:443:16180:0:0,443 1/1:-572.441,-54.4864,0:181:0:181:6599:0 1/1:-1260.15,-121.315,0:404:0:403:14545:0 1/1:-1325.75,-125.831,0:419:0:418:15310:0:0,418 1/1:-1447.33,-136.668,0:455:0:454:16744:0 1/1:-1712.04,-162.556,0:544:0:540:19773:0:0,540 1/1:-1179.34,-111.682,0:371:0:371:13619:0:0,371 1/1:-1896.29,-181.22,0:602:0:602:21919:0 1/1:-1083.96,-102.651,0:341:0:341:12535:0 1/1:-1208.74,-116.499,0:387:0:387:13976:0:0,387 1/1:-1444.32,-137.872,0:459:0:458:16711:0:0,458 1/1:-1522.24,-149.01,0:497:0:495:17556:0 1/1:-1856.46,-176.705,0:588:0:587:21472:0:0,587 1/1:-1559.56,-151.117,0:503:0:502:17984:0 1/1:-1054.8,-100.845,0:336:0:335:12193:0 1/1:-1330.82,-127.336,0:424:0:423:15368:0 1/1:-1405.54,-131.851,0:439:0:438:16217:0:0,438 1/1:-1526.59,-144.494,0:480:0:480:17603:0 1/1:-883.024,-84.2884,0:282:0:280:10177:0 1/1:-1428.2,-136.668,0:454:0:454:16467:0 1/1:-1571.94,-149.01,0:495:0:495:18139:0:0,495 1/1:-779.715,-75.5585,0:251:0:251:9005:0:0,251 1/1:-738.344,-71.6451,0:238:0:238:8506:0 1/1:-1499.8,-141.183,0:469:0:469:17335:0 1/1:-822.302,-78.2678,0:260:0:260:9468:0:0,260 1/1:-2039.8,-196.874,0:654:0:654:23538:0:0,654 1/1:-1424.3,-139.979,0:466:0:465:16440:0 1/1:-1501.9,-143.118,0:481:1:479:17342:16:1,479 1/1:-963.568,-94.4296,0:319:1:318:11102:16 1/1:-1694.68,-165.247,0:559:2:556:19547:31 1/1:-1185.19,-112.585,0:375:0:374:13680:0 1/1:-910.496,-86.3956,0:287:0:287:10499:0 1/1:-1440.13,-137.27,0:457:0:456:16602:0 1/1:-1088.68,-103.554,0:346:0:344:12567:0 1/1:-1159.36,-110.177,0:366:0:366:13367:0 1/1:-815.448,-77.0637,0:258:0:256:9394:0 1/1:-1515.19,-144.193,0:480:0:479:17474:0 +chr10 112579854 . A G 2950.14 . AB=0.519824;ABP=3.78514;AC=1;AF=0.5;AN=2;AO=118;CIGAR=1X;DP=227;DPB=227;DPRA=0;EPP=4.18805;EPPR=3.03022;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9633;NS=1;NUMALT=1;ODDS=632.207;PAIRED=0.983051;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4273;QR=4073;RO=109;RPL=52;RPP=6.61715;RPPR=22.1551;RPR=66;RUN=1;SAF=67;SAP=7.72129;SAR=51;SF=17;SRF=69;SRP=19.7645;SRR=40;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RBM20;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RBM20:NM_001134363:exon10:c.A2575G:p.M859V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.24;SIFT_converted_rankscore=0.177;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=N;MutationAssessor_score=0.29;MutationAssessor_score_rankscore=0.101;MutationAssessor_pred=N;FATHMM_score=-0.86;FATHMM_converted_rankscore=0.745;FATHMM_pred=T;PROVEAN_score=-0.5;PROVEAN_converted_rankscore=0.158;PROVEAN_pred=N;VEST3_score=0.098;VEST3_rankscore=0.100;MetaSVM_score=-0.953;MetaSVM_rankscore=0.405;MetaSVM_pred=T;MetaLR_score=0.193;MetaLR_rankscore=0.546;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.272;M-CAP_pred=T;REVEL_score=0.204;REVEL_rankscore=0.496;MutPred_score=0.135;MutPred_rankscore=0.039;CADD_raw=-2.871;CADD_raw_rankscore=0.002;CADD_phred=0.001;DANN_score=0.544;DANN_rankscore=0.050;fathmm-MKL_coding_score=0.058;fathmm-MKL_coding_rankscore=0.116;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.787;Eigen-PC-raw=-1.876;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=-10.8;GERP++_RS_rankscore=0.002;phyloP100way_vertebrate=-0.505;phyloP100way_vertebrate_rankscore=0.064;phyloP20way_mammalian=-4.365;phyloP20way_mammalian_rankscore=0.000;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.062;phastCons20way_mammalian_rankscore=0.172;SiPhy_29way_logOdds=0.755;SiPhy_29way_logOdds_rankscore=0.009;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.817586;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-302.717,0,-284.876:227:109:118:4273:4073 . . . . . . . . . . . . . . . . . . . +chr10 112590810 . G C 8468.76 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=263;CIGAR=1X;DP=9984;DPB=263;DPRA=0;EPP=6.65144;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8631;MQMR=0;NS=1;NUMALT=1;ODDS=369.201;PAIRED=0.992395;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9979;QR=0;RO=0;RPL=65;RPP=149.06;RPPR=0;RPR=198;RUN=1;SAF=136;SAP=3.67908;SAR=127;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-859.248,-79.1709,0:263:0:263:9979:0:0,263 1/1:-403.978,-37.0267,0:123:0:123:4694:0 1/1:-1082.72,-102.638,0:344:1:342:12610:16 1/1:-860.428,-79.773,0:265:0:265:10000:0:0,265 1/1:-951.689,-88.8039,0:296:0:295:11085:0 1/1:-1023.86,-96.6306,0:323:0:321:11918:0:0,321 1/1:-675.658,-63.2163,0:211:0:210:7849:0:0,210 1/1:-1121.39,-105.963,0:352:0:352:13046:0 1/1:-797.462,-74.3544,0:247:0:247:9239:0 1/1:-790.472,-73.7524,0:245:0:245:9156:0:0,245 1/1:-888.244,-83.0843,0:276:0:276:10330:0:0,276 1/1:-1057.69,-100.544,0:334:0:334:12236:0 1/1:-1295.21,-120.079,0:404:1:403:15116:16:1,403 1/1:-947.039,-89.4059,0:297:0:297:10957:0 1/1:-760.085,-71.9462,0:239:0:239:8871:0 1/1:-921.57,-88.2018,0:293:0:293:10714:0 1/1:-781.564,-72.5482,0:241:0:241:9132:0:0,241 1/1:-1084.43,-101.447,0:337:0:337:12596:0 1/1:-654.67,-60.206,0:202:0:200:7586:0 1/1:-937.394,-88.2018,0:293:0:293:10867:0 1/1:-1123.69,-104.758,0:348:0:348:13047:0:0,348 1/1:-494.445,-46.6597,0:155:0:155:5705:0:0,155 1/1:-475.631,-45.7566,0:152:0:152:5514:0 1/1:-1020.16,-95.1255,0:316:0:316:11903:0 1/1:-460.413,-43.0473,0:145:0:143:5326:0:0,143 1/1:-1208.36,-112.585,0:374:0:374:13985:0:0,374 1/1:-1032.04,-99.0389,0:330:0:329:11962:0 1/1:-1245.01,-118.004,0:392:0:392:14456:0:0,392 1/1:-547.845,-53.2823,0:177:0:177:6355:0 1/1:-1168.05,-112.585,0:376:0:374:13595:0 1/1:-802.309,-75.2575,0:250:0:250:9284:0 1/1:-647.93,-60.206,0:201:0:200:7503:0 1/1:-841.437,-79.4719,0:267:0:264:9767:0 1/1:-831.879,-77.3707,0:262:1:261:9683:15 1/1:-653.479,-59.905,0:199:0:199:7571:0 1/1:-565.619,-52.6803,0:175:0:175:6562:0 1/1:-899.652,-84.2884,0:280:0:280:10477:0 +chr10 112595719 . G C 2093.60 . AB=0.5;ABP=3.0103;AC=66;AF=0.5;AN=74;AO=33;CIGAR=1X;DP=2907;DPB=66;DPRA=0;EPP=6.23461;EPPR=6.23461;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=173.651;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1210;QR=1238;RO=33;RPL=5;RPP=37.8197;RPPR=14.1309;RPR=28;RUN=1;SAF=19;SAP=4.65535;SAR=14;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=18;SRP=3.60252;SRR=15;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-85.1801,0,-87.7513:66:33:33:1210:1238:33,33 1/1:-91.5985,-8.42884,0:28:0:28:1059:0 1/1:-227.622,-21.6742,0:72:0:72:2624:0 1/1:-251.352,-23.1793,0:77:0:77:2913:0:0,77 0/1:-149.184,0,-151.984:113:57:56:2119:2147 0/1:-113.14,0,-163.251:106:61:45:1676:2280:61,45 1/1:-250.45,-23.4803,0:78:0:78:2911:0:0,78 1/1:-303.309,-28.2968,0:94:0:94:3533:0 1/1:-264.439,-24.6845,0:82:0:82:3060:0 1/1:-234.213,-21.3731,0:71:0:71:2709:0:0,71 1/1:-243.903,-23.4803,0:78:0:78:2850:0:0,78 1/1:-261.746,-24.3834,0:82:0:81:3020:0 1/1:-448.202,-42.1442,0:140:0:140:5210:0:0,140 1/1:-318.888,-29.5009,0:98:0:98:3688:0 1/1:-178.874,-16.8577,0:56:0:56:2095:0 0/1:-98.3582,0,-88.5681:73:35:38:1387:1287 0/1:-138.581,0,-125.345:98:47:51:1947:1786:47,51 1/1:-383.081,-32.8439,0:121:1:120:4488:37 1/1:-127.506,-11.7402,0:39:0:39:1474:0 1/1:-297.063,-27.3937,0:91:0:91:3441:0 0/1:-83.7345,0,-133.394:83:49:34:1255:1824:49,34 1/1:-126.708,-11.4391,0:38:0:38:1466:0:0,38 1/1:-114.103,-10.5361,0:35:0:35:1317:0 1/1:-288.23,-26.4906,0:88:0:88:3358:0 1/1:-126.399,-11.4391,0:38:0:38:1462:0:0,38 1/1:-400.096,-35.7294,0:124:1:123:4662:16:1,123 1/1:-302.715,-29.5009,0:98:0:98:3498:0 1/1:-268.205,-25.2865,0:84:0:84:3097:0:0,84 1/1:-246.09,-22.8783,0:76:0:76:2844:0 1/1:-366.344,-35.8226,0:119:0:119:4255:0 1/1:-186.733,-17.4597,0:59:0:58:2160:0 1/1:-157.548,-15.0515,0:50:0:50:1818:0 1/1:-274.591,-25.2865,0:84:0:84:3177:0 1/1:-228.272,-21.3731,0:71:0:71:2639:0 0/1:-65.1227,0,-117.834:70:43:27:995:1607 1/1:-130.24,-12.0412,0:40:0:40:1505:0 0/1:-140.395,0,-81.561:87:33:54:1921:1240 +chr10 121411171 . G A 427.65 . AB=0.490196;ABP=3.05288;AC=1;AF=0.5;AN=2;AO=25;CIGAR=1X;DP=51;DPB=51;DPRA=0;EPP=17.6895;EPPR=15.0369;GTI=0;LEN=1;MEANALT=1;MQM=41.24;MQMR=42;NS=1;NUMALT=1;ODDS=98.4704;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=838;QR=864;RO=26;RPL=0;RPP=57.2971;RPPR=59.4686;RPR=25;RUN=1;SAF=19;SAP=17.6895;SAR=6;SF=11;SRF=19;SRP=15.0369;SRR=7;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=BAG3;GeneDetail.refGene=NM_004281:c.-17G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200388926;CLNALLELEID=140197;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant;CLNDISDB=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=0.0037;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0054;ExAC_nontcga_OTH=0.0042;ExAC_nontcga_SAS=0.0002;AF=0.0024;AF_popmax=0.0036;AF_male=0.0025;AF_female=0.0022;AF_raw=0.0024;AF_afr=0.0007;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0036;AF_fin=0.0020;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0038;non_neuro_AF_popmax=0.0038;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0022639;Kaviar_AC=350;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000034315|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1277052|N/A|SMARCA4|PAZAR,OREG1195793|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.729327;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-57.8041,0,-60.6674:51:26:25:838:864 . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 121429394 . G A 3578.57 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=120;CIGAR=1X;DP=121;DPB=121;DPRA=0;EPP=4.16842;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.8333;MQMR=0;NS=1;NUMALT=1;ODDS=170.96;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4328;QR=0;RO=0;RPL=20;RPP=118.822;RPPR=0;RPR=100;RUN=1;SAF=76;SAP=21.5402;SAR=44;SF=9;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 1/1:-375.763,-36.1236,0:121:0:120:4328:0:0,120 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 121429633 . T C 3862.00 . AB=0.474359;ABP=3.90116;AC=13;AF=0.5;AN=26;AO=74;CIGAR=1X;DP=4377;DPB=156;DPRA=0;EPP=3.0103;EPPR=18.2636;GTI=0;LEN=1;MEANALT=1;MQM=41.973;MQMR=41.9756;NS=1;NUMALT=1;ODDS=406.779;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2697;QR=3026;RO=82;RPL=41;RPP=4.88833;RPPR=9.78953;RPR=33;RUN=1;SAF=18;SAP=45.3834;SAR=56;SF=1,2,5,7,10,12,13,21,23,24,27,28,33;SRF=18;SRP=59.0449;SRR=64;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-187.615,0,-215.093:156:82:74:2697:3026 0/1:-407.22,0,-435.186:357:183:173:5948:6260 . . 0/1:-546.59,0,-623.522:460:239:220:7943:8813:239,220 . 0/1:-503.025,0,-578.057:440:231:205:7312:8220 . . 0/1:-388.986,0,-427.769:326:168:156:5649:6090:168,156 . 0/1:-587.067,0,-695.337:522:276:242:8568:9846:276,242 0/1:-491.272,0,-404.109:377:173:200:6943:5966 . . . . . . . 0/1:-86.468,0,-267.345:151:105:45:1505:3586:105,45 . 0/1:-517.002,0,-500.255:400:193:206:7366:7165 0/1:-155.464,0,-186.829:138:74:61:2259:2626:74,61 . . 0/1:-573.239,0,-536.352:463:225:234:8270:7812:225,234 0/1:-317.139,0,-397.285:304:164:137:4706:5651 . . . . 0/1:-396.852,0,-320.088:283:128:155:5587:4667 . . . +chr10 121432002 . A G 5248.37 . AB=0.565217;ABP=16.6056;AC=1;AF=0.5;AN=2;AO=208;CIGAR=1X;DP=368;DPB=368;DPRA=0;EPP=5.68288;EPPR=3.49888;GTI=0;LEN=1;MEANALT=1;MQM=41.7067;MQMR=41.5375;NS=1;NUMALT=1;ODDS=891.696;PAIRED=0.985577;PAIREDR=0.98125;PAO=0;PQA=0;PQR=0;PRO=0;QA=7436;QR=5876;RO=160;RPL=92;RPP=9.02361;RPPR=6.48466;RPR=116;RUN=1;SAF=102;SAP=3.17734;SAR=106;SF=4;SRF=79;SRP=3.06459;SRR=81;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=BAG3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=BAG3:NM_004281:exon3:c.A743G:p.H248R;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369947845;CLNALLELEID=198232;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,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.009;SIFT_converted_rankscore=0.574;SIFT_pred=D;Polyphen2_HDIV_score=0.506;Polyphen2_HDIV_rankscore=0.354;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.091;Polyphen2_HVAR_rankscore=0.284;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.629;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.477;MutationTaster_pred=D;MutationAssessor_score=2.48;MutationAssessor_score_rankscore=0.723;MutationAssessor_pred=M;FATHMM_score=-1.37;FATHMM_converted_rankscore=0.811;FATHMM_pred=T;PROVEAN_score=-2.03;PROVEAN_converted_rankscore=0.701;PROVEAN_pred=N;VEST3_score=0.311;VEST3_rankscore=0.372;MetaSVM_score=-0.399;MetaSVM_rankscore=0.721;MetaSVM_pred=T;MetaLR_score=0.387;MetaLR_rankscore=0.742;MetaLR_pred=T;M-CAP_score=0.026;M-CAP_rankscore=0.491;M-CAP_pred=D;REVEL_score=0.322;REVEL_rankscore=0.648;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.801;CADD_raw_rankscore=0.644;CADD_phred=24.8;DANN_score=0.998;DANN_rankscore=0.843;fathmm-MKL_coding_score=0.860;fathmm-MKL_coding_rankscore=0.449;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.183;Eigen-PC-raw=0.314;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=6.04;GERP++_RS_rankscore=0.980;phyloP100way_vertebrate=3.254;phyloP100way_vertebrate_rankscore=0.509;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=13.587;SiPhy_29way_logOdds_rankscore=0.612;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=2.829e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=3.687e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.871461;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-534.234,0,-396.002:368:160:208:7436:5876 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr10 121432040 . C T 2418.44 . AB=0.525253;ABP=4.107;AC=1;AF=0.5;AN=2;AO=104;CIGAR=1X;DP=198;DPB=198;DPRA=0;EPP=3.76196;EPPR=3.03365;GTI=0;LEN=1;MEANALT=2;MQM=41.6442;MQMR=41.8065;NS=1;NUMALT=1;ODDS=489.593;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3560;QR=3198;RO=93;RPL=55;RPP=3.76196;RPPR=3.59403;RPR=49;RUN=1;SAF=38;SAP=19.3799;SAR=66;SF=18;SRF=41;SRP=5.83555;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-250.335,0,-219.597:198:93:104:3560:3198 . . . . . . . . . . . . . . . . . . +chr10 121436068 . T G 4999.16 . AB=0.525547;ABP=5.34027;AC=6;AF=0.5;AN=12;AO=216;CIGAR=1X;DP=2435;DPB=411;DPRA=0;EPP=41.6545;EPPR=22.755;GTI=0;LEN=1;MEANALT=2;MQM=41.5093;MQMR=41.6186;NS=1;NUMALT=1;ODDS=1061.54;PAIRED=0.986111;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7735;QR=6869;RO=194;RPL=113;RPP=4.01561;RPPR=3.72666;RPR=103;RUN=1;SAF=116;SAP=5.5839;SAR=100;SF=2,3,6,14,25,26;SRF=91;SRP=4.62211;SRR=103;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-545.379,0,-470.62:411:194:216:7735:6869 0/1:-398.921,0,-520.774:355:197:158:5835:7259:197,158 . . 0/1:-393.779,0,-345.562:288:137:151:5530:5005:137,151 . . . . . . . 0/1:-431.67,0,-399.68:324:158:166:6097:5724 . . . . . . . . . . 0/1:-745.297,0,-743.173:587:293:293:10638:10605:293,293 0/1:-553.549,0,-600.222:470:240:229:8022:8537 . . . . . . . . . . +chr10 121436286 . C T 2138.67 . AB=0.502732;ABP=3.02217;AC=6;AF=0.5;AN=12;AO=92;CIGAR=1X;DP=1192;DPB=183;DPRA=0;EPP=7.63648;EPPR=3.03416;GTI=0;LEN=1;MEANALT=1;MQM=40.8696;MQMR=41.9341;NS=1;NUMALT=1;ODDS=500.682;PAIRED=0.98913;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3327;QR=3407;RO=91;RPL=28;RPP=33.5997;RPPR=51.3315;RPR=64;RUN=1;SAF=63;SAP=30.2953;SAR=29;SF=2,3,6,14,25,26;SRF=61;SRP=25.942;SRR=30;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-230.246,0,-239.681:183:91:92:3327:3407 0/1:-189.368,0,-264.231:180:103:77:2823:3701:103,77 . . 0/1:-171.906,0,-159.611:131:64:67:2446:2290:64,67 . . . . . . . 0/1:-179.127,0,-258.793:166:95:71:2647:3570 . . . . . . . . . . 0/1:-352.776,0,-368.858:286:145:138:5106:5272:145,138 0/1:-237.666,0,-359.043:246:142:104:3595:5048 . . . . . . . . . . +chr10 121436362 . A G 6183.63 . AB=0.461832;ABP=6.32553;AC=59;AF=0.5;AN=74;AO=121;CIGAR=1X;DP=10015;DPB=262;DPRA=0;EPP=14.2266;EPPR=5.61299;GTI=0;LEN=1;MEANALT=1;MQM=41.6612;MQMR=41.0355;NS=1;NUMALT=1;ODDS=638.667;PAIRED=1;PAIREDR=0.985816;PAO=0;PQA=0;PQR=0;PRO=0;QA=4210;QR=5200;RO=141;RPL=60;RPP=3.02825;RPPR=4.87376;RPR=61;RUN=1;SAF=74;SAP=16.093;SAR=47;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=84;SRP=14.2373;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-286.859,0,-363.765:262:141:121:4210:5200:141,121 1/1:-316.482,-30.7051,0:102:0:102:3644:0 1/1:-772.324,-77.6657,0:258:0:258:8925:0 1/1:-753.938,-74.0534,0:246:0:246:8718:0:0,246 0/1:-363.645,0,-442.64:321:173:146:5323:6210 0/1:-404.403,0,-431.342:333:172:161:5825:6156:172,161 0/1:-268.818,0,-197.719:186:83:103:3752:2923:83,103 1/1:-1174.6,-114.692,0:382:0:381:13546:0 0/1:-306.692,0,-260.2:223:103:119:4324:3778 1/1:-816.069,-76.8143,0:265:1:264:9491:30:1,264 1/1:-662.555,-64.7215,0:215:0:215:7685:0:0,215 1/1:-1179.84,-114.49,0:398:2:394:13661:53 0/1:-482.371,0,-575.794:417:222:194:7066:8076:222,194 0/1:-439.406,0,-401.984:343:168:175:6263:5823 1/1:-649.158,-64.1194,0:213:0:213:7467:0 0/1:-435.301,0,-398.186:336:159:174:6190:5788 1/1:-965.689,-92.1884,0:313:1:311:11172:19:1,311 1/1:-1019.27,-97.4399,0:329:1:328:11845:16 1/1:-474.96,-47.1181,0:159:1:158:5495:16 1/1:-990.69,-96.6306,0:322:0:321:11543:0 1/1:-993.55,-96.6306,0:321:0:321:11532:0:0,321 0/1:-300.154,0,-84.2072:160:46:114:4005:1511:46,114 0/1:-165.835,0,-199.036:159:86:73:2465:2824 1/1:-980.978,-87.192,0:326:3:320:11445:115 0/1:-187.847,0,-183.505:151:75:75:2689:2626:75,75 1/1:-1201.84,-118.004,0:393:0:392:13926:0:0,392 1/1:-940.502,-97.2327,0:325:0:323:10875:0 1/1:-998.368,-99.6409,0:331:0:331:11596:0:0,331 1/1:-616.68,-62.6142,0:208:0:208:7123:0 0/1:-478.147,0,-496.975:411:207:202:6964:7155 1/1:-839.038,-81.2781,0:270:0:270:9677:0 1/1:-603.33,-61.4101,0:204:0:204:6917:0 0/1:-290.876,0,-363.58:266:144:122:4263:5106 1/1:-639.522,-61.7558,0:215:2:213:7395:32 1/1:-679.305,-65.3235,0:217:0:217:7873:0 0/1:-200.445,0,-212.513:167:83:84:2885:3037 0/1:-339.23,0,-332.309:268:131:137:4852:4752 +chr11 2608850 . G T 862.09 . AB=0.45679;ABP=4.32391;AC=1;AF=0.5;AN=2;AO=37;CIGAR=1X;DP=81;DPB=81;DPRA=0;EPP=3.06899;EPPR=4.78696;GTI=0;LEN=1;MEANALT=1;MQM=41.8919;MQMR=42;NS=1;NUMALT=1;ODDS=198.504;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1341;QR=1649;RO=44;RPL=19;RPP=3.06899;RPPR=4.78696;RPR=18;RUN=1;SAF=19;SAP=3.06899;SAR=18;SF=9;SRF=22;SRP=3.0103;SRR=22;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNQ1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNQ1:NM_000218:exon9:c.G1179T:p.K393N,KCNQ1:NM_181798:exon9:c.G798T:p.K266N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12720457;CLNALLELEID=77916;CLNDN=Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Familial_atrial_fibrillation|Romano-Ward_syndrome|not_specified|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:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.174;SIFT_converted_rankscore=0.225;SIFT_pred=T;Polyphen2_HDIV_score=0.176;Polyphen2_HDIV_rankscore=0.419;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.091;Polyphen2_HVAR_rankscore=0.458;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=N;MutationTaster_score=0.984;MutationTaster_converted_rankscore=0.412;MutationTaster_pred=D;MutationAssessor_score=2.16;MutationAssessor_score_rankscore=0.606;MutationAssessor_pred=M;FATHMM_score=-5.83;FATHMM_converted_rankscore=0.994;FATHMM_pred=D;PROVEAN_score=-2.25;PROVEAN_converted_rankscore=0.503;PROVEAN_pred=N;VEST3_score=0.514;VEST3_rankscore=0.557;MetaSVM_score=0.849;MetaSVM_rankscore=0.950;MetaSVM_pred=D;MetaLR_score=0.939;MetaLR_rankscore=0.980;MetaLR_pred=D;M-CAP_score=0.268;M-CAP_rankscore=0.898;M-CAP_pred=D;REVEL_score=0.554;REVEL_rankscore=0.818;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.832;CADD_raw_rankscore=0.173;CADD_phred=9.659;DANN_score=0.961;DANN_rankscore=0.280;fathmm-MKL_coding_score=0.786;fathmm-MKL_coding_rankscore=0.385;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.598;Eigen-PC-raw=-0.593;GenoCanyon_score=0.006;GenoCanyon_score_rankscore=0.112;integrated_fitCons_score=0.677;integrated_fitCons_score_rankscore=0.550;integrated_confidence_value=0;GERP++_RS=0.592;GERP++_RS_rankscore=0.166;phyloP100way_vertebrate=0.568;phyloP100way_vertebrate_rankscore=0.232;phyloP20way_mammalian=-0.234;phyloP20way_mammalian_rankscore=0.093;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.942;phastCons20way_mammalian_rankscore=0.416;SiPhy_29way_logOdds=4.895;SiPhy_29way_logOdds_rankscore=0.130;Interpro_domain=Ion_transport_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=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0015;AF=0.0005;AF_popmax=0.0035;AF_male=0.0005;AF_female=0.0005;AF_raw=0.0005;AF_afr=0.0001;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0005;AF_fin=0.0009;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=0.0010349;Kaviar_AC=160;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.827696;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-92.065,0,-118.426:81:44:37:1341:1649:44,37 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 2683177 . C T 3266.14 . AB=0.487365;ABP=3.39442;AC=1;AF=0.5;AN=2;AO=135;CIGAR=1X;DP=277;DPB=277;DPRA=0;EPP=7.65886;EPPR=16.7732;GTI=0;LEN=1;MEANALT=1;MQM=41.8148;MQMR=41.9859;NS=1;NUMALT=1;ODDS=752.057;PAIRED=1;PAIREDR=0.992958;PAO=0;PQA=0;PQR=0;PRO=0;QA=4975;QR=5215;RO=142;RPL=24;RPP=124.758;RPPR=116.11;RPR=111;RUN=1;SAF=77;SAP=8.81698;SAR=58;SF=8;SRF=80;SRP=7.96493;SRR=62;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-347.589,0,-370.096:277:142:135:4975:5215 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 2790163 . T C 5268.82 . AB=0.487476;ABP=3.71739;AC=8;AF=0.5;AN=16;AO=253;CIGAR=1X;DP=3665;DPB=519;DPRA=0;EPP=9.26723;EPPR=7.71244;GTI=0;LEN=1;MEANALT=1;MQM=41.7708;MQMR=41.5414;NS=1;NUMALT=1;ODDS=1457.21;PAIRED=1;PAIREDR=0.981203;PAO=0;PQA=0;PQR=0;PRO=0;QA=9297;QR=9708;RO=266;RPL=169;RPP=65.0217;RPPR=66.2279;RPR=84;RUN=1;SAF=120;SAP=4.46081;SAR=133;SF=3,8,11,21,22,23,27,29;SRF=120;SRP=8.52878;SRR=146;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-647.349,0,-680.858:519:266:253:9297:9708:266,253 . . . . 0/1:-539.208,0,-622.299:444:233:211:7763:8741 . . 0/1:-554.31,0,-821.396:542:312:230:8271:11417 . . . . . . . . . 0/1:-87.985,0,-381.027:185:140:45:1650:5055:140,45 0/1:-217.281,0,-271.651:193:106:87:3171:3805 0/1:-747.297,0,-843.497:609:317:291:10743:11892 . . . 0/1:-720.039,0,-601.936:518:242:276:10147:8760:242,276 . 0/1:-818.901,0,-830.454:655:322:330:11779:11854 . . . . . . . +chr11 2797237 . G A 6459.81 . AB=0.507937;ABP=3.25157;AC=13;AF=0.5;AN=24;AO=224;CIGAR=1X;DP=5519;DPB=441;DPRA=0;EPP=42.7172;EPPR=32.3252;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9028;NS=1;NUMALT=1;ODDS=1221.27;PAIRED=0.991071;PAIREDR=0.99537;PAO=0;PQA=0;PQR=0;PRO=0;QA=8139;QR=7749;RO=216;RPL=144;RPP=42.7172;RPPR=13.3047;RPR=80;RUN=1;SAF=114;SAP=3.16541;SAR=110;SF=0,1,2,6,8,10,19,23,24,25,26,29;SRF=109;SRP=3.05051;SRR=107;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-574.668,0,-541.62:441:216:224:8139:7749:216,224 0/1:-207.821,0,-230.525:170:88:82:2985:3241 0/1:-579.839,0,-626.03:481:250:230:8377:8847 . . . 0/1:-368.983,0,-373.93:294:150:144:5269:5334:150,144 . 0/1:-515.835,0,-608.945:449:239:209:7519:8565 . 0/1:-643.134,0,-625.098:506:247:256:9238:8954:247,256 . . . . . . . . 1/1:-1715.79,-160.811,0:554:2:549:19917:56 . . . 0/1:-841.66,0,-678.296:596:279:317:11830:9876 0/1:-215.785,0,-216.999:169:86:83:3073:3069:86,83 0/1:-816.213,0,-853.958:663:336:327:11734:12149:336,327 0/1:-645.674,0,-697.143:550:282:268:9374:9922 . . 0/1:-760.177,0,-796.965:646:332:310:11018:11437 . . . . . . . +chr11 2797320 . A G 4482.63 . AB=0.51751;ABP=3.69469;AC=46;AF=0.5;AN=68;AO=133;CIGAR=1X;DP=8713;DPB=257;DPRA=0;EPP=36.0722;EPPR=66.053;GTI=0;LEN=1;MEANALT=1;MQM=41.6917;MQMR=42;NS=1;NUMALT=1;ODDS=696.637;PAIRED=0.992481;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=4762;QR=4584;RO=124;RPL=90;RPP=39.0763;RPPR=36.9133;RPR=43;RUN=1;SAF=72;SAP=4.98585;SAR=61;SF=0,1,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=64;SRP=3.29049;SRR=60;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-336.278,0,-319.337:257:124:133:4762:4584:124,133 0/1:-121.665,0,-161.545:110:61:49:1773:2245 . 0/1:-326.928,0,-259.778:226:102:124:4536:3801:102,124 1/1:-1064.46,-105.059,0:349:0:349:12248:0 1/1:-998.251,-92.1605,0:329:2:326:11573:74:2,326 0/1:-257.61,0,-243.918:199:94:105:3647:3510:94,105 0/1:-463.836,0,-470.886:369:181:188:6647:6764 0/1:-295.49,0,-328.516:242:126:116:4247:4642 1/1:-638.844,-60.9818,0:208:1:206:7397:15:1,206 . 1/1:-909.203,-88.8039,0:296:0:295:10498:0 0/1:-413.166,0,-532:370:202:168:6038:7437:202,168 0/1:-320.199,0,-337.701:261:132:129:4577:4875 1/1:-587.632,-55.9916,0:186:0:186:6771:0 0/1:-424.241,0,-489.505:361:187:174:6155:6915 0/1:-370.964,0,-329.809:274:127:145:5248:4763:127,145 1/1:-1141.95,-110.478,0:367:0:367:13159:0 1/1:-485.444,-44.3186,0:157:2:155:5611:31 . 0/1:-404.267,0,-521.429:368:201:166:5927:7357:201,166 1/1:-333.385,-32.5112,0:108:0:108:3834:0:0,108 1/1:-239.595,-24.0824,0:81:0:80:2760:0 0/1:-397.326,0,-481.587:343:183:160:5772:6815 0/1:-118.057,0,-136.121:99:51:47:1691:1917:51,47 0/1:-439.565,0,-584.544:408:223:184:6467:8205:223,184 0/1:-421.491,0,-426.976:351:173:176:6054:6175 1/1:-867.604,-85.1915,0:284:0:283:10017:0:0,283 1/1:-722.109,-74.0534,0:246:0:246:8291:0 0/1:-539.411,0,-438.804:409:184:222:7632:6507 0/1:-227.738,0,-306.251:211:117:94:3342:4267 0/1:-262.998,0,-183.624:181:75:106:3636:2764 0/1:-307.15,0,-364.169:265:140:125:4454:5130 0/1:-324.422,0,-307.662:249:120:129:4583:4414 1/1:-528.342,-48.8984,0:172:1:171:6119:29 0/1:-126.219,0,-139.797:103:53:50:1804:1973 0/1:-396.754,0,-294.914:274:121:152:5527:4380 +chr11 2798305 . T C 6751.47 . AB=0.43908;ABP=17.0325;AC=18;AF=0.5;AN=32;AO=191;CIGAR=1X;DP=7490;DPB=435;DPRA=0;EPP=5.56832;EPPR=8.1364;GTI=0;LEN=1;MEANALT=1;MQM=41.9581;MQMR=41.5902;NS=1;NUMALT=1;ODDS=1071.06;PAIRED=1;PAIREDR=0.987705;PAO=0;PQA=0;PQR=0;PRO=0;QA=7089;QR=9061;RO=244;RPL=139;RPP=89.062;RPPR=167.615;RPR=52;RUN=1;SAF=81;SAP=12.5716;SAR=110;SF=3,4,5,6,9,11,20,21,22,24,25,26,27,28,29,36;SRF=114;SRP=5.28857;SRR=130;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-483.781,0,-648.478:435:244:191:7089:9061:244,191 1/1:-1837.8,-171.85,0:578:1:575:21251:17 0/1:-955.608,0,-724.43:650:288:360:13307:10661:288,360 0/1:-519.158,0,-415.46:356:162:194:7230:6039:162,194 . . 0/1:-576.451,0,-578.704:449:222:223:8208:8263:222,223 . 0/1:-576.813,0,-696.722:503:269:233:8397:9859 . . . . . . . . 0/1:-769.403,0,-815.496:613:311:301:11007:11575:311,301 0/1:-259.241,0,-233.021:187:89:98:3636:3340:89,98 0/1:-231.197,0,-301.64:201:110:91:3363:4188 . 1/1:-658.246,-61.7112,0:205:0:205:7626:0:0,205 0/1:-874.872,0,-854.318:685:337:347:12475:12295:337,347 0/1:-734.258,0,-675.512:558:264:292:10429:9750 0/1:-765.114,0,-774.655:612:307:304:10974:11063:307,304 0/1:-407.958,0,-364.55:304:147:157:5774:5295 0/1:-779.871,0,-768.013:614:300:313:11129:10997 . . . . . . 0/1:-744.939,0,-646.431:540:252:288:10594:9362 +chr11 2799299 . G T 2825.89 . AB=0.474708;ABP=4.43823;AC=1;AF=0.5;AN=2;AO=122;CIGAR=1X;DP=257;DPB=257;DPRA=0;EPP=3.29508;EPPR=5.34382;GTI=0;LEN=1;MEANALT=2;MQM=40.8361;MQMR=41.6866;NS=1;NUMALT=1;ODDS=650.685;PAIRED=0.967213;PAIREDR=0.992537;PAO=0;PQA=0;PQR=0;PRO=0;QA=4341;QR=4913;RO=134;RPL=83;RPP=37.4691;RPPR=53.8292;RPR=39;RUN=1;SAF=52;SAP=8.77716;SAR=70;SF=8;SRF=60;SRP=6.18648;SRR=74;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-293.536,0,-346.639:257:134:122:4341:4913 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 6629665 . C T 7778.88 . AB=0.470588;ABP=6.45911;AC=21;AF=0.5;AN=30;AO=216;CIGAR=1X;DP=5695;DPB=459;DPRA=0;EPP=52.2706;EPPR=32.0437;GTI=0;LEN=1;MEANALT=1;MQM=41.8889;MQMR=41.8436;NS=1;NUMALT=1;ODDS=1243.22;PAIRED=1;PAIREDR=0.995885;PAO=0;PQA=0;PQR=0;PRO=0;QA=8003;QR=9022;RO=243;RPL=125;RPP=14.6317;RPPR=21.1059;RPR=91;RUN=1;SAF=98;SAP=7.03155;SAR=118;SF=4,5,6,7,9,13,15,16,19,21,22,23,27,32,34;SRF=122;SRP=3.01924;SRR=121;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-554.049,0,-642.613:459:243:216:8003:9022 0/1:-567.287,0,-585.169:446:224:221:8100:8294:224,221 1/1:-1049.84,-95.9865,0:331:1:330:12193:38:1,330 0/1:-785.907,0,-657.737:558:261:296:11039:9557 . 0/1:-389.649,0,-484.431:335:182:152:5679:6747:182,152 . . . 0/1:-641.084,0,-547.772:454:213:241:9002:7890 . 1/1:-1145.57,-108.371,0:362:0:360:13299:0 1/1:-1263.15,-114.802,0:393:1:392:14690:36:1,392 . . 1/1:-1247.17,-113.747,0:390:1:389:14469:38 . 0/1:-99.5507,0,-330.85:175:126:49:1759:4421:126,49 0/1:-234.663,0,-238.687:187:94:93:3349:3394 1/1:-1422.61,-132.453,0:440:0:440:16452:0 . . . 1/1:-1632.45,-155.633,0:518:0:517:18929:0:0,517 . . . . 0/1:-439.984,0,-455.227:344:175:169:6301:6436 . 0/1:-356.491,0,-430.12:303:164:138:5190:6026 . . +chr11 6630028 . TCCCCCAT TCCCCAT 10136.99 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=312;CIGAR=1M1D6M;DP=12317;DPB=273.375;DPRA=0;EPP=10.1372;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8622;MQMR=0;NS=1;NUMALT=1;ODDS=441.288;PAIRED=1;PAIREDR=0;PAO=1.5;PQA=42;PQR=42;PRO=1.5;QA=11271;QR=0;RO=0;RPL=140;RPP=10.1372;RPPR=0;RPR=172;RUN=1;SAF=150;SAP=4.01252;SAR=162;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 1/1:-978.774,-95.7275,0:312:0:312:11271:0:0,312 1/1:.,.,0:130:0:129:4700:0 1/1:.,.,0:329:0:322:11184:0 1/1:-1029.81,-100.243,0:339:0:333:11868:0:0,333 1/1:.,.,0:384:0:381:13745:0 1/1:-1160.02,-112.886,0:376:0:373:13376:0:0,373 1/1:-833.129,-82.7833,0:273:0:271:9579:0:0,271 1/1:.,.,0:414:0:411:14354:0 1/1:.,.,0:315:0:312:11030:0 1/1:-1073.6,-105.963,0:354:0:348:12361:0:0,348 1/1:-805.216,-77.6657,0:263:0:258:9279:0:0,258 1/1:.,.,0:458:0:451:15188:0 1/1:-1424.02,-137.872,0:461:0:458:16420:0:0,458 1/1:.,.,0:439:0:432:14760:0 1/1:.,.,0:294:0:290:10276:0 1/1:.,.,0:408:0:407:14162:0 1/1:-1095.21,-106.866,0:357:0:353:12624:0:0,353 1/1:.,.,0:314:0:312:11135:0 1/1:.,.,0:241:0:237:8471:0 1/1:.,.,0:360:0:356:12763:0 1/1:-1289.73,-125.831,0:430:0:418:14874:0:0,418 1/1:-520.49,-51.7772,0:175:0:172:5980:0:0,172 1/1:.,.,0:219:0:217:7527:0 1/1:.,.,0:397:0:392:14074:0 1/1:-543.192,-53.2823,0:178:0:177:6249:0:0,177 1/1:-1480.98,-147.806,0:493:0:487:17035:0:0,487 1/1:.,.,0:445:0:431:14631:0 1/1:-1283,-130.346,0:442:0:431:14761:0:0,431 1/1:.,.,0:243:0:238:7977:0 1/1:.,.,0:479:0:469:15710:0 1/1:.,.,0:274:0:273:9527:0 1/1:.,.,0:224:0:217:7278:0 1/1:.,.,0:348:0:343:12224:0 1/1:.,.,0:326:0:325:11359:0 1/1:.,.,0:259:0:258:9154:0 1/1:.,.,0:204:0:202:7260:0 1/1:.,.,0:360:0:358:12812:0 +chr11 6630223 . G C 5378.60 . AB=0.532338;ABP=6.66183;AC=1;AF=0.5;AN=2;AO=214;CIGAR=1X;DP=402;DPB=402;DPRA=0;EPP=4.02501;EPPR=3.5793;GTI=0;LEN=1;MEANALT=2;MQM=41.4393;MQMR=41.7005;NS=1;NUMALT=1;ODDS=1075.07;PAIRED=0.990654;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7779;QR=6889;RO=187;RPL=142;RPP=52.7309;RPPR=12.7761;RPR=72;RUN=1;SAF=108;SAP=3.05089;SAR=106;SF=15;SRF=99;SRP=4.41537;SRR=88;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ILK;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-550.59,0,-475.567:402:187:214:7779:6889 . . . . . . . . . . . . . . . . . . . . . +chr11 6630410 . T C 3732.22 . AB=0.482456;ABP=3.31507;AC=12;AF=0.5;AN=22;AO=55;CIGAR=1X;DP=3169;DPB=114;DPRA=0;EPP=4.94488;EPPR=43.0905;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=292.611;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1962;QR=2229;RO=59;RPL=31;RPP=4.94488;RPPR=16.2968;RPR=24;RUN=1;SAF=41;SAP=31.7922;SAR=14;SF=1,3,10,18,20,21,26,29,31,33,36;SRF=34;SRP=5.99147;SRR=25;TYPE=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:GL:DP:RO:AO:QA:QR:AD . 0/1:-136.476,0,-158.476:114:59:55:1962:2229 . 0/1:-393.53,0,-344.87:287:134:153:5520:4999:134,153 . . . . . . 0/1:-371.67,0,-371.986:287:140:146:5264:5307:140,146 . . . . . . . 0/1:-250.082,0,-226.596:188:88:100:3538:3274 . 0/1:-475.538,0,-434.209:356:170:185:6701:6291:170,185 0/1:-84.0433,0,-362.05:172:129:43:1559:4794:129,43 . . . . 0/1:-551.46,0,-599.98:472:239:231:7970:8587 . . 0/1:-607.584,0,-608.962:481:237:242:8639:8715 . 1/1:-671.475,-66.2266,0:220:0:220:7711:0 . 0/1:-335.522,0,-358.77:268:135:132:4774:5094 . . 0/1:-352.521,0,-480.008:324:180:144:5184:6685 +chr11 6630524 . C T 2418.58 . AB=0.515152;ABP=3.40511;AC=1;AF=0.5;AN=2;AO=102;CIGAR=1X;DP=198;DPB=198;DPRA=0;EPP=3.7767;EPPR=3.37221;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.8125;NS=1;NUMALT=1;ODDS=508.933;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3808;QR=3526;RO=96;RPL=5;RPP=183.2;RPPR=155.104;RPR=97;RUN=1;SAF=47;SAP=4.37279;SAR=55;SF=34;SRF=51;SRP=3.8246;SRR=45;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-270.347,0,-245.433:198:96:102:3808:3526 . . +chr11 6630833 . G A 9356.74 . AB=0.460526;ABP=11.239;AC=21;AF=0.5;AN=30;AO=280;CIGAR=1X;DP=7100;DPB=608;DPRA=0;EPP=38.8706;EPPR=38.398;GTI=0;LEN=1;MEANALT=2;MQM=41.7857;MQMR=41.8869;NS=1;NUMALT=1;ODDS=1629.54;PAIRED=0.996429;PAIREDR=0.993884;PAO=0;PQA=0;PQR=0;PRO=0;QA=10453;QR=12055;RO=327;RPL=139;RPP=3.04132;RPPR=3.81381;RPR=141;RUN=1;SAF=151;SAP=6.76385;SAR=129;SF=4,5,6,7,9,13,15,16,19,21,22,23,27,32,34;SRF=169;SRP=3.81381;SRR=158;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-719.934,0,-862.552:608:327:280:10453:12055 0/1:-768.131,0,-788.95:593:300:292:10975:11181:300,292 1/1:-1236.74,-100.241,0:393:6:387:14542:204:6,387 0/1:-714.525,0,-832.723:606:321:284:10417:11719 . 0/1:-521.013,0,-608.753:433:229:203:7524:8531:229,203 . . . 0/1:-681.39,0,-754.827:569:297:272:9858:10654 . 1/1:-1548.15,-144.494,0:480:0:480:17931:0 1/1:-1649.87,-154.428,0:514:0:513:19144:0:0,513 . . 1/1:-1514.1,-142.086,0:473:0:472:17525:0 . 0/1:-122.973,0,-548.391:266:202:64:2334:7249:202,64 0/1:-282.731,0,-336.363:247:133:114:4115:4717 1/1:-1552.38,-138.895,0:483:2:480:18049:69 . . . 1/1:-1797.4,-169.486,0:568:1:567:20896:15:1,567 . . . . 0/1:-539.518,0,-592.155:436:228:208:7785:8336 . 0/1:-570.941,0,-554.713:431:213:218:8101:7885 . . +chr11 6631016 . C T 5360.16 . AB=0.530516;ABP=4.73321;AC=12;AF=0.5;AN=22;AO=113;CIGAR=1X;DP=4671;DPB=213;DPRA=0;EPP=32.2387;EPPR=22.5536;GTI=0;LEN=1;MEANALT=1;MQM=41.823;MQMR=42;NS=1;NUMALT=1;ODDS=566.5;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4235;QR=3711;RO=100;RPL=60;RPP=3.95191;RPPR=13.5202;RPR=53;RUN=1;SAF=54;SAP=3.49071;SAR=59;SF=1,3,10,18,20,21,26,29,31,33,36;SRF=36;SRP=20.0346;SRR=64;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-301.937,0,-257.481:213:100:113:4235:3711 . 0/1:-489.625,0,-553.096:410:216:191:7090:7845:216,191 . . . . . . 0/1:-530.876,0,-576.462:430:224:206:7634:8189:224,206 . . . . . . . 0/1:-355.372,0,-493.018:331:190:141:5260:6857 . 0/1:-850.609,0,-836.658:656:330:325:12206:11937:330,325 0/1:-95.6641,0,-422.079:212:161:51:1832:5587:161,51 . . . . 0/1:-739.263,0,-766.636:606:307:298:10663:10969 . . 0/1:-760.371,0,-822.11:636:331:304:11017:11708 . 1/1:-972.41,-87.7319,0:316:3:312:11322:104 . 0/1:-488.042,0,-565.602:411:220:191:7107:7956 . . 0/1:-508.907,0,-634.619:450:245:202:7483:8875 +chr11 6631300 . G A 3745.63 . AB=0.477987;ABP=4.34869;AC=1;AF=0.5;AN=2;AO=152;CIGAR=1X;DP=318;DPB=318;DPRA=0;EPP=6.66752;EPPR=10.545;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=862.462;PAIRED=0.986842;PAIREDR=0.987952;PAO=0;PQA=0;PQR=0;PRO=0;QA=5585;QR=6167;RO=166;RPL=109;RPP=65.2401;RPPR=26.0855;RPR=43;RUN=1;SAF=71;SAP=4.4389;SAR=81;SF=34;SRF=83;SRP=3.0103;SRR=83;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-388.511,0,-439.113:318:166:152:5585:6167 . . +chr11 19207841 . C T 5212.55 . AB=0;ABP=0;AC=8;AF=1;AN=12;AO=135;CIGAR=1X;DP=1866;DPB=135;DPRA=0;EPP=4.31318;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9852;MQMR=0;NS=1;NUMALT=1;ODDS=191.755;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5145;QR=0;RO=0;RPL=43;RPP=41.6303;RPPR=0;RPR=92;RUN=1;SAF=73;SAP=4.95658;SAR=62;SF=1,2,11,23,26,35;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR . 1/1:-444.032,-40.6391,0:135:0:135:5145:0 1/1:-1003.02,-93.3193,0:312:0:310:11612:0 . . . . . . . . 0/1:-524.233,0,-625.043:446:237:209:7616:8759 . . . . . . . . . . . 0/1:-459.086,0,-525.913:376:197:178:6634:7394 . . 0/1:-514.597,0,-472.646:392:188:203:7332:6825 . . . . . . . . 0/1:-261.985,0,-279.374:205:105:100:3745:3939 . +chr11 19209713 . G A 4129.35 . AB=0.534653;ABP=6.17076;AC=1;AF=0.5;AN=2;AO=162;CIGAR=1X;DP=303;DPB=303;DPRA=0;EPP=3.0103;EPPR=3.39531;GTI=0;LEN=1;MEANALT=1;MQM=41.4321;MQMR=41.8723;NS=1;NUMALT=1;ODDS=796.139;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5970;QR=5129;RO=141;RPL=70;RPP=9.49791;RPPR=8.56989;RPR=92;RUN=1;SAF=75;SAP=4.9405;SAR=87;SF=5;SRF=73;SRP=3.39531;SRR=68;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CSRP3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CSRP3:NM_003476:exon4:c.C251T:p.T84M;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs777327517;CLNALLELEID=461041;CLNDN=Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12;CLNDISDB=MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.096;SIFT_converted_rankscore=0.310;SIFT_pred=T;Polyphen2_HDIV_score=0.963;Polyphen2_HDIV_rankscore=0.537;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.432;Polyphen2_HVAR_rankscore=0.436;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=1.955;MutationAssessor_score_rankscore=0.530;MutationAssessor_pred=M;FATHMM_score=-0.26;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-2.55;PROVEAN_converted_rankscore=0.551;PROVEAN_pred=D;VEST3_score=0.384;VEST3_rankscore=0.444;MetaSVM_score=-0.452;MetaSVM_rankscore=0.704;MetaSVM_pred=T;MetaLR_score=0.304;MetaLR_rankscore=0.675;MetaLR_pred=T;M-CAP_score=0.027;M-CAP_rankscore=0.498;M-CAP_pred=D;REVEL_score=0.263;REVEL_rankscore=0.580;MutPred_score=0.39;MutPred_rankscore=0.413;CADD_raw=5.210;CADD_raw_rankscore=0.704;CADD_phred=25.6;DANN_score=0.999;DANN_rankscore=0.931;fathmm-MKL_coding_score=0.997;fathmm-MKL_coding_rankscore=0.988;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.669;Eigen-PC-raw=0.720;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=5.64;GERP++_RS_rankscore=0.864;phyloP100way_vertebrate=6.662;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=0.959;phastCons20way_mammalian_rankscore=0.439;SiPhy_29way_logOdds=19.311;SiPhy_29way_logOdds_rankscore=0.941;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=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=2.59e-05;Kaviar_AC=4;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000954250|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.721358;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-421.039,0,-353.563:303:141:162:5970:5129:141,162 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47353498 . G A 4325.77 . AB=0.54039;ABP=8.09723;AC=9;AF=0.5;AN=18;AO=194;CIGAR=1X;DP=3045;DPB=359;DPRA=0;EPP=22.755;EPPR=32.0817;GTI=0;LEN=1;MEANALT=1;MQM=41.9897;MQMR=41.8909;NS=1;NUMALT=1;ODDS=947.877;PAIRED=1;PAIREDR=0.993939;PAO=0;PQA=0;PQR=0;PRO=0;QA=7337;QR=6200;RO=165;RPL=145;RPP=106.166;RPPR=69.3521;RPR=49;RUN=1;SAF=97;SAP=3.0103;SAR=97;SF=0,4,5,24,26,31,33,34,35;SRF=85;SRP=3.33931;SRR=80;TYPE=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\x3dOREG1183181|N/A|TFAP2C|PAZAR,OREG1504537|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.840870;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-525.649,0,-428.938:359:165:194:7337:6200:165,194 . . . 0/1:-711.895,0,-578.912:503:229:272:9975:8422 0/1:-619.67,0,-492.986:431:197:234:8704:7264:197,234 . . . . . . . . . . . . . . . . . . 0/1:-202.075,0,-242.404:171:94:77:2931:3376:94,77 . 0/1:-595.959,0,-631.316:495:254:241:8642:8975 . . . . 0/1:-386.246,0,-288.094:268:118:148:5395:4237 . 0/1:-333.553,0,-431.184:297:165:132:4885:5999 0/1:-373.903,0,-479.331:326:179:147:5467:6653 0/1:-308.392,0,-201.275:195:81:114:4243:2994 . +chr11 47353695 . C T 10699.30 . AB=0.489842;ABP=3.80438;AC=1;AF=0.5;AN=2;AO=434;CIGAR=1X;DP=886;DPB=886;DPRA=0;EPP=3.99096;EPPR=3.40204;GTI=0;LEN=1;MEANALT=3;MQM=41.6014;MQMR=41.882;NS=1;NUMALT=1;ODDS=2463.6;PAIRED=1;PAIREDR=0.993318;PAO=0;PQA=0;PQR=0;PRO=0;QA=15666;QR=15988;RO=449;RPL=176;RPP=36.6531;RPPR=23.4434;RPR=258;RUN=1;SAF=248;SAP=22.2433;SAR=186;SF=29;SRF=271;SRP=44.839;SRR=178;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon32:c.G3742A:p.G1248R;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202147520;CLNALLELEID=51909;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.039;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.726;Polyphen2_HDIV_rankscore=0.405;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.344;Polyphen2_HVAR_rankscore=0.408;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=0.025;MutationAssessor_score_rankscore=0.080;MutationAssessor_pred=N;FATHMM_score=-0.21;FATHMM_converted_rankscore=0.811;FATHMM_pred=T;PROVEAN_score=-5.31;PROVEAN_converted_rankscore=0.938;PROVEAN_pred=D;VEST3_score=0.383;VEST3_rankscore=0.718;MetaSVM_score=-0.763;MetaSVM_rankscore=0.572;MetaSVM_pred=T;MetaLR_score=0.201;MetaLR_rankscore=0.558;MetaLR_pred=T;M-CAP_score=0.580;M-CAP_rankscore=0.963;M-CAP_pred=D;REVEL_score=0.369;REVEL_rankscore=0.692;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.508;CADD_raw_rankscore=0.604;CADD_phred=24.3;DANN_score=0.991;DANN_rankscore=0.533;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_rankscore=0.609;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.235;Eigen-PC-raw=-0.235;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.351;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=3.6;GERP++_RS_rankscore=0.402;phyloP100way_vertebrate=4.764;phyloP100way_vertebrate_rankscore=0.617;phyloP20way_mammalian=0.060;phyloP20way_mammalian_rankscore=0.166;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.027;phastCons20way_mammalian_rankscore=0.143;SiPhy_29way_logOdds=11.518;SiPhy_29way_logOdds_rankscore=0.496;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=0.0004;ExAC_nontcga_ALL=3.794e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.373e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3dOREG1504537|N/A|EGR1|PAZAR,OREG1183181|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.793183;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1083.2,0,-1125.23:886:449:434:15666:15988 . . . . . . . +chr11 47354787 . C T 5513.65 . AB=0.58642;ABP=24.028;AC=17;AF=0.5;AN=32;AO=190;CIGAR=1X;DP=5634;DPB=324;DPRA=0;EPP=6.71323;EPPR=8.26073;GTI=0;LEN=1;MEANALT=1;MQM=41.9789;MQMR=42;NS=1;NUMALT=1;ODDS=731.634;PAIRED=0.989474;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6947;QR=4942;RO=134;RPL=64;RPP=46.9426;RPPR=28.9383;RPR=126;RUN=1;SAF=118;SAP=27.1936;SAR=72;SF=0,1,4,5,10,11,12,23,24,26,30,31,33,34,35,36;SRF=85;SRP=24.012;SRR=49;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-505.565,0,-331.937:324:134:190:6947:4942:134,190 0/1:-207.873,0,-137.688:136:57:79:2905:2062 . . 0/1:-767.185,0,-596.852:531:238:292:10676:8750 1/1:-1777.58,-168.826,0:567:1:564:20531:14:1,564 . . . . 0/1:-557.223,0,-411.405:374:164:210:7720:6066:164,210 0/1:-662.171,0,-509.972:471:207:263:9242:7525 0/1:-802.71,0,-605.777:549:242:306:11165:8889:242,306 . . . . . . . . . . 0/1:-591.499,0,-593.327:457:227:229:8404:8430 0/1:-236.608,0,-201.746:171:79:92:3315:2913:79,92 . 0/1:-594.678,0,-494.987:443:200:240:8380:7241 . . . 0/1:-453.762,0,-285.416:290:115:175:6227:4300 0/1:-319.924,0,-259.218:226:103:123:4489:3790 . 0/1:-389.764,0,-310.359:282:126:156:5471:4550 0/1:-413.257,0,-289.859:273:117:156:5699:4317 0/1:-262.385,0,-188.466:175:75:100:3627:2779 0/1:-561.06,0,-369.74:365:151:213:7730:5528 +chr11 47354905 . T C 3045.84 . AB=0.461783;ABP=6.99364;AC=12;AF=0.5;AN=24;AO=145;CIGAR=1X;DP=3289;DPB=314;DPRA=0;EPP=13.9276;EPPR=8.67669;GTI=0;LEN=1;MEANALT=1;MQM=41.9862;MQMR=41.8639;NS=1;NUMALT=1;ODDS=784.637;PAIRED=0.986207;PAIREDR=0.988166;PAO=0;PQA=0;PQR=0;PRO=0;QA=5217;QR=6233;RO=169;RPL=111;RPP=91.8011;RPPR=118.972;RPR=34;RUN=1;SAF=76;SAP=3.74411;SAR=69;SF=2,3,7,9,14,15,28,30,31,32,34,35;SRF=92;SRP=5.90131;SRR=77;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-358.49,0,-444.123:314:169:145:5217:6233 0/1:-395.196,0,-338.166:281:130:151:5533:4887:130,151 . . . 0/1:-575.289,0,-535.065:438:212:225:8151:7730 . 0/1:-350.388,0,-344.268:272:135:137:4979:4920:135,137 . . . . 0/1:-288.626,0,-408.172:270:151:118:4270:5721 0/1:-395.386,0,-503.989:361:196:164:5896:7113 . . . . . . . . . . . . 0/1:-257.82,0,-300.991:221:117:104:3748:4236 . 0/1:-204.715,0,-384.169:230:143:86:3156:5230 0/1:-261.411,0,-316.742:229:123:106:3811:4467 0/1:-348.67,0,-385.013:284:147:137:5005:5435 . 0/1:-237.515,0,-368.648:233:136:97:3543:5068 0/1:-183.737,0,-219.263:156:82:74:2709:3072 . +chr11 47356582 . GGGGC AGGGG 12.13 . AB=0.6;ABP=3.44459;AC=1;AF=0.5;AN=2;AO=3;CIGAR=1X3M1X;DP=5;DPB=5;DPRA=0;EPP=3.73412;EPPR=5.18177;GTI=0;LEN=5;MEANALT=2;MQM=29.6667;MQMR=42;NS=1;NUMALT=1;ODDS=0.997754;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=64;QR=37;RO=1;RPL=1;RPP=3.73412;RPPR=5.18177;RPR=2;RUN=1;SAF=3;SAP=9.52472;SAR=0;SF=24;SRF=0;SRP=5.18177;SRR=1;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;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\x3d99.837944;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-4.01846,0,-2.11759:5:1:3:64:37:1,3 . . . . . . . . . . . . +chr11 47357416 . G A 156.89 . AB=0.571429;ABP=3.32051;AC=2;AF=0.5;AN=4;AO=4;CIGAR=1X;DP=27;DPB=7;DPRA=0;EPP=11.6962;EPPR=9.52472;GTI=0;LEN=1;MEANALT=1;MQM=41.5;MQMR=42;NS=1;NUMALT=1;ODDS=3.66464;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=129;QR=88;RO=3;RPL=1;RPP=5.18177;RPPR=3.73412;RPR=3;RUN=1;SAF=3;SAP=5.18177;SAR=1;SF=1,10;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-9.32063,0,-5.9097:7:3:4:129:88 . . . . . . . . 0/1:-33.5192,0,-11.4805:20:6:14:507:197:6,14 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47358997 . G A 3246.11 . AB=0.52439;ABP=3.8577;AC=2;AF=0.5;AN=4;AO=86;CIGAR=1X;DP=529;DPB=164;DPRA=0;EPP=3.41429;EPPR=4.01252;GTI=0;LEN=1;MEANALT=1;MQM=39.5698;MQMR=40.4487;NS=1;NUMALT=1;ODDS=382.168;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3015;QR=2633;RO=78;RPL=27;RPP=28.866;RPPR=4.01252;RPR=59;RUN=1;SAF=52;SAP=11.1912;SAR=34;SF=1,10;SRF=54;SRP=28.0658;SRR=24;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-199.397,0,-175.136:164:78:86:3015:2633 . . . . . . . . 0/1:-477.316,0,-381.728:365:165:199:6992:5786:165,199 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47360053 . G C 1432.90 . AB=0.52381;ABP=3.21711;AC=2;AF=0.5;AN=4;AO=22;CIGAR=1X;DP=225;DPB=42;DPRA=0;EPP=4.58955;EPPR=6.91895;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=99.965;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=813;QR=715;RO=20;RPL=6;RPP=12.8806;RPPR=6.91895;RPR=16;RUN=1;SAF=15;SAP=9.32731;SAR=7;SF=1,10;SRF=14;SRP=9.95901;SRR=6;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-58.1679,0,-50.0413:42:20:22:813:715 . . . . . . . . 0/1:-250.955,0,-207.352:183:83:100:3511:3007:83,100 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47360197 . C A 1383.02 . AB=0.531532;ABP=3.96888;AC=1;AF=0.5;AN=2;AO=59;CIGAR=1X;DP=111;DPB=111;DPRA=0;EPP=3.34154;EPPR=13.7006;GTI=0;LEN=1;MEANALT=1;MQM=41.6949;MQMR=42;NS=1;NUMALT=1;ODDS=275.633;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2097;QR=1857;RO=52;RPL=45;RPP=38.3795;RPPR=11.1951;RPR=14;RUN=1;SAF=23;SAP=9.23028;SAR=36;SF=1;SRF=19;SRP=11.1951;SRR=33;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=MYBPC3:NM_000256:exon22:c.G2182T:p.E728X;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397515954;CLNALLELEID=51775;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|not_provided;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|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=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=13.358;CADD_raw_rankscore=0.991;CADD_phred=41;DANN_score=0.997;DANN_rankscore=0.825;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.957;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.165;Eigen-PC-raw=1.019;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=5.4;GERP++_RS_rankscore=0.779;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=0.993;phastCons20way_mammalian_rankscore=0.574;SiPhy_29way_logOdds=19.209;SiPhy_29way_logOdds_rankscore=0.937;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\x3d99.931797;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-148.776,0,-128.487:111:52:59:2097:1857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47361280 . A T 429.01 . AB=0.178571;ABP=279.408;AC=1;AF=0.5;AN=2;AO=55;CIGAR=1X;DP=308;DPB=308;DPRA=0;EPP=11.8936;EPPR=3.872;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.8214;NS=1;NUMALT=1;ODDS=98.7833;PAIRED=0.0181818;PAIREDR=0.00396825;PAO=0;PQA=0;PQR=0;PRO=0;QA=1985;QR=9414;RO=252;RPL=26;RPP=3.36563;RPPR=3.14817;RPR=29;RUN=1;SAF=30;SAP=3.99733;SAR=25;SF=21;SRF=133;SRP=4.69922;SRR=119;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon20:c.T1989A:p.A663A;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs375467797;CLNALLELEID=142021;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=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=3.805e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.386e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=6.371e-05;AF_popmax=0.0001;AF_male=5.723e-05;AF_female=7.183e-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=.;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\x3d99.917797;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-79.7915,0,-718.736:308:252:55:1985:9414:252,55 . . . . . . . . . . . . . . . +chr11 47362642 . C T 3592.10 . AB=0.488688;ABP=3.25594;AC=3;AF=0.5;AN=6;AO=108;CIGAR=1X;DP=892;DPB=221;DPRA=0;EPP=3.73412;EPPR=4.56684;GTI=0;LEN=1;MEANALT=1;MQM=41.963;MQMR=41.6637;NS=1;NUMALT=1;ODDS=614.729;PAIRED=0.962963;PAIREDR=0.982301;PAO=0;PQA=0;PQR=0;PRO=0;QA=3926;QR=3980;RO=113;RPL=66;RPP=14.5915;RPPR=29.3178;RPR=42;RUN=1;SAF=49;SAP=5.02092;SAR=59;SF=6,17,32;SRF=55;SRP=3.18325;SRR=58;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-275.044,0,-279.404:221:113:108:3926:3980:113,108 . . . . . . . . . . 0/1:-488.648,0,-483.876:386:194:190:6967:6890 . . . . . . . . . . . . . . 0/1:-345.301,0,-353.166:285:142:142:4964:5029 . . . . +chr11 47364259 . G C 5941.15 . AB=0.467308;ABP=7.83765;AC=1;AF=0.5;AN=2;AO=243;CIGAR=1X;DP=520;DPB=520;DPRA=0;EPP=61.6401;EPPR=99.5977;GTI=0;LEN=1;MEANALT=1;MQM=41.9136;MQMR=41.9097;NS=1;NUMALT=1;ODDS=1368;PAIRED=0.983539;PAIREDR=0.99278;PAO=0;PQA=0;PQR=0;PRO=0;QA=8950;QR=10227;RO=277;RPL=162;RPP=61.6401;RPPR=121.61;RPR=81;RUN=1;SAF=153;SAP=38.4777;SAR=90;SF=2;SRF=163;SRP=21.8323;SRR=114;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon16:c.C1494G:p.T498T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397515906;CLNALLELEID=51709;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=3.791e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.917e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.684e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.102e-05;AF=3.185e-05;AF_popmax=0.0012;AF_male=0;AF_female=7.182e-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=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;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\x3d99.913279;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . 0/1:-617.402,0,-728.236:520:277:243:8950:10227 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47365199 . G A 754.75 . AB=0.385965;ABP=9.44853;AC=22;AF=0.5;AN=38;AO=22;CIGAR=1X;DP=1154;DPB=57;DPRA=0;EPP=3.0103;EPPR=5.30951;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=87.9368;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=726;QR=1208;RO=34;RPL=19;RPP=28.2783;RPPR=68.4099;RPR=3;RUN=1;SAF=8;SAP=6.56362;SAR=14;SF=0,3,4,6,7,8,9,14,17,18,19,20,21,22,23,26,29,32,36;SRF=13;SRP=7.09778;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-47.0444,0,-88.4329:57:34:22:726:1208:34,22 . . 0/1:-39.5113,0,-81.4225:51:31:20:663:1110:31,20 0/1:-65.4357,0,-111.368:74:44:30:998:1555 . 0/1:-68.1963,0,-39.5918:47:18:29:936:613:18,29 0/1:-107.854,0,-73.5465:78:32:46:1509:1140 1/1:-153.864,-14.9962,0:55:1:53:1770:14 0/1:-83.4655,0,-59.5157:59:25:34:1151:892:25,34 . . . . 0/1:-75.1717,0,-44.1206:50:19:31:1029:676 . . 0/1:-67.5188,0,-128.433:84:51:33:1054:1758 0/1:-47.4069,0,-60.15:46:25:21:696:845 1/1:-158.574,-15.6536,0:52:0:52:1809:0 1/1:-260.454,-25.5876,0:85:0:85:2980:0:0,85 0/1:-34.6224,0,-31.6002:33:16:17:534:472:16,17 0/1:-15.6044,0,-24.342:20:11:8:241:341 0/1:-71.32,0,-98.1612:71:39:32:1055:1368 . . 0/1:-92.3329,0,-70.0178:69:31:37:1297:1031 . . 0/1:-103.919,0,-68.2064:80:33:46:1452:1058 . . 0/1:-97.953,0,-72.2095:74:33:41:1380:1086 . . . 0/1:-72.0417,0,-82.2719:69:35:34:1054:1181 +chr11 47367758 . C T 2186.79 . AB=0.520958;ABP=3.64744;AC=1;AF=0.5;AN=2;AO=87;CIGAR=1X;DP=167;DPB=167;DPRA=0;EPP=3.23494;EPPR=6.91895;GTI=0;LEN=1;MEANALT=1;MQM=41.7586;MQMR=42;NS=1;NUMALT=1;ODDS=458.226;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3247;QR=3050;RO=80;RPL=27;RPP=30.1911;RPPR=65.5487;RPR=60;RUN=1;SAF=55;SAP=16.2139;SAR=32;SF=20;SRF=48;SRP=9.95901;SRR=32;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon12:c.G1090A:p.A364T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs794727046;CLNALLELEID=461685;CLNDN=Hypertrophic_cardiomyopathy;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;SIFT_score=0.002;SIFT_converted_rankscore=0.721;SIFT_pred=D;Polyphen2_HDIV_score=0.92;Polyphen2_HDIV_rankscore=0.490;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.764;Polyphen2_HVAR_rankscore=0.548;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=1.895;MutationAssessor_score_rankscore=0.505;MutationAssessor_pred=L;FATHMM_score=0.23;FATHMM_converted_rankscore=0.599;FATHMM_pred=T;PROVEAN_score=-3.55;PROVEAN_converted_rankscore=0.687;PROVEAN_pred=D;VEST3_score=0.277;VEST3_rankscore=0.345;MetaSVM_score=-0.702;MetaSVM_rankscore=0.604;MetaSVM_pred=T;MetaLR_score=0.253;MetaLR_rankscore=0.623;MetaLR_pred=T;M-CAP_score=0.497;M-CAP_rankscore=0.951;M-CAP_pred=D;REVEL_score=0.451;REVEL_rankscore=0.754;MutPred_score=0.343;MutPred_rankscore=0.337;CADD_raw=5.140;CADD_raw_rankscore=0.693;CADD_phred=25.4;DANN_score=0.999;DANN_rankscore=0.979;fathmm-MKL_coding_score=0.965;fathmm-MKL_coding_rankscore=0.692;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.515;Eigen-PC-raw=0.519;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.446;integrated_fitCons_score=0.403;integrated_fitCons_score_rankscore=0.052;integrated_confidence_value=0;GERP++_RS=4.7;GERP++_RS_rankscore=0.586;phyloP100way_vertebrate=4.660;phyloP100way_vertebrate_rankscore=0.610;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.971;phastCons20way_mammalian_rankscore=0.463;SiPhy_29way_logOdds=13.667;SiPhy_29way_logOdds_rankscore=0.617;Interpro_domain=Immunoglobulin-like_domain|Immunoglobulin-like_fold;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.998;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.862357;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-229.256,0,-213.11:167:80:87:3247:3050:80,87 . . . . . . . . . . . . . . . . +chr11 47369443 . G A 6348.98 . AB=0.512456;ABP=3.76761;AC=10;AF=0.5;AN=18;AO=288;CIGAR=1X;DP=3764;DPB=562;DPRA=0;EPP=15.074;EPPR=3.1371;GTI=0;LEN=1;MEANALT=1;MQM=41.8403;MQMR=41.8686;NS=1;NUMALT=1;ODDS=1565.53;PAIRED=0.993056;PAIREDR=0.992701;PAO=0;PQA=0;PQR=0;PRO=0;QA=10561;QR=9851;RO=274;RPL=132;RPP=7.35324;RPPR=4.15151;RPR=156;RUN=1;SAF=140;SAP=3.49285;SAR=148;SF=5,6,11,12,23,24,28,30,36;SRF=144;SRP=4.56362;SRR=130;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-744.598,0,-687.685:562:274:288:10561:9851:274,288 0/1:-399.551,0,-422.87:321:166:155:5732:5968:166,155 . . . . 1/1:-1360.57,-131.55,0:437:0:437:15751:0 0/1:-880.949,0,-720.385:626:290:335:12384:10493:290,335 . . . . . . . . . . 0/1:-765.287,0,-655.493:549:258:291:10782:9437 0/1:-209.913,0,-222.637:169:86:82:3009:3139:86,82 . . . 0/1:-393.502,0,-321.258:291:135:156:5575:4686 . 0/1:-431.093,0,-457.953:351:180:171:6201:6469 . . . . . 0/1:-602.592,0,-559.463:458:224:234:8609:8011 +chr11 47370041 . T C 4856.56 . AB=0.494226;ABP=3.13567;AC=10;AF=0.5;AN=18;AO=214;CIGAR=1X;DP=2878;DPB=433;DPRA=0;EPP=3.65971;EPPR=3.25818;GTI=0;LEN=1;MEANALT=1;MQM=41.972;MQMR=41.8356;NS=1;NUMALT=1;ODDS=1258.94;PAIRED=0.985981;PAIREDR=0.995434;PAO=0;PQA=0;PQR=0;PRO=0;QA=7895;QR=8210;RO=219;RPL=115;RPP=5.60795;RPPR=3.49615;RPR=99;RUN=1;SAF=104;SAP=3.37559;SAR=110;SF=5,6,11,12,23,24,28,30,36;SRF=106;SRP=3.49615;SRR=113;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-554.33,0,-577.55:433:219:214:7895:8210:219,214 0/1:-345.562,0,-308.497:258:120:135:4893:4456:120,135 . . . . 1/1:-1178.06,-113.789,0:379:0:378:13620:0 0/1:-565.63,0,-511.585:420:197:221:7974:7374:197,221 . . . . . . . . . . 0/1:-479.502,0,-443.027:354:169:184:6770:6363 0/1:-269.232,0,-207.449:185:82:103:3735:3042:82,103 . . . 0/1:-272.597,0,-252.205:204:98:106:3853:3633 . 0/1:-407.47,0,-350.967:297:138:159:5738:5090 . . . . . 0/1:-370.811,0,-537.644:348:199:149:5486:7424 +chr11 47371475 . T G 4206.83 . AB=0.52071;ABP=4.2695;AC=2;AF=0.5;AN=4;AO=176;CIGAR=1X;DP=670;DPB=338;DPRA=0;EPP=12.6832;EPPR=12.0715;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9753;NS=1;NUMALT=1;ODDS=917.036;PAIRED=0.994318;PAIREDR=0.993827;PAO=0;PQA=0;PQR=0;PRO=0;QA=6352;QR=5994;RO=162;RPL=140;RPP=136.457;RPPR=106.812;RPR=36;RUN=1;SAF=76;SAP=10.1169;SAR=100;SF=4,5;SRF=69;SRP=10.7311;SRR=93;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=MYBPC3;GeneDetail.refGene=NM_000256:exon5:c.506-2A>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516057;CLNALLELEID=51935;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;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=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=4.578;CADD_raw_rankscore=0.613;CADD_phred=24.4;DANN_score=0.994;DANN_rankscore=0.648;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.953;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.943;Eigen-PC-raw=0.750;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.057;integrated_fitCons_score_rankscore=0.007;integrated_confidence_value=0;GERP++_RS=4.65;GERP++_RS_rankscore=0.575;phyloP100way_vertebrate=6.199;phyloP100way_vertebrate_rankscore=0.718;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.282;phastCons20way_mammalian_rankscore=0.234;SiPhy_29way_logOdds=14.354;SiPhy_29way_logOdds_rankscore=0.661;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.93;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.438848;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-450.464,0,-417.924:338:162:176:6352:5994 0/1:-440.127,0,-400.503:332:156:176:6239:5782:156,176 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47371484 . AGGGGCGA AGGGCGA 4998.69 . AB=0;ABP=0;AC=50;AF=1;AN=66;AO=104;CIGAR=1M1D1M;DP=8497;DPB=80.6667;DPRA=0;EPP=3.34437;EPPR=26.8965;GTI=0;LEN=1;MEANALT=1;MQM=41.9615;MQMR=42;NS=1;NUMALT=1;ODDS=78.1621;PAIRED=0;PAIREDR=0;PAO=0.5;PQA=0;PQR=0;PRO=0.5;QA=3655;QR=374;RO=11;RPL=89;RPP=117.347;RPPR=26.8965;RPR=15;RUN=1;SAF=41;SAP=13.116;SAR=63;SF=1,2,3,4,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,23,25,26,27,28,29,30,31,32,33,34,35,36;SRF=11;SRP=26.8965;SRR=0;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD . 1/1:.,.,0:115:11:104:3655:374 0/1:.,.,-13.9217:307:39:267:8849:1210 1/1:-661.545,-71.3441,0:226:0:223:7586:0:0,223 0/1:.,.,-491.794:327:190:137:4903:6794 . 0/1:-195.073,0,-203.937:171:81:88:2806:2922:81,88 1/1:.,.,0:398:33:358:11805:1105 1/1:.,.,0:254:24:227:7620:771 1/1:-619.625,-68.0328,0:216:0:212:7084:0:0,212 1/1:-661.568,-59.1097,0:239:4:232:7730:150:4,232 . 0/1:-392.818,0,-422.428:353:173:171:5761:6112:173,171 0/1:.,.,-0.384213:299:32:266:8840:1034 1/1:.,.,0:191:18:172:5917:620 1/1:.,.,0:297:31:264:8750:1025 0/1:-304.916,0,-303.688:265:123:136:4405:4389:123,136 1/1:.,.,0:312:27:284:9729:931 0/1:.,.,-1.59134:192:20:172:5663:674 1/1:.,.,0:305:29:274:9445:1019 1/1:-830.221,-87.2987,0:292:0:286:9517:0:0,286 1/1:-340.102,-37.0267,0:123:0:119:3885:0:0,119 1/1:.,.,0:104:6:97:3087:200 0/1:.,.,-442.002:323:175:148:5171:6178 . 1/1:-1104.6,-120.111,0:395:0:387:12653:0:0,387 0/1:.,.,-390.508:328:168:156:4831:5571 1/1:-828.508,-90.309,0:294:0:286:9473:0:0,286 0/1:.,.,-247.466:197:104:92:2787:3536 1/1:.,.,0:395:31:359:11659:1014 0/1:.,.,-338.214:253:137:116:3879:4768 0/1:.,.,-19.388:174:24:147:4717:812 1/1:.,.,0:278:23:254:8612:773 0/1:.,.,-327.017:236:131:105:3568:4548 0/1:.,.,-8.40779:210:26:183:6213:808 0/1:.,.,-180.753:132:70:62:2149:2521 0/1:.,.,-390.199:296:157:138:4651:5532 +chr11 47371578 . G A 1806.75 . AB=0.436364;ABP=8.81405;AC=3;AF=0.5;AN=6;AO=72;CIGAR=1X;DP=498;DPB=165;DPRA=0;EPP=15.074;EPPR=17.6035;GTI=0;LEN=1;MEANALT=1;MQM=41.9722;MQMR=41.8065;NS=1;NUMALT=1;ODDS=382.785;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2614;QR=3370;RO=93;RPL=46;RPP=15.074;RPPR=8.26386;RPR=26;RUN=1;SAF=22;SAP=26.6552;SAR=50;SF=19,23,29;SRF=36;SRP=13.3073;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-177.915,0,-241.546:165:93:72:2614:3370 . . . 0/1:-178.822,0,-172.104:140:68:71:2537:2470 . . . . . 0/1:-216.575,0,-247.684:193:100:93:3144:3533 . . . . . . . +chr11 47371598 . C T 1001.16 . AB=0.492857;ABP=3.07234;AC=4;AF=0.5;AN=8;AO=69;CIGAR=1X;DP=390;DPB=140;DPRA=0;EPP=10.0912;EPPR=19.1893;GTI=0;LEN=1;MEANALT=1;MQM=41.5072;MQMR=41.4366;NS=1;NUMALT=1;ODDS=379.466;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2517;QR=2589;RO=71;RPL=30;RPP=5.55942;RPPR=19.1893;RPR=39;RUN=1;SAF=24;SAP=16.8888;SAR=45;SF=13,15,21,22;SRF=28;SRP=9.89173;SRR=43;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-173.38,0,-179.959:140:71:69:2517:2589 . 0/1:-178.438,0,-210.046:153:80:73:2660:2971 . . . . . 0/1:-22.9761,0,-123.593:56:43:13:454:1623:43,13 0/1:-59.2276,0,-44.9405:41:18:23:821:659 . . . . . . . . . . . . . . +chr11 47371697 . T C 1338.38 . AB=0.523364;ABP=3.51765;AC=1;AF=0.5;AN=2;AO=56;CIGAR=1X;DP=107;DPB=107;DPRA=0;EPP=6.88793;EPPR=4.07475;GTI=0;LEN=1;MEANALT=1;MQM=41.9643;MQMR=40.6667;NS=1;NUMALT=1;ODDS=276.043;PAIRED=0.982143;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2036;QR=1909;RO=51;RPL=42;RPP=33.4109;RPPR=21.7871;RPR=14;RUN=1;SAF=19;SAP=15.5738;SAR=37;SF=4;SRF=19;SRP=10.206;SRR=32;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs762945458;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_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=6.483e-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=6.483e-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=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\x3d96.324893;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-144.682,0,-128.623:107:51:56:2036:1909 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 47372096 . C A 47.97 . AB=0.666667;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=7.35324;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=6.52278;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=70;QR=14;RO=1;RPL=1;RPP=3.0103;RPPR=5.18177;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=7;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYBPC3;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYBPC3:NM_000256:exon3:c.G363T:p.P121P;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\x3d99.738401;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . 0/1:-5.5938,0,-0.49625:3:1:2:70:14 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 74168411 . A G 6399.44 . AB=0.445255;ABP=20.8417;AC=11;AF=0.5;AN=22;AO=305;CIGAR=1X;DP=7117;DPB=685;DPRA=0;EPP=3.35916;EPPR=44.4058;GTI=0;LEN=1;MEANALT=2;MQM=40.3377;MQMR=41.1794;NS=1;NUMALT=1;ODDS=1431.78;PAIRED=0.960656;PAIREDR=0.957784;PAO=0;PQA=0;PQR=0;PRO=0;QA=9942;QR=13558;RO=379;RPL=118;RPP=36.9066;RPPR=89.6916;RPR=187;RUN=1;SAF=193;SAP=49.7219;SAR=112;SF=2,9,10,12,13,15,17,27,30,34,35;SRF=217;SRP=20.342;SRR=162;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-639.246,0,-958.264:685:379:305:9942:13558 . . . . . . 0/1:-589.239,0,-631.085:530:257:273:8726:9290:257,273 0/1:-575.902,0,-774.732:582:312:267:8953:11210:312,267 . 0/1:-986.62,0,-1216.52:934:481:449:14907:17488:481,449 0/1:-676.153,0,-922.255:703:371:329:10474:13415 . 0/1:-723.897,0,-1011.64:742:402:339:11112:14542 . 0/1:-774.415,0,-957.728:725:374:350:11607:13699 . . . . . . . . . 0/1:-777.734,0,-956.401:736:383:350:11598:13831:383,350 . . 0/1:-535.464,0,-770.643:557:304:253:8237:10928 . . . 0/1:-565.741,0,-800.527:592:315:275:8823:11381 0/1:-370.23,0,-416.674:331:167:164:5429:6029 . +chr11 111781047 . A C 7358.03 . AB=0.485714;ABP=3.38255;AC=22;AF=0.5;AN=40;AO=102;CIGAR=1X;DP=9884;DPB=210;DPRA=0;EPP=5.13919;EPPR=3.09072;GTI=0;LEN=1;MEANALT=1;MQM=41.6078;MQMR=42;NS=1;NUMALT=1;ODDS=591.461;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3815;QR=3890;RO=108;RPL=53;RPP=3.35092;RPPR=8.15749;RPR=49;RUN=1;SAF=67;SAP=24.8102;SAR=35;SF=1,5,6,8,11,15,16,17,18,20,21,22,23,25,26,29,30,33,34,35;SRF=65;SRP=12.7417;SRR=43;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-265.915,0,-274.179:210:108:102:3815:3890 . . . 0/1:-787.62,0,-960.395:666:361:305:11430:13424:361,305 0/1:-542.082,0,-598.775:442:231:211:7829:8469:231,211 . 0/1:-600.626,0,-592.68:464:227:236:8553:8474 . . 1/1:-1929.33,-160.268,0:630:10:619:22650:333 . . . 0/1:-689.202,0,-789.616:575:305:270:10008:11161 0/1:-771.096,0,-727.378:571:279:292:10955:10427:279,292 0/1:-769.12,0,-750.426:582:288:294:10946:10713 0/1:-392.244,0,-518.404:351:196:155:5754:7212 . 0/1:-861.447,0,-838.152:658:329:329:12250:11987:329,329 0/1:-274.584,0,-357.39:247:138:109:4034:4967:138,109 0/1:-324.533,0,-357.87:267:140:127:4708:5056 0/1:-707.234,0,-704.313:539:270:269:10065:10033 . 0/1:-875.122,0,-1058.37:757:406:349:12759:14856:406,349 0/1:-638.812,0,-679.505:531:270:260:9249:9695 . . 1/1:-2228.95,-208.08,0:720:3:715:25957:93 0/1:-621.604,0,-570.083:456:220:236:8767:8172 . . 0/1:-506.614,0,-552.652:410:212:198:7280:7801 0/1:-685.425,0,-641.222:507:247:259:9694:9190 0/1:-406.726,0,-375.687:301:146:154:5744:5379 . +chr11 111782284 . C T 3369.02 . AB=0.520661;ABP=4.35625;AC=2;AF=0.5;AN=4;AO=189;CIGAR=1X;DP=589;DPB=363;DPRA=0;EPP=3.02179;EPPR=6.63779;GTI=0;LEN=1;MEANALT=2;MQM=41.2328;MQMR=41.5376;NS=1;NUMALT=1;ODDS=948.391;PAIRED=0.978836;PAIREDR=0.99422;PAO=0;PQA=0;PQR=0;PRO=0;QA=6420;QR=6121;RO=173;RPL=74;RPP=22.3238;RPPR=3.02285;RPR=115;RUN=1;SAF=108;SAP=11.386;SAR=81;SF=29,33;SRF=96;SRP=7.54152;SRR=77;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-444.09,0,-419.879:363:173:189:6420:6121 . . . 0/1:-248.693,0,-304.113:226:121:105:3630:4280 . . . +chr11 118015832 . G A 7026.68 . AB=0.503676;ABP=3.07417;AC=2;AF=0.5;AN=4;AO=274;CIGAR=1X;DP=1101;DPB=544;DPRA=0;EPP=37.532;EPPR=50.8715;GTI=0;LEN=1;MEANALT=2;MQM=41.7774;MQMR=41.8662;NS=1;NUMALT=1;ODDS=1610.33;PAIRED=0.992701;PAIREDR=0.996283;PAO=0;PQA=0;PQR=0;PRO=0;QA=10117;QR=10192;RO=269;RPL=137;RPP=3.0103;RPPR=3.40585;RPR=137;RUN=1;SAF=133;SAP=3.51751;SAR=141;SF=5,20;SRF=136;SRP=3.08295;SRR=133;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-710.309,0,-714.919:544:269:274:10117:10192:269,274 . . . . . . . . . . . . . . 0/1:-721.016,0,-755.367:557:281:276:10344:10699:281,276 . . . . . . . . . . . . . . . . +chr11 118037813 . G T 5234.61 . AB=0;ABP=0;AC=35;AF=1;AN=58;AO=296;CIGAR=1X;DP=9729;DPB=298;DPRA=0;EPP=11.4908;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=404.187;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10815;QR=32;RO=2;RPL=216;RPP=138.698;RPPR=7.35324;RPR=80;RUN=1;SAF=81;SAP=134.737;SAR=215;SF=0,1,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,21,22,23,25,27,28,29,30,32,34,36;SRF=0;SRP=7.35324;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-933.932,-86.669,0:298:2:296:10815:32:2,296 0/1:-144.116,0,-202.358:133:75:58:2125:2802 . 0/1:-366.308,0,-533.944:353:202:150:5472:7434:202,150 0/1:-514.18,0,-504.507:398:196:200:7338:7213 0/1:-602.997,0,-584.555:456:224:231:8572:8363:224,231 0/1:-333.188,0,-350.646:268:135:133:4785:5022:135,133 1/1:-1303.5,-122.819,0:419:1:417:15141:33 0/1:-343.188,0,-440.118:301:164:136:5012:6158 0/1:-301.734,0,-399.38:274:151:123:4434:5578:151,123 . 0/1:-509.587,0,-604.963:455:241:214:7538:8569 0/1:-716.737,0,-594.469:500:230:270:10039:8635:230,270 1/1:-1112.19,-101.793,0:367:3:362:13010:92 0/1:-357.493,0,-337.549:266:132:134:5061:4821 0/1:-549.942,0,-453.628:396:183:213:7788:6701 0/1:-419.832,0,-515.327:355:190:165:6090:7206:190,165 0/1:-536.555,0,-463.34:383:180:203:7564:6694 0/1:-205.016,0,-295.392:197:111:86:3046:4094 1/1:-1142.19,-107.769,0:359:0:358:13261:0 . 0/1:-311.119,0,-47.2651:149:33:116:4108:1078:33,116 0/1:-178.867,0,-171.047:148:72:76:2586:2487 0/1:-540.442,0,-572.523:424:217:207:7746:8115 . 0/1:-608.611,0,-635.986:501:255:244:8775:9104:255,244 . 0/1:-466.148,0,-481.117:388:195:191:6714:6912:195,191 1/1:-780.241,-74.3623,0:253:1:252:9057:18 0/1:-538.287,0,-691.405:507:277:227:7998:9787 0/1:-396.013,0,-366.597:294:142:151:5597:5274 . 0/1:-363.064,0,-437.819:309:166:142:5265:6141 . 1/1:-709.021,-64.9287,0:221:1:220:8234:16 . 0/1:-549.886,0,-365.542:357:149:206:7659:5473 +chr11 118047045 . C T 1450.35 . AB=0.439716;ABP=7.46105;AC=1;AF=0.5;AN=2;AO=62;CIGAR=1X;DP=141;DPB=141;DPRA=0;EPP=4.27115;EPPR=6.42261;GTI=0;LEN=1;MEANALT=2;MQM=41.6613;MQMR=41.7662;NS=1;NUMALT=1;ODDS=333.955;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2364;QR=2871;RO=77;RPL=18;RPP=26.6864;RPPR=9.35551;RPR=44;RUN=1;SAF=52;SAP=64.7922;SAR=10;SF=16;SRF=64;SRP=76.3609;SRR=13;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN2B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200138080;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0029;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0011;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0064;AF=0.0013;AF_popmax=0.0024;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0013;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=0.0028;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0027037;Kaviar_AC=418;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000443860|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.708634;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-160.704,0,-206.248:141:77:62:2364:2871:77,62 . . . . . . . . . . . . . . . . . . . . +chr11 123504945 . G A 2755.49 . AB=0.45;ABP=8.65613;AC=1;AF=0.5;AN=2;AO=117;CIGAR=1X;DP=260;DPB=260;DPRA=0;EPP=3.02886;EPPR=13.3477;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=634.475;PAIRED=1;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=4316;QR=5258;RO=142;RPL=99;RPP=124.78;RPPR=143.942;RPR=18;RUN=1;SAF=56;SAP=3.47429;SAR=61;SF=11;SRF=73;SRP=3.25497;SRR=69;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN3B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72552152;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0011;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.139e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0020;AF=0.0008;AF_popmax=0.0013;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=0.0013;AF_fin=0;AF_asj=0;AF_oth=0.0009;non_topmed_AF_popmax=0.0013;non_neuro_AF_popmax=0.0015;non_cancer_AF_popmax=.;controls_AF_popmax=0.0015;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=Name\x3d97.729296;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-296.089,0,-376.711:260:142:117:4316:5258 . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 123504959 . C G 3839.19 . AB=0;ABP=0;AC=44;AF=1;AN=64;AO=79;CIGAR=1X;DP=6750;DPB=79;DPRA=0;EPP=3.03779;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.5063;MQMR=0;NS=1;NUMALT=1;ODDS=114.122;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2864;QR=0;RO=0;RPL=68;RPP=92.3155;RPPR=0;RPR=11;RUN=1;SAF=29;SAP=15.1321;SAR=50;SF=1,2,3,4,5,6,7,8,9,10,11,13,14,15,16,17,18,19,20,21,22,24,25,26,27,28,29,30,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD . 1/1:-246.97,-23.7814,0:79:0:79:2864:0 0/1:-286.07,0,-262.587:218:103:114:4037:3805 1/1:-630.905,-62.0122,0:207:0:206:7268:0:0,206 1/1:-913.508,-87.5997,0:291:0:291:10507:0 0/1:-410.027,0,-360.734:300:141:159:5746:5198:141,159 1/1:-571.135,-55.0945,0:188:1:187:6565:15:1,187 1/1:-1048.61,-102.35,0:340:0:340:12072:0 1/1:-597.946,-55.3857,0:189:1:187:6891:14 0/1:-267.533,0,-281.395:215:110:105:3818:4006:110,105 1/1:-757.727,-73.4513,0:244:0:244:8706:0:0,244 0/1:-306.183,0,-348.741:260:135:124:4411:4911 . 0/1:-324.363,0,-272.854:240:111:129:4565:3967 0/1:-224.37,0,-195.175:168:78:89:3149:2826 0/1:-424.418,0,-251.162:270:106:164:5835:3825 0/1:-315.623,0,-274.267:231:110:121:4426:3957:110,121 0/1:-315.911,0,-392.487:273:146:127:4576:5473 0/1:-174.978,0,-126.786:120:52:68:2419:1868 0/1:-267.573,0,-218.466:187:86:101:3724:3164 1/1:-824.83,-80.074,0:266:0:266:9490:0:0,266 0/1:-124.261,0,-110.879:92:44:48:1757:1590:44,48 0/1:-94.1452,0,-121.377:84:46:38:1367:1684 . 1/1:-255.615,-24.0824,0:80:0:80:2933:0:0,80 0/1:-307.465,0,-465.979:308:177:129:4592:6430:177,129 1/1:-790.29,-77.4705,0:262:1:261:9119:14 0/1:-287.719,0,-400.392:275:151:124:4307:5563:151,124 0/1:-223.705,0,-171.713:154:69:85:3101:2509 0/1:-345.668,0,-382.54:298:153:145:4997:5461 1/1:-643.784,-61.0056,0:208:1:206:7425:15 . . 0/1:-167.019,0,-237.77:162:90:70:2481:3295 0/1:-267.919,0,-290.317:223:115:108:3847:4159 0/1:-166.418,0,-83.6687:99:37:62:2252:1301 1/1:-685.292,-65.3235,0:219:0:217:7872:0 +chr11 123513161 . G A 4758.15 . AB=0.479532;ABP=3.63253;AC=10;AF=0.5;AN=18;AO=82;CIGAR=1X;DP=2931;DPB=171;DPRA=0;EPP=3.11623;EPPR=3.23494;GTI=0;LEN=1;MEANALT=3;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=459.183;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3104;QR=3221;RO=87;RPL=11;RPP=98.3432;RPPR=128.831;RPR=71;RUN=1;SAF=51;SAP=13.6028;SAR=31;SF=1,4,6,12,14,15,18,21,28;SRF=53;SRP=12.0207;SRR=34;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-217.383,0,-228.39:171:87:82:3104:3221 . . 0/1:-595.628,0,-766.192:520:287:233:8753:10644 . 0/1:-388.024,0,-317.349:270:123:147:5419:4597:123,147 . . . . . 0/1:-767.762,0,-604.443:532:242:288:10733:8869:242,288 . 0/1:-450.952,0,-409.812:330:159:171:6364:5895 1/1:-1496.8,-141.484,0:471:0:470:17388:0 . . 0/1:-276.113,0,-303.814:227:117:110:3976:4288 . . 0/1:-89.7351,0,-295.423:151:107:43:1558:3919:107,43 . . . . . . 0/1:-326.801,0,-316.063:259:126:131:4674:4530 . . . . . . . . +chr11 123524411 . G A 1860.21 . AB=0.547297;ABP=5.88603;AC=3;AF=0.5;AN=6;AO=81;CIGAR=1X;DP=444;DPB=148;DPRA=0;EPP=3.25157;EPPR=17.3031;GTI=0;LEN=1;MEANALT=1;MQM=41.7284;MQMR=42;NS=1;NUMALT=1;ODDS=378.427;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3001;QR=2530;RO=67;RPL=21;RPP=43.7857;RPPR=20.1552;RPR=60;RUN=1;SAF=46;SAP=6.2541;SAR=35;SF=2,9,36;SRF=39;SRP=6.93191;SRR=28;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-215.162,0,-174.399:148:67:81:3001:2530 . . . . . . 0/1:-168.035,0,-211.165:144:78:65:2441:2944:78,65 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-208.13,0,-182.231:152:71:81:2948:2634 +chr11 128781339 . T C 9230.77 . AB=0;ABP=0;AC=71;AF=1;AN=74;AO=307;CIGAR=1X;DP=11541;DPB=309;DPRA=0;EPP=14.9003;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9414;MQMR=0;NS=1;NUMALT=1;ODDS=430.198;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=11191;QR=0;RO=0;RPL=123;RPP=29.3297;RPPR=0;RPR=184;RUN=1;SAF=159;SAP=3.86616;SAR=148;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-970.267,-92.4162,0:309:0:307:11191:0:0,307 0/1:-145.815,0,-158.623:116:60:56:2083:2240 1/1:-1040.44,-100.544,0:337:0:334:12027:0 1/1:-1061.56,-99.7694,0:337:1:335:12302:16:1,335 1/1:-1090.69,-97.9048,0:354:3:349:12734:92 1/1:-1177.37,-112.585,0:374:0:374:13593:0:0,374 1/1:-844.263,-79.773,0:265:0:265:9736:0:0,265 1/1:-1383.81,-133.356,0:444:0:443:16032:0 1/1:-807.857,-76.1796,0:261:1:260:9342:24 1/1:-827.237,-78.5688,0:262:0:261:9595:0:0,261 1/1:-935.335,-89.1049,0:296:0:296:10850:0:0,296 1/1:-1295.16,-125.228,0:416:0:416:14941:0 1/1:-1399.67,-134.56,0:449:0:447:16154:0:0,447 1/1:-1005.5,-97.5337,0:324:0:324:11602:0 1/1:-846.582,-79.773,0:265:0:265:9764:0 1/1:-1142.41,-110.177,0:366:0:366:13211:0 1/1:-1052.33,-99.6409,0:333:0:331:12166:0:0,331 1/1:-1221.49,-114.9,0:387:1:386:14117:16 1/1:-617.234,-58.0988,0:193:0:193:7114:0 1/1:-1165.47,-110.779,0:368:0:368:13451:0 0/1:-439.996,0,-435.963:341:169:169:6245:6237:169,169 1/1:-474.519,-46.3586,0:154:0:154:5481:0:0,154 1/1:-503.997,-49.0679,0:163:0:163:5792:0 1/1:-1230.74,-115.596,0:386:0:384:14210:0 1/1:-593.277,-55.6906,0:185:0:185:6848:0:0,185 1/1:-1444.06,-139.377,0:463:0:463:16654:0:0,463 1/1:-1232.9,-118.097,0:410:2:405:14302:50 1/1:-1440,-131.924,0:462:2:459:16713:78:2,459 1/1:-797.443,-74.9507,0:260:1:256:9218:27 0/1:-563.484,0,-537.764:443:216:226:8050:7768 1/1:-910.285,-86.3956,0:287:0:287:10499:0 1/1:-775.017,-74.9565,0:249:0:249:8948:0 1/1:-981.822,-94.2224,0:314:0:313:11343:0 1/1:-840.794,-80.375,0:268:0:267:9691:0 1/1:-777.616,-73.7524,0:246:0:245:8983:0 1/1:-480.667,-45.1545,0:152:0:150:5546:0 1/1:-955.225,-90.9111,0:302:0:302:11041:0 +chr11 128781978 . T G 10029.54 . AB=0;ABP=0;AC=71;AF=1;AN=74;AO=326;CIGAR=1X;DP=12735;DPB=327;DPRA=0;EPP=45.6404;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.6534;MQMR=23;NS=1;NUMALT=1;ODDS=450.902;PAIRED=0.993865;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=12023;QR=15;RO=1;RPL=138;RPP=19.6627;RPPR=5.18177;RPR=188;RUN=1;SAF=175;SAP=6.84701;SAR=151;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1036.64,-96.9988,0:327:1:326:12023:15:1,326 0/1:-162.466,0,-204.478:142:76:66:2494:2872 1/1:-1063.86,-102.35,0:341:0:340:12574:0 1/1:-1084.37,-104.758,0:348:0:348:12789:0:0,348 1/1:-1384.76,-131.41,0:442:1:440:16178:15 1/1:-1375.27,-131.758,0:443:1:442:16172:16:1,442 1/1:-823.694,-77.9732,0:264:1:263:9647:15:1,263 1/1:-1438.37,-139.716,0:478:3:475:17362:46 1/1:-900.836,-85.8607,0:290:1:289:10694:15 1/1:-929.369,-90.309,0:300:0:300:10963:0:0,300 1/1:-1115.44,-105.662,0:353:0:351:13109:0:0,351 1/1:-1451.49,-140.798,0:474:2:471:17032:48 1/1:-1473.79,-139.984,0:480:2:478:17667:48:2,478 1/1:-1255.9,-120.518,0:405:1:404:14748:14 1/1:-960.688,-91.8206,0:310:1:309:11324:15 1/1:-1031.27,-100.913,0:345:2:343:12478:31 1/1:-993.536,-93.5745,0:320:2:318:11715:30:2,318 1/1:-1228.26,-117.107,0:394:1:393:14492:15 1/1:-654.997,-65.3235,0:217:0:217:7796:0 1/1:-1058.24,-100.845,0:335:0:335:12354:0 0/1:-493.923,0,-415.145:356:169:187:7014:6174:169,187 1/1:-698.302,-66.8287,0:222:0:222:8109:0:0,222 1/1:-663.452,-64.4204,0:215:0:214:7761:0 1/1:-1228.29,-117.101,0:390:0:389:14394:0 1/1:-561.301,-54.7875,0:182:0:182:6677:0:0,182 1/1:-1852.33,-178.193,0:604:2:602:21733:46:2,602 1/1:-1414.14,-139.979,0:466:0:465:16633:0 1/1:-1476.65,-141.747,0:484:1:481:17531:39:1,481 1/1:-783.752,-76.7627,0:255:0:255:9365:0 0/1:-694.107,0,-694.696:554:272:280:10182:10051 1/1:-830.796,-80.375,0:268:0:267:9750:0 1/1:-879.934,-84.2884,0:280:0:280:10280:0 1/1:-1036.44,-99.942,0:332:0:332:12161:0 1/1:-933.362,-86.3618,0:299:1:298:10946:39 1/1:-920.929,-86.1263,0:298:1:297:10990:37 1/1:-548.281,-51.4761,0:171:0:171:6407:0 1/1:-1070.29,-102.872,0:351:2:349:12767:30 +chr11 128782002 . T C 11581.50 . AB=0;ABP=0;AC=71;AF=1;AN=74;AO=388;CIGAR=1X;DP=14432;DPB=391;DPRA=0;EPP=46.3502;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.6753;MQMR=23;NS=1;NUMALT=1;ODDS=535.369;PAIRED=0.994845;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14653;QR=37;RO=1;RPL=152;RPP=42.4998;RPPR=5.18177;RPR=236;RUN=1;SAF=182;SAP=6.23393;SAR=206;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1257.94,-115.094,0:391:1:388:14653:37:1,388 0/1:-183.652,0,-233.858:159:86:73:2798:3275 1/1:-1204.52,-114.993,0:382:0:382:14243:0 1/1:-1202.98,-113.488,0:378:0:377:14279:0:0,377 1/1:-1588.2,-149.311,0:496:0:496:18645:0 1/1:-1503.56,-142.67,0:480:1:478:17770:17:1,478 1/1:-936.703,-87.9008,0:292:0:292:10964:0:0,292 1/1:-1619.65,-157.138,0:522:0:522:19335:0 1/1:-1018.94,-94.8788,0:325:1:323:12111:29 1/1:-1094.04,-103.554,0:344:0:344:12888:0:0,344 1/1:-1319.57,-124.325,0:413:0:413:15514:0:0,413 1/1:-1704.41,-162.556,0:541:0:540:19981:0 1/1:-1662.62,-160.449,0:533:0:533:19950:0:0,533 1/1:-1510.08,-142.688,0:474:0:474:17715:0 1/1:-1049,-99.3399,0:331:0:330:12371:0 1/1:-1189,-115.897,0:385:0:385:14309:0 1/1:-1239.71,-115.048,0:392:1:390:14645:29:1,390 1/1:-1426.61,-135.464,0:451:0:450:16822:0 1/1:-750.202,-71.9462,0:239:0:239:8929:0 1/1:-1236.17,-116.499,0:387:0:387:14559:0 0/1:-600.88,0,-497.907:424:198:226:8506:7365:198,226 1/1:-763.143,-72.2472,0:241:0:240:8923:0:0,240 1/1:-789.299,-74.9565,0:249:0:249:9201:0 1/1:-1438.95,-135.464,0:451:0:450:16930:0 1/1:-662.636,-62.9153,0:211:0:209:7903:0:0,209 1/1:-2124.53,-202.593,0:673:0:673:25001:0:0,673 1/1:-1665.53,-159.703,0:533:1:532:19543:16 1/1:-1776.5,-170.289,0:571:1:570:21151:16:1,570 1/1:-880.265,-85.4925,0:284:0:284:10483:0 0/1:-748,0,-816.581:619:316:301:11068:11672 1/1:-972.073,-92.4162,0:310:0:307:11462:0 1/1:-1009.83,-94.8245,0:317:0:315:11821:0 1/1:-1180.99,-110.715,0:372:1:371:13931:13 1/1:-1047.48,-96.3036,0:333:1:330:12371:39 1/1:-1074.44,-98.4685,0:339:1:338:12804:37 1/1:-662.407,-62.0122,0:206:0:206:7743:0 1/1:-1196.05,-114.09,0:384:0:379:14272:0 +chr11 128782012 . C G 12007.32 . AB=0;ABP=0;AC=73;AF=1;AN=74;AO=387;CIGAR=1X;DP=14496;DPB=388;DPRA=0;EPP=34.5724;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.7235;MQMR=0;NS=1;NUMALT=1;ODDS=541.101;PAIRED=0.994832;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=14468;QR=0;RO=0;RPL=169;RPP=16.4824;RPPR=0;RPR=218;RUN=1;SAF=175;SAP=10.6918;SAR=212;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1248.31,-116.499,0:388:0:387:14468:0:0,387 1/1:-530.556,-49.67,0:165:0:165:6237:0 1/1:-1187.59,-114.09,0:380:0:379:13995:0 1/1:-1190.18,-112.585,0:374:0:374:14073:0:0,374 1/1:-1548.97,-146.602,0:487:0:487:18141:0 1/1:-1519.03,-145.096,0:482:0:482:17892:0:0,482 1/1:-897.706,-85.1915,0:284:0:283:10504:0:0,283 1/1:-1606.39,-157.138,0:522:0:522:19204:0 1/1:-1042.09,-100.243,0:334:0:333:12342:0 1/1:-1067.94,-101.748,0:338:0:338:12541:0:0,338 1/1:-1294.22,-122.82,0:408:0:408:15218:0:0,408 1/1:-1696.92,-163.459,0:544:0:543:19853:0 1/1:-1664.28,-159.785,0:539:1:537:19895:35:1,537 1/1:-1505.18,-142.086,0:472:0:472:17620:0 1/1:-1059.91,-102.35,0:340:0:340:12456:0 1/1:-1187.71,-116.499,0:388:0:387:14216:0 1/1:-1240.69,-116.104,0:391:1:390:14577:16:1,390 1/1:-1418.29,-135.162,0:449:0:449:16729:0 1/1:-746.116,-71.6451,0:238:0:238:8832:0 1/1:-1264.73,-119.81,0:398:0:398:14851:0 0/1:-608.216,0,-556.217:445:215:230:8639:8107:215,230 1/1:-764.646,-72.5482,0:241:0:241:8900:0:0,241 1/1:-790.264,-75.8596,0:252:0:252:9232:0 1/1:-1435.89,-134.861,0:448:0:448:16861:0 1/1:-685.373,-65.6245,0:218:0:218:8123:0:0,218 1/1:-2112.3,-202.894,0:674:0:674:24797:0:0,674 1/1:-1615.54,-156.837,0:521:0:521:18920:0 1/1:-1739.55,-170.383,0:567:0:566:20629:0:0,566 1/1:-894.914,-87.9008,0:292:0:292:10612:0 1/1:-1948.19,-187.241,0:622:0:622:22906:0 1/1:-1014.71,-96.6306,0:321:0:321:11908:0 1/1:-1041.91,-98.4368,0:327:0:327:12162:0 1/1:-1176.09,-111.682,0:371:0:371:13821:0 1/1:-1076.82,-102.35,0:340:0:340:12658:0 1/1:-1066.34,-99.3716,0:342:1:341:12633:37 1/1:-660.228,-62.0122,0:206:0:206:7698:0 1/1:-1206.83,-116.8,0:388:0:388:14286:0 +chr11 128782112 . C T 4857.95 . AB=0.526171;ABP=5.16981;AC=1;AF=0.5;AN=2;AO=191;CIGAR=1X;DP=363;DPB=363;DPRA=0;EPP=11.2983;EPPR=3.0608;GTI=0;LEN=1;MEANALT=1;MQM=41.7644;MQMR=41.8605;NS=1;NUMALT=1;ODDS=952.539;PAIRED=0.994764;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7043;QR=6226;RO=172;RPL=120;RPP=30.3072;RPPR=61.3876;RPR=71;RUN=1;SAF=74;SAP=24.0315;SAR=117;SF=5;SRF=55;SRP=51.5402;SRR=117;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-498.789,0,-431.828:363:172:191:7043:6226:172,191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr11 128786294 . G A 2966.77 . AB=0;ABP=0;AC=66;AF=1;AN=74;AO=162;CIGAR=1X;DP=4281;DPB=163;DPRA=0;EPP=20.3821;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.4198;MQMR=42;NS=1;NUMALT=1;ODDS=223.875;PAIRED=0.993827;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5995;QR=16;RO=1;RPL=42;RPP=84.5612;RPPR=5.18177;RPR=120;RUN=1;SAF=105;SAP=33.8935;SAR=57;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-510.765,-47.469,0:163:1:162:5995:16:1,162 0/1:-36.6546,0,-48.8553:33:18:15:535:674 1/1:-323.869,-30.711,0:107:1:106:3768:15 0/1:-142.757,0,-116.983:102:47:55:2007:1712:47,55 0/1:-148.586,0,-247.164:156:92:64:2348:3408 1/1:-323.212,-25.2667,0:107:2:105:3892:76:2,105 0/1:-195.659,0,-103.609:120:44:76:2720:1612:44,76 1/1:-468.53,-45.1545,0:150:0:150:5456:0 1/1:-365.069,-35.2205,0:120:0:117:4223:0 1/1:-362.519,-33.7154,0:113:0:112:4206:0:0,112 1/1:-303.44,-29.1999,0:97:0:97:3566:0:0,97 1/1:-509.991,-49.3689,0:165:0:164:5931:0 1/1:-361.468,-35.5215,0:118:0:118:4312:0:0,118 1/1:-462.055,-45.7001,0:156:1:155:5460:13 1/1:-306.464,-29.802,0:100:0:99:3600:0 1/1:-332,-32.2102,0:107:0:107:3927:0 1/1:-440.8,-40.5453,0:140:1:139:5163:16:1,139 1/1:-376.745,-36.4246,0:121:0:121:4423:0 1/1:-244.262,-23.4803,0:78:0:78:2855:0 1/1:-346.346,-32.8123,0:110:0:109:4073:0 0/1:-160.826,0,-191.131:140:75:64:2405:2706:75,64 1/1:-196.227,-19.2659,0:64:0:64:2255:0:0,64 1/1:-244.575,-23.7814,0:79:0:79:2828:0 1/1:-377.999,-36.1236,0:120:0:120:4397:0 1/1:-181.354,-17.7608,0:59:0:59:2148:0:0,59 1/1:-571.911,-56.2926,0:188:0:187:6795:0:0,187 1/1:-542.66,-53.2823,0:177:0:177:6434:0 1/1:-537.477,-46.989,0:178:2:174:6343:67:2,174 1/1:-221.31,-20.7711,0:69:0:69:2557:0 0/1:-259.34,0,-229.735:203:95:107:3868:3443 1/1:-262.783,-24.6845,0:82:0:82:3071:0 1/1:-328.862,-32.2102,0:107:0:107:3871:0 1/1:-316.177,-31.0061,0:103:0:103:3682:0 1/1:-337.998,-33.1133,0:110:0:110:3989:0 0/1:-77.3789,0,-144.422:90:57:32:1206:2069 1/1:-139.839,-14.1484,0:47:0:47:1692:0 0/1:-122.094,0,-129.61:102:52:47:1784:1858 +chr12 2224511 . C T 3355.30 . AB=0.517685;ABP=3.85515;AC=2;AF=0.5;AN=4;AO=161;CIGAR=1X;DP=545;DPB=311;DPRA=0;EPP=5.28967;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=41.1553;MQMR=41.5878;NS=1;NUMALT=1;ODDS=750.246;PAIRED=0.993789;PAIREDR=0.993243;PAO=0;PQA=0;PQR=0;PRO=0;QA=5586;QR=5081;RO=148;RPL=22;RPP=187.639;RPPR=138.228;RPR=139;RUN=1;SAF=92;SAP=10.1451;SAR=69;SF=20,36;SRF=96;SRP=31.4155;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-389.542,0,-350.266:311:148:161:5586:5081:148,161 . . . . . . . . . . . . . . . 0/1:-331.423,0,-220.203:234:97:136:4654:3328 +chr12 2229476 . G A 864.38 . AB=0.402778;ABP=8.92153;AC=2;AF=0.5;AN=4;AO=29;CIGAR=1X;DP=165;DPB=72;DPRA=0;EPP=6.67934;EPPR=7.10075;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.5349;NS=1;NUMALT=1;ODDS=145.175;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1068;QR=1616;RO=43;RPL=8;RPP=15.6647;RPPR=9.12072;RPR=21;RUN=1;SAF=17;SAP=4.88226;SAR=12;SF=20,36;SRF=25;SRP=5.48477;SRR=18;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-70.9661,0,-117.107:72:43:29:1068:1616:43,29 . . . . . . . . . . . . . . . 0/1:-120.813,0,-126.325:93:48:45:1719:1778 +chr12 2558186 . G A 2816.43 . AB=0.517045;ABP=3.45446;AC=21;AF=0.5;AN=36;AO=91;CIGAR=1X;DP=3111;DPB=176;DPRA=0;EPP=9.90651;EPPR=3.64897;GTI=0;LEN=1;MEANALT=1;MQM=41.7363;MQMR=42;NS=1;NUMALT=1;ODDS=475.634;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3467;QR=3088;RO=85;RPL=54;RPP=9.90651;RPPR=6.10145;RPR=37;RUN=1;SAF=33;SAP=17.9243;SAR=58;SF=4,5,10,12,16,17,18,20,24,26,27,29,31,32,33,34,35,36;SRF=28;SRP=24.4951;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-244.926,0,-215.558:176:85:91:3467:3088 0/1:-234.755,0,-222.696:180:89:90:3364:3185:89,90 . . . . 1/1:-573.551,-53.5833,0:179:0:178:6650:0:0,178 . 0/1:-309.949,0,-307.175:238:120:118:4419:4364:120,118 . . . 0/1:-228.36,0,-230.879:176:90:85:3260:3260:90,85 1/1:-663.288,-61.7112,0:207:0:205:7687:0 0/1:-125.779,0,-94.2217:86:39:47:1767:1372 . 0/1:-258.666,0,-210.671:186:85:100:3679:3060:85,100 . . . 0/1:-114.84,0,-80.5353:74:32:42:1584:1178:32,42 . 0/1:-322.217,0,-230.891:220:96:124:4539:3402 0/1:-376.018,0,-276.93:262:116:145:5252:4111:116,145 . 0/1:-326.365,0,-402.416:289:158:131:4821:5639 . 0/1:-216.478,0,-182.116:155:72:82:3053:2624 0/1:-189.707,0,-175.648:140:69:71:2685:2500 0/1:-173.762,0,-172.486:133:66:67:2484:2443 0/1:-236.163,0,-164.335:154:66:88:3274:2420 0/1:-97.4559,0,-137.052:89:51:38:1436:1882 1/1:-535.226,-50.272,0:167:0:167:6225:0 +chr12 2558298 . GTT ATC 2248.76 . AB=0.45098;ABP=6.20364;AC=22;AF=0.5;AN=36;AO=69;CIGAR=1X1M1X;DP=2587;DPB=153;DPRA=0;EPP=4.55236;EPPR=19.3617;GTI=0;LEN=3;MEANALT=2;MQM=41.913;MQMR=42;NS=1;NUMALT=1;ODDS=351.651;PAIRED=0.985507;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2457;QR=3145;RO=83;RPL=58;RPP=72.5289;RPPR=82.1513;RPR=11;RUN=1;SAF=27;SAP=10.0912;SAR=42;SF=4,5,10,12,16,17,18,20,24,26,27,29,31,32,33,34,35,36;SRF=44;SRP=3.66436;SRR=39;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs386759537;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.009159;Kaviar_AC=1416;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-167.592,0,-226.033:153:83:69:2457:3145 0/1:-223.61,0,-175.514:154:70:83:3015:2567:70,83 . . . . 1/1:-431.449,-40.9401,0:132:0:131:4831:0:0,131 . 0/1:-292.804,0,-243.239:206:94:110:3996:3534:94,110 . . . 1/1:-494.887,-46.6597,0:154:0:149:5494:0:0,149 1/1:-445.134,-43.0473,0:139:0:138:4947:0 0/1:-101.223,0,-161.668:98:59:39:1435:2212 . 0/1:-211.102,0,-197.632:157:75:82:2971:2848:75,82 . . . 0/1:-133.23,0,-77.7401:80:32:48:1740:1177:32,48 . 0/1:-186.077,0,-254.658:174:95:79:2632:3519 0/1:-318.982,0,-229.056:222:95:123:4374:3430:95,123 . 0/1:-276.14,0,-297.536:227:116:110:3785:4260 . 0/1:-147.852,0,-176.337:127:67:56:1995:2472 0/1:-162.467,0,-167.071:126:63:62:2278:2369 0/1:-68.6518,0,-160.079:89:58:31:1057:2158 0/1:-156.663,0,-153.851:121:59:62:2167:2201 0/1:-122.496,0,-138.036:99:53:46:1683:1938 1/1:-403.153,-39.1339,0:129:0:128:4577:0 +chr12 2595358 . C T 4817.79 . AB=0.460993;ABP=8.60069;AC=1;AF=0.5;AN=2;AO=195;CIGAR=1X;DP=423;DPB=423;DPRA=0;EPP=15.1371;EPPR=42.0206;GTI=0;LEN=1;MEANALT=1;MQM=41.6359;MQMR=41.8026;NS=1;NUMALT=1;ODDS=1109.34;PAIRED=0.989744;PAIREDR=0.986842;PAO=0;PQA=0;PQR=0;PRO=0;QA=7194;QR=8454;RO=228;RPL=105;RPP=5.51585;RPPR=4.877;RPR=90;RUN=1;SAF=106;SAP=6.22853;SAR=89;SF=12;SRF=119;SRP=3.9627;SRR=109;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129827:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129829:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129830:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129831:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129832:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129833:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129834:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129835:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129836:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129837:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129838:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129839:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129840:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129841:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129842:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129843:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129844:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001129846:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001167623:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001167624:exon6:c.C846T:p.Y282Y,CACNA1C:NM_001167625:exon6:c.C846T:p.Y282Y,CACNA1C:NM_199460:exon6:c.C846T:p.Y282Y;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200847105;CLNALLELEID=140315;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|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=0.0003;ExAC_nontcga_AFR=0.0002;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=0.0004;AF=0.0004;AF_popmax=0.0006;AF_male=0.0003;AF_female=0.0004;AF_raw=0.0004;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0006;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0007;non_neuro_AF_popmax=0.0006;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;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\x3d99.358928;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-491.262,0,-603.829:423:228:195:7194:8454:228,195 . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2613589 . T G 2817.20 . AB=0.454902;ABP=7.51504;AC=1;AF=0.5;AN=2;AO=116;CIGAR=1X;DP=255;DPB=255;DPRA=0;EPP=15.6647;EPPR=23.4033;GTI=0;LEN=1;MEANALT=2;MQM=41.9828;MQMR=42;NS=1;NUMALT=1;ODDS=648.684;PAIRED=1;PAIREDR=0.992754;PAO=0;PQA=0;PQR=0;PRO=0;QA=4293;QR=5050;RO=138;RPL=35;RPP=42.621;RPPR=30.7674;RPR=81;RUN=1;SAF=76;SAP=27.2709;SAR=40;SF=4;SRF=87;SRP=23.4033;SRR=51;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;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\x3d99.723598;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-296.572,0,-360.662:255:138:116:4293:5050 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2613716 . C T 6160.80 . AB=0.5;ABP=3.0103;AC=11;AF=0.5;AN=18;AO=152;CIGAR=1X;DP=3271;DPB=304;DPRA=0;EPP=6.66752;EPPR=5.44062;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=860.437;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5768;QR=5621;RO=151;RPL=116;RPP=94.4407;RPPR=132.795;RPR=36;RUN=1;SAF=64;SAP=11.239;SAR=88;SF=0,4,8,12,13,14,23,27,31;SRF=62;SRP=13.4938;SRR=89;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-406.658,0,-395.776:304:151:152:5768:5621:151,152 . . . 0/1:-604.905,0,-500.337:428:198:229:8572:7262 . . . 0/1:-387.813,0,-351.129:287:136:150:5485:5048 . . . 1/1:-1621.47,-150.515,0:500:0:500:18773:0:0,500 0/1:-576.749,0,-484.529:422:197:224:8153:7082 1/1:-848.943,-79.773,0:265:0:265:9837:0 . . . . . . . . 0/1:-478.235,0,-442.376:357:173:183:6796:6339 . . . 0/1:-528.655,0,-545.919:429:214:212:7593:7790:214,212 . . . 0/1:-348.475,0,-370.013:279:145:134:5002:5243 . . . . . +chr12 2614070 . G T 3502.66 . AB=0.566265;ABP=12.5072;AC=1;AF=0.5;AN=2;AO=141;CIGAR=1X;DP=249;DPB=249;DPRA=0;EPP=4.25774;EPPR=4.2971;GTI=0;LEN=1;MEANALT=1;MQM=41.8582;MQMR=42;NS=1;NUMALT=1;ODDS=608.165;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5009;QR=4029;RO=108;RPL=74;RPP=3.76493;RPPR=4.2971;RPR=67;RUN=1;SAF=87;SAP=19.7815;SAR=54;SF=31;SRF=68;SRP=18.7736;SRR=40;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-359.911,0,-273.55:249:108:141:5009:4029 . . . . . +chr12 2659082 . G T 4409.23 . AB=0.480769;ABP=4.01252;AC=23;AF=0.5;AN=40;AO=150;CIGAR=1X;DP=5964;DPB=312;DPRA=0;EPP=7.70068;EPPR=18.5055;GTI=0;LEN=1;MEANALT=1;MQM=41.3867;MQMR=41.9877;NS=1;NUMALT=1;ODDS=838.379;PAIRED=0.993333;PAIREDR=0.993827;PAO=0;PQA=0;PQR=0;PRO=0;QA=5607;QR=5999;RO=162;RPL=32;RPP=110.078;RPPR=48.1019;RPR=118;RUN=1;SAF=96;SAP=28.5468;SAR=54;SF=3,4,6,7,8,10,11,16,17,20,21,23,24,25,26,27,29,30,33,34;SRF=94;SRP=12.0715;SRR=68;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-385.448,0,-424.679:312:162:150:5607:5999:162,150 0/1:-504.356,0,-505.718:389:192:197:7206:7232 . 0/1:-225.155,0,-285.609:195:107:88:3285:3994:107,88 1/1:-1404.42,-132.754,0:441:0:441:16372:0 0/1:-445.997,0,-240.625:261:99:162:6139:3694 . 1/1:-832.422,-77.0637,0:256:0:256:9647:0:0,256 0/1:-315.308,0,-430.554:297:167:130:4685:5997 . . . . 0/1:-369.085,0,-399.064:293:150:143:5332:5659:150,143 0/1:-437.526,0,-461.226:350:179:171:6299:6552 . . 0/1:-459.619,0,-470.715:358:179:178:6628:6695:179,178 0/1:-66.3402,0,-246.041:127:93:34:1204:3273:93,34 . 0/1:-356.199,0,-469.547:315:176:139:5234:6530 0/1:-153.562,0,-161.722:117:60:57:2183:2273:60,57 0/1:-465.453,0,-525.727:388:202:184:6773:7465:202,184 0/1:-430.736,0,-436.497:354:178:173:6253:6272 0/1:-421.106,0,-462.34:350:178:171:6143:6567:178,171 . 0/1:-389.836,0,-609.118:397:227:167:5922:8412 1/1:-819.449,-77.0637,0:256:0:256:9484:0 . . 0/1:-299.833,0,-337.073:247:128:119:4335:4766 0/1:-381.719,0,-293.381:261:116:145:5363:4311 . . +chr12 2694638 . C T 999.79 . AB=0;ABP=0;AC=9;AF=1;AN=16;AO=100;CIGAR=1X;DP=635;DPB=101;DPRA=0;EPP=10.0459;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.05;MQMR=0;NS=1;NUMALT=1;ODDS=143.235;PAIRED=0.94;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3336;QR=0;RO=0;RPL=54;RPP=4.40004;RPPR=0;RPR=46;RUN=1;SAF=35;SAP=22.5536;SAR=65;SF=4,7,14,16,17,25,32,34;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 1/1:-284.679,-30.103,0:101:0:100:3336:0 . . 0/1:-107.478,0,-90.7889:85:39:44:1549:1328 . . . . . . 0/1:-67.2837,0,-110.88:76:46:30:1032:1529 . 0/1:-82.3395,0,-105.689:82:44:37:1241:1492:44,37 0/1:-108.29,0,-70.2251:79:34:42:1512:1068 . . . . . . . 0/1:-100.252,0,-98.0582:93:45:45:1462:1430:45,45 . . . . . . 0/1:-41.6888,0,-89.288:60:37:23:682:1230 . 0/1:-69.6602,0,-64.1514:59:29:29:1011:937 . . +chr12 2706687 . C T 2145.16 . AB=0.541935;ABP=5.37791;AC=1;AF=0.5;AN=2;AO=84;CIGAR=1X;DP=155;DPB=155;DPRA=0;EPP=3.42391;EPPR=5.48761;GTI=0;LEN=1;MEANALT=1;MQM=41.75;MQMR=41.662;NS=1;NUMALT=1;ODDS=408.678;PAIRED=0.988095;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3121;QR=2680;RO=71;RPL=51;RPP=11.386;RPPR=4.50892;RPR=33;RUN=1;SAF=45;SAP=3.94093;SAR=39;SF=8;SRF=39;SRP=4.50892;SRR=32;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;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\x3d97.174326;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-222.097,0,-184.532:155:71:84:3121:2680 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2706720 . G C 4598.91 . AB=0;ABP=0;AC=73;AF=1;AN=74;AO=150;CIGAR=1X;DP=5557;DPB=150;DPRA=0;EPP=82.2835;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.88;MQMR=0;NS=1;NUMALT=1;ODDS=212.549;PAIRED=0.993333;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5656;QR=0;RO=0;RPL=94;RPP=23.9143;RPPR=0;RPR=56;RUN=1;SAF=62;SAP=12.7964;SAR=88;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-488.659,-45.1545,0:150:0:150:5656:0:0,150 0/1:-63.297,0,-85.709:57:32:24:929:1182 1/1:-378.409,-34.9195,0:116:0:116:4392:0 1/1:-472.438,-43.6494,0:145:0:145:5468:0:0,145 1/1:-502.688,-47.2617,0:159:0:157:5817:0 1/1:-495.317,-46.6597,0:155:0:155:5732:0:0,155 1/1:-383.892,-35.8226,0:119:0:119:4440:0:0,119 1/1:-483.961,-46.6597,0:155:0:155:5592:0 1/1:-388.945,-36.1236,0:120:0:120:4501:0 1/1:-401.127,-37.3277,0:124:0:124:4651:0:0,124 1/1:-411.419,-38.5318,0:128:0:128:4777:0:0,128 1/1:-749.871,-71.9462,0:239:0:239:8676:0 1/1:-622.421,-57.4967,0:191:0:191:7219:0:0,191 1/1:-817.716,-77.0637,0:256:0:256:9466:0 1/1:-349.962,-32.8123,0:109:0:109:4062:0 1/1:-452.994,-42.0504,0:145:1:144:5259:16 1/1:-449.187,-42.1442,0:140:0:140:5220:0:0,140 1/1:-512.484,-48.4658,0:162:0:161:5927:0 1/1:-405.172,-37.9298,0:126:0:126:4690:0 1/1:-420.942,-40.338,0:136:0:134:4863:0 1/1:-527.012,-48.7669,0:162:0:162:6099:0:0,162 1/1:-338.677,-32.2102,0:108:0:107:3913:0:0,107 1/1:-352.229,-33.7154,0:113:0:112:4067:0 1/1:-399.983,-37.3277,0:124:0:124:4624:0 1/1:-171.494,-15.6536,0:52:0:52:1982:0:0,52 1/1:-872.619,-82.1812,0:273:0:273:10097:0:0,273 1/1:-731.066,-69.839,0:234:0:232:8478:0 1/1:-806.944,-76.7627,0:256:0:255:9346:0:0,255 1/1:-418.807,-40.338,0:134:0:134:4855:0 1/1:-728.835,-69.5379,0:231:0:231:8433:0 1/1:-502.702,-46.9607,0:156:0:156:5811:0 1/1:-496.061,-46.6597,0:156:0:155:5762:0 1/1:-520.711,-48.4658,0:161:0:161:6020:0 1/1:-430.328,-38.5378,0:133:1:132:4992:15 1/1:-370.854,-34.3174,0:114:0:114:4305:0 1/1:-326.366,-29.802,0:99:0:99:3775:0 1/1:-380.508,-35.8226,0:119:0:119:4440:0 +chr12 2715862 . G A 2769.83 . AB=0.497797;ABP=3.01987;AC=1;AF=0.5;AN=2;AO=113;CIGAR=1X;DP=227;DPB=227;DPRA=0;EPP=17.0192;EPPR=17.0192;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=637.778;PAIRED=0.99115;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4084;QR=4102;RO=113;RPL=75;RPP=29.3178;RPPR=9.94748;RPR=38;RUN=1;SAF=56;SAP=3.02952;SAR=57;SF=24;SRF=59;SRP=3.49071;SRR=54;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs747949040;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.637e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.151e-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=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-286.741,0,-289.224:227:113:113:4084:4102:113,113 . . . . . . . . . . . . +chr12 2721131 . C A 4949.76 . AB=0.476744;ABP=5.03027;AC=1;AF=0.5;AN=2;AO=205;CIGAR=1X;DP=430;DPB=430;DPRA=0;EPP=3.27511;EPPR=9.09627;GTI=0;LEN=1;MEANALT=3;MQM=41.8;MQMR=41.6099;NS=1;NUMALT=1;ODDS=1139.73;PAIRED=0.995122;PAIREDR=0.991031;PAO=0;PQA=0;PQR=0;PRO=0;QA=7297;QR=8019;RO=223;RPL=105;RPP=3.27511;RPPR=3.25374;RPR=100;RUN=1;SAF=109;SAP=4.80044;SAR=96;SF=11;SRF=110;SRP=3.09794;SRR=113;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CACNA1C:NM_000719:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129829:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129830:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129831:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129833:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129834:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129835:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129836:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129837:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129838:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129839:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129840:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129841:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129842:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129843:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129844:exon29:c.C3771A:p.G1257G,CACNA1C:NM_001129846:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167623:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167624:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001167625:exon29:c.C3780A:p.G1260G,CACNA1C:NM_001129827:exon30:c.C3840A:p.G1280G,CACNA1C:NM_001129832:exon30:c.C3840A:p.G1280G,CACNA1C:NM_199460:exon30:c.C3840A:p.G1280G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201258230;CLNALLELEID=99310;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=0.0029;ExAC_nontcga_ALL=0.0024;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0045;AF=0.0010;AF_popmax=0.0024;AF_male=0.0011;AF_female=0.0007;AF_raw=0.0010;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0016;AF_fin=0.0003;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=.;Kaviar_AF=0.0021345;Kaviar_AC=330;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-502.549,0,-565.355:430:223:205:7297:8019 . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2721137 . C T 5169.18 . AB=0;ABP=0;AC=19;AF=1;AN=32;AO=404;CIGAR=1X;DP=5335;DPB=404;DPRA=0;EPP=3.3543;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7426;MQMR=0;NS=1;NUMALT=1;ODDS=564.668;PAIRED=0.997525;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=15001;QR=0;RO=0;RPL=176;RPP=17.5441;RPPR=0;RPR=228;RUN=1;SAF=224;SAP=13.4162;SAR=180;SF=4,7,10,14,16,17,21,23,24,25,26,29,30,31,32,34;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 1/1:-1293.59,-121.616,0:404:0:404:15001:0 . . 0/1:-508.954,0,-616.788:439:237:202:7420:8649 . . 0/1:-489.716,0,-450.376:364:176:188:6921:6462:176,188 . . . 1/1:-769.647,-70.0288,0:245:1:244:8987:39 . 0/1:-419.584,0,-523.829:365:199:166:6147:7320:199,166 1/1:-1318.38,-122.519,0:408:0:407:15323:0 . . . 0/1:-101.056,0,-266.913:145:101:44:1670:3590:101,44 . 0/1:-453.499,0,-557.694:392:210:179:6590:7818 0/1:-188.074,0,-191.719:147:75:72:2684:2718:75,72 0/1:-638.084,0,-724.239:533:281:252:9252:10209:281,252 0/1:-487.81,0,-467.294:397:196:199:7022:6804 . . 0/1:-554.122,0,-644.231:480:254:226:8048:9126 0/1:-295.487,0,-367.282:255:140:115:4305:5146 0/1:-268.583,0,-282.611:223:113:109:3863:4041 0/1:-340.572,0,-409.479:291:157:134:4941:5746 . 0/1:-279.998,0,-359.936:247:137:110:4105:5041 . . +chr12 2757752 . AGAGTCCCT AGAGCCCCT 724.61 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=32;CIGAR=4M1X4M;DP=42;DPB=42;DPRA=0;EPP=16.3106;EPPR=0;GTI=0;LEN=1;MEANALT=7;MQM=37.8125;MQMR=0;NS=1;NUMALT=1;ODDS=32.6753;PAIRED=0.90625;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=976;QR=0;RO=0;RPL=28;RPP=42.0968;RPPR=0;RPR=4;RUN=1;SAF=5;SAP=35.8538;SAR=27;SF=24;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-84.0518,-9.63296,0:42:0:32:976:0:0,32 . . . . . . . . . . . . +chr12 2757755 . GTCCCT GCCCCT 1819.84 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=69;CIGAR=1M1X4M;DP=182;DPB=94.1667;DPRA=0;EPP=3.04177;EPPR=0;GTI=0;LEN=1;MEANALT=8;MQM=38.1304;MQMR=0;NS=1;NUMALT=1;ODDS=53.0789;PAIRED=0.971014;PAIREDR=0;PAO=3.16667;PQA=67.6667;PQR=61.6667;PRO=2.66667;QA=2104;QR=0;RO=0;RPL=51;RPP=37.2818;RPPR=0;RPR=18;RUN=1;SAF=16;SAP=46.0936;SAR=53;SF=6,9;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . 1/1:-181.485,-28.5978,0:92:0:69:2104:0:0,69 . . 1/1:-205.539,-33.7154,0:90:0:74:2389:0:0,74 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2760898 . C T 4564.55 . AB=0.523669;ABP=4.65497;AC=3;AF=0.5;AN=6;AO=177;CIGAR=1X;DP=1183;DPB=338;DPRA=0;EPP=7.43912;EPPR=4.6628;GTI=0;LEN=1;MEANALT=2;MQM=41.3672;MQMR=41.7421;NS=1;NUMALT=1;ODDS=847.572;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6182;QR=5596;RO=159;RPL=104;RPP=14.8;RPPR=17.8828;RPR=73;RUN=1;SAF=49;SAP=79.5762;SAR=128;SF=13,23,29;SRF=40;SRP=88.244;SRR=119;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-434.683,0,-385.77:338:159:177:6182:5596 . . . . . . . . . 0/1:-439.7,0,-459.435:354:181:172:6309:6508 . . . . . 0/1:-551.987,0,-624.029:491:260:230:8057:8861 . . . . . . . +chr12 2774833 . T C 6608.27 . AB=0.521385;ABP=4.96064;AC=1;AF=0.5;AN=2;AO=256;CIGAR=1X;DP=491;DPB=491;DPRA=0;EPP=29.6108;EPPR=25.1963;GTI=0;LEN=1;MEANALT=1;MQM=41.8438;MQMR=42;NS=1;NUMALT=1;ODDS=1410.45;PAIRED=1;PAIREDR=0.995745;PAO=0;PQA=0;PQR=0;PRO=0;QA=9486;QR=8929;RO=235;RPL=107;RPP=17.9731;RPPR=8.78549;RPR=149;RUN=1;SAF=131;SAP=3.31566;SAR=125;SF=17;SRF=118;SRP=3.01954;SRR=117;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-672.572,0,-622.843:491:235:256:9486:8929 . . . . . . . . . . . . . . . . . . . +chr12 2778210 . G A 3495.63 . AB=0.481967;ABP=3.87177;AC=1;AF=0.5;AN=2;AO=147;CIGAR=1X;DP=305;DPB=305;DPRA=0;EPP=4.20683;EPPR=5.70403;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=804.898;PAIRED=1;PAIREDR=0.993671;PAO=0;PQA=0;PQR=0;PRO=0;QA=5198;QR=5605;RO=158;RPL=99;RPP=41.4321;RPPR=13.7852;RPR=48;RUN=1;SAF=66;SAP=6.33398;SAR=81;SF=0;SRF=73;SRP=4.98936;SRR=85;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-AS2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369267978;CLNALLELEID=330298;CLNDN=Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified;CLNDISDB=MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|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=0.0002;ExAC_nontcga_ALL=0.0002;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=8.919e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0001;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=6.481e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0001;non_neuro_AF_popmax=7.342e-05;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;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\x3d99.283092;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-360.882,0,-396.841:305:158:147:5198:5605:158,147 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2786236 . CTC CC 56.48 . AB=0.236842;ABP=25.8679;AC=1;AF=0.5;AN=2;AO=9;CIGAR=1M1D1M;DP=38;DPB=35;DPRA=0;EPP=9.04217;EPPR=3.09716;GTI=0;LEN=1;MEANALT=3;MQM=40;MQMR=42;NS=1;NUMALT=1;ODDS=13.004;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=273;QR=857;RO=25;RPL=1;RPP=14.8328;RPPR=28.1125;RPR=8;RUN=1;SAF=3;SAP=5.18177;SAR=6;SF=1;SRF=17;SRP=10.0459;SRR=8;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=CACNA1C-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs772243944;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.739e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0.0017;ExAC_nontcga_SAS=0.0004;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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:GL:DP:RO:AO:QA:QR . 0/1:-13.8558,0,-64.9362:38:25:9:273:857 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2788615 . C T 1895.73 . AB=0.519481;ABP=3.51792;AC=1;AF=0.5;AN=2;AO=80;CIGAR=1X;DP=154;DPB=154;DPRA=0;EPP=11.8048;EPPR=5.94472;GTI=0;LEN=1;MEANALT=1;MQM=41.7625;MQMR=42;NS=1;NUMALT=1;ODDS=381.38;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2988;QR=2644;RO=74;RPL=21;RPP=42.2054;RPPR=29.4201;RPR=59;RUN=1;SAF=70;SAP=100.727;SAR=10;SF=16;SRF=64;SRP=88.5781;SRR=10;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-211.687,0,-184.333:154:74:80:2988:2644:74,80 . . . . . . . . . . . . . . . . . . . . +chr12 2788668 . C G 3296.19 . AB=0.545098;ABP=7.51504;AC=1;AF=0.5;AN=2;AO=139;CIGAR=1X;DP=255;DPB=255;DPRA=0;EPP=3.02592;EPPR=3.68421;GTI=0;LEN=1;MEANALT=1;MQM=41.9424;MQMR=42;NS=1;NUMALT=1;ODDS=584.222;PAIRED=1;PAIREDR=0.991379;PAO=0;PQA=0;PQR=0;PRO=0;QA=4898;QR=4010;RO=116;RPL=46;RPP=37.5195;RPPR=39.2514;RPR=93;RUN=1;SAF=107;SAP=90.8846;SAR=32;SF=32;SRF=91;SRP=84.5528;SRR=25;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001129837:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129838:exon41:c.C5174G:p.A1725G,CACNA1C:NM_001129839:exon41:c.C5168G:p.A1723G,CACNA1C:NM_001129846:exon41:c.C5117G:p.A1706G,CACNA1C:NM_001167625:exon41:c.C5117G:p.A1706G,CACNA1C:NM_000719:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129829:exon42:c.C5273G:p.A1758G,CACNA1C:NM_001129830:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129833:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129834:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129835:exon42:c.C5207G:p.A1736G,CACNA1C:NM_001129836:exon42:c.C5201G:p.A1734G,CACNA1C:NM_001129840:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129841:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129842:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129843:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129844:exon42:c.C5141G:p.A1714G,CACNA1C:NM_001167623:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001167624:exon42:c.C5150G:p.A1717G,CACNA1C:NM_001129831:exon43:c.C5234G:p.A1745G,CACNA1C:NM_001129832:exon43:c.C5210G:p.A1737G,CACNA1C:NM_001129827:exon44:c.C5294G:p.A1765G,CACNA1C:NM_199460:exon44:c.C5294G:p.A1765G;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201492706;CLNALLELEID=99318;CLNDN=Cardiomyopathy,_restrictive|Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|not_provided;CLNDISDB=MeSH:D002313,MedGen:C0007196,Orphanet:ORPHA217632|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.059;SIFT_converted_rankscore=0.419;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.181;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.0;Polyphen2_HVAR_rankscore=0.262;Polyphen2_HVAR_pred=B;LRT_score=0.383;LRT_converted_rankscore=0.044;LRT_pred=N;MutationTaster_score=0.671;MutationTaster_converted_rankscore=0.303;MutationTaster_pred=N;MutationAssessor_score=-0.205;MutationAssessor_score_rankscore=0.041;MutationAssessor_pred=N;FATHMM_score=-3.87;FATHMM_converted_rankscore=0.961;FATHMM_pred=D;PROVEAN_score=-1.06;PROVEAN_converted_rankscore=0.281;PROVEAN_pred=N;VEST3_score=0.049;VEST3_rankscore=0.091;MetaSVM_score=-0.005;MetaSVM_rankscore=0.822;MetaSVM_pred=T;MetaLR_score=0.734;MetaLR_rankscore=0.909;MetaLR_pred=D;M-CAP_score=0.080;M-CAP_rankscore=0.735;M-CAP_pred=D;REVEL_score=0.267;REVEL_rankscore=0.586;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.872;CADD_raw_rankscore=0.406;CADD_phred=21.7;DANN_score=0.994;DANN_rankscore=0.615;fathmm-MKL_coding_score=0.923;fathmm-MKL_coding_rankscore=0.550;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.325;Eigen-PC-raw=-0.144;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.454;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=3.72;GERP++_RS_rankscore=0.417;phyloP100way_vertebrate=3.621;phyloP100way_vertebrate_rankscore=0.537;phyloP20way_mammalian=-0.666;phyloP20way_mammalian_rankscore=0.040;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.917;phastCons20way_mammalian_rankscore=0.393;SiPhy_29way_logOdds=10.797;SiPhy_29way_logOdds_rankscore=0.455;Interpro_domain=Voltage-gated_calcium_channel_subunit_alpha,_C-terminal;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0008;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0011;ExAC_nontcga_OTH=0.0045;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=0.0001;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0005;AF_fin=0;AF_asj=0.0103;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=0.0005821;Kaviar_AC=90;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.699570;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-349.575,0,-273.198:255:116:139:4898:4010 . . . . +chr12 2788810 . C T 6097.68 . AB=0.518868;ABP=4.64915;AC=6;AF=0.5;AN=12;AO=275;CIGAR=1X;DP=3243;DPB=530;DPRA=0;EPP=57.4077;EPPR=33.1254;GTI=0;LEN=1;MEANALT=3;MQM=41.9564;MQMR=41.9203;NS=1;NUMALT=1;ODDS=1437.15;PAIRED=1;PAIREDR=0.996016;PAO=0;PQA=0;PQR=0;PRO=0;QA=10203;QR=9187;RO=251;RPL=160;RPP=19.0002;RPPR=16.1689;RPR=115;RUN=1;SAF=116;SAP=17.6105;SAR=159;SF=6,11,12,21,22,31;SRF=101;SRP=23.782;SRR=150;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-724.714,0,-638.161:530:251:275:10203:9187:251,275 . . . . 0/1:-800.194,0,-868.321:690:352:336:11662:12403 0/1:-1257.09,0,-1244.21:993:496:497:18134:17795:496,497 . . . . . . . . 0/1:-163.922,0,-685.881:338:253:85:3058:9054:253,85 0/1:-373.849,0,-378.196:303:152:151:5365:5388 . . . . . . . . 0/1:-445.618,0,-532.086:389:207:182:6487:7472 . . . . . +chr12 2788879 . G A 7172.06 . AB=0;ABP=0;AC=44;AF=1;AN=62;AO=361;CIGAR=1X;DP=12025;DPB=362;DPRA=0;EPP=64.3709;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.8753;MQMR=0;NS=1;NUMALT=1;ODDS=505.057;PAIRED=0.99723;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=13349;QR=0;RO=0;RPL=262;RPP=162.827;RPPR=0;RPR=99;RUN=1;SAF=105;SAP=140.162;SAR=256;SF=0,1,2,3,4,6,8,9,11,12,13,14,15,16,17,18,19,20,21,22,24,25,26,28,29,30,31,32,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1155.53,-108.672,0:362:0:361:13349:0:0,361 0/1:-164.656,0,-191.739:140:74:65:2379:2685 0/1:-544.188,0,-613.643:461:241:220:7898:8706 0/1:-568.288,0,-514.184:425:201:221:8057:7388:201,221 0/1:-737.027,0,-764.388:591:302:288:10568:10892 . 1/1:-972.18,-89.4546,0:309:1:307:11255:36:1,307 . 1/1:-1061.72,-102.35,0:340:0:340:12267:0 1/1:-1076.82,-103.253,0:344:0:343:12423:0:0,343 . 0/1:-623.973,0,-564.403:473:226:245:8907:8195 0/1:-790.47,0,-783.968:622:310:309:11296:11181:310,309 0/1:-493.415,0,-493.401:393:197:194:7042:7052 1/1:-931.927,-86.5483,0:298:1:297:10785:32 1/1:-1409.68,-135.765,0:451:0:451:16298:0 1/1:-1146.13,-106.169,0:366:1:363:13295:39:1,363 0/1:-721.067,0,-598.467:516:240:274:10123:8677 1/1:-832.44,-80.074,0:266:0:266:9606:0 1/1:-1450.54,-133.298,0:467:2:463:16865:76 0/1:-684.722,0,-801.311:587:314:271:9977:11387:314,271 0/1:-209.559,0,-276.295:189:105:84:3072:3828:105,84 0/1:-216.363,0,-248.113:182:96:86:3134:3481 . 1/1:-646.406,-60.8081,0:202:0:202:7463:0:0,202 0/1:-817.298,0,-737.558:614:292:319:11594:10606:292,319 0/1:-635.231,0,-609.33:526:253:270:9199:8842 . 0/1:-314.681,0,-345.1:271:142:129:4582:4933 0/1:-652.861,0,-873.296:616:343:273:9657:12196 0/1:-479.805,0,-483.513:368:186:182:6813:6848 0/1:-366.825,0,-350.935:286:141:144:5240:5030 0/1:-506.317,0,-512.319:412:207:203:7311:7344 . 1/1:-1111.7,-105.963,0:352:0:352:12856:0 1/1:-699.889,-65.0225,0:217:0:216:8076:0 1/1:-1181.22,-113.187,0:379:0:376:13637:0 +chr12 2789641 . G A 5059.32 . AB=0.493716;ABP=3.20133;AC=1;AF=0.5;AN=2;AO=275;CIGAR=1X;DP=557;DPB=557;DPRA=0;EPP=3.96575;EPPR=5.81998;GTI=0;LEN=1;MEANALT=2;MQM=31.5455;MQMR=35.0036;NS=1;NUMALT=1;ODDS=1164.95;PAIRED=0.996364;PAIREDR=0.996416;PAO=0;PQA=0;PQR=0;PRO=0;QA=10219;QR=10327;RO=279;RPL=181;RPP=62.7771;RPPR=33.9012;RPR=94;RUN=1;SAF=117;SAP=16.2839;SAR=158;SF=17;SRF=130;SRP=5.81998;SRR=149;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001167625:exon42:c.G5524A:p.E1842K;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.607;SIFT_converted_rankscore=0.055;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=0.023;LRT_converted_rankscore=0.016;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-3.89;FATHMM_converted_rankscore=0.960;FATHMM_pred=D;PROVEAN_score=0.1;PROVEAN_converted_rankscore=0.068;PROVEAN_pred=N;VEST3_score=0.183;VEST3_rankscore=0.245;MetaSVM_score=-0.134;MetaSVM_rankscore=0.793;MetaSVM_pred=T;MetaLR_score=0.621;MetaLR_rankscore=0.867;MetaLR_pred=D;M-CAP_score=0.188;M-CAP_rankscore=0.860;M-CAP_pred=D;REVEL_score=0.244;REVEL_rankscore=0.555;MutPred_score=0.417;MutPred_rankscore=0.458;CADD_raw=0.352;CADD_raw_rankscore=0.128;CADD_phred=6.186;DANN_score=0.804;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.042;fathmm-MKL_coding_rankscore=0.096;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.156;Eigen-PC-raw=-1.163;GenoCanyon_score=0.960;GenoCanyon_score_rankscore=0.284;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=1.2;GERP++_RS_rankscore=0.201;phyloP100way_vertebrate=0.567;phyloP100way_vertebrate_rankscore=0.231;phyloP20way_mammalian=0.034;phyloP20way_mammalian_rankscore=0.151;phastCons100way_vertebrate=0.009;phastCons100way_vertebrate_rankscore=0.180;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=4.076;SiPhy_29way_logOdds_rankscore=0.093;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.326479;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-520.843,0,-619.146:557:279:275:10219:10327 . . . . . . . . . . . . . . . . . . . +chr12 2789686 . TC CG 167.79 . AB=0.241071;ABP=133.454;AC=1;AF=0.5;AN=2;AO=54;CIGAR=2X;DP=224;DPB=226;DPRA=0;EPP=55.1256;EPPR=26.768;GTI=0;LEN=2;MEANALT=2;MQM=29.8704;MQMR=32.3609;NS=1;NUMALT=1;ODDS=38.6352;PAIRED=1;PAIREDR=0.390533;PAO=0;PQA=0;PQR=100;PRO=4;QA=1921;QR=6230;RO=169;RPL=9;RPP=55.1256;RPPR=13.8163;RPR=45;RUN=1;SAF=54;SAP=120.27;SAR=0;SF=1;SRF=89;SRP=4.05106;SRR=80;TYPE=mnp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNA1C:NM_001167625:exon42:c.5569_5570CG;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\x3d99.423328;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-62.8201,0,-393.422:224:169:54:1921:6230 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2789697 . AGGAG GGGAC 296.02 . AB=0.259615;ABP=107.408;AC=1;AF=0.5;AN=2;AO=54;CIGAR=1X3M1X;DP=208;DPB=209.8;DPRA=0;EPP=30.1939;EPPR=15.7007;GTI=0;LEN=5;MEANALT=1;MQM=29.537;MQMR=31.8506;NS=1;NUMALT=1;ODDS=68.1621;PAIRED=1;PAIREDR=0.448052;PAO=0;PQA=0;PQR=65;PRO=3;QA=1925;QR=5590;RO=154;RPL=14;RPP=30.1939;RPPR=5.77399;RPR=40;RUN=1;SAF=54;SAP=120.27;SAR=0;SF=1;SRF=88;SRP=9.83493;SRR=66;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNA1C:NM_001167625:exon42:c.5580_5584GGGAC;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\x3d99.269006,99.069714;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-67.432,0,-346.135:208:154:54:1925:5590 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2789718 . CT TG 344.00 . AB=0.278689;ABP=80.8629;AC=1;AF=0.5;AN=2;AO=51;CIGAR=2X;DP=183;DPB=183;DPRA=0;EPP=3.05288;EPPR=5.41562;GTI=0;LEN=2;MEANALT=3;MQM=29.1961;MQMR=31.1462;NS=1;NUMALT=1;ODDS=79.2093;PAIRED=1;PAIREDR=0.530769;PAO=0;PQA=0;PQR=0;PRO=0;QA=1751;QR=4727;RO=130;RPL=26;RPP=3.05288;RPPR=3.27756;RPR=25;RUN=1;SAF=51;SAP=113.755;SAR=0;SF=1;SRF=78;SRP=14.302;SRR=52;TYPE=mnp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=CACNA1C:NM_001167625:exon42:c.5601_5602TG;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\x3d98.987746;ALLELE_END GT:GL:DP:RO:AO:QA:QR . 0/1:-62.5961,0,-279.171:183:130:51:1751:4727 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2789737 . G C 39.24 . AB=0.22191;ABP=242.141;AC=1;AF=0.5;AN=2;AO=79;CIGAR=1X;DP=356;DPB=356;DPRA=0;EPP=112.106;EPPR=11.5472;GTI=0;LEN=1;MEANALT=1;MQM=29.8861;MQMR=30.7509;NS=1;NUMALT=1;ODDS=9.03415;PAIRED=1;PAIREDR=0.509025;PAO=0;PQA=0;PQR=0;PRO=0;QA=2860;QR=9833;RO=277;RPL=71;RPP=112.106;RPPR=6.46741;RPR=8;RUN=1;SAF=79;SAP=174.557;SAR=0;SF=28;SRF=141;SRP=3.20628;SRR=136;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CACNA1C:NM_001167625:exon42:c.G5620C:p.A1874P;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.168;SIFT_converted_rankscore=0.240;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=-3.96;FATHMM_converted_rankscore=0.962;FATHMM_pred=D;PROVEAN_score=0.02;PROVEAN_converted_rankscore=0.076;PROVEAN_pred=N;VEST3_score=0.05;VEST3_rankscore=0.044;MetaSVM_score=-0.262;MetaSVM_rankscore=0.761;MetaSVM_pred=T;MetaLR_score=0.619;MetaLR_rankscore=0.866;MetaLR_pred=D;M-CAP_score=0.104;M-CAP_rankscore=0.780;M-CAP_pred=D;REVEL_score=0.121;REVEL_rankscore=0.341;MutPred_score=0.236;MutPred_rankscore=0.167;CADD_raw=-0.302;CADD_raw_rankscore=0.068;CADD_phred=0.658;DANN_score=0.776;DANN_rankscore=0.116;fathmm-MKL_coding_score=0.036;fathmm-MKL_coding_rankscore=0.087;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.207;Eigen-PC-raw=-1.244;GenoCanyon_score=0.951;GenoCanyon_score_rankscore=0.279;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.326;integrated_confidence_value=0;GERP++_RS=0.038;GERP++_RS_rankscore=0.135;phyloP100way_vertebrate=-0.758;phyloP100way_vertebrate_rankscore=0.048;phyloP20way_mammalian=0.040;phyloP20way_mammalian_rankscore=0.155;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=3.407;SiPhy_29way_logOdds_rankscore=0.069;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.037112;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-83.0585,0,-582.828:356:277:79:2860:9833 . . . . . . . . +chr12 2789755 . TC CT 122.49 . AB=0.316176;ABP=42.9271;AC=1;AF=0.5;AN=2;AO=43;CIGAR=2X;DP=136;DPB=136;DPRA=0;EPP=96.3836;EPPR=28.9964;GTI=0;LEN=2;MEANALT=2;MQM=27.9302;MQMR=28.3297;NS=1;NUMALT=1;ODDS=28.2046;PAIRED=1;PAIREDR=0.56044;PAO=0;PQA=0;PQR=0;PRO=0;QA=1522;QR=3259;RO=91;RPL=43;RPP=96.3836;RPPR=35.6778;RPR=0;RUN=1;SAF=43;SAP=96.3836;SAR=0;SF=1;SRF=51;SRP=5.89764;SRR=40;TYPE=mnp;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=CACNA1C-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:GL:DP:RO:AO:QA:QR . 0/1:-58.0326,0,-171.923:136:91:43:1522:3259 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 2791130 . CGA TGG,CGG 11791.42 . AB=0;ABP=0;AC=62,1;AF=1;AN=72;AO=486;CIGAR=1X1M1X;DP=16477;DPB=493;DPRA=0;EPP=10.1592;EPPR=5.18177;GTI=0;LEN=3;MEANALT=3;MQM=39.7675;MQMR=42;NS=1;NUMALT=1;ODDS=676.458;PAIRED=1;PAIREDR=1;PAO=12;PQA=228;PQR=0;PRO=0;QA=17940;QR=37;RO=1;RPL=248;RPP=3.4571;RPPR=5.18177;RPR=238;RUN=1;SAF=267;SAP=13.3047;SAR=219;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,34,35,36;SRF=1;SRP=5.18177;SRR=0;TYPE=complex;ANNOVAR_DATE=2018-04-16;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;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71441836;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0007827;Kaviar_AC=121;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.793459,98.816671;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CACNA1C;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=CACNA1C:NM_001129830:exon43:c.5461delA:p.M1821fs,CACNA1C:NM_001167624:exon43:c.5461delA:p.M1821fs,CACNA1C:NM_199460:exon45:c.5605delA:p.M1869fs;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\x3d98.793459;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1503.84,-146.965,0,.,.,.:489:1:486,.:17940,.:37:1,486 0/1:-225.971,0,-195.816,.,.,.:179:78:99,.:3566,.:2926 1/1:-1498.65,-153.224,0,.,.,.:510:0:506,.:18351,.:0 1/1:-1746.25,-177.608,0,.,.,.:572:0:567,.:20897,.:0:0,567 1/1:-1835.35,-186.338,0,.,.,.:614:0:613,.:22322,.:0 1/1:-1903.49,-197.476,0,.,.,.:636:0:634,.:23396,.:0:0,634 1/1:-1155.54,-117.703,0,.,.,.:387:0:385,.:14201,.:0:0,385 0/1:-827.556,0,-642.756,.,.,.:613:263:346,.:12450,.:9589 1/1:-1193.15,-119.553,0,.,.,.:405:1:403,.:14751,.:29 1/1:-1350.33,-136.367,0,.,.,.:445:0:445,.:16484,.:0:0,445 0/1:-779.781,0,-473.121,.,.,.:512:201:310,.:11435,.:7354:201,310 0/1:-671.198,0,-506.335,.,.,.:485:213:269,.:9632,.:7601 1/1:-2232.94,-230.89,0,.,.,.:742:0:739,.:27296,.:0:0,739 1/1:-1586.12,-164.663,0,.,.,.:534:0:532,.:18960,.:0 1/1:-1122.88,-111.983,0,.,.,.:372:0:372,.:13614,.:0 1/1:-1635.91,-173.092,0,.,.,.:563:0:561,.:20265,.:0 1/1:-1542.23,-159.847,0,.,.,.:520:0:520,.:19107,.:0:0,520 1/2:-1600.85,-783.54,-685.705,-822.221,0,-733.418:594:0:311,281:11339,10372:0 1/1:-814.97,-85.1915,0,.,.,.:278:0:275,.:9824,.:0 1/1:-1523.71,-157.74,0,.,.,.:522:0:519,.:18677,.:0 1/1:-1666.89,-166.169,0,.,.,.:553:0:552,.:20460,.:0:0,552 1/1:-520.405,-53.5833,0,.,.,.:176:0:176,.:6408,.:0:0,176 1/1:-629.3,-64.1194,0,.,.,.:212:0:211,.:7493,.:0 0/1:-701.463,0,-592.779,.,.,.:538:235:302,.:10790,.:8668 1/1:-672.544,-69.839,0,.,.,.:225:0:224,.:8214,.:0:0,224 1/1:-1867.47,-189.348,0,.,.,.:629:0:625,.:22702,.:0:0,625 1/1:-1544.97,-164.362,0,.,.,.:547:0:542,.:18794,.:0 0/1:-671.435,0,-458.003,.,.,.:466:195:267,.:9689,.:7023:195,267 1/1:-866.972,-98.1358,0,.,.,.:321:0:320,.:11107,.:0 1/1:-1781.75,-183.026,0,.,.,.:606:0:604,.:21410,.:0 0/1:-475.816,0,-385.333,.,.,.:357:158:198,.:7283,.:5783 0/1:-342.581,0,-215.009,.,.,.:225:91:134,.:4817,.:3232 0/1:-572.368,0,-412.762,.,.,.:402:168:230,.:8267,.:6161 . 1/1:-1324.36,-134.259,0,.,.,.:442:0:441,.:16121,.:0 1/1:-850.966,-86.3956,0,.,.,.:283:0:283,.:10380,.:0 1/1:-1518.93,-154.87,0,.,.,.:523:1:518,.:18613,.:36 +chr12 2791205 . A G 11147.39 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=413;CIGAR=1X;DP=14427;DPB=413;DPRA=0;EPP=3.26793;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.1622;MQMR=0;NS=1;NUMALT=1;ODDS=577.145;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=15244;QR=0;RO=0;RPL=231;RPP=15.6343;RPPR=0;RPR=182;RUN=1;SAF=208;SAP=3.05762;SAR=205;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1223.72,-124.325,0:413:0:413:15244:0:0,413 1/1:-472.345,-48.1648,0:160:0:160:5956:0 1/1:-1168.11,-123.723,0:411:0:411:14957:0 1/1:-1296.74,-131.508,0:449:1:448:16461:38:1,448 1/1:-1378.19,-143.591,0:478:0:477:17573:0 1/1:-1372.26,-148.408,0:496:0:493:18028:0:0,493 1/1:-999.89,-103.253,0:343:0:343:12698:0:0,343 1/1:-1491.56,-154.428,0:513:0:513:18986:0 1/1:-986.798,-103.726,0:350:1:348:12809:15 1/1:-1032.2,-108.07,0:360:0:359:13266:0:0,359 1/1:-1298.06,-130.256,0:439:1:436:16163:15:1,436 1/1:-1370.25,-138.173,0:459:0:459:16535:0 1/1:-1658.12,-173.995,0:578:0:578:21390:0:0,578 1/1:-1347.67,-140.28,0:467:0:466:16927:0 1/1:-1068.34,-109.575,0:365:0:364:13506:0 1/1:-1422.42,-153.525,0:512:0:510:18751:0 1/1:-1337.97,-142.688,0:476:0:474:17524:0:0,474 1/1:-1538.87,-157.138,0:523:0:522:19282:0 1/1:-770.961,-80.337,0:273:1:270:9844:14 1/1:-1171.35,-123.422,0:410:0:410:15092:0 1/1:-1399.19,-144.795,0:481:0:481:17854:0:0,481 1/1:-377.689,-40.338,0:134:0:134:4920:0:0,134 1/1:-554.507,-55.6906,0:185:0:185:6801:0 1/1:-1389.43,-141.861,0:485:2:483:17922:71 1/1:-578.194,-59.6039,0:199:0:198:7328:0:0,198 1/1:-1579.3,-162.556,0:541:0:540:19692:0:0,540 1/1:-1296.24,-138.474,0:460:0:460:16252:0 1/1:-1250.57,-126.734,0:423:0:421:15400:0:0,421 1/1:-813.784,-94.2224,0:314:0:313:11115:0 1/1:-1554.75,-160.148,0:534:0:532:19250:0 1/1:-779.733,-80.676,0:269:0:268:9840:0 1/1:-581.932,-59.6039,0:199:0:198:7052:0 1/1:-1100.12,-109.876,0:366:0:365:13596:0 1/1:-1021.54,-102.388,0:345:1:344:12686:15 1/1:-972.429,-100.544,0:334:0:334:12363:0 1/1:-664.944,-69.5379,0:231:0:231:8554:0 1/1:-1266.78,-136.066,0:452:0:452:16359:0 +chr12 2794977 . G A 533.43 . AB=0.50104;ABP=3.01481;AC=1;AF=0.5;AN=2;AO=241;CIGAR=1X;DP=481;DPB=481;DPRA=0;EPP=10.5879;EPPR=11.1533;GTI=0;LEN=1;MEANALT=1;MQM=9.64315;MQMR=25.9042;NS=1;NUMALT=1;ODDS=122.827;PAIRED=1;PAIREDR=0.995833;PAO=0;PQA=0;PQR=0;PRO=0;QA=8678;QR=8886;RO=240;RPL=112;RPP=5.61426;RPPR=14.7363;RPR=129;RUN=1;SAF=118;SAP=3.23556;SAR=123;SF=11;SRF=111;SRP=5.94179;SRR=129;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-61.69,0,-401.717:481:240:241:8678:8886 . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 5153694 . C T 1275.75 . AB=0.53271;ABP=4.00471;AC=1;AF=0.5;AN=2;AO=57;CIGAR=1X;DP=107;DPB=107;DPRA=0;EPP=26.8203;EPPR=3.18402;GTI=0;LEN=1;MEANALT=1;MQM=40.8246;MQMR=41.92;NS=1;NUMALT=1;ODDS=282.754;PAIRED=0.982456;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2057;QR=1871;RO=50;RPL=12;RPP=44.4969;RPPR=9.26414;RPR=45;RUN=1;SAF=41;SAP=26.8203;SAR=16;SF=4;SRF=31;SRP=9.26414;SRR=19;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . 0/1:-142.889,0,-130.115:107:50:57:2057:1871 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 5154462 . T C 6469.80 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=228;CIGAR=1X;DP=8947;DPB=238;DPRA=0;EPP=15.3534;EPPR=3.73412;GTI=0;LEN=1;MEANALT=2;MQM=38.5175;MQMR=1;NS=1;NUMALT=1;ODDS=313.829;PAIRED=0.947368;PAIREDR=0.666667;PAO=0;PQA=0;PQR=0;PRO=0;QA=8002;QR=96;RO=3;RPL=152;RPP=58.0209;RPPR=9.52472;RPR=76;RUN=1;SAF=114;SAP=3.0103;SAR=114;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-655.864,-69.3083,0:238:3:228:8002:96:3,228 1/1:-252.053,-26.7917,0:89:0:89:3170:0 1/1:-665.903,-70.3373,0:252:3:236:8122:82 1/1:-743.89,-74.0534,0:259:0:246:8880:0:0,246 1/1:-839.751,-90.1903,0:313:5:296:10480:167 1/1:-773.193,-80.9771,0:279:0:269:9566:0:0,269 1/1:-528.59,-53.8844,0:187:0:179:6415:0:0,179 1/1:-958.403,-103.064,0:364:3:344:12060:82 1/1:-467.887,-48.5313,0:169:3:159:5719:107 1/1:-622.959,-64.4204,0:217:0:214:7579:0:0,214 1/1:-728.295,-76.1512,0:264:4:250:8994:126:4,250 1/1:-790.117,-84.5049,0:297:1:280:9666:33 1/1:-937.878,-99.6409,0:345:0:331:11591:0:0,331 1/1:-709.348,-76.5975,0:270:2:253:8870:67 1/1:-499.568,-50.272,0:171:0:167:5949:0 1/1:-783.026,-82.9172,0:292:2:274:9610:65 1/1:-617.785,-63.4354,0:222:1:210:7612:33:1,210 1/1:-871.246,-89.7561,0:319:3:296:10675:104 1/1:-623.788,-63.8184,0:216:0:212:7559:0 1/1:-632.518,-64.4204,0:217:0:214:7664:0 1/1:-833.712,-85.4839,0:292:4:281:10210:139:4,281 1/1:-327.397,-33.7154,0:114:0:112:3918:0:0,112 1/1:-332.644,-36.7257,0:126:0:122:4096:0 1/1:-778.201,-79.0245,0:278:1:265:9413:12 1/1:-422.718,-43.2897,0:148:1:143:5116:33:1,143 1/1:-1101.04,-114.386,0:399:3:381:13581:78:3,381 1/1:-749.099,-81.2781,0:277:0:270:9131:0 1/1:-869.707,-92.1922,0:325:2:309:10916:47:2,309 1/1:-585.366,-63.6226,0:214:6:207:7261:171 1/1:-1006.23,-108.633,0:376:3:362:12541:65 1/1:-635.126,-65.3235,0:222:0:217:7641:0 1/1:-464.827,-48.7669,0:168:0:162:5629:0 1/1:-635.566,-67.2791,0:229:2:222:7701:67 1/1:-562.581,-59.6576,0:207:3:196:7035:82 1/1:-574.918,-57.3756,0:219:4:201:7141:134 1/1:-388.39,-39.963,0:139:1:132:4674:16 1/1:-651.412,-69.0944,0:234:2:228:7974:61 +chr12 21926288 . G C 7135.56 . AB=0.492091;ABP=3.31942;AC=1;AF=0.5;AN=2;AO=280;CIGAR=1X;DP=569;DPB=569;DPRA=0;EPP=7.47733;EPPR=3.01781;GTI=0;LEN=1;MEANALT=1;MQM=41.6679;MQMR=41.9792;NS=1;NUMALT=1;ODDS=1643.02;PAIRED=1;PAIREDR=0.99654;PAO=0;PQA=0;PQR=0;PRO=0;QA=10390;QR=10601;RO=289;RPL=125;RPP=9.99003;RPPR=24.1164;RPR=155;RUN=1;SAF=169;SAP=29.099;SAR=111;SF=5;SRF=175;SRP=30.9689;SRR=114;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNJ8;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNJ8:NM_004982:exon2:c.C263G:p.A88G;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs117808169;CLNALLELEID=188534;CLNDN=Brugada_syndrome|not_specified;CLNDISDB=MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=1.0;SIFT_converted_rankscore=0.010;SIFT_pred=T;Polyphen2_HDIV_score=0.2;Polyphen2_HDIV_rankscore=0.280;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.204;Polyphen2_HVAR_rankscore=0.354;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=0.55;MutationAssessor_score_rankscore=0.145;MutationAssessor_pred=N;FATHMM_score=-3.03;FATHMM_converted_rankscore=0.923;FATHMM_pred=D;PROVEAN_score=0.56;PROVEAN_converted_rankscore=0.103;PROVEAN_pred=N;VEST3_score=0.824;VEST3_rankscore=0.812;MetaSVM_score=-0.167;MetaSVM_rankscore=0.785;MetaSVM_pred=T;MetaLR_score=0.545;MetaLR_rankscore=0.833;MetaLR_pred=D;M-CAP_score=0.103;M-CAP_rankscore=0.777;M-CAP_pred=D;REVEL_score=0.610;REVEL_rankscore=0.849;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.056;CADD_raw_rankscore=0.427;CADD_phred=22.4;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.929;fathmm-MKL_coding_rankscore=0.565;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.149;Eigen-PC-raw=0.045;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=4.44;GERP++_RS_rankscore=0.530;phyloP100way_vertebrate=8.014;phyloP100way_vertebrate_rankscore=0.882;phyloP20way_mammalian=0.978;phyloP20way_mammalian_rankscore=0.596;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=17.271;SiPhy_29way_logOdds_rankscore=0.869;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=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;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;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0004;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\x3dENSR00000049646|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.105932;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-724.79,0,-747.605:569:289:280:10390:10601:289,280 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 21958998 . CAAAAAAAAAAAAGTGT CAAAAAAAAAAAGTGT 17.99 . AB=0.121212;ABP=85.263;AC=1;AF=0.5;AN=2;AO=8;CIGAR=1M1D15M;DP=66;DPB=63.8824;DPRA=0;EPP=4.09604;EPPR=26.3669;GTI=0;LEN=1;MEANALT=9;MQM=42;MQMR=41.0732;NS=1;NUMALT=1;ODDS=4.12746;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=299;QR=1398;RO=41;RPL=2;RPP=7.35324;RPPR=3.48696;RPR=6;RUN=1;SAF=5;SAP=4.09604;SAR=3;SF=24;SRF=17;SRP=5.60547;SRR=24;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs4148680;CLNALLELEID=44299;CLNDN=Cardiomyopathy|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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=.;ExAC_nontcga_ALL=0.3717;ExAC_nontcga_AFR=0.3750;ExAC_nontcga_AMR=0.3922;ExAC_nontcga_EAS=0.3803;ExAC_nontcga_FIN=0.3016;ExAC_nontcga_NFE=0.3692;ExAC_nontcga_OTH=0.3755;ExAC_nontcga_SAS=0.3841;AF=0.0407;AF_popmax=0.0956;AF_male=0.0418;AF_female=0.0392;AF_raw=0.0461;AF_afr=0.0956;AF_sas=.;AF_amr=0.0368;AF_eas=0;AF_nfe=0.0085;AF_fin=0.0898;AF_asj=0.0046;AF_oth=0.0342;non_topmed_AF_popmax=0.0957;non_neuro_AF_popmax=0.0916;non_cancer_AF_popmax=.;controls_AF_popmax=0.1026;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\x3d99.016850;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-11.2158,0,-105.83:66:41:8:299:1398:41,8 . . . . . . . . . . . . +chr12 21965027 . A C 1896.45 . AB=0.637168;ABP=21.4774;AC=1;AF=0.5;AN=2;AO=72;CIGAR=1X;DP=113;DPB=113;DPRA=0;EPP=23.398;EPPR=7.30028;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=214.409;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2722;QR=1579;RO=41;RPL=33;RPP=4.09604;RPPR=3.06326;RPR=39;RUN=1;SAF=48;SAP=20.3821;SAR=24;SF=14;SRF=28;SRP=14.9269;SRR=13;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon34:c.T4167G:p.L1389L,ABCC9:NM_020297:exon34:c.T4167G:p.L1389L;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs565927065;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.43e-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\x3d99.164585;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-201.617,0,-102.433:113:41:72:2722:1579 . . . . . . . . . . . . . . . . . . . . . . +chr12 21995312 . C T 4771.55 . AB=0.524217;ABP=4.79821;AC=1;AF=0.5;AN=2;AO=184;CIGAR=1X;DP=351;DPB=351;DPRA=0;EPP=4.70971;EPPR=3.12874;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.5515;NS=1;NUMALT=1;ODDS=953.249;PAIRED=0.994565;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6858;QR=6111;RO=165;RPL=116;RPP=30.2009;RPPR=4.60271;RPR=68;RUN=1;SAF=96;SAP=3.76559;SAR=88;SF=12;SRF=80;SRP=3.33931;SRR=85;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ABCC9:NM_005691:exon27:c.G3409A:p.V1137I,ABCC9:NM_020297:exon27:c.G3409A:p.V1137I;1000g2015aug_all=0.00499201;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs147895473;CLNALLELEID=54576;CLNDN=Dilated_cardiomyopathy_1O|not_specified|not_provided;CLNDISDB=MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.599;SIFT_converted_rankscore=0.064;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.012;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=0.002;LRT_converted_rankscore=0.371;LRT_pred=N;MutationTaster_score=0.802;MutationTaster_converted_rankscore=0.301;MutationTaster_pred=N;MutationAssessor_score=-0.45;MutationAssessor_score_rankscore=0.028;MutationAssessor_pred=N;FATHMM_score=-2.49;FATHMM_converted_rankscore=0.892;FATHMM_pred=D;PROVEAN_score=-0.2;PROVEAN_converted_rankscore=0.125;PROVEAN_pred=N;VEST3_score=0.062;VEST3_rankscore=0.049;MetaSVM_score=-0.805;MetaSVM_rankscore=0.549;MetaSVM_pred=T;MetaLR_score=0.192;MetaLR_rankscore=0.545;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=0.881;CADD_raw_rankscore=0.178;CADD_phred=9.951;DANN_score=0.755;DANN_rankscore=0.107;fathmm-MKL_coding_score=0.365;fathmm-MKL_coding_rankscore=0.253;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.804;Eigen-PC-raw=-0.619;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.046;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=3.41;GERP++_RS_rankscore=0.380;phyloP100way_vertebrate=0.468;phyloP100way_vertebrate_rankscore=0.216;phyloP20way_mammalian=0.919;phyloP20way_mammalian_rankscore=0.430;phastCons100way_vertebrate=0.051;phastCons100way_vertebrate_rankscore=0.212;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=11.467;SiPhy_29way_logOdds_rankscore=0.493;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=0.0022;ExAC_nontcga_AFR=0.0229;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0064;AF_popmax=0.0225;AF_male=0.0064;AF_female=0.0063;AF_raw=0.0064;AF_afr=0.0225;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=0.0226;non_neuro_AF_popmax=0.0216;non_cancer_AF_popmax=.;controls_AF_popmax=0.0230;Kaviar_AF=0.0020569;Kaviar_AC=318;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.196496;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-487.421,0,-421.41:351:165:184:6858:6111:165,184 . . . . . . . . . . . . . . . . . . . . . . . . +chr12 21995409 . T G 2540.53 . AB=0.474886;ABP=4.21006;AC=1;AF=0.5;AN=2;AO=104;CIGAR=1X;DP=219;DPB=219;DPRA=0;EPP=73.2491;EPPR=85.9834;GTI=0;LEN=1;MEANALT=2;MQM=41.9231;MQMR=41.8421;NS=1;NUMALT=1;ODDS=584.978;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3889;QR=4202;RO=114;RPL=67;RPP=21.8019;RPPR=10.6295;RPR=37;RUN=1;SAF=46;SAP=6.01695;SAR=58;SF=25;SRF=49;SRP=7.88659;SRR=65;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201147809;CLNALLELEID=241532;CLNDN=Dilated_cardiomyopathy_1O;CLNDISDB=MedGen:C1837839,OMIM:608569;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=0.0009;dbscSNV_RF_SCORE=0.052;esp6500siv2_ea=0.0006;ExAC_nontcga_ALL=6.592e-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=0.0001;AF_popmax=0.0002;AF_male=0;AF_female=0.0003;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=.;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\x3d99.183305;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-270.291,0,-297.477:219:114:104:3889:4202:114,104 . . . . . . . . . . . +chr12 22005167 . C T 1346.92 . AB=0.54717;ABP=5.05886;AC=1;AF=0.5;AN=2;AO=58;CIGAR=1X;DP=106;DPB=106;DPRA=0;EPP=5.40641;EPPR=21.1059;GTI=0;LEN=1;MEANALT=1;MQM=41.9655;MQMR=41.9583;NS=1;NUMALT=1;ODDS=243.656;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1997;QR=1683;RO=48;RPL=28;RPP=3.16006;RPPR=3.19126;RPR=30;RUN=1;SAF=37;SAP=12.5947;SAR=21;SF=26;SRF=31;SRP=11.8771;SRR=17;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-142.157,0,-114.68:106:48:58:1997:1683 . . . . . . . . . . +chr12 22016003 . AGAAAAAAAAAAACACCAGG AGAAAAAAAAAACACCAGG 368.38 . AB=0.555556;ABP=3.9754;AC=1;AF=0.5;AN=2;AO=20;CIGAR=2M1D17M;DP=36;DPB=34.95;DPRA=0;EPP=18.6449;EPPR=3.17734;GTI=0;LEN=1;MEANALT=4;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=54.668;PAIRED=1;PAIREDR=0.923077;PAO=0;PQA=0;PQR=0;PRO=0;QA=671;QR=460;RO=13;RPL=19;RPP=38.1882;RPPR=11.1951;RPR=1;RUN=1;SAF=5;SAP=13.8677;SAR=15;SF=0;SRF=3;SRP=11.1951;SRR=10;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 0/1:-48.899,0,-30.5106:36:13:20:671:460:13,20 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 22016004 . GAAAAAAAAAAACACCAGG GAAAAAAAAAACACCAGG 670.95 . AB=0;ABP=0;AC=23;AF=1;AN=36;AO=32;CIGAR=1M1D11M;DP=896;DPB=32.4615;DPRA=0;EPP=12.7819;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.9375;MQMR=42;NS=1;NUMALT=1;ODDS=45.0231;PAIRED=1;PAIREDR=1;PAO=1;PQA=36.5;PQR=36.5;PRO=1;QA=1082;QR=33;RO=1;RPL=28;RPP=42.0968;RPPR=5.18177;RPR=4;RUN=1;SAF=8;SAP=20.3821;SAR=24;SF=2,4,5,7,8,9,15,16,17,19,20,21,23,25,28,30,31,32;SRF=0;SRP=5.18177;SRR=1;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD . . 1/1:.,.,0:34:1:32:1082:33 . 0/1:.,.,-33.9872:40:14:21:729:509 0/1:-27.759,0,-57.0827:42:22:13:438:773:22,13 . 0/1:.,.,-55.9643:55:23:31:1060:851 0/1:.,.,-51.149:44:20:23:772:738 0/1:-46.2432,0,-39.5377:37:16:19:648:572:16,19 . . . . . 0/1:.,.,-78.502:58:31:24:768:1137 0/1:-56.7804,0,-65.5304:50:25:25:823:922:25,25 0/1:.,.,-43.1509:41:17:21:699:625 . 1/1:.,.,0:49:2:46:1545:76 0/1:-69.0235,0,-69.309:59:27:29:992:998:27,29 0/1:-46.4452,0,-49.8355:47:20:22:672:714:20,22 . 0/1:.,.,-58.751:53:23:28:966:850 . 1/1:-270.679,-26.4849,0:100:1:96:3134:38:1,96 . . 1/1:.,.,0:46:0:45:1397:0 . 0/1:.,.,-48.0302:55:20:30:989:729 0/1:.,.,-46.8206:44:19:24:771:674 1/1:.,.,0:42:0:41:1246:0 . . . . +chr12 22017410 . C T 824.95 . AB=0.464789;ABP=3.7749;AC=2;AF=0.5;AN=4;AO=33;CIGAR=1X;DP=149;DPB=71;DPRA=0;EPP=3.60252;EPPR=3.23888;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=181.31;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1241;QR=1440;RO=38;RPL=24;RPP=17.8158;RPPR=5.06748;RPR=9;RUN=1;SAF=15;SAP=3.60252;SAR=18;SF=3,30;SRF=18;SRP=3.23888;SRR=20;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-86.0266,0,-103.176:71:38:33:1241:1440:38,33 . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-92.8848,0,-114.606:78:43:35:1346:1590 . . . . . . +chr12 22017422 . A G 2167.70 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=58;CIGAR=1X;DP=2556;DPB=59;DPRA=0;EPP=6.75422;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.6897;MQMR=0;NS=1;NUMALT=1;ODDS=85.0102;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2186;QR=0;RO=0;RPL=40;RPP=21.1309;RPPR=0;RPR=18;RUN=1;SAF=26;SAP=4.35811;SAR=32;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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=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:GL:DP:RO:AO:QA:QR:AD 1/1:-187.643,-17.4597,0:59:0:58:2186:0:0,58 1/1:-96.4711,-8.72987,0:29:0:29:1115:0 1/1:-161.57,-15.0515,0:50:0:50:1868:0 1/1:-224.198,-20.47,0:68:0:68:2596:0:0,68 1/1:-206.355,-18.9649,0:63:0:63:2401:0 1/1:-167.321,-15.6536,0:52:0:52:1936:0:0,52 1/1:-223.324,-20.7711,0:69:0:69:2582:0:0,69 1/1:-253.828,-23.7814,0:79:0:79:2939:0 1/1:-126.7,-12.0412,0:40:0:40:1473:0 1/1:-115.863,-10.5361,0:35:0:35:1338:0:0,35 1/1:-170.087,-15.3525,0:51:0:51:1971:0:0,51 1/1:-358.821,-34.6185,0:115:0:115:4169:0 1/1:-369.571,-34.0164,0:113:0:113:4278:0:0,113 1/1:-327.069,-29.802,0:99:0:99:3786:0 1/1:-161.555,-15.0515,0:50:0:50:1868:0 1/1:-301.857,-28.8989,0:97:0:96:3545:0 1/1:-295.323,-26.7917,0:89:0:89:3428:0:0,89 1/1:-249.788,-23.1793,0:77:0:77:2890:0 1/1:-149.193,-13.5464,0:45:0:45:1726:0 1/1:-211.281,-19.567,0:65:0:65:2444:0 1/1:-245.814,-22.5773,0:75:0:75:2846:0:0,75 1/1:-226.029,-22.2762,0:74:0:74:2603:0:0,74 1/1:-227.254,-21.9752,0:73:0:73:2619:0 1/1:-267.671,-24.3834,0:81:0:81:3104:0 1/1:-109.794,-9.93399,0:33:0:33:1269:0:0,33 1/1:-376.923,-35.5215,0:118:0:118:4360:0:0,118 1/1:-288.253,-28.5979,0:96:0:95:3326:0 1/1:-296.714,-27.9958,0:93:0:93:3424:0:0,93 1/1:-206.987,-19.2659,0:64:0:64:2390:0 1/1:-337.279,-33.1133,0:110:0:110:3897:0 1/1:-230.511,-21.3731,0:71:0:71:2666:0 1/1:-255.876,-23.7814,0:79:0:79:2956:0 1/1:-186.177,-17.1587,0:57:0:57:2163:0 1/1:-177.234,-16.5567,0:56:0:55:2048:0 1/1:-183.917,-16.8577,0:56:0:56:2126:0 1/1:-100.19,-9.0309,0:30:0:30:1159:0 1/1:-146.818,-13.5464,0:45:0:45:1708:0 +chr12 22017486 . C G 1020.00 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=26;CIGAR=1X;DP=1282;DPB=26;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.3077;MQMR=0;NS=1;NUMALT=1;ODDS=40.6488;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=949;QR=0;RO=0;RPL=20;RPP=19.3799;RPPR=0;RPR=6;RUN=1;SAF=7;SAP=15.0369;SAR=19;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-81.5382,-7.82678,0:26:0:26:949:0:0,26 1/1:-59.0537,-5.41854,0:18:0:18:678:0 1/1:-78.9104,-7.82678,0:26:0:26:905:0 1/1:-91.8927,-8.72987,0:29:0:29:1057:0:0,29 1/1:-102.254,-9.63296,0:32:0:32:1191:0 1/1:-96.356,-9.33193,0:31:0:31:1110:0:0,31 1/1:-98.4347,-9.0309,0:30:0:30:1133:0:0,30 1/1:-127.14,-12.3422,0:41:0:41:1463:0 1/1:-87.5484,-8.12781,0:27:0:27:1009:0 1/1:-65.3787,-6.0206,0:20:0:20:751:0:0,20 1/1:-79.8581,-7.52575,0:25:0:25:917:0:0,25 1/1:-186.546,-18.0618,0:61:0:60:2175:0 1/1:-184.584,-17.1587,0:57:0:57:2133:0:0,57 1/1:-137.6,-13.2453,0:44:0:44:1585:0 1/1:-78.9697,-7.22472,0:24:0:24:909:0 1/1:-145.993,-13.8474,0:46:0:46:1679:0 1/1:-153.546,-14.4494,0:48:0:48:1768:0:0,48 1/1:-114.49,-10.8371,0:36:0:36:1325:0 1/1:-86.367,-8.42884,0:28:0:28:991:0 1/1:-95.7292,-9.0309,0:30:0:30:1100:0 1/1:-127.944,-12.0412,0:40:0:40:1473:0:0,40 1/1:-100.756,-9.93399,0:33:0:33:1153:0:0,33 1/1:-135.61,-12.9443,0:43:0:43:1559:0 1/1:-108.098,-9.93399,0:33:0:33:1245:0 1/1:-52.2906,-4.81648,0:16:0:16:600:0:0,16 1/1:-161.066,-15.3525,0:51:0:51:1854:0:0,51 1/1:-175.641,-17.7608,0:59:0:59:2028:0 1/1:-158.949,-14.7505,0:49:0:49:1834:0:0,49 1/1:-102.708,-9.63296,0:32:0:32:1182:0 1/1:-185.096,-17.7608,0:59:0:59:2130:0 1/1:-122.169,-11.1381,0:38:0:37:1413:0 1/1:-98.0529,-9.33193,0:31:0:31:1127:0 1/1:-96.8408,-9.0309,0:30:0:30:1115:0 1/1:-71.029,-7.22472,0:24:0:24:811:0 1/1:-88.03,-8.12781,0:27:0:27:1012:0 1/1:-46.8464,-4.21442,0:14:0:14:539:0 1/1:-73.7364,-7.22472,0:24:0:24:855:0 +chr12 22059054 . A G 372.41 . AB=0.486486;ABP=3.06899;AC=1;AF=0.5;AN=2;AO=18;CIGAR=1X;DP=37;DPB=37;DPRA=0;EPP=3.49285;EPPR=3.12459;GTI=0;LEN=1;MEANALT=1;MQM=40.9444;MQMR=42;NS=1;NUMALT=1;ODDS=85.7514;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=632;QR=707;RO=19;RPL=4;RPP=15.074;RPPR=16.8392;RPR=14;RUN=1;SAF=12;SAP=7.35324;SAR=6;SF=5;SRF=14;SRP=12.2676;SRR=5;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs769869371;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9939;dbscSNV_RF_SCORE=0.844;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.833e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.04e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.844e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.099e-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=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1633617|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.623681;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-43.9923,0,-50.5463:37:19:18:632:707:19,18 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 22061007 . T G 796.20 . AB=0.432099;ABP=6.2541;AC=1;AF=0.5;AN=2;AO=35;CIGAR=1X;DP=81;DPB=81;DPRA=0;EPP=16.9698;EPPR=9.80795;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=183.332;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1312;QR=1772;RO=46;RPL=8;RPP=25.4075;RPPR=15.095;RPR=27;RUN=1;SAF=14;SAP=6.05036;SAR=21;SF=17;SRF=22;SRP=3.19912;SRR=24;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376587222;CLNALLELEID=510363;CLNDN=Cardiovascular_phenotype;CLNDISDB=MedGen:CN230736;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=0.9995;dbscSNV_RF_SCORE=0.92;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=7.872e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=9.268e-05;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=0.0012;AF_male=5.723e-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=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\x3d99.532315;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-89.6024,0,-128.66:81:46:35:1312:1772 . . . . . . . . . . . . . . . . . . . +chr12 22063115 . A G 4173.59 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=89;CIGAR=1X;DP=4988;DPB=89;DPRA=0;EPP=3.0347;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9775;MQMR=0;NS=1;NUMALT=1;ODDS=127.985;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3336;QR=0;RO=0;RPL=37;RPP=8.49998;RPPR=0;RPR=52;RUN=1;SAF=46;SAP=3.22989;SAR=43;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-288.914,-26.7917,0:89:0:89:3336:0:0,89 1/1:-227.802,-21.0721,0:70:0:70:2630:0 1/1:-436.686,-39.9432,0:138:1:137:5064:16 1/1:-416.029,-39.4349,0:131:0:131:4834:0:0,131 1/1:-401.263,-37.6288,0:125:0:125:4648:0 1/1:-410.08,-37.8366,0:131:1:130:4769:16:1,130 1/1:-287.844,-26.7917,0:89:0:89:3327:0:0,89 1/1:-521.257,-47.7721,0:165:1:164:6045:19 1/1:-390.799,-37.9298,0:128:0:126:4546:0 1/1:-260.743,-24.9855,0:83:0:83:3003:0:0,83 1/1:-390.004,-35.328,0:123:1:122:4547:17:1,122 1/1:-535.874,-51.0813,0:175:1:174:6227:16 1/1:-724.193,-67.7318,0:226:0:225:8399:0:0,225 1/1:-635.474,-61.1091,0:204:0:203:7361:0 1/1:-273.644,-25.8886,0:86:0:86:3160:0 1/1:-496.071,-47.2617,0:157:0:157:5745:0 1/1:-503.353,-46.6384,0:162:1:160:5845:20:1,160 1/1:-498.755,-46.9607,0:157:0:156:5796:0 1/1:-270.369,-26.1896,0:88:0:87:3120:0 1/1:-363.052,-34.6185,0:115:0:115:4204:0 1/1:-562.745,-53.2823,0:177:0:177:6549:0:0,177 1/1:-247.589,-23.7814,0:80:0:79:2850:0:0,79 1/1:-336.238,-32.5112,0:109:0:108:3870:0 1/1:-484.117,-46.6597,0:155:0:155:5592:0 1/1:-283.514,-26.4906,0:88:0:88:3274:0:0,88 1/1:-601.071,-58.0988,0:193:0:193:6982:0:0,193 1/1:-521.769,-50.8741,0:170:0:169:6043:0 1/1:-591.803,-56.5936,0:188:0:188:6932:0:0,188 1/1:-351.06,-33.1133,0:110:0:110:4060:0 1/1:-722.926,-69.839,0:234:0:232:8403:0 1/1:-387.649,-37.0267,0:123:0:123:4484:0 1/1:-369.902,-36.4246,0:121:0:121:4297:0 1/1:-359.678,-35.2205,0:117:0:117:4159:0 1/1:-403.87,-38.2308,0:127:0:127:4689:0 1/1:-389.019,-36.7257,0:123:0:122:4512:0 1/1:-185.376,-18.0618,0:60:0:60:2136:0 1/1:-538.232,-51.4761,0:171:0:171:6214:0 +chr12 22063251 . CAAAAAAAAAAAAAAGAGTAC CAAAAAAAAAAAAAGAGTAC,CAAAAAAAAAAAAAAAGAGTAC 311.71 . AB=0.541667;ABP=3.73412;AC=23,1;AF=0.5;AN=44;AO=26;CIGAR=1M1D19M;DP=1032;DPB=45.9048;DPRA=0;EPP=8.35546;EPPR=3.0103;GTI=0;LEN=1;MEANALT=14;MQM=41.1923;MQMR=42;NS=1;NUMALT=1;ODDS=12.7432;PAIRED=1;PAIREDR=1;PAO=0.333333;PQA=4.66667;PQR=4.66667;PRO=0.333333;QA=857;QR=150;RO=4;RPL=19;RPP=15.0369;RPPR=3.0103;RPR=7;RUN=1;SAF=10;SAP=6.01695;SAR=16;SF=3,7,9,10,11,12,13,14,16,17,18,19,20,21,22,24,26,27,29,30,33,36;SRF=0;SRP=11.6962;SRR=4;TYPE=del;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517182;CLNALLELEID=54552;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,_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=0.0431;ExAC_nontcga_AFR=0.0618;ExAC_nontcga_AMR=0.0249;ExAC_nontcga_EAS=0.05;ExAC_nontcga_FIN=0.0313;ExAC_nontcga_NFE=0.0388;ExAC_nontcga_OTH=0.0682;ExAC_nontcga_SAS=0.0614;AF=0.0218;AF_popmax=0.0404;AF_male=0.0218;AF_female=0.0218;AF_raw=0.0170;AF_afr=0.0404;AF_sas=.;AF_amr=0.02;AF_eas=0.0100;AF_nfe=0.0137;AF_fin=0.0060;AF_asj=0.0111;AF_oth=0.0244;non_topmed_AF_popmax=0.0396;non_neuro_AF_popmax=0.0430;non_cancer_AF_popmax=.;controls_AF_popmax=0.0350;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-65.0963,0,-3.11484,.,.,.:48:4:26,.:857,.:150:4,26 . . . 0/1:.,.,-7.54623,.,.,.:46:8:26,.:831,.:285 . 0/1:-20.8792,0,-27.9776,.,.,.:30:11:10,.:309,.:391:11,10 0/1:-31.5172,0,-41.0515,.,.,.:52:16:13,.:459,.:583:16,13 0/1:.,.,-15.5131,.,.,.:57:11:26,.:757,.:399 0/1:-51.6369,0,-14.8002,.,.,.:63:12:25,.:854,.:431:12,25 0/1:.,.,-59.36,.,.,.:76:30:30,.:841,.:1034 1/1:.,.,0,.,.,.:18:0:15,.:355,.:0 . 0/1:-33.667,0,-42.0877,.,.,.:49:17:16,.:497,.:591:17,16 0/1:.,.,-18.9216,.,.,.:42:12:23,.:744,.:431 0/1:.,.,-16.4015,.,.,.:27:10:10,.:339,.:325 0/2:.,.,.,.,.,-21.8994:47:13:.,15:.,407:464 0/1:-30.2816,0,-18.499,.,.,.:39:8:14,.:423,.:287:8,14 0/1:-13.5305,0,-13.4496,.,.,.:32:9:12,.:319,.:321:9,12 0/1:.,.,-18.6361,.,.,.:51:13:21,.:562,.:465 . 0/1:-19.5762,0,-4.50706,.,.,.:25:3:12,.:276,.:102:3,12 . 0/1:.,.,-31.6209,.,.,.:65:18:33,.:1017,.:612 0/1:-30.303,0,-64.5421,.,.,.:74:26:16,.:503,.:906:26,16 . 0/1:.,.,-39.4965,.,.,.:79:21:41,.:1258,.:743 0/1:.,.,-16.3976,.,.,.:36:10:16,.:476,.:355 . . 0/1:.,.,-26.5767,.,.,.:33:12:12,.:345,.:428 . . 1/1:.,.,0,.,.,.:43:6:27,.:839,.:211 +chr12 22063749 . T C 1458.09 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=48;CIGAR=1X;DP=1876;DPB=49;DPRA=0;EPP=11.8771;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.5625;MQMR=0;NS=1;NUMALT=1;ODDS=71.1473;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1762;QR=0;RO=0;RPL=12;RPP=29.068;RPPR=0;RPR=36;RUN=1;SAF=33;SAP=17.6677;SAR=15;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-152.679,-14.4494,0:49:0:48:1762:0:0,48 1/1:-47.0681,-4.51545,0:15:0:15:538:0 1/1:-150.579,-14.7505,0:49:0:49:1731:0 1/1:-162.993,-15.6536,0:52:0:52:1878:0:0,52 1/1:-125.026,-11.7402,0:39:0:39:1443:0 1/1:-135.913,-13.2453,0:44:0:44:1579:0:0,44 1/1:-105.226,-10.5361,0:35:0:35:1233:0:0,35 1/1:-218.374,-20.7711,0:70:0:69:2539:0 1/1:-83.183,-7.82678,0:26:0:26:957:0 1/1:-121.149,-11.4391,0:38:0:38:1408:0:0,38 1/1:-153.672,-14.4494,0:48:0:48:1781:0:0,48 1/1:-191.625,-18.3628,0:61:0:61:2216:0 1/1:-258.686,-24.0824,0:80:0:80:2999:0:0,80 1/1:-195.858,-19.2659,0:64:0:64:2263:0 1/1:-119.806,-11.4391,0:38:0:38:1377:0 1/1:-203.325,-19.567,0:65:0:65:2342:0 1/1:-152.465,-14.1484,0:47:0:47:1759:0:0,47 1/1:-184.62,-17.1587,0:58:0:57:2136:0 1/1:-116.662,-11.1381,0:37:0:37:1342:0 1/1:-127.805,-12.0412,0:40:0:40:1468:0 1/1:-191.3,-18.6639,0:62:0:62:2197:0:0,62 1/1:-101.656,-9.63296,0:32:0:32:1168:0:0,32 1/1:-134.835,-13.2453,0:44:0:44:1548:0 1/1:-172.251,-16.8577,0:56:0:56:1981:0 1/1:-95.9927,-9.0309,0:30:0:30:1104:0:0,30 1/1:-269.19,-23.8323,0:87:2:84:3133:30:2,84 1/1:-271.06,-26.1896,0:87:0:87:3135:0 1/1:-282.412,-27.0927,0:92:0:90:3257:0:0,90 1/1:-145.847,-14.4494,0:48:0:48:1684:0 1/1:-233.089,-22.5773,0:76:0:75:2685:0 1/1:-154.072,-15.3525,0:51:0:51:1786:0 1/1:-130.424,-12.9443,0:43:0:43:1494:0 1/1:-119.827,-11.1381,0:37:0:37:1383:0 1/1:-138.514,-13.5464,0:45:0:45:1591:0 1/1:-142.309,-13.2453,0:45:0:44:1645:0 1/1:-77.752,-7.22472,0:24:0:24:893:0 1/1:-195.564,-18.6639,0:62:0:62:2248:0 +chr12 22066006 . GAAAAAAAAAAGAAAAAAAAAACAGATGT GAAAAAAAAAGAAAAAAAAAACAGATGT 945.08 . AB=0.4125;ABP=8.33041;AC=3;AF=0.5;AN=6;AO=33;CIGAR=1M1D27M;DP=297;DPB=78.6897;DPRA=0;EPP=10.9724;EPPR=5.18177;GTI=0;LEN=1;MEANALT=10;MQM=42;MQMR=41.5;NS=1;NUMALT=1;ODDS=156.52;PAIRED=1;PAIREDR=1;PAO=0.5;PQA=19.5;PQR=19.5;PRO=0.5;QA=1116;QR=1320;RO=36;RPL=15;RPP=3.60252;RPPR=3.9754;RPR=18;RUN=1;SAF=24;SAP=17.8158;SAR=9;SF=9,20,33;SRF=13;SRP=9.04217;SRR=23;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ABCC9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs193922684;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0120;ExAC_nontcga_AFR=0.0044;ExAC_nontcga_AMR=0.0083;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0171;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0104;AF=0.0104;AF_popmax=0.0163;AF_male=0.0107;AF_female=0.0100;AF_raw=0.0072;AF_afr=0.0027;AF_sas=.;AF_amr=0.0117;AF_eas=0;AF_nfe=0.0163;AF_fin=0.0092;AF_asj=0.0180;AF_oth=0.0031;non_topmed_AF_popmax=0.0146;non_neuro_AF_popmax=0.0176;non_cancer_AF_popmax=.;controls_AF_popmax=0.0165;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\x3d98.559459;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-75.936,0,-92.511:80:36:33:1116:1320:36,33 . . . . . . . . . . 0/1:-110.18,0,-133.305:124:51:47:1615:1876:51,47 . . . . . . . . . . . . 0/1:.,.,-84.6482:93:36:47:1715:1320 . . . +chr12 22068849 . G T 2045.23 . AB=0;ABP=0;AC=49;AF=1;AN=70;AO=104;CIGAR=1X;DP=3723;DPB=104;DPRA=0;EPP=5.09825;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8269;MQMR=0;NS=1;NUMALT=1;ODDS=148.78;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3937;QR=0;RO=0;RPL=86;RPP=99.5573;RPPR=0;RPR=18;RUN=1;SAF=45;SAP=7.10269;SAR=59;SF=0,1,2,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-340.151,-31.3071,0:104:0:104:3937:0:0,104 1/1:-163.671,-15.0515,0:50:0:50:1893:0 1/1:-310.032,-29.1999,0:97:0:97:3596:0 . 1/1:-268.655,-24.3834,0:81:0:81:3114:0 1/1:-355.866,-33.4143,0:111:0:111:4121:0:0,111 1/1:-223.476,-20.47,0:68:0:68:2586:0:0,68 0/1:-130.712,0,-139.517:103:53:50:1870:1967 0/1:-155.54,0,-92.8988:93:37:56:2124:1397 0/1:-85.3826,0,-115.932:79:44:35:1273:1612:44,35 0/1:-149.809,0,-76.4992:85:31:54:2037:1177:31,54 0/1:-229.96,0,-169.151:158:69:89:3202:2495 0/1:-223.679,0,-219.877:168:83:85:3173:3159:83,85 0/1:-220.158,0,-206.746:165:80:85:3118:2961 0/1:-76.3291,0,-119.394:74:44:30:1136:1635 1/1:-429.615,-32.7362,0:141:4:137:5101:109 0/1:-156.415,0,-114.412:103:46:57:2183:1688:46,57 0/1:-174.136,0,-169.333:131:64:67:2502:2418 0/1:-97.0833,0,-87.4022:75:37:38:1378:1263 0/1:-139.565,0,-114.048:97:44:52:1952:1655 0/1:-213.157,0,-130.509:129:53:76:2920:1959:53,76 0/1:-103.865,0,-90.5801:78:37:41:1464:1310:37,41 0/1:-120.953,0,-89.6393:83:37:46:1680:1318 1/1:-366.244,-34.3174,0:114:0:114:4271:0 0/1:-89.1875,0,-63.1469:57:25:32:1229:925:25,32 1/1:-645.845,-61.4101,0:204:0:204:7481:0:0,204 0/1:-136.045,0,-184.252:130:72:58:2016:2571 0/1:-200.061,0,-224.384:162:84:77:2874:3159:84,77 1/1:-250.565,-23.7814,0:79:0:79:2894:0 0/1:-237.731,0,-251.402:185:94:91:3386:3562 0/1:-120.978,0,-100.301:86:39:45:1698:1452 1/1:-368.72,-28.6566,0:118:2:116:4344:75 1/1:-266.014,-25.2865,0:84:0:84:3097:0 0/1:-96.2726,0,-125.029:87:47:40:1409:1743 1/1:-279.259,-25.5876,0:85:0:85:3249:0 1/1:-191.132,-17.7608,0:59:0:59:2208:0 . +chr12 32945486 . G T 2147.50 . AB=0.57732;ABP=8.04722;AC=3;AF=0.5;AN=6;AO=56;CIGAR=1X;DP=561;DPB=97;DPRA=0;EPP=21.778;EPPR=41.6201;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=208.394;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2097;QR=1501;RO=41;RPL=43;RPP=37.909;RPPR=5.60547;RPR=13;RUN=1;SAF=28;SAP=3.0103;SAR=28;SF=1,3,36;SRF=21;SRP=3.06326;SRR=20;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD . 0/1:-152.546,0,-101.162:97:41:56:2097:1501 . 0/1:-238.823,0,-329.907:218:123:95:3512:4568:123,95 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-289.571,0,-342.274:246:132:114:4195:4804 +chr12 32945495 . C T 5085.08 . AB=0.478632;ABP=3.93828;AC=43;AF=0.5;AN=60;AO=112;CIGAR=1X;DP=7654;DPB=234;DPRA=0;EPP=47.6806;EPPR=46.0988;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9835;NS=1;NUMALT=1;ODDS=636.665;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4179;QR=4349;RO=121;RPL=76;RPP=34.0313;RPPR=24.9942;RPR=36;RUN=1;SAF=48;SAP=7.97367;SAR=64;SF=0,1,2,3,4,5,6,8,10,11,12,13,14,15,17,18,20,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=56;SRP=4.46393;SRR=65;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-291.436,0,-307.455:234:121:112:4179:4349:121,112 0/1:-155.019,0,-95.102:96:39:57:2118:1425 0/1:-341.472,0,-313.628:270:133:136:4900:4554 0/1:-233.65,0,-328.311:216:123:93:3453:4533:123,93 1/1:-801.757,-76.1606,0:256:0:253:9317:0 0/1:-367.907,0,-411.869:304:158:145:5348:5838:158,145 0/1:-237.893,0,-260.408:193:100:93:3420:3666:100,93 . 0/1:-267.201,0,-237.936:196:94:102:3771:3425 . 0/1:-296.882,0,-300.805:233:119:113:4243:4304:119,113 1/1:-1155.67,-109.29,0:376:1:373:13422:38 1/1:-1030.63,-96.6306,0:323:0:321:11984:0:0,321 1/1:-1079.15,-100.734,0:347:1:346:12538:39 1/1:-638.529,-60.206,0:200:0:200:7377:0 0/1:-308.958,0,-340.308:258:133:125:4483:4818 . 0/1:-334.437,0,-341.293:264:135:128:4800:4855 0/1:-171.352,0,-229.124:157:87:70:2511:3185 . 1/1:-936.41,-86.9977,0:289:0:289:10855:0:0,289 . . . 1/1:-294.265,-27.9958,0:93:0:93:3394:0:0,93 0/1:-494.5,0,-636.559:450:249:196:7264:8919:249,196 0/1:-406.621,0,-504.961:372:202:168:5979:7086 0/1:-546.612,0,-510.784:416:205:211:7763:7323:205,211 0/1:-246.098,0,-300.752:217:117:100:3598:4221 1/1:-1325.86,-124.494,0:432:2:427:15540:53 1/1:-728.619,-68.3338,0:228:0:227:8423:0 1/1:-676.092,-62.7204,0:213:1:212:7830:14 1/1:-723.164,-68.3338,0:227:0:227:8352:0 1/1:-639.118,-59.6039,0:198:0:198:7386:0 0/1:-340.301,0,-239.59:224:98:126:4707:3548 1/1:-409.339,-38.2308,0:127:0:127:4726:0 0/1:-285.98,0,-340.301:245:131:113:4151:4770 +chr12 32949029 . ACT AGCT 3343.41 . AB=0.516949;ABP=3.30474;AC=8;AF=0.5;AN=14;AO=61;CIGAR=1M1I1M;DP=1790;DPB=149.5;DPRA=0;EPP=4.7546;EPPR=3.19126;GTI=0;LEN=1;MEANALT=2;MQM=41.6721;MQMR=42;NS=1;NUMALT=1;ODDS=256.113;PAIRED=0;PAIREDR=0;PAO=1;PQA=0;PQR=0;PRO=1;QA=2135;QR=1796;RO=48;RPL=23;RPP=11.0198;RPPR=24.906;RPR=38;RUN=1;SAF=38;SAP=11.0198;SAR=23;SF=1,3,7,17,21,34,36;SRF=34;SRP=21.1059;SRR=14;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . 0/1:.,.,-121.57:118:48:61:2135:1796 . 1/1:-794.76,-75.2728,0:272:1:260:9209:38:1,260 . . . 0/1:.,.,-428.676:345:170:165:5974:6199 . . . . . . . . . 0/1:.,.,-380.348:305:147:146:5164:5455 . . . 0/1:-55.5702,0,-351.488:164:125:36:1196:4613:125,36 . . . . . . . . . . . . 0/1:.,.,-370.297:265:142:116:4227:5246 . 0/1:.,.,-407.629:321:156:155:5541:5833 +chr12 32949251 . AACA AAA,AAAA 4252.72 . AB=0.614634,0.239024;ABP=26.4092,124.284;AC=1,1;AF=0.5,0.5;AN=2;AO=126,49;CIGAR=2M1D1M,2M1X1M;DP=205;DPB=160.25;DPRA=0,0;EPP=25.3454,45.5977;EPPR=3.0103;GTI=0;LEN=1,1;MEANALT=4,4;MQM=40.7302,39.0408;MQMR=42;NS=1;NUMALT=2;ODDS=152.343;PAIRED=0.960317,1;PAIREDR=1;PAO=0,0;PQA=0,0;PQR=0;PRO=0;QA=4229,1693;QR=75;RO=2;RPL=55,15;RPP=7.42218,19.0083;RPPR=7.35324;RPR=71,34;RUN=1,1;SAF=62,18;SAP=3.07924,10.4997;SAR=64,31;SF=3;SRF=1;SRP=3.0103;SRR=1;TYPE=del,snp;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs201732222;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0378;ExAC_nontcga_AFR=0.0646;ExAC_nontcga_AMR=0.0305;ExAC_nontcga_EAS=0.2090;ExAC_nontcga_FIN=0.0209;ExAC_nontcga_NFE=0.0203;ExAC_nontcga_OTH=0.0294;ExAC_nontcga_SAS=0.0582;AF=0.0037;AF_popmax=0.0084;AF_male=0.0038;AF_female=0.0035;AF_raw=0.0065;AF_afr=0.0084;AF_sas=.;AF_amr=0.0074;AF_eas=0.0007;AF_nfe=0.0007;AF_fin=0.0055;AF_asj=0;AF_oth=0.0050;non_topmed_AF_popmax=0.0084;non_neuro_AF_popmax=0.0077;non_cancer_AF_popmax=.;controls_AF_popmax=0.0174;Kaviar_AF=0.0267332;Kaviar_AC=4133;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:GL:DP:RO:AO:QA:QR:AD . . . 1/2:-450.675,-124.962,-92.9344,-320.426,0,-311.578:205:2:126,49:4229,1693:75:2,126,49 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 32949252 . ACA AA 1402.90 . AB=0.315789;ABP=25.4108;AC=5;AF=0.5;AN=10;AO=24;CIGAR=1M1D1M;DP=1101;DPB=68;DPRA=0;EPP=8.80089;EPPR=39.7082;GTI=0;LEN=1;MEANALT=2;MQM=41.75;MQMR=42;NS=1;NUMALT=1;ODDS=107.15;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=839;QR=1494;RO=40;RPL=10;RPP=4.45795;RPPR=8.43898;RPR=14;RUN=1;SAF=14;SAP=4.45795;SAR=10;SF=1,7,17,34,36;SRF=20;SRP=3.0103;SRR=20;TYPE=del;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:GL:DP:RO:AO:QA:QR . 0/1:-53.624,0,-110.236:76:40:24:839:1494 . . . . . 0/1:-211.152,0,-392.175:273:149:98:3314:5403 . . . . . . . . . 0/1:-203.276,0,-323.69:248:121:91:3097:4481 . . . . . . . . . . . . . . . . 0/1:-136.653,0,-336.574:211:125:68:2358:4516 . 0/1:-165.077,0,-498.995:293:181:85:2815:6692 +chr12 32955330 . G A 2833.35 . AB=0.519824;ABP=3.78514;AC=1;AF=0.5;AN=2;AO=118;CIGAR=1X;DP=227;DPB=227;DPRA=0;EPP=3.08391;EPPR=10.2021;GTI=0;LEN=1;MEANALT=1;MQM=41.8475;MQMR=41.633;NS=1;NUMALT=1;ODDS=547.22;PAIRED=0.991525;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4306;QR=3804;RO=109;RPL=26;RPP=83.1708;RPPR=127.342;RPR=92;RUN=1;SAF=86;SAP=56.6714;SAR=32;SF=11;SRF=75;SRP=36.4988;SRR=34;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0716853;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs74072938;CLNALLELEID=54231;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=0;dbscSNV_RF_SCORE=0.006;esp6500siv2_ea=0.0117;ExAC_nontcga_ALL=0.0332;ExAC_nontcga_AFR=0.1919;ExAC_nontcga_AMR=0.0174;ExAC_nontcga_EAS=0.0020;ExAC_nontcga_FIN=0.0092;ExAC_nontcga_NFE=0.0137;ExAC_nontcga_OTH=0.0274;ExAC_nontcga_SAS=0.0457;AF=0.0583;AF_popmax=0.1852;AF_male=0.0622;AF_female=0.0535;AF_raw=0.0585;AF_afr=0.1852;AF_sas=.;AF_amr=0.0272;AF_eas=0.0026;AF_nfe=0.0095;AF_fin=0.0061;AF_asj=0.0138;AF_oth=0.0212;non_topmed_AF_popmax=0.1843;non_neuro_AF_popmax=0.1849;non_cancer_AF_popmax=.;controls_AF_popmax=0.1803;Kaviar_AF=0.0303748;Kaviar_AC=4696;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.867019;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-304.037,0,-262.166:227:109:118:4306:3804 . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 32974352 . G A 2248.19 . AB=0.471366;ABP=4.62695;AC=1;AF=0.5;AN=2;AO=107;CIGAR=1X;DP=227;DPB=227;DPRA=0;EPP=4.65412;EPPR=3.29983;GTI=0;LEN=1;MEANALT=1;MQM=36.243;MQMR=40;NS=1;NUMALT=1;ODDS=517.665;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3887;QR=4461;RO=120;RPL=40;RPP=17.8047;RPPR=3.66174;RPR=67;RUN=1;SAF=56;SAP=3.51765;SAR=51;SF=14;SRF=61;SRP=3.08268;SRR=59;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-233.292,0,-307.543:227:120:107:3887:4461 . . . . . . . . . . . . . . . . . . . . . . +chr12 32974391 . CAA CA 2711.55 . AB=0.540541;ABP=6.70767;AC=1;AF=0.5;AN=2;AO=140;CIGAR=1M1D1M;DP=259;DPB=217.333;DPRA=0;EPP=6.05036;EPPR=5.21827;GTI=0;LEN=1;MEANALT=1;MQM=35.0143;MQMR=37.4202;NS=1;NUMALT=1;ODDS=599.176;PAIRED=0.985714;PAIREDR=0.991597;PAO=6.5;PQA=215;PQR=215;PRO=6.5;QA=4827;QR=4385;RO=119;RPL=79;RPP=8.03571;RPPR=3.17453;RPR=61;RUN=1;SAF=72;SAP=3.25847;SAR=68;SF=8;SRF=64;SRP=4.48836;SRR=55;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PKP2:NM_001005242:exon9:c.1910delT:p.I637fs,PKP2:NM_004572:exon10:c.2042delT:p.I681fs;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\x3d99.935709;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-279.172,0,-267.685:259:119:140:4827:4385 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 32996137 . GAA AAT 32.00 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X1M1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=3;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.36761;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=47;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=34;SRF=0;SRP=0;SRR=0;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=PKP2:NM_004572:exon6:c.1487_1489ATT;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\x3d99.680503;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-4.40383,-0.60206,0:2:0:2:47:0 . . +chr12 33021934 . A G 3972.65 . AB=0.557554;ABP=11.0088;AC=21;AF=0.5;AN=38;AO=155;CIGAR=1X;DP=5424;DPB=278;DPRA=0;EPP=3.36054;EPPR=3.65106;GTI=0;LEN=1;MEANALT=2;MQM=39.329;MQMR=41.6066;NS=1;NUMALT=1;ODDS=697.15;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5694;QR=4599;RO=122;RPL=113;RPP=73.6322;RPPR=13.2625;RPR=42;RUN=1;SAF=79;SAP=3.13639;SAR=76;SF=0,1,3,9,10,11,12,13,17,20,21,22,24,25,27,30,31,32,33;SRF=59;SRP=3.29508;SRR=63;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-385.312,0,-311.482:278:122:155:5694:4599:122,155 0/1:-122.294,0,-184.349:120:68:52:1940:2586 . 1/1:-986.755,-96.3296,0:320:0:320:11768:0:0,320 . . . . . 0/1:-311.057,0,-274.279:235:109:125:4620:4041:109,125 0/1:-372.863,0,-414.232:312:158:154:5698:5964:158,154 0/1:-505.833,0,-452.869:387:183:204:7388:6605 0/1:-512.536,0,-547.791:430:213:217:7973:7929:213,217 1/1:-1046.56,-95.989,0:350:3:347:12578:103 . . . 0/1:-468.544,0,-470.128:370:180:190:6980:6861 . . 0/1:-365.64,0,-540.051:352:200:152:5644:7607:200,152 0/1:-43.2885,0,-253.662:117:92:25:926:3356:92,25 0/1:-141.773,0,-237.855:151:90:61:2170:3299 . 0/1:-168.813,0,-238.215:159:88:71:2625:3353:88,71 0/1:-572.405,0,-524.923:446:208:238:8639:7676:208,238 . 0/1:-459.311,0,-435.633:359:172:186:6762:6304:172,186 . . 0/1:-297.634,0,-334.617:253:127:125:4520:4766 0/1:-244.613,0,-243.287:190:92:98:3530:3507 0/1:-353.325,0,-373.811:290:143:147:5328:5371 0/1:-388.571,0,-363.936:305:144:161:5874:5334 . . . +chr12 33030802 . T C 3005.45 . AB=0.505837;ABP=3.08634;AC=1;AF=0.5;AN=2;AO=130;CIGAR=1X;DP=257;DPB=257;DPRA=0;EPP=4.68066;EPPR=5.94613;GTI=0;LEN=1;MEANALT=3;MQM=38.2692;MQMR=41.392;NS=1;NUMALT=1;ODDS=692.031;PAIRED=1;PAIREDR=0.992;PAO=0;PQA=0;PQR=0;PRO=0;QA=4751;QR=4664;RO=125;RPL=49;RPP=20.1148;RPPR=8.03074;RPR=81;RUN=1;SAF=81;SAP=20.1148;SAR=49;SF=3;SRF=74;SRP=12.2;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-310.931,0,-323.496:257:125:130:4751:4664:125,130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 33030841 . CCGCCTGGCCGACAGT CCAGG 2292.25 . AB=0.3875;ABP=46.9826;AC=1;AF=0.5;AN=2;AO=155;CIGAR=1M11D3M1X;DP=400;DPB=293.125;DPRA=0;EPP=5.37791;EPPR=15.9917;GTI=0;LEN=5;MEANALT=13;MQM=27.4774;MQMR=38.5328;NS=1;NUMALT=1;ODDS=527.81;PAIRED=0.987097;PAIREDR=0.9869;PAO=8;PQA=142;PQR=0;PRO=2;QA=5774;QR=8123;RO=229;RPL=102;RPP=36.6471;RPPR=4.61283;RPR=53;RUN=1;SAF=85;SAP=6.16244;SAR=70;SF=25;SRF=133;SRP=15.9917;SRR=96;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_substitution;AAChange.refGene=PKP2:NM_001005242:exon3:c.958_971CCT,PKP2:NM_004572:exon3:c.958_971CCT;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=Name\x3dENSR00000454924|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.908730,99.816580;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-243.254,0,-559.791:400:229:155:5774:8123:229,155 . . . . . . . . . . . +chr12 33031884 . G T 1240.14 . AB=0.293233;ABP=52.3991;AC=2;AF=0.5;AN=4;AO=39;CIGAR=1X;DP=292;DPB=133;DPRA=0;EPP=12.42;EPPR=22.6469;GTI=0;LEN=1;MEANALT=2;MQM=41.9487;MQMR=41.3548;NS=1;NUMALT=1;ODDS=153.408;PAIRED=0;PAIREDR=0.0107527;PAO=0;PQA=0;PQR=0;PRO=0;QA=1375;QR=3314;RO=93;RPL=15;RPP=7.52028;RPPR=11.4393;RPR=24;RUN=1;SAF=27;SAP=15.538;SAR=12;SF=21,22;SRF=50;SRP=4.15441;SRR=43;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon2:c.C306A:p.S102S,PKP2:NM_004572:exon2:c.C306A:p.S102S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs376613662;CLNALLELEID=230323;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,_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=0.0005;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=0.0013;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=0.000401;Kaviar_AC=62;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.891962;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-80.0027,0,-244.657:133:93:39:1375:3314:93,39 0/1:-191.643,0,-189.302:159:80:78:2754:2720 . . . . . . . . . . . . . . +chr12 33049457 . C A 407.39 . AB=0.517857;ABP=3.16541;AC=1;AF=0.5;AN=2;AO=29;CIGAR=1X;DP=56;DPB=56;DPRA=0;EPP=15.6647;EPPR=12.7417;GTI=0;LEN=1;MEANALT=1;MQM=30.3793;MQMR=32.7778;NS=1;NUMALT=1;ODDS=83.86;PAIRED=1;PAIREDR=0.925926;PAO=0;PQA=0;PQR=0;PRO=0;QA=978;QR=864;RO=27;RPL=9;RPP=12.0706;RPPR=38.4777;RPR=20;RUN=1;SAF=20;SAP=12.0706;SAR=9;SF=10;SRF=20;SRP=16.6021;SRR=7;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=PKP2:NM_001005242:exon1:c.G209T:p.S70I,PKP2:NM_004572:exon1:c.G209T:p.S70I;1000g2015aug_all=0.0131789;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs75909145;CLNALLELEID=54224;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=0.008;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.279;Polyphen2_HDIV_rankscore=0.306;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.116;Polyphen2_HVAR_rankscore=0.303;Polyphen2_HVAR_pred=B;LRT_score=0.859;LRT_converted_rankscore=0.089;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=-1.47;FATHMM_converted_rankscore=0.811;FATHMM_pred=T;PROVEAN_score=-2.09;PROVEAN_converted_rankscore=0.476;PROVEAN_pred=N;VEST3_score=0.256;VEST3_rankscore=0.312;MetaSVM_score=-0.737;MetaSVM_rankscore=0.586;MetaSVM_pred=T;MetaLR_score=0.187;MetaLR_rankscore=0.538;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=3.446;CADD_raw_rankscore=0.472;CADD_phred=23.0;DANN_score=0.987;DANN_rankscore=0.438;fathmm-MKL_coding_score=0.633;fathmm-MKL_coding_rankscore=0.318;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.151;Eigen-PC-raw=-0.085;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=3.17;GERP++_RS_rankscore=0.354;phyloP100way_vertebrate=0.796;phyloP100way_vertebrate_rankscore=0.265;phyloP20way_mammalian=0.826;phyloP20way_mammalian_rankscore=0.337;phastCons100way_vertebrate=0.037;phastCons100way_vertebrate_rankscore=0.206;phastCons20way_mammalian=0.949;phastCons20way_mammalian_rankscore=0.424;SiPhy_29way_logOdds=7.581;SiPhy_29way_logOdds_rankscore=0.270;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0261;ExAC_nontcga_ALL=0.0235;ExAC_nontcga_AFR=0.0057;ExAC_nontcga_AMR=0.0140;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0.0189;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0197;ExAC_nontcga_SAS=0.0434;AF=0.0190;AF_popmax=0.0301;AF_male=0.0178;AF_female=0.0206;AF_raw=0.0191;AF_afr=0.0039;AF_sas=.;AF_amr=0.0200;AF_eas=0;AF_nfe=0.0301;AF_fin=0.0130;AF_asj=0.0276;AF_oth=0.0276;non_topmed_AF_popmax=0.0306;non_neuro_AF_popmax=0.0302;non_cancer_AF_popmax=.;controls_AF_popmax=0.0366;Kaviar_AF=0.0189131;Kaviar_AC=2924;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;ORegmiRNA=.;nCER95=Name\x3d99.931551;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-49.2835,0,-48.0318:56:27:29:978:864:27,29 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 33049590 . C T 1204.01 . AB=0.608108;ABP=10.5224;AC=2;AF=0.5;AN=4;AO=45;CIGAR=1X;DP=338;DPB=74;DPRA=0;EPP=4.21667;EPPR=3.08518;GTI=0;LEN=1;MEANALT=1;MQM=23.7556;MQMR=32.2414;NS=1;NUMALT=1;ODDS=120.105;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1606;QR=1090;RO=29;RPL=31;RPP=16.956;RPPR=3.08518;RPR=14;RUN=1;SAF=20;SAP=4.21667;SAR=25;SF=1,5;SRF=10;SRP=9.07545;SRR=19;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-66.448,0,-59.0508:74:29:45:1606:1090 . . . 0/1:-193.148,0,-269.592:264:134:130:4775:4942:134,130 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr12 98927830 . C G 5656.41 . AB=0.52967;ABP=6.48943;AC=7;AF=0.5;AN=14;AO=241;CIGAR=1X;DP=3078;DPB=455;DPRA=0;EPP=36.5375;EPPR=47.2109;GTI=0;LEN=1;MEANALT=1;MQM=41.5768;MQMR=41.8131;NS=1;NUMALT=1;ODDS=1244.55;PAIRED=0.987552;PAIREDR=0.995327;PAO=0;PQA=0;PQR=0;PRO=0;QA=8841;QR=8012;RO=214;RPL=144;RPP=22.914;RPPR=7.92148;RPR=97;RUN=1;SAF=136;SAP=11.6692;SAR=105;SF=2,10,12,15,17,23,24;SRF=128;SRP=20.9097;SRR=86;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-623.986,0,-554.822:455:214:241:8841:8012 . . . . . . . 0/1:-593.22,0,-510.862:417:195:222:8317:7377:195,222 . 0/1:-627.82,0,-793.742:535:292:243:9128:11062:292,243 . . 0/1:-622.012,0,-575.072:451:218:233:8787:8257 . 0/1:-646.645,0,-687.357:511:259:250:9270:9747 . . . . . 0/1:-648.349,0,-609.477:479:230:247:9175:8743 0/1:-298.916,0,-302.117:230:116:113:4285:4294:116,113 . . . . . . . . . . . . +chr12 98940228 . ATTCA ATTTCA 1063.43 . AB=0.5625;ABP=5.18177;AC=5;AF=0.5;AN=10;AO=36;CIGAR=1M1I4M;DP=529;DPB=71.2;DPRA=0;EPP=11.6962;EPPR=7.97367;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=146.361;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1308;QR=1043;RO=28;RPL=19;RPP=3.25157;RPPR=5.80219;RPR=17;RUN=1;SAF=13;SAP=9.04217;SAR=23;SF=6,13,21,22,31;SRF=7;SRP=18.2106;SRR=21;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-94.608,0,-71.5442:64:28:36:1308:1043:28,36 . . . . . . 0/1:.,.,-183.743:149:70:77:2842:2636 . . . . . . . 0/1:-40.6902,0,-212.925:100:76:23:812:2792:76,23 0/1:.,.,-118.744:92:46:45:1587:1688 . . . . . . . . 0/1:.,.,-179.846:124:68:56:2003:2512 . . . . . +chr12 98941637 . A G 889.95 . AB=0.534653;ABP=4.06379;AC=1;AF=0.5;AN=2;AO=54;CIGAR=1X;DP=101;DPB=101;DPRA=0;EPP=4.45795;EPPR=4.16534;GTI=0;LEN=1;MEANALT=1;MQM=30.0741;MQMR=36.0426;NS=1;NUMALT=1;ODDS=204.919;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2010;QR=1732;RO=47;RPL=43;RPP=44.1879;RPPR=31.8863;RPR=11;RUN=1;SAF=13;SAP=34.5369;SAR=41;SF=23;SRF=10;SRP=36.6912;SRR=37;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TMPO;GeneDetail.refGene=NM_001307975:c.*1A>G\x3bNM_001032284:c.*1A>G\x3bNM_001032283:c.*1A>G;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00279553;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1058300;CLNALLELEID=175902;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=0.0059;ExAC_nontcga_ALL=0.0038;ExAC_nontcga_AFR=0.0011;ExAC_nontcga_AMR=0.0050;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0053;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0024;AF=0.0024;AF_popmax=0.0071;AF_male=0.0026;AF_female=0.0021;AF_raw=0.0024;AF_afr=0.0003;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0040;AF_fin=0.0009;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0090;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\x3d99.244344;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-102.795,0,-109.044:101:47:54:2010:1732 . . . . . . . . . . . . . +chr12 111350901 . T G 3340.04 . AB=0.507143;ABP=3.13438;AC=1;AF=0.5;AN=2;AO=142;CIGAR=1X;DP=280;DPB=280;DPRA=0;EPP=6.92507;EPPR=7.03854;GTI=0;LEN=1;MEANALT=1;MQM=41.9577;MQMR=41.6087;NS=1;NUMALT=1;ODDS=742.487;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4920;QR=4831;RO=138;RPL=49;RPP=32.6157;RPPR=39.2644;RPR=93;RUN=1;SAF=86;SAP=16.7732;SAR=56;SF=28;SRF=80;SRP=10.6262;SRR=58;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYL2:NM_000432:exon6:c.A401C:p.E134A;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs143139258;CLNALLELEID=52645;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|Dilated_cardiomyopathy|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1834460,OMIM:608758|MedGen:C1834481,OMIM:613426|MedGen:CN169374|MedGen:CN230736|MedGen:CN235865|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=0.785;Polyphen2_HDIV_rankscore=0.425;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.605;Polyphen2_HVAR_rankscore=0.491;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=3.98;MutationAssessor_score_rankscore=0.967;MutationAssessor_pred=H;FATHMM_score=-1.53;FATHMM_converted_rankscore=0.816;FATHMM_pred=D;PROVEAN_score=-5.7;PROVEAN_converted_rankscore=0.874;PROVEAN_pred=D;VEST3_score=0.868;VEST3_rankscore=0.952;MetaSVM_score=0.547;MetaSVM_rankscore=0.912;MetaSVM_pred=D;MetaLR_score=0.666;MetaLR_rankscore=0.884;MetaLR_pred=D;M-CAP_score=0.720;M-CAP_rankscore=0.978;M-CAP_pred=D;REVEL_score=0.939;REVEL_rankscore=0.987;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.176;CADD_raw_rankscore=0.852;CADD_phred=28.6;DANN_score=0.995;DANN_rankscore=0.694;fathmm-MKL_coding_score=0.966;fathmm-MKL_coding_rankscore=0.699;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.712;Eigen-PC-raw=0.670;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.503;integrated_fitCons_score_rankscore=0.197;integrated_confidence_value=0;GERP++_RS=5.09;GERP++_RS_rankscore=0.685;phyloP100way_vertebrate=7.636;phyloP100way_vertebrate_rankscore=0.823;phyloP20way_mammalian=1.059;phyloP20way_mammalian_rankscore=0.766;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.953;phastCons20way_mammalian_rankscore=0.430;SiPhy_29way_logOdds=13.837;SiPhy_29way_logOdds_rankscore=0.628;Interpro_domain=EF-hand_domain|EF-hand_domain_pair;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9999;dbscSNV_RF_SCORE=0.996;esp6500siv2_ea=0.0006;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;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0002;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=0.0002;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0004;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\x3d99.945228;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-345.617,0,-334.133:280:138:142:4920:4831 . . . . . . . . +chr12 111350999 . G A,T 5082.45 . AB=0.436364;ABP=8.81405;AC=14,1;AF=0.5;AN=28;AO=72;CIGAR=1X;DP=5411;DPB=165;DPRA=0;EPP=3.49285;EPPR=5.3706;GTI=0;LEN=1;MEANALT=2;MQM=41.7222;MQMR=41.7717;NS=1;NUMALT=1;ODDS=382.181;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2632;QR=3281;RO=92;RPL=56;RPP=51.2652;RPPR=24.253;RPR=16;RUN=1;SAF=36;SAP=3.0103;SAR=36;SF=1,2,4,5,7,11,13,19,21,26,27,31,33,35;SRF=52;SRP=6.40913;SRR=40;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-177.877,0,-234.882,.,.,.:165:92:72,.:2632,.:3281 0/1:-548.629,0,-470.615,.,.,.:408:191:217,.:7779,.:6836 . 0/1:-684.986,0,-599.761,.,.,.:507:239:268,.:9665,.:8696 0/1:-537.397,0,-618.063,.,.,.:462:243:219,.:7821,.:8781:243,219 . 0/1:-684.532,0,-512.463,.,.,.:477:212:264,.:9588,.:7597 . . . 0/1:-627.953,0,-577.181,.,.,.:500:243:256,.:8958,.:8348 . 0/1:-478.693,0,-659.969,.,.,.:460:259:201,.:7108,.:9182 . . . . . 0/1:-613.642,0,-431.997,.,.,.:420:180:238,.:8574,.:6419 . 0/1:-60.8106,0,-397.309,.,.,.:192:153:39,.:1361,.:5218:153,39 . . . . 0/1:-644.161,0,-576.671,.,.,.:513:245:266,.:9267,.:8411 0/1:-665.85,0,-574.714,.,.,.:506:239:266,.:9417,.:8412:239,266 . . . 0/1:-366.969,0,-232.918,.,.,.:247:100:147,.:5066,.:3553 . 1/2:-971.479,-488.314,-442.877,-477.701,0,-428.651:356:2:171,183:6164,6301:77 . 0/1:-233.321,0,-263.433,.,.,.:198:105:93,.:3408,.:3712 . +chr12 111351003 . AGGGGGCA AGGGGGGCA 2811.97 . AB=0.520362;ABP=3.80618;AC=4;AF=0.5;AN=8;AO=115;CIGAR=1M1I6M;DP=1201;DPB=260.429;DPRA=0;EPP=8.4673;EPPR=4.71796;GTI=0;LEN=1;MEANALT=4;MQM=41.7391;MQMR=42;NS=1;NUMALT=1;ODDS=519.927;PAIRED=0.991304;PAIREDR=1;PAO=18.5;PQA=618;PQR=618;PRO=18.5;QA=3989;QR=3691;RO=103;RPL=72;RPP=18.8904;RPPR=18.3793;RPR=43;RUN=1;SAF=59;SAP=3.18024;SAR=56;SF=18,20,30,31;SRF=56;SRP=4.71796;SRR=47;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . 0/1:.,.,-234.407:221:103:115:3989:3691 . 0/1:-413.263,0,-619.615:431:240:185:6226:8578:240,185 . . . . . . . . . 0/1:.,.,-379.556:319:161:153:5235:5727 0/1:.,.,-303.742:230:128:92:3019:4603 . . . . . +chr12 111351029 . TCCCCCACAG TCCCCACAG 4164.27 . AB=0.492424;ABP=3.0761;AC=18;AF=0.5;AN=34;AO=65;CIGAR=1M1D5M;DP=5988;DPB=129.714;DPRA=0;EPP=4.64726;EPPR=7.05258;GTI=0;LEN=1;MEANALT=3;MQM=41.6923;MQMR=41.7077;NS=1;NUMALT=1;ODDS=324.741;PAIRED=0;PAIREDR=0;PAO=7.5;PQA=239;PQR=306;PRO=9.5;QA=2270;QR=2365;RO=65;RPL=33;RPP=3.04371;RPPR=10.5269;RPR=32;RUN=1;SAF=21;SAP=20.6827;SAR=44;SF=1,2,4,5,7,11,13,18,19,20,21,26,27,30,31,33,35;SRF=34;SRP=3.31097;SRR=31;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD . 0/1:.,.,-162.522:132:65:65:2270:2365 0/1:.,.,-421.389:376:181:189:6477:6426 . 0/1:.,.,-518.034:469:213:246:8804:7741 0/1:-471.367,0,-540.099:421:212:197:6915:7669:212,197 . 0/1:.,.,-470.063:442:201:233:8078:7230 . . . 0/1:.,.,-542.158:479:229:239:8198:8029 . 0/1:.,.,-550.698:403:221:176:6002:7839 . . . . 0/1:.,.,-217.038:210:94:113:3883:3281 0/1:.,.,-402.387:411:181:224:7860:6399 0/1:-431.608,0,-569.171:416:224:184:6403:7955:224,184 0/1:-52.5225,0,-317.376:161:122:37:1160:4166:122,37 . . . . 0/1:.,.,-507.36:489:225:255:8485:7662 0/1:-619.652,0,-596.285:521:242:263:8867:8589:242,263 . . 0/1:.,.,-346.524:291:142:147:4990:5040 1/1:.,.,0:256:1:249:8371:33 . 0/1:.,.,-418.094:332:167:164:5796:5976 . 0/1:.,.,-210.972:179:87:90:3140:3105 . +chr12 111351186 . C T 1605.00 . AB=0.666667;ABP=28.3441;AC=4;AF=0.5;AN=8;AO=70;CIGAR=1X;DP=523;DPB=105;DPRA=0;EPP=3.0103;EPPR=4.56135;GTI=0;LEN=1;MEANALT=1;MQM=41.9714;MQMR=42;NS=1;NUMALT=1;ODDS=163.018;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2540;QR=1313;RO=35;RPL=61;RPP=86.8912;RPPR=10.5174;RPR=9;RUN=1;SAF=26;SAP=13.0611;SAR=44;SF=18,20,30,31;SRF=8;SRP=25.4075;SRR=27;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . 0/1:-188.866,0,-82.2682:105:35:70:2540:1313 . 0/1:-214.177,0,-224.136:168:85:81:3057:3165:85,81 . . . . . . . . . 0/1:-151.357,0,-134.998:111:53:58:2132:1954 0/1:-153.651,0,-187.486:139:77:62:2253:2638 . . . . . +chr12 111351963 . GACACACACACACACACACG GACACACACACACACACACACG 534.27 . AB=0.325926;ABP=38.542;AC=2;AF=0.5;AN=4;AO=44;CIGAR=1M2I19M;DP=216;DPB=139.05;DPRA=0;EPP=3.0103;EPPR=11.6962;GTI=0;LEN=2;MEANALT=13;MQM=41.9091;MQMR=41.1562;NS=1;NUMALT=1;ODDS=204.416;PAIRED=0.977273;PAIREDR=1;PAO=0.333333;PQA=9;PQR=9;PRO=0.333333;QA=1534;QR=2297;RO=64;RPL=9;RPP=36.372;RPPR=94.755;RPR=35;RUN=1;SAF=29;SAP=12.6832;SAR=15;SF=20,31;SRF=44;SRP=22.5536;SRR=20;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs142567411;CLNALLELEID=52632;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=0.0653;ExAC_nontcga_ALL=0.1148;ExAC_nontcga_AFR=0.0993;ExAC_nontcga_AMR=0.0385;ExAC_nontcga_EAS=0.2397;ExAC_nontcga_FIN=0.0901;ExAC_nontcga_NFE=0.0930;ExAC_nontcga_OTH=0.0969;ExAC_nontcga_SAS=0.1844;AF=0.0817;AF_popmax=0.2451;AF_male=0.0843;AF_female=0.0785;AF_raw=0.0797;AF_afr=0.0764;AF_sas=.;AF_amr=0.0457;AF_eas=0.2451;AF_nfe=0.0740;AF_fin=0.0685;AF_asj=0.0597;AF_oth=0.0667;non_topmed_AF_popmax=0.2493;non_neuro_AF_popmax=0.2451;non_cancer_AF_popmax=.;controls_AF_popmax=0.2318;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=Name\x3d96.117631;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-99.8944,0,-164.666:135:64:44:1534:2297:64,44 . . . . . . . . . . 0/1:-27.2507,0,-53.7034:81:34:31:923:1224 . . . . . +chr12 111351973 . CA CAGA 1200.08 . AB=0.360947;ABP=31.3936;AC=1;AF=0.5;AN=2;AO=61;CIGAR=1M2I1M;DP=169;DPB=233.5;DPRA=0;EPP=3.0459;EPPR=4.26209;GTI=0;LEN=2;MEANALT=3;MQM=41.3279;MQMR=42;NS=1;NUMALT=1;ODDS=276.328;PAIRED=1;PAIREDR=1;PAO=2.5;PQA=0;PQR=0;PRO=2.5;QA=2115;QR=2991;RO=85;RPL=6;RPP=88.4809;RPPR=110.945;RPR=55;RUN=1;SAF=35;SAP=5.89373;SAR=26;SF=33;SRF=49;SRP=7.3277;SRR=36;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYL2;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\x3d95.730780;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-136.935,0,-214.167:169:85:61:2115:2991 . . . +chr12 111353556 . A G 2685.26 . AB=0.466292;ABP=4.767;AC=5;AF=0.5;AN=10;AO=83;CIGAR=1X;DP=1123;DPB=178;DPRA=0;EPP=6.17594;EPPR=19.6735;GTI=0;LEN=1;MEANALT=1;MQM=41.9518;MQMR=41.6;NS=1;NUMALT=1;ODDS=469.947;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3051;QR=3589;RO=95;RPL=38;RPP=4.29225;RPPR=3.21602;RPR=45;RUN=1;SAF=41;SAP=3.03646;SAR=42;SF=18,20,30,31,33;SRF=53;SRP=5.77607;SRR=42;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . 0/1:-211.114,0,-255.231:178:95:83:3051:3589 . 0/1:-413.225,0,-500.143:347:186:161:5969:7014:186,161 . . . . . . . . . 0/1:-213.943,0,-315.151:199:114:84:3159:4340 0/1:-253.326,0,-216.094:180:84:96:3545:3131 . 0/1:-293.98,0,-288.53:219:109:110:4152:4090 . . . +chr12 111358266 . C T 682.75 . AB=0.461538;ABP=3.84548;AC=1;AF=0.5;AN=2;AO=30;CIGAR=1X;DP=65;DPB=65;DPRA=0;EPP=10.2485;EPPR=6.05036;GTI=0;LEN=1;MEANALT=1;MQM=41.4;MQMR=42;NS=1;NUMALT=1;ODDS=157.209;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1119;QR=1304;RO=35;RPL=7;RPP=21.5402;RPPR=41.7866;RPR=23;RUN=1;SAF=17;SAP=4.16842;SAR=13;SF=33;SRF=19;SRP=3.56868;SRR=16;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-76.5915,0,-93.955:65:35:30:1119:1304 . . . +chr14 23854155 . G A 4662.58 . AB=0.470588;ABP=4.03217;AC=9;AF=0.5;AN=16;AO=64;CIGAR=1X;DP=2691;DPB=136;DPRA=0;EPP=4.23175;EPPR=3.49285;GTI=0;LEN=1;MEANALT=1;MQM=39.3906;MQMR=41.3472;NS=1;NUMALT=1;ODDS=345.638;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2385;QR=2640;RO=72;RPL=37;RPP=6.40323;RPPR=3.49285;RPR=27;RUN=1;SAF=30;SAP=3.55317;SAR=34;SF=1,4,7,12,13,16,20,28;SRF=34;SRP=3.49285;SRR=38;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-156.893,0,-187.336:136:72:64:2385:2640 . . 0/1:-485.446,0,-531.513:410:209:201:7362:7571 . . 0/1:-445.518,0,-630.708:430:241:187:6888:8807 . . . . 1/1:-1227.41,-118.935,0:403:1:401:14869:34:1,401 0/1:-428.249,0,-501.862:369:195:174:6373:7066 . . 0/1:-443.248,0,-455.64:354:178:176:6600:6539:178,176 . . . 0/1:-358.687,0,-503.173:340:191:149:5480:7015:191,149 . . . . . . . 0/1:-253.811,0,-346.846:249:137:111:3988:4935 . . . . . . . . +chr14 23854272 . T C 2493.41 . AB=0.393258;ABP=20.6261;AC=4;AF=0.5;AN=8;AO=70;CIGAR=1X;DP=812;DPB=178;DPRA=0;EPP=3.0103;EPPR=6.44001;GTI=0;LEN=1;MEANALT=2;MQM=41.4857;MQMR=41.6542;NS=1;NUMALT=1;ODDS=345.173;PAIRED=1;PAIREDR=0.990654;PAO=0;PQA=0;PQR=0;PRO=0;QA=2559;QR=4051;RO=107;RPL=61;RPP=86.8912;RPPR=105.313;RPR=9;RUN=1;SAF=26;SAP=13.0611;SAR=44;SF=3,27,31,35;SRF=44;SRP=10.3365;SRR=63;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-168.117,0,-295.734:178:107:70:2559:4051:107,70 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-408.395,0,-308.073:285:124:161:5703:4624:124,161 . . . 0/1:-304.369,0,-222.021:203:86:116:4198:3272 . . . 0/1:-194.029,0,-169.066:146:69:77:2762:2456 . +chr14 23855233 . C T 5803.53 . AB=0.502288;ABP=3.05005;AC=1;AF=0.5;AN=2;AO=439;CIGAR=1X;DP=874;DPB=874;DPRA=0;EPP=53.4686;EPPR=46.1852;GTI=0;LEN=1;MEANALT=1;MQM=24.1071;MQMR=32.7655;NS=1;NUMALT=1;ODDS=1336.31;PAIRED=0.997722;PAIREDR=0.997701;PAO=0;PQA=0;PQR=0;PRO=0;QA=15968;QR=15822;RO=435;RPL=222;RPP=3.13396;RPPR=3.61432;RPR=217;RUN=1;SAF=237;SAP=9.06965;SAR=202;SF=23;SRF=215;SRP=3.1351;SRR=220;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon34:c.G5067A:p.E1689E;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202210008;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_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=3.682e-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\x3d99.944346;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . 0/1:-593.882,0,-890.562:874:435:439:15968:15822 . . . . . . . . . . . . . +chr14 23855320 . G A 4785.46 . AB=0.495614;ABP=3.0484;AC=9;AF=0.5;AN=16;AO=113;CIGAR=1X;DP=4547;DPB=228;DPRA=0;EPP=3.49071;EPPR=3.18024;GTI=0;LEN=1;MEANALT=1;MQM=20.531;MQMR=31.6174;NS=1;NUMALT=1;ODDS=296.853;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4245;QR=4300;RO=115;RPL=60;RPP=3.95191;RPPR=14.8118;RPR=53;RUN=1;SAF=47;SAP=9.94748;SAR=66;SF=1,4,7,12,13,16,20,28;SRF=52;SRP=5.29507;SRR=63;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-136.411,0,-243.583:228:115:113:4245:4300 . . 0/1:-379.947,0,-799.785:663:362:299:11027:13471 . . 0/1:-471.524,0,-820.41:728:388:340:12493:14294 . . . . 1/1:-1479.1,-223.966,0:744:0:744:27704:0:0,744 0/1:-534.742,0,-559.763:638:290:347:12790:10395 . . 0/1:-362.869,0,-625.221:529:285:244:9133:10518:285,244 . . . 0/1:-389.815,0,-786.843:683:365:318:11656:13599:365,318 . . . . . . . 0/1:-185.501,0,-323.566:334:166:168:5797:6124 . . . . . . . . +chr14 23855569 . A G 3525.40 . AB=0.50565;ABP=3.10845;AC=38;AF=0.5;AN=56;AO=179;CIGAR=1X;DP=10482;DPB=354;DPRA=0;EPP=5.7398;EPPR=15.7895;GTI=0;LEN=1;MEANALT=2;MQM=21.3687;MQMR=33.6897;NS=1;NUMALT=1;ODDS=453.687;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6384;QR=6364;RO=174;RPL=74;RPP=14.6683;RPPR=31.7636;RPR=105;RUN=1;SAF=116;SAP=37.0866;SAR=63;SF=0,1,3,4,5,6,7,8,11,12,13,14,15,16,17,20,24,25,26,27,28,29,30,31,32,33,34,35;SRF=110;SRP=29.4174;SRR=64;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-208.973,0,-376.059:354:174:179:6384:6364:174,179 1/1:-253.733,-49.67,0:165:0:165:5873:0 . 0/1:-137.954,0,-336.336:326:169:155:5500:6159:169,155 0/1:-247.646,0,-424.099:407:205:202:7112:7422 0/1:-196.823,0,-439.874:384:204:180:6434:7393:204,180 0/1:-165.221,0,-289.914:291:142:146:5091:5140:142,146 1/1:-806.126,-135.537,0:461:1:458:16397:34 0/1:-134.712,0,-322.361:282:155:127:4484:5634 . . 0/1:-264.446,0,-496.965:492:248:244:8339:8812 1/1:-836.611,-144.494,0:483:0:480:17249:0:0,480 0/1:-284.79,0,-456.137:455:223:232:8161:8079 0/1:-184.955,0,-254.571:281:131:149:5385:4678 1/1:-718.516,-123.89,0:417:1:415:14525:15 0/1:-230.759,0,-332.692:344:165:179:6405:6029:165,179 0/1:-186.921,0,-470.722:382:215:165:5843:7892 . . 1/1:-705.051,-117.703,0:392:0:391:14214:0:0,391 . . . 0/1:-113.774,0,-226.558:207:108:99:3425:3885:108,99 0/1:-342.373,0,-637.297:634:324:308:11118:11598:324,308 0/1:-247.007,0,-519.1:495:261:229:7779:9018 1/1:-891.548,-149.311,0:498:0:496:17254:0:0,496 1/1:-411.556,-79.1709,0:264:0:263:8849:0 1/1:-1036.17,-175.11,0:591:1:589:20442:30 0/1:-172.671,0,-331.566:338:168:168:5871:6023 0/1:-211.912,0,-304.77:327:152:174:6055:5377 0/1:-104.244,0,-393.737:312:183:128:4320:6651 0/1:-180.426,0,-309.704:305:153:151:5490:5480 1/1:-564.078,-93.1572,0:338:3:333:11761:112 1/1:-430.889,-77.3647,0:257:0:257:9112:0 . +chr14 23855849 . C T 1183.73 . AB=0.48125;ABP=3.49888;AC=21;AF=0.5;AN=38;AO=77;CIGAR=1X;DP=3166;DPB=160;DPRA=0;EPP=7.77626;EPPR=10.5712;GTI=0;LEN=1;MEANALT=1;MQM=27.2338;MQMR=35.0482;NS=1;NUMALT=1;ODDS=208.307;PAIRED=1;PAIREDR=0.987952;PAO=0;PQA=0;PQR=0;PRO=0;QA=2588;QR=2919;RO=83;RPL=65;RPP=82.2267;RPPR=82.1513;RPR=12;RUN=1;SAF=20;SAP=41.6174;SAR=57;SF=0,5,6,7,11,14,15,17,20,24,25,26,27,28,29,30,32,34,35;SRF=19;SRP=55.989;SRR=64;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-109.857,0,-180.924:160:83:77:2588:2919:83,77 . . . . 0/1:-126.861,0,-199.093:187:97:90:3179:3337:97,90 0/1:-125.159,0,-143.614:149:72:77:2705:2523:72,77 0/1:-147.052,0,-242.127:211:115:96:3349:3964 . . . 0/1:-135.873,0,-170.979:176:88:88:3070:2937 . . 0/1:-99.9281,0,-147.823:142:71:71:2531:2442 1/1:-363.702,-49.5236,0:169:1:168:5890:14 . 0/1:-125.639,0,-163.636:173:81:89:3111:2855 . . 0/1:-140.222,0,-181.587:201:98:101:3560:3407:98,101 . . . 0/1:-70.3182,0,-79.7951:90:42:46:1649:1382:42,46 0/1:-129.951,0,-282.073:248:143:102:3602:4825:143,102 0/1:-151.348,0,-238.328:236:126:106:3538:4028 0/1:-118.949,0,-208.641:188:104:83:2898:3505:104,83 0/1:-133.716,0,-101.063:135:57:77:2726:1891 1/1:-487.091,-68.7844,0:248:3:244:8433:62 0/1:-84.8898,0,-92.8616:115:47:68:2367:1680 . 0/1:-107.115,0,-163.113:144:79:64:2250:2651 . 0/1:-85.499,0,-129.108:131:64:65:2248:2188 0/1:-45.2696,0,-55.7358:63:29:34:1192:1009 . +chr14 23856714 . G A 2658.02 . AB=0.58871;ABP=19.9618;AC=3;AF=0.5;AN=6;AO=146;CIGAR=1X;DP=640;DPB=248;DPRA=0;EPP=11.5772;EPPR=5.61177;GTI=0;LEN=1;MEANALT=2;MQM=41.8219;MQMR=41.2376;NS=1;NUMALT=1;ODDS=465.777;PAIRED=0.993151;PAIREDR=0.980198;PAO=0;PQA=0;PQR=0;PRO=0;QA=5117;QR=3412;RO=101;RPL=38;RPP=75.8885;RPPR=58.9311;RPR=108;RUN=1;SAF=93;SAP=26.8073;SAR=53;SF=11,27,28;SRF=77;SRP=63.403;SRR=24;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-369.88,0,-223.002:248:101:146:5117:3412 . . . . . . . . . . . . . . . 0/1:-255.874,0,-261.275:221:111:109:3749:3781:111,109 0/1:-226.235,0,-200.671:171:82:89:3201:2907 . . . . . . . . +chr14 23857351 . G A 3650.71 . AB=0.476526;ABP=5.04924;AC=26;AF=0.5;AN=46;AO=203;CIGAR=1X;DP=10975;DPB=426;DPRA=0;EPP=4.81808;EPPR=3.1668;GTI=0;LEN=1;MEANALT=2;MQM=23.0197;MQMR=34.2928;NS=1;NUMALT=1;ODDS=576.056;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7188;QR=8032;RO=222;RPL=77;RPP=28.6936;RPPR=23.7078;RPR=126;RUN=1;SAF=124;SAP=24.6715;SAR=79;SF=0,1,4,8,11,12,13,15,16,17,19,20,24,25,26,27,28,29,30,32,33,34,35;SRF=131;SRP=18.6606;SRR=91;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-262.466,0,-490.8:426:222:203:7188:8032:222,203 1/1:-320.831,-61.1091,0:204:0:203:7219:0 . . 0/1:-361.783,0,-619.294:578:293:284:9842:10656 . . . 0/1:-260.418,0,-392.094:382:187:195:6965:6894 . . 0/1:-379.036,0,-665.992:598:317:278:9357:11148 1/1:-1157.41,-178.249,0:625:6:616:21781:108:6,616 0/1:-335.274,0,-595.264:534:281:251:8678:9909 . 1/1:-1029.55,-164.746,0:561:3:555:19355:47 0/1:-264.539,0,-507.434:430:229:201:7210:8388:229,201 0/1:-415.525,0,-594.937:580:276:301:10711:10186 . 0/1:-248.496,0,-484.146:418:221:197:7106:8015 0/1:-329.626,0,-628.926:560:286:272:9610:10455:286,272 . . . 0/1:-137.02,0,-322.553:246:143:102:3607:5199:143,102 0/1:-459.726,0,-738.149:716:364:348:11966:12713:364,348 0/1:-403.63,0,-680.579:655:338:317:10710:11642 0/1:-459.051,0,-539.612:569:268:301:10279:9527:268,301 0/1:-145.795,0,-318.676:313:161:151:5088:5739 0/1:-383.807,0,-615.172:600:305:294:10178:10580 0/1:-284.236,0,-485.599:439:226:212:7569:8228 . 0/1:-279.378,0,-484.316:450:229:221:7770:8232 0/1:-305.767,0,-440.073:435:208:225:7817:7542 0/1:-285.883,0,-384.213:404:184:219:7679:6690 0/1:-188.535,0,-216.919:252:111:141:4996:3917 . +chr14 23858099 . T C 5028.06 . AB=0.483592;ABP=4.36419;AC=1;AF=0.5;AN=2;AO=280;CIGAR=1X;DP=579;DPB=579;DPRA=0;EPP=14.2089;EPPR=3.19308;GTI=0;LEN=1;MEANALT=2;MQM=31.4393;MQMR=32.6498;NS=1;NUMALT=1;ODDS=1157.75;PAIRED=0.989286;PAIREDR=0.986532;PAO=0;PQA=0;PQR=0;PRO=0;QA=10165;QR=10889;RO=297;RPL=115;RPP=22.3984;RPPR=60.9235;RPR=165;RUN=1;SAF=128;SAP=7.47733;SAR=152;SF=36;SRF=145;SRP=3.36856;SRR=152;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon29:c.A4144G:p.I1382V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=511114;CLNDN=Primary_familial_hypertrophic_cardiomyopathy;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.035;SIFT_converted_rankscore=0.437;SIFT_pred=D;Polyphen2_HDIV_score=0.996;Polyphen2_HDIV_rankscore=0.670;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=0.537;MutationTaster_pred=D;MutationAssessor_score=1.895;MutationAssessor_score_rankscore=0.505;MutationAssessor_pred=L;FATHMM_score=-1.1;FATHMM_converted_rankscore=0.773;FATHMM_pred=T;PROVEAN_score=-0.71;PROVEAN_converted_rankscore=0.202;PROVEAN_pred=N;VEST3_score=0.343;VEST3_rankscore=0.404;MetaSVM_score=0.107;MetaSVM_rankscore=0.843;MetaSVM_pred=D;MetaLR_score=0.595;MetaLR_rankscore=0.855;MetaLR_pred=D;M-CAP_score=0.053;M-CAP_rankscore=0.653;M-CAP_pred=D;REVEL_score=0.362;REVEL_rankscore=0.686;MutPred_score=0.308;MutPred_rankscore=0.280;CADD_raw=3.514;CADD_raw_rankscore=0.480;CADD_phred=23.1;DANN_score=0.999;DANN_rankscore=0.971;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.942;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.613;Eigen-PC-raw=0.549;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.515;integrated_fitCons_score_rankscore=0.199;integrated_confidence_value=0;GERP++_RS=4.74;GERP++_RS_rankscore=0.596;phyloP100way_vertebrate=7.753;phyloP100way_vertebrate_rankscore=0.839;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.092;phastCons20way_mammalian_rankscore=0.186;SiPhy_29way_logOdds=14.555;SiPhy_29way_logOdds_rankscore=0.675;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.868137;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-513.867,0,-596.718:579:297:280:10165:10889 +chr14 23858232 . C T 4912.84 . AB=0.476923;ABP=3.9123;AC=8;AF=0.5;AN=14;AO=93;CIGAR=1X;DP=3359;DPB=195;DPRA=0;EPP=9.75821;EPPR=3.54779;GTI=0;LEN=1;MEANALT=2;MQM=19.3118;MQMR=30.7822;NS=1;NUMALT=1;ODDS=186.664;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3362;QR=3499;RO=101;RPL=64;RPP=31.613;RPPR=18.6836;RPR=29;RUN=1;SAF=48;SAP=3.22044;SAR=45;SF=1,4,12,13,16,20,28;SRF=47;SRP=4.06379;SRR=54;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-91.2226,0,-189.019:195:101:93:3362:3499 . . 0/1:-502.821,0,-445.102:560:248:309:11207:8138 . . . . . . . 1/1:-1424.84,-213.601,0:739:4:734:26553:106:4,734 0/1:-450.627,0,-302.715:441:179:256:9217:5806 . . 0/1:-387.611,0,-387.382:470:212:256:9363:7117:212,256 . . . 0/1:-533.922,0,-526.484:653:305:343:12659:10351:305,343 . . . . . . . 0/1:-156.221,0,-207.167:301:134:164:5805:4399 . . . . . . . . +chr14 23858271 . AGGGGGGGGGGCACC AGGGGGGGGGCACC,AGGGGGGGGCACC 2398.45 . AB=0.494737,0.473684;ABP=3.03316,3.58174;AC=13,8;AF=0.5,0.5;AN=36;AO=47,45;CIGAR=1M1D10M,1M2D9M;DP=3641;DPB=87.75;DPRA=0,0;EPP=4.16534,8.84915;EPPR=5.18177;GTI=0;LEN=1,2;MEANALT=4,4;MQM=32.8723,31.2889;MQMR=42;NS=1;NUMALT=2;ODDS=124.149;PAIRED=0,0;PAIREDR=0;PAO=3.5,3;PQA=117.667,99.6667;PQR=117.667;PRO=3.5;QA=1245,1168;QR=32;RO=1;RPL=34,31;RPP=23.3852,16.956;RPPR=5.18177;RPR=13,14;RUN=1,1;SAF=18,20;SAP=8.60069,4.21667;SAR=29,25;SF=1,4,8,11,12,13,16,19,20,21,22,27,28,29,32,34,35,36;SRF=1;SRP=5.18177;SRR=0;TYPE=del,del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1064795889;CLNALLELEID=45290;CLNDN=Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|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:C2750467,OMIM:613251|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=0.4154;ExAC_nontcga_AFR=0.6291;ExAC_nontcga_AMR=0.3780;ExAC_nontcga_EAS=0.4442;ExAC_nontcga_FIN=0.3604;ExAC_nontcga_NFE=0.3759;ExAC_nontcga_OTH=0.3719;ExAC_nontcga_SAS=0.4476;AF=0.3588;AF_popmax=0.6008;AF_male=0.3629;AF_female=0.3535;AF_raw=0.2710;AF_afr=0.6008;AF_sas=.;AF_amr=0.2175;AF_eas=0.1584;AF_nfe=0.2252;AF_fin=0.2228;AF_asj=0.2193;AF_oth=0.2696;non_topmed_AF_popmax=0.6007;non_neuro_AF_popmax=0.5995;non_cancer_AF_popmax=.;controls_AF_popmax=0.6106;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=Name\x3d98.665719;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs796853250;CLNALLELEID=222364;CLNDN=Familial_hypertrophic_cardiomyopathy_14|not_specified;CLNDISDB=MedGen:C2750467,OMIM:613251|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1100;ExAC_nontcga_AFR=0.1194;ExAC_nontcga_AMR=0.0714;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.1240;ExAC_nontcga_NFE=0.1437;ExAC_nontcga_OTH=0.1305;ExAC_nontcga_SAS=0.0480;AF=0.1372;AF_popmax=0.1712;AF_male=0.1390;AF_female=0.1349;AF_raw=0.1021;AF_afr=0.1076;AF_sas=.;AF_amr=0.1138;AF_eas=0;AF_nfe=0.1712;AF_fin=0.1481;AF_asj=0.2368;AF_oth=0.1322;non_topmed_AF_popmax=0.1635;non_neuro_AF_popmax=0.1724;non_cancer_AF_popmax=.;controls_AF_popmax=0.1600;Kaviar_AF=0.0018952;Kaviar_AC=293;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:GL:DP:RO:AO:QA:QR:AD . 1/2:.,.,-61.8806,.,0,-69.0706:95:1:47,45:1245,1168:32 . . 0/2:.,.,.,.,.,-175.883:290:93:.,150:.,4495:3141 . . . 0/1:.,.,-54.2371,.,.,.:173:45:107,.:2978,.:1468 . . 0/1:.,.,-149.932,.,.,.:280:86:151,.:4405,.:2815 2/2:-751.891,.,.,-90.61,.,0:321:0:.,301:.,8838:0:0,301 0/2:.,.,.,.,.,-117.064:242:72:.,142:.,4099:2290 . . 0/2:-246.759,.,.,0,.,-129.037:212:65:.,118:.,3542:2216:65,118 . . 0/1:.,.,-95.8192,.,.,.:236:65:140,.:4039,.:2051 0/2:-344.94,.,.,0,.,-124.785:276:71:.,169:.,4928:2453:71,169 0/1:-59.3542,0,-57.9423,.,.,.:91:29:34,.:923,.:916:29,34 0/1:.,.,-23.2291,.,.,.:96:21:57,.:1613,.:648 . . . . 0/1:-385.473,0,-118.296,.,.,.:292:70:168,.:5257,.:2285:70,168 0/2:.,.,.,.,.,-64.0168:139:45:.,67:.,1705:1391 0/1:.,.,-122.07,.,.,.:298:85:171,.:4817,.:2758 . . 0/1:.,.,-71.5848,.,.,.:197:47:117,.:3208,.:1543 . 0/1:.,.,-68.5221,.,.,.:142:43:83,.:2175,.:1404 0/1:.,.,-39.9619,.,.,.:119:32:75,.:2083,.:1035 1/1:.,.,0,.,.,.:142:2:122,.:3518,.:62 +chr14 23858272 . G A 2112.83 . AB=0.675676;ABP=42.6837;AC=1;AF=0.5;AN=2;AO=100;CIGAR=1X;DP=148;DPB=148;DPRA=0;EPP=3.79203;EPPR=4.16534;GTI=0;LEN=1;MEANALT=2;MQM=36.09;MQMR=35.9574;NS=1;NUMALT=1;ODDS=167.025;PAIRED=1;PAIREDR=0.851064;PAO=0;PQA=0;PQR=0;PRO=0;QA=3501;QR=1639;RO=47;RPL=59;RPP=10.0459;RPPR=6.75262;RPR=41;RUN=1;SAF=30;SAP=37.7539;SAR=70;SF=14;SRF=19;SRP=6.75262;SRR=28;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs555976716;CLNALLELEID=193334;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|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:C2750467,OMIM:613251|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=0.0001;dbscSNV_RF_SCORE=0.004;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0238;ExAC_nontcga_AFR=0.2398;ExAC_nontcga_AMR=0.0104;ExAC_nontcga_EAS=0.0025;ExAC_nontcga_FIN=0.0010;ExAC_nontcga_NFE=0.0016;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0665;AF=0.0081;AF_popmax=0.0284;AF_male=0.0077;AF_female=0.0086;AF_raw=0.0085;AF_afr=0.0284;AF_sas=.;AF_amr=0.0039;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0030;non_topmed_AF_popmax=0.0287;non_neuro_AF_popmax=0.0327;non_cancer_AF_popmax=.;controls_AF_popmax=0.0309;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\x3d98.665719;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-226.291,0,-83.5944:148:47:100:3501:1639 . . . . . . . . . . . . . . . . . . . . . . +chr14 23859610 . C T 1087.15 . AB=0.365011;ABP=76.2916;AC=11;AF=0.5;AN=20;AO=169;CIGAR=1X;DP=4780;DPB=463;DPRA=0;EPP=5.18177;EPPR=3.077;GTI=0;LEN=1;MEANALT=2;MQM=15.8521;MQMR=13.273;NS=1;NUMALT=1;ODDS=114.216;PAIRED=0.988166;PAIREDR=0.976109;PAO=0;PQA=0;PQR=0;PRO=0;QA=5994;QR=10633;RO=293;RPL=97;RPP=11.0409;RPPR=19.3816;RPR=72;RUN=1;SAF=77;SAP=5.90131;SAR=92;SF=0,15,17,19,24,25,26,29,30,32;SRF=119;SRP=25.4291;SRR=174;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-65.2772,0,-181.601:463:293:169:5994:10633:293,169 . . . . . . . . . . . . . . 1/1:-356.985,-55.9268,0:547:173:371:13225:6226 . 0/1:-51.8723,0,-168.691:507:324:181:6451:11945 . 0/1:-93.4232,0,-210.517:484:296:186:6630:10598 . . . . 0/1:-57.7262,0,-83.9815:174:86:88:3075:3045:86,88 0/1:-158.344,0,-196.654:665:362:301:10723:12928:362,301 0/1:-108.99,0,-177.547:608:369:237:8120:12838 . . 0/1:-197.414,0,-236.55:640:347:289:10009:12265 0/1:-54.1815,0,-110.103:304:182:119:4198:6661 . 0/1:-50.3032,0,-157.283:388:234:153:5540:8412 . . . . +chr14 23861811 . A G 5075.62 . AB=0;ABP=0;AC=31;AF=1;AN=44;AO=273;CIGAR=1X;DP=6603;DPB=278;DPRA=0;EPP=27.0715;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=40.7326;MQMR=0;NS=1;NUMALT=1;ODDS=383.064;PAIRED=0.879121;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9619;QR=0;RO=0;RPL=164;RPP=27.0715;RPPR=0;RPR=109;RUN=1;SAF=166;SAP=30.6986;SAR=107;SF=0,1,2,4,8,11,12,13,15,16,20,23,24,25,27,28,29,30,32,33,34,35;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-822.012,-82.1812,0:278:0:273:9619:0:0,273 1/1:-346.816,-34.0164,0:113:0:113:3983:0 0/1:-316.715,0,-382.274:292:154:133:4722:5478 . 0/1:-329.551,0,-439.815:324:175:142:5017:6316 . . . 0/1:-305.767,0,-360.069:282:146:131:4607:5307 . . 1/1:-1018.81,-107.063,0:367:1:359:12129:15 1/1:-1126.7,-113.553,0:389:1:380:13397:13:1,380 0/1:-357.284,0,-367.13:315:156:152:5345:5418 . 0/1:-330.355,0,-378.025:300:154:143:5006:5485 0/1:-392.16,0,-395.313:330:163:162:5740:5817:163,162 . . . 1/1:-1000.28,-102.952,0:347:0:342:11963:0:0,342 . . 0/1:-322.97,0,-553.832:368:216:148:5247:7827 1/1:-408.777,-39.6357,0:139:1:135:4783:15:1,135 0/1:-559.597,0,-597.981:492:245:243:8359:8740:245,243 . 0/1:-474.595,0,-499.04:421:204:203:7019:7348:204,203 1/1:-608.34,-62.0122,0:206:0:206:6960:0 1/1:-1281.04,-132.547,0:458:1:445:15198:19 0/1:-270.396,0,-353.792:267:145:116:4087:5144 . 0/1:-314.624,0,-354.598:283:142:138:4774:5210 0/1:-263.054,0,-285.362:233:115:109:3889:4162 0/1:-332.296,0,-359.872:286:143:139:4882:5231 1/1:-318.455,-27.2687,0:113:2:110:3838:72 . +chr14 23862710 . C T 2991.43 . AB=0.512397;ABP=3.33333;AC=1;AF=0.5;AN=2;AO=124;CIGAR=1X;DP=242;DPB=242;DPRA=0;EPP=23.254;EPPR=24.2834;GTI=0;LEN=1;MEANALT=1;MQM=38.9194;MQMR=40.7966;NS=1;NUMALT=1;ODDS=683.25;PAIRED=0.991935;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4705;QR=4466;RO=118;RPL=80;RPP=25.7057;RPPR=10.3712;RPR=44;RUN=1;SAF=59;SAP=3.64073;SAR=65;SF=0;SRF=53;SRP=5.66023;SRR=65;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-310.282,0,-306.595:242:118:124:4705:4466:118,124 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr14 23865885 . G A 3668.73 . AB=0;ABP=0;AC=30;AF=1;AN=44;AO=189;CIGAR=1X;DP=4707;DPB=189;DPRA=0;EPP=3.02179;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=39.6614;MQMR=0;NS=1;NUMALT=1;ODDS=266.615;PAIRED=0.989418;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6981;QR=0;RO=0;RPL=33;RPP=176.831;RPPR=0;RPR=156;RUN=1;SAF=111;SAP=15.5221;SAR=78;SF=0,1,2,4,8,11,12,13,15,16,20,23,24,25,27,28,29,30,32,33,34,35;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-584.137,-56.8947,0:189:0:189:6981:0:0,189 1/1:-269.508,-23.9712,0:92:1:91:3291:39 0/1:-358.089,0,-260.503:246:106:140:5119:3889 . 0/1:-311.134,0,-322.618:255:128:127:4527:4657 . . . 0/1:-143.243,0,-214.711:144:82:62:2273:2999 . . 1/1:-769.95,-76.7627,0:256:0:255:9159:0 1/1:-824.303,-79.773,0:265:0:265:9751:0:0,265 0/1:-287.732,0,-319.594:242:123:118:4302:4572 . 0/1:-358.739,0,-302.029:265:120:145:5221:4414 0/1:-279.858,0,-246.856:206:97:109:4015:3621:97,109 . . . 0/1:-325.129,0,-404.642:287:157:129:4816:5702:157,129 . . 0/1:-257.803,0,-337.092:232:127:105:3936:4701 1/1:-334.16,-31.6082,0:105:0:105:3909:0:0,105 0/1:-378.224,0,-412.211:316:162:153:5597:5871:162,153 . 0/1:-328.981,0,-305.571:257:123:132:4782:4450:123,132 1/1:-449.53,-43.9738,0:152:1:150:5357:16 1/1:-1057.09,-102.85,0:348:1:345:12506:15 0/1:-178.529,0,-247.419:170:94:75:2725:3482 . 0/1:-234.164,0,-244.735:196:97:99:3527:3527 0/1:-212.29,0,-242.496:182:93:89:3194:3445 0/1:-237.239,0,-221.558:183:89:94:3480:3211 1/1:-373.935,-35.8226,0:119:0:119:4432:0 . +chr14 23866146 . G C 1002.26 . AB=0.519608;ABP=3.69155;AC=2;AF=0.5;AN=4;AO=106;CIGAR=1X;DP=427;DPB=204;DPRA=0;EPP=21.4473;EPPR=3.09893;GTI=0;LEN=1;MEANALT=1;MQM=19.283;MQMR=33.5306;NS=1;NUMALT=1;ODDS=215.892;PAIRED=0.95283;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4058;QR=3724;RO=98;RPL=21;RPP=86.9193;RPPR=117.877;RPR=85;RUN=1;SAF=57;SAP=4.32138;SAR=49;SF=30,32;SRF=59;SRP=11.8735;SRR=39;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-111.294,0,-212.826:204:98:106:4058:3724 . 0/1:-127.367,0,-192.226:223:98:125:4697:3712 . . . . +chr14 23866189 . G A 2815.59 . AB=0.507246;ABP=3.19912;AC=2;AF=0.5;AN=4;AO=210;CIGAR=1X;DP=865;DPB=414;DPRA=0;EPP=3.17575;EPPR=6.49326;GTI=0;LEN=1;MEANALT=3;MQM=24.2476;MQMR=34.2525;NS=1;NUMALT=1;ODDS=616.218;PAIRED=0.980952;PAIREDR=0.99505;PAO=0;PQA=0;PQR=0;PRO=0;QA=7796;QR=7458;RO=202;RPL=63;RPP=75.9718;RPPR=71.8094;RPR=147;RUN=1;SAF=116;SAP=8.01503;SAR=94;SF=30,32;SRF=115;SRP=11.4382;SRR=87;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-282.821,0,-443.255:414:202:210:7796:7458 . 0/1:-310.16,0,-436.751:451:208:243:9087:7736 . . . . +chr14 23869993 . G A 4820.99 . AB=0.486583;ABP=3.88433;AC=4;AF=0.5;AN=8;AO=272;CIGAR=1X;DP=2484;DPB=559;DPRA=0;EPP=3.2977;EPPR=16.4036;GTI=0;LEN=1;MEANALT=2;MQM=31.7426;MQMR=36.1224;NS=1;NUMALT=1;ODDS=1110.93;PAIRED=0.992647;PAIREDR=0.98951;PAO=0;PQA=0;PQR=0;PRO=0;QA=9953;QR=10306;RO=286;RPL=92;RPP=64.8334;RPPR=25.1502;RPR=180;RUN=1;SAF=141;SAP=3.80864;SAR=131;SF=14,18,20,36;SRF=136;SRP=4.49844;SRR=150;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-496.347,0,-643.321:559:286:272:9953:10306 . . . 0/1:-313.774,0,-567.073:450:245:204:7259:8788 . 0/1:-735.017,0,-990.595:842:445:395:14524:16129:445,395 . . . . . . . . . . . . . . . 0/1:-435.12,0,-830.583:633:363:267:9615:12983 +chr14 23871692 . C T 4575.45 . AB=0.521368;ABP=4.40227;AC=1;AF=0.5;AN=2;AO=183;CIGAR=1X;DP=351;DPB=351;DPRA=0;EPP=14.4135;EPPR=4.87156;GTI=0;LEN=1;MEANALT=1;MQM=40.2077;MQMR=40.5238;NS=1;NUMALT=1;ODDS=938.067;PAIRED=0.983607;PAIREDR=0.994048;PAO=0;PQA=0;PQR=0;PRO=0;QA=6874;QR=6118;RO=168;RPL=57;RPP=59.5042;RPPR=25.8108;RPR=126;RUN=1;SAF=99;SAP=5.68014;SAR=84;SF=19;SRF=91;SRP=5.54368;SRR=77;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH6;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH6:NM_002471:exon12:c.G1122A:p.A374A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs148091079;CLNALLELEID=175575;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=0.0013;ExAC_nontcga_ALL=0.0012;ExAC_nontcga_AFR=0.0002;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0035;ExAC_nontcga_NFE=0.0018;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.095e-05;AF=0.0016;AF_popmax=0.0024;AF_male=0.0014;AF_female=0.0019;AF_raw=0.0016;AF_afr=0.0001;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0021;AF_fin=0.0040;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0025;non_neuro_AF_popmax=0.0036;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0010673;Kaviar_AC=165;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.917565;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 0/1:-471.908,0,-417.269:351:168:183:6874:6118 . . . . . . . . . . . . . . . . . +chr14 23871840 . G T 3299.80 . AB=0.542636;ABP=7.08391;AC=1;AF=0.5;AN=2;AO=140;CIGAR=1X;DP=258;DPB=258;DPRA=0;EPP=4.00297;EPPR=3.02886;GTI=0;LEN=1;MEANALT=2;MQM=41.8143;MQMR=42;NS=1;NUMALT=1;ODDS=648.633;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4752;QR=4277;RO=117;RPL=57;RPP=13.4954;RPPR=55.1442;RPR=83;RUN=1;SAF=73;SAP=3.56868;SAR=67;SF=32;SRF=66;SRP=7.18621;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-338.446,0,-294.622:258:117:140:4752:4277 . . . . +chr14 23871909 . G A 1878.37 . AB=0.458333;ABP=5.54368;AC=1;AF=0.5;AN=2;AO=77;CIGAR=1X;DP=168;DPB=168;DPRA=0;EPP=11.1604;EPPR=41.6143;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9778;NS=1;NUMALT=1;ODDS=432.51;PAIRED=1;PAIREDR=0.977778;PAO=0;PQA=0;PQR=0;PRO=0;QA=2847;QR=3298;RO=90;RPL=36;RPP=3.71532;RPPR=12.6613;RPR=41;RUN=1;SAF=30;SAP=11.1604;SAR=47;SF=35;SRF=36;SRP=10.8276;SRR=54;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-196.085,0,-235.589:168:90:77:2847:3298 . +chr14 23872666 . T C 5975.70 . AB=0;ABP=0;AC=62;AF=1;AN=72;AO=195;CIGAR=1X;DP=8743;DPB=198;DPRA=0;EPP=12.3755;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.8923;MQMR=23;NS=1;NUMALT=1;ODDS=268.546;PAIRED=0.958974;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6951;QR=33;RO=1;RPL=126;RPP=39.1904;RPPR=5.18177;RPR=69;RUN=1;SAF=81;SAP=15.1371;SAR=114;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=1;SRP=5.18177;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-602.985,-57.0154,0:198:1:195:6951:33:1,195 1/1:-270.628,-26.4906,0:88:0:88:3100:0 1/1:-818.229,-79.8078,0:285:2:281:9487:60 0/1:-284.139,0,-200.328:206:91:114:3978:3003:91,114 1/1:-821.339,-81.8802,0:272:0:272:9417:0 1/1:-921.203,-89.4059,0:298:0:297:10597:0:0,297 0/1:-196.933,0,-258.523:191:108:83:2911:3617:108,83 1/1:-895.77,-88.3365,0:299:1:296:10299:12 1/1:-587.938,-58.7009,0:195:0:195:6756:0 0/1:-236.86,0,-373.578:258:153:103:3613:5169:153,103 1/1:-786.629,-76.1606,0:253:0:253:9082:0:0,253 1/1:-976.03,-100.243,0:335:0:333:11179:0 1/1:-901.6,-89.1049,0:296:0:296:10365:0:0,296 1/1:-820.337,-82.1812,0:278:0:273:9409:0 1/1:-620.725,-61.7112,0:205:0:205:7109:0 1/1:-809.155,-80.074,0:266:0:266:9293:0 0/1:-242.911,0,-434.696:280:172:108:3752:5972:172,108 1/1:-779.059,-75.2575,0:252:0:250:8975:0 . 1/1:-778.662,-77.0312,0:261:1:260:8985:16 0/1:-380.892,0,-319.177:295:138:153:5421:4673:138,153 0/1:-297.501,0,-51.6009:151:36:114:3935:1120:36,114 1/1:-463.133,-46.4379,0:161:1:158:5317:16 0/1:-289.307,0,-381.364:275:153:121:4268:5323 1/1:-332.459,-32.8123,0:109:0:109:3808:0:0,109 1/1:-1171.45,-116.499,0:388:0:387:13447:0:0,387 1/1:-891.74,-91.6619,0:311:1:308:10254:15 1/1:-955.021,-93.4044,0:319:1:315:11025:19:1,315 1/1:-467.768,-47.5627,0:158:0:158:5351:0 1/1:-1063.83,-106.866,0:358:0:355:12257:0 1/1:-733.936,-71.6451,0:238:0:238:8444:0 1/1:-636.364,-65.0225,0:218:0:216:7299:0 0/1:-281.74,0,-242.218:219:104:115:3983:3546 1/1:-749.99,-75.5585,0:252:0:251:8615:0 0/1:-202.21,0,-291.37:209:120:89:3063:4054 1/1:-405.179,-40.6391,0:135:0:135:4641:0 0/1:-253.473,0,-307.758:231:126:105:3702:4340 +chr14 23873021 . C T 4400.07 . AB=0.463576;ABP=4.75035;AC=3;AF=0.5;AN=6;AO=70;CIGAR=1X;DP=1062;DPB=151;DPRA=0;EPP=10.9517;EPPR=35.8505;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.5556;NS=1;NUMALT=1;ODDS=379.226;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2516;QR=2960;RO=81;RPL=48;RPP=23.9805;RPPR=4.32391;RPR=22;RUN=1;SAF=33;SAP=3.50664;SAR=37;SF=24,25,29;SRF=33;SRP=9.04217;SRR=48;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-173.124,0,-211.068:151:81:70:2516:2960:81,70 0/1:-537.586,0,-526.39:420:208:211:7662:7508:208,211 . . . 0/1:-652.453,0,-583.232:491:233:254:9212:8468 . . . . . . . +chr14 23873940 . C T 3663.41 . AB=0.533333;ABP=5.61607;AC=1;AF=0.5;AN=2;AO=144;CIGAR=1X;DP=270;DPB=270;DPRA=0;EPP=7.89611;EPPR=24.2907;GTI=0;LEN=1;MEANALT=2;MQM=41.8681;MQMR=41.952;NS=1;NUMALT=1;ODDS=691.748;PAIRED=1;PAIREDR=0.992;PAO=0;PQA=0;PQR=0;PRO=0;QA=5299;QR=4508;RO=125;RPL=94;RPP=32.2045;RPPR=4.41741;RPR=50;RUN=1;SAF=79;SAP=5.96592;SAR=65;SF=18;SRF=65;SRP=3.44459;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-377.205,0,-309.79:270:125:144:5299:4508 . . . . . . . . . . . . . . . . . . +chr14 23874507 . G T 3636.12 . AB=0.514085;ABP=3.49965;AC=9;AF=0.5;AN=18;AO=146;CIGAR=1X;DP=2914;DPB=284;DPRA=0;EPP=13.0645;EPPR=8.10854;GTI=0;LEN=1;MEANALT=1;MQM=37.9247;MQMR=38.942;NS=1;NUMALT=1;ODDS=748.075;PAIRED=1;PAIREDR=0.992754;PAO=0;PQA=0;PQR=0;PRO=0;QA=5545;QR=5152;RO=138;RPL=83;RPP=8.95954;RPPR=3.07324;RPR=63;RUN=1;SAF=49;SAP=37.2779;SAR=97;SF=0,9,11,15,17,19,26,27,29;SRF=52;SRP=21.2003;SRR=86;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-354.034,0,-334.103:284:138:146:5545:5152:138,146 . . . . . . . . 0/1:-252.071,0,-309.991:230:121:109:4011:4436:121,109 . 0/1:-398.627,0,-431.934:352:181:171:6122:6648 . . . 0/1:-333.483,0,-340.314:280:142:138:5153:5204 . 0/1:-419.477,0,-395.134:328:157:171:6401:5862 . 0/1:-314.185,0,-418.751:302:164:138:5008:6133 . . . . . . 0/1:-398.468,0,-438.935:352:182:170:6086:6492 0/1:-419.633,0,-527.686:396:213:183:6777:7723:213,183 . 0/1:-474.384,0,-450.741:390:187:203:7311:6728 . . . . . . . +chr14 23874523 . C T 3674.92 . AB=0;ABP=0;AC=22;AF=1;AN=38;AO=288;CIGAR=1X;DP=5688;DPB=288;DPRA=0;EPP=13.8978;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.5799;MQMR=0;NS=1;NUMALT=1;ODDS=403.858;PAIRED=0.989583;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10382;QR=0;RO=0;RPL=160;RPP=10.7311;RPPR=0;RPR=128;RUN=1;SAF=99;SAP=64.083;SAR=189;SF=0,1,4,8,9,11,12,13,15,16,17,19,20,26,27,28,29,33,34;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-840.501,-86.6966,0:288:0:288:10382:0:0,288 1/1:-252.631,-29.5009,0:100:0:98:3461:0 . . 0/1:-339.577,0,-572.373:389:229:160:5680:8186 . . . 0/1:-297.607,0,-301.588:250:124:126:4489:4430 0/1:-225.172,0,-323.33:242:134:108:3751:4580:134,108 . 0/1:-331.12,0,-439.741:342:188:152:5263:6686 0/1:-439.377,0,-386.697:355:162:193:6771:5866:162,193 0/1:-377.224,0,-371.117:318:153:164:5686:5498 . 1/1:-761.853,-75.8174,0:264:1:263:9358:38 0/1:-355.102,0,-295.536:282:124:157:5579:4489:124,157 0/1:-386.867,0,-378.027:321:155:165:5995:5590 . 0/1:-308.898,0,-447.386:324:181:142:4929:6522 0/1:-442.736,0,-449.092:383:190:193:7016:6720:190,193 . . . . . 0/1:-366.698,0,-367.214:332:164:166:5651:5542 0/1:-388.294,0,-512.718:402:215:186:6301:7554:215,186 0/1:-162.547,0,-211.316:213:109:103:3290:3728 0/1:-424.819,0,-454.99:399:198:198:6636:6734 . . . 0/1:-240.414,0,-361.843:248:142:106:3731:5066 0/1:-267.254,0,-288.086:236:116:120:4321:4205 . . +chr14 23874541 . C T 2370.15 . AB=0.388889;ABP=26.1727;AC=7;AF=0.5;AN=12;AO=84;CIGAR=1X;DP=1171;DPB=216;DPRA=0;EPP=5.59539;EPPR=10.3204;GTI=0;LEN=1;MEANALT=2;MQM=38.2143;MQMR=41.1756;NS=1;NUMALT=1;ODDS=368.85;PAIRED=0.964286;PAIREDR=0.984733;PAO=0;PQA=0;PQR=0;PRO=0;QA=2980;QR=4574;RO=131;RPL=61;RPP=40.3389;RPPR=7.8008;RPR=23;RUN=1;SAF=26;SAP=29.4816;SAR=58;SF=2,11,23,24,28,35;SRF=50;SRP=18.94;SRR=81;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-175.637,0,-331.109:216:131:84:2980:4574 . . . . . . . . 0/1:-330.344,0,-307.188:286:138:146:5173:4825 . . . . . . . . . . . 0/1:-362.331,0,-216.649:248:96:152:5571:3401 0/1:-128.524,0,-171.708:126:68:58:2012:2442:68,58 . . . 0/1:-156.741,0,-145.537:173:87:85:3024:3043 . . . . . . 1/1:-333.27,-36.7257,0:122:0:122:4140:0 . +chr14 23876216 . G A 3701.63 . AB=0.530612;ABP=4.20683;AC=3;AF=0.5;AN=6;AO=78;CIGAR=1X;DP=1039;DPB=147;DPRA=0;EPP=3.45573;EPPR=9.26925;GTI=0;LEN=1;MEANALT=2;MQM=41.7692;MQMR=42;NS=1;NUMALT=1;ODDS=356.718;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2618;QR=2408;RO=68;RPL=15;RPP=67.1523;RPPR=35.7101;RPR=63;RUN=1;SAF=52;SAP=21.8297;SAR=26;SF=24,25,29;SRF=45;SRP=18.4661;SRR=23;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-183.732,0,-165.863:147:68:78:2618:2408:68,78 0/1:-483.977,0,-614.365:463:252:208:7128:8646:252,208 . . . 0/1:-506.029,0,-498.111:429:214:214:7291:7248 . . . . . . . +chr14 23876267 . C T 5306.24 . AB=0.5;ABP=3.0103;AC=7;AF=0.5;AN=12;AO=227;CIGAR=1X;DP=2284;DPB=454;DPRA=0;EPP=8.98902;EPPR=12.2032;GTI=0;LEN=1;MEANALT=1;MQM=41.6211;MQMR=41.7489;NS=1;NUMALT=1;ODDS=1259.78;PAIRED=0.977974;PAIREDR=0.995595;PAO=0;PQA=0;PQR=0;PRO=0;QA=8075;QR=8071;RO=227;RPL=73;RPP=65.7725;RPPR=59.7269;RPR=154;RUN=1;SAF=122;SAP=5.77486;SAR=105;SF=2,11,23,24,28,35;SRF=131;SRP=14.7286;SRR=96;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-562.261,0,-562.219:454:227:227:8075:8071 . . . . . . . . 0/1:-605.636,0,-707.551:533:278:253:8817:10001 . . . . . . . . . . . 0/1:-519.963,0,-713.229:478:266:212:7646:9895 0/1:-311.029,0,-302.68:238:115:123:4398:4335:115,123 . . . 0/1:-457.847,0,-338.47:324:143:180:6397:5022 . . . . . . 1/1:-808.84,-74.3229,0:257:1:255:9348:30 . +chr14 23882144 . T C 2271.56 . AB=0;ABP=0;AC=32;AF=1;AN=48;AO=149;CIGAR=1X;DP=3228;DPB=149;DPRA=0;EPP=3.37464;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9866;MQMR=0;NS=1;NUMALT=1;ODDS=211.163;PAIRED=0.993289;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5430;QR=0;RO=0;RPL=125;RPP=151.676;RPPR=0;RPR=24;RUN=1;SAF=48;SAP=43.9477;SAR=101;SF=0,1,2,4,8,9,11,12,13,15,16,17,19,20,24,25,26,28,29,30,32,33,34,35;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-472.662,-44.8535,0:149:0:149:5430:0:0,149 1/1:-179.965,-17.1587,0:57:0:57:2058:0 0/1:-185.705,0,-157.412:137:63:74:2598:2290 . 0/1:-237.998,0,-177.351:166:71:95:3302:2624 . . . 0/1:-97.7029,0,-170.248:103:63:40:1489:2344 0/1:-120.531,0,-138.617:100:52:48:1725:1947:52,48 . 1/1:-666.591,-65.6245,0:219:0:218:7638:0 0/1:-307.825,0,-165.476:191:71:119:4202:2564:71,119 0/1:-195.65,0,-162.378:145:65:79:2743:2373 . 1/1:-399.342,-38.8329,0:130:0:129:4605:0 1/1:-371.709,-35.8226,0:119:0:119:4276:0:0,119 0/1:-151.599,0,-238.497:155:88:67:2271:3297 . 0/1:-267.208,0,-77.43:142:39:102:3552:1382 0/1:-178.183,0,-292.196:181:106:73:2688:4000:106,73 . . . 1/1:-244.713,-23.7814,0:79:0:79:2803:0:0,79 0/1:-209.888,0,-317.273:209:120:88:3138:4406:120,88 0/1:-206.25,0,-154.698:149:64:83:2896:2291 . 1/1:-282.903,-28.2968,0:94:0:94:3246:0 0/1:-232.202,0,-211.987:181:86:95:3291:3069 0/1:-116.29,0,-189.437:119:71:48:1741:2591 . 0/1:-191.386,0,-102.658:119:43:74:2597:1592 0/1:-178.821,0,-131.045:121:51:70:2465:1932 0/1:-153.313,0,-82.5041:91:34:57:2069:1266 1/1:-215.124,-18.0935,0:72:1:71:2506:37 . +chr14 23883184 . C T 3862.87 . AB=0.468531;ABP=5.47029;AC=13;AF=0.5;AN=24;AO=134;CIGAR=1X;DP=3655;DPB=286;DPRA=0;EPP=3.07512;EPPR=10.0169;GTI=0;LEN=1;MEANALT=2;MQM=41.8582;MQMR=42;NS=1;NUMALT=1;ODDS=731.924;PAIRED=1;PAIREDR=0.993333;PAO=0;PQA=0;PQR=0;PRO=0;QA=4753;QR=5376;RO=150;RPL=60;RPP=6.18648;RPPR=14.3599;RPR=74;RUN=1;SAF=80;SAP=13.9649;SAR=54;SF=0,1,4,8,12,13,15,16,20,28,33,34;SRF=93;SRP=21.7718;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-326.295,0,-382.09:286:150:134:4753:5376:150,134 1/1:-402.437,-40.338,0:134:0:134:4625:0 . . 0/1:-435.314,0,-474.414:367:190:176:6290:6724 . . . 0/1:-382.733,0,-293.279:282:124:155:5381:4330 . . . 0/1:-540.532,0,-546.065:433:217:215:7742:7788:217,215 0/1:-409.093,0,-484.215:361:190:171:5986:6828 . 0/1:-401.965,0,-465.753:355:186:168:5894:6603 0/1:-424.77,0,-395.327:328:157:171:6057:5691:157,171 . . . 0/1:-459.36,0,-460.184:371:184:184:6599:6589:184,184 . . . . . . . 0/1:-271.119,0,-248.77:229:106:121:3913:3638 . . . . 0/1:-351.881,0,-273.628:257:116:139:4944:4024 0/1:-330.022,0,-281.758:252:115:137:4669:4116 . . +chr14 23884353 . C T 3921.61 . AB=0.503526;ABP=3.08687;AC=1;AF=0.5;AN=2;AO=357;CIGAR=1X;DP=709;DPB=709;DPRA=0;EPP=44.913;EPPR=54.5345;GTI=0;LEN=1;MEANALT=2;MQM=22.3361;MQMR=32.106;NS=1;NUMALT=1;ODDS=902.983;PAIRED=0.994398;PAIREDR=0.997135;PAO=0;PQA=0;PQR=0;PRO=0;QA=11937;QR=12579;RO=349;RPL=218;RPP=40.9715;RPPR=15.6098;RPR=139;RUN=1;SAF=173;SAP=3.74629;SAR=184;SF=2;SRF=164;SRP=5.75419;SRR=185;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon37:c.G5410A:p.A1804T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs730880818;CLNALLELEID=179479;CLNDN=not_provided;CLNDISDB=MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Pathogenic;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=2.88;MutationAssessor_score_rankscore=0.837;MutationAssessor_pred=M;FATHMM_score=-1.15;FATHMM_converted_rankscore=0.780;FATHMM_pred=T;PROVEAN_score=-2.8;PROVEAN_converted_rankscore=0.592;PROVEAN_pred=D;VEST3_score=0.648;VEST3_rankscore=0.663;MetaSVM_score=0.586;MetaSVM_rankscore=0.917;MetaSVM_pred=D;MetaLR_score=0.714;MetaLR_rankscore=0.902;MetaLR_pred=D;M-CAP_score=0.867;M-CAP_rankscore=0.990;M-CAP_pred=D;REVEL_score=0.667;REVEL_rankscore=0.878;MutPred_score=0.537;MutPred_rankscore=0.648;CADD_raw=7.265;CADD_raw_rankscore=0.947;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.995;fathmm-MKL_coding_score=0.976;fathmm-MKL_coding_rankscore=0.753;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.892;Eigen-PC-raw=0.825;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=5.27;GERP++_RS_rankscore=0.737;phyloP100way_vertebrate=6.048;phyloP100way_vertebrate_rankscore=0.705;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=19.075;SiPhy_29way_logOdds_rankscore=0.931;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.958243;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . 0/1:-407.934,0,-701.697:709:349:357:11937:12579 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr14 23884476 . C T 4009.95 . AB=0.494505;ABP=3.12961;AC=1;AF=0.5;AN=2;AO=225;CIGAR=1X;DP=455;DPB=455;DPRA=0;EPP=4.64132;EPPR=3.61984;GTI=0;LEN=1;MEANALT=3;MQM=32.0311;MQMR=35.9868;NS=1;NUMALT=1;ODDS=923.326;PAIRED=1;PAIREDR=0.995614;PAO=0;PQA=0;PQR=0;PRO=0;QA=8227;QR=8444;RO=228;RPL=169;RPP=126.244;RPPR=114.098;RPR=56;RUN=1;SAF=104;SAP=5.79944;SAR=121;SF=17;SRF=90;SRP=24.9536;SRR=138;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon37:c.G5287A:p.A1763T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs727504355;CLNALLELEID=175588;CLNDN=Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_cardiomyopathy_1S|Myosin_storage_myopathy|Myopathy,_myosin_storage,_autosomal_recessive|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1834481,OMIM:613426|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C1850709,OMIM:255160|MedGen:C3495498,OMIM:192600|MedGen:C4552004,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.011;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.615;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.907;Polyphen2_HVAR_rankscore=0.627;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.95;MutationAssessor_score_rankscore=0.852;MutationAssessor_pred=M;FATHMM_score=-1.07;FATHMM_converted_rankscore=0.770;FATHMM_pred=T;PROVEAN_score=-2.59;PROVEAN_converted_rankscore=0.558;PROVEAN_pred=D;VEST3_score=0.696;VEST3_rankscore=0.701;MetaSVM_score=0.373;MetaSVM_rankscore=0.887;MetaSVM_pred=D;MetaLR_score=0.651;MetaLR_rankscore=0.878;MetaLR_pred=D;M-CAP_score=0.826;M-CAP_rankscore=0.987;M-CAP_pred=D;REVEL_score=0.847;REVEL_rankscore=0.953;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.268;CADD_raw_rankscore=0.866;CADD_phred=29.0;DANN_score=0.999;DANN_rankscore=0.996;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.976;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.851;Eigen-PC-raw=0.812;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=5.25;GERP++_RS_rankscore=0.731;phyloP100way_vertebrate=7.040;phyloP100way_vertebrate_rankscore=0.761;phyloP20way_mammalian=0.872;phyloP20way_mammalian_rankscore=0.381;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.974;phastCons20way_mammalian_rankscore=0.471;SiPhy_29way_logOdds=19.037;SiPhy_29way_logOdds_rankscore=0.929;Interpro_domain=Myosin_tail;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=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=0.0002;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=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\x3d99.961330;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-421.529,0,-513.975:455:228:225:8227:8444 . . . . . . . . . . . . . . . . . . . +chr14 23884889 . C T 8251.25 . AB=0.497494;ABP=3.05384;AC=10;AF=0.5;AN=16;AO=397;CIGAR=1X;DP=5736;DPB=798;DPRA=0;EPP=65.6329;EPPR=36.9756;GTI=0;LEN=1;MEANALT=3;MQM=31.9018;MQMR=34.7243;NS=1;NUMALT=1;ODDS=1701.95;PAIRED=0.989924;PAIREDR=0.994987;PAO=0;PQA=0;PQR=0;PRO=0;QA=14622;QR=14442;RO=399;RPL=186;RPP=6.42886;RPPR=4.23481;RPR=211;RUN=1;SAF=215;SAP=8.96681;SAR=182;SF=2,11,16,24,25,28,29,35;SRF=220;SRP=12.1588;SRR=179;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-754.152,0,-853.427:798:399:397:14622:14442 . . . . . . . . 0/1:-799.974,0,-990.721:879:446:430:15923:16260 . . . . 0/1:-688.546,0,-705.471:692:325:366:13538:12246:325,366 . . . . . . . 1/1:-1009.52,-121.405,0:411:1:409:15305:39:1,409 0/1:-1032.9,0,-1100.86:1081:516:564:20728:18662:516,564 . . 0/1:-347.53,0,-467.07:445:221:223:8194:8069 0/1:-1004.53,0,-1022.81:981:475:500:18223:17168 . . . . . 1/1:-1099.17,-129.411,0:449:2:447:16710:69 . +chr14 23886226 . G A 4138.19 . AB=0.546075;ABP=8.41304;AC=1;AF=0.5;AN=2;AO=160;CIGAR=1X;DP=293;DPB=293;DPRA=0;EPP=6.48466;EPPR=4.98585;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.7143;NS=1;NUMALT=1;ODDS=735.019;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5943;QR=4895;RO=133;RPL=106;RPP=39.7082;RPPR=80.7425;RPR=54;RUN=1;SAF=76;SAP=3.87889;SAR=84;SF=10;SRF=58;SRP=7.72876;SRR=75;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MHRT;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00359425;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45503601;CLNALLELEID=186473;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=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0072;ExAC_nontcga_AFR=0.0019;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0080;ExAC_nontcga_NFE=0.0099;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0080;AF=0.0070;AF_popmax=0.0113;AF_male=0.0068;AF_female=0.0074;AF_raw=0.0070;AF_afr=0.0017;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0113;AF_fin=0.0060;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0124;non_neuro_AF_popmax=0.0111;non_cancer_AF_popmax=.;controls_AF_popmax=0.0127;Kaviar_AF=0.0075161;Kaviar_AC=1162;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-425.438,0,-335.332:293:133:160:5943:4895:133,160 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr14 23886383 . G A 645.55 . AB=0.245098;ABP=60.5756;AC=2;AF=0.5;AN=4;AO=25;CIGAR=1X;DP=221;DPB=102;DPRA=0;EPP=3.09716;EPPR=3.0385;GTI=0;LEN=1;MEANALT=1;MQM=36.96;MQMR=39.9351;NS=1;NUMALT=1;ODDS=57.5773;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=847;QR=2760;RO=77;RPL=11;RPP=3.79203;RPPR=6.42261;RPR=14;RUN=1;SAF=15;SAP=5.18177;SAR=10;SF=21,22;SRF=36;SRP=3.71532;SRR=41;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon32:c.C4498T:p.R1500W;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs45544633;CLNALLELEID=175594;CLNDN=Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|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:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic/Likely_pathogenic;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=0.524;MutationTaster_pred=D;MutationAssessor_score=4.435;MutationAssessor_score_rankscore=0.988;MutationAssessor_pred=H;FATHMM_score=-1.81;FATHMM_converted_rankscore=0.840;FATHMM_pred=D;PROVEAN_score=-6.0;PROVEAN_converted_rankscore=0.895;PROVEAN_pred=D;VEST3_score=0.968;VEST3_rankscore=0.968;MetaSVM_score=0.914;MetaSVM_rankscore=0.959;MetaSVM_pred=D;MetaLR_score=0.836;MetaLR_rankscore=0.945;MetaLR_pred=D;M-CAP_score=0.925;M-CAP_rankscore=0.995;M-CAP_pred=D;REVEL_score=0.836;REVEL_rankscore=0.949;MutPred_score=0.65;MutPred_rankscore=0.788;CADD_raw=6.811;CADD_raw_rankscore=0.925;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.985;fathmm-MKL_coding_score=0.878;fathmm-MKL_coding_rankscore=0.472;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.552;Eigen-PC-raw=0.381;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.108;integrated_fitCons_score=0.497;integrated_fitCons_score_rankscore=0.185;integrated_confidence_value=0;GERP++_RS=0.846;GERP++_RS_rankscore=0.180;phyloP100way_vertebrate=0.238;phyloP100way_vertebrate_rankscore=0.176;phyloP20way_mammalian=0.031;phyloP20way_mammalian_rankscore=0.150;phastCons100way_vertebrate=0.988;phastCons100way_vertebrate_rankscore=0.363;phastCons20way_mammalian=0.998;phastCons20way_mammalian_rankscore=0.697;SiPhy_29way_logOdds=15.450;SiPhy_29way_logOdds_rankscore=0.749;Interpro_domain=Myosin_tail;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.954622;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-36.778,0,-201.48:102:77:25:847:2760:77,25 0/1:-111.749,0,-169.211:119:67:52:1812:2406 . . . . . . . . . . . . . . +chr14 23888685 . G A 6540.41 . AB=0.516068;ABP=4.19661;AC=1;AF=0.5;AN=2;AO=273;CIGAR=1X;DP=529;DPB=529;DPRA=0;EPP=3.08189;EPPR=8.33254;GTI=0;LEN=1;MEANALT=2;MQM=40.7619;MQMR=41.1647;NS=1;NUMALT=1;ODDS=1412.58;PAIRED=0.981685;PAIREDR=0.988235;PAO=0;PQA=0;PQR=0;PRO=0;QA=9733;QR=9186;RO=255;RPL=73;RPP=131.302;RPPR=53.4992;RPR=200;RUN=1;SAF=163;SAP=25.3534;SAR=110;SF=25;SRF=151;SRP=21.8212;SRR=104;TYPE=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=rs45467397;CLNALLELEID=52147;CLNDN=Cardiomyopathy|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|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: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=0.0001;dbscSNV_RF_SCORE=0.002;esp6500siv2_ea=0.005;ExAC_nontcga_ALL=0.0021;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0009;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0002;AF=0.0018;AF_popmax=0.0030;AF_male=0.0021;AF_female=0.0015;AF_raw=0.0019;AF_afr=0.0003;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0030;AF_fin=0.0009;AF_asj=0;AF_oth=0.0037;non_topmed_AF_popmax=0.0028;non_neuro_AF_popmax=0.0028;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;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=Name\x3d99.712135;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-677.115,0,-628.497:529:255:273:9733:9186:255,273 . . . . . . . . . . . +chr14 23889445 . TGGTC TGGGTC 514.97 . AB=0.245399;ABP=94.785;AC=6;AF=0.5;AN=12;AO=40;CIGAR=1M1I4M;DP=1156;DPB=171;DPRA=0;EPP=16.9077;EPPR=3.08268;GTI=0;LEN=1;MEANALT=3;MQM=29.25;MQMR=20.5417;NS=1;NUMALT=1;ODDS=56.5329;PAIRED=1;PAIREDR=0.991667;PAO=0;PQA=0;PQR=0;PRO=0;QA=1072;QR=4392;RO=120;RPL=25;RPP=8.43898;RPPR=124.685;RPR=15;RUN=1;SAF=23;SAP=4.96463;SAR=17;SF=0,9,11,15,17,26;SRF=54;SRP=5.61607;SRR=66;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD 0/1:-41.6042,0,-149.033:163:120:40:1072:4392:120,40 . . . . . . . . 0/1:-38.5421,0,-136.412:146:105:36:954:3836:105,36 . 0/1:.,.,-233.442:265:167:94:2604:6013 . . . 0/1:.,.,-193.002:192:147:40:1071:5302 . 0/1:.,.,-172.788:182:127:53:1392:4712 . . . . . . . . 0/1:.,.,-191.266:208:144:62:1836:5026 . . . . . . . . . . +chr14 23891481 . C T 4555.48 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=213;CIGAR=1X;DP=426;DPB=426;DPRA=0;EPP=3.83607;EPPR=5.01789;GTI=0;LEN=1;MEANALT=2;MQM=37.77;MQMR=40.816;NS=1;NUMALT=1;ODDS=1048.94;PAIRED=0.985915;PAIREDR=0.990566;PAO=0;PQA=0;PQR=0;PRO=0;QA=7487;QR=7548;RO=212;RPL=146;RPP=66.6355;RPPR=47.6279;RPR=67;RUN=1;SAF=97;SAP=6.69059;SAR=116;SF=11;SRF=102;SRP=3.66584;SRR=110;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-469.683,0,-517.968:426:212:213:7487:7548 . . . . . . . . . . . . . . . . . . . . . . . . . +chr14 23892888 . A G 4396.90 . AB=0;ABP=0;AC=28;AF=1;AN=42;AO=265;CIGAR=1X;DP=5602;DPB=267;DPRA=0;EPP=4.0018;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=37.6377;MQMR=42;NS=1;NUMALT=1;ODDS=350.902;PAIRED=0.992453;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9850;QR=77;RO=2;RPL=135;RPP=3.21516;RPPR=7.35324;RPR=130;RUN=1;SAF=127;SAP=4.0018;SAR=138;SF=0,1,2,4,8,9,11,13,15,16,17,19,20,24,26,28,30,32,33,34,35;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-776.189,-73.3659,0:267:2:265:9850:77:2,265 1/1:-273.863,-28.2968,0:94:0:94:3502:0 0/1:-349.123,0,-298.85:288:125:161:5875:4594 . 0/1:-317.192,0,-473.204:319:176:143:5282:6696 . . . 0/1:-240.87,0,-280.182:214:107:106:3921:4076 0/1:-253.892,0,-303.296:234:118:116:4234:4410:118,116 . 1/1:-1051.23,-106.003,0:359:1:356:12928:17 . 0/1:-464.697,0,-481.039:386:189:197:7199:7099 . 1/1:-865.927,-90.309,0:300:0:300:11062:0 1/1:-868.256,-91.8142,0:306:0:305:11090:0:0,305 0/1:-430.633,0,-422.394:351:166:185:6851:6238 . 0/1:-369.868,0,-379.928:310:149:161:5961:5632 0/1:-400.565,0,-433:346:170:176:6344:6383:170,176 . . . 0/1:-169.038,0,-135.147:122:54:68:2552:2028:54,68 . 0/1:-434.572,0,-369.36:345:154:191:6774:5600 . 1/1:-616.863,-62.7276,0:220:1:219:7806:38 . 0/1:-241.528,0,-342.348:240:132:108:3997:4954 . 0/1:-307.744,0,-376.944:275:141:134:4910:5388 0/1:-282.1,0,-342.784:254:131:123:4493:4926 0/1:-261.773,0,-274.284:225:108:117:4265:4128 1/1:-412.635,-44.2514,0:147:0:147:5287:0 . +chr14 23895233 . C T 3862.35 . AB=0.549145;ABP=12.8283;AC=1;AF=0.5;AN=2;AO=257;CIGAR=1X;DP=468;DPB=468;DPRA=0;EPP=30.4621;EPPR=18.8132;GTI=0;LEN=1;MEANALT=2;MQM=26.9689;MQMR=33.177;NS=1;NUMALT=1;ODDS=889.339;PAIRED=1;PAIREDR=0.995215;PAO=0;PQA=0;PQR=0;PRO=0;QA=9215;QR=7323;RO=209;RPL=155;RPP=26.7444;RPPR=27.9563;RPR=102;RUN=1;SAF=112;SAP=12.2116;SAR=145;SF=27;SRF=87;SRP=15.7378;SRR=122;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon19:c.G2102A:p.G701D;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.005;SIFT_converted_rankscore=0.632;SIFT_pred=D;Polyphen2_HDIV_score=0.987;Polyphen2_HDIV_rankscore=0.600;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=3.87;MutationAssessor_score_rankscore=0.960;MutationAssessor_pred=H;FATHMM_score=-2.33;FATHMM_converted_rankscore=0.879;FATHMM_pred=D;PROVEAN_score=-6.16;PROVEAN_converted_rankscore=0.902;PROVEAN_pred=D;VEST3_score=0.98;VEST3_rankscore=0.982;MetaSVM_score=1.060;MetaSVM_rankscore=0.983;MetaSVM_pred=D;MetaLR_score=0.893;MetaLR_rankscore=0.964;MetaLR_pred=D;M-CAP_score=0.982;M-CAP_rankscore=0.999;M-CAP_pred=D;REVEL_score=0.927;REVEL_rankscore=0.983;MutPred_score=0.723;MutPred_rankscore=0.858;CADD_raw=6.690;CADD_raw_rankscore=0.916;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.939;fathmm-MKL_coding_score=0.973;fathmm-MKL_coding_rankscore=0.736;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.066;Eigen-PC-raw=0.946;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=5.03;GERP++_RS_rankscore=0.669;phyloP100way_vertebrate=7.652;phyloP100way_vertebrate_rankscore=0.826;phyloP20way_mammalian=0.932;phyloP20way_mammalian_rankscore=0.445;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.543;SiPhy_29way_logOdds_rankscore=0.909;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=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.960395;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-399.805,0,-407.054:468:209:257:9215:7323:209,257 . . . . . . . . . +chr14 23898507 . G A 5987.73 . AB=0.473098;ABP=6.39844;AC=1;AF=0.5;AN=2;AO=255;CIGAR=1X;DP=539;DPB=539;DPRA=0;EPP=8.33254;EPPR=3.28556;GTI=0;LEN=1;MEANALT=1;MQM=39.4471;MQMR=41.3204;NS=1;NUMALT=1;ODDS=1378.73;PAIRED=0.988235;PAIREDR=0.996479;PAO=0;PQA=0;PQR=0;PRO=0;QA=9348;QR=10565;RO=284;RPL=129;RPP=3.08694;RPPR=5.48761;RPR=126;RUN=1;SAF=113;SAP=10.1719;SAR=142;SF=20;SRF=130;SRP=7.41441;SRR=154;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon13:c.C1188T:p.L396L;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\x3d99.944366;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-607.734,0,-745.008:539:284:255:9348:10565:284,255 . . . . . . . . . . . . . . . . +chr14 23898994 . G A 2001.55 . AB=0.430939;ABP=10.5085;AC=7;AF=0.5;AN=12;AO=78;CIGAR=1X;DP=967;DPB=181;DPRA=0;EPP=3.12166;EPPR=3.03269;GTI=0;LEN=1;MEANALT=3;MQM=40.2308;MQMR=41.2062;NS=1;NUMALT=1;ODDS=370.882;PAIRED=0.948718;PAIREDR=0.989691;PAO=0;PQA=0;PQR=0;PRO=0;QA=2703;QR=3207;RO=97;RPL=14;RPP=72.6088;RPPR=11.0918;RPR=64;RUN=1;SAF=40;SAP=3.12166;SAR=38;SF=2,11,16,24,28,35;SRF=51;SRP=3.56996;SRR=46;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-175.322,0,-224.626:181:97:78:2703:3207 . . . . . . . . 0/1:-304.502,0,-276.968:265:124:130:4560:4146 . . . . 0/1:-175.337,0,-209.98:174:91:79:2745:3071:91,79 . . . . . . . 0/1:-87.0619,0,-101.176:80:41:37:1289:1462:41,37 . . . 0/1:-159.265,0,-160.574:139:71:68:2313:2313 . . . . . . 1/1:-362.299,-36.7257,0:128:0:122:4195:0 . +chr14 23899027 . C T 2716.69 . AB=0.541436;ABP=5.70964;AC=12;AF=0.5;AN=22;AO=98;CIGAR=1X;DP=2453;DPB=181;DPRA=0;EPP=6.20103;EPPR=16.8502;GTI=0;LEN=1;MEANALT=1;MQM=38.7959;MQMR=41.1807;NS=1;NUMALT=1;ODDS=473.06;PAIRED=1;PAIREDR=0.975904;PAO=0;PQA=0;PQR=0;PRO=0;QA=3617;QR=3169;RO=83;RPL=42;RPP=7.35324;RPPR=16.8502;RPR=56;RUN=1;SAF=49;SAP=3.0103;SAR=49;SF=0,1,4,8,13,15,16,20,28,33,34;SRF=44;SRP=3.66436;SRR=39;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-239.464,0,-214.955:181:83:98:3617:3169:83,98 1/1:-210.393,-18.4727,0:68:1:67:2479:20 . . 0/1:-371.503,0,-422.483:313:162:151:5616:6079 . . . 0/1:-230.371,0,-239.984:184:93:91:3415:3505 . . . . 0/1:-350.285,0,-401.831:305:156:148:5386:5806 . 0/1:-318.724,0,-428.086:295:166:129:4904:6213 0/1:-274.339,0,-298.095:225:117:108:4026:4363:117,108 . . . 0/1:-313.827,0,-398.569:279:149:130:4863:5669:149,130 . . . . . . . 0/1:-220.135,0,-198.345:164:78:86:3125:2863 . . . . 0/1:-259.536,0,-288.103:209:108:101:3801:4077 0/1:-283.654,0,-313.672:230:119:111:4160:4440 . . +chr14 23899060 . G A 3653.45 . AB=0.479452;ABP=3.81345;AC=7;AF=0.5;AN=14;AO=105;CIGAR=1X;DP=2074;DPB=219;DPRA=0;EPP=4.02365;EPPR=4.22937;GTI=0;LEN=1;MEANALT=1;MQM=41.3714;MQMR=39.5877;NS=1;NUMALT=1;ODDS=609.498;PAIRED=0.980952;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3944;QR=4033;RO=114;RPL=57;RPP=4.68544;RPPR=3.08649;RPR=48;RUN=1;SAF=55;SAP=3.52732;SAR=50;SF=0,9,11,15,17,19,26;SRF=59;SRP=3.31507;SRR=55;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-271.697,0,-273.308:219:114:105:3944:4033:114,105 . . . . . . . . 0/1:-282.821,0,-239.683:209:98:111:4084:3493:98,111 . 0/1:-477.495,0,-365.334:353:164:188:6775:5547 . . . 0/1:-456.784,0,-383.736:341:157:182:6581:5702 . 0/1:-405.47,0,-380.672:316:153:163:5849:5555 . 0/1:-335.799,0,-440.019:307:172:134:5019:6154 . . . . . . 0/1:-385.099,0,-391.812:329:165:160:5619:5646 . . . . . . . . . . +chr14 23899793 . G A 4482.42 . AB=0.464692;ABP=7.7638;AC=6;AF=0.5;AN=12;AO=204;CIGAR=1X;DP=2303;DPB=439;DPRA=0;EPP=13.9102;EPPR=10.2857;GTI=0;LEN=1;MEANALT=2;MQM=41.8039;MQMR=41.8462;NS=1;NUMALT=1;ODDS=1142.83;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7423;QR=8524;RO=234;RPL=74;RPP=36.3914;RPPR=65.4077;RPR=130;RUN=1;SAF=112;SAP=7.26809;SAR=92;SF=4,10,17,23,30,31;SRF=131;SRP=10.2857;SRR=103;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-508.827,0,-607.099:439:234:204:7423:8524 . . . . . 0/1:-468.942,0,-503.56:376:196:178:6732:7098:196,178 . . . . . . 0/1:-543.139,0,-742.63:498:280:216:8031:10299 . . . . . 0/1:-559.713,0,-650.714:467:252:215:8105:9123 . . . . . . 0/1:-393.246,0,-389.4:302:151:151:5596:5527 0/1:-283.376,0,-269.388:221:109:111:4033:3856 . . . . . +chr14 23900093 . C T 1844.42 . AB=0.5;ABP=3.0103;AC=2;AF=0.5;AN=4;AO=71;CIGAR=1X;DP=323;DPB=142;DPRA=0;EPP=3.28556;EPPR=9.89173;GTI=0;LEN=1;MEANALT=1;MQM=41.9718;MQMR=42;NS=1;NUMALT=1;ODDS=408.265;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2628;QR=2636;RO=71;RPL=36;RPP=3.04088;RPPR=4.50892;RPR=35;RUN=1;SAF=46;SAP=16.4979;SAR=25;SF=30,32;SRF=44;SRP=11.8491;SRR=27;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-184.938,0,-186.012:142:71:71:2628:2636 . 0/1:-200.317,0,-268.858:181:100:81:2942:3728 . . . . +chr14 23900794 . G A 6744.91 . AB=0.522976;ABP=5.10575;AC=14;AF=0.5;AN=24;AO=239;CIGAR=1X;DP=5307;DPB=457;DPRA=0;EPP=6.29022;EPPR=8.74777;GTI=0;LEN=1;MEANALT=1;MQM=40.3096;MQMR=41.4312;NS=1;NUMALT=1;ODDS=1264.86;PAIRED=0.991632;PAIREDR=0.995413;PAO=0;PQA=0;PQR=0;PRO=0;QA=8844;QR=8088;RO=218;RPL=110;RPP=6.29022;RPPR=4.00639;RPR=129;RUN=1;SAF=93;SAP=28.5319;SAR=146;SF=0,2,9,11,15,16,17,19,24,26,28,35;SRF=93;SRP=13.2102;SRR=125;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-605.835,0,-558.454:457:218:239:8844:8088:218,239 . 0/1:-740.321,0,-577.414:516:234:282:10540:8489 . . . . . . 0/1:-597.054,0,-633.035:477:244:232:8694:8968:244,232 . 1/1:-1792.01,-173.995,0:579:0:578:21010:0 . . . 0/1:-587.203,0,-591.069:469:231:238:8688:8484 0/1:-588.144,0,-602.23:464:231:233:8632:8623:231,233 0/1:-743.671,0,-781.367:600:303:297:11022:11219 . 0/1:-559.275,0,-584.853:453:227:226:8383:8324 . . . . 0/1:-272.633,0,-292.914:218:111:107:3997:4147:111,107 . 0/1:-689.34,0,-642.1:540:262:277:10099:9303 . 0/1:-408.997,0,-411.184:328:162:165:5960:5874 . . . . . . 1/1:-628.931,-54.9316,0:206:2:203:7476:77 . +chr14 23901012 . T C 3067.73 . AB=0.48062;ABP=3.85196;AC=1;AF=0.5;AN=2;AO=124;CIGAR=1X;DP=258;DPB=258;DPRA=0;EPP=3.08035;EPPR=3.26958;GTI=0;LEN=1;MEANALT=1;MQM=41.9677;MQMR=42;NS=1;NUMALT=1;ODDS=706.371;PAIRED=0.991935;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4530;QR=5027;RO=134;RPL=48;RPP=16.7396;RPPR=3.59368;RPR=76;RUN=1;SAF=51;SAP=11.486;SAR=73;SF=18;SRF=53;SRP=15.715;SRR=81;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-315.824,0,-356.646:258:134:124:4530:5027 . . . . . . . . . . . . . . . . . . +chr14 23901996 . C T 1531.27 . AB=0.527559;ABP=3.84811;AC=1;AF=0.5;AN=2;AO=67;CIGAR=1X;DP=127;DPB=127;DPRA=0;EPP=3.30199;EPPR=3.0471;GTI=0;LEN=1;MEANALT=2;MQM=37.7164;MQMR=41.2034;NS=1;NUMALT=1;ODDS=312.683;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2489;QR=2098;RO=59;RPL=43;RPP=14.7103;RPPR=5.99147;RPR=24;RUN=1;SAF=35;SAP=3.30199;SAR=32;SF=4;SRF=26;SRP=4.81373;SRR=33;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYH7;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYH7:NM_000257:exon5:c.G354A:p.S118S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368925624;CLNALLELEID=230512;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=0.0002;ExAC_nontcga_ALL=6.605e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.375e-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=Name\x3dENSR00000492689|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.950440;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . 0/1:-160.649,0,-142.487:127:59:67:2489:2098 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr14 23902753 . G A 7510.16 . AB=0.580488;ABP=26.0809;AC=35;AF=0.5;AN=56;AO=238;CIGAR=1X;DP=11468;DPB=410;DPRA=0;EPP=6.65983;EPPR=7.59452;GTI=0;LEN=1;MEANALT=2;MQM=41.9034;MQMR=41.9766;NS=1;NUMALT=1;ODDS=903.122;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8911;QR=6173;RO=171;RPL=75;RPP=73.6653;RPPR=47.2144;RPR=163;RUN=1;SAF=170;SAP=97.9347;SAR=68;SF=0,1,2,3,6,8,9,11,13,15,16,17,18,19,20,21,23,24,25,26,27,28,29,32,33,34,35,36;SRF=122;SRP=70.6815;SRR=49;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-646.44,0,-413.546:410:171:238:8911:6173:171,238 0/1:-246.975,0,-200.162:169:78:91:3448:2887 0/1:-707.938,0,-508.927:473:207:266:9844:7488 0/1:-601.534,0,-438.341:403:176:227:8420:6450:176,227 . . 0/1:-475.934,0,-371.6:326:150:176:6644:5390:150,176 . 0/1:-543.643,0,-388.508:361:157:204:7544:5716 1/1:-1271.46,-118.004,0:392:0:392:14728:0:0,392 . 1/1:-1762.36,-162.778,0:557:2:555:20435:53 . 0/1:-843.219,0,-605.488:556:244:310:11715:8888 . 0/1:-725.013,0,-370.931:422:158:264:9922:5723 0/1:-546.821,0,-519.167:407:202:205:7754:7378:202,205 0/1:-841.268,0,-513.05:522:212:309:11586:7735 1/1:-955.914,-87.7055,0:296:1:295:11084:14 0/1:-620.074,0,-435.919:405:177:228:8591:6437 0/1:-743.271,0,-550.709:499:225:274:10365:8082:225,274 0/1:-123.682,0,-379.154:198:141:56:2116:5046:141,56 . 0/1:-683.168,0,-435.468:424:176:248:9395:6504 1/1:-726.2,-67.4307,0:224:0:224:8403:0:0,224 0/1:-963.696,0,-690.246:639:282:357:13401:10141:282,357 0/1:-660.655,0,-573.426:491:235:256:9412:8314 0/1:-726.194,0,-680.75:554:271:282:10360:9745:271,282 0/1:-446.098,0,-394.028:335:158:177:6345:5696 1/1:-2187.89,-199.018,0:695:3:691:25503:112 . . 0/1:-565.181,0,-351.018:352:144:207:7778:5248 0/1:-499.26,0,-384.359:339:154:184:6965:5582 1/1:-1146.46,-107.167,0:357:0:356:13322:0 1/1:-732.63,-68.0328,0:226:0:226:8488:0 0/1:-702.872,0,-428.642:436:177:259:9642:6471 +chr14 73664718 . T C 1070.14 . AB=0.468354;ABP=4.38465;AC=7;AF=0.5;AN=14;AO=74;CIGAR=1X;DP=684;DPB=158;DPRA=0;EPP=5.94472;EPPR=3.42391;GTI=0;LEN=1;MEANALT=1;MQM=40.8649;MQMR=41.0714;NS=1;NUMALT=1;ODDS=407.769;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2808;QR=3219;RO=84;RPL=13;RPP=70.6194;RPPR=15.5221;RPR=61;RUN=1;SAF=35;SAP=3.47981;SAR=39;SF=12,14,18,19,20,21,24;SRF=43;SRP=3.1137;SRR=41;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-191.088,0,-225.088:158:84:74:2808:3219:84,74 . 0/1:-119.666,0,-96.6495:83:38:45:1696:1437 . . . 0/1:-68.9578,0,-103.224:65:37:28:1069:1420 0/1:-99.3736,0,-153.338:100:56:41:1558:2137 0/1:-186.261,0,-143.389:125:56:69:2635:2119:56,69 0/1:-73.3368,0,-158.333:89:58:31:1154:2142:58,31 . . 0/1:-70.5765,0,-94.1492:64:35:29:1078:1311:35,29 . . . . . . . . . . . . +chr14 73664853 . G T 3258.02 . AB=0;ABP=0;AC=42;AF=1;AN=56;AO=139;CIGAR=1X;DP=4224;DPB=139;DPRA=0;EPP=8.64988;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7626;MQMR=0;NS=1;NUMALT=1;ODDS=197.3;PAIRED=0.985612;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5269;QR=0;RO=0;RPL=88;RPP=24.397;RPPR=0;RPR=51;RUN=1;SAF=69;SAP=3.02592;SAR=70;SF=0,1,2,4,5,6,7,8,9,11,13,14,15,16,19,20,21,22,23,24,27,28,29,30,31,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-453.197,-41.8432,0:139:0:139:5269:0:0,139 0/1:-51.6397,0,-114.703:64:42:22:817:1547 0/1:-132.871,0,-196.071:127:73:54:2008:2712 . 0/1:-207.562,0,-185.102:149:71:78:2938:2674 1/1:-493.228,-42.635,0:154:1:153:5795:39:1,153 1/1:-503.944,-46.3586,0:154:0:154:5870:0:0,154 0/1:-224.303,0,-266.049:187:98:89:3258:3738 1/1:-445.598,-41.8432,0:140:0:139:5212:0 1/1:-305.21,-28.2968,0:94:0:94:3546:0:0,94 . 1/1:-853.146,-80.375,0:268:0:267:9916:0 . 1/1:-657.477,-58.2733,0:210:2:208:7743:54 0/1:-152.454,0,-219.612:138:79:59:2247:3042 1/1:-406.335,-37.6288,0:126:0:125:4742:0 0/1:-222.341,0,-197.541:163:76:86:3158:2897:76,86 . . 0/1:-173.488,0,-181.399:139:72:67:2494:2595 0/1:-208.183,0,-278.781:185:104:81:3057:3885:104,81 0/1:-235.566,0,-61.2242:118:32:86:3159:1111:32,86 1/1:-377.758,-36.4246,0:122:0:121:4387:0 1/1:-604.633,-55.3895,0:184:0:184:7026:0 0/1:-95.5184,0,-101.403:80:41:39:1442:1465:41,39 . . 0/1:-292.286,0,-283.513:224:109:115:4205:4084:109,115 1/1:-386.529,-37.3277,0:124:0:124:4500:0 0/1:-221.154,0,-352.638:226:131:95:3461:4910 0/1:-142.849,0,-220.619:139:81:58:2149:3067 0/1:-126.235,0,-235.41:138:85:52:1953:3203 . . 1/1:-543.126,-50.573,0:168:0:168:6303:0 1/1:-300.553,-28.2968,0:94:0:94:3536:0 1/1:-536.517,-51.1751,0:170:0:170:6315:0 +chr14 73673178 . A G 2684.85 . AB=0.4689;ABP=4.76618;AC=2;AF=0.5;AN=4;AO=98;CIGAR=1X;DP=432;DPB=209;DPRA=0;EPP=4.4284;EPPR=5.3774;GTI=0;LEN=1;MEANALT=1;MQM=41.6327;MQMR=41.8378;NS=1;NUMALT=1;ODDS=575.453;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3725;QR=4108;RO=111;RPL=60;RPP=13.7347;RPPR=29.7918;RPR=38;RUN=1;SAF=43;SAP=6.20103;SAR=55;SF=5,36;SRF=47;SRP=8.66395;SRR=64;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-258.162,0,-290.666:209:111:98:3725:4108:111,98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-296.226,0,-281.124:223:110:113:4205:4025 +chr14 73673219 . G A 2063.58 . AB=0.413146;ABP=16.9669;AC=1;AF=0.5;AN=2;AO=88;CIGAR=1X;DP=213;DPB=213;DPRA=0;EPP=14.9534;EPPR=3.16665;GTI=0;LEN=1;MEANALT=1;MQM=41.7159;MQMR=41.856;NS=1;NUMALT=1;ODDS=475.158;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3302;QR=4735;RO=125;RPL=59;RPP=25.2185;RPPR=111.428;RPR=29;RUN=1;SAF=26;SAP=34.9902;SAR=62;SF=20;SRF=38;SRP=44.7199;SRR=87;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=PSEN1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200219842;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0010;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0016;ExAC_nontcga_SAS=0.0051;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=0.0001;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;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\x3d96.571246;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-220.919,0,-345.185:213:125:88:3302:4735:125,88 . . . . . . . . . . . . . . . . +chr14 76425702 . T G 13.63 . AB=0.4;ABP=3.44459;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=3.0103;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.09338;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=71;QR=116;RO=3;RPL=2;RPP=7.35324;RPPR=3.73412;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=3;SRF=0;SRP=9.52472;SRR=3;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TGFB3;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=Name\x3dENSR00000987039|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-5.05271,0,-8.85639:5:3:2:71:116:3,2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr14 76432050 . G C 2330.19 . AB=0.487047;ABP=3.29158;AC=1;AF=0.5;AN=2;AO=94;CIGAR=1X;DP=193;DPB=193;DPRA=0;EPP=8.9241;EPPR=6.71716;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=536.546;PAIRED=1;PAIREDR=0.989899;PAO=0;PQA=0;PQR=0;PRO=0;QA=3505;QR=3756;RO=99;RPL=68;RPP=43.7601;RPPR=16.7191;RPR=26;RUN=1;SAF=37;SAP=12.2506;SAR=57;SF=35;SRF=43;SRP=6.71716;SRR=56;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TGFB3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61762490;CLNALLELEID=373175;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=0.0974;dbscSNV_RF_SCORE=0.366;esp6500siv2_ea=0.0003;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=0.0003;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0052;AF=0.0003;AF_popmax=0.0005;AF_male=0.0002;AF_female=0.0003;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=0.0006;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\x3d98.407270;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-245.23,0,-266.349:193:99:94:3505:3756 . +chr14 90863489 . G A 542.86 . AB=0;ABP=0;AC=62;AF=1;AN=74;AO=26;CIGAR=1X;DP=1028;DPB=26;DPRA=0;EPP=15.0369;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=40.6488;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=949;QR=0;RO=0;RPL=0;RPP=59.4686;RPPR=0;RPR=26;RUN=1;SAF=19;SAP=15.0369;SAR=7;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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,OREG1168103|N/A|TFAP2C|PAZAR,OREG1542714|N/A|ETS1|PAZAR,OREG1762293|N/A|MITF|PAZAR,OREG1942573|N/A|TP53|PAZAR,OREG1219800|N/A|SMARCA4|PAZAR,OREG1488045|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.594244;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-82.6617,-7.82678,0:26:0:26:949:0:0,26 0/1:-15.7023,0,-24.8125:15:9:6:230:333 1/1:-92.8361,-9.63296,0:32:0:32:1078:0 0/1:-36.5563,0,-44.1539:32:17:15:527:612:17,15 1/1:-118.527,-11.1381,0:37:0:37:1367:0 1/1:-118.033,-11.7402,0:39:0:39:1365:0:0,39 0/1:-22.5808,0,-15.363:14:6:8:306:221:6,8 1/1:-59.8992,-6.0206,0:20:0:20:689:0 1/1:-100.583,-10.5361,0:36:0:35:1153:0 0/1:-8.59583,0,-35.1873:17:13:4:155:457:13,4 1/1:-80.3938,-7.52575,0:25:0:25:940:0:0,25 1/1:-86.3208,-8.72987,0:30:0:29:991:0 0/1:-56.3398,0,-43.3766:40:17:23:784:634:17,23 0/1:-60.3436,0,-55.2756:47:24:23:854:789 0/1:-19.4895,0,-24.3449:17:9:8:280:335 1/1:-126.06,-11.7402,0:39:0:39:1455:0 1/1:-105.484,-9.93399,0:33:0:33:1215:0:0,33 0/1:-71.2496,0,-75.1728:56:29:27:1013:1052 1/1:-26.5552,-2.40824,0:8:0:8:303:0 1/1:-94.9663,-9.33193,0:31:0:31:1092:0 1/1:-79.92,-7.82678,0:26:0:26:918:0:0,26 1/1:-33.3547,-0.276228,0:12:1:11:421:34:1,11 1/1:-54.6552,-5.11751,0:17:0:17:629:0 1/1:-82.9527,-7.52575,0:25:0:25:957:0 1/1:-48.596,-4.51545,0:15:0:15:556:0:0,15 1/1:-197.204,-18.6639,0:62:0:62:2284:0:0,62 0/1:-52.0415,0,-34.9477:35:15:20:719:517 1/1:-114.435,-11.1381,0:37:0:37:1318:0:0,37 1/1:-53.6109,-5.11751,0:17:0:17:616:0 0/1:-42.2437,0,-45.8194:37:19:18:611:650 1/1:-80.6865,-7.82678,0:26:0:26:926:0 1/1:-79.0199,-7.52575,0:25:0:25:908:0 1/1:-47.5887,-4.51545,0:15:0:15:546:0 1/1:-68.3474,-6.32163,0:21:0:21:786:0 0/1:-32.5579,0,-32.1473:26:13:13:461:455 1/1:-26.2631,-2.70927,0:9:0:9:300:0 0/1:-32.144,0,-38.5003:29:16:13:481:538 +chr14 90863643 . TTTTGTTTGT TTTTGT 1887.95 . AB=0.583942;ABP=11.395;AC=1;AF=0.5;AN=2;AO=80;CIGAR=1M4D5M;DP=137;DPB=107;DPRA=0;EPP=5.72464;EPPR=10.6105;GTI=0;LEN=4;MEANALT=2;MQM=41.075;MQMR=42;NS=1;NUMALT=1;ODDS=302.592;PAIRED=0;PAIREDR=0;PAO=2;PQA=60.5;PQR=95.5;PRO=3;QA=2798;QR=2071;RO=56;RPL=34;RPP=6.91895;RPPR=5.49198;RPR=46;RUN=1;SAF=51;SAP=16.1477;SAR=29;SF=28;SRF=29;SRP=3.16541;SRR=27;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM1;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=Name\x3dENSR00000071950|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1219800|N/A|SMARCA4|PAZAR,OREG1488045|N/A|EGR1|PAZAR,OREG1249922|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.003229,96.436211;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-198.002,0,-139.434:137:56:80:2798:2071 . . . . . . . . +chr14 90866346 . C T 1218.89 . AB=0;ABP=0;AC=41;AF=1;AN=62;AO=90;CIGAR=1X;DP=2181;DPB=90;DPRA=0;EPP=63.329;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8;MQMR=0;NS=1;NUMALT=1;ODDS=129.372;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3347;QR=0;RO=0;RPL=24;RPP=45.5712;RPPR=0;RPR=66;RUN=1;SAF=44;SAP=3.10681;SAR=46;SF=0,1,4,5,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,32,33,35;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-288.406,-27.0927,0:90:0:90:3347:0:0,90 0/1:-43.678,0,-46.083:33:17:16:618:644 . . 1/1:-229.978,-21.0721,0:70:0:70:2665:0 0/1:-92.6165,0,-101.001:74:38:36:1325:1422:38,36 . 0/1:-101.653,0,-88.8937:72:34:38:1440:1276 0/1:-61.0358,0,-100.766:61:37:24:915:1384 0/1:-62.668,0,-95.4191:61:36:25:934:1314:36,25 1/1:-201.643,-18.6639,0:62:0:62:2332:0:0,62 0/1:-132.181,0,-129.892:100:50:50:1875:1862 0/1:-151.037,0,-98.1955:94:38:56:2085:1463:38,56 0/1:-125.25,0,-135.845:98:51:47:1792:1907 0/1:-56.6712,0,-91.9717:55:33:22:845:1252 1/1:-236.602,-22.5773,0:75:0:75:2759:0 1/1:-208.307,-18.9649,0:63:0:63:2410:0:0,63 0/1:-105.529,0,-87.832:72:33:39:1480:1265 0/1:-81.7341,0,-71.4826:59:27:32:1146:1029 1/1:-213.506,-20.169,0:67:0:67:2468:0 1/1:-215.646,-20.47,0:69:0:68:2508:0:0,68 0/1:-116.06,0,-21.4524:52:11:41:1519:427:11,41 1/1:-196.016,-18.3628,0:61:0:61:2265:0 0/1:-75.8238,0,-104.846:67:38:29:1108:1443 1/1:-119.069,-11.1381,0:37:0:37:1373:0:0,37 0/1:-186,0,-164.034:135:64:70:2633:2372:64,70 0/1:-112.527,0,-136.021:95:51:44:1627:1900 0/1:-134.083,0,-136.454:104:52:52:1910:1936:52,52 0/1:-58.8777,0,-101.246:62:38:24:893:1383 0/1:-181.457,0,-92.2727:111:39:70:2513:1443 0/1:-46.1895,0,-72.1595:45:26:19:686:988 . 0/1:-95.3338,0,-38.2552:49:16:33:1274:610 1/1:-143.271,-13.2453,0:45:0:44:1657:0 . 0/1:-49.9052,0,-66.758:43:24:19:723:919 . +chr15 35083508 . TCACACACACACACACACACACACACACACACACACACACACACACAT TCACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACAT 425.19 . AB=0.516129,0.215054;ABP=3.22044,68.5981;AC=6,2,3,1,3,1;AF=0.5,0.5;AN=20;AO=48,20;CIGAR=1M16D31M,1M2D45M;DP=795;DPB=72.4792;DPRA=0,0;EPP=3.19126,3.0103;EPPR=0;GTI=0;LEN=16,2;MEANALT=16,16;MQM=23.0833,42;MQMR=0;NS=1;NUMALT=2;ODDS=3.9372;PAIRED=1,1;PAIREDR=0;PAO=3.25,3.58333;PQA=71.75,78.4167;PQR=78.4167;PRO=3.58333;QA=931,545;QR=0;RO=0;RPL=31,13;RPP=11.8771,6.91895;RPPR=0;RPR=17,7;RUN=1,1;SAF=22,7;SAP=3.73412,6.91895;SAR=26,13;SF=0,3,6,9,10,12,16,21,24,25;SRF=0;SRP=0;SRR=0;TYPE=del,del;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs113062201;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1294;AF_popmax=0.1444;AF_male=0.1266;AF_female=0.1329;AF_raw=0.1268;AF_afr=0.1444;AF_sas=.;AF_amr=0.1170;AF_eas=0.1276;AF_nfe=0.1216;AF_fin=0.1401;AF_asj=0.1116;AF_oth=0.1156;non_topmed_AF_popmax=0.1445;non_neuro_AF_popmax=0.1528;non_cancer_AF_popmax=.;controls_AF_popmax=0.1563;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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs878999773;CLNALLELEID=331628;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|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: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=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=ncRNA_intronic;Gene.refGene=LOC101928174;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs767357797;CLNALLELEID=322315;CLNDN=Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|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: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=0.1309;AF_popmax=0.1622;AF_male=0.1331;AF_female=0.1281;AF_raw=0.1299;AF_afr=0.1622;AF_sas=.;AF_amr=0.0877;AF_eas=0.1180;AF_nfe=0.1217;AF_fin=0.1187;AF_asj=0.0714;AF_oth=0.1497;non_topmed_AF_popmax=0.1595;non_neuro_AF_popmax=0.1632;non_cancer_AF_popmax=.;controls_AF_popmax=0.1546;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;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101928174;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_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d_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1388;AF_popmax=0.2836;AF_male=0.1417;AF_female=0.1353;AF_raw=0.1270;AF_afr=0.0451;AF_sas=.;AF_amr=0.2836;AF_eas=0.2117;AF_nfe=0.1687;AF_fin=0.1282;AF_asj=0.2188;AF_oth=0.1655;non_topmed_AF_popmax=0.2778;non_neuro_AF_popmax=0.2675;non_cancer_AF_popmax=.;controls_AF_popmax=0.2312;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:GL:DP:RO:AO:QA:QR:AD 6/2:-86.9783,.,.,-61.3116,.,-38.7344,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-42.2486,.,0,.,.,.,-10.2819:93:0:.,20,.,.,.,48:.,545,.,.,.,931:0:0,48,20 . . 2/3:-51.9265,.,.,-24.0651,.,-22.3346,-24.1642,.,0,-23.0361,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:78:6:.,24,22,.,.,.:.,554,550,.,.,.:222:6,24,22 . . 1/1:-55.0258,-27.4606,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:81:0:38,.,.,.,.,.:711,.,.,.,.,.:0:0,38 . . 5/5:-103.126,.,.,.,.,.,.,.,.,.,.,.,.,.,.,-19.2759,.,.,.,.,0,.,.,.,.,.,.,.:65:0:.,.,.,.,43,.:.,.,.,.,1199,.:0:0,43 0/4:-30.1105,.,.,.,.,.,.,.,.,.,0,.,.,.,-44.6163,.,.,.,.,.,.,.,.,.,.,.,.,.:105:24:.,.,.,29,.,.:.,.,.,689,.,.:856:24,29 . 0/5:-33.3556,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,-19.0759,.,.,.,.,.,.,.:104:18:.,.,.,.,30,.:.,.,.,.,756,.:625:18,30 . . . 1/1:-80.8549,-27.7003,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:95:0:82,.,.,.,.,.:1092,.,.,.,.,.:0:0,82 . . . . 0/1:-9.45557,0,-15.9271,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:38:9:13,.,.,.,.,.:251,.,.,.,.,.:307:9,13 . . 3/3:-13.6166,.,.,.,.,.,-4.51545,.,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:18:0:.,.,6,.,.,.:.,.,154,.,.,.:0:0,6 0/1:-31.5305,0,-8.10667,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:118:13:49,.,.,.,.,.:795,.,.,.,.,.:461:13,49 . . . . . . . . . . . +chr15 35084392 . G A 5656.72 . AB=0.523148;ABP=5.02092;AC=1;AF=0.5;AN=2;AO=226;CIGAR=1X;DP=432;DPB=432;DPRA=0;EPP=35.3326;EPPR=13.9102;GTI=0;LEN=1;MEANALT=2;MQM=40.5575;MQMR=40.4363;NS=1;NUMALT=1;ODDS=1096.09;PAIRED=1;PAIREDR=0.990196;PAO=0;PQA=0;PQR=0;PRO=0;QA=8397;QR=7311;RO=204;RPL=137;RPP=25.1478;RPPR=21.7871;RPR=89;RUN=1;SAF=133;SAP=18.3836;SAR=93;SF=18;SRF=135;SRP=49.3776;SRR=69;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ACTC1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ACTC1:NM_005159:exon5:c.C707T:p.S236F;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=0.814;Polyphen2_HDIV_rankscore=0.435;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.831;Polyphen2_HVAR_rankscore=0.578;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.755;MutationAssessor_score_rankscore=0.952;MutationAssessor_pred=H;FATHMM_score=-4.57;FATHMM_converted_rankscore=0.978;FATHMM_pred=D;PROVEAN_score=-4.13;PROVEAN_converted_rankscore=0.751;PROVEAN_pred=D;VEST3_score=0.649;VEST3_rankscore=0.663;MetaSVM_score=1.089;MetaSVM_rankscore=0.992;MetaSVM_pred=D;MetaLR_score=0.968;MetaLR_rankscore=0.990;MetaLR_pred=D;M-CAP_score=0.644;M-CAP_rankscore=0.970;M-CAP_pred=D;REVEL_score=0.833;REVEL_rankscore=0.948;MutPred_score=0.331;MutPred_rankscore=0.318;CADD_raw=6.658;CADD_raw_rankscore=0.913;CADD_phred=32;DANN_score=0.997;DANN_rankscore=0.778;fathmm-MKL_coding_score=0.987;fathmm-MKL_coding_rankscore=0.862;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.945;Eigen-PC-raw=0.876;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=4.75;GERP++_RS_rankscore=0.598;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=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=18.307;SiPhy_29way_logOdds_rankscore=0.901;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dENSR00000991026|TF_binding_site,ENSR00000074836|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG0318144|N/A|STAT3|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.128363;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-580.171,0,-491.112:432:204:226:8397:7311 . . . . . . . . . . . . . . . . . . +chr15 63351840 . C A 4681.66 . AB=0;ABP=0;AC=38;AF=1;AN=60;AO=225;CIGAR=1X;DP=7654;DPB=225;DPRA=0;EPP=16.2225;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9822;MQMR=0;NS=1;NUMALT=1;ODDS=316.521;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8492;QR=0;RO=0;RPL=136;RPP=24.3293;RPPR=0;RPR=89;RUN=1;SAF=84;SAP=34.3664;SAR=141;SF=0,1,2,3,4,5,7,8,9,10,12,13,15,16,20,21,22,23,24,25,26,27,28,29,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-734.473,-67.7318,0:225:0:225:8492:0:0,225 0/1:-162.752,0,-118.565:106:47:59:2248:1734 0/1:-322.307,0,-358.431:264:136:128:4664:5067 0/1:-315.747,0,-329.786:250:128:121:4518:4684:128,121 0/1:-302.044,0,-462.917:294:173:121:4511:6395 0/1:-413.16,0,-393.236:307:151:156:5863:5611:151,156 . 1/1:-1090.8,-102.952,0:343:0:342:12616:0 0/1:-255.986,0,-281.572:207:107:99:3670:3965 0/1:-237.122,0,-247.181:186:94:92:3426:3499:94,92 1/1:-647.329,-59.905,0:199:0:199:7495:0:0,199 . 1/1:-1254.6,-113.551,0:388:1:387:14533:33:1,387 0/1:-422.504,0,-498.587:359:192:165:6120:7010 . 1/1:-916.94,-86.6966,0:288:0:288:10632:0 0/1:-333.348,0,-329.378:251:126:125:4729:4677:126,125 . . . 0/1:-422.611,0,-421.233:319:160:159:5994:5974:160,159 0/1:-300.667,0,-75.8933:147:38:109:3975:1390:38,109 0/1:-189.846,0,-215.8:157:83:74:2734:3024 0/1:-322.375,0,-423.692:283:157:125:4708:5876 0/1:-152.724,0,-143.87:114:54:59:2152:2054:54,59 1/1:-1413.62,-133.958,0:445:0:445:16340:0:0,445 0/1:-379.225,0,-400.558:307:155:152:5435:5721 0/1:-510.368,0,-369.057:345:151:194:7092:5465:151,194 0/1:-239.251,0,-245.42:185:93:92:3403:3472 1/1:-1128.97,-107.468,0:357:0:357:13045:0 . 0/1:-287.674,0,-230.505:200:91:109:4013:3351 0/1:-326.908,0,-401.374:279:151:128:4743:5599 1/1:-641.515,-59.6039,0:198:0:198:7408:0 0/1:-264.392,0,-434.018:268:159:109:4001:5939 0/1:-173.677,0,-166.11:128:63:65:2450:2360 0/1:-304.064,0,-364.262:255:138:117:4399:5103 +chr15 63351873 . T C 1835.44 . AB=0.41791;ABP=6.93191;AC=11;AF=0.5;AN=22;AO=28;CIGAR=1X;DP=1617;DPB=67;DPRA=0;EPP=3.32051;EPPR=5.73856;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=143.94;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1063;QR=1495;RO=39;RPL=17;RPP=5.80219;RPPR=9.74743;RPR=11;RUN=1;SAF=4;SAP=34.0313;SAR=24;SF=1,2,3,5,6,20,21,22,23,30,32;SRF=10;SRP=23.1103;SRR=29;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-71.9834,0,-109.191:67:39:28:1063:1495 0/1:-244.389,0,-226.335:179:87:92:3454:3252 0/1:-210.083,0,-176.042:148:68:80:2945:2546:68,80 . 0/1:-300.817,0,-255.618:209:97:112:4221:3693:97,112 0/1:-147.378,0,-164.59:118:63:55:2118:2306:63,55 . . . . . . . . . . . . . 0/1:-266.946,0,-290.731:210:109:101:3820:4093:109,101 0/1:-49.4899,0,-201.718:96:71:25:899:2661:71,25 0/1:-144.241,0,-128.936:105:50:55:2027:1848 0/1:-264.198,0,-212.365:181:82:98:3688:3080 . . . . . . 0/1:-180.558,0,-169.707:129:63:66:2541:2413 . 0/1:-287.482,0,-171.116:175:69:105:3932:2584 . . . . +chr15 63354009 . G C 1384.01 . AB=0.377049;ABP=19.0294;AC=2;AF=0.5;AN=4;AO=46;CIGAR=1X;DP=296;DPB=122;DPRA=0;EPP=7.73089;EPPR=12.2676;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.9868;NS=1;NUMALT=1;ODDS=223.899;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1681;QR=2650;RO=76;RPL=37;RPP=40.0197;RPPR=86.3263;RPR=9;RUN=1;SAF=17;SAP=9.80795;SAR=29;SF=8,26;SRF=30;SRP=10.3247;SRR=46;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-109.792,0,-192.005:122:76:46:1681:2650 . . . . . . . . . . . . . . . . . 0/1:-193.434,0,-228.688:174:92:81:2817:3222 . . . . . . . . . . +chr15 63358032 . CTTTTTTTTTTTTTTCTCATTGTG CTTTTTTTTTTTTTCTCATTGTG 1410.55 . AB=0.139706;ABP=156.355;AC=7;AF=0.5;AN=14;AO=19;CIGAR=1M1D22M;DP=1563;DPB=136;DPRA=0;EPP=22.325;EPPR=12.5178;GTI=0;LEN=1;MEANALT=16;MQM=40.8421;MQMR=41.973;NS=1;NUMALT=1;ODDS=23.196;PAIRED=0.894737;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=613;QR=2586;RO=74;RPL=9;RPP=3.12459;RPPR=29.4201;RPR=10;RUN=1;SAF=12;SAP=5.8675;SAR=7;SF=0,6,8,12,24,25,26;SRF=42;SRP=5.94472;SRR=32;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TPM1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58304847;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=0.1194;AF_popmax=0.3831;AF_male=0.1228;AF_female=0.1149;AF_raw=0.1180;AF_afr=0.0775;AF_sas=.;AF_amr=0.1909;AF_eas=0.3831;AF_nfe=0.1103;AF_fin=0.1246;AF_asj=0.0940;AF_oth=0.1427;non_topmed_AF_popmax=0.3815;non_neuro_AF_popmax=0.3831;non_cancer_AF_popmax=.;controls_AF_popmax=0.3844;Kaviar_AF=0.0001921;Kaviar_AC=5;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 GT:GL:DP:RO:AO:QA:QR:AD 0/1:-25.1156,0,-199.133:136:74:19:613:2586:74,19 . . . . . 0/1:-21.792,0,-146.652:103:57:14:499:1968:57,14 . 0/1:.,.,-146.999:146:60:50:1551:2140 . . . 0/1:-241.427,0,-200.026:280:88:117:3507:3087:88,117 . . . . . . . . . . . 0/1:-66.4643,0,-55.0967:86:24:35:973:840:24,35 0/1:-361.783,0,-391.681:475:160:171:5326:5633:160,171 0/1:.,.,-339.938:337:139:138:4076:4859 . . . . . . . . . . +chr15 63362179 . G A 1112.71 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=47;CIGAR=1X;DP=94;DPB=94;DPRA=0;EPP=3.0565;EPPR=3.42611;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=256.212;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1728;QR=1768;RO=47;RPL=37;RPP=36.6912;RPPR=36.6912;RPR=10;RUN=1;SAF=17;SAP=10.8184;SAR=30;SF=35;SRF=23;SRP=3.0565;SRR=24;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=TPM1;GeneDetail.refGene=NM_001330351:c.*37G>A\x3bNM_001018008:c.*37G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0247604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73440433;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0067;ExAC_nontcga_AFR=0.0738;ExAC_nontcga_AMR=0.0024;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0002;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=6.121e-05;AF=0.0193;AF_popmax=0.0686;AF_male=0.0195;AF_female=0.0190;AF_raw=0.0193;AF_afr=0.0686;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0001;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0689;non_neuro_AF_popmax=0.0676;non_cancer_AF_popmax=.;controls_AF_popmax=0.0680;Kaviar_AF=0.0064876;Kaviar_AC=1003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0002879|hsa-miR-507|Experimental,MIMAT0003164|hsa-miR-544a|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.659074;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-121.443,0,-124.988:94:47:47:1728:1768 . +chr15 63363401 . CGT CATTTTGTTTTGT,CATTTTGT 2089.70 . AB=0;ABP=0;AC=31,22;AF=1;AN=74;AO=136;CIGAR=1M10I2M;DP=5865;DPB=613.333;DPRA=0;EPP=95.234;EPPR=0;GTI=0;LEN=10;MEANALT=4;MQM=29.6618;MQMR=0;NS=1;NUMALT=1;ODDS=193.141;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3465;QR=0;RO=0;RPL=87;RPP=26.0662;RPPR=0;RPR=49;RUN=1;SAF=67;SAP=3.07417;SAR=69;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=ins;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;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 GT:GL:DP:RO:AO:QA:QR:AD 1/1:-289.586,-40.9401,0,.,.,.:150:0:136,.:3465,.:0:0,136 0/1:.,.,-48.222,.,.,.:41:21:18,.:652,.:773 0/1:.,.,-133.968,.,.,.:121:58:54,.:1770,.:2052 0/1:-118.635,0,-203.302,.,.,.:157:80:72,.:1973,.:2940:80,72 1/2:.,.,-140.255,.,0,-126.833:163:0:71,76:2476,2694:0 0/1:-154.419,0,-245.441,.,.,.:200:99:86,.:2162,.:3576:99,86 0/2:-148.334,.,.,0,.,-159.346:141:64:.,65:.,2188:2333:64,65 1/2:.,.,-189.322,.,0,-116.484:174:1:68,88:2385,3128:38 1/2:.,.,-167.419,.,0,-77.3834:137:0:47,77:1711,2790:0 0/1:-68.7096,0,-218.95,.,.,.:131:83:37,.:1231,.:3017:83,37 1/2:-255.44,-142.262,-125.705,-113.161,0,-94.7984:128:0:55,61:1531,1886:0:0,55,61 2/2:.,.,.,.,.,0:217:0:.,197:.,6632:0 2/2:-494.368,.,.,-55.3895,.,0:210:0:.,184:.,5827:0:0,184 1/2:.,.,-204.413,.,0,-185.117:224:0:105,97:3525,3399:0 0/2:.,.,.,.,.,-191.381:148:78:.,65:.,2345:2887 1/1:.,.,0,.,.,.:117:0:98,.:3330,.:0 1/2:-301.067,-198.77,-182.815,-102.271,0,-73.0715:168:0:53,97:1411,2733:0:0,53,97 2/2:.,.,.,.,.,0:185:0:.,159:.,5671:0 0/2:.,.,.,.,.,-156.365:144:64:.,76:.,2616:2333 0/2:.,.,.,.,.,-218.998:173:88:.,74:.,2608:3137 0/1:-98.7578,0,-285.956,.,.,.:187:111:68,.:1832,.:4040:111,68 0/1:-55.1508,0,-72.2533,.,.,.:76:34:35,.:900,.:1191:34,35 0/1:.,.,-189.612,.,.,.:156:77:67,.:2220,.:2695 0/1:.,.,-212.522,.,.,.:162:84:66,.:2441,.:3078 0/2:-74.9367,.,.,0,.,-97.7419:73:38:.,34:.,1024:1399:38,34 1/2:-547.341,-292.906,-256.782,-254.441,0,-218.92:258:0:120,118:3432,3850:0:0,120,118 1/2:.,.,-270.889,.,0,-141.077:243:0:93,130:2836,4286:0 0/1:-182.255,0,-300.44,.,.,.:242:118:115,.:3008,.:4283:118,115 0/1:.,.,-155.772,.,.,.:116:64:44,.:1350,.:2301 1/1:.,.,0,.,.,.:235:0:195,.:6158,.:0 0/2:.,.,.,.,.,-219.551:180:88:.,79:.,2749:3170 1/2:.,.,-150.327,.,0,-103.962:147:0:61,79:2035,2677:0 0/1:.,.,-276.601,.,.,.:176:105:57,.:1905,.:3799 1/1:.,.,0,.,.,.:82:0:79,.:2677,.:0 0/1:.,.,-201.947,.,.,.:151:79:61,.:2180,.:2871 0/2:.,.,.,.,.,-149.04:120:59:.,47:.,1717:2159 0/1:.,.,-168.826,.,.,.:132:67:55,.:1781,.:2465 +chr15 73614834 . T C 5645.41 . AB=0;ABP=0;AC=68;AF=1;AN=74;AO=170;CIGAR=1X;DP=7415;DPB=170;DPRA=0;EPP=3.06139;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.6529;MQMR=0;NS=1;NUMALT=1;ODDS=240.275;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6270;QR=0;RO=0;RPL=104;RPP=21.455;RPPR=0;RPR=66;RUN=1;SAF=92;SAP=5.51388;SAR=78;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-541.058,-51.1751,0:170:0:170:6270:0:0,170 1/1:-228.883,-21.3731,0:71:0:71:2634:0 1/1:-793.716,-75.5585,0:253:0:251:9184:0 1/1:-642.301,-59.6039,0:198:0:198:7430:0:0,198 1/1:-736.397,-70.441,0:234:0:234:8524:0 1/1:-838.966,-80.074,0:266:0:266:9710:0:0,266 1/1:-524.9,-49.67,0:165:0:165:6113:0:0,165 1/1:-889.228,-84.8905,0:283:0:282:10310:0 1/1:-499.104,-47.2617,0:157:0:157:5753:0 1/1:-549.985,-53.2823,0:177:0:177:6357:0:0,177 1/1:-716.234,-67.7318,0:225:0:225:8269:0:0,225 1/1:-667.299,-62.9153,0:209:0:209:7721:0 1/1:-785.137,-74.9565,0:250:0:249:9136:0:0,249 1/1:-729.094,-69.839,0:232:0:232:8430:0 1/1:-522.279,-48.7669,0:162:0:162:6024:0 1/1:-796.425,-76.7627,0:256:0:255:9241:0 1/1:-646.625,-61.4101,0:205:0:204:7474:0:0,204 1/1:-813.382,-76.7627,0:255:0:255:9400:0 1/1:-435.438,-40.338,0:134:0:134:5020:0 1/1:-814.869,-76.4616,0:254:0:254:9401:0 1/1:-732.075,-69.5379,0:232:0:231:8458:0:0,231 1/1:-316.067,-30.7051,0:102:0:102:3648:0:0,102 1/1:-345.803,-33.1133,0:110:0:110:3980:0 1/1:-843.412,-80.074,0:266:0:266:9778:0 0/1:-201.094,0,-135.493:127:53:74:2761:2007:53,74 0/1:-374.667,0,-424.735:312:164:148:5412:6055:164,148 0/1:-299.597,0,-250.926:223:101:122:4224:3665 0/1:-316.792,0,-288.412:236:115:121:4473:4153:115,121 1/1:-437.977,-41.2411,0:137:0:137:5066:0 1/1:-858.279,-80.8854,0:275:1:274:9929:19 1/1:-553.18,-52.6803,0:175:0:175:6379:0 1/1:-460.535,-43.2566,0:150:1:149:5348:19 0/1:-251.334,0,-277.063:203:105:98:3598:3909 0/1:-208.123,0,-170.899:144:65:79:2897:2477 1/1:-646.207,-61.4101,0:204:0:204:7495:0 1/1:-472.278,-43.9504,0:146:0:146:5447:0 1/1:-691.192,-65.0225,0:217:0:216:7972:0 +chr15 73615097 . T C 311.06 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=20;CIGAR=1X;DP=40;DPB=40;DPRA=0;EPP=38.1882;EPPR=24.2907;GTI=0;LEN=1;MEANALT=1;MQM=41.1;MQMR=42;NS=1;NUMALT=1;ODDS=71.6255;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=704;QR=700;RO=20;RPL=19;RPP=38.1882;RPPR=24.2907;RPR=1;RUN=1;SAF=0;SAP=46.4397;SAR=20;SF=32;SRF=0;SRP=46.4397;SRR=20;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-49.4681,0,-49.1415:40:20:20:704:700 . . . . +chr15 73615205 . C T 103.10 . AB=0.615385;ABP=4.51363;AC=1;AF=0.5;AN=2;AO=8;CIGAR=1X;DP=13;DPB=13;DPRA=0;EPP=3.0103;EPPR=9.52472;GTI=0;LEN=1;MEANALT=2;MQM=36.75;MQMR=41.3333;NS=1;NUMALT=1;ODDS=1.0394;PAIRED=0.875;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=214;QR=87;RO=3;RPL=3;RPP=4.09604;RPPR=3.73412;RPR=5;RUN=1;SAF=3;SAP=4.09604;SAR=5;SF=29;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.G3229A:p.G1077S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs746291340;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.006;SIFT_converted_rankscore=0.614;SIFT_pred=D;Polyphen2_HDIV_score=0.493;Polyphen2_HDIV_rankscore=0.351;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.025;Polyphen2_HVAR_rankscore=0.193;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.874;MutationTaster_converted_rankscore=0.356;MutationTaster_pred=D;MutationAssessor_score=1.04;MutationAssessor_score_rankscore=0.263;MutationAssessor_pred=L;FATHMM_score=-5.46;FATHMM_converted_rankscore=0.991;FATHMM_pred=D;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.191;PROVEAN_pred=N;VEST3_score=0.309;VEST3_rankscore=0.370;MetaSVM_score=0.883;MetaSVM_rankscore=0.954;MetaSVM_pred=D;MetaLR_score=0.851;MetaLR_rankscore=0.950;MetaLR_pred=D;M-CAP_score=0.797;M-CAP_rankscore=0.984;M-CAP_pred=D;REVEL_score=0.403;REVEL_rankscore=0.720;MutPred_score=0.199;MutPred_rankscore=0.113;CADD_raw=4.641;CADD_raw_rankscore=0.622;CADD_phred=24.5;DANN_score=0.997;DANN_rankscore=0.803;fathmm-MKL_coding_score=0.516;fathmm-MKL_coding_rankscore=0.287;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.319;Eigen-PC-raw=-0.282;GenoCanyon_score=0.988;GenoCanyon_score_rankscore=0.314;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.450;integrated_confidence_value=0;GERP++_RS=2.84;GERP++_RS_rankscore=0.321;phyloP100way_vertebrate=0.931;phyloP100way_vertebrate_rankscore=0.283;phyloP20way_mammalian=0.742;phyloP20way_mammalian_rankscore=0.308;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.957;phastCons20way_mammalian_rankscore=0.436;SiPhy_29way_logOdds=8.297;SiPhy_29way_logOdds_rankscore=0.310;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.76e-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=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\x3d99.921403;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-14.7043,0,-4.39747:13:3:8:214:87 . . . . . . . +chr15 73615786 . G C 2003.72 . AB=0.511111;ABP=3.20332;AC=1;AF=0.5;AN=2;AO=92;CIGAR=1X;DP=180;DPB=180;DPRA=0;EPP=27.1797;EPPR=26.9963;GTI=0;LEN=1;MEANALT=2;MQM=41.9783;MQMR=41.954;NS=1;NUMALT=1;ODDS=461.375;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3050;QR=3113;RO=87;RPL=66;RPP=40.775;RPPR=24.0012;RPR=26;RUN=1;SAF=50;SAP=4.52089;SAR=42;SF=6;SRF=42;SRP=3.23494;SRR=45;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-213.322,0,-217.669:180:87:92:3050:3113:87,92 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr15 73615878 . C T 1494.84 . AB=0.48855;ABP=3.15949;AC=4;AF=0.5;AN=8;AO=64;CIGAR=1X;DP=569;DPB=131;DPRA=0;EPP=11.6962;EPPR=10.3026;GTI=0;LEN=1;MEANALT=1;MQM=41.1562;MQMR=42;NS=1;NUMALT=1;ODDS=343.706;PAIRED=0.953125;PAIREDR=0.985075;PAO=0;PQA=0;PQR=0;PRO=0;QA=2293;QR=2432;RO=67;RPL=41;RPP=14.0034;RPPR=14.7103;RPR=23;RUN=1;SAF=31;SAP=3.14602;SAR=33;SF=18,24,26,32;SRF=26;SRP=10.3026;SRR=41;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . 0/1:-157.425,0,-172.582:131:67:64:2293:2432 . . . . . 0/1:-110.05,0,-97.0406:82:38:44:1559:1400:38,44 . 0/1:-207.828,0,-316.913:216:126:89:3151:4410 . . . . . 0/1:-158.093,0,-192.051:140:75:65:2301:2690 . . . . +chr15 73615912 . G A 1418.27 . AB=0.536;ABP=4.41741;AC=1;AF=0.5;AN=2;AO=67;CIGAR=1X;DP=125;DPB=125;DPRA=0;EPP=6.93191;EPPR=5.40641;GTI=0;LEN=1;MEANALT=1;MQM=41.2836;MQMR=41.6379;NS=1;NUMALT=1;ODDS=292.712;PAIRED=1;PAIREDR=0.948276;PAO=0;PQA=0;PQR=0;PRO=0;QA=2207;QR=2013;RO=58;RPL=53;RPP=52.306;RPPR=36.7056;RPR=14;RUN=1;SAF=28;SAP=6.93191;SAR=39;SF=15;SRF=29;SRP=3.0103;SRR=29;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=HCN4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=HCN4:NM_005477:exon8:c.C2522T:p.S841L;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200546024;CLNALLELEID=188631;CLNDN=Brugada_syndrome_8|not_provided;CLNDISDB=MedGen:C2751083,OMIM:613123|MedGen:CN517202;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Likely_benign;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=0.738;Polyphen2_HVAR_rankscore=0.538;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.520;MutationTaster_pred=D;MutationAssessor_score=1.845;MutationAssessor_score_rankscore=0.488;MutationAssessor_pred=L;FATHMM_score=-1.35;FATHMM_converted_rankscore=0.800;FATHMM_pred=T;PROVEAN_score=-2.22;PROVEAN_converted_rankscore=0.498;PROVEAN_pred=N;VEST3_score=0.664;VEST3_rankscore=0.675;MetaSVM_score=-0.121;MetaSVM_rankscore=0.796;MetaSVM_pred=T;MetaLR_score=0.471;MetaLR_rankscore=0.797;MetaLR_pred=T;M-CAP_score=0.325;M-CAP_rankscore=0.916;M-CAP_pred=D;REVEL_score=0.514;REVEL_rankscore=0.795;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.862;CADD_raw_rankscore=0.521;CADD_phred=23.5;DANN_score=0.997;DANN_rankscore=0.814;fathmm-MKL_coding_score=0.996;fathmm-MKL_coding_rankscore=0.977;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.451;Eigen-PC-raw=0.419;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=3.59;GERP++_RS_rankscore=0.401;phyloP100way_vertebrate=4.467;phyloP100way_vertebrate_rankscore=0.596;phyloP20way_mammalian=0.860;phyloP20way_mammalian_rankscore=0.375;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.236;phastCons20way_mammalian_rankscore=0.225;SiPhy_29way_logOdds=13.575;SiPhy_29way_logOdds_rankscore=0.612;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=9.597e-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=0.0015;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0001;AF_male=5.73e-05;AF_female=0.0002;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=0.0001;non_neuro_AF_popmax=0.0001;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\x3d99.725568;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-154.094,0,-137.064:125:58:67:2207:2013 . . . . . . . . . . . . . . . . . . . . . +chr15 73617804 . G T 807.94 . AB=0.527027;ABP=3.47981;AC=1;AF=0.5;AN=2;AO=39;CIGAR=1X;DP=74;DPB=74;DPRA=0;EPP=3.06598;EPPR=3.07234;GTI=0;LEN=1;MEANALT=1;MQM=41.8462;MQMR=42;NS=1;NUMALT=1;ODDS=168.557;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1287;QR=1190;RO=35;RPL=26;RPP=12.42;RPPR=20.9405;RPR=13;RUN=1;SAF=8;SAP=32.4644;SAR=31;SF=6;SRF=10;SRP=16.9698;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-90.5575,0,-82.1224:74:35:39:1287:1190:35,39 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr15 73621946 . G A 3190.28 . AB=0.51074;ABP=3.43008;AC=4;AF=0.5;AN=8;AO=214;CIGAR=1X;DP=1333;DPB=419;DPRA=0;EPP=7.06913;EPPR=9.14152;GTI=0;LEN=1;MEANALT=2;MQM=36.4907;MQMR=39.1225;NS=1;NUMALT=1;ODDS=1039.97;PAIRED=0.990654;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7650;QR=7647;RO=204;RPL=67;RPP=67.9515;RPPR=81.7368;RPR=147;RUN=1;SAF=134;SAP=32.5991;SAR=80;SF=2,10,14,21;SRF=133;SRP=43.9277;SRR=71;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-468.91,0,-510.361:419:204:214:7650:7647 . . . . . . . 0/1:-495.353,0,-625.6:457:243:213:7777:9164:243,213 . . . 0/1:-345.427,0,-434.913:316:168:148:5535:6326 . . . . . . 0/1:-31.9392,0,-315.144:141:116:25:850:4227:116,25 . . . . . . . . . . . . . . . +chr15 73660505 . C T 1167.66 . AB=0.455556;ABP=4.55446;AC=6;AF=0.5;AN=8;AO=41;CIGAR=1X;DP=250;DPB=90;DPRA=0;EPP=3.06326;EPPR=3.05462;GTI=0;LEN=1;MEANALT=1;MQM=41.9024;MQMR=42;NS=1;NUMALT=1;ODDS=210.904;PAIRED=0.97561;PAIREDR=0.979592;PAO=0;PQA=0;PQR=0;PRO=0;QA=1458;QR=1729;RO=49;RPL=9;RPP=31.0276;RPPR=70.4146;RPR=32;RUN=1;SAF=20;SAP=3.06326;SAR=21;SF=7,23,27,28;SRF=24;SRP=3.05462;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-100.446,0,-123.907:90:49:41:1458:1729 . . . . . . . . . . . . . . . 1/1:-201.609,-19.2659,0:64:0:64:2314:0 . . . 0/1:-82.9839,0,-50.1429:57:24:33:1145:821:24,33 1/1:-116.671,-11.7402,0:39:0:39:1354:0 . . . . . . . . +chr17 8192202 . C G 407.33 . AB=0.444444;ABP=4.21667;AC=1;AF=0.5;AN=2;AO=20;CIGAR=1X;DP=45;DPB=45;DPRA=0;EPP=4.74748;EPPR=3.09716;GTI=0;LEN=1;MEANALT=1;MQM=41.9;MQMR=42;NS=1;NUMALT=1;ODDS=93.7911;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=690;QR=914;RO=25;RPL=6;RPP=9.95901;RPPR=17.6895;RPR=14;RUN=1;SAF=12;SAP=4.74748;SAR=8;SF=30;SRF=18;SRP=13.5202;SRR=7;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR3;Gene.refGene=SLC25A35;GeneDetail.refGene=NM_201520:c.*732G>C\x3bNM_001320872:c.*599G>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00179712;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370316330;CLNALLELEID=376876;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0018;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.925e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0096;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=0.0069;AF_oth=0;non_topmed_AF_popmax=0.0002;non_neuro_AF_popmax=0.0002;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0014424;Kaviar_AC=223;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000548740|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1806025|N/A|RBL2|PAZAR,OREG1792302|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-47.0512,0,-66.3493:45:25:20:690:914 . . . . . . +chr17 8192377 . G T 1959.34 . AB=0.46;ABP=5.78978;AC=1;AF=0.5;AN=2;AO=92;CIGAR=1X;DP=200;DPB=200;DPRA=0;EPP=10.6577;EPPR=25.1106;GTI=0;LEN=1;MEANALT=2;MQM=41.1739;MQMR=41.9626;NS=1;NUMALT=1;ODDS=451.154;PAIRED=0.956522;PAIREDR=0.962617;PAO=0;PQA=0;PQR=0;PRO=0;QA=3218;QR=3904;RO=107;RPL=81;RPP=118.665;RPPR=117.165;RPR=11;RUN=1;SAF=34;SAP=16.6056;SAR=58;SF=25;SRF=37;SRP=25.1106;SRR=70;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RANGRF;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=RANGRF:NM_001177801:exon2:c.G181T:p.E61X,RANGRF:NM_001177802:exon2:c.G181T:p.E61X,RANGRF:NM_001330127:exon2:c.G181T:p.E61X,RANGRF:NM_016492:exon2:c.G181T:p.E61X;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140704891;CLNALLELEID=188670;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=0.072;LRT_converted_rankscore=0.215;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=9.919;CADD_raw_rankscore=0.965;CADD_phred=36;DANN_score=0.989;DANN_rankscore=0.485;fathmm-MKL_coding_score=0.826;fathmm-MKL_coding_rankscore=0.415;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.402;Eigen-PC-raw=0.146;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=4.4;GERP++_RS_rankscore=0.522;phyloP100way_vertebrate=2.189;phyloP100way_vertebrate_rankscore=0.420;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.942;phastCons100way_vertebrate_rankscore=0.325;phastCons20way_mammalian=0.585;phastCons20way_mammalian_rankscore=0.286;SiPhy_29way_logOdds=12.012;SiPhy_29way_logOdds_rankscore=0.524;Interpro_domain=Mog1/PsbP,_alpha/beta/alpha_sandwich;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0054;ExAC_nontcga_ALL=0.0040;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0007;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0114;ExAC_nontcga_NFE=0.0055;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0020;AF=0.0042;AF_popmax=0.0049;AF_male=0.0041;AF_female=0.0045;AF_raw=0.0042;AF_afr=0.0005;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0049;AF_fin=0.0130;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0049;non_neuro_AF_popmax=0.0050;non_cancer_AF_popmax=.;controls_AF_popmax=0.0049;Kaviar_AF=0.0039521;Kaviar_AC=611;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;ORegmiRNA=.;nCER95=Name\x3d97.301241;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-217.675,0,-279.847:200:107:92:3218:3904:107,92 . . . . . . . . . . . +chr17 8192922 . C T 2147.95 . AB=0.474026;ABP=3.91273;AC=5;AF=0.5;AN=8;AO=73;CIGAR=1X;DP=506;DPB=154;DPRA=0;EPP=4.46786;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.5556;NS=1;NUMALT=1;ODDS=395.385;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2624;QR=2924;RO=81;RPL=48;RPP=18.746;RPPR=35.8505;RPR=25;RUN=1;SAF=23;SAP=24.6953;SAR=50;SF=12,13,14,20;SRF=28;SRP=19.7655;SRR=53;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-182.001,0,-207.636:154:81:73:2624:2924:81,73 0/1:-215.808,0,-146.262:145:59:85:3010:2179 0/1:-109.003,0,-91.4044:81:38:42:1531:1340 . . . . . 1/1:-394.342,-37.9298,0:126:0:126:4573:0:0,126 . . . . . . . . . . . . . . . . +chr17 37822311 . A C 7548.14 . AB=0;ABP=0;AC=56;AF=1;AN=70;AO=327;CIGAR=1X;DP=11710;DPB=328;DPRA=0;EPP=32.8199;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.8838;MQMR=42;NS=1;NUMALT=1;ODDS=448.535;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=11716;QR=31;RO=1;RPL=239;RPP=154.422;RPPR=5.18177;RPR=88;RUN=1;SAF=123;SAP=46.5792;SAR=204;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,26,27,28,29,30,31,32,33,34,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1014.59,-95.671,0:328:1:327:11716:31:1,327 1/1:-347.022,-33.4143,0:111:0:111:3993:0 1/1:-1097.56,-108.371,0:361:0:360:12662:0 0/1:-470.527,0,-330.064:315:135:180:6516:4917:135,180 0/1:-584.565,0,-598.81:464:234:230:8346:8500 1/1:-1321.05,-124.999,0:421:1:419:15264:16:1,419 1/1:-828.171,-80.074,0:266:0:266:9526:0:0,266 0/1:-638.765,0,-640.262:508:254:254:9151:9131 1/1:-907.455,-86.6966,0:288:0:288:10479:0 1/1:-1059.39,-101.146,0:336:0:336:12214:0:0,336 1/1:-1226.25,-115.362,0:393:2:391:14182:31:2,391 1/1:-1155.31,-116.198,0:386:0:386:13313:0 1/1:-1505.36,-144.249,0:485:1:483:17410:16:1,483 0/1:-434.56,0,-497.298:378:199:177:6309:7017 1/1:-847.009,-77.9789,0:279:2:276:9836:64 1/1:-1277.12,-125.53,0:417:0:417:14749:0 0/1:-473.261,0,-374.741:332:151:181:6618:5485:151,181 1/1:-1329.87,-127.938,0:426:0:425:15361:0 1/1:-573.323,-55.6906,0:185:0:185:6642:0 1/1:-1239.95,-119.114,0:401:1:400:14363:16 1/1:-1298.31,-125.228,0:416:0:416:15021:0:0,416 1/1:-366.022,-34.0482,0:126:2:124:4241:41:2,124 1/1:-372.282,-35.6274,0:123:1:122:4293:14 0/1:-564.179,0,-606.067:454:233:221:8082:8554 0/1:-148.797,0,-142.735:115:56:59:2107:2038:56,59 . 0/1:-452.217,0,-469.51:399:197:198:6648:6802 1/1:-1245.75,-122.09,0:412:1:410:14360:18:1,410 1/1:-609.393,-59.6039,0:198:0:198:7018:0 1/1:-1726.2,-170.985,0:569:0:568:19961:0 0/1:-335.591,0,-378.065:284:148:136:4844:5328 0/1:-228.349,0,-216.397:182:88:94:3250:3111 0/1:-417.369,0,-506.639:369:199:169:6085:7110 0/1:-328.198,0,-418.116:296:163:132:4805:5830 0/1:-373.716,0,-413.96:314:165:149:5393:5908 . 0/1:-538.321,0,-390.563:373:164:208:7510:5795 +chr17 39912145 . T A 2732.90 . AB=0.367816;ABP=16.2139;AC=61;AF=0.5;AN=72;AO=32;CIGAR=1X;DP=3967;DPB=87;DPRA=0;EPP=7.35324;EPPR=3.36563;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=148.458;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1179;QR=2051;RO=55;RPL=28;RPP=42.0968;RPPR=57.0602;RPR=4;RUN=1;SAF=16;SAP=3.0103;SAR=16;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,35,36;SRF=22;SRP=7.78754;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-76.0745,0,-151.509:87:55:32:1179:2051:55,32 1/1:-96.6763,-9.0309,0:30:0:30:1120:0 1/1:-337.52,-33.1133,0:110:0:110:3956:0 1/1:-405.976,-37.9298,0:127:0:126:4699:0:0,126 1/1:-576.917,-53.2823,0:178:0:177:6697:0 0/1:-187.913,0,-210.114:152:79:73:2711:2959:79,73 1/1:-294.651,-27.0927,0:90:0:90:3411:0:0,90 1/1:-520.876,-48.7669,0:162:0:162:6063:0 1/1:-340.263,-31.9092,0:106:0:106:3951:0 1/1:-299.565,-27.9958,0:94:0:93:3470:0:0,93 1/1:-393.625,-37.0267,0:123:0:123:4591:0:0,123 0/1:-182.875,0,-112.835:118:47:71:2519:1742 1/1:-509.622,-47.5627,0:158:0:158:5900:0:0,158 0/1:-171.018,0,-162.411:131:64:67:2428:2333 1/1:-260.662,-24.0824,0:80:0:80:3014:0 1/1:-393.978,-38.5318,0:129:0:128:4585:0 0/1:-142.738,0,-153.301:113:59:54:2048:2172:59,54 1/1:-394.595,-35.6298,0:124:1:123:4621:17 1/1:-255.697,-24.9855,0:83:0:83:2981:0 0/1:-166.527,0,-147.952:119:56:63:2337:2127 1/1:-454.623,-42.4452,0:141:0:141:5294:0:0,141 0/1:-88.2417,0,-32.597:46:14:32:1176:534:14,32 1/1:-151.911,-14.4494,0:48:0:48:1751:0 0/1:-134.955,0,-234.179:139:84:55:2044:3194 1/1:-230.948,-21.0721,0:70:0:70:2671:0:0,70 0/1:-207.496,0,-232.861:168:89:79:2986:3278:89,79 1/1:-391.319,-39.4349,0:131:0:131:4527:0 1/1:-434.289,-40.6391,0:135:0:135:5026:0:0,135 . 1/1:-529.065,-50.573,0:168:0:168:6156:0 1/1:-315.126,-29.5009,0:98:0:98:3635:0 0/1:-84.5607,0,-67.0675:60:28:32:1181:978 1/1:-389.945,-36.1236,0:120:0:120:4515:0 0/1:-88.2119,0,-132.644:85:48:37:1350:1832 1/1:-265.294,-24.9855,0:83:0:83:3077:0 1/1:-175.787,-16.5567,0:55:0:55:2027:0 1/1:-335.745,-31.6082,0:106:0:105:3935:0 +chr17 39913645 . T C 5007.04 . AB=0.491228;ABP=3.16268;AC=61;AF=0.5;AN=72;AO=112;CIGAR=1X;DP=7331;DPB=228;DPRA=0;EPP=4.25114;EPPR=6.67934;GTI=0;LEN=1;MEANALT=1;MQM=41.9464;MQMR=42;NS=1;NUMALT=1;ODDS=604.207;PAIRED=0.991071;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4128;QR=4367;RO=116;RPL=9;RPP=174.324;RPPR=154.639;RPR=103;RUN=1;SAF=65;SAP=9.29206;SAR=47;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,35,36;SRF=72;SRP=17.6865;SRR=44;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-289.667,0,-309.53:228:116:112:4128:4367:116,112 0/1:-72.4616,0,-121.809:73:44:29:1085:1660 1/1:-611.073,-59.0019,0:197:0:196:7073:0 1/1:-606.914,-57.1957,0:190:0:190:6997:0:0,190 1/1:-890.394,-83.9874,0:279:0:279:10274:0 0/1:-290.438,0,-294.22:223:112:111:4125:4178:112,111 1/1:-405.021,-38.8329,0:131:0:129:4692:0:0,129 1/1:-922.627,-87.5997,0:291:0:291:10711:0 1/1:-606.93,-55.8804,0:198:1:197:7056:39 1/1:-600.865,-56.8947,0:189:0:189:6955:0:0,189 1/1:-580.484,-54.4864,0:182:0:181:6714:0:0,181 0/1:-344.453,0,-245.096:231:98:132:4765:3628 0/1:-306.539,0,-376.342:265:143:121:4449:5279:143,121 0/1:-250.982,0,-283.37:215:111:104:3651:4015 1/1:-583.665,-55.9916,0:186:0:186:6734:0 1/1:-679.312,-64.7215,0:216:0:215:7861:0 0/1:-262.613,0,-310.284:223:118:105:3867:4404:118,105 1/1:-693.395,-65.6245,0:218:0:218:8011:0 1/1:-439.174,-41.8432,0:140:0:139:5064:0 0/1:-271.396,0,-284.947:215:108:107:3873:4035 1/1:-794.434,-75.5585,0:251:0:251:9167:0:0,251 0/1:-219.41,0,-65.7632:111:31:80:2910:1139:31,80 1/1:-386.637,-38.2308,0:128:0:127:4464:0 1/1:-620.615,-58.3998,0:194:0:194:7160:0 1/1:-314.075,-30.404,0:101:0:101:3609:0:0,101 1/1:-988.133,-95.4265,0:318:0:317:11389:0:0,317 1/1:-785.905,-73.375,0:258:1:254:9098:39 1/1:-861.426,-73.2473,0:281:4:276:10059:125:4,276 . 1/1:-915.96,-88.1665,0:298:1:296:10586:14 1/1:-613.475,-57.7978,0:192:0:192:7071:0 0/1:-161.155,0,-182.711:135:70:65:2328:2573 1/1:-709.9,-66.8287,0:223:0:222:8187:0 0/1:-236.951,0,-259.496:189:99:90:3389:3652 1/1:-644.177,-60.8081,0:202:0:202:7431:0 1/1:-474.977,-44.8535,0:149:0:149:5473:0 1/1:-665.358,-61.6299,0:211:1:208:7702:15 +chr17 39913995 . G A 807.48 . AB=0.514706;ABP=3.13803;AC=1;AF=0.5;AN=2;AO=35;CIGAR=1X;DP=68;DPB=68;DPRA=0;EPP=8.03571;EPPR=3.0761;GTI=0;LEN=1;MEANALT=1;MQM=41.4286;MQMR=41.8788;NS=1;NUMALT=1;ODDS=175.574;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1259;QR=1208;RO=33;RPL=20;RPP=4.56135;RPPR=10.9724;RPR=15;RUN=1;SAF=9;SAP=20.9405;SAR=26;SF=3;SRF=8;SRP=22.0271;SRR=25;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon11:c.C1815T:p.A605A,JUP:NM_021991:exon11:c.C1815T:p.A605A;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543862977;CLNALLELEID=487694;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=.;ExAC_nontcga_ALL=3.945e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.907e-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=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\x3d98.737582;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-88.8545,0,-84.585:68:33:35:1259:1208:33,35 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr17 39919361 . G A 12508.80 . AB=0.527719;ABP=9.27007;AC=1;AF=0.5;AN=2;AO=495;CIGAR=1X;DP=938;DPB=938;DPRA=0;EPP=3.36563;EPPR=8.71535;GTI=0;LEN=1;MEANALT=3;MQM=41.4162;MQMR=41.6523;NS=1;NUMALT=1;ODDS=2474.71;PAIRED=0.983838;PAIREDR=0.972727;PAO=0;PQA=0;PQR=0;PRO=0;QA=17992;QR=15863;RO=440;RPL=179;RPP=85.3464;RPPR=69.4179;RPR=316;RUN=1;SAF=260;SAP=5.75206;SAR=235;SF=15;SRF=237;SRP=8.71535;SRR=203;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JUP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=JUP:NM_002230:exon8:c.C1371T:p.C457C,JUP:NM_021991:exon8:c.C1371T:p.C457C;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs531692563;CLNALLELEID=376037;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=8.477e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.924e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.841e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0004;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d98.788548;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-1268.13,0,-1091.14:938:440:495:17992:15863 . . . . . . . . . . . . . . . . . . . . . +chr17 39923614 . A G 7221.34 . AB=0;ABP=0;AC=67;AF=1;AN=72;AO=274;CIGAR=1X;DP=10171;DPB=274;DPRA=0;EPP=149.593;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.927;MQMR=0;NS=1;NUMALT=1;ODDS=384.45;PAIRED=0.992701;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9744;QR=0;RO=0;RPL=20;RPP=436.956;RPPR=0;RPR=254;RUN=1;SAF=223;SAP=237.466;SAR=51;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-849.388,-82.4822,0:274:0:274:9744:0:0,274 1/1:-277.225,-26.7917,0:90:0:89:3182:0 1/1:-818.941,-81.5791,0:271:0:271:9410:0 1/1:-818.2,-78.8699,0:262:0:262:9434:0:0,262 1/1:-955.596,-92.1152,0:306:0:306:10979:0 1/1:-1180.83,-114.993,0:382:0:382:13581:0:0,382 1/1:-737.759,-71.6451,0:238:0:238:8474:0:0,238 1/1:-1228.68,-120.111,0:399:0:399:14152:0 1/1:-731.136,-70.441,0:234:0:234:8402:0 1/1:-721.647,-70.441,0:234:0:234:8315:0:0,234 1/1:-964.172,-93.6203,0:312:0:311:11088:0:0,311 1/1:-1098.48,-109.72,0:369:1:368:12670:14 1/1:-1317.86,-127.336,0:424:0:423:15141:0:0,423 1/1:-936.146,-93.6203,0:311:0:311:10740:0 1/1:-651.77,-63.2163,0:210:0:210:7480:0 1/1:-895.952,-87.9008,0:293:0:292:10339:0 0/1:-376.517,0,-328.973:284:137:147:5301:4767:137,147 1/1:-1125.03,-108.371,0:360:0:360:12923:0 1/1:-627.226,-60.8081,0:202:0:202:7196:0 1/1:-1008.55,-97.5337,0:324:0:324:11610:0 1/1:-978.822,-94.3799,0:316:1:315:11264:16:1,315 0/1:-333.719,0,-46.0982:156:31:124:4348:1060:31,124 1/1:-506.549,-50.272,0:167:0:167:5790:0 1/1:-1014.36,-100.243,0:333:0:333:11666:0 1/1:-394.609,-38.5318,0:129:0:128:4521:0:0,128 0/1:-523.504,0,-632.022:481:259:222:7683:8919:259,222 1/1:-1072.25,-108.07,0:359:0:359:12314:0 1/1:-1173.68,-115.897,0:385:0:385:13488:0:0,385 . 1/1:-1337.45,-132.754,0:441:0:441:15439:0 1/1:-677.61,-65.3235,0:217:0:217:7769:0 0/1:-260.2,0,-250.174:215:109:106:3720:3653 1/1:-907.009,-88.5028,0:294:0:294:10452:0 0/1:-351.572,0,-303.756:256:121:135:4922:4368 1/1:-679.24,-67.1297,0:223:0:223:7821:0 1/1:-474.273,-46.0576,0:153:0:153:5443:0 1/1:-813.11,-80.074,0:267:0:266:9334:0 +chr17 39925713 . C T 7714.98 . AB=0.500506;ABP=3.0125;AC=12;AF=0.5;AN=22;AO=495;CIGAR=1X;DP=6649;DPB=989;DPRA=0;EPP=16.2804;EPPR=27.9889;GTI=0;LEN=1;MEANALT=3;MQM=41.5657;MQMR=41.6892;NS=1;NUMALT=1;ODDS=2597.95;PAIRED=0.981818;PAIREDR=0.989775;PAO=0;PQA=0;PQR=0;PRO=0;QA=17127;QR=17018;RO=489;RPL=110;RPP=334.763;RPPR=329.135;RPR=385;RUN=1;SAF=325;SAP=108.403;SAR=170;SF=7,8,12,21,22,23,27,30,31,35,36;SRF=317;SRP=96.3747;SRR=172;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . 0/1:-1188.24,0,-1182.62:989:489:495:17127:17018 0/1:-697.713,0,-651.452:547:263:283:9893:9412 . . . 0/1:-1256.11,0,-1100.31:961:449:511:17792:15967:449,511 . . . . . . . . 0/1:-108.742,0,-576.56:281:216:65:2208:7571:216,65 0/1:-349.827,0,-390.223:306:157:149:5056:5523 0/1:-941.291,0,-960.89:763:384:377:13452:13740 . . . 0/1:-963.083,0,-1051.34:849:432:413:14012:14996:432,413 . . 1/1:-1701.86,-152.955,0:582:9:573:19834:249 0/1:-508.823,0,-541.422:432:217:215:7317:7714 . . . 0/1:-395.052,0,-378.505:310:151:158:5596:5417 0/1:-758.718,0,-778.188:629:313:315:10871:11102 +chr17 39925925 . A G 11303.28 . AB=0;ABP=0;AC=61;AF=1;AN=74;AO=472;CIGAR=1X;DP=16812;DPB=472;DPRA=0;EPP=20.6949;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8475;MQMR=0;NS=1;NUMALT=1;ODDS=658.936;PAIRED=0.989407;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=17527;QR=0;RO=0;RPL=371;RPP=338.392;RPPR=0;RPR=101;RUN=1;SAF=158;SAP=114.97;SAR=314;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1512.13,-142.086,0:472:0:472:17527:0:0,472 0/1:-229.444,0,-201.686:163:77:85:3219:2898 1/1:-1588.65,-150.214,0:499:0:499:18488:0 1/1:-1505.03,-141.484,0:471:0:470:17543:0:0,470 1/1:-1989.42,-186.007,0:622:1:619:23051:15 0/1:-720.546,0,-782.539:573:295:276:10390:11050:295,276 0/1:-462.741,0,-463.455:351:176:175:6602:6572:176,175 0/1:-969.367,0,-868.489:715:339:373:13749:12552 0/1:-563.948,0,-482.965:408:192:216:7967:7021 1/1:-1246.67,-117.703,0:392:0:391:14441:0:0,391 0/1:-587.92,0,-512.337:430:201:227:8321:7452:201,227 1/1:-1629.46,-155.934,0:519:0:518:18887:0 1/1:-2428.3,-229.385,0:763:0:762:28205:0:0,762 1/1:-1417.59,-135.765,0:451:0:451:16449:0 1/1:-992.315,-94.5234,0:314:0:314:11486:0 1/1:-1770.86,-170.082,0:567:0:565:20693:0 0/1:-572.66,0,-421.275:375:166:209:7955:6200:166,209 1/1:-1756.67,-165.567,0:551:0:550:20363:0 1/1:-864.076,-79.8805,0:271:1:270:10024:17 1/1:-1755.9,-167.674,0:558:0:557:20364:0 1/1:-1841.35,-174.296,0:580:0:579:21393:0:0,579 0/1:-366.511,0,-124.638:197:59:138:4909:2117:59,138 1/1:-662.195,-63.8184,0:212:0:212:7682:0 1/1:-1887.6,-177.608,0:590:0:590:21876:0 1/1:-660.107,-62.0122,0:206:0:206:7644:0:0,206 0/1:-980.731,0,-958.878:760:372:387:14005:13733:372,387 0/1:-690.144,0,-552.377:508:228:279:9812:8172 1/1:-1850.33,-177.909,0:591:0:591:21477:0:0,591 1/1:-1045.81,-101.146,0:336:0:336:12116:0 1/1:-2432.87,-237.814,0:790:0:790:28214:0 1/1:-1296.88,-121.917,0:405:0:405:15035:0 0/1:-395.994,0,-407.179:315:158:157:5688:5823 0/1:-606.043,0,-557.165:450:219:230:8617:8011 0/1:-495.492,0,-469.472:372:180:191:7082:6716 1/1:-1071.82,-99.942,0:332:0:332:12398:0 1/1:-733.632,-68.5573,0:231:1:229:8497:37 1/1:-1518.26,-142.086,0:472:0:472:17602:0 +chr17 68172326 . C T 5389.00 . AB=0.461538;ABP=5.51585;AC=10;AF=0.5;AN=20;AO=90;CIGAR=1X;DP=4422;DPB=195;DPRA=0;EPP=45.5712;EPPR=37.7745;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=516.241;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3424;QR=3939;RO=105;RPL=58;RPP=19.3205;RPPR=28.3441;RPR=32;RUN=1;SAF=40;SAP=5.42305;SAR=50;SF=1,2,6,7,10,11,20,27,31,36;SRF=46;SRP=6.50534;SRR=59;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-237.171,0,-282.109:195:105:90:3424:3939 0/1:-496.098,0,-660.55:454:254:199:7333:9221 . . . 0/1:-453.528,0,-503.155:364:190:174:6515:7085:190,174 0/1:-690.075,0,-623.179:506:244:261:9789:8972 . . 0/1:-592.811,0,-461.37:396:177:218:8249:6727:177,218 0/1:-680.431,0,-797.599:579:310:269:9887:11225 . . . . . . . . 0/1:-695.62,0,-684.267:525:262:261:9914:9750:262,261 . . . . . . 0/1:-689.017,0,-726.066:554:279:271:9887:10311:279,271 . . . 0/1:-450.825,0,-431.358:338:167:171:6388:6157 . . . . 0/1:-584.806,0,-764.586:511:283:227:8569:10649 +chr18 9117867 . T C 1375.73 . AB=0.340426;ABP=13.4056;AC=58;AF=0.5;AN=68;AO=16;CIGAR=1X;DP=1928;DPB=47;DPRA=0;EPP=3.55317;EPPR=3.08035;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=69.1676;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=585;QR=1138;RO=31;RPL=4;RPP=11.6962;RPPR=14.8483;RPR=12;RUN=1;SAF=7;SAP=3.55317;SAR=9;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,35,36;SRF=17;SRP=3.64073;SRR=14;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-37.083,0,-84.8841:47:31:16:585:1138:31,16 . 1/1:-184.195,-18.0618,0:60:0:60:2141:0 1/1:-144.648,-13.2453,0:44:0:44:1669:0:0,44 0/1:-46.1476,0,-71.5191:45:26:19:684:978 1/1:-174.132,-16.5567,0:56:0:55:2004:0:0,55 1/1:-76.9403,-7.22472,0:24:0:24:882:0:0,24 1/1:-183.877,-17.7608,0:59:0:59:2112:0 0/1:-59.9583,0,-68.7428:48:25:23:854:961 1/1:-130.672,-12.3422,0:41:0:41:1502:0:0,41 1/1:-165.251,-15.9546,0:53:0:53:1896:0:0,53 0/1:-94.3764,0,-119.635:86:47:39:1379:1681 0/1:-78.4602,0,-133.058:82:49:33:1184:1818:49,33 0/1:-114.636,0,-108.391:90:42:47:1626:1560 1/1:-130.743,-12.6433,0:42:0:42:1501:0 1/1:-146.045,-14.7505,0:49:0:49:1715:0 1/1:-134.092,-12.6433,0:42:0:42:1542:0:0,42 1/1:-237.633,-23.1793,0:77:0:77:2791:0 0/1:-38.2049,0,-40.8215:30:15:15:541:573 1/1:-162.157,-16.5567,0:55:0:55:1858:0 1/1:-178.155,-17.1587,0:57:0:57:2048:0:0,57 0/1:-90.6839,0,-29.1456:47:13:34:1216:497:13,34 1/1:-153.422,-15.0515,0:50:0:50:1758:0 0/1:-77.5528,0,-32.1284:45:14:31:1044:523 1/1:-117.83,-11.1381,0:37:0:37:1353:0:0,37 1/1:-292.474,-28.8989,0:96:0:96:3361:0:0,96 1/1:-225.424,-23.4803,0:78:0:78:2583:0 1/1:-237.26,-23.4803,0:78:0:78:2727:0:0,78 1/1:-159.419,-15.9546,0:53:0:53:1840:0 1/1:-252.974,-24.6845,0:82:0:82:2908:0 0/1:-38.8087,0,-73.8596:45:28:17:597:1003 1/1:-228.555,-22.2762,0:75:0:74:2623:0 1/1:-166.878,-16.5567,0:56:0:55:1924:0 . . 1/1:-106.006,-10.235,0:34:0:34:1215:0 1/1:-193.968,-15.9125,0:65:1:64:2268:38 +chr18 9119489 . A T 2658.33 . AB=0.432432;ABP=10.3464;AC=6;AF=0.5;AN=12;AO=80;CIGAR=1X;DP=1399;DPB=185;DPRA=0;EPP=3.11887;EPPR=5.51266;GTI=0;LEN=1;MEANALT=1;MQM=38.2;MQMR=39.8857;NS=1;NUMALT=1;ODDS=398.26;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2954;QR=3960;RO=105;RPL=35;RPP=5.72464;RPPR=20.4028;RPR=45;RUN=1;SAF=38;SAP=3.44459;SAR=42;SF=4,15,18,25,27,29;SRF=47;SRP=5.51266;SRR=58;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-180.401,0,-272.129:185:105:80:2954:3960 . . . . . . . . . . 0/1:-209.068,0,-227.521:180:91:89:3320:3409 . . 0/1:-172.752,0,-173.161:144:74:70:2651:2749 . . . . . . 0/1:-391.226,0,-383.206:314:155:159:5945:5704:155,159 . 0/1:-372.227,0,-389.74:313:157:156:5639:5827:157,156 . 0/1:-322.014,0,-324.535:263:130:133:4782:4782 . . . . . . . +chr18 28648200 . C T 2396.65 . AB=0.571429;ABP=10.7656;AC=6;AF=0.5;AN=12;AO=100;CIGAR=1X;DP=1156;DPB=175;DPRA=0;EPP=66.3304;EPPR=61.6401;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.7467;NS=1;NUMALT=1;ODDS=404.771;PAIRED=1;PAIREDR=0.986667;PAO=0;PQA=0;PQR=0;PRO=0;QA=3671;QR=2791;RO=75;RPL=47;RPP=3.79203;RPPR=4.429;RPR=53;RUN=1;SAF=44;SAP=6.13722;SAR=56;SF=5,7,11,16,24,27;SRF=41;SRP=4.429;SRR=34;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-264.799,0,-189.357:175:75:100:3671:2791:75,100 . 0/1:-195.756,0,-261.794:178:101:77:2881:3640 . . . 0/1:-344.76,0,-316.497:264:131:133:4906:4570 . . . . 0/1:-209.466,0,-214.009:163:83:80:2991:3037:83,80 . . . . . . . 0/1:-115.527,0,-143.084:98:53:45:1675:1985:53,45 . . 0/1:-381.652,0,-327.162:278:133:145:5389:4715:133,145 . . . . . . . . . +chr18 28648975 . C T 3133.48 . AB=0.505017;ABP=3.07566;AC=7;AF=0.5;AN=14;AO=151;CIGAR=1X;DP=2233;DPB=299;DPRA=0;EPP=7.1663;EPPR=23.2331;GTI=0;LEN=1;MEANALT=2;MQM=36.1854;MQMR=37.4694;NS=1;NUMALT=1;ODDS=747.915;PAIRED=1;PAIREDR=0.993197;PAO=0;PQA=0;PQR=0;PRO=0;QA=5511;QR=5412;RO=147;RPL=69;RPP=5.44062;RPPR=9.52472;RPR=82;RUN=1;SAF=90;SAP=15.1044;SAR=61;SF=14,18,19,21,22,23,32;SRF=87;SRP=13.779;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-333.591,0,-350.004:299:147:151:5511:5412 . . . 0/1:-244.686,0,-284.801:231:116:115:4083:4234 0/1:-448.979,0,-504.113:423:208:215:7855:7536 . 0/1:-79.5935,0,-214.884:148:92:54:1950:3204:92,54 0/1:-259.011,0,-261.896:233:115:116:4221:3982 0/1:-437.296,0,-686.49:482:273:209:7687:9923 . . . . . . . . 0/1:-462.227,0,-499.344:417:205:211:7762:7481 . . . . +chr18 28649042 . T C 3521.88 . AB=0.540541;ABP=7.76406;AC=2;AF=0.5;AN=4;AO=180;CIGAR=1X;DP=571;DPB=333;DPRA=0;EPP=24.2907;EPPR=6.66752;GTI=0;LEN=1;MEANALT=2;MQM=40.3222;MQMR=40.8947;NS=1;NUMALT=1;ODDS=855.504;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6642;QR=5703;RO=152;RPL=112;RPP=26.3657;RPPR=47.8112;RPR=68;RUN=1;SAF=81;SAP=6.91895;SAR=99;SF=10,31;SRF=78;SRP=3.23888;SRR=74;TYPE=snp;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\x3dMIMAT0004601|hsa-miR-145-3p|Experimental,MIMAT0006789|hsa-miR-1468-5p|Experimental,MIMAT0017982|hsa-miR-3605-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.813745;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-458.581,0,-383.923:333:152:180:6642:5703:152,180 . . . . . . . . . . . . . . . . . . . . 0/1:-266.668,0,-332.366:238:129:109:3955:4704 . . . . . +chr18 28666526 . TTG TTAATG 5649.49 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=189;CIGAR=1M3I2M;DP=7482;DPB=396;DPRA=0;EPP=5.59539;EPPR=0;GTI=0;LEN=3;MEANALT=2;MQM=41.8413;MQMR=0;NS=1;NUMALT=1;ODDS=266.615;PAIRED=0.994709;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6809;QR=0;RO=0;RPL=27;RPP=212.402;RPPR=0;RPR=162;RUN=1;SAF=114;SAP=20.4855;SAR=75;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD 1/1:-590.275,-56.8947,0:207:0:189:6809:0:0,189 1/1:.,.,0:89:2:83:2974:78 1/1:.,.,0:240:2:229:8188:63 1/1:-637.176,-60.8081,0:208:0:200:7270:0:0,200 1/1:.,.,0:243:2:228:8418:78 1/1:-713.961,-68.3338,0:240:0:227:8254:0:0,227 1/1:-549.201,-53.8844,0:184:0:179:6332:0:0,179 1/1:.,.,0:279:1:260:9602:39 1/1:.,.,0:155:2:147:5283:78 1/1:-466.232,-45.1545,0:161:0:150:5376:0:0,150 1/1:-619.777,-60.8081,0:210:0:198:7061:0:0,198 1/1:.,.,0:304:3:291:10169:112 1/1:-766.261,-75.8596,0:263:0:252:8849:0:0,252 1/1:.,.,0:275:1:267:9512:35 1/1:.,.,0:143:1:136:4992:39 1/1:.,.,0:227:2:220:7873:78 1/1:-524.293,-50.272,0:176:0:167:6057:0:0,167 1/1:.,.,0:218:4:205:7424:134 1/1:.,.,0:125:3:118:4090:115 1/1:.,.,0:208:2:197:7162:77 1/1:-729.848,-71.0431,0:242:0:236:8435:0:0,236 1/1:-280.883,-29.1999,0:102:0:97:3222:0:0,97 1/1:.,.,0:112:1:103:3499:39 1/1:.,.,0:248:0:235:8459:0 1/1:-304.215,-29.1999,0:99:0:97:3510:0:0,97 1/1:-908.034,-88.8039,0:308:0:295:10480:0:0,295 1/1:.,.,0:274:6:263:8969:203 1/1:-863.716,-84.2884,0:293:0:278:9882:0:0,278 1/1:.,.,0:152:0:150:5208:0 1/1:.,.,0:289:3:277:9639:110 1/1:.,.,0:155:1:146:5132:38 1/1:.,.,0:164:2:156:5485:63 1/1:.,.,0:189:2:170:6099:78 1/1:.,.,0:167:0:163:5901:0 1/1:.,.,0:186:2:173:6288:65 1/1:.,.,0:91:0:87:3163:0 1/1:.,.,0:256:1:242:8738:39 +chr18 28672067 . T C 5486.05 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=222;CIGAR=1X;DP=444;DPB=444;DPRA=0;EPP=33.6848;EPPR=23.7078;GTI=0;LEN=1;MEANALT=1;MQM=41.9189;MQMR=41.8333;NS=1;NUMALT=1;ODDS=1263.21;PAIRED=0.995495;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8033;QR=8337;RO=222;RPL=97;RPP=10.6789;RPPR=31.5329;RPR=125;RUN=1;SAF=138;SAP=31.5329;SAR=84;SF=25;SRF=134;SRP=23.7078;SRR=88;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-562.562,0,-584.653:444:222:222:8033:8337:222,222 . . . . . . . . . . . +chr18 28673565 . T C 1307.20 . AB=0.565217;ABP=4.70971;AC=8;AF=0.5;AN=16;AO=26;CIGAR=1X;DP=901;DPB=46;DPRA=0;EPP=6.01695;EPPR=9.95901;GTI=0;LEN=1;MEANALT=1;MQM=41.9231;MQMR=40.05;NS=1;NUMALT=1;ODDS=98.77;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=962;QR=739;RO=20;RPL=16;RPP=6.01695;RPPR=6.91895;RPR=10;RUN=1;SAF=16;SAP=6.01695;SAR=10;SF=1,2,11,13,26,32,35,36;SRF=9;SRP=3.44459;SRR=11;TYPE=snp;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:GL:DP:RO:AO:QA:QR . 0/1:-69.7144,0,-49.3526:46:20:26:962:739 0/1:-96.0101,0,-185.123:107:67:40:1476:2509 . . . . . . . . 0/1:-214.175,0,-204.058:169:80:87:3063:2932 . 0/1:-164.554,0,-197.297:141:76:65:2385:2760 . . . . . . . . . . . . 0/1:-173.672,0,-181.528:145:73:72:2506:2591 . . . . . 0/1:-181.792,0,-116.553:116:48:68:2530:1745 . . 0/1:-77.3523,0,-58.3719:52:23:29:1069:850 0/1:-131.358,0,-191.704:125:70:55:1947:2651 +chr18 29078304 . G T 1559.12 . AB=0.577982;ABP=8.76769;AC=1;AF=0.5;AN=2;AO=63;CIGAR=1X;DP=109;DPB=109;DPRA=0;EPP=3.32051;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.5217;NS=1;NUMALT=1;ODDS=227.739;PAIRED=1;PAIREDR=0.956522;PAO=0;PQA=0;PQR=0;PRO=0;QA=2309;QR=1645;RO=46;RPL=50;RPP=50.1967;RPPR=18.305;RPR=13;RUN=1;SAF=32;SAP=3.04477;SAR=31;SF=12;SRF=23;SRP=3.0103;SRR=23;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;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=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\x3d99.620044;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-167.58,0,-106.927:109:46:63:2309:1645:46,63 . . . . . . . . . . . . . . . . . . . . . . . . +chr18 29078333 . C G 228.43 . AB=0.571429;ABP=3.94093;AC=1;AF=0.5;AN=2;AO=12;CIGAR=1X;DP=21;DPB=21;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=38.4252;PAIRED=1;PAIREDR=0.888889;PAO=0;PQA=0;PQR=0;PRO=0;QA=422;QR=330;RO=9;RPL=12;RPP=29.068;RPPR=14.8328;RPR=0;RUN=1;SAF=6;SAP=3.0103;SAR=6;SF=15;SRF=5;SRP=3.25157;SRR=4;TYPE=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\x3dOREG1505543|N/A|EGR1|PAZAR,OREG1184072|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.189136;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-30.6024,0,-22.6901:21:9:12:422:330 . . . . . . . . . . . . . . . . . . . . . +chr18 29101215 . CTTTTTTTTTTTTTTTAATAAATAAATAC CTTTTTTTTTTTTTTAAATAAATAAATAC,CTTTTTTTTTTTTTTAATAAATAAATAC 162.20 . AB=0.473684;ABP=3.23888;AC=2,8;AF=0.5;AN=20;AO=18;CIGAR=15M1X13M;DP=577;DPB=38.1379;DPRA=0;EPP=7.35324;EPPR=16.0391;GTI=0;LEN=1;MEANALT=11;MQM=41.8889;MQMR=42;NS=1;NUMALT=1;ODDS=2.10907;PAIRED=0.888889;PAIREDR=1;PAO=0.333333;PQA=12.8333;PQR=12.8333;PRO=0.333333;QA=661;QR=213;RO=6;RPL=15;RPP=20.3821;RPPR=3.0103;RPR=3;RUN=1;SAF=9;SAP=3.0103;SAR=9;SF=0,5,10,19,21,22,25,27,33,34;SRF=3;SRP=3.0103;SRR=3;TYPE=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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSG2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs786204289;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3713;ExAC_nontcga_AFR=0.3203;ExAC_nontcga_AMR=0.4013;ExAC_nontcga_EAS=0.3443;ExAC_nontcga_FIN=0.3699;ExAC_nontcga_NFE=0.3555;ExAC_nontcga_OTH=0.3943;ExAC_nontcga_SAS=0.425;AF=0.0207;AF_popmax=0.0667;AF_male=0.0197;AF_female=0.0220;AF_raw=0.0302;AF_afr=0.0124;AF_sas=.;AF_amr=0.0667;AF_eas=0.0235;AF_nfe=0.0138;AF_fin=0.1167;AF_asj=0.0345;AF_oth=0.0350;non_topmed_AF_popmax=0.0698;non_neuro_AF_popmax=0.0466;non_cancer_AF_popmax=.;controls_AF_popmax=0.3043;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\x3d96.037144;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-46.5873,0,-7.82813,.,.,.:38:6:18,.:661,.:213:6,18 . . . . 0/2:-11.5587,.,.,0,.,-95.6219:56:35:.,11:.,289:1250:35,11 . . . . 0/2:-22.4468,.,.,0,.,-73.4342:50:28:.,12:.,394:999:28,12 . . . . . . . . 0/2:.,.,.,.,.,-38.3548:47:19:.,12:.,267:682 . 0/2:-16.6636,.,.,0,.,-56.8715:44:21:.,10:.,335:719:21,10 0/2:.,.,.,.,.,-94.4676:60:37:.,13:.,397:1287 . . 0/2:-24.6985,.,.,0,.,-118.456:98:45:.,17:.,534:1617:45,17 . 0/1:-64.3101,0,-63.6641,.,.,.:97:26:25,.:958,.:939:26,25 . . . . . 0/2:.,.,.,.,.,-40.8729:41:16:.,11:.,322:559 0/2:.,.,.,.,.,-52.9742:46:22:.,11:.,328:774 . . +chr18 29104564 . C A 2038.71 . AB=0.502994;ABP=3.0233;AC=13;AF=0.5;AN=26;AO=84;CIGAR=1X;DP=2401;DPB=167;DPRA=0;EPP=3.42391;EPPR=3.11623;GTI=0;LEN=1;MEANALT=2;MQM=41.7024;MQMR=42;NS=1;NUMALT=1;ODDS=470.732;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3134;QR=3041;RO=82;RPL=41;RPP=3.1137;RPPR=3.434;RPR=43;RUN=1;SAF=65;SAP=57.7107;SAR=19;SF=5,8,11,13,15,19,20,21,22,23,25,27,30;SRF=57;SRP=30.1272;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-221.252,0,-213.621:167:82:84:3134:3041:82,84 . . 0/1:-186.555,0,-144.427:124:56:68:2589:2093 . . 0/1:-411.904,0,-326.165:284:130:153:5758:4743 . 0/1:-293.868,0,-351.145:252:136:115:4268:4926 . 0/1:-167.889,0,-228.037:154:84:70:2486:3166 . . . 0/1:-148.586,0,-293.252:169:107:62:2299:4002 0/1:-183.817,0,-264.809:169:97:72:2711:3643:97,72 0/1:-52.1689,0,-285.026:132:102:30:1085:3758:102,30 0/1:-132.368,0,-166.672:116:64:52:1927:2324 0/1:-148.125,0,-168.112:121:63:57:2130:2375 . 0/1:-345.084,0,-471.581:316:178:138:5153:6534:178,138 . 0/1:-334.369,0,-312.108:249:122:127:4735:4458:122,127 . . 0/1:-175.33,0,-215.499:148:81:67:2541:2996 . . . . . . +chr18 29104698 . C T 3577.30 . AB=0.518018;ABP=3.63631;AC=25;AF=0.5;AN=38;AO=115;CIGAR=1X;DP=3735;DPB=222;DPRA=0;EPP=3.02918;EPPR=11.96;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=606.573;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4230;QR=3898;RO=107;RPL=52;RPP=5.29507;RPPR=4.65412;RPR=63;RUN=1;SAF=69;SAP=12.9991;SAR=46;SF=0,4,5,8,11,13,15,19,20,21,22,23,25,27,29,30,31,32,35;SRF=66;SRP=15.6941;SRR=41;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-300.329,0,-272.43:222:107:115:4230:3898:107,115 . . . 1/1:-405.797,-38.5318,0:128:0:128:4681:0 0/1:-362.041,0,-291.811:254:116:137:5095:4233:116,137 . . 0/1:-153.377,0,-157.016:120:61:59:2187:2218 . . 1/1:-777.459,-72.3822,0:253:2:250:9015:48 . 0/1:-294.441,0,-288.05:231:115:116:4190:4104 . 1/1:-569.956,-50.0403,0:185:2:183:6652:72 . . . 0/1:-174.587,0,-257.942:170:97:73:2604:3559 0/1:-323.82,0,-291.822:241:118:123:4591:4219:118,123 0/1:-48.2616,0,-291.293:134:105:29:1018:3821:105,29 0/1:-125.011,0,-129.251:100:50:50:1799:1831 0/1:-173.665,0,-216.697:152:83:69:2543:3019 . 0/1:-458.348,0,-527.395:386:204:181:6656:7411:204,181 . 1/1:-1084.04,-102.952,0:342:0:342:12524:0:0,342 . 1/1:-805.257,-77.3378,0:264:1:261:9306:17 1/1:-503.578,-47.5627,0:159:0:158:5823:0 0/1:-176.862,0,-177.796:136:68:67:2510:2515 0/1:-155.788,0,-238.166:154:90:64:2323:3270 . . 0/1:-114.084,0,-152.263:104:58:46:1673:2108 . +chr18 29104714 . A G 2381.79 . AB=0.491039;ABP=3.20488;AC=9;AF=0.5;AN=18;AO=137;CIGAR=1X;DP=1983;DPB=279;DPRA=0;EPP=11.395;EPPR=20.6879;GTI=0;LEN=1;MEANALT=1;MQM=41.7226;MQMR=41.8662;NS=1;NUMALT=1;ODDS=772.681;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4980;QR=5241;RO=142;RPL=44;RPP=41.0665;RPPR=38.2432;RPR=93;RUN=1;SAF=71;SAP=3.40655;SAR=66;SF=3,7,8,10,16,18,24,28,33;SRF=65;SRP=5.21236;SRR=77;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-347.151,0,-369.776:279:142:137:4980:5241:142,137 . . . 0/1:-324.189,0,-429.761:299:167:132:4778:6035 0/1:-247.45,0,-250.98:192:97:95:3513:3560 . 0/1:-339.417,0,-311.358:251:122:129:4784:4453:122,129 . . . . . 0/1:-300.646,0,-415.277:275:155:119:4415:5755:155,119 . 0/1:-149.735,0,-240.098:151:89:62:2243:3287 . . . . . 0/1:-172.569,0,-180.485:135:70:65:2459:2541:70,65 . . . 0/1:-151.617,0,-324.133:190:122:68:2389:4418 . . . . 0/1:-226.44,0,-310.369:211:120:91:3335:4303 . . . +chr18 29122618 . G A 9311.44 . AB=0.491391;ABP=3.49636;AC=1;AF=0.5;AN=2;AO=371;CIGAR=1X;DP=755;DPB=755;DPRA=0;EPP=80.4166;EPPR=72.8659;GTI=0;LEN=1;MEANALT=2;MQM=41.7925;MQMR=41.7598;NS=1;NUMALT=1;ODDS=2144.04;PAIRED=0.973046;PAIREDR=0.968668;PAO=0;PQA=0;PQR=0;PRO=0;QA=13636;QR=14007;RO=383;RPL=158;RPP=20.7157;RPPR=3.15204;RPR=213;RUN=1;SAF=166;SAP=11.9128;SAR=205;SF=25;SRF=171;SRP=12.541;SRR=212;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-949.381,0,-982.739:755:383:371:13636:14007:383,371 . . . . . . . . . . . +chr18 29122799 . G A 1005.33 . AB=0.57732;ABP=8.04722;AC=13;AF=0.5;AN=26;AO=56;CIGAR=1X;DP=1343;DPB=97;DPRA=0;EPP=6.88793;EPPR=11.961;GTI=0;LEN=1;MEANALT=1;MQM=39.9464;MQMR=40.9756;NS=1;NUMALT=1;ODDS=186.561;PAIRED=0.946429;PAIREDR=0.853659;PAO=0;PQA=0;PQR=0;PRO=0;QA=1912;QR=1497;RO=41;RPL=52;RPP=92.3509;RPPR=83.5666;RPR=4;RUN=1;SAF=19;SAP=15.5738;SAR=37;SF=5,8,11,13,14,15,19,20,21,22,23,25,27;SRF=13;SRP=14.9269;SRR=28;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-133.479,0,-99.2365:97:41:56:1912:1497:41,56 . . 0/1:-60.9403,0,-132.498:80:51:29:1027:1841 . . 0/1:-173.729,0,-179.123:150:75:74:2602:2674 . 0/1:-137.209,0,-142.816:124:59:63:2141:2129 0/1:-111.645,0,-73.2677:77:32:45:1674:1125 0/1:-71.4702,0,-138.656:91:54:36:1204:1963 . . . 0/1:-77.7247,0,-82.391:68:33:35:1157:1226 0/1:-130.553,0,-87.1496:94:39:54:1899:1362:39,54 0/1:-41.1454,0,-97.4337:56:38:18:668:1337:38,18 0/1:-62.2059,0,-95.421:69:40:28:1025:1391 0/1:-120.098,0,-126.582:114:56:55:1903:1950 . 0/1:-238.459,0,-190.852:179:81:98:3481:2909:81,98 . 0/1:-144.87,0,-191.189:144:75:69:2329:2760:75,69 . . . . . . . . . +chr18 29125854 . A G 3194.56 . AB=0.494444;ABP=3.05855;AC=12;AF=0.5;AN=20;AO=89;CIGAR=1X;DP=2059;DPB=180;DPRA=0;EPP=20.7969;EPPR=58.6;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9556;NS=1;NUMALT=1;ODDS=468.662;PAIRED=0.988764;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3196;QR=3127;RO=90;RPL=39;RPP=5.96253;RPPR=21.9262;RPR=50;RUN=1;SAF=42;SAP=3.62026;SAR=47;SF=0,4,11,15,27,29,30,31,32,35;SRF=40;SRP=5.42305;SRR=50;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-223.737,0,-217.919:180:90:89:3196:3127:90,89 . . . 1/1:-595.69,-55.7274,0:195:1:194:6904:30 . . . . . . 0/1:-390.655,0,-320.88:302:138:161:5527:4727 . . . 0/1:-167.57,0,-226.836:161:91:69:2481:3167 . . . . . . . . . . . 0/1:-354.461,0,-291.575:275:127:147:5024:4309:127,147 . 1/1:-873.72,-85.7489,0:302:2:299:10159:55 0/1:-161.699,0,-220.042:160:89:71:2409:3083 0/1:-219.146,0,-230.172:192:96:94:3168:3318 0/1:-202.844,0,-259.347:190:102:88:2982:3643 . . 0/1:-139.297,0,-110.808:102:47:55:1951:1622 . +chr18 29126670 . T C 7598.02 . AB=0.496278;ABP=3.05879;AC=26;AF=0.5;AN=40;AO=200;CIGAR=1X;DP=8241;DPB=403;DPRA=0;EPP=32.3686;EPPR=34.3569;GTI=0;LEN=1;MEANALT=2;MQM=41.98;MQMR=42;NS=1;NUMALT=1;ODDS=1122.49;PAIRED=1;PAIREDR=0.990099;PAO=0;PQA=0;PQR=0;PRO=0;QA=7252;QR=7363;RO=202;RPL=133;RPP=50.305;RPPR=71.8094;RPR=67;RUN=1;SAF=61;SAP=69.0665;SAR=139;SF=0,4,5,8,11,13,14,15,19,20,21,22,23,25,27,29,30,31,32,35;SRF=59;SRP=78.8613;SRR=143;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-509.139,0,-516.672:403:202:200:7252:7363:202,200 . . . 1/1:-1368.64,-130.045,0:432:0:432:15782:0 0/1:-713.258,0,-572.603:503:227:275:10015:8360:227,275 . . 0/1:-403.963,0,-387.075:299:145:154:5693:5521 . . 1/1:-1736.91,-161.865,0:561:2:558:20099:78 . 0/1:-623.238,0,-688.615:514:267:247:8949:9768 0/1:-404.191,0,-435.64:325:164:160:5776:6171 1/1:-1369.96,-128.97,0:440:1:438:15882:35 . . . 0/1:-489.93,0,-545.535:398:205:193:7021:7709 0/1:-738.499,0,-738.748:568:280:288:10491:10522:280,288 0/1:-138.239,0,-385.424:205:142:63:2297:5150:142,63 0/1:-352.665,0,-220.526:227:92:135:4837:3330 0/1:-573.892,0,-605.641:453:231:222:8192:8584 . 0/1:-897.38,0,-751.9:644:296:348:12576:10954:296,348 . 1/1:-1629.47,-158.342,0:527:0:526:18768:0:0,526 . 1/1:-1759.97,-170.082,0:566:0:565:20259:0 1/1:-984.994,-90.2045,0:311:2:309:11380:36 0/1:-375.226,0,-440.498:317:167:150:5415:6196 0/1:-420.541,0,-458.868:339:173:166:6015:6504 . . 0/1:-295.991,0,-243.567:209:96:113:4127:3535 . +chr18 29172865 . G A 1993.86 . AB=0.441989;ABP=8.30101;AC=1;AF=0.5;AN=2;AO=80;CIGAR=1X;DP=181;DPB=181;DPRA=0;EPP=3.98746;EPPR=3.0318;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=459.104;PAIRED=1;PAIREDR=0.990099;PAO=0;PQA=0;PQR=0;PRO=0;QA=3024;QR=3798;RO=101;RPL=35;RPP=5.72464;RPPR=26.4235;RPR=45;RUN=1;SAF=44;SAP=4.74748;SAR=36;SF=30;SRF=52;SRP=3.2038;SRR=49;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-206.831,0,-274.821:181:101:80:3024:3798 . . . . . . +chr18 29178513 . GTCTG CTCTG 349.91 . AB=0.410714;ABP=6.88793;AC=3;AF=0.5;AN=6;AO=23;CIGAR=1X4M;DP=158;DPB=56.6;DPRA=0;EPP=7.63648;EPPR=5.8675;GTI=0;LEN=1;MEANALT=10;MQM=33.913;MQMR=39.6842;NS=1;NUMALT=1;ODDS=61.6631;PAIRED=0.869565;PAIREDR=0.789474;PAO=0;PQA=0;PQR=0;PRO=0;QA=558;QR=676;RO=19;RPL=4;RPP=24.253;RPPR=12.2676;RPR=19;RUN=1;SAF=12;SAP=3.10471;SAR=11;SF=3,18,34;SRF=17;SRP=28.7251;SRR=2;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-34.7755,0,-43.7794:56:19:23:558:676:19,23 . . . . . . . . . . . . . . 0/1:.,.,-43.1933:45:24:19:544:688 . . . . . . . . . . . . . . . 0/1:.,.,-29.2844:57:19:35:1003:553 . . +chr18 29178610 . C T 1604.91 . AB=0.452703;ABP=5.88603;AC=1;AF=0.5;AN=2;AO=67;CIGAR=1X;DP=148;DPB=148;DPRA=0;EPP=3.82055;EPPR=10.7579;GTI=0;LEN=1;MEANALT=1;MQM=41.3731;MQMR=40.358;NS=1;NUMALT=1;ODDS=369.543;PAIRED=1;PAIREDR=0.938272;PAO=0;PQA=0;PQR=0;PRO=0;QA=2502;QR=3005;RO=81;RPL=17;RPP=38.3048;RPPR=35.8505;RPR=50;RUN=1;SAF=39;SAP=6.93191;SAR=28;SF=24;SRF=46;SRP=6.2541;SRR=35;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTR;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTR:NM_000371:exon4:c.C416T:p.T139M;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28933981;CLNALLELEID=28473;CLNDN=AMYLOIDOSIS,_HEREDITARY,_TRANSTHYRETIN-RELATED,_MODIFIER_OF|Amyloidogenic_transthyretin_amyloidosis|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=.|MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign,_risk_factor;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=0.995;Polyphen2_HVAR_rankscore=0.818;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=A;MutationAssessor_score=3.29;MutationAssessor_score_rankscore=0.905;MutationAssessor_pred=M;FATHMM_score=-3.93;FATHMM_converted_rankscore=0.961;FATHMM_pred=D;PROVEAN_score=-2.0;PROVEAN_converted_rankscore=0.461;PROVEAN_pred=N;VEST3_score=0.905;VEST3_rankscore=0.895;MetaSVM_score=0.895;MetaSVM_rankscore=0.956;MetaSVM_pred=D;MetaLR_score=0.918;MetaLR_rankscore=0.973;MetaLR_pred=D;M-CAP_score=0.681;M-CAP_rankscore=0.974;M-CAP_pred=D;REVEL_score=0.682;REVEL_rankscore=0.885;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.978;CADD_raw_rankscore=0.936;CADD_phred=33;DANN_score=0.999;DANN_rankscore=0.984;fathmm-MKL_coding_score=0.972;fathmm-MKL_coding_rankscore=0.728;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.861;Eigen-PC-raw=0.802;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=6.08;GERP++_RS_rankscore=0.990;phyloP100way_vertebrate=6.091;phyloP100way_vertebrate_rankscore=0.708;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.713;phastCons20way_mammalian_rankscore=0.312;SiPhy_29way_logOdds=20.267;SiPhy_29way_logOdds_rankscore=0.985;Interpro_domain=Transthyretin/hydroxyisourate_hydrolase,_superfamily;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0028;ExAC_nontcga_ALL=0.0015;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0027;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;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=0.0012;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=0.0041;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=Name\x3d99.672060;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-170.141,0,-207.77:148:81:67:2502:3005:81,67 . . . . . . . . . . . . +chr18 32335915 . A G 1819.88 . AB=0.522989;ABP=3.809;AC=4;AF=0.5;AN=8;AO=91;CIGAR=1X;DP=642;DPB=174;DPRA=0;EPP=4.17955;EPPR=6.82362;GTI=0;LEN=1;MEANALT=2;MQM=41.4945;MQMR=41.9756;NS=1;NUMALT=1;ODDS=470.012;PAIRED=0.978022;PAIREDR=0.987805;PAO=0;PQA=0;PQR=0;PRO=0;QA=3253;QR=3117;RO=82;RPL=17;RPP=80.539;RPPR=59.0449;RPR=74;RUN=1;SAF=53;SAP=8.37933;SAR=38;SF=2,9,10,19;SRF=49;SRP=9.78953;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-228.41,0,-217.524:174:82:91:3253:3117 . . . . . . 0/1:-165.779,0,-211.325:145:78:67:2408:2946:78,67 0/1:-209.037,0,-205.921:159:78:80:2964:2925:78,80 . . . . . . . . 0/1:-192.626,0,-228.039:164:87:77:2792:3206 . . . . . . . . . . . . . . . . . +chr18 32400909 . ACA AA 2075.22 . AB=0.426036;ABP=11.0409;AC=5;AF=0.5;AN=8;AO=72;CIGAR=1M1D1M;DP=567;DPB=152.667;DPRA=0;EPP=30.1537;EPPR=22.6469;GTI=0;LEN=1;MEANALT=3;MQM=41.9444;MQMR=41.5914;NS=1;NUMALT=1;ODDS=359.465;PAIRED=1;PAIREDR=1;PAO=8;PQA=287.5;PQR=281.5;PRO=8;QA=2553;QR=3442;RO=93;RPL=54;RPP=42.0968;RPPR=54.5886;RPR=18;RUN=1;SAF=33;SAP=4.09604;SAR=39;SF=13,17,20,23;SRF=38;SRP=9.75821;SRR=55;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-169.878,0,-244.951:169:93:72:2553:3442 . . . 0/1:-158.67,0,-243.292:156:88:68:2433:3334 . . 1/1:-417.13,-40.338,0:133:0:132:4837:0:0,132 . . 0/1:-144.281,0,-141.487:109:53:55:2048:2017 . . . . . . . . . . . . . +chr18 32418186 . T A 2604.39 . AB=0.43609;ABP=7.72876;AC=16;AF=0.5;AN=26;AO=58;CIGAR=1X;DP=2181;DPB=133;DPRA=0;EPP=46.29;EPPR=59.8207;GTI=0;LEN=1;MEANALT=2;MQM=41.6897;MQMR=42;NS=1;NUMALT=1;ODDS=313.914;PAIRED=1;PAIREDR=0.986486;PAO=0;PQA=0;PQR=0;PRO=0;QA=2190;QR=2814;RO=74;RPL=40;RPP=21.1309;RPPR=10.5224;RPR=18;RUN=1;SAF=28;SAP=3.16006;SAR=30;SF=4,6,7,13,16,17,20,23,25,29,30,34,36;SRF=32;SRP=5.94472;SRR=42;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-149.221,0,-203.268:133:74:58:2190:2814 . 0/1:-176.279,0,-120.331:112:47:65:2423:1781:47,65 0/1:-227.273,0,-402.527:238:144:94:3451:5501 . . . . . 1/1:-580.95,-55.9916,0:186:0:186:6742:0 . . 0/1:-194.114,0,-233.302:160:85:75:2826:3265:85,75 0/1:-141.244,0,-231.808:143:83:59:2133:3181 . . 1/1:-670.503,-62.3132,0:207:0:207:7768:0:0,207 . . 0/1:-167.872,0,-194.423:139:72:66:2418:2736 . 0/1:-300.484,0,-263.817:216:102:114:4229:3801:102,114 . . . 0/1:-221.557,0,-374.231:230:136:93:3344:5142 0/1:-163.525,0,-165.365:126:63:63:2325:2350 . . . 1/1:-388.979,-38.2308,0:127:0:127:4517:0 . 0/1:-205.188,0,-217.372:164:83:80:2936:3084 +chr18 32428317 . G A 2672.74 . AB=0.507109;ABP=3.10292;AC=1;AF=0.5;AN=2;AO=107;CIGAR=1X;DP=211;DPB=211;DPRA=0;EPP=27.8706;EPPR=19.3799;GTI=0;LEN=1;MEANALT=1;MQM=41.8131;MQMR=41.5;NS=1;NUMALT=1;ODDS=584.344;PAIRED=0.981308;PAIREDR=0.990385;PAO=0;PQA=0;PQR=0;PRO=0;QA=3926;QR=3777;RO=104;RPL=52;RPP=3.19295;RPPR=9.77527;RPR=55;RUN=1;SAF=63;SAP=10.3365;SAR=44;SF=20;SRF=65;SRP=17.1249;SRR=39;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DTNA:NM_001198943:exon4:c.G393A:p.A131A,DTNA:NM_032981:exon4:c.G189A:p.A63A,DTNA:NM_001198944:exon5:c.G279A:p.A93A,DTNA:NM_032980:exon5:c.G267A:p.A89A,DTNA:NM_001198942:exon7:c.G450A:p.A150A,DTNA:NM_001198941:exon11:c.G1143A:p.A381A,DTNA:NM_001198938:exon12:c.G1143A:p.A381A,DTNA:NM_001198939:exon12:c.G1143A:p.A381A,DTNA:NM_001198940:exon12:c.G1143A:p.A381A,DTNA:NM_001390:exon13:c.G1323A:p.A441A,DTNA:NM_001391:exon13:c.G1323A:p.A441A,DTNA:NM_032975:exon13:c.G1152A:p.A384A,DTNA:NM_032978:exon13:c.G1314A:p.A438A,DTNA:NM_032979:exon13:c.G1152A:p.A384A;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144776465;CLNALLELEID=243060;CLNDN=Left_ventricular_noncompaction_1|not_specified;CLNDISDB=MedGen:C1858725,OMIM:604169|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=0.0005;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=0.0004;AF=0.0002;AF_popmax=0.0003;AF_male=0.0002;AF_female=0.0002;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=0.0003;non_neuro_AF_popmax=0.0004;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\x3d99.621221;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-277.141,0,-264.097:211:104:107:3926:3777:104,107 . . . . . . . . . . . . . . . . +chr18 32444040 . G A 2632.76 . AB=0.437086;ABP=8.2017;AC=19;AF=0.5;AN=36;AO=66;CIGAR=1X;DP=3799;DPB=151;DPRA=0;EPP=32.6213;EPPR=80.2892;GTI=0;LEN=1;MEANALT=1;MQM=41.697;MQMR=41.5529;NS=1;NUMALT=1;ODDS=368.956;PAIRED=0.954545;PAIREDR=0.964706;PAO=0;PQA=0;PQR=0;PRO=0;QA=2512;QR=3212;RO=85;RPL=27;RPP=7.74806;RPPR=4.26209;RPR=39;RUN=1;SAF=33;SAP=3.0103;SAR=33;SF=2,4,6,7,11,13,15,16,17,19,20,21,23,25,29,30,34,36;SRF=42;SRP=3.03585;SRR=43;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-170.461,0,-229.279:151:85:66:2512:3212 . 0/1:-205.125,0,-298.969:191:109:82:3126:4149 . 0/1:-186.987,0,-221.868:154:82:72:2737:3104:82,72 0/1:-289.896,0,-283.255:220:110:110:4191:4100 . . . 0/1:-377.841,0,-421.653:308:160:147:5463:5981 . 0/1:-364.21,0,-403.276:294:154:140:5275:5735 . 0/1:-281.755,0,-261.893:212:100:109:4091:3789 0/1:-208.807,0,-198.344:154:76:78:3005:2878:76,78 0/1:-232.376,0,-263.112:185:97:88:3390:3739 . 0/1:-203.052,0,-221.825:160:83:77:2912:3171 0/1:-286.52,0,-320.935:232:121:111:4218:4592:121,111 0/1:-67.4295,0,-304.862:144:109:35:1289:4024:109,35 . 0/1:-286.894,0,-246.915:202:96:106:4050:3657 . 0/1:-558.409,0,-485.237:402:190:211:7942:7114:190,211 . . . 0/1:-330.33,0,-433.809:298:166:132:4929:6076 0/1:-197.563,0,-219.255:158:82:76:2870:3106 . . . 1/1:-498.592,-46.6597,0:155:0:155:5836:0 . 0/1:-250.084,0,-223.298:179:85:94:3538:3211 +chr18 32455379 . T C 2891.35 . AB=0.528736;ABP=4.88226;AC=3;AF=0.5;AN=6;AO=138;CIGAR=1X;DP=721;DPB=261;DPRA=0;EPP=21.2003;EPPR=35.653;GTI=0;LEN=1;MEANALT=1;MQM=41.587;MQMR=41.9837;NS=1;NUMALT=1;ODDS=689.417;PAIRED=0.985507;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5167;QR=4608;RO=123;RPL=117;RPP=148.027;RPPR=97.0898;RPR=21;RUN=1;SAF=65;SAP=4.01736;SAR=73;SF=17,20,23;SRF=58;SRP=3.87536;SRR=65;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . 0/1:-365.725,0,-319.69:261:123:138:5167:4608 . . 0/1:-373.793,0,-287.234:252:113:139:5217:4273:113,139 . . 0/1:-192.142,0,-368.69:208:131:77:2952:5000 . . . . . . . . . . . . . +chr18 32459615 . G A 2530.56 . AB=0.395522;ABP=28.4198;AC=1;AF=0.5;AN=2;AO=106;CIGAR=1X;DP=268;DPB=268;DPRA=0;EPP=3.0103;EPPR=4.9405;GTI=0;LEN=1;MEANALT=1;MQM=41.9623;MQMR=41.7716;NS=1;NUMALT=1;ODDS=582.683;PAIRED=0.971698;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3970;QR=5856;RO=162;RPL=61;RPP=8.25461;RPPR=3.0103;RPR=45;RUN=1;SAF=50;SAP=3.74778;SAR=56;SF=29;SRF=78;SRP=3.49285;SRR=84;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DTNA;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DTNA:NM_001198943:exon10:c.G1083A:p.A361A,DTNA:NM_001198944:exon11:c.G969A:p.A323A,DTNA:NM_032980:exon11:c.G957A:p.A319A,DTNA:NM_001198942:exon13:c.G1140A:p.A380A,DTNA:NM_001198938:exon18:c.G1833A:p.A611A,DTNA:NM_001198940:exon18:c.G1833A:p.A611A,DTNA:NM_001198939:exon19:c.G1854A:p.A618A,DTNA:NM_001390:exon19:c.G2013A:p.A671A,DTNA:NM_032975:exon19:c.G1842A:p.A614A;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369914309;CLNALLELEID=507361;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=9.43e-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=3.186e-05;AF_popmax=.;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=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\x3d99.622052;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-262.848,0,-427.245:268:162:106:3970:5856 . . . . . . . +chr18 32470291 . G A 2457.45 . AB=0;ABP=0;AC=24;AF=1;AN=42;AO=143;CIGAR=1X;DP=3524;DPB=143;DPRA=0;EPP=9.70694;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.986;MQMR=0;NS=1;NUMALT=1;ODDS=202.845;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5266;QR=0;RO=0;RPL=32;RPP=97.7806;RPPR=0;RPR=111;RUN=1;SAF=98;SAP=45.6653;SAR=45;SF=0,1,3,6,8,9,10,12,15,16,18,20,21,23,25,26,27,29,32,34,35;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-456.142,-43.0473,0:143:0:143:5266:0:0,143 0/1:-61.0044,0,-70.1348:52:28:23:883:985 . 0/1:-143.668,0,-257.026:155:95:60:2193:3538:95,60 . . 0/1:-168.91,0,-142.584:121:57:64:2365:2053:57,64 . 0/1:-193.843,0,-160.381:139:64:75:2717:2326 0/1:-168.88,0,-226.911:152:85:67:2477:3136:85,67 0/1:-193.799,0,-173.361:142:68:74:2731:2498:68,74 . 0/1:-312.461,0,-243.01:215:97:118:4377:3541:97,118 . . 0/1:-302.369,0,-259.715:223:103:120:4310:3774 0/1:-207.699,0,-186.402:153:73:80:2937:2689:73,80 . 0/1:-142.732,0,-138.71:109:55:54:2029:1964 . 0/1:-235.954,0,-248.603:191:97:94:3381:3533:97,94 0/1:-54.4349,0,-177.398:93:66:27:945:2351:66,27 . 0/1:-248.591,0,-211.49:179:84:94:3496:3056 . 0/1:-367.244,0,-325.109:270:129:140:5188:4671:129,140 1/1:-811.224,-80.594,0:273:1:271:9473:15 0/1:-259.011,0,-342.436:243:133:107:3880:4784:133,107 . 0/1:-412.838,0,-383.09:320:155:165:5915:5520 . . 1/1:-426.89,-32.3744,0:140:3:137:5062:108 . 0/1:-156.638,0,-210.171:139:78:61:2289:2899 0/1:-104.427,0,-77.7914:72:32:40:1453:1139 . +chr19 16590094 . A G 2696.33 . AB=0.534314;ABP=5.09662;AC=1;AF=0.5;AN=2;AO=109;CIGAR=1X;DP=204;DPB=204;DPRA=0;EPP=3.50834;EPPR=3.58174;GTI=0;LEN=1;MEANALT=1;MQM=41.8073;MQMR=41.7368;NS=1;NUMALT=1;ODDS=507.322;PAIRED=0.981651;PAIREDR=0.989474;PAO=0;PQA=0;PQR=0;PRO=0;QA=4017;QR=3468;RO=95;RPL=71;RPP=24.7051;RPPR=19.6735;RPR=38;RUN=1;SAF=25;SAP=72.358;SAR=84;SF=13;SRF=17;SRP=88.0634;SRR=78;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALR3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs144370982;CLNALLELEID=243312;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=0;dbscSNV_RF_SCORE=0.016;esp6500siv2_ea=0.0003;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0.0073;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=0.0025;AF_popmax=0.0080;AF_male=0.0029;AF_female=0.0019;AF_raw=0.0025;AF_afr=0.0080;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0.0069;AF_oth=0.0009;non_topmed_AF_popmax=0.0081;non_neuro_AF_popmax=0.0095;non_cancer_AF_popmax=.;controls_AF_popmax=0.0090;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\x3d98.547438;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 0/1:-285.926,0,-237.881:204:95:109:4017:3468 . . . . . . . . . . . . . . . . . . . . . . . +chr19 16591464 . G A 4112.24 . AB=0.51087;ABP=3.19912;AC=55;AF=0.5;AN=70;AO=94;CIGAR=1X;DP=6325;DPB=184;DPRA=0;EPP=3.0103;EPPR=6.48466;GTI=0;LEN=1;MEANALT=1;MQM=41.7553;MQMR=41.8444;NS=1;NUMALT=1;ODDS=491.677;PAIRED=1;PAIREDR=0.955556;PAO=0;PQA=0;PQR=0;PRO=0;QA=3384;QR=3179;RO=90;RPL=58;RPP=14.1911;RPPR=3.39634;RPR=36;RUN=1;SAF=61;SAP=21.1213;SAR=33;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,28,29,30,31,32,33,34,35,36;SRF=54;SRP=10.8276;SRR=36;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-237.073,0,-221.172:184:90:94:3384:3179:90,94 1/1:-250.721,-23.7814,0:80:0:79:2893:0 0/1:-161.594,0,-217.003:157:86:70:2408:3029 1/1:-600.419,-57.4967,0:192:0:191:6946:0:0,191 0/1:-251.804,0,-282.296:211:111:100:3686:4013 1/1:-569.285,-55.0885,0:183:0:183:6731:0:0,183 0/1:-174.786,0,-162.936:136:66:70:2517:2361:66,70 0/1:-257.052,0,-262.614:208:106:102:3758:3756 1/1:-338.75,-32.5112,0:108:0:108:3940:0 0/1:-217.457,0,-222.614:181:90:90:3147:3219:90,90 . 1/1:-825.951,-80.676,0:268:0:268:9618:0 0/1:-323.004,0,-303.704:251:125:126:4619:4355:125,126 0/1:-389.022,0,-277.345:274:121:151:5463:4179 1/1:-478.612,-43.2122,0:156:1:154:5618:39 0/1:-202.119,0,-224.099:177:91:84:3005:3188 1/1:-484.602,-45.1545,0:150:0:150:5658:0:0,150 1/1:-813.786,-76.1606,0:254:0:253:9446:0 0/1:-134.372,0,-184.122:130:75:54:2016:2594 0/1:-221.901,0,-207.584:175:85:90:3195:3026 1/1:-574.936,-53.6909,0:184:1:183:6695:17:1,183 0/1:-225.918,0,-40.401:107:23:84:3002:828:23,84 1/1:-384.192,-35.465,0:128:1:127:4494:31 1/1:-605.462,-57.7978,0:192:0:192:6996:0 0/1:-122.925,0,-111.758:97:46:51:1777:1613:46,51 1/1:-999.573,-96.6306,0:323:0:321:11655:0:0,321 1/1:-701.352,-67.3983,0:229:1:228:8174:16 . 1/1:-523.567,-51.4761,0:172:0:171:6027:0 0/1:-336.041,0,-367.59:287:149:136:4955:5223 1/1:-625.393,-60.206,0:201:0:200:7210:0 1/1:-489.907,-47.5627,0:158:0:158:5687:0 1/1:-466.507,-44.2514,0:148:0:147:5409:0 0/1:-182.346,0,-177.766:145:72:73:2625:2550 1/1:-531.245,-51.7772,0:172:0:172:6184:0 1/1:-385.269,-36.4246,0:121:0:121:4451:0 1/1:-570.101,-55.9916,0:186:0:186:6663:0 +chr19 16593415 . G A 7720.62 . AB=0.456395;ABP=8.69148;AC=55;AF=0.5;AN=70;AO=157;CIGAR=1X;DP=11781;DPB=344;DPRA=0;EPP=19.9533;EPPR=28.9389;GTI=0;LEN=1;MEANALT=3;MQM=41.9873;MQMR=41.7838;NS=1;NUMALT=1;ODDS=896.061;PAIRED=1;PAIREDR=0.989189;PAO=0;PQA=0;PQR=0;PRO=0;QA=5863;QR=6506;RO=185;RPL=110;RPP=57.9057;RPPR=69.0348;RPR=47;RUN=1;SAF=73;SAP=4.68386;SAR=84;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,28,29,30,31,32,33,34,35,36;SRF=85;SRP=5.65128;SRR=100;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-404.08,0,-462.248:344:185:157:5863:6506:185,157 1/1:-512.82,-48.4658,0:161:0:161:5945:0 0/1:-361.537,0,-453.315:323:176:147:5322:6339 1/1:-806.172,-69.979,0:256:2:253:9457:77:2,253 0/1:-630.608,0,-560.757:467:222:244:8922:8086 1/1:-1484.08,-137.978,0:463:1:462:17185:14:1,462 0/1:-413.303,0,-265.462:272:113:159:5717:4005:113,159 0/1:-470.879,0,-555.45:404:218:186:6904:7807 1/1:-743.581,-70.7421,0:235:0:235:8602:0 0/1:-372.064,0,-348.309:281:139:141:5307:4980:139,141 . 1/1:-1325.03,-124.42,0:423:2:420:15354:29 0/1:-646.218,0,-704.761:530:274:253:9302:10017:274,253 0/1:-488.233,0,-508.293:399:204:194:7032:7217 1/1:-887.835,-83.3853,0:277:0:277:10275:0 0/1:-474.198,0,-425.437:363:171:192:6762:6190 1/1:-1135.08,-104.443,0:357:2:353:13179:27:2,353 1/1:-1334.61,-125.985,0:423:1:422:15481:14 0/1:-314.253,0,-297.486:238:118:120:4466:4295 0/1:-463.677,0,-418.171:345:167:177:6586:6010 1/1:-1311.42,-123.121,0:409:0:409:15190:0:0,409 0/1:-346.714,0,-98.5009:177:48:129:4608:1740:48,129 1/1:-524.758,-51.1751,0:171:0:170:6092:0 1/1:-1383.19,-131.249,0:437:0:436:16013:0 0/1:-315.678,0,-217.463:205:87:116:4386:3212:87,116 1/1:-1625.44,-154.543,0:520:1:517:18842:16:1,517 1/1:-1266.65,-124.024,0:415:0:412:14704:0 . 1/1:-830.959,-81.8802,0:273:0:272:9587:0 0/1:-698.054,0,-534.665:509:232:276:9826:7972 1/1:-944.347,-88.8039,0:295:0:295:10938:0 1/1:-803.488,-76.7627,0:257:0:255:9282:0 1/1:-1038.9,-97.8348,0:326:0:325:12016:0 0/1:-379.813,0,-343.05:284:136:146:5388:4947 1/1:-1059.85,-99.6409,0:331:0:331:12262:0 1/1:-774.684,-72.5482,0:241:0:241:8954:0 1/1:-1144.87,-107.613,0:370:1:368:13314:39 +chr19 16593573 . G A 6999.69 . AB=0.489614;ABP=3.32603;AC=12;AF=0.5;AN=20;AO=165;CIGAR=1X;DP=4298;DPB=337;DPRA=0;EPP=3.02346;EPPR=6.24226;GTI=0;LEN=1;MEANALT=1;MQM=41.5273;MQMR=41.6686;NS=1;NUMALT=1;ODDS=955.077;PAIRED=0.987879;PAIREDR=0.994186;PAO=0;PQA=0;PQR=0;PRO=0;QA=6135;QR=6199;RO=172;RPL=64;RPP=21.0269;RPPR=48.4597;RPR=101;RUN=1;SAF=103;SAP=25.133;SAR=62;SF=0,2,4,9,10,12,13,18,27,29;SRF=110;SRP=32.0979;SRR=62;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-425.83,0,-435.7:337:172:165:6135:6199:172,165 . 0/1:-319.301,0,-487.336:322:190:132:4827:6789 . 0/1:-595.144,0,-654.071:483:253:229:8603:9215 . . . . 0/1:-415.571,0,-368.314:306:146:160:5902:5322:146,160 1/1:-1102.56,-103.253,0:343:0:343:12783:0:0,343 . 0/1:-732.801,0,-673.477:544:262:280:10408:9654:262,280 0/1:-646.56,0,-681.903:519:270:248:9319:9668 . . . . 0/1:-340.396,0,-274.276:237:109:128:4762:3975 . . . . . . . . 1/1:-1724.87,-162.422,0:546:1:543:20027:15:1,543 . 0/1:-830.048,0,-847.072:661:337:323:11935:12078 . . . . . . . +chr19 16601168 . G A 4509.61 . AB=0.44918;ABP=9.85222;AC=11;AF=0.5;AN=20;AO=137;CIGAR=1X;DP=3556;DPB=305;DPRA=0;EPP=44.2366;EPPR=13.9457;GTI=0;LEN=1;MEANALT=2;MQM=41.7518;MQMR=41.7784;NS=1;NUMALT=1;ODDS=772.683;PAIRED=1;PAIREDR=0.994012;PAO=0;PQA=0;PQR=0;PRO=0;QA=5149;QR=6137;RO=167;RPL=47;RPP=32.3173;RPPR=48.2731;RPR=90;RUN=1;SAF=84;SAP=18.2423;SAR=53;SF=0,2,4,9,10,12,13,21,27,29;SRF=111;SRP=42.3439;SRR=56;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-351.73,0,-440.56:305:167:137:5149:6137:167,137 . 0/1:-323.928,0,-383.006:278:149:129:4736:5371 . 0/1:-498.968,0,-671.86:449:254:194:7344:9316 . . . . 0/1:-330.875,0,-408.731:286:156:130:4838:5718:156,130 0/1:-388.223,0,-382.413:295:147:148:5515:5428:147,148 . 0/1:-455.408,0,-683.963:439:259:180:6813:9433:259,180 0/1:-456.935,0,-707.1:452:265:187:6851:9723 . . . . . . . 0/1:-67.2486,0,-369.709:173:137:36:1379:4844:137,36 . . . . . 1/1:-1223.18,-114.09,0:379:0:379:14152:0:0,379 . 0/1:-605.518,0,-641.467:500:259:241:8770:9193 . . . . . . . +chr19 16601194 . C T 9745.48 . AB=0.553806;ABP=12.591;AC=55;AF=0.5;AN=70;AO=211;CIGAR=1X;DP=14314;DPB=381;DPRA=0;EPP=3.8439;EPPR=16.0902;GTI=0;LEN=1;MEANALT=1;MQM=41.8246;MQMR=41.8;NS=1;NUMALT=1;ODDS=969.177;PAIRED=0.995261;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7683;QR=6338;RO=170;RPL=81;RPP=27.7198;RPPR=13.0246;RPR=130;RUN=1;SAF=134;SAP=36.4469;SAR=77;SF=0,1,2,3,4,5,6,7,8,9,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,28,29,30,31,32,33,34,35,36;SRF=108;SRP=30.0387;SRR=62;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-551.006,0,-433.925:381:170:211:7683:6338:170,211 1/1:-582.953,-55.3895,0:184:0:184:6722:0 0/1:-516.497,0,-409.067:361:163:197:7199:5994 1/1:-1268.85,-119.509,0:398:0:397:14675:0:0,397 0/1:-691.43,0,-695.362:531:262:268:9829:9888 1/1:-1781.93,-169.48,0:565:0:563:20596:0:0,563 0/1:-506.364,0,-396.305:349:155:194:7053:5776:155,194 0/1:-690.93,0,-610.857:504:236:267:9728:8811 1/1:-1027.11,-97.2327,0:325:0:323:11879:0 0/1:-401.998,0,-411.167:316:158:158:5737:5849:158,158 . 1/1:-1685.42,-164.171,0:552:1:551:19465:20 0/1:-818.833,0,-584.019:544:232:311:11347:8645:232,311 0/1:-738.608,0,-588.355:518:231:284:10329:8595 1/1:-1101.64,-105.361,0:352:0:350:12721:0 0/1:-560.315,0,-464.846:402:184:218:7889:6767 1/1:-1484.8,-140.28,0:467:0:466:17211:0:0,466 1/1:-1854.14,-175.5,0:583:0:583:21419:0 0/1:-311.287,0,-313.521:241:121:120:4420:4450 0/1:-585.34,0,-521.582:427:203:224:8250:7514 1/1:-1547.77,-144.545,0:489:2:487:17981:28:2,487 0/1:-430.813,0,-71.988:202:41:161:5647:1526:41,161 1/1:-688.229,-67.4307,0:225:0:224:7907:0 1/1:-1693.31,-159.245,0:530:0:529:19639:0 0/1:-186.729,0,-339.496:200:123:77:2844:4618:123,77 1/1:-2067.48,-194.944,0:664:2:661:23959:52:2,661 1/1:-1827.07,-175.884,0:603:2:601:21121:74 . 1/1:-983.33,-96.0286,0:320:0:319:11357:0 0/1:-825.878,0,-746.388:626:300:326:11722:10818 1/1:-1026.45,-97.5337,0:324:0:324:11820:0 1/1:-1038.21,-95.0886,0:339:2:336:12071:75 1/1:-1342.59,-129.744,0:431:0:431:15665:0 0/1:-416.726,0,-402.29:316:154:162:5909:5740 1/1:-1095.32,-103.253,0:343:0:343:12633:0 1/1:-905.568,-85.7936,0:285:0:285:10452:0 1/1:-1312.37,-123.096,0:417:1:413:15185:17 +chr19 35524824 . T C 7742.56 . AB=0;ABP=0;AC=39;AF=1;AN=60;AO=414;CIGAR=1X;DP=12720;DPB=414;DPRA=0;EPP=15.095;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.6594;MQMR=0;NS=1;NUMALT=1;ODDS=578.531;PAIRED=0.992754;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=15253;QR=0;RO=0;RPL=218;RPP=5.54893;RPPR=0;RPR=196;RUN=1;SAF=189;SAP=9.80795;SAR=225;SF=0,1,2,3,6,7,8,9,10,11,12,14,15,16,18,19,20,21,22,23,25,26,27,28,29,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-1317.29,-124.626,0:414:0:414:15253:0:0,414 0/1:-144.661,0,-211.151:139:79:60:2145:2920 0/1:-605.332,0,-630.167:499:253:245:8775:9106 0/1:-454.869,0,-607.202:415:228:185:6737:8479:228,185 . . 0/1:-399.516,0,-568.897:380:214:165:5943:7887:214,165 0/1:-811.109,0,-784.024:627:306:319:11536:11275 0/1:-408.773,0,-508.447:361:193:166:6021:7157 0/1:-470.16,0,-466.832:365:180:185:6713:6672:180,185 1/1:-1281.09,-120.004,0:412:1:409:14881:39:1,409 0/1:-604.493,0,-682.844:518:267:248:8740:9733 1/1:-1889.13,-181.428,0:612:2:609:21985:51:2,609 . 0/1:-516.299,0,-523.168:403:204:199:7354:7497 0/1:-671.304,0,-609.77:506:238:266:9514:8861 0/1:-527.495,0,-455.649:383:178:205:7474:6672:178,205 . 0/1:-310.231,0,-520.157:320:191:129:4699:7136 0/1:-689.142,0,-561.49:489:220:268:9669:8200 0/1:-658.44,0,-821.745:570:309:260:9602:11520:309,260 0/1:-260.552,0,-321.273:231:125:105:3813:4515:125,105 0/1:-269.367,0,-311.516:230:122:107:3904:4385 1/1:-1434.12,-134.259,0:447:0:446:16571:0 . 1/1:-2066.4,-196.239,0:659:1:656:23912:17:1,656 0/1:-551.076,0,-621.672:483:251:228:8006:8875 0/1:-663.81,0,-710.126:552:279:271:9616:10146:279,271 0/1:-405.894,0,-324.058:293:131:162:5669:4758 1/1:-1947.55,-193.522,0:650:1:647:22670:17 . . 1/1:-1247.56,-116.173,0:397:1:396:14438:34 1/1:-1036.35,-97.8348,0:325:0:325:11943:0 0/1:-539.573,0,-449.7:376:172:204:7535:6509 1/1:-730.847,-67.038,0:229:1:228:8475:19 0/1:-548.787,0,-549.265:435:213:220:7890:7908 +chr19 35524939 . C A 7570.23 . AB=0;ABP=0;AC=17;AF=1;AN=28;AO=404;CIGAR=1X;DP=7017;DPB=405;DPRA=0;EPP=14.3837;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.7698;MQMR=42;NS=1;NUMALT=1;ODDS=558.448;PAIRED=0.99505;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14943;QR=16;RO=1;RPL=201;RPP=3.0318;RPPR=5.18177;RPR=203;RUN=1;SAF=214;SAP=6.10626;SAR=190;SF=0,3,6,8,12,16,18,20,21,23,25,26,29,32;SRF=1;SRP=5.18177;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-1287.11,-120.318,0:405:1:404:14943:16:1,404 . . 0/1:-403.858,0,-683.979:424:254:170:6225:9388:254,170 . . 0/1:-412.017,0,-681.842:424:252:172:6236:9352:252,172 . 0/1:-440.901,0,-513.941:375:198:176:6442:7243 . . . 0/1:-859.015,0,-969.238:710:371:338:12469:13759:371,338 . . . 0/1:-622.932,0,-626.577:490:241:248:8970:8979:241,248 . 0/1:-348.685,0,-410.004:295:157:138:5047:5773 . 0/1:-680.281,0,-854.564:586:319:267:9969:11959:319,267 0/1:-125.989,0,-590.315:282:214:66:2428:7805:214,66 . 1/1:-1682.08,-159.546,0:531:0:530:19512:0 . 0/1:-874.983,0,-905.33:707:356:351:12639:12941:356,351 0/1:-738.07,0,-750.173:605:303:300:10669:10785 . . 0/1:-790.315,0,-961.126:713:379:332:11658:13640 . . 1/1:-1474.76,-132.239,0:470:5:465:17146:102 . . . . +chr19 35524944 . G C 7890.93 . AB=0;ABP=0;AC=17;AF=1;AN=28;AO=433;CIGAR=1X;DP=7245;DPB=433;DPRA=0;EPP=9.15361;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7898;MQMR=0;NS=1;NUMALT=1;ODDS=604.871;PAIRED=0.995381;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=15998;QR=0;RO=0;RPL=196;RPP=11.4404;RPPR=0;RPR=237;RUN=1;SAF=229;SAP=6.14464;SAR=204;SF=0,3,6,8,12,16,18,20,21,23,25,26,29,32;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-1383.28,-130.346,0:433:0:433:15998:0:0,433 . . 0/1:-426.315,0,-692.846:434:256:176:6508:9505:256,176 . . 0/1:-442.13,0,-699.301:443:260:181:6634:9586:260,181 . 0/1:-455.348,0,-545.193:391:210:180:6634:7640 . . . 0/1:-871.262,0,-970.991:724:379:344:12628:13825:379,344 . . . 0/1:-627.901,0,-644.453:496:247:248:9016:9210:247,248 . 0/1:-357.859,0,-421.869:303:162:141:5171:5921 . 0/1:-720.654,0,-859.538:611:326:285:10475:12079:326,285 0/1:-137.056,0,-588.748:286:216:70:2568:7781:216,70 . 1/1:-1758.62,-166.771,0:555:0:554:20361:0 . 0/1:-905.305,0,-962.444:733:370:360:13032:13664:370,360 0/1:-748.846,0,-743.658:605:299:305:10788:10706 . . 0/1:-845.552,0,-1011.3:749:397:350:12413:14328 . . 1/1:-1513.34,-138.944,0:482:3:479:17530:68 . . . . +chr19 35530073 . T C 4539.89 . AB=0.500986;ABP=3.01458;AC=7;AF=0.5;AN=14;AO=254;CIGAR=1X;DP=2569;DPB=507;DPRA=0;EPP=18.0909;EPPR=39.273;GTI=0;LEN=1;MEANALT=1;MQM=41.4646;MQMR=41.4111;NS=1;NUMALT=1;ODDS=1462.62;PAIRED=0.984252;PAIREDR=0.976285;PAO=0;PQA=0;PQR=0;PRO=0;QA=9284;QR=9450;RO=253;RPL=119;RPP=5.19887;RPPR=6.10873;RPR=135;RUN=1;SAF=137;SAP=6.42994;SAR=117;SF=2,4,16,21,24,28,34;SRF=117;SRP=6.10873;SRR=136;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-644.63,0,-658.206:507:253:254:9284:9450 . 0/1:-663.496,0,-762.092:543:285:258:9584:10757 . . . . . . . . . . . 0/1:-602.542,0,-511.341:425:197:228:8430:7417:197,228 . . . . 0/1:-96.9299,0,-349.541:172:125:47:1708:4646:125,47 . . 0/1:-321.339,0,-292.957:237:113:124:4527:4229:113,124 . . . 0/1:-385.777,0,-340.811:283:134:149:5449:4974 . . . . . 0/1:-541.296,0,-514.347:402:195:207:7659:7352 . . +chr19 35530514 . T G 2353.33 . AB=0.495833;ABP=3.04649;AC=5;AF=0.5;AN=10;AO=119;CIGAR=1X;DP=1072;DPB=240;DPRA=0;EPP=3.02855;EPPR=8.87328;GTI=0;LEN=1;MEANALT=2;MQM=40.8908;MQMR=41.9833;NS=1;NUMALT=1;ODDS=633.192;PAIRED=0.97479;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4228;QR=4318;RO=120;RPL=27;RPP=80.1067;RPPR=96.8179;RPR=92;RUN=1;SAF=71;SAP=12.6633;SAR=48;SF=2,4,16,21,28;SRF=69;SRP=8.87328;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-290.727,0,-303.428:240:120:119:4228:4318 . 0/1:-355.451,0,-501.342:338:192:146:5316:7024 . . . . . . . . . . . 0/1:-336.962,0,-297.037:252:119:133:4785:4329:119,133 . . . . 0/1:-61.1175,0,-178.673:95:66:29:1044:2378:66,29 . . . . . . 0/1:-207.193,0,-165.237:147:67:80:2892:2409 . . . . . . . . +chr19 35530525 . C A 2698.25 . AB=0.512727;ABP=3.39722;AC=5;AF=0.5;AN=10;AO=141;CIGAR=1X;DP=1160;DPB=275;DPRA=0;EPP=4.87376;EPPR=3.41847;GTI=0;LEN=1;MEANALT=2;MQM=41.0355;MQMR=41.985;NS=1;NUMALT=1;ODDS=724.563;PAIRED=0.978723;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5073;QR=4812;RO=133;RPL=41;RPP=56.6195;RPPR=115.486;RPR=100;RUN=1;SAF=82;SAP=11.1572;SAR=59;SF=2,4,16,21,28;SRF=76;SRP=8.9043;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-351.742,0,-334.168:275:133:141:5073:4812 . 0/1:-396.046,0,-517.029:360:196:162:5852:7284 . . . . . . . . . . . 0/1:-352.575,0,-315.525:264:126:138:5028:4616:126,138 . . . . 0/1:-71.9444,0,-175.726:98:67:31:1185:2357:67,31 . . . . . . 0/1:-239.131,0,-168.066:163:69:94:3320:2501 . . . . . . . . +chr19 35530641 . G A 2253.18 . AB=0.490291;ABP=3.17896;AC=1;AF=0.5;AN=2;AO=101;CIGAR=1X;DP=206;DPB=206;DPRA=0;EPP=16.4476;EPPR=8.98702;GTI=0;LEN=1;MEANALT=1;MQM=41.9802;MQMR=41.8;NS=1;NUMALT=1;ODDS=518.813;PAIRED=1;PAIREDR=0.990476;PAO=0;PQA=0;PQR=0;PRO=0;QA=3440;QR=3781;RO=105;RPL=70;RPP=35.7114;RPPR=28.3441;RPR=31;RUN=1;SAF=44;SAP=6.64375;SAR=57;SF=33;SRF=44;SRP=8.98702;SRR=61;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SCN1B;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs28365108;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0032;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0042;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0049;ExAC_nontcga_OTH=0.0044;ExAC_nontcga_SAS=0.0010;AF=0.0016;AF_popmax=0.0071;AF_male=0.0014;AF_female=0.0019;AF_raw=0.0016;AF_afr=0.0006;AF_sas=.;AF_amr=0.0071;AF_eas=0;AF_nfe=0.0018;AF_fin=0.0003;AF_asj=0.0207;AF_oth=0.0037;non_topmed_AF_popmax=0.0074;non_neuro_AF_popmax=0.0072;non_cancer_AF_popmax=.;controls_AF_popmax=0.0122;Kaviar_AF=0.0032665;Kaviar_AC=505;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000588898|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.511779;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-236.921,0,-266.512:206:105:101:3440:3781 . . . +chr19 47109176 . A G 4363.66 . AB=0.5;ABP=3.0103;AC=3;AF=0.5;AN=4;AO=131;CIGAR=1X;DP=444;DPB=262;DPRA=0;EPP=6.73993;EPPR=4.07933;GTI=0;LEN=1;MEANALT=2;MQM=41.7176;MQMR=41.7077;NS=1;NUMALT=1;ODDS=718.681;PAIRED=0.992366;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4860;QR=4929;RO=130;RPL=113;RPP=152.61;RPPR=115.326;RPR=18;RUN=1;SAF=40;SAP=46.1248;SAR=91;SF=4,9;SRF=45;SRP=29.7361;SRR=85;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs371227609;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0010;AF_popmax=0.0016;AF_male=0.0011;AF_female=0.0009;AF_raw=0.0010;AF_afr=0.0003;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=0.0012;non_neuro_AF_popmax=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;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:GL:DP:RO:AO:QA:QR:AD . . . . 0/1:-340.167,0,-344.92:262:130:131:4860:4929 . . . . 1/1:-586.981,-54.7875,0:182:0:182:6804:0:0,182 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr19 47111591 . G T 22.49 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=7.35324;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=4.31164;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=78;QR=73;RO=2;RPL=1;RPP=3.0103;RPPR=7.35324;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=31;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=CALM3:NM_001329925:exon2:c.G64T:p.A22S,CALM3:NM_001329921:exon3:c.G64T:p.A22S,CALM3:NM_001329922:exon3:c.G172T:p.A58S,CALM3:NM_001329924:exon3:c.G64T:p.A22S,CALM3:NM_001329926:exon3:c.G64T:p.A22S,CALM3:NM_005184:exon3:c.G172T:p.A58S,CALM3:NM_001329923:exon4:c.G64T:p.A22S;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=0.001;LRT_converted_rankscore=0.393;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=0.395;MutationAssessor_score_rankscore=0.123;MutationAssessor_pred=N;FATHMM_score=-1.2;FATHMM_converted_rankscore=0.846;FATHMM_pred=T;PROVEAN_score=-2.38;PROVEAN_converted_rankscore=0.524;PROVEAN_pred=N;VEST3_score=0.564;VEST3_rankscore=0.632;MetaSVM_score=0.165;MetaSVM_rankscore=0.853;MetaSVM_pred=D;MetaLR_score=0.546;MetaLR_rankscore=0.833;MetaLR_pred=D;M-CAP_score=0.063;M-CAP_rankscore=0.690;M-CAP_pred=D;REVEL_score=0.584;REVEL_rankscore=0.835;MutPred_score=0.4;MutPred_rankscore=0.430;CADD_raw=3.363;CADD_raw_rankscore=0.463;CADD_phred=22.9;DANN_score=0.968;DANN_rankscore=0.305;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.801;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.481;Eigen-PC-raw=0.587;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=5.18;GERP++_RS_rankscore=0.710;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=16.230;SiPhy_29way_logOdds_rankscore=0.821;Interpro_domain=EF-Hand_1,_calcium-binding_site|EF-hand_domain|EF-hand_domain_pair;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.87069,0,-5.50261:4:2:2:78:73 . . . . . +chr19 47112261 . C G 231.23 . AB=0.578947;ABP=4.03889;AC=1;AF=0.5;AN=2;AO=11;CIGAR=1X;DP=19;DPB=19;DPRA=0;EPP=3.20771;EPPR=12.7819;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=26.714;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=415;QR=289;RO=8;RPL=5;RPP=3.20771;RPPR=12.7819;RPR=6;RUN=1;SAF=11;SAP=26.8965;SAR=0;SF=32;SRF=8;SRP=20.3821;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM3;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs745378856;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3dOREG1487862|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-30.569,0,-19.8615:19:8:11:415:289 . . . . +chr19 47112357 . CCTCTCTCTCTG CCTCTCTCTG 817.10 . AB=0.425532;ABP=7.53805;AC=1;AF=0.5;AN=2;AO=40;CIGAR=1M2D9M;DP=94;DPB=92.75;DPRA=0;EPP=10.8276;EPPR=3.73412;GTI=0;LEN=2;MEANALT=4;MQM=41.9;MQMR=42;NS=1;NUMALT=1;ODDS=188.144;PAIRED=1;PAIREDR=1;PAO=7.5;PQA=195;PQR=151;PRO=5.5;QA=1388;QR=1676;RO=48;RPL=9;RPP=29.2851;RPPR=24.906;RPR=31;RUN=1;SAF=19;SAP=3.22745;SAR=21;SF=32;SRF=21;SRP=4.6389;SRR=27;TYPE=del;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 GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-91.1405,0,-112.819:94:48:40:1388:1676 . . . . +chr19 47258842 . C T 1985.65 . AB=0.605839;ABP=16.3403;AC=13;AF=0.5;AN=24;AO=83;CIGAR=1X;DP=1655;DPB=137;DPRA=0;EPP=14.5479;EPPR=6.32897;GTI=0;LEN=1;MEANALT=2;MQM=41.9036;MQMR=41.9623;NS=1;NUMALT=1;ODDS=278.389;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2927;QR=1971;RO=53;RPL=60;RPP=38.8265;RPPR=9.93443;RPR=23;RUN=1;SAF=37;SAP=5.12945;SAR=46;SF=0,2,3,10,12,19,21,28,31,33,34,36;SRF=21;SRP=7.96781;SRR=32;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-213.469,0,-129.897:137:53:83:2927:1971:53,83 . 0/1:-209.092,0,-142.823:152:65:86:2934:2189 0/1:-209.383,0,-113.812:131:50:80:2878:1761:50,80 . . . . . . 1/1:-503.318,-45.7701,0:164:2:162:5862:38:2,162 . 0/1:-260.689,0,-177.252:177:77:100:3624:2671:77,100 . . . . . . 0/1:-163.612,0,-115.908:118:48:67:2312:1740 . 0/1:-42.4548,0,-150.646:82:58:23:767:2004:58,23 . . . . . . 0/1:-131.539,0,-108.982:104:49:55:1891:1634 . . 0/1:-200.221,0,-147.22:146:63:79:2791:2185 . 0/1:-240.25,0,-170.471:166:69:97:3327:2551 0/1:-154.899,0,-127.745:115:52:62:2189:1867 . 0/1:-174.139,0,-213.518:163:86:76:2592:3083 +chr19 47259117 . C A 12.97 . AB=0.333333;ABP=4.45795;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=6;DPB=6;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=2.3028;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=75;QR=82;RO=4;RPL=0;RPP=7.35324;RPPR=11.6962;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=34;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C410A:p.A137E,FKRP:NM_024301:exon4:c.C410A:p.A137E;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.509;SIFT_converted_rankscore=0.075;SIFT_pred=T;Polyphen2_HDIV_score=0.005;Polyphen2_HDIV_rankscore=0.119;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.121;Polyphen2_HVAR_pred=B;LRT_score=0.768;LRT_converted_rankscore=0.096;LRT_pred=N;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=-3.94;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-0.73;PROVEAN_converted_rankscore=0.206;PROVEAN_pred=N;VEST3_score=0.166;VEST3_rankscore=0.207;MetaSVM_score=0.750;MetaSVM_rankscore=0.938;MetaSVM_pred=D;MetaLR_score=0.889;MetaLR_rankscore=0.963;MetaLR_pred=D;M-CAP_score=0.244;M-CAP_rankscore=0.889;M-CAP_pred=D;REVEL_score=0.324;REVEL_rankscore=0.650;MutPred_score=0.211;MutPred_rankscore=0.130;CADD_raw=-1.212;CADD_raw_rankscore=0.025;CADD_phred=0.006;DANN_score=0.706;DANN_rankscore=0.091;fathmm-MKL_coding_score=0.085;fathmm-MKL_coding_rankscore=0.142;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.018;Eigen-PC-raw=-1.028;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.362;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=1.01;GERP++_RS_rankscore=0.190;phyloP100way_vertebrate=0.332;phyloP100way_vertebrate_rankscore=0.194;phyloP20way_mammalian=0.029;phyloP20way_mammalian_rankscore=0.149;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.024;phastCons20way_mammalian_rankscore=0.140;SiPhy_29way_logOdds=8.999;SiPhy_29way_logOdds_rankscore=0.350;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.292657;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.06723,0,-5.68624:6:4:2:75:82 . . +chr19 47259134 . C A 425.37 . AB=0.818182;ABP=22.3561;AC=2;AF=0.5;AN=4;AO=18;CIGAR=1X;DP=50;DPB=22;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1.13811;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=649;QR=144;RO=4;RPL=12;RPP=7.35324;RPPR=11.6962;RPR=6;RUN=1;SAF=9;SAP=3.0103;SAR=9;SF=11,36;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-49.7773,0,-6.32023:22:4:18:649:144 . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-49.0965,0,-15.3845:28:8:20:658:268 +chr19 47259135 . G A 13.87 . AB=0.333333;ABP=4.45795;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=6;DPB=6;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.15171;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=77;QR=145;RO=4;RPL=0;RPP=7.35324;RPPR=3.0103;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=18;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.G428A:p.R143H,FKRP:NM_024301:exon4:c.G428A:p.R143H;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.151;SIFT_converted_rankscore=0.245;SIFT_pred=T;Polyphen2_HDIV_score=0.004;Polyphen2_HDIV_rankscore=0.112;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=0.434;LRT_pred=N;MutationTaster_score=0.958;MutationTaster_converted_rankscore=0.380;MutationTaster_pred=D;MutationAssessor_score=1.445;MutationAssessor_score_rankscore=0.365;MutationAssessor_pred=L;FATHMM_score=-4.11;FATHMM_converted_rankscore=0.995;FATHMM_pred=D;PROVEAN_score=-1.39;PROVEAN_converted_rankscore=0.344;PROVEAN_pred=N;VEST3_score=0.069;VEST3_rankscore=0.056;MetaSVM_score=0.451;MetaSVM_rankscore=0.899;MetaSVM_pred=D;MetaLR_score=0.924;MetaLR_rankscore=0.975;MetaLR_pred=D;M-CAP_score=0.333;M-CAP_rankscore=0.918;M-CAP_pred=D;REVEL_score=0.328;REVEL_rankscore=0.654;MutPred_score=0.384;MutPred_rankscore=0.404;CADD_raw=0.418;CADD_raw_rankscore=0.134;CADD_phred=6.770;DANN_score=0.993;DANN_rankscore=0.569;fathmm-MKL_coding_score=0.865;fathmm-MKL_coding_rankscore=0.455;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.820;Eigen-PC-raw=-0.821;GenoCanyon_score=0.992;GenoCanyon_score_rankscore=0.327;integrated_fitCons_score=0.660;integrated_fitCons_score_rankscore=0.495;integrated_confidence_value=0;GERP++_RS=-2.81;GERP++_RS_rankscore=0.054;phyloP100way_vertebrate=1.014;phyloP100way_vertebrate_rankscore=0.293;phyloP20way_mammalian=0.084;phyloP20way_mammalian_rankscore=0.191;phastCons100way_vertebrate=0.058;phastCons100way_vertebrate_rankscore=0.215;phastCons20way_mammalian=0.416;phastCons20way_mammalian_rankscore=0.257;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=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.256031;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-5.20298,0,-11.2162:6:4:2:77:145 . . . . . . . . . . . . . . . . . . +chr19 47259469 . C A 31.68 . AB=0.666667;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40;NS=1;NUMALT=1;ODDS=2.52364;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=71;QR=32;RO=1;RPL=0;RPP=7.35324;RPPR=5.18177;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=34;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKRP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKRP:NM_001039885:exon4:c.C762A:p.R254R,FKRP:NM_024301:exon4:c.C762A:p.R254R;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=Name\x3dOREG1506101|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.592428;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.66789,0,-2.23306:3:1:2:71:32 . . +chr19 49661071 . C A 29.63 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=6.81976;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=44;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=3;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=TRPM4;GeneDetail.refGene=NM_001321283:c.-10520C>A\x3bNM_001321285:c.-13596C>A\x3bNM_001321281:c.-53C>A\x3bNM_001321282:c.-25264C>A\x3bNM_001195227:c.-53C>A\x3bNM_017636:c.-53C>A;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=Name\x3dENSR00000110849|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1195783|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.466984;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-4.1659,-0.60206,0:2:0:2:44:0:0,2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr19 49661112 . G A 1302.70 . AB=0.785714;ABP=52.644;AC=15;AF=0.5;AN=26;AO=55;CIGAR=1X;DP=1004;DPB=70;DPRA=0;EPP=7.78754;EPPR=4.51363;GTI=0;LEN=1;MEANALT=3;MQM=40.7273;MQMR=41.8462;NS=1;NUMALT=1;ODDS=14.5505;PAIRED=0.945455;PAIREDR=0.769231;PAO=0;PQA=0;PQR=0;PRO=0;QA=1960;QR=447;RO=13;RPL=28;RPP=3.04978;RPPR=16.5402;RPR=27;RUN=1;SAF=33;SAP=7.78754;SAR=22;SF=2,6,7,9,15,17,20,24,25,29,32,34,35;SRF=8;SRP=4.51363;SRR=5;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-148.924,0,-18.9217:70:13:55:1960:447 . . . 0/1:-54.2783,0,-33.8355:36:15:21:763:509:15,21 1/1:-416.322,-41.2411,0:137:0:137:4829:0 . 0/1:-107.206,0,-90.6794:81:37:43:1510:1315:37,43 . . . . . 0/1:-92.0924,0,-59.796:60:24:36:1261:892 . 0/1:-73.2615,0,-96.9249:67:38:29:1070:1338 . . 1/1:-434.007,-41.0788,0:145:2:142:5022:26:2,142 . . . 0/1:-43.6058,0,-12.8841:23:6:17:588:224:6,17 0/1:-115.084,0,-185.24:119:71:48:1728:2531:71,48 . . . 0/1:-126.94,0,-137.912:106:56:50:1821:1943 . . 0/1:-63.8767,0,-72.8713:57:29:28:993:1029 . 0/1:-93.6309,0,-73.225:70:31:39:1311:1092 0/1:-22.6081,0,-57.2001:33:23:10:370:798 . +chr19 49661439 . C T 5081.78 . AB=0.501211;ABP=3.01556;AC=1;AF=0.5;AN=2;AO=207;CIGAR=1X;DP=413;DPB=413;DPRA=0;EPP=6.79726;EPPR=3.17896;GTI=0;LEN=1;MEANALT=1;MQM=41.3527;MQMR=41.5922;NS=1;NUMALT=1;ODDS=1143.52;PAIRED=0.990338;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7584;QR=7445;RO=206;RPL=50;RPP=123.113;RPPR=125.962;RPR=157;RUN=1;SAF=114;SAP=7.63648;SAR=93;SF=27;SRF=126;SRP=25.3153;SRR=80;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369312031;CLNALLELEID=377589;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=0.0013;dbscSNV_RF_SCORE=0.014;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=9.203e-05;ExAC_nontcga_OTH=0.0014;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=6.47e-05;Kaviar_AC=10;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\x3d99.402184;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-527.835,0,-518.013:413:206:207:7584:7445:206,207 . . . . . . . . . +chr19 49661547 . A G 2571.03 . AB=0.517094;ABP=3.60421;AC=15;AF=0.5;AN=30;AO=121;CIGAR=1X;DP=3492;DPB=234;DPRA=0;EPP=3.17181;EPPR=10.7656;GTI=0;LEN=1;MEANALT=2;MQM=41.9669;MQMR=41.9643;NS=1;NUMALT=1;ODDS=616.732;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4312;QR=4053;RO=112;RPL=88;RPP=57.2971;RPPR=47.6806;RPR=33;RUN=1;SAF=49;SAP=12.5038;SAR=72;SF=0,3,6,10,13,17,19,21,23,27,31,32,34,35,36;SRF=40;SRP=22.8638;SRR=72;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-305.873,0,-281.91:234:112:121:4312:4053:112,121 . . 0/1:-253.41,0,-360.048:241:138:103:3740:5014:138,103 . . 0/1:-219.821,0,-280.275:204:112:92:3218:3939:112,92 . . . 0/1:-397.171,0,-299.069:281:125:155:5549:4451:125,155 . . 0/1:-322.331,0,-373.22:280:148:130:4670:5298 . . . 0/1:-327.408,0,-288.171:252:118:132:4637:4187 . 0/1:-384.618,0,-370.924:305:149:156:5475:5327 . 0/1:-50.9037,0,-206.936:108:80:28:951:2765:80,28 . 0/1:-342.112,0,-360.548:277:141:136:4898:5171 . . . 0/1:-375.82,0,-437.52:344:182:162:5540:6271:182,162 . . . 0/1:-188.44,0,-183.708:157:79:78:2698:2640 0/1:-242.222,0,-271.307:204:108:96:3491:3822 . 0/1:-221.539,0,-271.921:197:105:91:3231:3812 0/1:-108.588,0,-220.5:133:83:50:1700:2996 0/1:-339.889,0,-327.105:275:134:138:4837:4730 +chr19 49661582 . T C 4080.73 . AB=0;ABP=0;AC=59;AF=1;AN=72;AO=151;CIGAR=1X;DP=6494;DPB=151;DPRA=0;EPP=4.75035;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.947;MQMR=0;NS=1;NUMALT=1;ODDS=213.936;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5460;QR=0;RO=0;RPL=115;RPP=92.7597;RPPR=0;RPR=36;RUN=1;SAF=45;SAP=56.5206;SAR=106;SF=0,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-474.765,-45.4555,0:151:0:151:5460:0:0,151 . 1/1:-660.475,-65.3235,0:217:0:217:7588:0 0/1:-187.611,0,-246.725:170:96:74:2749:3450:96,74 0/1:-312.928,0,-299.553:243:120:123:4444:4281 1/1:-830.538,-78.5124,0:270:1:268:9605:27:1,268 1/1:-399.2,-39.1339,0:130:0:130:4604:0:0,130 0/1:-270.484,0,-426.247:283:167:115:4083:5892 0/1:-176.267,0,-202.469:151:79:72:2547:2848 0/1:-209.698,0,-238.588:178:93:83:3023:3350:93,83 1/1:-584.157,-56.2926,0:187:0:187:6765:0:0,187 0/1:-279.779,0,-305.765:243:126:116:4047:4339 1/1:-841.608,-77.2782,0:273:3:270:9754:110:3,270 0/1:-194.622,0,-243.865:181:99:79:2855:3457 0/1:-194.189,0,-217.188:161:83:78:2789:3055 1/1:-613.461,-56.5433,0:204:2:202:7120:53 1/1:-558.561,-53.8844,0:179:0:179:6440:0:0,179 1/1:-510.231,-49.0679,0:165:0:163:5872:0 1/1:-428.422,-38.6114,0:139:1:137:4975:32 1/1:-574.513,-55.3895,0:184:0:184:6612:0 1/1:-591.009,-57.4967,0:191:0:191:6865:0:0,191 0/1:-148.421,0,-28.7391:73:17:56:1951:575:17,56 0/1:-129.349,0,-73.4478:85:34:51:1771:1129 1/1:-580.714,-55.0885,0:183:0:183:6733:0 1/1:-207.103,-20.7711,0:69:0:69:2376:0:0,69 1/1:-906.755,-88.2018,0:295:0:293:10450:0:0,293 0/1:-301.282,0,-297.39:251:124:126:4329:4269 0/1:-253.884,0,-305.236:237:126:110:3741:4391:126,110 1/1:-366.543,-36.7257,0:122:0:122:4205:0 1/1:-915.099,-92.1152,0:307:0:306:10504:0 0/1:-149.856,0,-210.708:148:82:65:2226:2926 1/1:-313.888,-31.0061,0:104:0:103:3604:0 1/1:-414.519,-38.8329,0:129:0:129:4774:0 1/1:-542.736,-51.8333,0:178:1:176:6253:16 1/1:-441.636,-42.4452,0:141:0:141:5094:0 1/1:-271.537,-26.4906,0:88:0:88:3118:0 1/1:-564.885,-55.3895,0:184:0:184:6493:0 +chr19 49671281 . G A 3233.84 . AB=0.54717;ABP=10.1803;AC=5;AF=0.5;AN=10;AO=203;CIGAR=1X;DP=1502;DPB=371;DPRA=0;EPP=3.87675;EPPR=3.0233;GTI=0;LEN=1;MEANALT=2;MQM=39.1576;MQMR=40.3054;NS=1;NUMALT=1;ODDS=837.171;PAIRED=0.960591;PAIREDR=0.958084;PAO=0;PQA=0;PQR=0;PRO=0;QA=6910;QR=5934;RO=167;RPL=146;RPP=87.7405;RPPR=125.354;RPR=57;RUN=1;SAF=81;SAP=20.9918;SAR=122;SF=2,3,7,21,22;SRF=65;SRP=20.8112;SRR=102;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-455.079,0,-386.084:371:167:203:6910:5934 0/1:-368.202,0,-380.518:318:160:156:5698:5730:160,156 . . . 0/1:-621.493,0,-615.048:525:262:262:9304:9200 . . . . . . . . . . . . . 0/1:-95.4181,0,-253.856:142:97:45:1583:3396:97,45 0/1:-164.027,0,-149.542:146:72:74:2591:2525 . . . . . . . . . . . . . . +chr19 49671503 . C T 1546.79 . AB=0.486842;ABP=3.23888;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1X;DP=152;DPB=152;DPRA=0;EPP=3.0103;EPPR=3.26411;GTI=0;LEN=1;MEANALT=2;MQM=40.6216;MQMR=41.974;NS=1;NUMALT=1;ODDS=356.161;PAIRED=0.972973;PAIREDR=0.974026;PAO=0;PQA=0;PQR=0;PRO=0;QA=2539;QR=2794;RO=77;RPL=10;RPP=88.5781;RPPR=82.2267;RPR=64;RUN=1;SAF=43;SAP=7.23587;SAR=31;SF=9;SRF=43;SRP=5.29458;SRR=34;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00938498;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs112328642;CLNALLELEID=507485;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0063;ExAC_nontcga_AFR=0.0132;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0.0319;AF=0.0031;AF_popmax=0.0103;AF_male=0.0031;AF_female=0.0031;AF_raw=0.0031;AF_afr=0.0103;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0103;non_neuro_AF_popmax=0.0106;non_cancer_AF_popmax=.;controls_AF_popmax=0.0101;Kaviar_AF=0.0050323;Kaviar_AC=778;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-170.787,0,-197.305:152:77:74:2539:2794:77,74 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr19 49674841 . G A 1804.04 . AB=0.467532;ABP=4.42035;AC=1;AF=0.5;AN=2;AO=72;CIGAR=1X;DP=154;DPB=154;DPRA=0;EPP=3.13094;EPPR=3.11623;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9512;NS=1;NUMALT=1;ODDS=415.395;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2699;QR=3114;RO=82;RPL=29;RPP=8.92153;RPPR=59.0449;RPR=43;RUN=1;SAF=34;SAP=3.49285;SAR=38;SF=35;SRF=42;SRP=3.11623;SRR=40;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon5:c.G16A:p.E6K,TRPM4:NM_001321281:exon6:c.G520A:p.E174K,TRPM4:NM_001321283:exon6:c.G343A:p.E115K,TRPM4:NM_001195227:exon8:c.G865A:p.E289K,TRPM4:NM_017636:exon8:c.G865A:p.E289K;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs770369257;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.419;SIFT_converted_rankscore=0.098;SIFT_pred=T;Polyphen2_HDIV_score=0.979;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.549;Polyphen2_HVAR_rankscore=0.537;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.497;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.588;MutationTaster_pred=D;MutationAssessor_score=1.79;MutationAssessor_score_rankscore=0.469;MutationAssessor_pred=L;FATHMM_score=1.3;FATHMM_converted_rankscore=0.356;FATHMM_pred=T;PROVEAN_score=-1.34;PROVEAN_converted_rankscore=0.334;PROVEAN_pred=N;VEST3_score=0.718;VEST3_rankscore=0.801;MetaSVM_score=-1.074;MetaSVM_rankscore=0.085;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_rankscore=0.418;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.452;M-CAP_pred=T;REVEL_score=0.167;REVEL_rankscore=0.433;MutPred_score=0.604;MutPred_rankscore=0.736;CADD_raw=2.465;CADD_raw_rankscore=0.358;CADD_phred=19.24;DANN_score=0.998;DANN_rankscore=0.862;fathmm-MKL_coding_score=0.920;fathmm-MKL_coding_rankscore=0.545;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.312;Eigen-PC-raw=0.331;GenoCanyon_score=0.211;GenoCanyon_score_rankscore=0.182;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=2.382;phyloP100way_vertebrate_rankscore=0.438;phyloP20way_mammalian=0.978;phyloP20way_mammalian_rankscore=0.596;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.866;phastCons20way_mammalian_rankscore=0.362;SiPhy_29way_logOdds=11.751;SiPhy_29way_logOdds_rankscore=0.509;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=6.681e-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=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.454331;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-187.467,0,-222.939:154:82:72:2699:3114 . +chr19 49675017 . G T 2411.73 . AB=0.523077;ABP=4.21296;AC=5;AF=0.5;AN=10;AO=136;CIGAR=1X;DP=997;DPB=260;DPRA=0;EPP=6.13977;EPPR=6.44263;GTI=0;LEN=1;MEANALT=1;MQM=41.7059;MQMR=41.6452;NS=1;NUMALT=1;ODDS=670.932;PAIRED=1;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=5027;QR=4462;RO=124;RPL=101;RPP=72.5613;RPPR=83.9852;RPR=35;RUN=1;SAF=46;SAP=33.9218;SAR=90;SF=2,3,7,21,22;SRF=49;SRP=14.8483;SRR=75;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-355.495,0,-308.254:260:124:136:5027:4462 0/1:-294.917,0,-235.987:204:92:112:4115:3450:92,112 . . . 0/1:-429.104,0,-370.635:307:144:163:6037:5388 . . . . . . . . . . . . . 0/1:-58.3706,0,-214.803:107:78:29:1043:2842:78,29 0/1:-148.186,0,-152.584:119:59:60:2118:2172 . . . . . . . . . . . . . . +chr19 49675233 . C T 1742.91 . AB=0.533333;ABP=5.03701;AC=5;AF=0.5;AN=10;AO=112;CIGAR=1X;DP=849;DPB=210;DPRA=0;EPP=3.08785;EPPR=3.03269;GTI=0;LEN=1;MEANALT=2;MQM=41.4286;MQMR=41.8557;NS=1;NUMALT=1;ODDS=504.389;PAIRED=1;PAIREDR=0.989691;PAO=0;PQA=0;PQR=0;PRO=0;QA=3789;QR=3385;RO=97;RPL=23;RPP=87.4651;RPPR=56.7598;RPR=89;RUN=1;SAF=72;SAP=22.8638;SAR=40;SF=2,3,7,21,22;SRF=57;SRP=9.47994;SRR=40;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-267.413,0,-232.036:210:97:112:3789:3385 0/1:-254.588,0,-200.175:186:84:100:3582:3018:84,100 . . . 0/1:-269.269,0,-340.715:248:133:115:3971:4801 . . . . . . . . . . . . . 0/1:-42.2669,0,-183.926:94:68:25:803:2433:68,25 0/1:-113.277,0,-140.16:111:58:51:1695:1987 . . . . . . . . . . . . . . +chr19 49684586 . T A 2685.51 . AB=0.594872;ABP=18.2551;AC=1;AF=0.5;AN=2;AO=116;CIGAR=1X;DP=195;DPB=195;DPRA=0;EPP=79.6857;EPPR=60.1172;GTI=0;LEN=1;MEANALT=2;MQM=40.8793;MQMR=41.2727;NS=1;NUMALT=1;ODDS=368.37;PAIRED=0.991379;PAIREDR=0.961039;PAO=0;PQA=0;PQR=0;PRO=0;QA=4010;QR=2696;RO=77;RPL=38;RPP=32.9616;RPPR=4.39215;RPR=78;RUN=1;SAF=60;SAP=3.30981;SAR=56;SF=15;SRF=45;SRP=7.77626;SRR=32;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-287.995,0,-174.675:195:77:116:4010:2696 . . . . . . . . . . . . . . . . . . . . . +chr19 49692023 . C T 5263.91 . AB=0.478448;ABP=4.88226;AC=1;AF=0.5;AN=2;AO=222;CIGAR=1X;DP=464;DPB=464;DPRA=0;EPP=3.36243;EPPR=7.42624;GTI=0;LEN=1;MEANALT=2;MQM=41.3423;MQMR=41.7647;NS=1;NUMALT=1;ODDS=1212.06;PAIRED=0.990991;PAIREDR=0.987395;PAO=0;PQA=0;PQR=0;PRO=0;QA=7770;QR=8478;RO=238;RPL=127;RPP=13.0265;RPPR=19.1047;RPR=95;RUN=1;SAF=103;SAP=5.51434;SAR=119;SF=2;SRF=104;SRP=11.2218;SRR=134;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon8:c.C807T:p.G269G,TRPM4:NM_001321281:exon11:c.C1524T:p.G508G,TRPM4:NM_001321283:exon11:c.C1347T:p.G449G,TRPM4:NM_001321282:exon12:c.C261T:p.G87G,TRPM4:NM_001195227:exon13:c.C1869T:p.G623G,TRPM4:NM_017636:exon13:c.C1869T:p.G623G;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=Name\x3dOREG1518156|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.965449;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . 0/1:-535.041,0,-597.38:464:238:222:7770:8478 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr19 49693461 . A C 2047.48 . AB=0.508287;ABP=3.11827;AC=1;AF=0.5;AN=2;AO=92;CIGAR=1X;DP=181;DPB=181;DPRA=0;EPP=3.38795;EPPR=3.22989;GTI=0;LEN=1;MEANALT=1;MQM=38.7391;MQMR=39.2022;NS=1;NUMALT=1;ODDS=438.24;PAIRED=0.934783;PAIREDR=0.94382;PAO=0;PQA=0;PQR=0;PRO=0;QA=3212;QR=3014;RO=89;RPL=41;RPP=5.3706;RPPR=40.1205;RPR=51;RUN=1;SAF=51;SAP=5.3706;SAR=41;SF=15;SRF=49;SRP=4.98658;SRR=40;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369498574;CLNALLELEID=507503;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=0.0020;dbscSNV_RF_SCORE=0.084;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=0.0001;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.095e-05;AF=3.187e-05;AF_popmax=6.486e-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=6.486e-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=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\x3d99.291947;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 0/1:-211.735,0,-200.797:181:89:92:3212:3014 . . . . . . . . . . . . . . . . . . . . . +chr19 49699866 . C T 2401.62 . AB=0.462329;ABP=6.60959;AC=4;AF=0.5;AN=8;AO=135;CIGAR=1X;DP=885;DPB=292;DPRA=0;EPP=27.4756;EPPR=23.3714;GTI=0;LEN=1;MEANALT=3;MQM=41.3259;MQMR=41.974;NS=1;NUMALT=1;ODDS=713.425;PAIRED=0.985185;PAIREDR=0.993506;PAO=0;PQA=0;PQR=0;PRO=0;QA=4776;QR=5610;RO=154;RPL=43;RPP=41.6303;RPPR=35.4978;RPR=92;RUN=1;SAF=69;SAP=3.15506;SAR=66;SF=2,3,21,22;SRF=77;SRP=3.0103;SRR=77;TYPE=snp;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\x3dMIMAT0000104|hsa-miR-107|Experimental,MIMAT0000101|hsa-miR-103a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.734596;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . 0/1:-323.327,0,-399.87:292:154:135:4776:5610 0/1:-435.316,0,-437.457:333:168:165:6205:6240:168,165 . . . . . . . . . . . . . . . . . 0/1:-68.8163,0,-254.88:129:94:35:1236:3387:94,35 0/1:-177.853,0,-152.062:131:60:71:2528:2205 . . . . . . . . . . . . . . +chr19 49703651 . A T 2652.29 . AB=0.469136;ABP=5.02092;AC=1;AF=0.5;AN=2;AO=114;CIGAR=1X;DP=243;DPB=243;DPRA=0;EPP=4.22937;EPPR=3.28173;GTI=0;LEN=1;MEANALT=2;MQM=40.8246;MQMR=40.9297;NS=1;NUMALT=1;ODDS=610.713;PAIRED=0.973684;PAIREDR=0.867188;PAO=0;PQA=0;PQR=0;PRO=0;QA=4147;QR=4757;RO=128;RPL=83;RPP=54.5161;RPPR=7.35324;RPR=31;RUN=1;SAF=58;SAP=3.08649;SAR=56;SF=9;SRF=62;SRP=3.28173;SRR=66;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=TRPM4:NM_001321285:exon13:c.A1678T:p.K560X,TRPM4:NM_001321281:exon16:c.A2395T:p.K799X,TRPM4:NM_001321283:exon16:c.A2218T:p.K740X,TRPM4:NM_001195227:exon17:c.A2305T:p.K769X,TRPM4:NM_001321282:exon17:c.A1132T:p.K378X,TRPM4:NM_017636:exon18:c.A2740T:p.K914X;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140799936;CLNALLELEID=243381;CLNDN=Progressive_familial_heart_block_type_1B|not_specified|TRPM4-Related_Disorders|not_provided;CLNDISDB=MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN239424|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=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=16.146;CADD_raw_rankscore=0.999;CADD_phred=54;DANN_score=0.997;DANN_rankscore=0.800;fathmm-MKL_coding_score=0.952;fathmm-MKL_coding_rankscore=0.637;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.817;Eigen-PC-raw=0.664;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=4.21;GERP++_RS_rankscore=0.488;phyloP100way_vertebrate=8.826;phyloP100way_vertebrate_rankscore=0.916;phyloP20way_mammalian=1.028;phyloP20way_mammalian_rankscore=0.649;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=12.582;SiPhy_29way_logOdds_rankscore=0.556;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0019;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0003;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=0.0011;AF_popmax=0.0017;AF_male=0.0010;AF_female=0.0013;AF_raw=0.0011;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0017;AF_fin=0.0014;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0016;non_cancer_AF_popmax=.;controls_AF_popmax=0.0013;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\x3d99.394487;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-277.501,0,-333.181:243:128:114:4147:4757:128,114 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr19 49714439 . G A 2084.39 . AB=0.523256;ABP=3.81829;AC=1;AF=0.5;AN=2;AO=90;CIGAR=1X;DP=172;DPB=172;DPRA=0;EPP=3.39634;EPPR=3.98746;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.7125;NS=1;NUMALT=1;ODDS=405.137;PAIRED=0.988889;PAIREDR=0.9875;PAO=0;PQA=0;PQR=0;PRO=0;QA=3051;QR=2708;RO=80;RPL=48;RPP=3.87889;RPPR=13.8677;RPR=42;RUN=1;SAF=49;SAP=4.55446;SAR=41;SF=26;SRF=49;SRP=11.8048;SRR=31;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TRPM4;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TRPM4:NM_001321285:exon19:c.G2491A:p.V831I,TRPM4:NM_001321281:exon22:c.G3208A:p.V1070I,TRPM4:NM_001321283:exon22:c.G3031A:p.V1011I,TRPM4:NM_001195227:exon23:c.G3118A:p.V1040I,TRPM4:NM_001321282:exon23:c.G1945A:p.V649I,TRPM4:NM_017636:exon24:c.G3553A:p.V1185I;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758731104;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.131;SIFT_converted_rankscore=0.266;SIFT_pred=T;Polyphen2_HDIV_score=0.763;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.146;Polyphen2_HVAR_rankscore=0.470;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.362;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=2.34;MutationAssessor_score_rankscore=0.674;MutationAssessor_pred=M;FATHMM_score=0.36;FATHMM_converted_rankscore=0.586;FATHMM_pred=T;PROVEAN_score=-0.48;PROVEAN_converted_rankscore=0.154;PROVEAN_pred=N;VEST3_score=0.185;VEST3_rankscore=0.226;MetaSVM_score=-1.029;MetaSVM_rankscore=0.208;MetaSVM_pred=T;MetaLR_score=0.118;MetaLR_rankscore=0.415;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.380;M-CAP_pred=T;REVEL_score=0.057;REVEL_rankscore=0.167;MutPred_score=0.415;MutPred_rankscore=0.454;CADD_raw=1.618;CADD_raw_rankscore=0.256;CADD_phred=13.95;DANN_score=0.974;DANN_rankscore=0.334;fathmm-MKL_coding_score=0.383;fathmm-MKL_coding_rankscore=0.257;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.324;Eigen-PC-raw=-0.376;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=2.52;GERP++_RS_rankscore=0.294;phyloP100way_vertebrate=1.154;phyloP100way_vertebrate_rankscore=0.311;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.302;phastCons100way_vertebrate_rankscore=0.251;phastCons20way_mammalian=0.110;phastCons20way_mammalian_rankscore=0.193;SiPhy_29way_logOdds=5.829;SiPhy_29way_logOdds_rankscore=0.177;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.226e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.183e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3dENSR00000592527|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1753033|N/A|HNF4A|PAZAR,OREG1729593|N/A|HNF4A|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.396551;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-215.286,0,-184.498:172:80:90:3051:2708 . . . . . . . . . . +chr19 49714732 . C G 3840.77 . AB=0.512077;ABP=3.27256;AC=2;AF=0.5;AN=4;AO=106;CIGAR=1X;DP=575;DPB=207;DPRA=0;EPP=16.8586;EPPR=15.518;GTI=0;LEN=1;MEANALT=2;MQM=41.6792;MQMR=42;NS=1;NUMALT=1;ODDS=593.438;PAIRED=0.981132;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4000;QR=3807;RO=100;RPL=58;RPP=5.05886;RPPR=3.79203;RPR=48;RUN=1;SAF=50;SAP=3.74778;SAR=56;SF=14,25;SRF=39;SRP=13.5202;SRR=61;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . 0/1:-280.974,0,-266.694:207:100:106:4000:3807 . . . . . . . . . . 0/1:-505.07,0,-433.459:368:173:192:7123:6272:173,192 . . . . . . . . . . . +chr19 55665410 . C T 1932.54 . AB=0;ABP=0;AC=6;AF=1;AN=10;AO=148;CIGAR=1X;DP=633;DPB=148;DPRA=0;EPP=26.4857;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.1284;MQMR=0;NS=1;NUMALT=1;ODDS=209.777;PAIRED=0.993243;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5375;QR=0;RO=0;RPL=45;RPP=52.3673;RPPR=0;RPR=103;RUN=1;SAF=97;SAP=34.0565;SAR=51;SF=13,18,19,28,32;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-461.034,-44.5524,0:148:0:148:5375:0 . . . . 0/1:-121.571,0,-149.661:107:57:50:1769:2099 0/1:-146.91,0,-221.037:142:82:60:2192:3064 . . . . . . . . 0/1:-143.443,0,-92.4973:93:39:54:1976:1386 . . . 0/1:-155.534,0,-220.214:143:82:61:2298:3065 . . . . +chr19 55665584 . A C 6758.09 . AB=0;ABP=0;AC=74;AF=1;AN=74;AO=172;CIGAR=1X;DP=8312;DPB=173;DPRA=0;EPP=23.21;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.8953;MQMR=24;NS=1;NUMALT=1;ODDS=238.228;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6280;QR=14;RO=1;RPL=147;RPP=190.918;RPPR=5.18177;RPR=25;RUN=1;SAF=83;SAP=3.46479;SAR=89;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-542.935,-50.718,0:173:1:172:6280:14:1,172 1/1:-282.905,-27.3937,0:91:0:91:3252:0 1/1:-723.171,-71.0431,0:236:0:236:8370:0 1/1:-732.907,-63.0291,0:232:2:230:8538:75:2,230 1/1:-833.053,-78.8699,0:262:0:262:9629:0 1/1:-827.302,-77.9343,0:264:1:263:9555:16:1,263 1/1:-563.255,-53.2823,0:177:0:177:6528:0:0,177 1/1:-830.233,-79.6775,0:267:1:266:9603:13 1/1:-510.038,-49.0679,0:163:0:163:5887:0 1/1:-598.133,-56.5936,0:188:0:188:6891:0:0,188 1/1:-791.662,-77.0637,0:256:0:256:9126:0:0,256 1/1:-1080.6,-96.9118,0:345:2:343:12580:76 1/1:-1121.7,-106.565,0:357:0:354:12966:0:0,354 1/1:-824.142,-80.676,0:268:0:268:9497:0 1/1:-605.665,-57.1957,0:190:0:190:6974:0 1/1:-705.387,-66.1845,0:232:1:231:8238:38 1/1:-779.019,-74.6554,0:248:0:248:9024:0:0,248 1/1:-825.398,-79.1709,0:263:0:263:9585:0 1/1:-449.412,-43.6494,0:145:0:145:5205:0 1/1:-738.101,-71.9462,0:239:0:239:8555:0 1/1:-928.968,-90.008,0:299:0:299:10792:0:0,299 1/1:-371.774,-36.4246,0:121:0:121:4281:0:0,121 1/1:-444.102,-43.0473,0:143:0:143:5103:0 1/1:-834.541,-78.5688,0:261:0:261:9645:0 1/1:-269.348,-26.1896,0:87:0:87:3095:0:0,87 1/1:-1127.77,-109.274,0:363:0:363:13018:0:0,363 1/1:-955.01,-94.2224,0:313:0:313:10994:0 1/1:-1051.36,-99.942,0:332:0:332:12125:0:0,332 1/1:-564.811,-54.7875,0:182:0:182:6515:0 1/1:-1015.1,-99.0389,0:329:0:329:11749:0 1/1:-578.169,-55.3895,0:184:0:184:6649:0 1/1:-552.401,-50.5309,0:180:1:179:6405:38 1/1:-623.022,-59.3029,0:197:0:197:7173:0 1/1:-596.761,-57.7978,0:192:0:192:6886:0 1/1:-607.102,-57.7978,0:192:0:192:6995:0 1/1:-308.739,-28.8989,0:96:0:96:3559:0 1/1:-766.284,-73.4513,0:245:0:244:8858:0 +chr19 55667647 . C A 16.79 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=7.35324;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1.40111;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=69;QR=45;RO=2;RPL=2;RPP=7.35324;RPPR=3.0103;RPR=0;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=20;SRF=2;SRP=7.35324;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-5.19824,0,-3.02159:4:2:2:69:45:2,2 . . . . . . . . . . . . . . . . +chr19 55668397 . C T 2597.43 . AB=0;ABP=0;AC=6;AF=1;AN=10;AO=203;CIGAR=1X;DP=801;DPB=206;DPRA=0;EPP=3.10657;EPPR=9.52472;GTI=0;LEN=1;MEANALT=1;MQM=41.665;MQMR=41.3333;NS=1;NUMALT=1;ODDS=266.863;PAIRED=0.985222;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6967;QR=62;RO=3;RPL=57;RPP=87.7405;RPPR=3.73412;RPR=146;RUN=1;SAF=127;SAP=30.833;SAR=76;SF=13,18,19,28,32;SRF=1;SRP=3.73412;SRR=2;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-599.254,-56.2871,0:206:3:203:6967:62 . . . . 0/1:-134.644,0,-102.672:99:44:55:1935:1532 0/1:-289.585,0,-217.732:205:91:114:4080:3265 . . . . . . . . 0/1:-175.711,0,-130.918:129:57:72:2485:1966 . . . 0/1:-163.773,0,-237.516:162:92:70:2447:3294 . . . . +chr19 55668509 . A T 3048.01 . AB=0;ABP=0;AC=16;AF=1;AN=28;AO=242;CIGAR=1X;DP=2673;DPB=243;DPRA=0;EPP=9.07607;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.8843;MQMR=0;NS=1;NUMALT=1;ODDS=340.088;PAIRED=0.995868;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8609;QR=0;RO=0;RPL=167;RPP=78.958;RPPR=0;RPR=75;RUN=1;SAF=119;SAP=3.15387;SAR=123;SF=3,4,13,14,17,18,19,23,28,31,32,33,34,35;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-748.03,-72.8493,0:243:0:242:8609:0:0,242 0/1:-324.439,0,-243.15:223:99:123:4515:3574 . . . . . . . . 1/1:-799.803,-78.5688,0:261:0:261:9243:0 0/1:-252.827,0,-195.233:180:80:98:3535:2873 . . 0/1:-290.028,0,-385.278:267:149:118:4269:5372 0/1:-150.925,0,-138.331:115:56:59:2146:2017 0/1:-371.258,0,-266.627:254:111:142:5161:3996 . . . 0/1:-332.977,0,-289.822:248:113:134:4704:4202 . . . . 0/1:-210.723,0,-158.93:153:66:86:2977:2354 . . 0/1:-153.555,0,-111.86:107:46:61:2131:1654 0/1:-244.21,0,-212.219:179:85:94:3444:3093 0/1:-267.845,0,-235.092:195:93:102:3761:3404 0/1:-155.709,0,-276.029:169:102:66:2372:3777 0/1:-100.65,0,-104.642:79:40:39:1428:1491 . +chr19 55669004 . G A 366.44 . AB=0.413043;ABP=6.03148;AC=1;AF=0.5;AN=2;AO=19;CIGAR=1X;DP=46;DPB=46;DPRA=0;EPP=4.03889;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=38.2105;MQMR=42;NS=1;NUMALT=1;ODDS=84.3749;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=682;QR=968;RO=27;RPL=8;RPP=4.03889;RPPR=21.1059;RPR=11;RUN=1;SAF=10;SAP=3.12459;SAR=9;SF=3;SRF=12;SRP=3.73412;SRR=15;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-42.3087,0,-70.8059:46:27:19:682:968:27,19 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 47387986 . GACCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC GACCAAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 205.80 . AB=0;ABP=0;AC=1,1,1,2;AF=1;AN=6;AO=13;CIGAR=4M3D33M;DP=176;DPB=65.175;DPRA=0;EPP=16.5402;EPPR=0;GTI=0;LEN=3;MEANALT=34;MQM=41.2308;MQMR=0;NS=1;NUMALT=1;ODDS=6.29628;PAIRED=1;PAIREDR=0;PAO=0.333333;PQA=2.66667;PQR=2.66667;PRO=0.333333;QA=410;QR=0;RO=0;RPL=7;RPP=3.17734;RPPR=0;RPR=6;RUN=1;SAF=5;SAP=4.51363;SAR=8;SF=6,21,24;SRF=0;SRP=0;SRR=0;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs762347030;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1226;ExAC_nontcga_AFR=0.14;ExAC_nontcga_AMR=0.1875;ExAC_nontcga_EAS=0.2059;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0848;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.1458;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370967655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.0667;ExAC_nontcga_AMR=0.0625;ExAC_nontcga_EAS=0.0882;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0893;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.1458;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002652;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;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=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=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55773607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0594;ExAC_nontcga_AFR=0.0667;ExAC_nontcga_AMR=0.125;ExAC_nontcga_EAS=0.1471;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0357;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0625;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 4/4:-35.9137,.,.,.,.,.,.,.,.,.,-7.52575,.,.,.,0:71:0:.,.,.,13:.,.,.,410:0:0,13 . . . . . . . . . . . . . . 1/2:-36.4137,-19.176,-13.7574,-19.0484,0,-13.9309,.,.,.,.,.,.,.,.,.:60:0:12,11,.,.:254,253,.,.:0:0,12,11 . . 0/3:-4.13052,.,.,.,.,.,0,.,.,-4.3721,.,.,.,.,.:45:2:.,.,3,.:.,.,66,.:67:2,3 . . . . . . . . . . . . +chr2 47387988 . CCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CCAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 28.28 . AB=0.163121;ABP=142;AC=1;AF=0.5;AN=2;AO=23;CIGAR=2M1D35M;DP=141;DPB=139.737;DPRA=0;EPP=3.86001;EPPR=3.09072;GTI=0;LEN=1;MEANALT=59;MQM=36.087;MQMR=38.5926;NS=1;NUMALT=1;ODDS=6.51117;PAIRED=0.869565;PAIREDR=1;PAO=3.25;PQA=115.75;PQR=115.75;PRO=3.25;QA=493;QR=939;RO=27;RPL=14;RPP=5.3706;RPPR=12.7417;RPR=9;RUN=1;SAF=1;SAP=44.6459;SAR=22;SF=27;SRF=5;SRP=26.2531;SRR=22;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-12.3811,0,-45.8887:141:27:23:493:939:27,23 . . . . . . . . . +chr2 47387989 . CAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 517.70 . AB=0;ABP=0;AC=8,3,3,1,1;AF=1;AN=18;AO=13;CIGAR=1M6D30M;DP=1089;DPB=69.5676;DPRA=0;EPP=4.51363;EPPR=9.52472;GTI=0;LEN=6;MEANALT=25;MQM=35.8462;MQMR=30;NS=1;NUMALT=1;ODDS=5.15245;PAIRED=1;PAIREDR=0.333333;PAO=0.857143;PQA=31;PQR=31;PRO=0.857143;QA=320;QR=111;RO=3;RPL=12;RPP=23.2217;RPPR=9.52472;RPR=1;RUN=1;SAF=6;SAP=3.17734;SAR=7;SF=0,3,5,9,10,12,16,20,25;SRF=0;SRP=9.52472;SRR=3;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs762347030;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.1226;ExAC_nontcga_AFR=0.14;ExAC_nontcga_AMR=0.1875;ExAC_nontcga_EAS=0.2059;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0848;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.1458;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758406116;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0613;ExAC_nontcga_AFR=0.04;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0588;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0848;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0521;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0016041;Kaviar_AC=248;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=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370967655;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0939;ExAC_nontcga_AFR=0.0667;ExAC_nontcga_AMR=0.0625;ExAC_nontcga_EAS=0.0882;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0893;ExAC_nontcga_OTH=0.5;ExAC_nontcga_SAS=0.1458;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0002652;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55773607;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0594;ExAC_nontcga_AFR=0.0667;ExAC_nontcga_AMR=0.125;ExAC_nontcga_EAS=0.1471;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0.0357;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0625;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CALM2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs532993924;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0057;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0625;ExAC_nontcga_EAS=0.0294;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=0;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0104;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 2/2:-20.824,.,.,-10.3435,.,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:75:3:.,13,.,.,.:.,320,.,.,.:111:3,13 . . 1/1:-33.3938,-20.8809,0,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:106:0:22,.,.,.,.:421,.,.,.,.:0:0,22 . 4/1:-87.0274,-41.4053,-21.8384,.,.,.,.,.,.,.,-54.6601,0,.,.,-38.1035,.,.,.,.,.,.:123:0:35,.,.,25,.:748,.,.,572,.:0:0,25,35 . . . 0/1:-7.20856,0,-2.205,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:53:4:8,.,.,.,.:185,.,.,.,.:140:4,8 1/3:-56.2738,-42.075,-21.0029,.,.,.,-29.8571,0,.,-7.58093,.,.,.,.,.,.,.,.,.,.,.:98:0:18,.,22,.,.:406,.,562,.,.:0:0,18,22 . 1/3:-141.105,-70.2136,-43.7229,.,.,.,-82.9383,0,.,-59.1569,.,.,.,.,.,.,.,.,.,.,.:195:0:48,.,39,.,.:1120,.,953,.,.:0:0,48,39 . . . 0/5:-8.15322,.,.,.,.,.,.,.,.,.,.,.,.,.,.,0,.,.,.,.,-13.9284:90:10:.,.,.,.,10:.,.,.,.,290:367:10,10 . . . 1/3:-70.8263,-42.8033,-18.1188,.,.,.,-44.5846,0,.,-21.4053,.,.,.,.,.,.,.,.,.,.,.:117:0:27,.,22,.,.:595,.,571,.,.:0:0,27,22 . . . . 1/2:-117.142,-63.4516,-43.525,-62.1802,0,-39.3373,.,.,.,.,.,.,.,.,.,.,.,.,.,.,.:232:1:40,40,.,.,.:909,927,.,.,.:37:1,40,40 . . . . . . . . . . . +chr2 105977761 . G A 1129.91 . AB=0.461538;ABP=4.51363;AC=4;AF=0.5;AN=8;AO=54;CIGAR=1X;DP=421;DPB=117;DPRA=0;EPP=3.17115;EPPR=3.32051;GTI=0;LEN=1;MEANALT=1;MQM=41.6111;MQMR=42;NS=1;NUMALT=1;ODDS=305.067;PAIRED=0.981481;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2011;QR=2339;RO=63;RPL=25;RPP=3.6537;RPPR=10.7656;RPR=29;RUN=1;SAF=27;SAP=3.0103;SAR=27;SF=6,9,16,21;SRF=27;SRP=5.80219;SRR=36;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-138.749,0,-168.376:117:63:54:2011:2339:63,54 . . 0/1:-157.043,0,-137.306:113:54:59:2207:1965:54,59 . . . . . . 0/1:-131.114,0,-150.683:106:56:50:1887:2101:56,50 . . . . 0/1:-54.7251,0,-155.576:85:59:25:923:2089:59,25 . . . . . . . . . . . . . . . +chr2 105977776 . G A 2675.58 . AB=0.520202;ABP=3.71219;AC=3;AF=0.5;AN=6;AO=103;CIGAR=1X;DP=602;DPB=198;DPRA=0;EPP=4.04333;EPPR=3.21602;GTI=0;LEN=1;MEANALT=1;MQM=41.9806;MQMR=42;NS=1;NUMALT=1;ODDS=542.997;PAIRED=0.990291;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3806;QR=3494;RO=95;RPL=36;RPP=23.2703;RPPR=8.15326;RPR=67;RUN=1;SAF=47;SAP=4.71796;SAR=56;SF=5,6,25;SRF=38;SRP=11.2619;SRR=57;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-270.11,0,-243.755:198:95:103:3806:3494:95,103 0/1:-187.834,0,-154.299:133:61:71:2633:2234:61,71 . . . . . . . . . . . . . . . . . . 0/1:-369.707,0,-324.794:271:129:142:5215:4685:129,142 . . . . . . . . . . . +chr2 105977903 . G C 1817.08 . AB=0.583893;ABP=12.1188;AC=5;AF=0.5;AN=10;AO=87;CIGAR=1X;DP=767;DPB=149;DPRA=0;EPP=62.9379;EPPR=34.5317;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=328.65;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3273;QR=2330;RO=62;RPL=67;RPP=58.1457;RPPR=38.8746;RPR=20;RUN=1;SAF=48;SAP=5.03202;SAR=39;SF=0,5,10,12,21;SRF=31;SRP=3.0103;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-238.002,0,-156.744:149:62:87:3273:2330:62,87 . . . . 0/1:-215.854,0,-264.528:183:99:83:3134:3704:99,83 . . . . 0/1:-219.107,0,-98.994:123:43:80:2961:1567:43,80 . 0/1:-274.503,0,-215.414:185:82:102:3834:3137:82,102 . . . . . . . . 0/1:-56.5772,0,-277.909:127:97:30:1107:3656:97,30 . . . . . . . . . . . . . . . +chr2 105979730 . C A 7652.46 . AB=0.547619;ABP=9.62812;AC=11;AF=0.5;AN=16;AO=184;CIGAR=1X;DP=3126;DPB=336;DPRA=0;EPP=7.73089;EPPR=9.92473;GTI=0;LEN=1;MEANALT=1;MQM=41.7826;MQMR=41.875;NS=1;NUMALT=1;ODDS=837.577;PAIRED=0.994565;PAIREDR=0.993421;PAO=0;PQA=0;PQR=0;PRO=0;QA=6697;QR=5509;RO=152;RPL=70;RPP=25.858;RPPR=25.8679;RPR=114;RUN=1;SAF=122;SAP=45.4956;SAR=62;SF=6,9,16,20,21,24,25,27;SRF=101;SRP=38.7253;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-478.079,0,-377.947:336:152:184:6697:5509:152,184 . . 0/1:-454.321,0,-388.69:328:155:173:6392:5620:155,173 . . . . . . 1/1:-1435.19,-133.462,0:448:1:447:16582:14:1,447 . . . 1/1:-1666.08,-154.143,0:528:2:526:19267:52:2,526 0/1:-111.791,0,-345.685:182:129:53:1913:4595:129,53 . . 1/1:-738.152,-60.9723,0:235:3:232:8626:108:3,232 0/1:-765.422,0,-717.927:592:290:302:10867:10282:290,302 . 0/1:-630.337,0,-583.078:477:230:246:8922:8359:230,246 . . . . . . . . . +chr2 105979752 . G A 5457.49 . AB=0.502304;ABP=3.03031;AC=1;AF=0.5;AN=2;AO=218;CIGAR=1X;DP=434;DPB=434;DPRA=0;EPP=41.2999;EPPR=30.1939;GTI=0;LEN=1;MEANALT=1;MQM=41.5688;MQMR=41.8981;NS=1;NUMALT=1;ODDS=1234.17;PAIRED=0.990826;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8039;QR=7802;RO=216;RPL=103;RPP=4.44467;RPPR=10.8919;RPR=115;RUN=1;SAF=137;SAP=34.2476;SAR=81;SF=9;SRF=124;SRP=13.3047;SRR=92;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-560.123,0,-547.755:434:216:218:8039:7802:216,218 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 105979872 . G A 3944.20 . AB=0.411905;ABP=31.3222;AC=1;AF=0.5;AN=2;AO=173;CIGAR=1X;DP=420;DPB=420;DPRA=0;EPP=18.3863;EPPR=32.7047;GTI=0;LEN=1;MEANALT=2;MQM=41.6763;MQMR=41.9837;NS=1;NUMALT=1;ODDS=908.186;PAIRED=1;PAIREDR=0.98374;PAO=0;PQA=0;PQR=0;PRO=0;QA=6241;QR=8943;RO=246;RPL=106;RPP=22.1017;RPPR=71.3675;RPR=67;RUN=1;SAF=57;SAP=46.7033;SAR=116;SF=6;SRF=99;SRP=23.348;SRR=147;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FHL2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FHL2:NM_001318897:exon4:c.C216T:p.F72F,FHL2:NM_001318894:exon5:c.C558T:p.F186F,FHL2:NM_001318896:exon5:c.C558T:p.F186F,FHL2:NM_001318898:exon5:c.C216T:p.F72F,FHL2:NM_001450:exon5:c.C558T:p.F186F,FHL2:NM_201557:exon5:c.C558T:p.F186F,FHL2:NM_001039492:exon6:c.C558T:p.F186F,FHL2:NM_001318895:exon6:c.C558T:p.F186F,FHL2:NM_001318899:exon7:c.C234T:p.F78F,FHL2:NM_201555:exon7:c.C558T:p.F186F;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs892899914;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;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=-1.010;MetaSVM_rankscore=0.268;MetaSVM_pred=T;MetaLR_score=0.047;MetaLR_rankscore=0.202;MetaLR_pred=T;M-CAP_score=0.017;M-CAP_rankscore=0.381;M-CAP_pred=T;REVEL_score=0.205;REVEL_rankscore=0.497;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.339;CADD_raw_rankscore=0.225;CADD_phred=12.47;DANN_score=0.966;DANN_rankscore=0.300;fathmm-MKL_coding_score=0.393;fathmm-MKL_coding_rankscore=0.260;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.854;Eigen-PC-raw=-0.885;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.393;integrated_fitCons_score=0.646;integrated_fitCons_score_rankscore=0.442;integrated_confidence_value=0;GERP++_RS=-2.13;GERP++_RS_rankscore=0.067;phyloP100way_vertebrate=-0.236;phyloP100way_vertebrate_rankscore=0.089;phyloP20way_mammalian=-0.849;phyloP20way_mammalian_rankscore=0.029;phastCons100way_vertebrate=0.319;phastCons100way_vertebrate_rankscore=0.253;phastCons20way_mammalian=0.988;phastCons20way_mammalian_rankscore=0.529;SiPhy_29way_logOdds=13.790;SiPhy_29way_logOdds_rankscore=0.625;Interpro_domain=Zinc_finger,_LIM-type;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d95.875768;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-412.137,0,-649.493:420:246:173:6241:8943:246,173 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179393111 . A G 3763.64 . AB=0.58;ABP=19.6872;AC=2;AF=0.5;AN=4;AO=174;CIGAR=1X;DP=520;DPB=300;DPRA=0;EPP=3.20998;EPPR=4.73369;GTI=0;LEN=1;MEANALT=1;MQM=41.8506;MQMR=41.8571;NS=1;NUMALT=1;ODDS=696.466;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6509;QR=4662;RO=126;RPL=107;RPP=22.9779;RPPR=20.6578;RPR=67;RUN=1;SAF=106;SAP=21.031;SAR=68;SF=5,10;SRF=75;SRP=12.937;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-471.997,0,-313.857:300:126:174:6509:4662:126,174 . . . . 0/1:-302.281,0,-272.16:220:107:113:4261:3914:107,113 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179395067 . C G 1339.39 . AB=0.44186;ABP=8.06024;AC=3;AF=0.5;AN=6;AO=76;CIGAR=1X;DP=476;DPB=172;DPRA=0;EPP=3.0103;EPPR=9.61615;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.8;NS=1;NUMALT=1;ODDS=430.52;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2853;QR=3363;RO=95;RPL=26;RPP=19.4678;RPPR=37.7767;RPR=50;RUN=1;SAF=44;SAP=7.12467;SAR=32;SF=0,16,21;SRF=52;SRP=4.86177;SRR=43;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-195.823,0,-240.435:172:95:76:2853:3363:95,76 . . . . . . . . . . . . . . . 0/1:-204.051,0,-270.92:180:101:79:2982:3759:101,79 . . . . 0/1:-37.0485,0,-284.139:124:100:24:852:3707:100,24 . . . . . . . . . . . . . . . +chr2 179395560 . G A 4370.58 . AB=0.492537;ABP=3.20476;AC=2;AF=0.5;AN=4;AO=198;CIGAR=1X;DP=693;DPB=402;DPRA=0;EPP=6.56362;EPPR=3.0533;GTI=0;LEN=1;MEANALT=2;MQM=41.596;MQMR=42;NS=1;NUMALT=1;ODDS=1164.49;PAIRED=0.994949;PAIREDR=0.99505;PAO=0;PQA=0;PQR=0;PRO=0;QA=7373;QR=7431;RO=202;RPL=90;RPP=6.56362;RPPR=4.55828;RPR=108;RUN=1;SAF=104;SAP=4.107;SAR=94;SF=5,10;SRF=115;SRP=11.4382;SRR=87;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-513.7,0,-523.678:402:202:198:7373:7431:202,198 . . . . 0/1:-376.002,0,-385.518:291:148:143:5364:5448:148,143 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179395760 . G A 5243.64 . AB=0.553444;ABP=13.455;AC=2;AF=0.5;AN=4;AO=233;CIGAR=1X;DP=744;DPB=421;DPRA=0;EPP=9.80431;EPPR=23.3852;GTI=0;LEN=1;MEANALT=1;MQM=41.8026;MQMR=41.8936;NS=1;NUMALT=1;ODDS=1065.32;PAIRED=0.995708;PAIREDR=0.994681;PAO=0;PQA=0;PQR=0;PRO=0;QA=8551;QR=6955;RO=188;RPL=92;RPP=25.3867;RPPR=19.6891;RPR=141;RUN=1;SAF=116;SAP=3.01962;SAR=117;SF=5,10;SRF=100;SRP=4.67356;SRR=88;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-613.787,0,-474.703:421:188:233:8551:6955:188,233 . . . . 0/1:-460.272,0,-381.684:323:147:174:6443:5560:147,174 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179395958 . T C 5703.48 . AB=0.429412;ABP=17.7252;AC=8;AF=0.5;AN=14;AO=146;CIGAR=1X;DP=2616;DPB=340;DPRA=0;EPP=3.0103;EPPR=14.4721;GTI=0;LEN=1;MEANALT=1;MQM=41.6301;MQMR=41.9897;NS=1;NUMALT=1;ODDS=808.691;PAIRED=1;PAIREDR=0.994845;PAO=0;PQA=0;PQR=0;PRO=0;QA=5490;QR=7374;RO=194;RPL=47;RPP=43.2272;RPPR=54.7675;RPR=99;RUN=1;SAF=104;SAP=60.1825;SAR=42;SF=5,9,10,12,16,20,25;SRF=142;SRP=93.6749;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-369.531,0,-533.657:340:194:146:5490:7374:194,146 . . . 0/1:-337.507,0,-374.253:269:139:129:4840:5278:139,129 0/1:-378.114,0,-362.175:282:136:146:5346:5184:136,146 . 1/1:-1395.09,-130.647,0:436:0:434:16158:0:0,434 . . . 0/1:-406.477,0,-419.831:310:156:154:5786:5946:156,154 . . . 0/1:-559.529,0,-528.545:413:201:211:7918:7595:201,211 . . . . 0/1:-683.298,0,-804.308:566:297:269:9914:11304:297,269 . . . . . . . . . . . +chr2 179396162 . C G 6897.60 . AB=0.448947;ABP=16.9788;AC=1;AF=0.5;AN=2;AO=277;CIGAR=1X;DP=617;DPB=617;DPRA=0;EPP=8.72511;EPPR=35.3005;GTI=0;LEN=1;MEANALT=2;MQM=41.9856;MQMR=41.6637;NS=1;NUMALT=1;ODDS=1588.23;PAIRED=0.99639;PAIREDR=0.99115;PAO=0;PQA=0;PQR=0;PRO=0;QA=10279;QR=12169;RO=339;RPL=173;RPP=40.333;RPPR=28.4338;RPR=104;RUN=1;SAF=108;SAP=32.1802;SAR=169;SF=12;SRF=131;SRP=40.9886;SRR=208;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-705.826,0,-867.074:617:339:277:10279:12169:339,277 . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179396354 . G A 7750.46 . AB=0.52071;ABP=4.2695;AC=6;AF=0.5;AN=10;AO=176;CIGAR=1X;DP=2355;DPB=338;DPRA=0;EPP=10.1169;EPPR=10.7311;GTI=0;LEN=1;MEANALT=1;MQM=41.7727;MQMR=41.9753;NS=1;NUMALT=1;ODDS=938.473;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6568;QR=5984;RO=162;RPL=79;RPP=7.00778;RPPR=5.63751;RPR=97;RUN=1;SAF=87;SAP=3.05965;SAR=89;SF=9,12,16,20,25;SRF=77;SRP=3.86817;SRR=85;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-466.054,0,-415.79:338:162:176:6568:5984:162,176 . . 1/1:-1434.86,-132.459,0:445:1:444:16668:15:1,444 . . . 0/1:-404.326,0,-600.379:380:219:161:6020:8273:219,161 . . . 0/1:-693.924,0,-637.129:502:243:259:9788:9145:243,259 . . . . 0/1:-920.198,0,-874.498:690:336:352:13057:12513:336,352 . . . . . . . . . . . +chr2 179397150 . T C 1216.38 . AB=0.279352;ABP=107.461;AC=1;AF=0.5;AN=2;AO=69;CIGAR=1X;DP=247;DPB=247;DPRA=0;EPP=10.0912;EPPR=10.6779;GTI=0;LEN=1;MEANALT=2;MQM=41.971;MQMR=41.9661;NS=1;NUMALT=1;ODDS=280.082;PAIRED=0;PAIREDR=0.00564972;PAO=0;PQA=0;PQR=0;PRO=0;QA=2468;QR=6417;RO=177;RPL=39;RPP=5.55942;RPPR=14.8;RPR=30;RUN=1;SAF=29;SAP=6.81824;SAR=40;SF=21;SRF=81;SRP=5.77065;SRR=96;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon186:c.A76997G:p.Y25666C,TTN:NM_133432:exon187:c.A77372G:p.Y25791C,TTN:NM_133437:exon187:c.A77573G:p.Y25858C,TTN:NM_133378:exon307:c.A96488G:p.Y32163C,TTN:NM_001256850:exon308:c.A99269G:p.Y33090C,TTN:NM_001267550:exon358:c.A104192G:p.Y34731C;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517789;CLNALLELEID=56830;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;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=0.997;Polyphen2_HVAR_rankscore=0.850;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;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=-0.22;FATHMM_converted_rankscore=0.665;FATHMM_pred=T;PROVEAN_score=-5.49;PROVEAN_converted_rankscore=0.860;PROVEAN_pred=D;VEST3_score=0.49;VEST3_rankscore=0.730;MetaSVM_score=-0.309;MetaSVM_rankscore=0.747;MetaSVM_pred=T;MetaLR_score=0.320;MetaLR_rankscore=0.690;MetaLR_pred=T;M-CAP_score=0.033;M-CAP_rankscore=0.545;M-CAP_pred=D;REVEL_score=0.361;REVEL_rankscore=0.685;MutPred_score=0.322;MutPred_rankscore=0.303;CADD_raw=2.595;CADD_raw_rankscore=0.373;CADD_phred=20.2;DANN_score=0.969;DANN_rankscore=0.310;fathmm-MKL_coding_score=0.964;fathmm-MKL_coding_rankscore=0.690;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.586;Eigen-PC-raw=0.646;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.581;integrated_fitCons_score_rankscore=0.330;integrated_confidence_value=0;GERP++_RS=5.93;GERP++_RS_rankscore=0.959;phyloP100way_vertebrate=7.994;phyloP100way_vertebrate_rankscore=0.879;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=16.049;SiPhy_29way_logOdds_rankscore=0.805;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=.;ExAC_nontcga_ALL=3.789e-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=0.0002;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=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\x3d99.067966;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-139.93,0,-482.695:247:177:69:2468:6417:177,69 . . . . . . . . . . . . . . . +chr2 179397561 . C T 7810.92 . AB=0.558897;ABP=15.0323;AC=6;AF=0.5;AN=10;AO=223;CIGAR=1X;DP=2569;DPB=399;DPRA=0;EPP=3.79904;EPPR=4.52908;GTI=0;LEN=1;MEANALT=2;MQM=41.6771;MQMR=41.9884;NS=1;NUMALT=1;ODDS=948.327;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8130;QR=6310;RO=173;RPL=79;RPP=44.1514;RPPR=59.3556;RPR=144;RUN=1;SAF=125;SAP=10.109;SAR=98;SF=9,12,16,20,25;SRF=107;SRP=24.11;SRR=66;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-581.884,0,-428.293:399:173:223:8130:6310:173,223 . . 1/1:-1599.42,-151.274,0:510:1:506:18588:15:1,506 . . . 0/1:-349.939,0,-694.184:411:259:150:5477:9422:259,150 . . . 0/1:-671.689,0,-811.384:577:308:264:9748:11345:308,264 . . . . 0/1:-792.682,0,-880.063:672:352:317:11502:12479:352,317 . . . . . . . . . . . +chr2 179398509 . C A 5024.02 . AB=0.448837;ABP=12.787;AC=2;AF=0.5;AN=4;AO=193;CIGAR=1X;DP=827;DPB=430;DPRA=0;EPP=3.29158;EPPR=5.07182;GTI=0;LEN=1;MEANALT=1;MQM=41.8135;MQMR=41.6751;NS=1;NUMALT=1;ODDS=1096.09;PAIRED=1;PAIREDR=0.991561;PAO=0;PQA=0;PQR=0;PRO=0;QA=7192;QR=8761;RO=237;RPL=60;RPP=62.9677;RPPR=124.182;RPR=133;RUN=1;SAF=102;SAP=4.37169;SAR=91;SF=5,10;SRF=130;SRP=7.85717;SRR=107;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-490.419,0,-626.557:430:237:193:7192:8761:237,193 . . . . 0/1:-539.331,0,-508.384:397:195:201:7644:7263:195,201 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179398823 . G A 6072.02 . AB=0.58427;ABP=19.4793;AC=6;AF=0.5;AN=10;AO=156;CIGAR=1X;DP=1828;DPB=267;DPRA=0;EPP=8.57818;EPPR=10.0725;GTI=0;LEN=1;MEANALT=1;MQM=41.9872;MQMR=41.1892;NS=1;NUMALT=1;ODDS=578.378;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5611;QR=3961;RO=111;RPL=89;RPP=9.74743;RPPR=10.0725;RPR=67;RUN=1;SAF=81;SAP=3.51141;SAR=75;SF=9,12,16,20,25;SRF=60;SRP=4.59489;SRR=51;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-407.245,0,-261.076:267:111:156:5611:3961:111,156 . . 1/1:-1179.86,-113.488,0:380:0:377:13595:0:0,377 . . . 0/1:-389.251,0,-417.838:314:161:152:5576:5915:161,152 . . . 0/1:-429.118,0,-433.655:337:167:169:6101:6174:167,169 . . . . 0/1:-680.463,0,-656.459:530:258:270:9667:9408:258,270 . . . . . . . . . . . +chr2 179399576 . C G 7623.47 . AB=0.443089;ABP=9.93076;AC=3;AF=0.5;AN=4;AO=109;CIGAR=1X;DP=664;DPB=246;DPRA=0;EPP=13.5489;EPPR=32.3173;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.8613;NS=1;NUMALT=1;ODDS=597.876;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3948;QR=5069;RO=137;RPL=45;RPP=10.2021;RPPR=3.78696;RPR=64;RUN=1;SAF=53;SAP=3.1896;SAR=56;SF=10,27;SRF=67;SRP=3.15295;SRR=70;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-268.778,0,-363.829:246:137:109:3948:5069:137,109 . . . . . . . . . . . . . . . . 1/1:-1284.64,-124.331,0:418:1:417:14897:15:1,417 . . . . . . . . . +chr2 179400585 . GAAAAAAAAAAAAAAAGAATATAATTTAG GAAAAAAAAAAAAAAGAATATAATTTAG 134.69 . AB=0.137931;ABP=168.117;AC=9;AF=0.5;AN=18;AO=20;CIGAR=1M1D27M;DP=1498;DPB=144.138;DPRA=0;EPP=4.74748;EPPR=40.9736;GTI=0;LEN=1;MEANALT=19;MQM=40.1;MQMR=39.7241;NS=1;NUMALT=1;ODDS=5.56935;PAIRED=0.9;PAIREDR=0.91954;PAO=1;PQA=31.6667;PQR=31.6667;PRO=1;QA=642;QR=3130;RO=87;RPL=18;RPP=30.8051;RPPR=53.5532;RPR=2;RUN=1;SAF=10;SAP=3.0103;SAR=10;SF=3,5,9,10,12,16,20,24,25;SRF=37;SRP=7.22845;SRR=50;TYPE=del;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=rs749872538;CLNALLELEID=286102;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|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:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;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=0.3003;ExAC_nontcga_AFR=0.2912;ExAC_nontcga_AMR=0.2866;ExAC_nontcga_EAS=0.2643;ExAC_nontcga_FIN=0.3470;ExAC_nontcga_NFE=0.2939;ExAC_nontcga_OTH=0.3451;ExAC_nontcga_SAS=0.3033;AF=0.0130;AF_popmax=0.0559;AF_male=0.0133;AF_female=0.0125;AF_raw=0.0167;AF_afr=0.0080;AF_sas=.;AF_amr=0.0559;AF_eas=0.0018;AF_nfe=0.0062;AF_fin=0.1338;AF_asj=0.0169;AF_oth=0.0295;non_topmed_AF_popmax=0.0599;non_neuro_AF_popmax=0.0458;non_cancer_AF_popmax=.;controls_AF_popmax=0.1375;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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-20.6664,0,-226.874:145:87:20:642:3130:87,20 . 0/1:-46.4363,0,-267.01:182:101:32:985:3615:101,32 . . . 0/1:-16.7781,0,-157.558:125:59:16:469:2079:59,16 0/1:-19.4426,0,-179.97:126:70:19:546:2509:70,19 . 0/1:-28.173,0,-316.109:194:117:25:834:4130:117,25 . . . 0/1:-16.8365,0,-233.116:152:85:20:579:3054:85,20 . . . 0/1:-21.7518,0,-275.292:196:102:24:737:3659:102,24 . . . 0/1:-30.5994,0,-106.346:85:42:20:607:1488:42,20 0/1:-73.1817,0,-437.292:293:164:49:1635:5855:164,49 . . . . . . . . . . . +chr2 179400895 . C T 1988.21 . AB=0.475904;ABP=3.84749;AC=1;AF=0.5;AN=2;AO=79;CIGAR=1X;DP=166;DPB=166;DPRA=0;EPP=3.03779;EPPR=3.91929;GTI=0;LEN=1;MEANALT=2;MQM=41.5443;MQMR=41.5814;NS=1;NUMALT=1;ODDS=457.803;PAIRED=1;PAIREDR=0.976744;PAO=0;PQA=0;PQR=0;PRO=0;QA=2977;QR=3137;RO=86;RPL=47;RPP=9.19487;RPPR=3.41429;RPR=32;RUN=1;SAF=33;SAP=7.6556;SAR=46;SF=5;SRF=37;SRP=6.64625;SRR=49;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-206.315,0,-221.523:166:86:79:2977:3137:86,79 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179401311 . CAAAAAAAAGATT CAAAAAAAAAGATT 734.86 . AB=0.52459;ABP=3.33068;AC=1;AF=0.5;AN=2;AO=32;CIGAR=1M1I12M;DP=61;DPB=63.5385;DPRA=0;EPP=12.7819;EPPR=19.3799;GTI=0;LEN=1;MEANALT=4;MQM=42;MQMR=41.9231;NS=1;NUMALT=1;ODDS=127.536;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1133;QR=936;RO=26;RPL=22;RPP=12.7819;RPPR=19.3799;RPR=10;RUN=1;SAF=18;SAP=4.09604;SAR=14;SF=9;SRF=14;SRP=3.34437;SRR=12;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-81.207,0,-64.2736:61:26:32:1133:936:26,32 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179401870 . C A 3294.20 . AB=0.498141;ABP=3.01837;AC=1;AF=0.5;AN=2;AO=134;CIGAR=1X;DP=269;DPB=269;DPRA=0;EPP=53.8292;EPPR=51.6674;GTI=0;LEN=1;MEANALT=1;MQM=41.8507;MQMR=42;NS=1;NUMALT=1;ODDS=758.518;PAIRED=1;PAIREDR=0.992593;PAO=0;PQA=0;PQR=0;PRO=0;QA=4958;QR=5039;RO=135;RPL=90;RPP=37.3001;RPPR=75.2158;RPR=44;RUN=1;SAF=47;SAP=28.9383;SAR=87;SF=9;SRF=40;SRP=51.6674;SRR=95;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon184:c.G72771T:p.W24257C,TTN:NM_133432:exon185:c.G73146T:p.W24382C,TTN:NM_133437:exon185:c.G73347T:p.W24449C,TTN:NM_133378:exon305:c.G92262T:p.W30754C,TTN:NM_001256850:exon306:c.G95043T:p.W31681C,TTN:NM_001267550:exon356:c.G99966T:p.W33322C;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs775769503;CLNALLELEID=283930;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|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:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.044;SIFT_converted_rankscore=0.524;SIFT_pred=D;Polyphen2_HDIV_score=0.958;Polyphen2_HDIV_rankscore=0.530;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.67;Polyphen2_HVAR_rankscore=0.513;Polyphen2_HVAR_pred=P;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=-0.345;MutationAssessor_score_rankscore=0.033;MutationAssessor_pred=N;FATHMM_score=0.44;FATHMM_converted_rankscore=0.566;FATHMM_pred=T;PROVEAN_score=-6.64;PROVEAN_converted_rankscore=0.925;PROVEAN_pred=D;VEST3_score=0.563;VEST3_rankscore=0.596;MetaSVM_score=-0.839;MetaSVM_rankscore=0.528;MetaSVM_pred=T;MetaLR_score=0.115;MetaLR_rankscore=0.408;MetaLR_pred=T;M-CAP_score=0.029;M-CAP_rankscore=0.517;M-CAP_pred=D;REVEL_score=0.271;REVEL_rankscore=0.591;MutPred_score=0.571;MutPred_rankscore=0.695;CADD_raw=3.357;CADD_raw_rankscore=0.462;CADD_phred=22.9;DANN_score=0.956;DANN_rankscore=0.268;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_rankscore=0.591;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.336;Eigen-PC-raw=0.448;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=5.65;GERP++_RS_rankscore=0.868;phyloP100way_vertebrate=3.046;phyloP100way_vertebrate_rankscore=0.493;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=13.943;SiPhy_29way_logOdds_rankscore=0.634;Interpro_domain=Fibronectin_type_III\x3bFibronectin_type_III|Immunoglobulin_I-set|Immunoglobulin_subtype|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=4.841e-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=0.0003;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d97.728218;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-347.507,0,-355.45:269:135:134:4958:5039:135,134 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179404402 . T C 5604.02 . AB=0.485537;ABP=3.88966;AC=2;AF=0.5;AN=4;AO=235;CIGAR=1X;DP=913;DPB=484;DPRA=0;EPP=18.5433;EPPR=10.3445;GTI=0;LEN=1;MEANALT=1;MQM=41.9149;MQMR=41.9197;NS=1;NUMALT=1;ODDS=1350.09;PAIRED=0.995745;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8611;QR=9178;RO=249;RPL=90;RPP=30.9622;RPPR=17.6699;RPR=145;RUN=1;SAF=140;SAP=21.7219;SAR=95;SF=12,20;SRF=149;SRP=23.9489;SRR=100;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-599.954,0,-649.36:484:249:235:8611:9178:249,235 . . . . . . . 0/1:-543.344,0,-568.407:429:218:211:7794:8058:218,211 . . . . . . . . . . . . . . . . +chr2 179404628 . T A 1307.63 . AB=0.482759;ABP=3.30981;AC=1;AF=0.5;AN=2;AO=56;CIGAR=1X;DP=116;DPB=116;DPRA=0;EPP=15.5738;EPPR=8.40154;GTI=0;LEN=1;MEANALT=2;MQM=41.9643;MQMR=41.6034;NS=1;NUMALT=1;ODDS=301.093;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1988;QR=2118;RO=58;RPL=29;RPP=3.16541;RPPR=24.5753;RPR=27;RUN=1;SAF=34;SAP=8.59409;SAR=22;SF=5;SRF=26;SRP=4.35811;SRR=32;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-138.644,0,-148.732:116:58:56:1988:2118:58,56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179404786 . A T 3301.10 . AB=0.541353;ABP=4.98585;AC=6;AF=0.5;AN=10;AO=72;CIGAR=1X;DP=1014;DPB=133;DPRA=0;EPP=15.074;EPPR=18.709;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.4098;NS=1;NUMALT=1;ODDS=322.944;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2693;QR=2262;RO=61;RPL=17;RPP=46.5604;RPPR=62.8504;RPR=55;RUN=1;SAF=33;SAP=4.09604;SAR=39;SF=9,12,16,20,25;SRF=30;SRP=3.0459;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-193.031,0,-154.582:133:61:72:2693:2262:61,72 . . 1/1:-686.316,-63.6508,0:217:1:215:7979:16:1,215 . . . 0/1:-264.638,0,-266.538:200:99:101:3777:3781:99,101 . . . 0/1:-276.67,0,-213.567:185:82:101:3843:3114:82,101 . . . . 0/1:-322.933,0,-392.239:279:150:129:4700:5517:150,129 . . . . . . . . . . . +chr2 179406003 . C A 1174.55 . AB=0.522222;ABP=3.39634;AC=8;AF=0.5;AN=14;AO=47;CIGAR=1X;DP=569;DPB=90;DPRA=0;EPP=4.16534;EPPR=3.46479;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=233.898;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1726;QR=1602;RO=43;RPL=12;RPP=27.4509;RPPR=14.3727;RPR=35;RUN=1;SAF=33;SAP=19.6891;SAR=14;SF=5,9,10,12,16,20,25;SRF=34;SRP=34.5724;SRR=9;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-122.748,0,-111.9:90:43:47:1726:1602:43,47 . . . 0/1:-86.5165,0,-78.5798:64:30:34:1211:1129:30,34 0/1:-67.0132,0,-92.6396:62:34:28:979:1282:34,28 . 1/1:-301.781,-28.2968,0:94:0:94:3500:0:0,94 . . . 0/1:-81.9805,0,-110.291:75:41:34:1201:1532:41,34 . . . 0/1:-98.5269,0,-129.837:88:49:39:1439:1804:49,39 . . . . 0/1:-136.761,0,-112.189:96:44:52:1910:1626:44,52 . . . . . . . . . . . +chr2 179406191 . C T 7770.33 . AB=0.440729;ABP=13.0492;AC=6;AF=0.5;AN=10;AO=145;CIGAR=1X;DP=2346;DPB=329;DPRA=0;EPP=3.74411;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.8345;MQMR=41.8533;NS=1;NUMALT=1;ODDS=814;PAIRED=0.993103;PAIREDR=0.98913;PAO=0;PQA=0;PQR=0;PRO=0;QA=5354;QR=6768;RO=184;RPL=86;RPP=13.9276;RPPR=9.80795;RPR=59;RUN=1;SAF=65;SAP=6.37983;SAR=80;SF=9,12,16,20,25;SRF=94;SRP=3.19912;SRR=90;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-362.913,0,-488.039:329:184:145:5354:6768:184,145 . . 1/1:-1784.86,-167.975,0:559:0:558:20690:0:0,558 . . . 0/1:-469.529,0,-604.946:413:226:186:6863:8429:226,186 . . . 0/1:-657.133,0,-663.189:506:255:251:9360:9408:255,251 . . . . 0/1:-667.012,0,-712.86:539:282:257:9594:10114:282,257 . . . . . . . . . . . +chr2 179410548 . G T 3214.04 . AB=0.557522;ABP=9.5055;AC=1;AF=0.5;AN=2;AO=126;CIGAR=1X;DP=226;DPB=226;DPRA=0;EPP=7.42218;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.9683;MQMR=41.82;NS=1;NUMALT=1;ODDS=564.318;PAIRED=0.992063;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4679;QR=3779;RO=100;RPL=31;RPP=73.6004;RPPR=53.041;RPR=95;RUN=1;SAF=66;SAP=3.63072;SAR=60;SF=6;SRF=50;SRP=3.0103;SRR=50;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon171:c.C68220A:p.F22740L,TTN:NM_133432:exon172:c.C68595A:p.F22865L,TTN:NM_133437:exon172:c.C68796A:p.F22932L,TTN:NM_133378:exon292:c.C87711A:p.F29237L,TTN:NM_001256850:exon293:c.C90492A:p.F30164L,TTN:NM_001267550:exon343:c.C95415A:p.F31805L;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs587780983;CLNALLELEID=141516;CLNDN=Primary_familial_hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|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=0.012;SIFT_converted_rankscore=0.546;SIFT_pred=D;Polyphen2_HDIV_score=0.824;Polyphen2_HDIV_rankscore=0.439;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=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.525;MutationAssessor_score_rankscore=0.387;MutationAssessor_pred=L;FATHMM_score=-0.01;FATHMM_converted_rankscore=0.628;FATHMM_pred=T;PROVEAN_score=-4.13;PROVEAN_converted_rankscore=0.824;PROVEAN_pred=D;VEST3_score=0.29;VEST3_rankscore=0.449;MetaSVM_score=-0.600;MetaSVM_rankscore=0.649;MetaSVM_pred=T;MetaLR_score=0.214;MetaLR_rankscore=0.575;MetaLR_pred=T;M-CAP_score=0.123;M-CAP_rankscore=0.805;M-CAP_pred=D;REVEL_score=0.379;REVEL_rankscore=0.700;MutPred_score=0.253;MutPred_rankscore=0.193;CADD_raw=3.591;CADD_raw_rankscore=0.489;CADD_phred=23.2;DANN_score=0.911;DANN_rankscore=0.198;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.948;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.591;Eigen-PC-raw=0.688;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=5.82;GERP++_RS_rankscore=0.927;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=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=0.9744;dbscSNV_RF_SCORE=0.666;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.724e-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=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\x3d98.595255;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-336.61,0,-257.46:226:100:126:4679:3779:100,126 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179410704 . G A 10291.20 . AB=0.479951;ABP=5.88361;AC=1;AF=0.5;AN=2;AO=395;CIGAR=1X;DP=823;DPB=823;DPRA=0;EPP=6.44617;EPPR=4.15452;GTI=0;LEN=1;MEANALT=2;MQM=41.9418;MQMR=41.9555;NS=1;NUMALT=1;ODDS=2369.64;PAIRED=0.997468;PAIREDR=0.997658;PAO=0;PQA=0;PQR=0;PRO=0;QA=14933;QR=15692;RO=427;RPL=157;RPP=39.0787;RPPR=48.9062;RPR=238;RUN=1;SAF=214;SAP=8.99697;SAR=181;SF=25;SRF=228;SRP=7.28713;SRR=199;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-1041.7,0,-1109.34:823:427:395:14933:15692:427,395 . . . . . . . . . . . +chr2 179412442 . A G 3404.00 . AB=0.456026;ABP=8.16666;AC=1;AF=0.5;AN=2;AO=140;CIGAR=1X;DP=307;DPB=307;DPRA=0;EPP=35.8306;EPPR=34.6085;GTI=0;LEN=1;MEANALT=2;MQM=41.6143;MQMR=41.7576;NS=1;NUMALT=1;ODDS=783.799;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5110;QR=6214;RO=165;RPL=64;RPP=5.24381;RPPR=3.33931;RPR=76;RUN=1;SAF=73;SAP=3.56868;SAR=67;SF=16;SRF=88;SRP=4.60271;SRR=77;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.T66716C:p.V22239A,TTN:NM_133432:exon168:c.T67091C:p.V22364A,TTN:NM_133437:exon168:c.T67292C:p.V22431A,TTN:NM_133378:exon288:c.T86207C:p.V28736A,TTN:NM_001256850:exon289:c.T88988C:p.V29663A,TTN:NM_001267550:exon339:c.T93911C:p.V31304A;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.785;SIFT_converted_rankscore=0.093;SIFT_pred=T;Polyphen2_HDIV_score=0.006;Polyphen2_HDIV_rankscore=0.126;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=0.991;MutationTaster_converted_rankscore=0.240;MutationTaster_pred=N;MutationAssessor_score=0.615;MutationAssessor_score_rankscore=0.157;MutationAssessor_pred=N;FATHMM_score=-0.16;FATHMM_converted_rankscore=0.654;FATHMM_pred=T;PROVEAN_score=-2.57;PROVEAN_converted_rankscore=0.590;PROVEAN_pred=D;VEST3_score=0.223;VEST3_rankscore=0.355;MetaSVM_score=-0.978;MetaSVM_rankscore=0.356;MetaSVM_pred=T;MetaLR_score=0.117;MetaLR_rankscore=0.412;MetaLR_pred=T;M-CAP_score=0.023;M-CAP_rankscore=0.462;M-CAP_pred=T;REVEL_score=0.098;REVEL_rankscore=0.287;MutPred_score=0.406;MutPred_rankscore=0.440;CADD_raw=1.832;CADD_raw_rankscore=0.281;CADD_phred=15.18;DANN_score=0.818;DANN_rankscore=0.134;fathmm-MKL_coding_score=0.882;fathmm-MKL_coding_rankscore=0.477;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.156;Eigen-PC-raw=0.096;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.348;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=5.92;GERP++_RS_rankscore=0.955;phyloP100way_vertebrate=2.301;phyloP100way_vertebrate_rankscore=0.430;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=0.989;phastCons100way_vertebrate_rankscore=0.365;phastCons20way_mammalian=0.999;phastCons20way_mammalian_rankscore=0.750;SiPhy_29way_logOdds=10.657;SiPhy_29way_logOdds_rankscore=0.447;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=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d98.890625;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-351.297,0,-445.158:307:165:140:5110:6214:165,140 . . . . . . . . . . . . . . . . . . . . +chr2 179412772 . T C 2930.08 . AB=0.485477;ABP=3.4518;AC=1;AF=0.5;AN=2;AO=117;CIGAR=1X;DP=241;DPB=241;DPRA=0;EPP=8.37402;EPPR=23.254;GTI=0;LEN=1;MEANALT=1;MQM=41.6496;MQMR=41.9677;NS=1;NUMALT=1;ODDS=674.677;PAIRED=0.991453;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=4358;QR=4557;RO=124;RPL=49;RPP=9.71031;RPPR=4.76149;RPR=68;RUN=1;SAF=74;SAP=20.8461;SAR=43;SF=9;SRF=70;SRP=7.49334;SRR=54;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon167:c.A66386G:p.Y22129C,TTN:NM_133432:exon168:c.A66761G:p.Y22254C,TTN:NM_133437:exon168:c.A66962G:p.Y22321C,TTN:NM_133378:exon288:c.A85877G:p.Y28626C,TTN:NM_001256850:exon289:c.A88658G:p.Y29553C,TTN:NM_001267550:exon339:c.A93581G:p.Y31194C;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs543223589;CLNALLELEID=391563;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=0.112;SIFT_converted_rankscore=0.337;SIFT_pred=T;Polyphen2_HDIV_score=0.015;Polyphen2_HDIV_rankscore=0.158;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=0.953;MutationTaster_converted_rankscore=0.409;MutationTaster_pred=D;MutationAssessor_score=0.85;MutationAssessor_score_rankscore=0.213;MutationAssessor_pred=L;FATHMM_score=0.61;FATHMM_converted_rankscore=0.535;FATHMM_pred=T;PROVEAN_score=-5.67;PROVEAN_converted_rankscore=0.877;PROVEAN_pred=D;VEST3_score=0.483;VEST3_rankscore=0.556;MetaSVM_score=-1.014;MetaSVM_rankscore=0.256;MetaSVM_pred=T;MetaLR_score=0.095;MetaLR_rankscore=0.358;MetaLR_pred=T;M-CAP_score=0.025;M-CAP_rankscore=0.482;M-CAP_pred=D;REVEL_score=0.235;REVEL_rankscore=0.542;MutPred_score=0.36;MutPred_rankscore=0.365;CADD_raw=1.276;CADD_raw_rankscore=0.218;CADD_phred=12.15;DANN_score=0.919;DANN_rankscore=0.207;fathmm-MKL_coding_score=0.948;fathmm-MKL_coding_rankscore=0.622;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.264;Eigen-PC-raw=-0.078;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.356;integrated_fitCons_score=0.563;integrated_fitCons_score_rankscore=0.310;integrated_confidence_value=0;GERP++_RS=4.5;GERP++_RS_rankscore=0.542;phyloP100way_vertebrate=6.086;phyloP100way_vertebrate_rankscore=0.708;phyloP20way_mammalian=0.148;phyloP20way_mammalian_rankscore=0.236;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.948;phastCons20way_mammalian_rankscore=0.423;SiPhy_29way_logOdds=11.484;SiPhy_29way_logOdds_rankscore=0.494;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=4.742e-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=3.185e-05;AF_popmax=0.0001;AF_male=0;AF_female=7.183e-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=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\x3d98.593507;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-302.731,0,-322.536:241:124:117:4358:4557:124,117 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179412966 . G A 4172.30 . AB=0.547945;ABP=8.84055;AC=1;AF=0.5;AN=2;AO=160;CIGAR=1X;DP=292;DPB=292;DPRA=0;EPP=10.8276;EPPR=14.1309;GTI=0;LEN=1;MEANALT=1;MQM=41.6;MQMR=42;NS=1;NUMALT=1;ODDS=762.652;PAIRED=0.9625;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5966;QR=4945;RO=132;RPL=85;RPP=4.36747;RPPR=14.1309;RPR=75;RUN=1;SAF=79;SAP=3.06459;SAR=81;SF=9;SRF=66;SRP=3.0103;SRR=66;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-425.666,0,-340.828:292:132:160:5966:4945:132,160 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179413110 . G A 11753.85 . AB=0.480634;ABP=4.86064;AC=6;AF=0.5;AN=10;AO=273;CIGAR=1X;DP=3578;DPB=568;DPRA=0;EPP=23.6989;EPPR=3.01771;GTI=0;LEN=1;MEANALT=2;MQM=41.8462;MQMR=41.9795;NS=1;NUMALT=1;ODDS=1578.29;PAIRED=0.996337;PAIREDR=0.996587;PAO=0;PQA=0;PQR=0;PRO=0;QA=10127;QR=10620;RO=293;RPL=88;RPP=77.8505;RPPR=38.2949;RPR=185;RUN=1;SAF=164;SAP=27.0715;SAR=109;SF=9,12,16,20,25;SRF=172;SRP=22.2867;SRR=121;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-705.127,0,-750.445:568:293:273:10127:10620:293,273 . . 1/1:-2528.96,-233.789,0:789:1:788:29391:39:1,788 . . . 0/1:-756.434,0,-776.637:588:298:290:10810:11016:298,290 . . . 0/1:-911.27,0,-936.863:709:360:346:13026:13327:360,346 . . . . 0/1:-1074.37,0,-1315.25:924:504:420:15637:18392:504,420 . . . . . . . . . . . +chr2 179413452 . G A 4479.94 . AB=0.514045;ABP=3.62026;AC=1;AF=0.5;AN=2;AO=183;CIGAR=1X;DP=356;DPB=356;DPRA=0;EPP=8.24319;EPPR=4.52908;GTI=0;LEN=1;MEANALT=1;MQM=41.4098;MQMR=41.896;NS=1;NUMALT=1;ODDS=990.454;PAIRED=0.989071;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6616;QR=6308;RO=173;RPL=115;RPP=29.2222;RPPR=24.11;RPR=68;RUN=1;SAF=77;SAP=12.9896;SAR=106;SF=6;SRF=79;SRP=5.83447;SRR=94;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-459.273,0,-439.787:356:173:183:6616:6308:173,183 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179421694 . A G 6540.89 . AB=0.473171;ABP=5.5737;AC=9;AF=0.5;AN=16;AO=194;CIGAR=1X;DP=3427;DPB=410;DPRA=0;EPP=15.9496;EPPR=13.3047;GTI=0;LEN=1;MEANALT=1;MQM=41.8041;MQMR=42;NS=1;NUMALT=1;ODDS=1112.4;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7140;QR=8042;RO=216;RPL=114;RPP=15.9496;RPPR=5.5839;RPR=80;RUN=1;SAF=100;SAP=3.41325;SAR=94;SF=5,9,10,12,16,20,25,27;SRF=114;SRP=4.45795;SRR=102;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-493.125,0,-571.307:410:216:194:7140:8042:216,194 . . . 0/1:-398.611,0,-372.124:296:143:151:5633:5357:143,151 0/1:-406.59,0,-464.926:329:173:156:5860:6533:173,156 . 1/1:-1625.35,-142.977,0:508:3:505:18933:110:3,505 . . . 0/1:-501.013,0,-529.859:389:200:189:7166:7493:200,189 . . . 0/1:-647.154,0,-584.341:467:223:244:9116:8423:223,244 . . . . 0/1:-677.632,0,-850.215:585:318:266:9874:11867:318,266 . 0/1:-559.202,0,-592.806:443:227:215:8011:8394:227,215 . . . . . . . . . +chr2 179423099 . A G 2915.54 . AB=0.43554;ABP=13.3683;AC=1;AF=0.5;AN=2;AO=125;CIGAR=1X;DP=287;DPB=287;DPRA=0;EPP=9.28151;EPPR=7.35324;GTI=0;LEN=1;MEANALT=1;MQM=41.968;MQMR=41.537;NS=1;NUMALT=1;ODDS=671.329;PAIRED=1;PAIREDR=0.987654;PAO=0;PQA=0;PQR=0;PRO=0;QA=4483;QR=5933;RO=162;RPL=43;RPP=29.4328;RPPR=18.5055;RPR=82;RUN=1;SAF=75;SAP=13.8677;SAR=50;SF=27;SRF=84;SRP=3.49285;SRR=78;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-302.829,0,-424.948:287:162:125:4483:5933:162,125 . . . . . . . . . +chr2 179424600 . T C 3674.35 . AB=0.453704;ABP=9.04217;AC=1;AF=0.5;AN=2;AO=147;CIGAR=1X;DP=324;DPB=324;DPRA=0;EPP=8.34296;EPPR=30.1108;GTI=0;LEN=1;MEANALT=1;MQM=41.8503;MQMR=41.9887;NS=1;NUMALT=1;ODDS=846.051;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5504;QR=6644;RO=177;RPL=93;RPP=25.4784;RPPR=45.7159;RPR=54;RUN=1;SAF=75;SAP=3.14325;SAR=72;SF=9;SRF=85;SRP=3.61144;SRR=92;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon154:c.A59064G:p.L19688L,TTN:NM_133432:exon155:c.A59439G:p.L19813L,TTN:NM_133437:exon155:c.A59640G:p.L19880L,TTN:NM_133378:exon275:c.A78555G:p.L26185L,TTN:NM_001256850:exon276:c.A81336G:p.L27112L,TTN:NM_001267550:exon326:c.A86259G:p.L28753L;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs886055233;CLNALLELEID=285776;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|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:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.032152;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-377.741,0,-476.567:324:177:147:5504:6644:177,147 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179427186 . A G 6094.05 . AB=0.446429;ABP=12.7819;AC=9;AF=0.5;AN=16;AO=175;CIGAR=1X;DP=3301;DPB=392;DPRA=0;EPP=5.80219;EPPR=3.17115;GTI=0;LEN=1;MEANALT=2;MQM=41.8286;MQMR=41.7315;NS=1;NUMALT=1;ODDS=979.235;PAIRED=1;PAIREDR=0.990741;PAO=0;PQA=0;PQR=0;PRO=0;QA=6390;QR=7796;RO=216;RPL=110;RPP=28.1373;RPPR=12.0581;RPR=65;RUN=1;SAF=81;SAP=5.10732;SAR=94;SF=5,9,10,12,16,20,25,27;SRF=109;SRP=3.05051;SRR=107;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-436.277,0,-555.444:392:216:175:6390:7796:216,175 . . . 0/1:-316.461,0,-357.563:266:140:125:4574:5041:140,125 0/1:-330.169,0,-446.241:299:169:130:4845:6227:169,130 . 1/1:-1544.49,-142.372,0:496:2:494:17910:76:2,494 . . . 0/1:-479.053,0,-400.353:336:155:181:6706:5797:155,181 . . . 0/1:-524.737,0,-490.231:395:188:206:7428:7059:188,206 . . . . 0/1:-718.97,0,-795.404:598:312:286:10372:11261:312,286 . 0/1:-594.788,0,-661.739:519:268:246:8624:9428:268,246 . . . . . . . . . +chr2 179427536 . T C 4658.18 . AB=0.469388;ABP=5.40335;AC=9;AF=0.5;AN=16;AO=138;CIGAR=1X;DP=2548;DPB=294;DPRA=0;EPP=15.3468;EPPR=5.73856;GTI=0;LEN=1;MEANALT=1;MQM=41.971;MQMR=41.7628;NS=1;NUMALT=1;ODDS=788.398;PAIRED=0.992754;PAIREDR=0.987179;PAO=0;PQA=0;PQR=0;PRO=0;QA=5121;QR=5703;RO=156;RPL=43;RPP=45.5586;RPPR=75.17;RPR=95;RUN=1;SAF=72;SAP=3.57677;SAR=66;SF=5,9,10,12,16,20,25,27;SRF=87;SRP=7.52028;SRR=69;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-355.093,0,-402.658:294:156:138:5121:5703:156,138 . . . 0/1:-325.16,0,-295.201:239:113:125:4577:4247:113,125 0/1:-356.175,0,-262.449:233:102:131:4921:3877:102,131 . 1/1:-1057.98,-101.146,0:337:0:336:12269:0:0,336 . . . 0/1:-288.368,0,-369.791:251:136:113:4195:5151:136,113 . . . 0/1:-409.176,0,-422.175:316:158:157:5821:6002:158,157 . . . . 0/1:-530.838,0,-615.024:446:234:212:7672:8682:234,212 . 0/1:-497.372,0,-612.874:432:234:198:7225:8589:234,198 . . . . . . . . . +chr2 179429004 . G A 3828.94 . AB=0.459941;ABP=7.70764;AC=1;AF=0.5;AN=2;AO=155;CIGAR=1X;DP=337;DPB=337;DPRA=0;EPP=24.3187;EPPR=9.88265;GTI=0;LEN=1;MEANALT=1;MQM=41.8839;MQMR=41.8626;NS=1;NUMALT=1;ODDS=881.646;PAIRED=1;PAIREDR=0.989011;PAO=0;PQA=0;PQR=0;PRO=0;QA=5752;QR=6589;RO=182;RPL=56;RPP=28.9139;RPPR=32.8382;RPR=99;RUN=1;SAF=63;SAP=14.7923;SAR=92;SF=27;SRF=85;SRP=4.72839;SRR=97;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-395.328,0,-470.732:337:182:155:5752:6589:182,155 . . . . . . . . . +chr2 179430060 . G T 4402.65 . AB=0.452685;ABP=10.6132;AC=1;AF=0.5;AN=2;AO=177;CIGAR=1X;DP=391;DPB=391;DPRA=0;EPP=3.31701;EPPR=4.47148;GTI=0;LEN=1;MEANALT=1;MQM=41.9774;MQMR=41.8178;NS=1;NUMALT=1;ODDS=1013.75;PAIRED=0.99435;PAIREDR=0.990654;PAO=0;PQA=0;PQR=0;PRO=0;QA=6558;QR=7987;RO=214;RPL=108;RPP=21.6702;RPPR=4.99913;RPR=69;RUN=1;SAF=75;SAP=11.9538;SAR=102;SF=27;SRF=93;SRP=10.9656;SRR=121;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-449.978,0,-570.592:391:214:177:6558:7987:214,177 . . . . . . . . . +chr2 179430997 . G A 6175.25 . AB=0.482574;ABP=3.99416;AC=8;AF=0.5;AN=14;AO=180;CIGAR=1X;DP=2673;DPB=373;DPRA=0;EPP=7.83579;EPPR=21.9235;GTI=0;LEN=1;MEANALT=1;MQM=41.9889;MQMR=41.772;NS=1;NUMALT=1;ODDS=1050.89;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6679;QR=7050;RO=193;RPL=71;RPP=20.4303;RPPR=7.07197;RPR=109;RUN=1;SAF=97;SAP=5.37479;SAR=83;SF=5,9,10,12,16,20,25;SRF=91;SRP=4.37169;SRR=102;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-466.02,0,-499.09:373:193:180:6679:7050:193,180 . . . 0/1:-354.878,0,-316.1:263:124:138:5019:4553:124,138 0/1:-417.892,0,-363.896:302:144:158:5879:5232:144,158 . 1/1:-1325.88,-124.024,0:412:0:412:15365:0:0,412 . . . 0/1:-489.725,0,-392.381:337:153:183:6837:5700:153,183 . . . 0/1:-533.406,0,-471.63:386:183:203:7526:6819:183,203 . . . . 0/1:-809.353,0,-724.555:600:290:309:11476:10463:290,309 . . . . . . . . . . . +chr2 179431594 . A G 5400.20 . AB=0.502315;ABP=3.03041;AC=1;AF=0.5;AN=2;AO=217;CIGAR=1X;DP=432;DPB=432;DPRA=0;EPP=56.3365;EPPR=6.29795;GTI=0;LEN=1;MEANALT=2;MQM=41.7972;MQMR=41.9907;NS=1;NUMALT=1;ODDS=1236.22;PAIRED=0.995392;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7919;QR=7853;RO=214;RPL=136;RPP=33.2808;RPPR=67.9515;RPR=81;RUN=1;SAF=91;SAP=15.2686;SAR=126;SF=27;SRF=95;SRP=8.85501;SRR=119;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-556.021,0,-550.724:432:214:217:7919:7853:214,217 . . . . . . . . . +chr2 179431797 . A T 3881.41 . AB=0.511254;ABP=3.35243;AC=2;AF=0.5;AN=4;AO=159;CIGAR=1X;DP=577;DPB=311;DPRA=0;EPP=4.11652;EPPR=19.5249;GTI=0;LEN=1;MEANALT=1;MQM=41.8428;MQMR=41.8816;NS=1;NUMALT=1;ODDS=870.633;PAIRED=1;PAIREDR=0.993421;PAO=0;PQA=0;PQR=0;PRO=0;QA=5899;QR=5568;RO=152;RPL=74;RPP=4.6628;RPPR=25.8679;RPR=85;RUN=1;SAF=76;SAP=3.6795;SAR=83;SF=5,10;SRF=73;SRP=3.5246;SRR=79;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-415.218,0,-389.062:311:152:159:5899:5568:152,159 . . . . 0/1:-376.995,0,-303.181:266:123:143:5317:4424:123,143 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179432185 . A G 6029.15 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=337;CIGAR=1X;DP=2704;DPB=337;DPRA=0;EPP=91.2159;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8754;MQMR=0;NS=1;NUMALT=1;ODDS=471.786;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=12244;QR=0;RO=0;RPL=122;RPP=58.7405;RPPR=0;RPR=215;RUN=1;SAF=181;SAP=7.03751;SAR=156;SF=3,5,6,10,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-1063.41,-101.447,0:337:0:337:12244:0:0,337 . 0/1:-527.305,0,-514.743:408:199:207:7471:7349:199,207 0/1:-441.286,0,-231.522:267:100:167:5999:3588:100,167 . . . 0/1:-479.48,0,-411.141:351:167:183:6734:5951:167,183 . . . . . . . . . . . . . 0/1:-271.806,0,-200.487:185:80:105:3761:2948:80,105 0/1:-841.345,0,-700.46:618:287:328:11799:10194:287,328 . 0/1:-697.966,0,-655.814:538:259:276:9873:9412:259,276 . . . . . . . . . +chr2 179433221 . T C 7788.40 . AB=0.511785;ABP=3.72681;AC=1;AF=0.5;AN=2;AO=304;CIGAR=1X;DP=594;DPB=594;DPRA=0;EPP=20.8678;EPPR=17.6074;GTI=0;LEN=1;MEANALT=2;MQM=41.9803;MQMR=41.9236;NS=1;NUMALT=1;ODDS=1639.98;PAIRED=1;PAIREDR=0.996528;PAO=0;PQA=0;PQR=0;PRO=0;QA=11245;QR=10455;RO=288;RPL=202;RPP=74.4403;RPPR=66.8275;RPR=102;RUN=1;SAF=151;SAP=3.03887;SAR=153;SF=27;SRF=152;SRP=4.9405;SRR=136;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-794.579,0,-727.017:594:288:304:11245:10455:288,304 . . . . . . . . . +chr2 179433580 . T C 5800.32 . AB=0.467181;ABP=7.85629;AC=1;AF=0.5;AN=2;AO=242;CIGAR=1X;DP=518;DPB=518;DPRA=0;EPP=31.1497;EPPR=10.5986;GTI=0;LEN=1;MEANALT=2;MQM=41.8388;MQMR=41.7927;NS=1;NUMALT=1;ODDS=1335.57;PAIRED=1;PAIREDR=0.989091;PAO=0;PQA=0;PQR=0;PRO=0;QA=8702;QR=9988;RO=275;RPL=156;RPP=46.9781;RPPR=40.6044;RPR=86;RUN=1;SAF=87;SAP=44.5016;SAR=155;SF=27;SRF=85;SRP=90.0666;SRR=190;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-598.369,0,-708.684:518:275:242:8702:9988:275,242 . . . . . . . . . +chr2 179434139 . A G 4106.22 . AB=0.459834;ABP=8.06905;AC=1;AF=0.5;AN=2;AO=166;CIGAR=1X;DP=361;DPB=361;DPRA=0;EPP=3.48122;EPPR=3.29158;GTI=0;LEN=1;MEANALT=3;MQM=41.8373;MQMR=41.6995;NS=1;NUMALT=1;ODDS=945.491;PAIRED=0.993976;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6056;QR=6725;RO=193;RPL=89;RPP=4.89399;RPPR=15.2628;RPR=77;RUN=1;SAF=81;SAP=3.2196;SAR=85;SF=27;SRF=97;SRP=3.02155;SRR=96;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-417.416,0,-474.631:361:193:166:6056:6725:193,166 . . . . . . . . . +chr2 179434516 . C T 3967.72 . AB=0.533546;ABP=6.06979;AC=2;AF=0.5;AN=4;AO=167;CIGAR=1X;DP=589;DPB=313;DPRA=0;EPP=5.20778;EPPR=8.41652;GTI=0;LEN=1;MEANALT=2;MQM=41.988;MQMR=41.9862;NS=1;NUMALT=1;ODDS=831.602;PAIRED=0.994012;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6259;QR=5340;RO=145;RPL=72;RPP=9.8888;RPPR=9.61457;RPR=95;RUN=1;SAF=82;SAP=3.12733;SAR=85;SF=5,10;SRF=70;SRP=3.38469;SRR=75;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-446.841,0,-369.614:313:145:167:6259:5340:145,167 . . . . 0/1:-362.112,0,-358.728:276:139:137:5152:5082:139,137 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179436020 . G A 5759.52 . AB=0.515152;ABP=3.47092;AC=6;AF=0.5;AN=10;AO=119;CIGAR=1X;DP=1677;DPB=231;DPRA=0;EPP=5.21827;EPPR=3.32051;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.8214;NS=1;NUMALT=1;ODDS=657.365;PAIRED=1;PAIREDR=0.991071;PAO=0;PQA=0;PQR=0;PRO=0;QA=4415;QR=4193;RO=112;RPL=69;RPP=9.59771;RPPR=4.94911;RPR=50;RUN=1;SAF=51;SAP=8.28388;SAR=68;SF=9,12,16,20,25;SRF=45;SRP=12.3942;SRR=67;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-312.304,0,-293.346:231:112:119:4415:4193:112,119 . . 1/1:-1171.69,-109.274,0:363:0:363:13578:0:0,363 . . . 0/1:-324.862,0,-422.06:285:158:127:4750:5867:158,127 . . . 0/1:-460.767,0,-408.27:331:159:171:6495:5876:159,171 . . . . 0/1:-656.391,0,-561.49:467:221:246:9240:8120:221,246 . . . . . . . . . . . +chr2 179440029 . G A 9178.93 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=590;CIGAR=1X;DP=4232;DPB=594;DPRA=0;EPP=159.194;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=41.8102;MQMR=0;NS=1;NUMALT=1;ODDS=822.519;PAIRED=0.99661;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=20798;QR=0;RO=0;RPL=196;RPP=147.299;RPPR=0;RPR=394;RUN=1;SAF=294;SAP=3.02502;SAR=296;SF=3,5,6,10,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-1811.51,-177.608,0:594:0:590:20798:0:0,590 . 0/1:-927.389,0,-715.121:669:297:370:13023:10511:297,370 0/1:-593.862,0,-454.524:431:192:237:8282:6702:192,237 . . . 0/1:-767.87,0,-609.241:556:250:306:10706:8926:250,306 . . . . . . . . . . . . . 0/1:-436.212,0,-334.906:314:139:175:6058:4920:139,175 0/1:-1070.68,0,-1217.93:941:484:455:15493:17231:484,455 . 0/1:-1003.46,0,-742.628:727:314:408:14014:11040:314,408 . . . . . . . . . +chr2 179441295 . T C 239.93 . AB=0.180791;ABP=159.663;AC=1;AF=0.5;AN=2;AO=32;CIGAR=1X;DP=177;DPB=177;DPRA=0;EPP=5.45321;EPPR=9.04217;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9722;NS=1;NUMALT=1;ODDS=55.245;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1154;QR=5165;RO=144;RPL=11;RPP=9.79615;RPPR=16.582;RPR=21;RUN=1;SAF=18;SAP=4.09604;SAR=14;SF=21;SRF=65;SRP=5.96592;SRR=79;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-47.4159,0,-396.815:177:144:32:1154:5165:144,32 . . . . . . . . . . . . . . . +chr2 179441947 . C T 886.08 . AB=0.507042;ABP=3.04088;AC=1;AF=0.5;AN=2;AO=36;CIGAR=1X;DP=71;DPB=71;DPRA=0;EPP=9.04217;EPPR=10.5174;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=197.607;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1331;QR=1300;RO=35;RPL=19;RPP=3.25157;RPPR=3.07234;RPR=17;RUN=1;SAF=14;SAP=6.8707;SAR=22;SF=24;SRF=14;SRP=6.05036;SRR=21;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon152:c.G41920A:p.D13974N,TTN:NM_133432:exon153:c.G42295A:p.D14099N,TTN:NM_133437:exon153:c.G42496A:p.D14166N,TTN:NM_133378:exon273:c.G61411A:p.D20471N,TTN:NM_001256850:exon274:c.G64192A:p.D21398N,TTN:NM_001267550:exon324:c.G69115A:p.D23039N;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;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=0.996;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=3.505;MutationAssessor_score_rankscore=0.930;MutationAssessor_pred=H;FATHMM_score=0.86;FATHMM_converted_rankscore=0.468;FATHMM_pred=T;PROVEAN_score=-3.64;PROVEAN_converted_rankscore=0.717;PROVEAN_pred=D;VEST3_score=0.076;VEST3_rankscore=0.067;MetaSVM_score=0.004;MetaSVM_rankscore=0.823;MetaSVM_pred=D;MetaLR_score=0.430;MetaLR_rankscore=0.772;MetaLR_pred=T;M-CAP_score=0.026;M-CAP_rankscore=0.486;M-CAP_pred=D;REVEL_score=0.373;REVEL_rankscore=0.695;MutPred_score=0.334;MutPred_rankscore=0.322;CADD_raw=3.130;CADD_raw_rankscore=0.436;CADD_phred=22.6;DANN_score=0.940;DANN_rankscore=0.236;fathmm-MKL_coding_score=0.986;fathmm-MKL_coding_rankscore=0.844;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.014;Eigen-PC-raw=0.953;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=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=20.028;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=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d98.181067;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-94.3152,0,-91.5581:71:35:36:1331:1300:35,36 . . . . . . . . . . . . +chr2 179442546 . A G 2308.17 . AB=0.487685;ABP=3.27772;AC=1;AF=0.5;AN=2;AO=99;CIGAR=1X;DP=203;DPB=203;DPRA=0;EPP=9.34924;EPPR=39.8418;GTI=0;LEN=1;MEANALT=1;MQM=41.9394;MQMR=42;NS=1;NUMALT=1;ODDS=531.476;PAIRED=0.979798;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3468;QR=3654;RO=104;RPL=69;RPP=36.372;RPPR=55.2092;RPR=30;RUN=1;SAF=49;SAP=3.03223;SAR=50;SF=10;SRF=38;SRP=19.3799;SRR=66;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon151:c.T41412C:p.G13804G,TTN:NM_133432:exon152:c.T41787C:p.G13929G,TTN:NM_133437:exon152:c.T41988C:p.G13996G,TTN:NM_133378:exon272:c.T60903C:p.G20301G,TTN:NM_001256850:exon273:c.T63684C:p.G21228G,TTN:NM_001267550:exon323:c.T68607C:p.G22869G;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs772421669;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.802e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.299e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.59e-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\x3d98.086908;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-241.411,0,-257.379:203:104:99:3468:3654:104,99 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179444137 . A G 2500.13 . AB=0.42515;ABP=11.1371;AC=8;AF=0.5;AN=14;AO=71;CIGAR=1X;DP=1203;DPB=167;DPRA=0;EPP=4.50892;EPPR=27.9022;GTI=0;LEN=1;MEANALT=2;MQM=41.5211;MQMR=41.9789;NS=1;NUMALT=1;ODDS=391.308;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2672;QR=3610;RO=95;RPL=28;RPP=9.89173;RPPR=27.9022;RPR=43;RUN=1;SAF=24;SAP=19.1893;SAR=47;SF=5,9,10,12,16,20,25;SRF=36;SRP=15.102;SRR=59;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-179.434,0,-261.504:167:95:71:2672:3610:95,71 . . . 0/1:-115.151,0,-206.911:125:76:48:1761:2826:76,48 0/1:-191.884,0,-195.061:146:72:74:2719:2769:72,74 . 1/1:-545.739,-50.573,0:168:0:168:6319:0:0,168 . . . 0/1:-208.807,0,-173.116:144:66:78:2908:2520:66,78 . . . 0/1:-208.256,0,-184.059:152:72:80:2993:2667:72,80 . . . . 0/1:-390.352,0,-386.714:301:149:152:5547:5544:149,152 . . . . . . . . . . . +chr2 179444289 . A G 2813.46 . AB=0.567308;ABP=11.1951;AC=1;AF=0.5;AN=2;AO=118;CIGAR=1X;DP=208;DPB=208;DPRA=0;EPP=38.6372;EPPR=29.5803;GTI=0;LEN=1;MEANALT=2;MQM=41.8051;MQMR=41.7753;NS=1;NUMALT=1;ODDS=480.778;PAIRED=1;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=4154;QR=3258;RO=89;RPL=28;RPP=73.7488;RPPR=18.2594;RPR=90;RUN=1;SAF=67;SAP=7.72129;SAR=51;SF=27;SRF=47;SRP=3.62026;SRR=42;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-299.443,0,-219.533:208:89:118:4154:3258:89,118 . . . . . . . . . +chr2 179444768 . C G 11805.58 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=353;CIGAR=1X;DP=4843;DPB=353;DPRA=0;EPP=30.6243;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9235;MQMR=0;NS=1;NUMALT=1;ODDS=493.967;PAIRED=0.997167;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=13156;QR=0;RO=0;RPL=173;RPP=3.31172;RPPR=0;RPR=180;RUN=1;SAF=154;SAP=15.467;SAR=199;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1135.62,-106.264,0:353:0:353:13156:0:0,353 . . 1/1:-1045.49,-96.6306,0:322:0:321:12103:0:0,321 . 1/1:-1275.69,-119.214,0:401:1:400:14782:15:1,400 1/1:-956.549,-90.61,0:301:0:301:11059:0:0,301 . . 1/1:-1045.34,-96.3356,0:325:1:324:12141:15:1,324 1/1:-1242.12,-116.298,0:393:1:390:14397:16:1,390 . 1/1:-1455.93,-136.433,0:459:1:457:16895:16:1,457 . . . 1/1:-1245.19,-114.993,0:382:0:382:14432:0:0,382 . . . 1/1:-1258.71,-117.402,0:390:0:390:14587:0:0,390 1/1:-666.668,-63.5173,0:212:0:211:7706:0:0,211 . . 1/1:-651.321,-61.4101,0:204:0:204:7523:0:0,204 1/1:-1925.44,-182.725,0:607:0:607:22273:0:0,607 . 1/1:-1554.17,-148.709,0:494:0:494:17976:0:0,494 . . . . . . . . . +chr2 179444939 . C T 3044.00 . AB=0.45977;ABP=5.45633;AC=8;AF=0.5;AN=14;AO=80;CIGAR=1X;DP=1415;DPB=174;DPRA=0;EPP=30.8051;EPPR=14.1911;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=439.506;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2930;QR=3527;RO=94;RPL=51;RPP=16.1477;RPPR=21.1213;RPR=29;RUN=1;SAF=35;SAP=5.72464;SAR=45;SF=5,9,10,12,16,20,25;SRF=45;SRP=3.37991;SRR=49;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-201.894,0,-252.894:174:94:80:2930:3527:94,80 . . . 0/1:-196.039,0,-219.353:161:84:77:2838:3088:84,77 0/1:-204.03,0,-197.561:155:77:78:2891:2814:77,78 . 1/1:-655.946,-61.4101,0:206:0:204:7561:0:0,204 . . . 0/1:-248.344,0,-228.356:182:88:94:3496:3287:88,94 . . . 0/1:-280.737,0,-228.017:198:89:108:3915:3325:89,108 . . . . 0/1:-426.627,0,-438.317:339:170:167:6082:6303:170,167 . . . . . . . . . . . +chr2 179447848 . T C 6821.33 . AB=0.422319;ABP=26.963;AC=9;AF=0.5;AN=16;AO=193;CIGAR=1X;DP=3769;DPB=457;DPRA=0;EPP=100.322;EPPR=80.6962;GTI=0;LEN=1;MEANALT=2;MQM=41.772;MQMR=41.9848;NS=1;NUMALT=1;ODDS=1072.42;PAIRED=0.989637;PAIREDR=0.992395;PAO=0;PQA=0;PQR=0;PRO=0;QA=7208;QR=9854;RO=263;RPL=109;RPP=10.0423;RPPR=4.40566;RPR=84;RUN=1;SAF=97;SAP=3.02155;SAR=96;SF=5,9,10,12,16,20,25,27;SRF=131;SRP=3.01856;SRR=132;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-486.028,0,-715.291:457:263:193:7208:9854:263,193 . . . 0/1:-399.155,0,-531.749:355:199:156:5844:7377:199,156 0/1:-453.311,0,-486.635:356:182:174:6469:6872:182,174 . 1/1:-1627.27,-141.889,0:515:4:511:18961:147:4,511 . . . 0/1:-450.823,0,-547.685:377:204:173:6521:7647:204,173 . . . 0/1:-545.004,0,-630.041:457:241:215:7891:8868:241,215 . . . . 0/1:-973.73,0,-779.567:675:307:367:13586:11348:307,367 . 0/1:-715.3,0,-766.793:577:294:283:10259:10856:294,283 . . . . . . . . . +chr2 179448315 . A C 1339.74 . AB=0.475;ABP=3.66174;AC=1;AF=0.5;AN=2;AO=57;CIGAR=1X;DP=120;DPB=120;DPRA=0;EPP=4.877;EPPR=3.32051;GTI=0;LEN=1;MEANALT=1;MQM=41.6491;MQMR=41.127;NS=1;NUMALT=1;ODDS=308.486;PAIRED=0.982456;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2073;QR=2262;RO=63;RPL=15;RPP=30.7823;RPPR=28.1373;RPR=42;RUN=1;SAF=39;SAP=19.8106;SAR=18;SF=27;SRF=51;SRP=55.4358;SRR=12;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-143.918,0,-159.609:120:63:57:2073:2262:63,57 . . . . . . . . . +chr2 179449131 . G A 6489.65 . AB=0.466431;ABP=8.55024;AC=1;AF=0.5;AN=2;AO=264;CIGAR=1X;DP=566;DPB=566;DPRA=0;EPP=21.9613;EPPR=38.4777;GTI=0;LEN=1;MEANALT=2;MQM=41.9091;MQMR=41.7567;NS=1;NUMALT=1;ODDS=1494.3;PAIRED=1;PAIREDR=0.993333;PAO=0;PQA=0;PQR=0;PRO=0;QA=9605;QR=10831;RO=300;RPL=97;RPP=43.3141;RPPR=69.7179;RPR=167;RUN=1;SAF=145;SAP=8.57059;SAR=119;SF=25;SRF=157;SRP=4.429;SRR=143;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-663.381,0,-766.66:566:300:264:9605:10831:300,264 . . . . . . . . . . . +chr2 179449186 . G A 4114.99 . AB=0.486405;ABP=3.54169;AC=1;AF=0.5;AN=2;AO=161;CIGAR=1X;DP=331;DPB=331;DPRA=0;EPP=3.67118;EPPR=3.02315;GTI=0;LEN=1;MEANALT=2;MQM=41.8323;MQMR=41.7633;NS=1;NUMALT=1;ODDS=947.512;PAIRED=1;PAIREDR=0.982249;PAO=0;PQA=0;PQR=0;PRO=0;QA=6035;QR=6337;RO=169;RPL=102;RPP=27.9485;RPPR=11.0409;RPR=59;RUN=1;SAF=81;SAP=3.02379;SAR=80;SF=10;SRF=74;SRP=8.67669;SRR=95;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-421.081,0,-448.044:331:169:161:6035:6337:169,161 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179451420 . G A 6978.11 . AB=0.512931;ABP=3.68421;AC=7;AF=0.5;AN=12;AO=238;CIGAR=1X;DP=2547;DPB=464;DPRA=0;EPP=42.7537;EPPR=23.3414;GTI=0;LEN=1;MEANALT=1;MQM=41.9748;MQMR=41.8319;NS=1;NUMALT=1;ODDS=1346.04;PAIRED=0.991597;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9035;QR=8525;RO=226;RPL=106;RPP=9.17801;RPPR=3.0103;RPR=132;RUN=1;SAF=114;SAP=3.92268;SAR=124;SF=5,9,10,12,20,25;SRF=107;SRP=4.39389;SRR=119;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-640.59,0,-594.079:464:226:238:9035:8525:226,238 . . . 0/1:-377.303,0,-361.394:280:137:142:5342:5155:137,142 0/1:-381.579,0,-461.677:319:173:146:5530:6462:173,146 . 1/1:-1648.7,-150.971,0:514:1:512:19187:39:1,512 . . . . . . . 0/1:-492.739,0,-633.341:435:240:194:7270:8856:240,194 . . . . 0/1:-723.168,0,-668.46:535:258:276:10256:9620:258,276 . . . . . . . . . . . +chr2 179451906 . G A 4869.94 . AB=0.517615;ABP=4.00482;AC=1;AF=0.5;AN=2;AO=191;CIGAR=1X;DP=369;DPB=369;DPRA=0;EPP=26.0325;EPPR=4.49475;GTI=0;LEN=1;MEANALT=2;MQM=41.9895;MQMR=41.774;NS=1;NUMALT=1;ODDS=1038.15;PAIRED=1;PAIREDR=0.988701;PAO=0;PQA=0;PQR=0;PRO=0;QA=7176;QR=6704;RO=177;RPL=50;RPP=97.1567;RPPR=75.7485;RPR=141;RUN=1;SAF=122;SAP=34.9457;SAR=69;SF=0;SRF=104;SRP=14.8;SRR=73;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-509.49,0,-466.833:369:177:191:7176:6704:177,191 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179454394 . A G 6353.68 . AB=0.515235;ABP=3.73813;AC=7;AF=0.5;AN=12;AO=186;CIGAR=1X;DP=2414;DPB=361;DPRA=0;EPP=8.6608;EPPR=7.48974;GTI=0;LEN=1;MEANALT=1;MQM=41.9785;MQMR=41.8743;NS=1;NUMALT=1;ODDS=1036.43;PAIRED=0.978495;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6997;QR=6595;RO=175;RPL=69;RPP=29.9085;RPPR=25.9535;RPR=117;RUN=1;SAF=111;SAP=18.1406;SAR=75;SF=5,9,10,12,20,25;SRF=95;SRP=5.80219;SRR=80;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-495.868,0,-460.254:361:175:186:6997:6595:175,186 . . . 0/1:-293.041,0,-379.806:252:139:113:4285:5273:139,113 0/1:-321.589,0,-454.113:297:168:128:4757:6303:168,128 . 1/1:-1479.6,-140.882,0:468:0:468:17298:0:0,468 . . . . . . . 0/1:-598.803,0,-587.017:451:222:229:8564:8369:222,229 . . . . 0/1:-689.994,0,-816.163:585:310:274:10045:11522:310,274 . . . . . . . . . . . +chr2 179455207 . T C 5977.25 . AB=0.437956;ABP=16.7524;AC=7;AF=0.5;AN=12;AO=180;CIGAR=1X;DP=2391;DPB=411;DPRA=0;EPP=3.05855;EPPR=18.9502;GTI=0;LEN=1;MEANALT=2;MQM=41.6111;MQMR=41.9825;NS=1;NUMALT=1;ODDS=1002.97;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6637;QR=8530;RO=229;RPL=120;RPP=46.4397;RPPR=20.5433;RPR=60;RUN=1;SAF=77;SAP=11.1654;SAR=103;SF=5,9,10,12,20,25;SRF=101;SRP=9.92298;SRR=128;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-449.164,0,-614.768:411:229:180:6637:8530:229,180 . . . 0/1:-263.934,0,-382.894:246:142:104:3898:5281:142,104 0/1:-251.472,0,-437.055:264:159:105:3812:5974:159,105 . 1/1:-1358.08,-127.336,0:423:0:423:15695:0:0,423 . . . . . . . 0/1:-537.853,0,-670.246:461:249:211:7831:9399:249,211 . . . . 0/1:-795.774,0,-702.313:586:276:310:11233:10186:276,310 . . . . . . . . . . . +chr2 179455631 . G A 5038.10 . AB=0.522546;ABP=4.6749;AC=1;AF=0.5;AN=2;AO=197;CIGAR=1X;DP=377;DPB=377;DPRA=0;EPP=29.4758;EPPR=7.83579;GTI=0;LEN=1;MEANALT=1;MQM=41.6447;MQMR=41.8889;NS=1;NUMALT=1;ODDS=1056.66;PAIRED=0.984772;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7304;QR=6717;RO=180;RPL=110;RPP=8.84131;RPPR=8.84915;RPR=87;RUN=1;SAF=99;SAP=3.02132;SAR=98;SF=10;SRF=93;SRP=3.44459;SRR=87;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon132:c.C33626T:p.P11209L,TTN:NM_133432:exon133:c.C34001T:p.P11334L,TTN:NM_133437:exon133:c.C34202T:p.P11401L,TTN:NM_133378:exon253:c.C53117T:p.P17706L,TTN:NM_001256850:exon254:c.C55898T:p.P18633L,TTN:NM_001267550:exon304:c.C60821T:p.P20274L;1000g2015aug_all=0.00299521;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72646845;CLNALLELEID=56330;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=0.007;SIFT_converted_rankscore=0.599;SIFT_pred=D;Polyphen2_HDIV_score=0.994;Polyphen2_HDIV_rankscore=0.689;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.918;Polyphen2_HVAR_rankscore=0.636;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=3.64;MutationAssessor_score_rankscore=0.942;MutationAssessor_pred=H;FATHMM_score=0.24;FATHMM_converted_rankscore=0.596;FATHMM_pred=T;PROVEAN_score=-6.76;PROVEAN_converted_rankscore=0.940;PROVEAN_pred=D;VEST3_score=0.345;VEST3_rankscore=0.477;MetaSVM_score=0.134;MetaSVM_rankscore=0.848;MetaSVM_pred=D;MetaLR_score=0.506;MetaLR_rankscore=0.814;MetaLR_pred=D;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.390;REVEL_rankscore=0.709;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.221;CADD_raw_rankscore=0.328;CADD_phred=17.65;DANN_score=0.924;DANN_rankscore=0.212;fathmm-MKL_coding_score=0.971;fathmm-MKL_coding_rankscore=0.723;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.980;Eigen-PC-raw=0.936;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.364;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.283;integrated_confidence_value=0;GERP++_RS=6.11;GERP++_RS_rankscore=0.991;phyloP100way_vertebrate=5.528;phyloP100way_vertebrate_rankscore=0.666;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=20.734;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=0.0012;ExAC_nontcga_ALL=0.0041;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0023;ExAC_nontcga_OTH=0.0072;ExAC_nontcga_SAS=0.0175;AF=0.0006;AF_popmax=0.0007;AF_male=0.0007;AF_female=0.0005;AF_raw=0.0006;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0007;AF_fin=0.0003;AF_asj=0.0138;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=0.0033376;Kaviar_AC=516;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.571972;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-514.343,0,-467.239:377:180:197:7304:6717:180,197 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179457147 . G A 4292.28 . AB=0.472222;ABP=3.9754;AC=5;AF=0.5;AN=8;AO=68;CIGAR=1X;DP=995;DPB=144;DPRA=0;EPP=28.0461;EPPR=22.325;GTI=0;LEN=1;MEANALT=1;MQM=41.6912;MQMR=41.9737;NS=1;NUMALT=1;ODDS=355.179;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2405;QR=2859;RO=76;RPL=24;RPP=15.7837;RPPR=10.3247;RPR=44;RUN=1;SAF=44;SAP=15.7837;SAR=24;SF=9,12,20,25;SRF=41;SRP=4.03889;SRR=35;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-165.668,0,-204.144:144:76:68:2405:2859:76,68 . . 1/1:-862.488,-80.375,0:267:0:267:10035:0:0,267 . . . . . . . 0/1:-281.019,0,-285.701:220:111:107:4006:4070:111,107 . . . . 0/1:-464.53,0,-480.316:364:184:178:6628:6820:184,178 . . . . . . . . . . . +chr2 179457856 . AAGTTA AA 1395.63 . AB=0.41958;ABP=11.0432;AC=1;AF=0.5;AN=2;AO=60;CIGAR=1M4D1M;DP=143;DPB=103;DPRA=0;EPP=8.22183;EPPR=32.2045;GTI=0;LEN=4;MEANALT=3;MQM=41.3667;MQMR=41.9012;NS=1;NUMALT=1;ODDS=321.355;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2202;QR=2967;RO=81;RPL=36;RPP=8.22183;RPPR=9.04217;RPR=24;RUN=1;SAF=30;SAP=3.0103;SAR=30;SF=12;SRF=31;SRP=12.6881;SRR=50;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-147.412,0,-215.177:143:81:60:2202:2967:81,60 . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179458591 . C T 3667.33 . AB=0.424242;ABP=11.2356;AC=5;AF=0.5;AN=8;AO=70;CIGAR=1X;DP=933;DPB=165;DPRA=0;EPP=9.09042;EPPR=4.86177;GTI=0;LEN=1;MEANALT=1;MQM=41.7143;MQMR=41.9579;NS=1;NUMALT=1;ODDS=360.851;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2465;QR=3171;RO=95;RPL=30;RPP=6.1124;RPPR=3.03316;RPR=40;RUN=1;SAF=32;SAP=4.12706;SAR=38;SF=9,12,20,25;SRF=43;SRP=4.86177;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-164.83,0,-228.548:165:95:70:2465:3171:95,70 . . 1/1:-694.252,-66.2266,0:221:0:220:8012:0:0,220 . . . . . . . 0/1:-227.171,0,-253.66:195:100:95:3324:3579:100,95 . . . . 0/1:-417.006,0,-432.561:352:180:171:6086:6170:180,171 . . . . . . . . . . . +chr2 179462494 . A G 3776.96 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=214;CIGAR=1X;DP=1710;DPB=217;DPRA=0;EPP=4.47148;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=41.9907;MQMR=30;NS=1;NUMALT=1;ODDS=279.014;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7834;QR=85;RO=3;RPL=153;RPP=88.8951;RPPR=3.73412;RPR=61;RUN=1;SAF=104;SAP=3.37559;SAR=110;SF=3,5,6,10,24,25,27;SRF=1;SRP=3.73412;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-673.648,-58.7978,0:217:3:214:7834:85:3,214 . 0/1:-328.426,0,-308.987:247:120:127:4649:4425:120,127 0/1:-181.728,0,-188.963:144:72:71:2582:2682:72,71 . . . 0/1:-268.508,0,-227.918:193:90:102:3755:3300:90,102 . . . . . . . . . . . . . 0/1:-147.781,0,-177.565:124:66:58:2130:2491:66,58 0/1:-586.982,0,-535.865:449:210:239:8293:7755:210,239 . 0/1:-534.117,0,-309.7:336:132:203:7311:4733:132,203 . . . . . . . . . +chr2 179463991 . C T 4096.74 . AB=0.502907;ABP=3.03555;AC=1;AF=0.5;AN=2;AO=173;CIGAR=1X;DP=344;DPB=344;DPRA=0;EPP=3.02285;EPPR=21.455;GTI=0;LEN=1;MEANALT=2;MQM=38.4566;MQMR=40.1471;NS=1;NUMALT=1;ODDS=904.165;PAIRED=0.99422;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6502;QR=5990;RO=170;RPL=84;RPP=3.3241;RPPR=5.51388;RPR=89;RUN=1;SAF=86;SAP=3.02285;SAR=87;SF=25;SRF=84;SRP=3.06139;SRR=86;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-416.733,0,-401.79:344:170:173:6502:5990:170,173 . . . . . . . . . . . +chr2 179464527 . T C 3891.36 . AB=0.477273;ABP=3.79993;AC=7;AF=0.5;AN=12;AO=84;CIGAR=1X;DP=1499;DPB=176;DPRA=0;EPP=9.62812;EPPR=7.63648;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.7717;NS=1;NUMALT=1;ODDS=470.665;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3052;QR=3477;RO=92;RPL=48;RPP=6.73282;RPPR=21.515;RPR=36;RUN=1;SAF=34;SAP=9.62812;SAR=50;SF=5,9,10,12,20,25;SRF=33;SRP=18.9659;SRR=59;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-212.576,0,-247.162:176:92:84:3052:3477:92,84 . . . 0/1:-133.299,0,-306.897:170:111:59:2116:4139:111,59 0/1:-250.931,0,-230.807:188:88:100:3544:3328:88,100 . 1/1:-902.843,-81.0962,0:297:3:294:10507:92:3,294 . . . . . . . 0/1:-356.972,0,-305.097:258:117:141:5024:4436:117,141 . . . . 0/1:-533.728,0,-493.314:410:194:216:7541:7125:194,216 . . . . . . . . . . . +chr2 179466017 . C T 880.50 . AB=0.291667;ABP=66.3449;AC=1;AF=0.5;AN=2;AO=49;CIGAR=1X;DP=168;DPB=168;DPRA=0;EPP=35.3165;EPPR=8.28388;GTI=0;LEN=1;MEANALT=1;MQM=41.9592;MQMR=41.9832;NS=1;NUMALT=1;ODDS=202.742;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1782;QR=4271;RO=119;RPL=21;RPP=5.18177;RPPR=6.09416;RPR=28;RUN=1;SAF=24;SAP=3.05462;SAR=25;SF=21;SRF=62;SRP=3.46649;SRR=57;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon115:c.G28512A:p.Q9504Q,TTN:NM_133432:exon116:c.G28887A:p.Q9629Q,TTN:NM_133437:exon116:c.G29088A:p.Q9696Q,TTN:NM_133378:exon236:c.G48003A:p.Q16001Q,TTN:NM_001256850:exon237:c.G50784A:p.Q16928Q,TTN:NM_001267550:exon287:c.G55707A:p.Q18569Q;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs770298531;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.037e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.922e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d98.840988;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-104.145,0,-320.476:168:119:49:1782:4271:119,49 . . . . . . . . . . . . . . . +chr2 179469697 . G C 3261.74 . AB=0.469091;ABP=5.29232;AC=1;AF=0.5;AN=2;AO=129;CIGAR=1X;DP=275;DPB=275;DPRA=0;EPP=6.79775;EPPR=10.2089;GTI=0;LEN=1;MEANALT=1;MQM=41.6899;MQMR=41.9863;NS=1;NUMALT=1;ODDS=751.044;PAIRED=1;PAIREDR=0.993151;PAO=0;PQA=0;PQR=0;PRO=0;QA=4883;QR=5540;RO=146;RPL=69;RPP=4.37378;RPPR=3.06979;RPR=60;RUN=1;SAF=43;SAP=34.1347;SAR=86;SF=16;SRF=50;SRP=34.4818;SRR=96;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_exonic;Gene.refGene=TTN-AS1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs759925759;CLNALLELEID=499115;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=2.007e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.776e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-336.842,0,-395.297:275:146:129:4883:5540:146,129 . . . . . . . . . . . . . . . . . . . . +chr2 179472223 . A G 7424.18 . AB=0.523636;ABP=5.67924;AC=1;AF=0.5;AN=2;AO=288;CIGAR=1X;DP=550;DPB=550;DPRA=0;EPP=3.28173;EPPR=5.41473;GTI=0;LEN=1;MEANALT=2;MQM=41.6493;MQMR=41.8391;NS=1;NUMALT=1;ODDS=1510.71;PAIRED=0.989583;PAIREDR=0.996169;PAO=0;PQA=0;PQR=0;PRO=0;QA=10649;QR=9607;RO=261;RPL=125;RPP=13.8978;RPPR=10.0073;RPR=163;RUN=1;SAF=132;SAP=7.35324;SAR=156;SF=25;SRF=133;SRP=3.2183;SRR=128;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-751.707,0,-664.729:550:261:288:10649:9607:261,288 . . . . . . . . . . . +chr2 179472825 . T C 1058.91 . AB=0.44898;ABP=5.22609;AC=1;AF=0.5;AN=2;AO=44;CIGAR=1X;DP=98;DPB=98;DPRA=0;EPP=22.751;EPPR=13.3047;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6111;NS=1;NUMALT=1;ODDS=243.824;PAIRED=0.977273;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1665;QR=1956;RO=54;RPL=23;RPP=3.20771;RPPR=7.03155;RPR=21;RUN=1;SAF=17;SAP=7.94546;SAR=27;SF=5;SRF=21;SRP=8.80089;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-114.477,0,-138.847:98:54:44:1665:1956:54,44 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179472908 . T C 734.14 . AB=0.373737;ABP=16.7191;AC=1;AF=0.5;AN=2;AO=37;CIGAR=1X;DP=99;DPB=99;DPRA=0;EPP=3.5385;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=40.8919;MQMR=41.6935;NS=1;NUMALT=1;ODDS=169.042;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1311;QR=2215;RO=62;RPL=10;RPP=19.9713;RPPR=23.184;RPR=27;RUN=1;SAF=24;SAP=10.1116;SAR=13;SF=21;SRF=40;SRP=14.358;SRR=22;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon103:c.A25507G:p.I8503V,TTN:NM_133432:exon104:c.A25882G:p.I8628V,TTN:NM_133437:exon104:c.A26083G:p.I8695V,TTN:NM_133378:exon224:c.A44998G:p.I15000V,TTN:NM_001256850:exon225:c.A47779G:p.I15927V,TTN:NM_001267550:exon275:c.A52702G:p.I17568V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs377571654;CLNALLELEID=199237;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=Uncertain_significance;SIFT_score=0.3;SIFT_converted_rankscore=0.145;SIFT_pred=T;Polyphen2_HDIV_score=0.007;Polyphen2_HDIV_rankscore=0.131;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.007;Polyphen2_HVAR_rankscore=0.149;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=0.994;MutationTaster_converted_rankscore=0.422;MutationTaster_pred=D;MutationAssessor_score=0.59;MutationAssessor_score_rankscore=0.155;MutationAssessor_pred=N;FATHMM_score=0.99;FATHMM_converted_rankscore=0.418;FATHMM_pred=T;PROVEAN_score=-0.66;PROVEAN_converted_rankscore=0.199;PROVEAN_pred=N;VEST3_score=0.187;VEST3_rankscore=0.336;MetaSVM_score=-1.065;MetaSVM_rankscore=0.105;MetaSVM_pred=T;MetaLR_score=0.078;MetaLR_rankscore=0.310;MetaLR_pred=T;M-CAP_score=0.010;M-CAP_rankscore=0.263;M-CAP_pred=T;REVEL_score=0.078;REVEL_rankscore=0.233;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.954;CADD_raw_rankscore=0.185;CADD_phred=10.40;DANN_score=0.909;DANN_rankscore=0.195;fathmm-MKL_coding_score=0.982;fathmm-MKL_coding_rankscore=0.807;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.081;Eigen-PC-raw=0.146;GenoCanyon_score=0.926;GenoCanyon_score_rankscore=0.268;integrated_fitCons_score=0.638;integrated_fitCons_score_rankscore=0.428;integrated_confidence_value=0;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=4.173;phyloP100way_vertebrate_rankscore=0.578;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=16.19;SiPhy_29way_logOdds_rankscore=0.817;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-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;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=0.0001;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=0.0004;non_neuro_AF_popmax=0.0003;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;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\x3d97.696107;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-83.0016,0,-162.492:99:62:37:1311:2215:62,37 . . . . . . . . . . . . . . . +chr2 179474668 . G A 2697.17 . AB=0.521951;ABP=3.8683;AC=1;AF=0.5;AN=2;AO=107;CIGAR=1X;DP=205;DPB=205;DPRA=0;EPP=3.51765;EPPR=3.36483;GTI=0;LEN=1;MEANALT=1;MQM=41.8131;MQMR=42;NS=1;NUMALT=1;ODDS=548.918;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3939;QR=3545;RO=98;RPL=73;RPP=33.8777;RPPR=17.989;RPR=34;RUN=1;SAF=57;SAP=4.00471;SAR=50;SF=10;SRF=55;SRP=6.20103;SRR=43;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-279.675,0,-246.868:205:98:107:3939:3545:98,107 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179476243 . G A 4833.89 . AB=0.508197;ABP=3.22389;AC=1;AF=0.5;AN=2;AO=186;CIGAR=1X;DP=366;DPB=366;DPRA=0;EPP=23.6043;EPPR=13.2126;GTI=0;LEN=1;MEANALT=2;MQM=41.9032;MQMR=41.8883;NS=1;NUMALT=1;ODDS=1023.21;PAIRED=1;PAIREDR=0.994413;PAO=0;PQA=0;PQR=0;PRO=0;QA=7054;QR=6553;RO=179;RPL=124;RPP=47.8874;RPPR=37.0866;RPR=62;RUN=1;SAF=76;SAP=16.5061;SAR=110;SF=5;SRF=77;SRP=10.5923;SRR=102;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon97:c.C23518T:p.R7840C,TTN:NM_133432:exon98:c.C23893T:p.R7965C,TTN:NM_133437:exon98:c.C24094T:p.R8032C,TTN:NM_133378:exon218:c.C43009T:p.R14337C,TTN:NM_001256850:exon219:c.C45790T:p.R15264C,TTN:NM_001267550:exon269:c.C50713T:p.R16905C;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs267599049;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=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.56;MutationAssessor_score_rankscore=0.750;MutationAssessor_pred=M;FATHMM_score=0.4;FATHMM_converted_rankscore=0.573;FATHMM_pred=T;PROVEAN_score=-5.66;PROVEAN_converted_rankscore=0.888;PROVEAN_pred=D;VEST3_score=0.413;VEST3_rankscore=0.542;MetaSVM_score=-0.283;MetaSVM_rankscore=0.755;MetaSVM_pred=T;MetaLR_score=0.389;MetaLR_rankscore=0.743;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.319;M-CAP_pred=T;REVEL_score=0.412;REVEL_rankscore=0.726;MutPred_score=0.606;MutPred_rankscore=0.739;CADD_raw=3.937;CADD_raw_rankscore=0.530;CADD_phred=23.5;DANN_score=0.918;DANN_rankscore=0.205;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.792;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.892;Eigen-PC-raw=0.877;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=5.95;GERP++_RS_rankscore=0.964;phyloP100way_vertebrate=6.643;phyloP100way_vertebrate_rankscore=0.740;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=20.393;SiPhy_29way_logOdds_rankscore=0.990;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_subtype|Immunoglobulin_subtype_2|Immunoglobulin-like_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=7.604e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.687e-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=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\x3d98.144076;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-498.463,0,-456.672:366:179:186:7054:6553:179,186 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179477267 . T G 936.79 . AB=0.525641;ABP=3.45573;AC=1;AF=0.5;AN=2;AO=41;CIGAR=1X;DP=78;DPB=78;DPRA=0;EPP=4.33437;EPPR=7.76406;GTI=0;LEN=1;MEANALT=1;MQM=41.122;MQMR=42;NS=1;NUMALT=1;ODDS=194.043;PAIRED=1;PAIREDR=0.972973;PAO=0;PQA=0;PQR=0;PRO=0;QA=1478;QR=1326;RO=37;RPL=29;RPP=18.3165;RPPR=10.1116;RPR=12;RUN=1;SAF=8;SAP=36.112;SAR=33;SF=24;SRF=10;SRP=19.9713;SRR=27;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-103.658,0,-91.9416:78:37:41:1478:1326:37,41 . . . . . . . . . . . . +chr2 179477717 . A G 3535.22 . AB=0.496403;ABP=3.04154;AC=1;AF=0.5;AN=2;AO=138;CIGAR=1X;DP=278;DPB=278;DPRA=0;EPP=6.09442;EPPR=3.25847;GTI=0;LEN=1;MEANALT=1;MQM=41.8406;MQMR=41.8286;NS=1;NUMALT=1;ODDS=814.016;PAIRED=0.985507;PAIREDR=0.985714;PAO=0;PQA=0;PQR=0;PRO=0;QA=5138;QR=5234;RO=140;RPL=70;RPP=3.07324;RPPR=3.07234;RPR=68;RUN=1;SAF=78;SAP=8.10854;SAR=60;SF=10;SRF=69;SRP=3.07234;SRR=71;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-361.173,0,-368.267:278:140:138:5138:5234:140,138 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179479245 . C T 2688.15 . AB=0.502347;ABP=3.02049;AC=1;AF=0.5;AN=2;AO=107;CIGAR=1X;DP=213;DPB=213;DPRA=0;EPP=27.8706;EPPR=42.6704;GTI=0;LEN=1;MEANALT=1;MQM=41.6542;MQMR=42;NS=1;NUMALT=1;ODDS=609.398;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4031;QR=3956;RO=106;RPL=30;RPP=47.84;RPPR=39.1469;RPR=77;RUN=1;SAF=65;SAP=13.7459;SAR=42;SF=10;SRF=53;SRP=3.0103;SRR=53;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-283.593,0,-278.983:213:106:107:4031:3956:106,107 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179481370 . G A 911.79 . AB=0.469136;ABP=3.68051;AC=1;AF=0.5;AN=2;AO=38;CIGAR=1X;DP=81;DPB=81;DPRA=0;EPP=6.66752;EPPR=14.3727;GTI=0;LEN=1;MEANALT=1;MQM=41.9474;MQMR=41.9535;NS=1;NUMALT=1;ODDS=209.948;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1408;QR=1586;RO=43;RPL=22;RPP=5.06748;RPPR=7.10075;RPR=16;RUN=1;SAF=21;SAP=3.9246;SAR=17;SF=6;SRF=17;SRP=7.10075;SRR=26;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-97.6209,0,-113.305:81:43:38:1408:1586:43,38 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179482089 . C T 841.68 . AB=0.271277;ABP=88.4369;AC=1;AF=0.5;AN=2;AO=51;CIGAR=1X;DP=188;DPB=188;DPRA=0;EPP=8.16222;EPPR=4.29416;GTI=0;LEN=1;MEANALT=1;MQM=41.9608;MQMR=42;NS=1;NUMALT=1;ODDS=193.805;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1810;QR=4983;RO=137;RPL=25;RPP=3.05288;RPPR=4.92817;RPR=26;RUN=1;SAF=18;SAP=12.5903;SAR=33;SF=21;SRF=54;SRP=16.3403;SRR=83;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-100.55,0,-375.879:188:137:51:1810:4983:137,51 . . . . . . . . . . . . . . . +chr2 179486478 . T C 4302.81 . AB=0.557047;ABP=11.4339;AC=1;AF=0.5;AN=2;AO=166;CIGAR=1X;DP=298;DPB=298;DPRA=0;EPP=10.545;EPPR=10.9724;GTI=0;LEN=1;MEANALT=1;MQM=41.6506;MQMR=41.8636;NS=1;NUMALT=1;ODDS=743.291;PAIRED=1;PAIREDR=0.992424;PAO=0;PQA=0;PQR=0;PRO=0;QA=6168;QR=4892;RO=132;RPL=104;RPP=26.0855;RPPR=15.9075;RPR=62;RUN=1;SAF=79;SAP=3.84749;SAR=87;SF=25;SRF=55;SRP=10.9724;SRR=77;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-441.238,0,-333.339:298:132:166:6168:4892:132,166 . . . . . . . . . . . +chr2 179497025 . A G 2797.78 . AB=0.506726;ABP=3.09794;AC=1;AF=0.5;AN=2;AO=113;CIGAR=1X;DP=223;DPB=223;DPRA=0;EPP=8.56389;EPPR=5.9056;GTI=0;LEN=1;MEANALT=3;MQM=41.9115;MQMR=41.8241;NS=1;NUMALT=1;ODDS=629.688;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4078;QR=4033;RO=108;RPL=57;RPP=3.02952;RPPR=5.9056;RPR=56;RUN=1;SAF=68;SAP=13.1759;SAR=45;SF=10;SRF=60;SRP=5.9056;SRR=48;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-288.019,0,-280.975:223:108:113:4078:4033:108,113 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179497133 . C T 2154.19 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=89;CIGAR=1X;DP=178;DPB=178;DPRA=0;EPP=7.13366;EPPR=7.84676;GTI=0;LEN=1;MEANALT=2;MQM=41.5843;MQMR=42;NS=1;NUMALT=1;ODDS=496.021;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3269;QR=3217;RO=88;RPL=57;RPP=18.2594;RPPR=6.56362;RPR=32;RUN=1;SAF=65;SAP=44.0243;SAR=24;SF=5;SRF=57;SRP=19.6912;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-228.011,0,-225.609:178:88:89:3269:3217:88,89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179498042 . T C 1045.60 . AB=0.412281;ABP=10.6295;AC=1;AF=0.5;AN=2;AO=47;CIGAR=1X;DP=114;DPB=114;DPRA=0;EPP=3.42611;EPPR=3.82055;GTI=0;LEN=1;MEANALT=1;MQM=41.1489;MQMR=41.9701;NS=1;NUMALT=1;ODDS=240.757;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1695;QR=2552;RO=67;RPL=16;RPP=13.4056;RPPR=14.7103;RPR=31;RUN=1;SAF=20;SAP=5.27418;SAR=27;SF=9;SRF=35;SRP=3.30199;SRR=32;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-112.554,0,-186.145:114:67:47:1695:2552:67,47 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179505367 . AAGATTA AA 361.49 . AB=0.486486;ABP=3.06899;AC=1;AF=0.5;AN=2;AO=18;CIGAR=1M5D1M;DP=37;DPB=24.1429;DPRA=0;EPP=3.0103;EPPR=4.03889;GTI=0;LEN=5;MEANALT=1;MQM=39.6667;MQMR=42;NS=1;NUMALT=1;ODDS=83.235;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=613;QR=703;RO=19;RPL=9;RPP=3.0103;RPPR=8.61041;RPR=9;RUN=1;SAF=10;SAP=3.49285;SAR=8;SF=24;SRF=11;SRP=4.03889;SRR=8;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-40.326,0,-50.2572:37:19:18:613:703:19,18 . . . . . . . . . . . . +chr2 179515483 . G C 107.69 . AB=0.428571;ABP=3.94093;AC=1;AF=0.5;AN=2;AO=9;CIGAR=1X;DP=21;DPB=21;DPRA=0;EPP=3.25157;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=33.3333;MQMR=42;NS=1;NUMALT=1;ODDS=24.7954;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=285;QR=452;RO=12;RPL=3;RPP=5.18177;RPPR=3.73412;RPR=6;RUN=1;SAF=4;SAP=3.25157;SAR=5;SF=10;SRF=6;SRP=3.0103;SRR=6;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-15.6247,0,-33.2246:21:12:9:285:452:12,9 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179516580 . G C 4084.52 . AB=0.545161;ABP=8.50202;AC=1;AF=0.5;AN=2;AO=169;CIGAR=1X;DP=310;DPB=310;DPRA=0;EPP=11.0409;EPPR=3.76493;GTI=0;LEN=1;MEANALT=1;MQM=40.5266;MQMR=40;NS=1;NUMALT=1;ODDS=747.396;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6101;QR=5170;RO=141;RPL=89;RPP=4.05106;RPPR=3.1489;RPR=80;RUN=1;SAF=52;SAP=57.2971;SAR=117;SF=25;SRF=47;SRP=37.03;SRR=94;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-422.424,0,-335.534:310:141:169:6101:5170:141,169 . . . . . . . . . . . +chr2 179516680 . C G 1203.95 . AB=0.478992;ABP=3.46649;AC=1;AF=0.5;AN=2;AO=57;CIGAR=1X;DP=119;DPB=119;DPRA=0;EPP=3.35316;EPPR=6.51267;GTI=0;LEN=1;MEANALT=1;MQM=37.7719;MQMR=37.9516;NS=1;NUMALT=1;ODDS=277.22;PAIRED=1;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=2075;QR=2294;RO=62;RPL=38;RPP=16.763;RPPR=43.4978;RPR=19;RUN=1;SAF=27;SAP=3.35316;SAR=30;SF=9;SRF=36;SRP=6.51267;SRR=26;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon159:c.G32008C:p.E10670Q,TTN:NM_001256850:exon160:c.G34789C:p.E11597Q,TTN:NM_001267550:exon205:c.G39310C:p.E13104Q;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.392;SIFT_converted_rankscore=0.107;SIFT_pred=T;Polyphen2_HDIV_score=0.608;Polyphen2_HDIV_rankscore=0.376;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.154;Polyphen2_HVAR_rankscore=0.327;Polyphen2_HVAR_pred=B;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.14;MutationAssessor_score_rankscore=0.601;MutationAssessor_pred=M;FATHMM_score=-0.13;FATHMM_converted_rankscore=0.648;FATHMM_pred=T;PROVEAN_score=-1.32;PROVEAN_converted_rankscore=0.330;PROVEAN_pred=N;VEST3_score=0.168;VEST3_rankscore=0.203;MetaSVM_score=-0.761;MetaSVM_rankscore=0.574;MetaSVM_pred=T;MetaLR_score=0.170;MetaLR_rankscore=0.511;MetaLR_pred=T;M-CAP_score=0.053;M-CAP_rankscore=0.655;M-CAP_pred=D;REVEL_score=0.099;REVEL_rankscore=0.289;MutPred_score=0.223;MutPred_rankscore=0.147;CADD_raw=2.264;CADD_raw_rankscore=0.333;CADD_phred=17.93;DANN_score=0.906;DANN_rankscore=0.193;fathmm-MKL_coding_score=0.307;fathmm-MKL_coding_rankscore=0.239;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-0.062;Eigen-PC-raw=-0.033;GenoCanyon_score=0.290;GenoCanyon_score_rankscore=0.191;integrated_fitCons_score=0.534;integrated_fitCons_score_rankscore=0.214;integrated_confidence_value=0;GERP++_RS=5.31;GERP++_RS_rankscore=0.750;phyloP100way_vertebrate=1.125;phyloP100way_vertebrate_rankscore=0.307;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=0.022;phastCons100way_vertebrate_rankscore=0.197;phastCons20way_mammalian=0.962;phastCons20way_mammalian_rankscore=0.444;SiPhy_29way_logOdds=10.300;SiPhy_29way_logOdds_rankscore=0.426;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d97.495945;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-127.955,0,-149.224:119:62:57:2075:2294:62,57 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179517019 . A T 947.43 . AB=0.515432;ABP=3.68051;AC=1;AF=0.5;AN=2;AO=167;CIGAR=1X;DP=324;DPB=324;DPRA=0;EPP=7.70432;EPPR=3.23591;GTI=0;LEN=1;MEANALT=3;MQM=13.5569;MQMR=23.3961;NS=1;NUMALT=1;ODDS=218.155;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6195;QR=5659;RO=154;RPL=62;RPP=27.0525;RPPR=17.4492;RPR=105;RUN=1;SAF=97;SAP=12.4894;SAR=70;SF=25;SRF=88;SRP=9.83493;SRR=66;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-105.67,0,-216.162:324:154:167:6195:5659:154,167 . . . . . . . . . . . +chr2 179517223 . G A 698.10 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=66;CIGAR=1X;DP=132;DPB=132;DPRA=0;EPP=3.53672;EPPR=4.19474;GTI=0;LEN=1;MEANALT=1;MQM=20.2879;MQMR=29.7879;NS=1;NUMALT=1;ODDS=160.743;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2369;QR=2388;RO=66;RPL=29;RPP=5.11597;RPPR=13.6703;RPR=37;RUN=1;SAF=38;SAP=6.30041;SAR=28;SF=9;SRF=34;SRP=3.1419;SRR=32;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon156:c.C31787T:p.A10596V,TTN:NM_001256850:exon157:c.C34568T:p.A11523V,TTN:NM_001267550:exon202:c.C39089T:p.A13030V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs747459623;CLNALLELEID=449899;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=0.311;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=N;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=0.6;PROVEAN_converted_rankscore=0.025;PROVEAN_pred=N;VEST3_score=0.057;VEST3_rankscore=0.075;MetaSVM_score=-1.003;MetaSVM_rankscore=0.290;MetaSVM_pred=T;MetaLR_score=0.119;MetaLR_rankscore=0.417;MetaLR_pred=T;M-CAP_score=0.022;M-CAP_rankscore=0.450;M-CAP_pred=T;REVEL_score=0.025;REVEL_rankscore=0.055;MutPred_score=0.286;MutPred_rankscore=0.245;CADD_raw=0.259;CADD_raw_rankscore=0.119;CADD_phred=5.291;DANN_score=0.772;DANN_rankscore=0.114;fathmm-MKL_coding_score=0.001;fathmm-MKL_coding_rankscore=0.005;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.518;Eigen-PC-raw=-1.571;GenoCanyon_score=0.005;GenoCanyon_score_rankscore=0.109;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-1.86;GERP++_RS_rankscore=0.073;phyloP100way_vertebrate=-0.506;phyloP100way_vertebrate_rankscore=0.064;phyloP20way_mammalian=-1.449;phyloP20way_mammalian_rankscore=0.011;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=5.480;SiPhy_29way_logOdds_rankscore=0.159;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.826e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0002;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=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-76.5827,0,-126.566:132:66:66:2369:2388:66,66 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179519303 . T C 71.00 . AB=0;ABP=0;AC=0;AF=0;AN=2;AO=8;CIGAR=1X;DP=40;DPB=40;DPRA=0;EPP=4.09604;EPPR=4.09604;GTI=0;LEN=1;MEANALT=1;MQM=5.375;MQMR=1.78125;NS=1;NUMALT=1;ODDS=16.3491;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=302;QR=1185;RO=32;RPL=5;RPP=4.09604;RPPR=64.083;RPR=3;RUN=1;SAF=4;SAP=3.0103;SAR=4;SF=12;SRF=19;SRP=5.45321;SRR=13;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149494189;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;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=0.0045;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0194;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0022;ExAC_nontcga_OTH=0.0109;ExAC_nontcga_SAS=0.0013;AF=0.0178;AF_popmax=0.0273;AF_male=0.0188;AF_female=0.0166;AF_raw=0.0550;AF_afr=0.0246;AF_sas=.;AF_amr=0.0082;AF_eas=0.0273;AF_nfe=0.0163;AF_fin=0.0117;AF_asj=0.0087;AF_oth=0.0147;non_topmed_AF_popmax=0.0277;non_neuro_AF_popmax=0.0273;non_cancer_AF_popmax=.;controls_AF_popmax=0.0263;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/0:0,-8.11889,-1.19592:40:32:8:302:1185:32,8 . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179527399 . T A 28.95 . AB=0;ABP=0;AC=0;AF=0;AN=2;AO=2;CIGAR=1X;DP=9;DPB=9;DPRA=0;EPP=3.0103;EPPR=18.2106;GTI=0;LEN=1;MEANALT=1;MQM=6.5;MQMR=5.28571;NS=1;NUMALT=1;ODDS=6.66367;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=31;QR=267;RO=7;RPL=1;RPP=3.0103;RPPR=18.2106;RPR=1;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=24;SRF=7;SRP=18.2106;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=MIR548N;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/0:0,-1.55105,-2.22352:9:7:2:31:267:7,2 . . . . . . . . . . . . +chr2 179528038 . A C 709.24 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=51;CIGAR=1X;DP=51;DPB=51;DPRA=0;EPP=10.206;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=19.1961;MQMR=0;NS=1;NUMALT=1;ODDS=75.3062;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1783;QR=0;RO=0;RPL=16;RPP=18.3809;RPPR=0;RPR=35;RUN=1;SAF=42;SAP=49.3776;SAR=9;SF=12;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_001267550:exon173:c.T36655G:p.L12219V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12994774;CLNALLELEID=221130;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=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=0.1;FATHMM_converted_rankscore=0.614;FATHMM_pred=T;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=0.032;VEST3_rankscore=0.012;MetaSVM_score=-0.980;MetaSVM_rankscore=0.351;MetaSVM_pred=T;MetaLR_score=0.032;MetaLR_rankscore=0.135;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=-1.764;CADD_raw_rankscore=0.012;CADD_phred=0.002;DANN_score=0.630;DANN_rankscore=0.069;fathmm-MKL_coding_score=0.003;fathmm-MKL_coding_rankscore=0.016;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-2.273;Eigen-PC-raw=-2.334;GenoCanyon_score=0.003;GenoCanyon_score_rankscore=0.100;integrated_fitCons_score=0.554;integrated_fitCons_score_rankscore=0.246;integrated_confidence_value=0;GERP++_RS=-4.3;GERP++_RS_rankscore=0.034;phyloP100way_vertebrate=-4.205;phyloP100way_vertebrate_rankscore=0.003;phyloP20way_mammalian=-2.936;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=4.794;SiPhy_29way_logOdds_rankscore=0.125;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0134;ExAC_nontcga_AFR=0.0145;ExAC_nontcga_AMR=0.0126;ExAC_nontcga_EAS=0.0179;ExAC_nontcga_FIN=0.0064;ExAC_nontcga_NFE=0.0057;ExAC_nontcga_OTH=0.0147;ExAC_nontcga_SAS=0.0468;AF=0.1658;AF_popmax=0.3254;AF_male=0.1668;AF_female=0.1647;AF_raw=0.2277;AF_afr=0.2040;AF_sas=.;AF_amr=0.2681;AF_eas=0.3254;AF_nfe=0.1269;AF_fin=0.1831;AF_asj=0.1667;AF_oth=0.1725;non_topmed_AF_popmax=0.3202;non_neuro_AF_popmax=0.3254;non_cancer_AF_popmax=.;controls_AF_popmax=0.3131;Kaviar_AF=0.057813;Kaviar_AC=8938;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.137234;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 1/1:-80.9576,-15.3525,0:51:0:51:1783:0:0,51 . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179528068 . C A 81.86 . AB=0.470588;ABP=3.90444;AC=1;AF=0.5;AN=2;AO=56;CIGAR=1X;DP=119;DPB=119;DPRA=0;EPP=10.6105;EPPR=3.872;GTI=0;LEN=1;MEANALT=1;MQM=10.4643;MQMR=12.0635;NS=1;NUMALT=1;ODDS=18.8496;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2102;QR=2277;RO=63;RPL=31;RPP=4.40625;RPPR=3.32051;RPR=25;RUN=1;SAF=32;SAP=5.49198;SAR=24;SF=10;SRF=36;SRP=5.80219;SRR=27;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-15.4703,0,-30.4326:119:63:56:2102:2277:63,56 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179539903 . C A 1221.93 . AB=0.544118;ABP=4.1599;AC=6;AF=0.5;AN=10;AO=37;CIGAR=1X;DP=360;DPB=68;DPRA=0;EPP=3.06899;EPPR=3.64073;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.4194;NS=1;NUMALT=1;ODDS=161.921;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1396;QR=1170;RO=31;RPL=33;RPP=52.3673;RPPR=40.0654;RPR=4;RUN=1;SAF=14;SAP=7.76406;SAR=23;SF=5,9,12,20,25;SRF=13;SRP=4.76149;SRR=18;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-100.324,0,-80.2109:68:31:37:1396:1170:31,37 . . . 0/1:-51.2782,0,-21.8877:28:10:18:687:344:10,18 . . 1/1:-244.443,-22.2762,0:74:0:74:2828:0:0,74 . . . . . . . 0/1:-136.134,0,-79.6061:80:32:48:1858:1194:32,48 . . . . 0/1:-131.498,0,-158.442:110:60:50:1901:2207:60,50 . . . . . . . . . . . +chr2 179541899 . C G 54.47 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=75;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=25;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-6.6513,-0.60206,0:3:0:2:75:0:0,2 . . . . . . . . . . . +chr2 179543217 . C T 1832.62 . AB=0.560606;ABP=5.11597;AC=6;AF=0.5;AN=10;AO=37;CIGAR=1X;DP=519;DPB=66;DPRA=0;EPP=7.76406;EPPR=10.7656;GTI=0;LEN=1;MEANALT=2;MQM=41.9459;MQMR=42;NS=1;NUMALT=1;ODDS=150.164;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1409;QR=1057;RO=28;RPL=22;RPP=5.88603;RPPR=5.80219;RPR=15;RUN=1;SAF=22;SAP=5.88603;SAR=15;SF=5,9,12,20,25;SRF=14;SRP=3.0103;SRR=14;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-102.205,0,-72.0009:66:28:37:1409:1057:28,37 . . . 0/1:-93.7281,0,-80.6857:67:32:35:1310:1154:32,35 . . 1/1:-376.055,-34.9195,0:116:0:116:4355:0:0,116 . . . . . . . 0/1:-147.158,0,-102.585:97:42:55:2056:1532:42,55 . . . . 0/1:-233.725,0,-196.561:173:81:92:3322:2862:81,92 . . . . . . . . . . . +chr2 179544685 . CTCTTCTTCTTCTTCTA CTCTTCTTCTTCTTCTTCTA 1469.54 . AB=0.542857;ABP=4.68544;AC=1;AF=0.5;AN=2;AO=57;CIGAR=1M3I16M;DP=105;DPB=115.412;DPRA=0;EPP=3.0484;EPPR=4.27278;GTI=0;LEN=3;MEANALT=6;MQM=41.9298;MQMR=42;NS=1;NUMALT=1;ODDS=238.89;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2116;QR=1605;RO=43;RPL=27;RPP=3.35316;RPPR=3.0608;RPR=30;RUN=1;SAF=36;SAP=11.5819;SAR=21;SF=24;SRF=24;SRP=4.27278;SRR=19;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_insertion;AAChange.refGene=TTN:NM_133378:exon137:c.29783_29784insAGA:p.E9928delinsEE,TTN:NM_001256850:exon138:c.32564_32565insAGA:p.E10855delinsEE,TTN:NM_001267550:exon140:c.33515_33516insAGA:p.E11172delinsEE;1000g2015aug_all=0.00459265;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368327166;CLNALLELEID=56054;CLNDN=Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|Paroxysmal_familial_ventricular_fibrillation_1|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:C2751898,OMIM:603829|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=0.0168;ExAC_nontcga_ALL=0.0105;ExAC_nontcga_AFR=0.0034;ExAC_nontcga_AMR=0.0035;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0124;ExAC_nontcga_NFE=0.0160;ExAC_nontcga_OTH=0.0159;ExAC_nontcga_SAS=0.0047;AF=0.0118;AF_popmax=0.0174;AF_male=0.0113;AF_female=0.0124;AF_raw=0.0118;AF_afr=0.0034;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0174;AF_fin=0.0152;AF_asj=0.0034;AF_oth=0.0129;non_topmed_AF_popmax=0.0175;non_neuro_AF_popmax=0.0169;non_cancer_AF_popmax=.;controls_AF_popmax=0.0143;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=Name\x3dOREG1678488|N/A|GATA2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.896541;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-153.345,0,-109.32:105:43:57:2116:1605:43,57 . . . . . . . . . . . . +chr2 179545859 . C T 1509.63 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=83;CIGAR=1X;DP=699;DPB=83;DPRA=0;EPP=4.29225;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9759;MQMR=0;NS=1;NUMALT=1;ODDS=119.668;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3076;QR=0;RO=0;RPL=35;RPP=7.43173;RPPR=0;RPR=48;RUN=1;SAF=41;SAP=3.03646;SAR=42;SF=3,5,6,10,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-265.838,-24.9855,0:83:0:83:3076:0:0,83 . 0/1:-152.158,0,-102.306:98:43:55:2119:1531:43,55 0/1:-73.0701,0,-85.3643:60:32:28:1049:1193:32,28 . . . 0/1:-94.8156,0,-79.9445:66:30:36:1322:1154:30,36 . . . . . . . . . . . . . 0/1:-94.9426,0,-72.6347:65:29:35:1321:1061:29,35 0/1:-234.829,0,-219.85:176:85:89:3346:3161:85,89 . 0/1:-185.097,0,-196.217:151:78:72:2691:2808:78,72 . . . . . . . . . +chr2 179547455 . T C 4654.99 . AB=0.526882;ABP=5.34522;AC=1;AF=0.5;AN=2;AO=196;CIGAR=1X;DP=372;DPB=372;DPRA=0;EPP=20.7366;EPPR=7.94546;GTI=0;LEN=1;MEANALT=1;MQM=41.8418;MQMR=41.8466;NS=1;NUMALT=1;ODDS=992.357;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6867;QR=6452;RO=176;RPL=54;RPP=88.8056;RPPR=60.0608;RPR=142;RUN=1;SAF=122;SAP=28.5362;SAR=74;SF=27;SRF=110;SRP=26.8965;SRR=66;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-485.133,0,-446.066:372:176:196:6867:6452:176,196 . . . . . . . . . +chr2 179548694 . GATTTTTTTTTTTTTTTTAAGAG GATTTTTTTTTTTTTTTAAGAG 257.32 . AB=0.342857;ABP=10.5174;AC=1;AF=0.5;AN=2;AO=12;CIGAR=2M1D20M;DP=35;DPB=33.9565;DPRA=0;EPP=9.52472;EPPR=6.48466;GTI=0;LEN=1;MEANALT=9;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=45.0085;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=424;QR=352;RO=10;RPL=5;RPP=3.73412;RPPR=3.0103;RPR=7;RUN=1;SAF=8;SAP=5.9056;SAR=4;SF=24;SRF=8;SRP=10.8276;SRR=2;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372078760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4522;ExAC_nontcga_AFR=0.4170;ExAC_nontcga_AMR=0.4591;ExAC_nontcga_EAS=0.4603;ExAC_nontcga_FIN=0.4794;ExAC_nontcga_NFE=0.4598;ExAC_nontcga_OTH=0.4509;ExAC_nontcga_SAS=0.4226;AF=0.1152;AF_popmax=0.1480;AF_male=0.1135;AF_female=0.1175;AF_raw=0.1089;AF_afr=0.0337;AF_sas=.;AF_amr=0.1419;AF_eas=0.0009;AF_nfe=0.1480;AF_fin=0.3123;AF_asj=0.1271;AF_oth=0.1677;non_topmed_AF_popmax=0.1656;non_neuro_AF_popmax=0.1358;non_cancer_AF_popmax=.;controls_AF_popmax=0.3472;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-30.4909,0,-24.3018:35:10:12:424:352:10,12 . . . . . . . . . . . . +chr2 179548695 . ATTTTTTTTTTTTTTTTAAGAG ATTTTTTTTTTTTTTTAAGAG,ATTTTTTTTTTTTTTTTTAAGAG 275.27 . AB=0.257143;ABP=38.8706;AC=10,1;AF=0.5;AN=22;AO=18;CIGAR=1M1D20M;DP=1028;DPB=69.5455;DPRA=0;EPP=7.35324;EPPR=10.9724;GTI=0;LEN=1;MEANALT=12;MQM=41.8889;MQMR=41.5152;NS=1;NUMALT=1;ODDS=71.5871;PAIRED=1;PAIREDR=0.909091;PAO=0.25;PQA=9.5;PQR=9.5;PRO=0.25;QA=627;QR=1146;RO=33;RPL=6;RPP=7.35324;RPPR=14.1309;RPR=12;RUN=1;SAF=10;SAP=3.49285;SAR=8;SF=3,5,6,9,10,12,16,20,21,25,27;SRF=21;SRP=8.34028;SRR=12;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs372078760;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.4522;ExAC_nontcga_AFR=0.4170;ExAC_nontcga_AMR=0.4591;ExAC_nontcga_EAS=0.4603;ExAC_nontcga_FIN=0.4794;ExAC_nontcga_NFE=0.4598;ExAC_nontcga_OTH=0.4509;ExAC_nontcga_SAS=0.4226;AF=0.1152;AF_popmax=0.1480;AF_male=0.1135;AF_female=0.1175;AF_raw=0.1089;AF_afr=0.0337;AF_sas=.;AF_amr=0.1419;AF_eas=0.0009;AF_nfe=0.1480;AF_fin=0.3123;AF_asj=0.1271;AF_oth=0.1677;non_topmed_AF_popmax=0.1656;non_neuro_AF_popmax=0.1358;non_cancer_AF_popmax=.;controls_AF_popmax=0.3472;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs752765827;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0400;ExAC_nontcga_AFR=0.0773;ExAC_nontcga_AMR=0.0334;ExAC_nontcga_EAS=0.0342;ExAC_nontcga_FIN=0.0186;ExAC_nontcga_NFE=0.0316;ExAC_nontcga_OTH=0.0415;ExAC_nontcga_SAS=0.0668;AF=0.0220;AF_popmax=0.0542;AF_male=0.0215;AF_female=0.0227;AF_raw=0.0219;AF_afr=0.0542;AF_sas=.;AF_amr=0.0140;AF_eas=0.0009;AF_nfe=0.0067;AF_fin=0.0176;AF_asj=0.0381;AF_oth=0.0138;non_topmed_AF_popmax=0.0541;non_neuro_AF_popmax=0.0539;non_cancer_AF_popmax=.;controls_AF_popmax=0.0549;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-38.074,0,-83.9269,.,.,.:70:33:18,.:627,.:1146:33,18 . 0/1:-21.2259,0,-114.282,.,.,.:78:43:14,.:454,.:1523:43,14 0/1:-17.8242,0,-62.2334,.,.,.:46:24:11,.:322,.:827:24,11 . . 0/2:-22.7589,.,.,0,.,-62.5873:60:24:.,13:.,385:840:24,13 0/1:-29.541,0,-115.709,.,.,.:75:43:18,.:560,.:1535:43,18 . 0/1:-40.5268,0,-176.582,.,.,.:105:65:23,.:766,.:2332:65,23 . . . 0/1:-36.6258,0,-102.434,.,.,.:91:42:23,.:661,.:1479:42,23 . . . 0/1:-27.0131,0,-176.725,.,.,.:102:66:20,.:614,.:2349:66,20 0/1:-33.7927,0,-84.218,.,.,.:74:33:17,.:557,.:1147:33,17 . . . 0/1:-63.5339,0,-208.836,.,.,.:173:79:39,.:1144,.:2811:79,39 . 0/1:-79.7511,0,-210.282,.,.,.:154:81:42,.:1342,.:2867:81,42 . . . . . . . . . +chr2 179549048 . C T 2427.91 . AB=0.502058;ABP=3.01924;AC=1;AF=0.5;AN=2;AO=122;CIGAR=1X;DP=243;DPB=243;DPRA=0;EPP=105.817;EPPR=86.6844;GTI=0;LEN=1;MEANALT=2;MQM=41.9672;MQMR=41.8333;NS=1;NUMALT=1;ODDS=559.047;PAIRED=0.991803;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4181;QR=4281;RO=120;RPL=10;RPP=188.191;RPPR=176.8;RPR=112;RUN=1;SAF=97;SAP=95.2801;SAR=25;SF=25;SRF=101;SRP=124.685;SRR=19;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-291.69,0,-299.107:243:120:122:4181:4281:120,122 . . . . . . . . . . . +chr2 179554002 . A C 1843.09 . AB=0.547445;ABP=5.68898;AC=1;AF=0.5;AN=2;AO=75;CIGAR=1X;DP=137;DPB=137;DPRA=0;EPP=5.35549;EPPR=5.25182;GTI=0;LEN=1;MEANALT=1;MQM=41.24;MQMR=41.371;NS=1;NUMALT=1;ODDS=344.609;PAIRED=0.986667;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=2709;QR=2320;RO=62;RPL=36;RPP=3.27088;RPPR=3.57068;RPR=39;RUN=1;SAF=48;SAP=15.7786;SAR=27;SF=9;SRF=38;SRP=9.87495;SRR=24;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs886055285;CLNALLELEID=286275;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|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:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-192.388,0,-157.041:137:62:75:2709:2320:62,75 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179554305 . C T 2528.88 . AB=0;ABP=0;AC=8;AF=1;AN=14;AO=133;CIGAR=1X;DP=1232;DPB=134;DPRA=0;EPP=5.76954;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.5865;MQMR=24;NS=1;NUMALT=1;ODDS=184.418;PAIRED=0.992481;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4866;QR=14;RO=1;RPL=79;RPP=13.2146;RPPR=5.18177;RPR=54;RUN=1;SAF=70;SAP=3.81032;SAR=63;SF=3,5,6,10,24,25,27;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-416.796,-38.9778,0:134:1:133:4866:14:1,133 . 0/1:-286.251,0,-152.075:168:63:105:3952:2356:63,105 0/1:-120.169,0,-199.145:122:72:50:1809:2727:72,50 . . . 0/1:-144.509,0,-155.516:119:62:57:2078:2230:62,57 . . . . . . . . . . . . . 0/1:-121.205,0,-141.645:101:54:47:1750:1986:54,47 0/1:-394.627,0,-401.054:307:154:153:5636:5709:154,153 . 0/1:-337.457,0,-379.16:281:148:132:4888:5361:148,132 . . . . . . . . . +chr2 179558366 . T C 3222.72 . AB=0.518987;ABP=3.50507;AC=6;AF=0.5;AN=10;AO=82;CIGAR=1X;DP=907;DPB=158;DPRA=0;EPP=11.5903;EPPR=8.61041;GTI=0;LEN=1;MEANALT=1;MQM=41.7073;MQMR=41.75;NS=1;NUMALT=1;ODDS=442.065;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3004;QR=2889;RO=76;RPL=43;RPP=3.434;RPPR=3.12459;RPR=39;RUN=1;SAF=55;SAP=23.7717;SAR=27;SF=5,9,12,20,25;SRF=52;SRP=25.4108;SRR=24;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-212.864,0,-201.183:158:76:82:3004:2889:76,82 . . . 0/1:-163.306,0,-110.94:104:43:61:2244:1643:43,61 . . 1/1:-672.723,-62.6142,0:208:0:208:7773:0:0,208 . . . . . . . 0/1:-289.405,0,-161.983:175:69:106:3951:2481:69,106 . . . . 0/1:-332.444,0,-345.15:262:134:128:4747:4899:134,128 . . . . . . . . . . . +chr2 179563643 . TAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG TAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG 328.58 . AB=0.269231;ABP=39.0901;AC=1;AF=0.5;AN=2;AO=21;CIGAR=1M1D39M;DP=78;DPB=76.6829;DPRA=0;EPP=15.5221;EPPR=21.1059;GTI=0;LEN=1;MEANALT=30;MQM=41.9048;MQMR=40.1667;NS=1;NUMALT=1;ODDS=16.7177;PAIRED=1;PAIREDR=0.916667;PAO=2;PQA=36.25;PQR=36.25;PRO=2;QA=680;QR=412;RO=12;RPL=9;RPP=3.94093;RPPR=5.9056;RPR=12;RUN=1;SAF=10;SAP=3.1137;SAR=11;SF=12;SRF=3;SRP=9.52472;SRR=9;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368277751;CLNALLELEID=284061;CLNDN=Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|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:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352;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=0.3417;ExAC_nontcga_AFR=0.2048;ExAC_nontcga_AMR=0.3693;ExAC_nontcga_EAS=0.3836;ExAC_nontcga_FIN=0.3437;ExAC_nontcga_NFE=0.2732;ExAC_nontcga_OTH=0.3529;ExAC_nontcga_SAS=0.4071;AF=0.0187;AF_popmax=0.0970;AF_male=0.0205;AF_female=0.0165;AF_raw=0.0173;AF_afr=0.0042;AF_sas=.;AF_amr=0.0970;AF_eas=0.0011;AF_nfe=0.0176;AF_fin=0.1850;AF_asj=0.0786;AF_oth=0.0509;non_topmed_AF_popmax=0.1032;non_neuro_AF_popmax=0.0580;non_cancer_AF_popmax=.;controls_AF_popmax=0.2955;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-39.8826,0,-15.3653:78:12:21:680:412:12,21 . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179567398 . A C 2342.85 . AB=0.614379;ABP=20.3963;AC=1;AF=0.5;AN=2;AO=94;CIGAR=1X;DP=153;DPB=153;DPRA=0;EPP=3.1027;EPPR=3.0471;GTI=0;LEN=1;MEANALT=1;MQM=41.9574;MQMR=41.678;NS=1;NUMALT=1;ODDS=301.689;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3460;QR=2218;RO=59;RPL=78;RPP=91.8097;RPPR=33.963;RPR=16;RUN=1;SAF=32;SAP=23.801;SAR=62;SF=10;SRF=15;SRP=33.963;SRR=44;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00339457;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650010;CLNALLELEID=55995;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=0.0053;dbscSNV_RF_SCORE=0.39;esp6500siv2_ea=0.0012;ExAC_nontcga_ALL=0.0042;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0011;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0003;ExAC_nontcga_NFE=0.0024;ExAC_nontcga_OTH=0.0076;ExAC_nontcga_SAS=0.0189;AF=0.0007;AF_popmax=0.0008;AF_male=0.0009;AF_female=0.0005;AF_raw=0.0007;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0008;AF_fin=0.0003;AF_asj=0.0138;AF_oth=0.0009;non_topmed_AF_popmax=0.0005;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0005;Kaviar_AF=0.0033311;Kaviar_AC=515;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.181363;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-254.127,0,-145.264:153:59:94:3460:2218:59,94 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179571423 . G T 2081.41 . AB=0.548387;ABP=6.16244;AC=1;AF=0.5;AN=2;AO=85;CIGAR=1X;DP=155;DPB=155;DPRA=0;EPP=3.64897;EPPR=7.47733;GTI=0;LEN=1;MEANALT=1;MQM=41.6;MQMR=41.9714;NS=1;NUMALT=1;ODDS=375.121;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3093;QR=2514;RO=70;RPL=62;RPP=41.8669;RPPR=20.8784;RPR=23;RUN=1;SAF=36;SAP=7.3277;SAR=49;SF=0;SRF=32;SRP=4.12706;SRR=38;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon99:c.C25446A:p.I8482I,TTN:NM_001256850:exon100:c.C28227A:p.I9409I,TTN:NM_001267550:exon102:c.C29178A:p.I9726I;1000g2015aug_all=0.0101837;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72650003;CLNALLELEID=55984;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=0.0026;ExAC_nontcga_ALL=0.0062;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0004;ExAC_nontcga_EAS=0.0424;ExAC_nontcga_FIN=0.0098;ExAC_nontcga_NFE=0.0036;ExAC_nontcga_OTH=0.0087;ExAC_nontcga_SAS=0.0029;AF=0.0054;AF_popmax=0.0501;AF_male=0.0054;AF_female=0.0055;AF_raw=0.0054;AF_afr=0.0006;AF_sas=.;AF_amr=0;AF_eas=0.0501;AF_nfe=0.0032;AF_fin=0.0089;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.05;non_neuro_AF_popmax=0.0501;non_cancer_AF_popmax=.;controls_AF_popmax=0.0513;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\x3d97.451661;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-219.316,0,-171.836:155:70:85:3093:2514:70,85 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179575511 . C T 9374.60 . AB=0.495238;ABP=3.15506;AC=1;AF=0.5;AN=2;AO=364;CIGAR=1X;DP=735;DPB=735;DPRA=0;EPP=53.503;EPPR=41.6201;GTI=0;LEN=1;MEANALT=3;MQM=41.7802;MQMR=41.8103;NS=1;NUMALT=1;ODDS=2158.58;PAIRED=0.991758;PAIREDR=0.99458;PAO=0;PQA=0;PQR=0;PRO=0;QA=13616;QR=13807;RO=369;RPL=207;RPP=17.9243;RPPR=56.1202;RPR=157;RUN=1;SAF=191;SAP=4.94315;SAR=173;SF=12;SRF=190;SRP=3.72235;SRR=179;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-951.91,0,-968.211:735:369:364:13616:13807:369,364 . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179578108 . TACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT TACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT,AACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT 2107.04 . AB=0.420455;ABP=7.84676;AC=3,1;AF=0.5;AN=6;AO=37;CIGAR=1M5I49M;DP=324;DPB=94.24;DPRA=0;EPP=5.88603;EPPR=11.961;GTI=0;LEN=5;MEANALT=7;MQM=41.3514;MQMR=42;NS=1;NUMALT=1;ODDS=216.662;PAIRED=1;PAIREDR=0.97561;PAO=13.5;PQA=446.5;PQR=39.5;PRO=1.5;QA=1303;QR=1518;RO=41;RPL=19;RPP=3.06899;RPPR=7.30028;RPR=18;RUN=1;SAF=6;SAP=39.6906;SAR=31;SF=5,12,20;SRF=11;SRP=22.1298;SRR=30;TYPE=ins;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=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200821070;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;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=0.056;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-118.609,0,-103.151,.,.,.:88:41:37,.:1303,.:1518:41,37 . . . . . . 1/2:-442.269,-83.0788,-37.6233,-363.491,0,-348.91:125:0:102,15:3476,580:0:0,102,15 . . . . . . . 0/1:-140.278,0,-142.327,.,.,.:111:54:45,.:1637,.:2017:54,45 . . . . . . . . . . . . . . . . +chr2 179578730 . G A 10413.88 . AB=0.551363;ABP=13.9405;AC=4;AF=0.5;AN=6;AO=263;CIGAR=1X;DP=1594;DPB=477;DPRA=0;EPP=26.2029;EPPR=20.9097;GTI=0;LEN=1;MEANALT=1;MQM=41.9696;MQMR=41.9112;NS=1;NUMALT=1;ODDS=1202.88;PAIRED=0.980989;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10003;QR=7901;RO=214;RPL=61;RPP=167.159;RPPR=88.8951;RPR=202;RUN=1;SAF=132;SAP=3.01856;SAR=131;SF=5,12,20;SRF=115;SRP=5.60795;SRR=99;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-719.42,0,-541.609:477:214:263:10003:7901:214,263 . . . . . . 1/1:-1731.32,-159.617,0:536:1:534:20071:17:1,534 . . . . . . . 0/1:-783.011,0,-726.783:581:285:296:11092:10428:285,296 . . . . . . . . . . . . . . . . +chr2 179579093 . T C 9096.93 . AB=0.474886;ABP=5.40983;AC=4;AF=0.5;AN=6;AO=208;CIGAR=1X;DP=1366;DPB=438;DPRA=0;EPP=4.51363;EPPR=39.3022;GTI=0;LEN=1;MEANALT=1;MQM=41.8942;MQMR=41.9913;NS=1;NUMALT=1;ODDS=1227.19;PAIRED=0.990385;PAIREDR=0.995652;PAO=0;PQA=0;PQR=0;PRO=0;QA=7780;QR=8619;RO=230;RPL=102;RPP=3.17734;RPPR=34.7704;RPR=106;RUN=1;SAF=110;SAP=4.51363;SAR=98;SF=5,12,20;SRF=124;SRP=6.06924;SRR=106;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-540.709,0,-613.354:438:230:208:7780:8619:230,208 . . . . . . 1/1:-1574.99,-139.328,0:496:3:493:18395:111:3,493 . . . . . . . 0/1:-637.667,0,-503.763:432:196:235:8900:7342:196,235 . . . . . . . . . . . . . . . . +chr2 179579212 . T C 5537.72 . AB=0.45977;ABP=6.67934;AC=4;AF=0.5;AN=6;AO=120;CIGAR=1X;DP=866;DPB=261;DPRA=0;EPP=7.64277;EPPR=31.4858;GTI=0;LEN=1;MEANALT=1;MQM=41.65;MQMR=41.8723;NS=1;NUMALT=1;ODDS=671.094;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4404;QR=5277;RO=141;RPL=79;RPP=29.1404;RPPR=89.6382;RPR=41;RUN=1;SAF=59;SAP=3.08268;SAR=61;SF=5,12,20;SRF=48;SRP=34.1963;SRR=93;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-301.644,0,-377.521:261:141:120:4404:5277:141,120 . . . . . . 1/1:-1001.27,-94.0773,0:318:1:316:11603:15:1,316 . . . . . . . 0/1:-430.79,0,-311.068:287:123:163:5985:4602:123,163 . . . . . . . . . . . . . . . . +chr2 179579786 . G A 6009.19 . AB=0.462998;ABP=9.27749;AC=1;AF=0.5;AN=2;AO=244;CIGAR=1X;DP=527;DPB=527;DPRA=0;EPP=28.9612;EPPR=15.9087;GTI=0;LEN=1;MEANALT=1;MQM=41.627;MQMR=41.8657;NS=1;NUMALT=1;ODDS=1383.67;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8952;QR=10440;RO=283;RPL=133;RPP=7.31765;RPPR=15.9087;RPR=111;RUN=1;SAF=142;SAP=17.2495;SAR=102;SF=25;SRF=158;SRP=11.3662;SRR=125;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon87:c.C22395T:p.D7465D,TTN:NM_001256850:exon88:c.C25176T:p.D8392D,TTN:NM_001267550:exon90:c.C26127T:p.D8709D;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\x3d96.717725;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-613.341,0,-741.25:527:283:244:8952:10440:283,244 . . . . . . . . . . . +chr2 179579822 . T A 8806.88 . AB=0.581047;ABP=25.8893;AC=4;AF=0.5;AN=6;AO=233;CIGAR=1X;DP=1329;DPB=401;DPRA=0;EPP=37.6886;EPPR=3.12874;GTI=0;LEN=1;MEANALT=2;MQM=41.6223;MQMR=41.8909;NS=1;NUMALT=1;ODDS=928.263;PAIRED=0.991416;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8783;QR=6173;RO=165;RPL=104;RPP=8.83507;RPPR=5.9714;RPR=129;RUN=1;SAF=116;SAP=3.01962;SAR=117;SF=5,12,20;SRF=82;SRP=3.02346;SRR=83;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-633.144,0,-412.997:401:165:233:8783:6173:165,233 . . . . . . 1/1:-1524.4,-142.086,0:474:0:472:17667:0:0,472 . . . . . . . 0/1:-518.442,0,-685.029:454:250:203:7605:9522:250,203 . . . . . . . . . . . . . . . . +chr2 179582327 . C T 9451.29 . AB=0.473002;ABP=5.94155;AC=4;AF=0.5;AN=6;AO=219;CIGAR=1X;DP=1518;DPB=463;DPRA=0;EPP=15.1567;EPPR=15.2438;GTI=0;LEN=1;MEANALT=2;MQM=41.9817;MQMR=41.9918;NS=1;NUMALT=1;ODDS=1211.74;PAIRED=0.990868;PAIREDR=0.995885;PAO=0;PQA=0;PQR=0;PRO=0;QA=7917;QR=8789;RO=243;RPL=62;RPP=92.4968;RPPR=101.531;RPR=157;RUN=1;SAF=141;SAP=42.3645;SAR=78;SF=5,12,20;SRF=159;SRP=53.2759;SRR=84;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-548.152,0,-623.992:463:243:219:7917:8789:243,219 . . . . . . 1/1:-1770.73,-165.874,0:556:1:555:20445:15:1,555 . . . . . . . 0/1:-613.496,0,-664.519:499:260:239:8837:9384:260,239 . . . . . . . . . . . . . . . . +chr2 179582537 . G T 3741.14 . AB=0.523316;ABP=3.92164;AC=4;AF=0.5;AN=6;AO=101;CIGAR=1X;DP=600;DPB=193;DPRA=0;EPP=3.0318;EPPR=3.86001;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=523.156;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3740;QR=3422;RO=92;RPL=68;RPP=29.3475;RPPR=30.2953;RPR=33;RUN=1;SAF=32;SAP=32.4434;SAR=69;SF=5,12,20;SRF=30;SRP=27.1797;SRR=62;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-266.169,0,-239.066:193:92:101:3740:3422:92,101 . . . . . . 1/1:-651.709,-62.9153,0:210:0:209:7495:0:0,209 . . . . . . . 0/1:-257.508,0,-229.39:197:92:103:3678:3318:92,103 . . . . . . . . . . . . . . . . +chr2 179583317 . G A 1520.02 . AB=0.476923;ABP=3.61163;AC=1;AF=0.5;AN=2;AO=62;CIGAR=1X;DP=130;DPB=130;DPRA=0;EPP=4.27115;EPPR=6.93191;GTI=0;LEN=1;MEANALT=2;MQM=41.4194;MQMR=42;NS=1;NUMALT=1;ODDS=349.997;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2288;QR=2554;RO=67;RPL=29;RPP=3.57068;RPPR=3.82055;RPR=33;RUN=1;SAF=31;SAP=3.0103;SAR=31;SF=9;SRF=42;SRP=12.3768;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-158.365,0,-181.678:130:67:62:2288:2554:67,62 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179583496 . T G 9224.37 . AB=0.462121;ABP=7.94546;AC=4;AF=0.5;AN=6;AO=183;CIGAR=1X;DP=1374;DPB=396;DPRA=0;EPP=3.97144;EPPR=7.10742;GTI=0;LEN=1;MEANALT=2;MQM=41.7814;MQMR=41.8962;NS=1;NUMALT=1;ODDS=1060.28;PAIRED=1;PAIREDR=0.985849;PAO=0;PQA=0;PQR=0;PRO=0;QA=6848;QR=8002;RO=212;RPL=62;RPP=44.3157;RPPR=53.2;RPR=121;RUN=1;SAF=92;SAP=3.02217;SAR=91;SF=5,12,20;SRF=103;SRP=3.37904;SRR=109;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-472.3,0,-570.476:396:212:183:6848:8002:212,183 . . . . . . 1/1:-1789.68,-167.674,0:558:0:557:20778:0:0,557 . . . . . . . 0/1:-546.008,0,-550.96:420:211:209:7852:7842:211,209 . . . . . . . . . . . . . . . . +chr2 179585257 . G C 2234.25 . AB=0.542683;ABP=5.60547;AC=1;AF=0.5;AN=2;AO=89;CIGAR=1X;DP=164;DPB=164;DPRA=0;EPP=44.0243;EPPR=15.7786;GTI=0;LEN=1;MEANALT=1;MQM=41.9775;MQMR=41.92;NS=1;NUMALT=1;ODDS=430.927;PAIRED=1;PAIREDR=0.986667;PAO=0;PQA=0;PQR=0;PRO=0;QA=3311;QR=2862;RO=75;RPL=60;RPP=26.4573;RPPR=21.1059;RPR=29;RUN=1;SAF=40;SAP=4.98658;SAR=49;SF=10;SRF=29;SRP=11.3777;SRR=46;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-236.883,0,-197.653:164:75:89:3311:2862:75,89 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179585266 . C T 5502.11 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=165;CIGAR=1X;DP=2255;DPB=165;DPRA=0;EPP=37.2406;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8848;MQMR=0;NS=1;NUMALT=1;ODDS=233.344;PAIRED=0.993939;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6271;QR=0;RO=0;RPL=101;RPP=21.0269;RPPR=0;RPR=64;RUN=1;SAF=70;SAP=11.2356;SAR=95;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-540.431,-49.67,0:165:0:165:6271:0:0,165 . . 1/1:-512.13,-46.6597,0:155:0:155:5936:0:0,155 . 1/1:-514.788,-47.8638,0:159:0:159:5964:0:0,159 1/1:-361.755,-33.7154,0:112:0:112:4187:0:0,112 . . 1/1:-383.549,-35.2205,0:117:0:117:4457:0:0,117 1/1:-495.049,-46.0576,0:153:0:153:5732:0:0,153 . 1/1:-739.227,-67.7318,0:226:0:225:8563:0:0,225 . . . 1/1:-564.636,-52.0782,0:173:0:173:6546:0:0,173 . . . 1/1:-597.745,-55.6906,0:185:0:185:6953:0:0,185 1/1:-422.888,-40.338,0:135:0:134:4898:0:0,134 . . 1/1:-300.972,-27.6948,0:92:0:92:3500:0:0,92 1/1:-937.885,-86.552,0:293:1:291:10887:15:1,291 . 1/1:-935.697,-85.7995,0:290:1:289:10862:15:1,289 . . . . . . . . . +chr2 179585393 . A G 1512.43 . AB=0.666667;ABP=14.5915;AC=4;AF=0.5;AN=6;AO=32;CIGAR=1X;DP=199;DPB=48;DPRA=0;EPP=3.28173;EPPR=7.89611;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=64.415;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1167;QR=570;RO=16;RPL=14;RPP=4.09604;RPPR=3.0103;RPR=18;RUN=1;SAF=9;SAP=16.3106;SAR=23;SF=5,12,20;SRF=5;SRP=7.89611;SRR=11;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-87.0829,0,-35.1307:48:16:32:1167:570:16,32 . . . . . . 1/1:-300.098,-28.2968,0:94:0:94:3466:0:0,94 . . . . . . . 0/1:-94.1955,0,-56.0831:57:22:34:1284:842:22,34 . . . . . . . . . . . . . . . . +chr2 179587130 . C G 10479.27 . AB=0.508696;ABP=3.31242;AC=4;AF=0.5;AN=6;AO=234;CIGAR=1X;DP=1536;DPB=460;DPRA=0;EPP=6.72222;EPPR=12.8492;GTI=0;LEN=1;MEANALT=1;MQM=41.6239;MQMR=41.9115;NS=1;NUMALT=1;ODDS=1323.8;PAIRED=0.991453;PAIREDR=0.986726;PAO=0;PQA=0;PQR=0;PRO=0;QA=8641;QR=8471;RO=226;RPL=182;RPP=159.839;RPPR=106.934;RPR=52;RUN=1;SAF=113;SAP=3.60421;SAR=121;SF=5,12,20;SRF=112;SRP=3.04873;SRR=114;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-607.394,0,-593.933:460:226:234:8641:8471:226,234 . . . . . . 1/1:-1865.78,-175.5,0:584:0:583:21595:0:0,583 . . . . . . . 0/1:-762.254,0,-529.335:492:211:280:10535:7822:211,280 . . . . . . . . . . . . . . . . +chr2 179589058 . G A 5886.95 . AB=0.524775;ABP=5.3774;AC=1;AF=0.5;AN=2;AO=233;CIGAR=1X;DP=444;DPB=444;DPRA=0;EPP=5.10722;EPPR=31.9187;GTI=0;LEN=1;MEANALT=1;MQM=41.8884;MQMR=41.9716;NS=1;NUMALT=1;ODDS=1220.59;PAIRED=0.991416;PAIREDR=0.990521;PAO=0;PQA=0;PQR=0;PRO=0;QA=8656;QR=7908;RO=211;RPL=47;RPP=183.075;RPPR=88.2329;RPR=186;RUN=1;SAF=112;SAP=3.76519;SAR=121;SF=10;SRF=99;SRP=4.74954;SRR=112;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-615.653,0,-549.38:444:211:233:8656:7908:211,233 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179593270 . A G 5991.15 . AB=0.523404;ABP=5.24645;AC=1;AF=0.5;AN=2;AO=246;CIGAR=1X;DP=470;DPB=470;DPRA=0;EPP=28.7502;EPPR=25.3454;GTI=0;LEN=1;MEANALT=1;MQM=41.7561;MQMR=41.8125;NS=1;NUMALT=1;ODDS=1271.17;PAIRED=0.987805;PAIREDR=0.991071;PAO=0;PQA=0;PQR=0;PRO=0;QA=8821;QR=8325;RO=224;RPL=98;RPP=25.0781;RPPR=42.7172;RPR=148;RUN=1;SAF=182;SAP=125.919;SAR=64;SF=25;SRF=164;SRP=107.861;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-624.208,0,-576.637:470:224:246:8821:8325:224,246 . . . . . . . . . . . +chr2 179593352 . C T 3899.65 . AB=0.503333;ABP=3.03925;AC=1;AF=0.5;AN=2;AO=151;CIGAR=1X;DP=300;DPB=300;DPRA=0;EPP=4.75035;EPPR=12.1188;GTI=0;LEN=1;MEANALT=1;MQM=41.8742;MQMR=41.9866;NS=1;NUMALT=1;ODDS=875.559;PAIRED=1;PAIREDR=0.993289;PAO=0;PQA=0;PQR=0;PRO=0;QA=5660;QR=5547;RO=149;RPL=66;RPP=8.2017;RPPR=6.28937;RPR=85;RUN=1;SAF=90;SAP=15.1044;SAR=61;SF=10;SRF=87;SRP=12.1188;SRR=62;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-398.768,0,-389.291:300:149:151:5660:5547:149,151 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179593503 . G T 1852.18 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1X;DP=148;DPB=148;DPRA=0;EPP=7.23587;EPPR=3.47981;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=409.603;PAIRED=0.986486;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2744;QR=2640;RO=74;RPL=46;RPP=12.5178;RPPR=7.23587;RPR=28;RUN=1;SAF=35;SAP=3.47981;SAR=39;SF=0;SRF=38;SRP=3.12768;SRR=36;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon63:c.C15418A:p.P5140T,TTN:NM_001256850:exon64:c.C18199A:p.P6067T,TTN:NM_001267550:exon66:c.C19150A:p.P6384T;1000g2015aug_all=0.00159744;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72648953;CLNALLELEID=55818;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=0.048;SIFT_converted_rankscore=0.400;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=0.850;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=0.84;FATHMM_converted_rankscore=0.475;FATHMM_pred=T;PROVEAN_score=-4.45;PROVEAN_converted_rankscore=0.777;PROVEAN_pred=D;VEST3_score=0.254;VEST3_rankscore=0.320;MetaSVM_score=-0.171;MetaSVM_rankscore=0.784;MetaSVM_pred=T;MetaLR_score=0.330;MetaLR_rankscore=0.698;MetaLR_pred=T;M-CAP_score=0.020;M-CAP_rankscore=0.430;M-CAP_pred=T;REVEL_score=0.402;REVEL_rankscore=0.719;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.886;CADD_raw_rankscore=0.179;CADD_phred=9.983;DANN_score=0.687;DANN_rankscore=0.085;fathmm-MKL_coding_score=0.994;fathmm-MKL_coding_rankscore=0.951;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.895;Eigen-PC-raw=0.807;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=5.63;GERP++_RS_rankscore=0.861;phyloP100way_vertebrate=8.115;phyloP100way_vertebrate_rankscore=0.893;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.981;phastCons20way_mammalian_rankscore=0.494;SiPhy_29way_logOdds=20.057;SiPhy_29way_logOdds_rankscore=0.976;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=0.0022;ExAC_nontcga_ALL=0.0032;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0068;ExAC_nontcga_FIN=0.0094;ExAC_nontcga_NFE=0.0035;ExAC_nontcga_OTH=0.0062;ExAC_nontcga_SAS=0.0011;AF=0.0032;AF_popmax=0.0071;AF_male=0.0026;AF_female=0.0040;AF_raw=0.0032;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0.0071;AF_nfe=0.0031;AF_fin=0.0086;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0072;non_neuro_AF_popmax=0.0071;non_cancer_AF_popmax=.;controls_AF_popmax=0.0088;Kaviar_AF=0.0027749;Kaviar_AC=429;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d96.124419;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-192.917,0,-184.651:148:74:74:2744:2640:74,74 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179595117 . C G 2218.60 . AB=0.481818;ABP=3.32615;AC=4;AF=0.5;AN=6;AO=53;CIGAR=1X;DP=367;DPB=110;DPRA=0;EPP=12.2288;EPPR=16.763;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6667;NS=1;NUMALT=1;ODDS=289.19;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1922;QR=2077;RO=57;RPL=27;RPP=3.05127;RPPR=3.9627;RPR=26;RUN=1;SAF=36;SAP=17.8009;SAR=17;SF=5,12,20;SRF=36;SRP=11.5819;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-134.035,0,-146.246:110:57:53:1922:2077:57,53 . . . . . . 1/1:-437.408,-42.4452,0:141:0:141:5060:0:0,141 . . . . . . . 0/1:-128.872,0,-173.838:116:65:51:1885:2403:65,51 . . . . . . . . . . . . . . . . +chr2 179595372 . T C 8161.14 . AB=0.523026;ABP=5.81036;AC=1;AF=0.5;AN=2;AO=318;CIGAR=1X;DP=608;DPB=608;DPRA=0;EPP=21.4746;EPPR=27.4225;GTI=0;LEN=1;MEANALT=2;MQM=41.805;MQMR=41.9516;NS=1;NUMALT=1;ODDS=1635.99;PAIRED=1;PAIREDR=0.99308;PAO=0;PQA=0;PQR=0;PRO=0;QA=11768;QR=10563;RO=289;RPL=209;RPP=71.2956;RPPR=102.38;RPR=109;RUN=1;SAF=162;SAP=3.25613;SAR=156;SF=25;SRF=144;SRP=3.01781;SRR=145;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-832.75,0,-730.909:608:289:318:11768:10563:289,318 . . . . . . . . . . . +chr2 179597007 . T C 3219.30 . AB=0.542373;ABP=6.69076;AC=1;AF=0.5;AN=2;AO=128;CIGAR=1X;DP=236;DPB=236;DPRA=0;EPP=3.62103;EPPR=7.57648;GTI=0;LEN=1;MEANALT=2;MQM=41.6562;MQMR=41.8224;NS=1;NUMALT=1;ODDS=599.181;PAIRED=0.984375;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4697;QR=3934;RO=107;RPL=94;RPP=64.083;RPPR=15.6941;RPR=34;RUN=1;SAF=53;SAP=11.2212;SAR=75;SF=10;SRF=45;SRP=8.8753;SRR=62;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_133378:exon54:c.A12957G:p.L4319L,TTN:NM_001256850:exon55:c.A15738G:p.L5246L,TTN:NM_001267550:exon57:c.A16689G:p.L5563L;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\x3d98.248696;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-336.257,0,-269.558:236:107:128:4697:3934:107,128 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179598139 . C A 2042.47 . AB=0.33677;ABP=70.3558;AC=1;AF=0.5;AN=2;AO=98;CIGAR=1X;DP=291;DPB=291;DPRA=0;EPP=3.09893;EPPR=4.37169;GTI=0;LEN=1;MEANALT=1;MQM=41.7755;MQMR=41.9689;NS=1;NUMALT=1;ODDS=470.295;PAIRED=0;PAIREDR=0.00518135;PAO=0;PQA=0;PQR=0;PRO=0;QA=3624;QR=6981;RO=193;RPL=68;RPP=35.0063;RPPR=113.283;RPR=30;RUN=1;SAF=26;SAP=49.8964;SAR=72;SF=21;SRF=66;SRP=44.8758;SRR=127;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133378:exon51:c.G12149T:p.W4050L,TTN:NM_001256850:exon52:c.G14930T:p.W4977L,TTN:NM_001267550:exon54:c.G15881T:p.W5294L;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;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=0.998;Polyphen2_HVAR_rankscore=0.875;Polyphen2_HVAR_pred=D;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-3.96;FATHMM_converted_rankscore=0.962;FATHMM_pred=D;PROVEAN_score=-8.64;PROVEAN_converted_rankscore=0.975;PROVEAN_pred=D;VEST3_score=0.421;VEST3_rankscore=0.633;MetaSVM_score=1.066;MetaSVM_rankscore=0.985;MetaSVM_pred=D;MetaLR_score=0.972;MetaLR_rankscore=0.991;MetaLR_pred=D;M-CAP_score=0.727;M-CAP_rankscore=0.978;M-CAP_pred=D;REVEL_score=0.868;REVEL_rankscore=0.961;MutPred_score=0.902;MutPred_rankscore=0.979;CADD_raw=3.544;CADD_raw_rankscore=0.483;CADD_phred=23.1;DANN_score=0.961;DANN_rankscore=0.280;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.919;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.153;Eigen-PC-raw=1.051;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=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=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=20.188;SiPhy_29way_logOdds_rankscore=0.982;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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.468748;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-225.779,0,-518.036:291:193:98:3624:6981:193,98 . . . . . . . . . . . . . . . +chr2 179598228 . A G 2018.13 . AB=0.425926;ABP=10.7311;AC=3;AF=0.5;AN=6;AO=69;CIGAR=1X;DP=535;DPB=162;DPRA=0;EPP=72.5289;EPPR=73.366;GTI=0;LEN=1;MEANALT=2;MQM=41.942;MQMR=41.6;NS=1;NUMALT=1;ODDS=329.165;PAIRED=0.985507;PAIREDR=0.988889;PAO=0;PQA=0;PQR=0;PRO=0;QA=2357;QR=3171;RO=90;RPL=33;RPP=3.29354;RPPR=5.42305;RPR=36;RUN=1;SAF=39;SAP=5.55942;SAR=30;SF=5,12,20;SRF=48;SRP=3.87889;SRR=42;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-157.582,0,-226.456:162:90:69:2357:3171:90,69 . . . . . . 0/1:-203.198,0,-210.767:173:84:87:2947:3016:84,87 . . . . . . . 0/1:-289.499,0,-211.089:200:88:112:4031:3138:88,112 . . . . . . . . . . . . . . . . +chr2 179600563 . G A 6366.44 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=176;CIGAR=1X;DP=2573;DPB=177;DPRA=0;EPP=3.45446;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9886;MQMR=0;NS=1;NUMALT=1;ODDS=248.593;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6660;QR=0;RO=0;RPL=89;RPP=3.05965;RPPR=0;RPR=87;RUN=1;SAF=104;SAP=15.6443;SAR=72;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-575.211,-52.9813,0:177:0:176:6660:0:0,176 . . 1/1:-555.666,-50.6761,0:175:1:173:6475:19:1,173 . 1/1:-707.869,-65.3235,0:218:0:217:8225:0:0,217 1/1:-464.471,-43.0473,0:143:0:143:5414:0:0,143 . . 1/1:-473.849,-44.2514,0:147:0:147:5493:0:0,147 1/1:-689.762,-64.7215,0:215:0:215:8099:0:0,215 . 1/1:-999.613,-91.5131,0:304:0:304:11587:0:0,304 . . . 1/1:-602.172,-55.0885,0:183:0:183:6986:0:0,183 . . . 1/1:-715.939,-66.2266,0:220:0:220:8361:0:0,220 1/1:-352.467,-32.8123,0:109:0:109:4073:0:0,109 . . 1/1:-350.672,-32.2102,0:107:0:107:4060:0:0,107 1/1:-927.364,-85.7936,0:285:0:285:10765:0:0,285 . 1/1:-938.032,-87.2987,0:290:0:290:10872:0:0,290 . . . . . . . . . +chr2 179605180 . C T 10036.40 . AB=0.414868;ABP=29.2606;AC=4;AF=0.5;AN=6;AO=173;CIGAR=1X;DP=1478;DPB=417;DPRA=0;EPP=15.0726;EPPR=10.5879;GTI=0;LEN=1;MEANALT=2;MQM=41.9884;MQMR=41.9253;NS=1;NUMALT=1;ODDS=952.04;PAIRED=0.976879;PAIREDR=0.991701;PAO=0;PQA=0;PQR=0;PRO=0;QA=6353;QR=8933;RO=241;RPL=72;RPP=13.5664;RPPR=43.4574;RPR=101;RUN=1;SAF=90;SAP=3.62534;SAR=83;SF=5,12,20;SRF=118;SRP=3.23556;SRR=123;TYPE=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.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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-425.277,0,-649.05:417:241:173:6353:8933:241,173 . . . . . . 1/1:-1946.68,-181.521,0:605:0:603:22546:0:0,603 . . . . . . . 0/1:-682.219,0,-505.204:456:201:254:9512:7406:201,254 . . . . . . . . . . . . . . . . +chr2 179605725 . T C 5726.69 . AB=0.495017;ABP=3.07523;AC=2;AF=0.5;AN=4;AO=149;CIGAR=1X;DP=822;DPB=301;DPRA=0;EPP=12.1188;EPPR=5.44062;GTI=0;LEN=1;MEANALT=2;MQM=41.8389;MQMR=41.8609;NS=1;NUMALT=1;ODDS=859.101;PAIRED=0.986577;PAIREDR=0.986755;PAO=0;PQA=0;PQR=0;PRO=0;QA=5551;QR=5529;RO=151;RPL=92;RPP=20.863;RPPR=27.1841;RPR=57;RUN=1;SAF=57;SAP=20.863;SAR=92;SF=10,27;SRF=47;SRP=49.7329;SRR=104;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-390.69,0,-387.438:301:151:149:5551:5529:151,149 . . . . . . . . . . . . . . . . 0/1:-788.909,0,-562.372:521:223:298:10925:8370:223,298 . . . . . . . . . +chr2 179606538 . G A 1377.45 . AB=0.458333;ABP=4.81986;AC=1;AF=0.5;AN=2;AO=55;CIGAR=1X;DP=120;DPB=120;DPRA=0;EPP=27.6861;EPPR=23.8898;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=317.169;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2117;QR=2466;RO=65;RPL=31;RPP=4.94488;RPPR=3.04371;RPR=24;RUN=1;SAF=26;SAP=3.36563;SAR=29;SF=10;SRF=29;SRP=4.64726;SRR=36;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-146.71,0,-177.159:120:65:55:2117:2466:65,55 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179612373 . A C 2976.97 . AB=0.452107;ABP=8.21019;AC=1;AF=0.5;AN=2;AO=118;CIGAR=1X;DP=261;DPB=261;DPRA=0;EPP=4.18805;EPPR=6.00754;GTI=0;LEN=1;MEANALT=2;MQM=41.7966;MQMR=41.838;NS=1;NUMALT=1;ODDS=685.474;PAIRED=1;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=4448;QR=5285;RO=142;RPL=59;RPP=3.0103;RPPR=50.9662;RPR=59;RUN=1;SAF=58;SAP=3.08391;SAR=60;SF=10;SRF=79;SRP=6.92507;SRR=63;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-305.012,0,-377.75:261:142:118:4448:5285:142,118 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179612383 . C T 984.26 . AB=0.255411;ABP=123.043;AC=1;AF=0.5;AN=2;AO=59;CIGAR=1X;DP=231;DPB=231;DPRA=0;EPP=4.81373;EPPR=25.2805;GTI=0;LEN=1;MEANALT=1;MQM=41.678;MQMR=41.8779;NS=1;NUMALT=1;ODDS=226.634;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2203;QR=6284;RO=172;RPL=36;RPP=9.23028;RPPR=54.7216;RPR=23;RUN=1;SAF=41;SAP=22.4799;SAR=18;SF=21;SRF=99;SRP=11.5447;SRR=73;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-119.896,0,-473.883:231:172:59:2203:6284:172,59 . . . . . . . . . . . . . . . +chr2 179613179 . G A 1146.45 . AB=0.430894;ABP=8.11238;AC=1;AF=0.5;AN=2;AO=53;CIGAR=1X;DP=123;DPB=123;DPRA=0;EPP=14.851;EPPR=4.99565;GTI=0;LEN=1;MEANALT=1;MQM=41.6415;MQMR=40.9714;NS=1;NUMALT=1;ODDS=263.979;PAIRED=1;PAIREDR=0.928571;PAO=0;PQA=0;PQR=0;PRO=0;QA=1858;QR=2548;RO=70;RPL=18;RPP=14.851;RPPR=18.0245;RPR=35;RUN=1;SAF=33;SAP=9.93443;SAR=20;SF=3;SRF=43;SRP=10.9517;SRR=27;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_133379:exon46:c.C13948T:p.P4650S;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149748934;CLNALLELEID=56929;CLNDN=Distal_myopathy_Markesbery-Griggs_type|not_specified|not_provided;CLNDISDB=MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|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=0.0;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=0.48;FATHMM_converted_rankscore=0.560;FATHMM_pred=T;PROVEAN_score=0.74;PROVEAN_converted_rankscore=0.020;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.016;MetaSVM_score=-1.023;MetaSVM_rankscore=0.226;MetaSVM_pred=T;MetaLR_score=0.037;MetaLR_rankscore=0.160;MetaLR_pred=T;M-CAP_score=0.005;M-CAP_rankscore=0.121;M-CAP_pred=T;REVEL_score=0.017;REVEL_rankscore=0.029;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.117;CADD_raw_rankscore=0.105;CADD_phred=3.791;DANN_score=0.338;DANN_rankscore=0.020;fathmm-MKL_coding_score=0.033;fathmm-MKL_coding_rankscore=0.083;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.509;Eigen-PC-raw=-1.515;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.384;integrated_fitCons_score=0.487;integrated_fitCons_score_rankscore=0.133;integrated_confidence_value=0;GERP++_RS=-4.24;GERP++_RS_rankscore=0.035;phyloP100way_vertebrate=-1.058;phyloP100way_vertebrate_rankscore=0.036;phyloP20way_mammalian=-0.531;phyloP20way_mammalian_rankscore=0.049;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.001;phastCons20way_mammalian_rankscore=0.043;SiPhy_29way_logOdds=6.456;SiPhy_29way_logOdds_rankscore=0.210;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=0.0043;ExAC_nontcga_ALL=0.0018;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0012;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0031;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0001;AF=0.0027;AF_popmax=0.0045;AF_male=0.0025;AF_female=0.0029;AF_raw=0.0027;AF_afr=0.0009;AF_sas=.;AF_amr=0.0036;AF_eas=0;AF_nfe=0.0045;AF_fin=0.0009;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0042;non_neuro_AF_popmax=0.0055;non_cancer_AF_popmax=.;controls_AF_popmax=0.0047;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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-124.233,0,-182.396:123:70:53:1858:2548:70,53 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179613191 . T C 705.61 . AB=0.316239;ABP=37.327;AC=1;AF=0.5;AN=2;AO=37;CIGAR=1X;DP=117;DPB=117;DPRA=0;EPP=7.76406;EPPR=24.2907;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.975;NS=1;NUMALT=1;ODDS=162.474;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1332;QR=3072;RO=80;RPL=15;RPP=5.88603;RPPR=3.44459;RPR=22;RUN=1;SAF=20;SAP=3.5385;SAR=17;SF=21;SRF=46;SRP=6.91895;SRR=34;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-80.6321,0,-230.05:117:80:37:1332:3072:80,37 . . . . . . . . . . . . . . . +chr2 179614952 . A G 7955.16 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=259;CIGAR=1X;DP=3290;DPB=259;DPRA=0;EPP=10.0613;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9691;MQMR=0;NS=1;NUMALT=1;ODDS=363.655;PAIRED=0.996139;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9537;QR=0;RO=0;RPL=124;RPP=4.02477;RPPR=0;RPR=135;RUN=1;SAF=114;SAP=11.0674;SAR=145;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-826.409,-77.9668,0:259:0:259:9537:0:0,259 . . 1/1:-701.029,-65.0225,0:216:0:216:8107:0:0,216 . 1/1:-847.555,-80.676,0:270:0:268:9788:0:0,268 1/1:-613.953,-57.7978,0:193:0:192:7090:0:0,192 . . 1/1:-591.543,-54.6937,0:187:1:186:6845:16:1,186 1/1:-638.8,-60.206,0:200:0:200:7386:0:0,200 . 1/1:-973.573,-91.5131,0:305:0:304:11271:0:0,304 . . . 1/1:-734.372,-68.6348,0:228:0:228:8495:0:0,228 . . . 1/1:-933.025,-86.6966,0:288:0:288:10805:0:0,288 1/1:-552.631,-53.5833,0:178:0:178:6391:0:0,178 . . 1/1:-477.153,-44.5524,0:149:0:148:5510:0:0,148 1/1:-1474.4,-140.117,0:472:1:469:17047:16:1,469 . 1/1:-1079.46,-102.193,0:345:1:343:12499:16:1,343 . . . . . . . . . +chr2 179615887 . T C 3473.00 . AB=0;ABP=0;AC=25;AF=1;AN=26;AO=104;CIGAR=1X;DP=1554;DPB=104;DPRA=0;EPP=73.2491;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8269;MQMR=0;NS=1;NUMALT=1;ODDS=148.78;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3782;QR=0;RO=0;RPL=32;RPP=36.4176;RPPR=0;RPR=72;RUN=1;SAF=63;SAP=13.116;SAR=41;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-328.762,-31.3071,0:104:0:104:3782:0:0,104 . . 1/1:-359.732,-34.0164,0:113:0:113:4144:0:0,113 . 1/1:-351.847,-33.4143,0:111:0:111:4063:0:0,111 1/1:-293.439,-28.2968,0:94:0:94:3375:0:0,94 . . 1/1:-265.127,-26.1896,0:88:0:87:3102:0:0,87 0/1:-112.937,0,-150.446:103:56:47:1683:2094:56,47 . 1/1:-477.247,-45.1545,0:150:0:150:5515:0:0,150 . . . 1/1:-361.886,-32.7836,0:115:1:113:4189:17:1,113 . . . 1/1:-389.744,-36.7257,0:122:0:122:4488:0:0,122 1/1:-283.314,-29.5009,0:98:0:98:3306:0:0,98 . . 1/1:-189.65,-18.0618,0:61:0:60:2182:0:0,60 1/1:-664.632,-64.1194,0:215:0:213:7659:0:0,213 . 1/1:-554.64,-54.1854,0:180:0:180:6433:0:0,180 . . . . . . . . . +chr2 179615931 . C G 4950.65 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=162;CIGAR=1X;DP=2045;DPB=162;DPRA=0;EPP=3.49285;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.6667;MQMR=0;NS=1;NUMALT=1;ODDS=229.185;PAIRED=0.987654;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6146;QR=0;RO=0;RPL=53;RPP=45.0457;RPPR=0;RPR=109;RUN=1;SAF=119;SAP=80.4327;SAR=43;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-527.067,-48.7669,0:162:0:162:6146:0:0,162 . . 1/1:-482.073,-44.2514,0:147:0:147:5586:0:0,147 . 1/1:-484.199,-44.5524,0:149:0:148:5626:0:0,148 1/1:-460.374,-42.7463,0:142:0:142:5327:0:0,142 . . 1/1:-360.684,-34.6185,0:115:0:115:4238:0:0,115 1/1:-402.694,-37.0267,0:123:0:123:4666:0:0,123 . 1/1:-585.975,-54.1854,0:180:0:180:6792:0:0,180 . . . 1/1:-475.754,-43.6494,0:145:0:145:5513:0:0,145 . . . 1/1:-477.837,-44.5524,0:150:0:148:5542:0:0,148 1/1:-380.302,-36.7257,0:122:0:122:4495:0:0,122 . . 1/1:-249.84,-23.4803,0:78:0:78:2883:0:0,78 1/1:-920.741,-85.7936,0:286:0:285:10656:0:0,285 . 1/1:-792.981,-74.0534,0:246:0:246:9223:0:0,246 . . . . . . . . . +chr2 179615994 . T C 5088.08 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=170;CIGAR=1X;DP=2094;DPB=170;DPRA=0;EPP=84.7598;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7882;MQMR=0;NS=1;NUMALT=1;ODDS=240.275;PAIRED=0.982353;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6395;QR=0;RO=0;RPL=94;RPP=7.14887;RPPR=0;RPR=76;RUN=1;SAF=99;SAP=13.0246;SAR=71;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-551.543,-51.1751,0:170:0:170:6395:0:0,170 . . 1/1:-455.693,-41.8432,0:139:0:139:5268:0:0,139 . 1/1:-541.674,-50.573,0:168:0:168:6259:0:0,168 1/1:-450.627,-42.1442,0:140:0:140:5202:0:0,140 . . 1/1:-339.42,-32.2102,0:107:0:107:3946:0:0,107 1/1:-404.331,-37.3277,0:126:0:124:4675:0:0,124 . 1/1:-642.904,-59.905,0:200:0:199:7429:0:0,199 . . . 1/1:-464.927,-43.3483,0:144:0:144:5387:0:0,144 . . . 1/1:-506.696,-47.8638,0:159:0:159:5882:0:0,159 1/1:-376.293,-35.5215,0:118:0:118:4385:0:0,118 . . 1/1:-252.638,-23.7814,0:79:0:79:2910:0:0,79 1/1:-915.689,-85.4925,0:284:0:284:10585:0:0,284 . 1/1:-840.638,-78.2678,0:260:0:260:9708:0:0,260 . . . . . . . . . +chr2 179616770 . GAAAAAAAAAAAAAAACCTTT GAAAAAAAAAAAAAACCTTT,GAAAAAAAAAAAAACCTTT 1257.70 . AB=0;ABP=0;AC=13,4;AF=1;AN=26;AO=61;CIGAR=1M1D19M;DP=1454;DPB=80.7143;DPRA=0;EPP=13.2981;EPPR=3.32051;GTI=0;LEN=1;MEANALT=11;MQM=41.541;MQMR=42;NS=1;NUMALT=1;ODDS=36.3243;PAIRED=1;PAIREDR=1;PAO=0.333333;PQA=6;PQR=6;PRO=0.333333;QA=2002;QR=239;RO=7;RPL=17;RPP=28.9612;RPPR=5.80219;RPR=44;RUN=1;SAF=29;SAP=3.33068;SAR=32;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=4;SRP=3.32051;SRR=3;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.526158;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs58651353;CLNALLELEID=56888;CLNDN=Dilated_cardiomyopathy_1G|Familial_hypertrophic_cardiomyopathy_9|not_specified;CLNDISDB=MedGen:C1858763,OMIM:604145|MedGen:C1861065,OMIM:613765|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=.;ExAC_nontcga_ALL=0.4736;ExAC_nontcga_AFR=0.4890;ExAC_nontcga_AMR=0.4767;ExAC_nontcga_EAS=0.5122;ExAC_nontcga_FIN=0.5317;ExAC_nontcga_NFE=0.4635;ExAC_nontcga_OTH=0.4746;ExAC_nontcga_SAS=0.4562;AF=0.6854;AF_popmax=0.9043;AF_male=0.6844;AF_female=0.6867;AF_raw=0.6641;AF_afr=0.7575;AF_sas=.;AF_amr=0.5869;AF_eas=0.9043;AF_nfe=0.6445;AF_fin=0.5453;AF_asj=0.496;AF_oth=0.6267;non_topmed_AF_popmax=0.9048;non_neuro_AF_popmax=0.9043;non_cancer_AF_popmax=.;controls_AF_popmax=0.9083;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=.;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.120008;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397517802;CLNALLELEID=56889;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=0.2145;ExAC_nontcga_AFR=0.1889;ExAC_nontcga_AMR=0.1503;ExAC_nontcga_EAS=0.3187;ExAC_nontcga_FIN=0.2508;ExAC_nontcga_NFE=0.2251;ExAC_nontcga_OTH=0.1889;ExAC_nontcga_SAS=0.1763;AF=0.0879;AF_popmax=0.1232;AF_male=0.0882;AF_female=0.0876;AF_raw=0.0835;AF_afr=0.0251;AF_sas=.;AF_amr=0.0496;AF_eas=0.0610;AF_nfe=0.1232;AF_fin=0.1339;AF_asj=0.108;AF_oth=0.1172;non_topmed_AF_popmax=0.1259;non_neuro_AF_popmax=0.1197;non_cancer_AF_popmax=.;controls_AF_popmax=0.1255;Kaviar_AF=0.0027296;Kaviar_AC=422;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-154.03,-0.380661,0,.,.,.:85:7:61,.:2002,.:239:7,61 . . 0/1:-179.272,0,-7.06902,.,.,.:99:10:68,.:2337,.:359:10,68 . 1/2:-184.907,-15.9813,-28.1901,-140.18,0,-167.129:119:12:67,18:2207,617:409:12,67,18 0/2:-26.8919,.,.,0,.,-46.3162:57:20:.,13:.,437:676:20,13 . . 1/2:-108.371,-42.469,-42.1267,-58.4286,0,-59.5898:71:3:29,24:859,659:106:3,29,24 0/1:-109.953,0,-58.8005,.,.,.:82:26:45,.:1504,.:914:26,45 . 0/1:-215.188,0,-29.174,-167.357,-1.20156,-215.778:150:21:87,23:2843,702:739:21,87,23 . . . 0/1:-69.407,0,-108.706,.,.,.:111:43:30,.:1077,.:1545:43,30 . . . 0/1:-115.544,0,-109.727,.,.,.:136:46:49,.:1650,.:1627:46,49 0/1:-36.2322,0,-99.5951,.,.,.:93:40:20,.:632,.:1372:40,20 . . 0/1:-50.6021,0,-35.9672,.,.,.:51:15:22,.:708,.:538:15,22 1/2:-345.013,-17.9198,-51.4806,-262.248,0,-324.689:216:26:130,34:4292,1170:930:26,130,34 . 0/1:-192.096,0,-88.851,.,.,.:184:42:84,.:2643,.:1496:42,84 . . . . . . . . . +chr2 179620951 . C T 5012.31 . AB=0;ABP=0;AC=25;AF=1;AN=26;AO=163;CIGAR=1X;DP=2154;DPB=164;DPRA=0;EPP=6.00773;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.4969;MQMR=42;NS=1;NUMALT=1;ODDS=225.255;PAIRED=0.981595;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6131;QR=16;RO=1;RPL=96;RPP=14.214;RPPR=5.18177;RPR=67;RUN=1;SAF=83;SAP=3.1302;SAR=80;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-523.163,-47.77,0:164:1:163:6131:16:1,163 . . 1/1:-492.706,-45.4555,0:151:0:151:5709:0:0,151 . 1/1:-574.762,-53.2823,0:177:0:177:6655:0:0,177 1/1:-420.523,-38.8329,0:129:0:129:4873:0:0,129 . . 1/1:-399.689,-37.0267,0:123:0:123:4625:0:0,123 0/1:-142.35,0,-223.035:141:83:58:2133:3061:83,58 . 1/1:-686.515,-63.8184,0:212:0:212:7964:0:0,212 . . . 1/1:-524.998,-48.7669,0:162:0:162:6081:0:0,162 . . . 1/1:-618.098,-57.7978,0:193:0:192:7157:0:0,192 1/1:-312.592,-30.404,0:101:0:101:3635:0:0,101 . . 1/1:-394.049,-36.7257,0:122:0:122:4560:0:0,122 1/1:-778.748,-72.8493,0:242:0:242:9022:0:0,242 . 1/1:-756.363,-71.3441,0:237:0:237:8808:0:0,237 . . . . . . . . . +chr2 179621477 . C T 8572.27 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=247;CIGAR=1X;DP=3666;DPB=247;DPRA=0;EPP=85.7285;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7814;MQMR=0;NS=1;NUMALT=1;ODDS=347.02;PAIRED=0.995951;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9241;QR=0;RO=0;RPL=171;RPP=82.3526;RPPR=0;RPR=76;RUN=1;SAF=83;SAP=60.6906;SAR=164;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-799.224,-74.3544,0:247:0:247:9241:0:0,247 . . 1/1:-887.423,-84.5894,0:283:0:281:10241:0:0,281 . 1/1:-894.425,-84.7967,0:287:1:286:10370:16:1,286 1/1:-646.738,-61.1091,0:203:0:203:7472:0:0,203 . . 1/1:-677.533,-64.7215,0:215:0:215:7828:0:0,215 1/1:-850.845,-80.375,0:268:0:267:9825:0:0,267 . 1/1:-1353.34,-128.239,0:428:0:426:15621:0:0,426 . . . 1/1:-873.627,-81.5791,0:272:0:271:10120:0:0,271 . . . 1/1:-1107.15,-104.758,0:348:0:348:12818:0:0,348 1/1:-618.734,-57.5027,0:196:1:195:7166:15:1,195 . . 1/1:-412.26,-38.8329,0:129:0:129:4767:0:0,129 1/1:-1321.77,-126.194,0:425:1:423:15341:16:1,423 . 1/1:-1151.81,-106.838,0:365:2:363:13373:32:2,363 . . . . . . . . . +chr2 179623758 . C T 7650.13 . AB=0;ABP=0;AC=25;AF=1;AN=26;AO=216;CIGAR=1X;DP=3228;DPB=216;DPRA=0;EPP=8.80089;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8426;MQMR=0;NS=1;NUMALT=1;ODDS=304.045;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8143;QR=0;RO=0;RPL=73;RPP=52.2706;RPPR=0;RPR=143;RUN=1;SAF=111;SAP=3.37221;SAR=105;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-701.111,-65.0225,0:216:0:216:8143:0:0,216 . . 1/1:-678.605,-62.9153,0:209:0:209:7854:0:0,209 . 1/1:-920.813,-85.1915,0:283:0:283:10691:0:0,283 1/1:-585.408,-55.0885,0:183:0:183:6820:0:0,183 . . 1/1:-604.697,-54.0443,0:192:1:190:7079:39:1,190 0/1:-244.326,0,-276.226:196:103:93:3513:3874:103,93 . 1/1:-1048.93,-97.2327,0:323:0:323:12144:0:0,323 . . . 1/1:-669.374,-62.6142,0:208:0:208:7784:0:0,208 . . . 1/1:-886.646,-81.5791,0:272:0:271:10285:0:0,271 1/1:-601.509,-55.9916,0:186:0:186:6971:0:0,186 . . 1/1:-490.993,-44.8535,0:149:0:149:5684:0:0,149 1/1:-1498.91,-138.402,0:465:1:463:17362:15:1,463 . 1/1:-1119.87,-104.156,0:346:0:346:12964:0:0,346 . . . . . . . . . +chr2 179629363 . T C 17244.90 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=530;CIGAR=1X;DP=7140;DPB=530;DPRA=0;EPP=3.1578;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9925;MQMR=0;NS=1;NUMALT=1;ODDS=739.341;PAIRED=0.996226;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=19854;QR=0;RO=0;RPL=158;RPP=190.642;RPPR=0;RPR=372;RUN=1;SAF=292;SAP=14.9575;SAR=238;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1715.88,-159.546,0:530:0:530:19854:0:0,530 . . 1/1:-1642.27,-151.885,0:510:1:508:19032:15:1,508 . 1/1:-2256.63,-210.692,0:706:1:704:26186:17:1,704 1/1:-1284.03,-119.014,0:401:1:400:14891:17:1,400 . . 1/1:-1377.93,-129.443,0:432:0:430:15964:0:0,430 1/1:-1801.31,-167.975,0:558:0:558:20864:0:0,558 . 1/1:-2649.25,-245.717,0:836:4:831:30859:65:4,831 . . . 1/1:-1677.41,-156.536,0:523:0:520:19430:0:0,520 . . . 1/1:-2258.68,-212.226,0:706:0:705:26231:0:0,705 1/1:-850.124,-80.676,0:269:0:268:9842:0:0,268 . . 1/1:-816.465,-76.1606,0:253:0:253:9436:0:0,253 1/1:-2490.99,-236.014,0:789:1:788:28861:15:1,788 . 1/1:-1982.99,-188.746,0:627:0:627:22957:0:0,627 . . . . . . . . . +chr2 179629461 . C T 13482.05 . AB=0;ABP=0;AC=25;AF=1;AN=26;AO=414;CIGAR=1X;DP=5857;DPB=414;DPRA=0;EPP=9.07364;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8937;MQMR=0;NS=1;NUMALT=1;ODDS=578.531;PAIRED=0.987923;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=15623;QR=0;RO=0;RPL=323;RPP=285.323;RPPR=0;RPR=91;RUN=1;SAF=185;SAP=13.1648;SAR=229;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1347.58,-124.626,0:414:0:414:15623:0:0,414 . . 1/1:-1264.19,-117.402,0:390:0:390:14651:0:0,390 . 1/1:-1860.03,-172.189,0:573:0:572:21589:0:0,572 1/1:-1096.22,-102.049,0:339:0:339:12727:0:0,339 . . 1/1:-1108.23,-102.327,0:346:1:344:12874:17:1,344 0/1:-492.174,0,-638.576:433:242:191:7207:8860:242,191 . 1/1:-2149.31,-200.041,0:667:1:666:24995:16:1,666 . . . 1/1:-1416.33,-130.647,0:434:0:434:16426:0:0,434 . . . 1/1:-1940.04,-180.618,0:600:0:600:22532:0:0,600 1/1:-714.128,-67.1297,0:225:0:223:8274:0:0,223 . . 1/1:-708.67,-65.3235,0:217:0:217:8263:0:0,217 1/1:-2193.73,-205.709,0:688:1:687:25435:14:1,687 . 1/1:-1693.54,-159.847,0:531:0:531:19671:0:0,531 . . . . . . . . . +chr2 179631214 . T C 3888.19 . AB=0.490385;ABP=3.26085;AC=1;AF=0.5;AN=2;AO=153;CIGAR=1X;DP=312;DPB=312;DPRA=0;EPP=6.20364;EPPR=10.3269;GTI=0;LEN=1;MEANALT=2;MQM=41.8301;MQMR=41.8408;NS=1;NUMALT=1;ODDS=895.289;PAIRED=0.993464;PAIREDR=0.974522;PAO=0;PQA=0;PQR=0;PRO=0;QA=5677;QR=5972;RO=157;RPL=66;RPP=9.26925;RPPR=3.68802;RPR=87;RUN=1;SAF=81;SAP=4.1599;SAR=72;SF=10;SRF=85;SRP=5.34774;SRR=72;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-396.803,0,-420.316:312:157:153:5677:5972:157,153 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179632496 . T C 2394.80 . AB=0.619355;ABP=22.1893;AC=1;AF=0.5;AN=2;AO=96;CIGAR=1X;DP=155;DPB=155;DPRA=0;EPP=8.80089;EPPR=4.35811;GTI=0;LEN=1;MEANALT=2;MQM=41.8021;MQMR=42;NS=1;NUMALT=1;ODDS=285.504;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3567;QR=2141;RO=58;RPL=11;RPP=126.875;RPPR=62.913;RPR=85;RUN=1;SAF=47;SAP=3.10078;SAR=49;SF=10;SRF=27;SRP=3.60933;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-262.435,0,-138.817:155:58:96:3567:2141:58,96 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179632710 . T C 8032.64 . AB=0;ABP=0;AC=21;AF=1;AN=24;AO=281;CIGAR=1X;DP=3621;DPB=281;DPRA=0;EPP=105.209;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=394.154;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10525;QR=0;RO=0;RPL=173;RPP=35.6597;RPPR=0;RPR=108;RUN=1;SAF=130;SAP=6.4182;SAR=151;SF=0,3,5,6,9,10,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-910.246,-84.5894,0:281:0:281:10525:0:0,281 . . 1/1:-963.945,-89.7069,0:300:0:298:11195:0:0,298 . 0/1:-539.105,0,-463.861:380:180:200:7586:6707:180,200 1/1:-680.576,-64.7215,0:216:0:215:7858:0:0,215 . . 1/1:-742.851,-70.14,0:233:0:233:8601:0:0,233 0/1:-346.1,0,-347.009:262:131:130:4916:4924:131,130 . . . . . 1/1:-966.876,-86.8515,0:301:1:299:11269:39:1,299 . . . 0/1:-527.245,0,-373.985:337:144:192:7306:5503:144,192 1/1:-531.042,-51.7772,0:172:0:172:6119:0:0,172 . . 1/1:-484.888,-45.7566,0:154:0:152:5597:0:0,152 1/1:-1813.05,-169.859,0:570:1:568:21001:17:1,568 . 1/1:-1325.69,-124.626,0:415:0:414:15340:0:0,414 . . . . . . . . . +chr2 179633644 . G C 1585.82 . AB=0.448052;ABP=6.62002;AC=1;AF=0.5;AN=2;AO=69;CIGAR=1X;DP=154;DPB=154;DPRA=0;EPP=10.0912;EPPR=37.9838;GTI=0;LEN=1;MEANALT=1;MQM=41.971;MQMR=41.7529;NS=1;NUMALT=1;ODDS=365.149;PAIRED=1;PAIREDR=0.988235;PAO=0;PQA=0;PQR=0;PRO=0;QA=2486;QR=3196;RO=85;RPL=49;RPP=29.4771;RPPR=4.26209;RPR=20;RUN=1;SAF=24;SAP=16.8888;SAR=45;SF=10;SRF=26;SRP=30.8307;SRR=59;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-169.973,0,-229.508:154:85:69:2486:3196:85,69 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179634392 . A T 2371.82 . AB=0.504673;ABP=3.03059;AC=4;AF=0.5;AN=6;AO=54;CIGAR=1X;DP=362;DPB=107;DPRA=0;EPP=3.6537;EPPR=14.851;GTI=0;LEN=1;MEANALT=1;MQM=40.4815;MQMR=41.9245;NS=1;NUMALT=1;ODDS=274.066;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1999;QR=1961;RO=53;RPL=11;RPP=44.1879;RPPR=78.766;RPR=43;RUN=1;SAF=34;SAP=10.8919;SAR=20;SF=5,12,20;SRF=40;SRP=32.8783;SRR=13;TYPE=snp;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=rs13388274;CLNALLELEID=141530;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,_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=0.0018;ExAC_nontcga_AFR=0.0022;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0.0041;ExAC_nontcga_FIN=0.0006;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0059;ExAC_nontcga_SAS=0.0033;AF=0.0012;AF_popmax=0.0042;AF_male=0.0013;AF_female=0.0012;AF_raw=0.0019;AF_afr=0.0022;AF_sas=.;AF_amr=0.0042;AF_eas=0;AF_nfe=0.0008;AF_fin=0.0003;AF_asj=0;AF_oth=0.0030;non_topmed_AF_popmax=0.0029;non_neuro_AF_popmax=0.0025;non_cancer_AF_popmax=.;controls_AF_popmax=0.0053;Kaviar_AF=0.0051616;Kaviar_AC=798;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-138.45,0,-137.812:107:53:54:1999:1961:53,54 . . . . . . 1/1:-431.813,-40.338,0:134:0:134:4997:0:0,134 . . . . . . . 0/1:-193.303,0,-117.004:121:48:73:2720:1793:48,73 . . . . . . . . . . . . . . . . +chr2 179634839 . T C 2923.06 . AB=0.456604;ABP=7.34505;AC=1;AF=0.5;AN=2;AO=121;CIGAR=1X;DP=265;DPB=265;DPRA=0;EPP=14.2266;EPPR=9.04217;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9722;NS=1;NUMALT=1;ODDS=673.059;PAIRED=0.983471;PAIREDR=0.993056;PAO=0;PQA=0;PQR=0;PRO=0;QA=4460;QR=5346;RO=144;RPL=35;RPP=49.688;RPPR=76.9007;RPR=86;RUN=1;SAF=78;SAP=24.9942;SAR=43;SF=10;SRF=89;SRP=20.4424;SRR=55;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon35:c.A8451G:p.E2817E,TTN:NM_133432:exon35:c.A8451G:p.E2817E,TTN:NM_133437:exon35:c.A8451G:p.E2817E,TTN:NM_001256850:exon36:c.A8589G:p.E2863E,TTN:NM_001267550:exon36:c.A8589G:p.E2863E,TTN:NM_133378:exon36:c.A8589G:p.E2863E,TTN:NM_133379:exon36:c.A8589G:p.E2863E;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72647883;CLNALLELEID=173452;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=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0;AF=9.55e-05;AF_popmax=0.0001;AF_male=0.0001;AF_female=7.178e-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=0.0034;AF_oth=0;non_topmed_AF_popmax=.;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=Name\x3d97.975397;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-307.575,0,-384.089:265:144:121:4460:5346:144,121 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179635919 . C T 1748.25 . AB=0.52;ABP=3.53145;AC=2;AF=0.5;AN=4;AO=78;CIGAR=1X;DP=278;DPB=150;DPRA=0;EPP=5.79424;EPPR=3.49285;GTI=0;LEN=1;MEANALT=1;MQM=41.9744;MQMR=41.3889;NS=1;NUMALT=1;ODDS=359.157;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2891;QR=2495;RO=72;RPL=26;RPP=21.8297;RPPR=10.7311;RPR=52;RUN=1;SAF=60;SAP=52.119;SAR=18;SF=12,20;SRF=62;SRP=84.5612;SRR=10;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-205.738,0,-172.035:150:72:78:2891:2495:72,78 . . . . . . . 0/1:-169.693,0,-156.246:128:61:66:2400:2256:61,66 . . . . . . . . . . . . . . . . +chr2 179638238 . G A 2996.34 . AB=0.48374;ABP=3.57524;AC=1;AF=0.5;AN=2;AO=119;CIGAR=1X;DP=246;DPB=246;DPRA=0;EPP=3.02855;EPPR=4.41741;GTI=0;LEN=1;MEANALT=3;MQM=41.9664;MQMR=42;NS=1;NUMALT=1;ODDS=689.933;PAIRED=0.983193;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4409;QR=4697;RO=125;RPL=47;RPP=14.4151;RPPR=32.2123;RPR=72;RUN=1;SAF=68;SAP=8.28388;SAR=51;SF=9;SRF=65;SRP=3.44459;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-308.034,0,-332.63:246:125:119:4409:4697:125,119 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179638314 . CGGT CGC 5265.99 . AB=0.51074;ABP=3.43008;AC=1;AF=0.5;AN=2;AO=214;CIGAR=1M1D1M1X;DP=419;DPB=365.25;DPRA=0;EPP=7.92148;EPPR=3.02167;GTI=0;LEN=3;MEANALT=4;MQM=41.2009;MQMR=41.8901;NS=1;NUMALT=1;ODDS=1076.33;PAIRED=0.985981;PAIREDR=1;PAO=1;PQA=32;PQR=0;PRO=0;QA=7595;QR=6869;RO=191;RPL=89;RPP=16.1609;RPPR=12.5716;RPR=125;RUN=1;SAF=113;SAP=4.47148;SAR=101;SF=3;SRF=101;SRP=4.38594;SRR=90;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_substitution;AAChange.refGene=TTN:NM_003319:exon31:c.7328_7329G,TTN:NM_133432:exon31:c.7328_7329G,TTN:NM_133437:exon31:c.7328_7329G,TTN:NM_001256850:exon32:c.7466_7467G,TTN:NM_001267550:exon32:c.7466_7467G,TTN:NM_133378:exon32:c.7466_7467G,TTN:NM_133379:exon32:c.7466_7467G;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\x3d98.612116;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-536.026,0,-475.942:419:191:214:7595:6869:191,214 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179638721 . C T 5187.59 . AB=0.507653;ABP=3.20972;AC=1;AF=0.5;AN=2;AO=199;CIGAR=1X;DP=392;DPB=392;DPRA=0;EPP=3.2831;EPPR=5.9056;GTI=0;LEN=1;MEANALT=2;MQM=41.6985;MQMR=41.9792;NS=1;NUMALT=1;ODDS=1119.65;PAIRED=0.98995;PAIREDR=0.994792;PAO=0;PQA=0;PQR=0;PRO=0;QA=7506;QR=7055;RO=192;RPL=113;RPP=10.9651;RPPR=3.05554;RPR=86;RUN=1;SAF=109;SAP=6.9495;SAR=90;SF=10;SRF=95;SRP=3.05554;SRR=97;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-527.139,0,-493.7:392:192:199:7506:7055:192,199 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179641009 . C T 3487.67 . AB=0.53012;ABP=4.97247;AC=1;AF=0.5;AN=2;AO=132;CIGAR=1X;DP=249;DPB=249;DPRA=0;EPP=4.65535;EPPR=3.48236;GTI=0;LEN=1;MEANALT=2;MQM=41.9697;MQMR=42;NS=1;NUMALT=1;ODDS=660.517;PAIRED=0.992424;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4999;QR=4255;RO=115;RPL=82;RPP=19.8557;RPPR=9.82684;RPR=50;RUN=1;SAF=65;SAP=3.0761;SAR=67;SF=9;SRF=64;SRP=6.20142;SRR=51;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TTN:NM_003319:exon27:c.G5444A:p.R1815H,TTN:NM_133432:exon27:c.G5444A:p.R1815H,TTN:NM_133437:exon27:c.G5444A:p.R1815H,TTN:NM_001256850:exon28:c.G5582A:p.R1861H,TTN:NM_001267550:exon28:c.G5582A:p.R1861H,TTN:NM_133378:exon28:c.G5582A:p.R1861H,TTN:NM_133379:exon28:c.G5582A:p.R1861H;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs140914855;CLNALLELEID=56360;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=0.092;SIFT_converted_rankscore=0.443;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=0.997;MutationTaster_converted_rankscore=0.524;MutationTaster_pred=D;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=-0.28;FATHMM_converted_rankscore=0.676;FATHMM_pred=T;PROVEAN_score=-3.28;PROVEAN_converted_rankscore=0.778;PROVEAN_pred=D;VEST3_score=0.328;VEST3_rankscore=0.729;MetaSVM_score=-0.210;MetaSVM_rankscore=0.774;MetaSVM_pred=T;MetaLR_score=0.387;MetaLR_rankscore=0.742;MetaLR_pred=T;M-CAP_score=0.037;M-CAP_rankscore=0.574;M-CAP_pred=D;REVEL_score=0.546;REVEL_rankscore=0.814;MutPred_score=.;MutPred_rankscore=.;CADD_raw=3.119;CADD_raw_rankscore=0.435;CADD_phred=22.6;DANN_score=0.970;DANN_rankscore=0.313;fathmm-MKL_coding_score=0.981;fathmm-MKL_coding_rankscore=0.797;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.695;Eigen-PC-raw=0.704;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=7.879;phyloP100way_vertebrate_rankscore=0.856;phyloP20way_mammalian=0.852;phyloP20way_mammalian_rankscore=0.362;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.989;phastCons20way_mammalian_rankscore=0.536;SiPhy_29way_logOdds=18.648;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=0.0001;ExAC_nontcga_ALL=9.417e-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=3.185e-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=.;non_neuro_AF_popmax=7.345e-05;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\x3d99.887589;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-357.65,0,-294.837:249:115:132:4999:4255:115,132 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179642425 . G A 5700.09 . AB=0.506757;ABP=3.06899;AC=25;AF=0.5;AN=26;AO=75;CIGAR=1X;DP=2471;DPB=148;DPRA=0;EPP=21.1059;EPPR=5.41974;GTI=0;LEN=1;MEANALT=1;MQM=41.9733;MQMR=42;NS=1;NUMALT=1;ODDS=383.195;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2749;QR=2512;RO=73;RPL=38;RPP=3.03925;RPPR=16.1284;RPR=37;RUN=1;SAF=47;SAP=13.4623;SAR=28;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=41;SRP=5.41974;SRR=32;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-193.685,0,-174.491:148:73:75:2749:2512:73,75 . . 1/1:-522.571,-50.272,0:167:0:167:6077:0:0,167 . 1/1:-582.255,-55.3895,0:184:0:184:6719:0:0,184 1/1:-438.525,-41.5421,0:138:0:138:5060:0:0,138 . . 1/1:-430.599,-40.9401,0:137:0:136:4969:0:0,136 1/1:-510.966,-48.7669,0:162:0:162:5885:0:0,162 . 1/1:-764.661,-72.8493,0:243:0:242:8856:0:0,242 . . . 1/1:-602.816,-56.5936,0:188:0:188:6969:0:0,188 . . . 1/1:-608.82,-57.4967,0:193:0:191:7058:0:0,191 1/1:-407.519,-39.4349,0:132:0:131:4688:0:0,131 . . 1/1:-277.314,-25.8886,0:87:0:86:3202:0:0,86 1/1:-1067.69,-103.253,0:343:0:343:12334:0:0,343 . 1/1:-1084.58,-104.156,0:349:0:346:12543:0:0,346 . . . . . . . . . +chr2 179644035 . G A 4791.13 . AB=0.576577;ABP=8.66395;AC=25;AF=0.5;AN=26;AO=64;CIGAR=1X;DP=2005;DPB=111;DPRA=0;EPP=19.4321;EPPR=15.095;GTI=0;LEN=1;MEANALT=2;MQM=41.7188;MQMR=41.1522;NS=1;NUMALT=1;ODDS=241.784;PAIRED=1;PAIREDR=0.978261;PAO=0;PQA=0;PQR=0;PRO=0;QA=2378;QR=1723;RO=46;RPL=28;RPP=5.18177;RPPR=3.76559;RPR=36;RUN=1;SAF=31;SAP=3.14602;SAR=33;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=26;SRP=4.70971;SRR=20;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-171.376,0,-113.005:111:46:64:2378:1723:46,64 . . 1/1:-421.923,-38.5318,0:128:0:128:4895:0:0,128 . 1/1:-472.297,-43.9504,0:146:0:146:5542:0:0,146 1/1:-420.49,-38.5318,0:128:0:128:4870:0:0,128 . . 1/1:-321.229,-29.5009,0:98:0:98:3718:0:0,98 1/1:-452.606,-41.8432,0:139:0:139:5269:0:0,139 . 1/1:-663.965,-61.1091,0:204:0:203:7727:0:0,203 . . . 1/1:-463.358,-42.7463,0:142:0:142:5395:0:0,142 . . . 1/1:-451.858,-41.5421,0:138:0:138:5241:0:0,138 1/1:-335.214,-31.6082,0:105:0:105:3904:0:0,105 . . 1/1:-301.974,-27.6948,0:92:0:92:3494:0:0,92 1/1:-1039.4,-95.7275,0:318:0:318:12068:0:0,318 . 1/1:-829.742,-77.0637,0:256:0:256:9652:0:0,256 . . . . . . . . . +chr2 179644855 . T C 8435.98 . AB=0.566667;ABP=14.5915;AC=23;AF=0.5;AN=26;AO=170;CIGAR=1X;DP=3990;DPB=300;DPRA=0;EPP=55.33;EPPR=15.2816;GTI=0;LEN=1;MEANALT=2;MQM=41.5647;MQMR=42;NS=1;NUMALT=1;ODDS=735.461;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6457;QR=4868;RO=129;RPL=102;RPP=17.7763;RPPR=21.3416;RPR=68;RUN=1;SAF=87;SAP=3.21467;SAR=83;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=64;SRP=3.02713;SRR=65;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-463.286,0,-330.493:300:129:170:6457:4868:129,170 . . 1/1:-845.419,-78.2678,0:260:0:260:9802:0:0,260 . 1/1:-1083.64,-100.243,0:334:0:333:12559:0:0,333 1/1:-776.39,-72.5482,0:241:0:241:8988:0:0,241 . . 1/1:-763.657,-70.7421,0:235:0:235:8853:0:0,235 0/1:-348.545,0,-351.896:268:136:132:4982:5038:136,132 . 0/1:-426.996,0,-548.129:369:204:165:6230:7637:204,165 . . . 1/1:-919.348,-84.5894,0:281:0:281:10671:0:0,281 . . . 1/1:-1127.57,-104.156,0:346:0:346:13075:0:0,346 1/1:-680.489,-63.5173,0:211:0:211:7904:0:0,211 . . 1/1:-524.987,-48.7669,0:163:0:162:6077:0:0,162 1/1:-1674.45,-156.837,0:521:0:521:19414:0:0,521 . 1/1:-1472.67,-138.775,0:461:0:461:17046:0:0,461 . . . . . . . . . +chr2 179650408 . G A 1163.60 . AB=0.468354;ABP=3.69747;AC=7;AF=0.5;AN=14;AO=37;CIGAR=1X;DP=654;DPB=79;DPRA=0;EPP=12.9286;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.8919;MQMR=42;NS=1;NUMALT=1;ODDS=199.763;PAIRED=1;PAIREDR=0.97619;PAO=0;PQA=0;PQR=0;PRO=0;QA=1351;QR=1519;RO=42;RPL=22;RPP=5.88603;RPPR=10.4553;RPR=15;RUN=1;SAF=18;SAP=3.06899;SAR=19;SF=6,9,16,20,21,24,27;SRF=20;SRP=3.21711;SRR=22;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-93.8001,0,-108.514:79:42:37:1351:1519:42,37 . . 0/1:-98.6431,0,-97.5299:77:39:38:1401:1383:39,38 . . . . . . 0/1:-124.546,0,-161.863:111:61:50:1817:2250:61,50 . . . 0/1:-158.865,0,-139.77:119:56:63:2250:2020:56,63 0/1:-150.687,0,-56.1076:83:25:58:2017:930:25,58 . . 0/1:-63.4797,0,-70.929:52:27:25:904:992:27,25 . . 0/1:-174.073,0,-156.114:133:64:69:2458:2249:64,69 . . . . . . . . . +chr2 179650443 . C T 1519.65 . AB=0.530973;ABP=3.95191;AC=1;AF=0.5;AN=2;AO=60;CIGAR=1X;DP=113;DPB=113;DPRA=0;EPP=44.8473;EPPR=24.6841;GTI=0;LEN=1;MEANALT=1;MQM=41.6333;MQMR=41.6604;NS=1;NUMALT=1;ODDS=285.154;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2269;QR=1916;RO=53;RPL=29;RPP=3.15506;RPPR=12.2288;RPR=31;RUN=1;SAF=30;SAP=3.0103;SAR=30;SF=27;SRF=24;SRP=4.03458;SRR=29;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TTN:NM_003319:exon14:c.G2259A:p.T753T,TTN:NM_133432:exon14:c.G2259A:p.T753T,TTN:NM_133437:exon14:c.G2259A:p.T753T,TTN:NM_001256850:exon15:c.G2397A:p.T799T,TTN:NM_001267550:exon15:c.G2397A:p.T799T,TTN:NM_133378:exon15:c.G2397A:p.T799T,TTN:NM_133379:exon15:c.G2397A:p.T799T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369313128;CLNALLELEID=55962;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=Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_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=0.0001;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=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=9.019e-05;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\x3d99.680005;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-161.622,0,-132.257:113:53:60:2269:1916:53,60 . . . . . . . . . +chr2 179650701 . C T 1335.47 . AB=0;ABP=0;AC=12;AF=1;AN=18;AO=59;CIGAR=1X;DP=586;DPB=59;DPRA=0;EPP=4.81373;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=86.3965;PAIRED=0.983051;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2204;QR=0;RO=0;RPL=24;RPP=7.46366;RPPR=0;RPR=35;RUN=1;SAF=28;SAP=3.34154;SAR=31;SF=3,5,6,10,12,20,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-191.107,-17.7608,0:59:0:59:2204:0:0,59 . 1/1:-253.234,-23.7814,0:79:0:79:2920:0:0,79 0/1:-54.3766,0,-49.1624:42:20:21:768:705:20,21 . . . 0/1:-100.666,0,-60.7196:61:24:37:1371:910:24,37 . 0/1:-75.56,0,-94.7651:66:35:30:1096:1319:35,30 . . . . . . . 0/1:-137.478,0,-49.5707:73:23:50:1837:821:23,50 . . . 0/1:-47.5845,0,-49.7148:40:20:20:683:708:20,20 1/1:-300.987,-28.8989,0:96:0:96:3468:0:0,96 . 0/1:-95.6333,0,-80.9973:70:33:37:1348:1177:33,37 . . . . . . . . . +chr2 179659108 . T C 2342.83 . AB=0.502591;ABP=3.02155;AC=1;AF=0.5;AN=2;AO=97;CIGAR=1X;DP=193;DPB=193;DPRA=0;EPP=27.389;EPPR=19.6735;GTI=0;LEN=1;MEANALT=2;MQM=41.4227;MQMR=41.6;NS=1;NUMALT=1;ODDS=536.741;PAIRED=1;PAIREDR=0.989474;PAO=0;PQA=0;PQR=0;PRO=0;QA=3581;QR=3569;RO=95;RPL=22;RPP=65.8935;RPPR=67.2173;RPR=75;RUN=1;SAF=50;SAP=3.21178;SAR=47;SF=0;SRF=49;SRP=3.21602;SRR=46;TYPE=snp;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=rs72647849;CLNALLELEID=141488;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0026;ExAC_nontcga_AFR=0.0004;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0.0004;ExAC_nontcga_FIN=0.0094;ExAC_nontcga_NFE=0.0034;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0008;AF=0.0029;AF_popmax=0.0031;AF_male=0.0025;AF_female=0.0034;AF_raw=0.0029;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0031;AF_fin=0.0089;AF_asj=0;AF_oth=0.0074;non_topmed_AF_popmax=0.0036;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0036;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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-249.856,0,-248.028:193:95:97:3581:3569:95,97 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179659294 . C T 2806.91 . AB=0.46371;ABP=5.84722;AC=1;AF=0.5;AN=2;AO=115;CIGAR=1X;DP=248;DPB=248;DPRA=0;EPP=92.9093;EPPR=150.36;GTI=0;LEN=1;MEANALT=1;MQM=41.9652;MQMR=42;NS=1;NUMALT=1;ODDS=646.315;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4337;QR=4947;RO=133;RPL=77;RPP=31.7304;RPPR=27.8435;RPR=38;RUN=1;SAF=56;SAP=3.18024;SAR=59;SF=3;SRF=69;SRP=3.41847;SRR=64;TYPE=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=rs72647847;CLNALLELEID=141486;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0020;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0013;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0079;AF=0.0003;AF_popmax=0.0005;AF_male=0.0004;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=0.0034;AF_oth=0.0009;non_topmed_AF_popmax=0.0003;non_neuro_AF_popmax=0.0004;non_cancer_AF_popmax=.;controls_AF_popmax=0.0002;Kaviar_AF=0.0016494;Kaviar_AC=255;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.441519;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-300.108,0,-353.317:248:133:115:4337:4947:133,115 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179659912 . G A 2435.27 . AB=0.471861;ABP=4.59895;AC=1;AF=0.5;AN=2;AO=109;CIGAR=1X;DP=231;DPB=231;DPRA=0;EPP=11.7958;EPPR=7.56683;GTI=0;LEN=1;MEANALT=1;MQM=41.6239;MQMR=42;NS=1;NUMALT=1;ODDS=560.742;PAIRED=0.990826;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3901;QR=4507;RO=122;RPL=92;RPP=115.07;RPPR=62.886;RPR=17;RUN=1;SAF=31;SAP=47.0175;SAR=78;SF=12;SRF=41;SRP=31.4886;SRR=81;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-267.88,0,-321.82:231:122:109:3901:4507:122,109 . . . . . . . . . . . . . . . . . . . . . . . . +chr2 179669244 . GAAAAAAAAACAAAAGTG GAAAAAAAAAACAAAAGTG 855.48 . AB=0.438202;ABP=5.96253;AC=1;AF=0.5;AN=2;AO=39;CIGAR=1M1I17M;DP=89;DPB=91.5556;DPRA=0;EPP=5.73856;EPPR=3.48696;GTI=0;LEN=1;MEANALT=10;MQM=41.9487;MQMR=42;NS=1;NUMALT=1;ODDS=196.981;PAIRED=0.974359;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1371;QR=1510;RO=41;RPL=15;RPP=7.52028;RPPR=26.3669;RPR=24;RUN=1;SAF=31;SAP=32.4644;SAR=8;SF=10;SRF=29;SRP=18.3165;SRR=12;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-95.0643,0,-107.376:89:41:39:1371:1510:41,39 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr2 220283259 . A G 370.02 . AB=0;ABP=0;AC=24;AF=1;AN=24;AO=19;CIGAR=1X;DP=165;DPB=19;DPRA=0;EPP=5.8675;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.2105;MQMR=0;NS=1;NUMALT=1;ODDS=30.9448;PAIRED=0.631579;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=694;QR=0;RO=0;RPL=14;RPP=12.2676;RPPR=0;RPR=5;RUN=1;SAF=11;SAP=4.03889;SAR=8;SF=0,3,5,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-56.4633,-5.71957,0:19:0:19:694:0:0,19 . . 1/1:-25.7759,-2.40824,0:8:0:8:292:0:0,8 . 1/1:-80.3483,-7.82678,0:26:0:26:921:0:0,26 . . . 1/1:-20.2978,-2.10721,0:7:0:7:230:0:0,7 1/1:-27.5801,-3.0103,0:10:0:10:354:0:0,10 . 1/1:-38.5163,-3.61236,0:12:0:12:438:0:0,12 . . . 1/1:-56.138,-5.41854,0:18:0:18:642:0:0,18 . . . 1/1:-55.1503,-6.0206,0:20:0:20:669:0:0,20 1/1:-12.6216,-1.20412,0:4:0:4:141:0:0,4 . . 1/1:-17.3875,-1.80618,0:6:0:6:195:0:0,6 1/1:-69.0849,-7.22472,0:24:0:24:828:0:0,24 . 1/1:-24.1182,-3.31133,0:11:0:11:325:0:0,11 . . . . . . . . . +chr2 220283277 . T C 290.62 . AB=0;ABP=0;AC=24;AF=1;AN=24;AO=16;CIGAR=1X;DP=135;DPB=16;DPRA=0;EPP=3.55317;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=37.5;MQMR=0;NS=1;NUMALT=1;ODDS=26.7859;PAIRED=0.75;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=558;QR=0;RO=0;RPL=15;RPP=29.6108;RPPR=0;RPR=1;RUN=1;SAF=8;SAP=3.0103;SAR=8;SF=0,3,5,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-45.6829,-4.81648,0:16:0:16:558:0:0,16 . . 1/1:-19.877,-1.80618,0:6:0:6:225:0:0,6 . 1/1:-75.1655,-7.22472,0:24:0:24:863:0:0,24 . . . 1/1:-15.5317,-1.50515,0:5:0:5:176:0:0,5 1/1:-10.8835,-1.50515,0:5:0:5:132:0:0,5 . 1/1:-23.0757,-2.40824,0:8:0:8:260:0:0,8 . . . 1/1:-48.4491,-4.51545,0:15:0:15:554:0:0,15 . . . 1/1:-43.8989,-4.81648,0:16:0:16:550:0:0,16 1/1:-6.75352,-0.60206,0:2:0:2:74:0:0,2 . . 1/1:-19.5895,-1.80618,0:6:0:6:221:0:0,6 1/1:-60.1582,-6.0206,0:21:0:20:748:0:0,20 . 1/1:-25.8687,-3.31133,0:11:0:11:318:0:0,11 . . . . . . . . . +chr2 220283338 . C A 25.96 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=5.08143;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=70;QR=65;RO=2;RPL=2;RPP=7.35324;RPPR=7.35324;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=24;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DES:NM_001927:exon1:c.C154A:p.R52S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs794728990;CLNALLELEID=198111;CLNDN=Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.506;SIFT_converted_rankscore=0.076;SIFT_pred=T;Polyphen2_HDIV_score=0.102;Polyphen2_HDIV_rankscore=0.243;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=0.469;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.455;MutationTaster_pred=D;MutationAssessor_score=1.615;MutationAssessor_score_rankscore=0.415;MutationAssessor_pred=L;FATHMM_score=-1.45;FATHMM_converted_rankscore=0.809;FATHMM_pred=T;PROVEAN_score=-0.31;PROVEAN_converted_rankscore=0.121;PROVEAN_pred=N;VEST3_score=0.887;VEST3_rankscore=0.875;MetaSVM_score=-0.494;MetaSVM_rankscore=0.689;MetaSVM_pred=T;MetaLR_score=0.392;MetaLR_rankscore=0.746;MetaLR_pred=T;M-CAP_score=0.423;M-CAP_rankscore=0.938;M-CAP_pred=D;REVEL_score=0.448;REVEL_rankscore=0.752;MutPred_score=0.525;MutPred_rankscore=0.630;CADD_raw=3.332;CADD_raw_rankscore=0.459;CADD_phred=22.9;DANN_score=0.987;DANN_rankscore=0.451;fathmm-MKL_coding_score=0.839;fathmm-MKL_coding_rankscore=0.427;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.025;Eigen-PC-raw=0.123;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=5.13;GERP++_RS_rankscore=0.696;phyloP100way_vertebrate=1.916;phyloP100way_vertebrate_rankscore=0.394;phyloP20way_mammalian=0.870;phyloP20way_mammalian_rankscore=0.379;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=13.524;SiPhy_29way_logOdds_rankscore=0.609;Interpro_domain=Intermediate_filament_head,_DNA-binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dENSR00000637249|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.850104;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.26834,0,-4.88268:4:2:2:70:65:2,2 . . . . . . . . . . . . +chr2 220283592 . C T 1915.27 . AB=0.537931;ABP=4.82236;AC=1;AF=0.5;AN=2;AO=78;CIGAR=1X;DP=145;DPB=145;DPRA=0;EPP=16.4846;EPPR=8.4876;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9701;NS=1;NUMALT=1;ODDS=347.964;PAIRED=1;PAIREDR=0.985075;PAO=0;PQA=0;PQR=0;PRO=0;QA=2825;QR=2360;RO=67;RPL=53;RPP=24.8364;RPPR=26.6372;RPR=25;RUN=1;SAF=29;SAP=14.1461;SAR=49;SF=25;SRF=22;SRP=20.1552;SRR=45;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-202.685,0,-162.176:145:67:78:2825:2360:67,78 . . . . . . . . . . . +chr2 220284779 . C T 5630.08 . AB=0.469208;ABP=5.81857;AC=13;AF=0.5;AN=20;AO=160;CIGAR=1X;DP=3682;DPB=341;DPRA=0;EPP=9.579;EPPR=3.59816;GTI=0;LEN=1;MEANALT=1;MQM=41.875;MQMR=41.8785;NS=1;NUMALT=1;ODDS=878.434;PAIRED=0.99375;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5935;QR=6565;RO=181;RPL=27;RPP=155.502;RPPR=178.66;RPR=133;RUN=1;SAF=112;SAP=58.6;SAR=48;SF=0,3,5,6,9,12,21,24,25,27;SRF=116;SRP=34.2147;SRR=65;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-411.581,0,-466.267:341:181:160:5935:6565:181,160 . . 0/1:-439.806,0,-429.808:343:168:172:6260:6137:168,172 . 0/1:-490.057,0,-498.658:388:196:190:7010:7159:196,190 1/1:-914.072,-86.979,0:295:1:293:10572:17:1,293 . . 1/1:-877.541,-81.1648,0:282:1:280:10165:39:1,280 . . 0/1:-656.096,0,-651.039:518:260:258:9377:9417:260,258 . . . . . . . . 0/1:-259.443,0,-337.638:240:132:108:3841:4727:132,108 . . 1/1:-717.331,-67.7318,0:226:0:225:8272:0:0,225 0/1:-719.231,0,-805.875:608:315:290:10427:11413:315,290 . 0/1:-490.039,0,-576.202:441:233:207:7191:8219:233,207 . . . . . . . . . +chr2 220285309 . C T 9224.65 . AB=0.508368;ABP=3.30104;AC=13;AF=0.5;AN=20;AO=243;CIGAR=1X;DP=5146;DPB=478;DPRA=0;EPP=5.02092;EPPR=3.46308;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9915;NS=1;NUMALT=1;ODDS=1379.5;PAIRED=0.995885;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8977;QR=8636;RO=235;RPL=123;RPP=3.09072;RPPR=3.46308;RPR=120;RUN=1;SAF=126;SAP=3.73412;SAR=117;SF=0,3,5,10,12,16,20,21,25,27;SRF=131;SRP=9.74648;SRR=104;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-634.552,0,-607.191:478:235:243:8977:8636:235,243 . . 0/1:-538.174,0,-605.614:444:234:209:7759:8516:234,209 . 0/1:-725.179,0,-810.133:607:320:285:10521:11444:320,285 . . . . 1/1:-1490.88,-141.785,0:472:0:471:17209:0:0,471 . 0/1:-757.358,0,-842.873:637:335:300:10946:11960:335,300 . . . 1/1:-1607.9,-152.321,0:508:0:506:18644:0:0,506 . . . 1/1:-1803.11,-170.68,0:572:1:570:20866:14:1,570 0/1:-273.104,0,-237.046:200:95:105:3828:3425:95,105 . . . 0/1:-796.09,0,-888.33:669:349:318:11516:12509:349,318 . 0/1:-679.614,0,-704.905:559:283:275:9798:10026:283,275 . . . . . . . . . +chr2 220285375 . G A 5438.78 . AB=0.522892;ABP=4.89922;AC=1;AF=0.5;AN=2;AO=217;CIGAR=1X;DP=415;DPB=415;DPRA=0;EPP=59.2985;EPPR=34.9902;GTI=0;LEN=1;MEANALT=1;MQM=41.8894;MQMR=41.9697;NS=1;NUMALT=1;ODDS=1106.51;PAIRED=0.995392;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7917;QR=7127;RO=198;RPL=138;RPP=37.8439;RPPR=42.4916;RPR=79;RUN=1;SAF=99;SAP=6.62275;SAR=118;SF=27;SRF=93;SRP=4.58955;SRR=105;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DES;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DES:NM_001927:exon4:c.G894A:p.S298S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs747073500;CLNALLELEID=228921;CLNDN=Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2R|not_specified;CLNDISDB=MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,Orphanet:ORPHA363543|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=3.773e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.535e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.943997;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-559.961,0,-494.353:415:198:217:7917:7127:198,217 . . . . . . . . . +chr2 220285666 . G C 7189.69 . AB=0.48139;ABP=4.22266;AC=13;AF=0.5;AN=20;AO=194;CIGAR=1X;DP=4004;DPB=403;DPRA=0;EPP=3.05507;EPPR=5.34801;GTI=0;LEN=1;MEANALT=1;MQM=41.9588;MQMR=41.9904;NS=1;NUMALT=1;ODDS=1147.18;PAIRED=0.984536;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7338;QR=7903;RO=209;RPL=135;RPP=67.662;RPPR=61.453;RPR=59;RUN=1;SAF=89;SAP=5.87575;SAR=105;SF=0,3,5,10,12,16,20,21,25,27;SRF=89;SRP=12.9949;SRR=120;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-512.36,0,-560.98:403:209:194:7338:7903:209,194 . . 0/1:-409.445,0,-484.347:340:180:160:5940:6791:180,160 . 0/1:-594.212,0,-625.301:467:239:228:8515:8876:239,228 . . . . 1/1:-1215.48,-113.187,0:377:0:376:14122:0:0,376 . 0/1:-584.588,0,-644.25:475:247:227:8419:9159:247,227 . . . 1/1:-1371.06,-127.336,0:424:0:423:15901:0:0,423 . . . 1/1:-1346.03,-127.637,0:426:0:424:15665:0:0,424 0/1:-212.015,0,-199.509:163:80:83:3010:2882:80,83 . . . 0/1:-625.755,0,-710.03:514:270:243:9051:10002:270,243 . 0/1:-512.884,0,-561.417:415:216:199:7379:7937:216,199 . . . . . . . . . +chr2 220286142 . G A 10609.36 . AB=0.507843;ABP=3.2828;AC=13;AF=0.5;AN=20;AO=259;CIGAR=1X;DP=5959;DPB=510;DPRA=0;EPP=11.0674;EPPR=43.4978;GTI=0;LEN=1;MEANALT=3;MQM=41.8533;MQMR=41.9113;NS=1;NUMALT=1;ODDS=1411.87;PAIRED=1;PAIREDR=0.991935;PAO=0;PQA=0;PQR=0;PRO=0;QA=9265;QR=8960;RO=248;RPL=150;RPP=17.1039;RPPR=19.9618;RPR=109;RUN=1;SAF=120;SAP=6.03695;SAR=139;SF=0,3,5,10,12,16,20,21,25,27;SRF=122;SRP=3.15039;SRR=126;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-651.117,0,-626.354:510:248:259:9265:8960:248,259 . . 0/1:-613.948,0,-719.859:542:285:255:9013:10180:285,255 . 0/1:-877.765,0,-856.314:695:342:352:12552:12267:342,352 . . . . 1/1:-1825.13,-175.459,0:596:1:593:21083:38:1,593 . 0/1:-1063.55,0,-849.011:778:355:417:14980:12439:355,417 . . . 1/1:-1759.78,-169.607,0:569:1:566:20296:12:1,566 . . . 1/1:-1940.88,-186.037,0:620:0:618:22402:0:0,618 0/1:-267.444,0,-346.571:259:143:116:3951:4861:143,116 . . . 0/1:-927.254,0,-833.4:728:345:379:13170:12076:345,379 . 0/1:-823.663,0,-755.041:662:319:339:11756:10962:319,339 . . . . . . . . . +chr20 30408306 . C G 6707.41 . AB=0.518519;ABP=4.53837;AC=1;AF=0.5;AN=2;AO=266;CIGAR=1X;DP=513;DPB=513;DPRA=0;EPP=3.53276;EPPR=4.28141;GTI=0;LEN=1;MEANALT=2;MQM=41.7932;MQMR=41.8537;NS=1;NUMALT=1;ODDS=1453.27;PAIRED=0.992481;PAIREDR=0.987805;PAO=0;PQA=0;PQR=0;PRO=0;QA=9652;QR=9171;RO=246;RPL=150;RPP=12.4472;RPPR=3.04561;RPR=116;RUN=1;SAF=111;SAP=18.8147;SAR=155;SF=12;SRF=115;SRP=5.27004;SRR=131;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-680.873,0,-639.008:513:246:266:9652:9171:246,266 . . . . . . . . . . . . . . . . . . . . . . . . +chr20 30409452 . T C 3858.58 . AB=0.487889;ABP=3.37847;AC=10;AF=0.5;AN=20;AO=141;CIGAR=1X;DP=3427;DPB=289;DPRA=0;EPP=6.47542;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.7305;MQMR=41.8716;NS=1;NUMALT=1;ODDS=764.693;PAIRED=0.992908;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5023;QR=5428;RO=148;RPL=98;RPP=49.5969;RPPR=59.4099;RPR=43;RUN=1;SAF=41;SAP=56.6195;SAR=100;SF=2,5,10,12,13,15,23,24,25,30;SRF=45;SRP=52.3673;SRR=103;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-349.57,0,-383.463:289:148:141:5023:5428 . . 0/1:-530.798,0,-478.572:394:185:208:7487:6946:185,208 . . . . 0/1:-441.346,0,-332.93:308:134:172:6205:4917:134,172 . 0/1:-622.087,0,-864.771:583:324:257:9160:12062:324,257 0/1:-338.882,0,-450.008:315:173:141:4996:6303 . 0/1:-339.689,0,-468.858:335:184:150:5142:6591 . . . . . . . 0/1:-407.906,0,-510.525:359:194:165:5929:7147 0/1:-183.954,0,-176.202:140:68:72:2594:2518:68,72 0/1:-540.945,0,-496.032:416:193:223:7676:7197:193,223 . . . . 0/1:-289.975,0,-456.712:288:168:120:4325:6279 . . . . . . +chr20 30414528 . G A 8645.28 . AB=0.5142;ABP=4.18205;AC=1;AF=0.5;AN=2;AO=344;CIGAR=1X;DP=669;DPB=669;DPRA=0;EPP=35.7339;EPPR=5.95682;GTI=0;LEN=1;MEANALT=1;MQM=41.8169;MQMR=41.4985;NS=1;NUMALT=1;ODDS=1876.84;PAIRED=0.991279;PAIREDR=0.987692;PAO=0;PQA=0;PQR=0;PRO=0;QA=12492;QR=11907;RO=325;RPL=207;RPP=33.9412;RPPR=3.5515;RPR=137;RUN=1;SAF=153;SAP=12.1254;SAR=191;SF=25;SRF=148;SRP=8.6294;SRR=177;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-879.559,0,-823.701:669:325:344:12492:11907:325,344 . . . . . . . . . . . +chr20 30414560 . C G 5747.90 . AB=0.491597;ABP=3.30226;AC=10;AF=0.5;AN=20;AO=234;CIGAR=1X;DP=4608;DPB=476;DPRA=0;EPP=6.72222;EPPR=3.15506;GTI=0;LEN=1;MEANALT=3;MQM=41.2521;MQMR=41.35;NS=1;NUMALT=1;ODDS=1323.73;PAIRED=0.987179;PAIREDR=0.966667;PAO=0;PQA=0;PQR=0;PRO=0;QA=8464;QR=8664;RO=240;RPL=139;RPP=20.976;RPPR=10.1038;RPR=95;RUN=1;SAF=104;SAP=9.28344;SAR=130;SF=2,5,10,12,13,15,23,24,25,30;SRF=112;SRP=5.32654;SRR=128;TYPE=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=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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-584.985,0,-601.448:476:240:234:8464:8664 . . 0/1:-687.405,0,-670.29:529:264:263:9845:9597:264,263 . . . . 0/1:-587.523,0,-513.376:423:201:221:8307:7410:201,221 . 0/1:-633.42,0,-682.643:517:266:249:9165:9721:266,249 0/1:-586.663,0,-593.332:463:237:226:8407:8466 . 0/1:-588.024,0,-592.902:465:233:230:8490:8466 . . . . . . . 0/1:-564.197,0,-636.011:461:245:215:8139:8945 0/1:-405.085,0,-294.309:275:123:152:5636:4367:123,152 0/1:-769.013,0,-828.916:629:324:302:11122:11742:324,302 . . . . 0/1:-442.836,0,-497.514:370:196:172:6419:7007 . . . . . . +chr20 30414578 . G A 3966.84 . AB=0.525727;ABP=5.58012;AC=4;AF=0.5;AN=8;AO=235;CIGAR=1X;DP=1485;DPB=447;DPRA=0;EPP=13.073;EPPR=4.48526;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.4906;NS=1;NUMALT=1;ODDS=1209.73;PAIRED=0.995745;PAIREDR=0.981132;PAO=0;PQA=0;PQR=0;PRO=0;QA=8659;QR=7774;RO=212;RPL=123;RPP=4.12838;RPPR=8.91015;RPR=112;RUN=1;SAF=123;SAP=4.12838;SAR=112;SF=3,21,27,35;SRF=102;SRP=3.66584;SRR=110;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-615.714,0,-533.644:447:212:235:8659:7774:212,235 . . . . . . . . . . . . . . . . . 0/1:-85.5653,0,-431.979:207:159:48:1699:5682:159,48 . . . . . 0/1:-541.248,0,-734.313:500:278:222:8031:10186:278,222 . . . . . . . 0/1:-389.312,0,-472.148:331:178:153:5642:6588 . +chr20 30414621 . C T 6930.96 . AB=0.518182;ABP=4.58955;AC=3;AF=0.5;AN=6;AO=285;CIGAR=1X;DP=1594;DPB=550;DPRA=0;EPP=4.29794;EPPR=4.62245;GTI=0;LEN=1;MEANALT=2;MQM=41.5439;MQMR=41.7689;NS=1;NUMALT=1;ODDS=1519.45;PAIRED=0.996491;PAIREDR=0.996212;PAO=0;PQA=0;PQR=0;PRO=0;QA=10687;QR=9625;RO=264;RPL=105;RPP=45.8683;RPPR=14.8876;RPR=180;RUN=1;SAF=148;SAP=3.93222;SAR=137;SF=11,27,34;SRF=132;SRP=3.0103;SRR=132;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . 0/1:-751.573,0,-668.806:550:264:285:10687:9625 . . . . . . . . . . . . . . . 0/1:-781.494,0,-747.526:586:287:299:11087:10672:287,299 . . . . . . 0/1:-579.627,0,-633.109:458:238:220:8328:8911 . . +chr20 30419834 . C T 3500.98 . AB=0.535156;ABP=5.75857;AC=1;AF=0.5;AN=2;AO=137;CIGAR=1X;DP=256;DPB=256;DPRA=0;EPP=7.591;EPPR=8.28388;GTI=0;LEN=1;MEANALT=1;MQM=41.8029;MQMR=41.6807;NS=1;NUMALT=1;ODDS=689.297;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5071;QR=4450;RO=119;RPL=47;RPP=32.3173;RPPR=7.11603;RPR=90;RUN=1;SAF=69;SAP=3.02615;SAR=68;SF=3;SRF=61;SRP=3.17453;SRR=58;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYLK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=MYLK2:NM_033118:exon12:c.C1605T:p.L535L;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs780842075;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=1.287e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.49e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0001;AF_popmax=0.0005;AF_male=5.725e-05;AF_female=0.0002;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=0.0004;non_neuro_AF_popmax=0.0006;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\x3d99.928017;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-360.592,0,-307.294:256:119:137:5071:4450:119,137 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr20 30419954 . A G 2335.06 . AB=0.454023;ABP=6.20511;AC=10;AF=0.5;AN=20;AO=79;CIGAR=1X;DP=1893;DPB=174;DPRA=0;EPP=32.9436;EPPR=24.9765;GTI=0;LEN=1;MEANALT=1;MQM=40.8608;MQMR=40.8211;NS=1;NUMALT=1;ODDS=403.675;PAIRED=0.987342;PAIREDR=0.978947;PAO=0;PQA=0;PQR=0;PRO=0;QA=2808;QR=3222;RO=95;RPL=57;RPP=36.6819;RPPR=57.8914;RPR=22;RUN=1;SAF=38;SAP=3.25768;SAR=41;SF=2,5,10,12,13,15,23,24,25,30;SRF=40;SRP=8.15326;SRR=55;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-188.506,0,-226.283:174:95:79:2808:3222 . . 0/1:-252.467,0,-240.43:190:94:96:3563:3427:94,96 . . . . 0/1:-300.514,0,-206.291:202:87:115:4169:3124:87,115 . 0/1:-334.585,0,-282.348:244:114:130:4704:4100:114,130 0/1:-239.543,0,-218.866:184:88:96:3384:3207 . 0/1:-280.026,0,-178.739:186:78:107:3860:2726 . . . . . . . 0/1:-257.476,0,-314.74:221:119:102:3736:4398 0/1:-119.112,0,-90.5424:81:36:44:1648:1321:36,44 0/1:-350.551,0,-301.536:254:121:133:4925:4351:121,133 . . . . 0/1:-178.92,0,-224.153:157:85:72:2593:3130 . . . . . . +chr20 31996708 . A G 7551.71 . AB=0.440171;ABP=24.8364;AC=1;AF=0.5;AN=2;AO=309;CIGAR=1X;DP=702;DPB=702;DPRA=0;EPP=3.07355;EPPR=4.25351;GTI=0;LEN=1;MEANALT=1;MQM=41.7832;MQMR=41.9949;NS=1;NUMALT=1;ODDS=1738.85;PAIRED=0.996764;PAIREDR=0.997455;PAO=0;PQA=0;PQR=0;PRO=0;QA=11337;QR=14424;RO=393;RPL=179;RPP=19.8831;RPPR=37.4942;RPR=130;RUN=1;SAF=122;SAP=32.7011;SAR=187;SF=5;SRF=169;SRP=19.7246;SRR=224;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369876616;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0001;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=7.381e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0003;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.269000;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-769.584,0,-1039.78:702:393:309:11337:14424:393,309 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr20 32031112 . C A 21.22 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.82846;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=76;QR=70;RO=2;RPL=0;RPP=7.35324;RPPR=7.35324;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=14;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SNTA1;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=1.0000;dbscSNV_RF_SCORE=0.948;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dENSR00000136252|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1187477|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.797852;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 0/1:-5.73939,0,-5.29277:4:2:2:76:70 . . . . . . . . . . . . . . . . . . . . . . +chr20 32031206 . G A 49.29 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=8;DPB=8;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=11.3489;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=132;QR=141;RO=4;RPL=4;RPP=11.6962;RPPR=11.6962;RPR=0;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=0;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-9.54798,0,-10.2941:8:4:4:132:141:4,4 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr20 32031208 . C A 50.52 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=67;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=17;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SNTA1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SNTA1:NM_003098:exon1:c.G219T:p.G73G;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=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 1/1:-6.25543,-0.60206,0:2:0:2:67:0 . . . . . . . . . . . . . . . . . . . +chr20 42743454 . A G 5997.56 . AB=0.489324;ABP=3.56669;AC=18;AF=0.5;AN=34;AO=275;CIGAR=1X;DP=7596;DPB=562;DPRA=0;EPP=3.39722;EPPR=11.7873;GTI=0;LEN=1;MEANALT=2;MQM=41.5055;MQMR=41.7832;NS=1;NUMALT=1;ODDS=1585.37;PAIRED=0.978182;PAIREDR=0.961538;PAO=0;PQA=0;PQR=0;PRO=0;QA=10022;QR=10439;RO=286;RPL=131;RPP=4.34477;RPPR=3.04067;RPR=144;RUN=1;SAF=135;SAP=3.20771;SAR=140;SF=2,3,8,12,13,18,19,20,21,23,24,27,30,31,32,34,36;SRF=138;SRP=3.76956;SRR=148;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-696.181,0,-732.825:562:286:275:10022:10439 0/1:-596.443,0,-673.307:492:260:232:8678:9541:260,232 . . . . 1/1:-1397.46,-131.851,0:438:0:438:16272:0 . . . 0/1:-942.467,0,-934.696:724:356:367:13460:13349:356,367 0/1:-531.254,0,-521.831:412:206:206:7581:7555 . . . . 0/1:-352.7,0,-316.267:256:122:134:4981:4539 0/1:-639.774,0,-708.582:529:275:254:9304:10062 0/1:-887.956,0,-744.022:633:292:340:12528:10870:292,340 0/1:-82.4176,0,-399.99:193:149:44:1634:5297:149,44 . 0/1:-696.319,0,-847.561:590:319:271:10137:11889 0/1:-302.01,0,-301.175:233:118:115:4297:4292:118,115 . . 0/1:-592.844,0,-640.31:493:255:238:8629:9144:255,238 . . 0/1:-529.488,0,-495.441:398:194:204:7532:7127 0/1:-357.339,0,-337.617:275:134:140:5108:4890 0/1:-594.731,0,-601.876:469:232:237:8592:8584 . 0/1:-561.21,0,-526.321:418:206:212:7962:7557 . 0/1:-593.237,0,-641.676:481:247:234:8588:9105 +chr20 42744587 . G C 199.53 . AB=0.4;ABP=3.87889;AC=11;AF=0.5;AN=22;AO=4;CIGAR=1X;DP=215;DPB=10;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=13.2793;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=152;QR=228;RO=6;RPL=0;RPP=11.6962;RPPR=16.0391;RPR=4;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=2,12,18,19,20,21,23,24,32,34,36;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . 0/1:-10.5113,0,-17.0893:10:6:4:152:228 . . . . . . . . . 0/1:-37.7824,0,-56.461:40:24:16:581:796:24,16 . . . . . 0/1:-7.52218,0,-23.4791:13:9:4:128:312 0/1:-26.0583,0,-35.8307:23:13:10:378:489 0/1:-42.0282,0,-26.8251:28:12:16:577:400:12,16 0/1:-7.52718,0,-13.677:8:5:3:110:180:5,3 . 0/1:-56.6196,0,-21.0757:32:10:22:757:349 0/1:-10.9729,0,-10.5143:8:4:4:150:144:4,4 . . . . . . . 0/1:-31.9502,0,-25.6065:22:10:12:440:367 . 0/1:-25.4052,0,-6.62018:12:3:9:330:114 . 0/1:-19.7133,0,-27.2465:19:10:9:288:376 +chr20 42744802 . C T 217.14 . AB=0.625;ABP=5.18177;AC=2;AF=0.5;AN=4;AO=10;CIGAR=1X;DP=42;DPB=16;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=20.6653;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=378;QR=220;RO=6;RPL=8;RPP=10.8276;RPPR=16.0391;RPR=2;RUN=1;SAF=5;SAP=3.0103;SAR=5;SF=11,30;SRF=3;SRP=3.0103;SRR=3;TYPE=snp;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-28.2353,0,-14.7043:16:6:10:378:220 . . . . . . . . . . . . . . . . . . 0/1:-28.4276,0,-38.0792:26:14:12:411:525 . . . . . . +chr20 42744945 . G A 14.43 . AB=0.4;ABP=3.44459;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=5;DPB=5;DPRA=0;EPP=3.0103;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.28501;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=72;QR=112;RO=3;RPL=0;RPP=7.35324;RPPR=9.52472;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=35;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=JPH2:NM_020433:exon4:c.C1370T:p.A457V;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.305;SIFT_converted_rankscore=0.142;SIFT_pred=T;Polyphen2_HDIV_score=0.02;Polyphen2_HDIV_rankscore=0.170;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.006;Polyphen2_HVAR_rankscore=0.112;Polyphen2_HVAR_pred=B;LRT_score=0.238;LRT_converted_rankscore=0.158;LRT_pred=U;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=0.18;FATHMM_converted_rankscore=0.604;FATHMM_pred=T;PROVEAN_score=-0.3;PROVEAN_converted_rankscore=0.119;PROVEAN_pred=N;VEST3_score=0.031;VEST3_rankscore=0.012;MetaSVM_score=-1.024;MetaSVM_rankscore=0.223;MetaSVM_pred=T;MetaLR_score=0.066;MetaLR_rankscore=0.271;MetaLR_pred=T;M-CAP_score=0.018;M-CAP_rankscore=0.396;M-CAP_pred=T;REVEL_score=0.060;REVEL_rankscore=0.177;MutPred_score=0.197;MutPred_rankscore=0.110;CADD_raw=-0.233;CADD_raw_rankscore=0.073;CADD_phred=0.937;DANN_score=0.938;DANN_rankscore=0.231;fathmm-MKL_coding_score=0.111;fathmm-MKL_coding_rankscore=0.162;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.309;Eigen-PC-raw=-1.303;GenoCanyon_score=0.972;GenoCanyon_score_rankscore=0.293;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=0.617;GERP++_RS_rankscore=0.167;phyloP100way_vertebrate=2.895;phyloP100way_vertebrate_rankscore=0.481;phyloP20way_mammalian=-0.452;phyloP20way_mammalian_rankscore=0.056;phastCons100way_vertebrate=0.079;phastCons100way_vertebrate_rankscore=0.221;phastCons20way_mammalian=0.007;phastCons20way_mammalian_rankscore=0.100;SiPhy_29way_logOdds=7.276;SiPhy_29way_logOdds_rankscore=0.253;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.730655;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.13593,0,-8.58573:5:3:2:72:112 . +chr20 42745033 . G A 251.43 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=12;CIGAR=1X;DP=24;DPB=24;DPRA=0;EPP=3.0103;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=57.8937;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=427;QR=455;RO=12;RPL=4;RPP=5.9056;RPPR=9.52472;RPR=8;RUN=1;SAF=6;SAP=3.0103;SAR=6;SF=35;SRF=6;SRP=3.0103;SRR=6;TYPE=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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-30.1467,0,-32.4749:24:12:12:427:455 . +chr20 42747247 . C T 3051.69 . AB=0.475806;ABP=3.64073;AC=16;AF=0.5;AN=32;AO=59;CIGAR=1X;DP=4259;DPB=124;DPRA=0;EPP=19.2411;EPPR=3.04371;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=310.809;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2143;QR=2457;RO=65;RPL=47;RPP=48.096;RPPR=27.3642;RPR=12;RUN=1;SAF=38;SAP=13.6468;SAR=21;SF=1,4,10,13,17,18,19,21,22,23,26,29,32,33,35,36;SRF=37;SRP=5.71629;SRR=28;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 0/1:-148.564,0,-175.681:124:65:59:2143:2457 . . 0/1:-391.13,0,-535.288:363:206:157:5782:7438 . . . . . 0/1:-330.976,0,-387.904:278:146:131:4793:5443:146,131 . . 0/1:-476.32,0,-357.149:332:146:185:6640:5260 . . . 0/1:-441.536,0,-453.123:351:177:173:6356:6440 0/1:-206.305,0,-216.42:170:85:84:2961:3076 0/1:-397.685,0,-336.175:290:136:154:5661:4891 . 0/1:-51.7249,0,-283.886:137:106:31:1067:3744:106,31 0/1:-149.549,0,-196.617:144:80:64:2247:2757 0/1:-512.959,0,-520.606:405:203:202:7364:7413 . . 0/1:-383.776,0,-451.908:346:185:159:5644:6394 . . 0/1:-475.709,0,-459.77:395:193:199:6853:6649 . . 0/1:-335.252,0,-359.594:271:137:134:4817:5091 0/1:-299.39,0,-325.604:247:129:118:4313:4622 . 0/1:-203.093,0,-181.396:156:74:81:2879:2621 0/1:-314.387,0,-310.617:250:123:126:4513:4483 +chr20 42747254 . G A 3619.99 . AB=0.43299;ABP=14.3602;AC=4;AF=0.5;AN=8;AO=126;CIGAR=1X;DP=1153;DPB=291;DPRA=0;EPP=3.28604;EPPR=11.2356;GTI=0;LEN=1;MEANALT=1;MQM=41.9683;MQMR=41.8485;NS=1;NUMALT=1;ODDS=710.051;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4673;QR=5924;RO=165;RPL=74;RPP=11.3515;RPPR=58.6132;RPR=52;RUN=1;SAF=61;SAP=3.28604;SAR=65;SF=13,20,23,32;SRF=85;SRP=3.33931;SRR=80;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . 0/1:-317.17,0,-427.094:291:165:126:4673:5924 . . . . . . 0/1:-402.822,0,-326.916:282:128:153:5637:4742:128,153 . . 0/1:-473.837,0,-437.128:348:169:179:6697:6259 . . . . . . . . 0/1:-303.914,0,-299.498:232:117:115:4321:4278 . . . . +chr20 42814955 . A C 1497.42 . AB=0.539823;ABP=4.56684;AC=1;AF=0.5;AN=2;AO=61;CIGAR=1X;DP=113;DPB=113;DPRA=0;EPP=3.90025;EPPR=11.1951;GTI=0;LEN=1;MEANALT=1;MQM=41.9672;MQMR=41.3077;NS=1;NUMALT=1;ODDS=254.704;PAIRED=1;PAIREDR=0.961538;PAO=0;PQA=0;PQR=0;PRO=0;QA=2281;QR=1873;RO=52;RPL=12;RPP=51.7438;RPPR=51.2838;RPR=49;RUN=1;SAF=45;SAP=32.9481;SAR=16;SF=8;SRF=42;SRP=45.7716;SRR=10;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=JPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs763058686;CLNALLELEID=507164;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=3.78e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=5.542e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=0.0002;AF_popmax=0.0006;AF_male=0.0002;AF_female=0.0002;AF_raw=0.0003;AF_afr=0.0006;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=0.0006;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=Name\x3dENSR00000137483|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.240451;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . 0/1:-164.28,0,-127.209:113:52:61:2281:1873 . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr20 42815190 . G A 19049.39 . AB=0;ABP=0;AC=65;AF=1;AN=74;AO=757;CIGAR=1X;DP=26960;DPB=757;DPRA=0;EPP=30.0002;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9062;MQMR=0;NS=1;NUMALT=1;ODDS=1054.03;PAIRED=0.988111;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=27828;QR=0;RO=0;RPL=361;RPP=6.52424;RPPR=0;RPR=396;RUN=1;SAF=331;SAP=28.8987;SAR=426;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-2410.48,-227.88,0:757:0:757:27828:0:0,757 1/1:-946.952,-89.4059,0:297:0:297:10931:0 1/1:-2410.58,-234.268,0:784:1:782:27844:16 1/1:-2209.64,-211.63,0:708:1:707:25566:15:1,707 1/1:-3020.95,-288.439,0:966:1:962:34970:16 0/1:-1026.23,0,-1317.26:909:499:410:15016:18380:499,410 1/1:-1997.41,-190.552,0:634:0:633:23078:0:0,633 1/1:-3709.67,-354.312,0:1178:0:1177:42870:0 1/1:-2087.37,-199.583,0:663:0:663:24212:0 1/1:-2290.09,-219.752,0:732:0:730:26490:0:0,730 1/1:-2398.78,-228.339,0:767:1:762:27792:15:1,762 1/1:-2761.28,-260.747,0:900:4:894:32031:109 0/1:-1484.35,0,-1445.13:1145:565:579:21154:20713:565,579 1/1:-2064.84,-199.884,0:665:0:664:23965:0 1/1:-2016.44,-189.95,0:632:0:631:23299:0 1/1:-2722.91,-261.896,0:871:0:870:31665:0 1/1:-2231.03,-210.42,0:700:0:699:25795:0:0,699 0/1:-1106.52,0,-1282.37:935:488:445:16087:18079 1/1:-1828.12,-173.995,0:579:0:578:21169:0 0/1:-975.16,0,-1068.41:800:414:386:14119:15133 1/1:-3178.44,-301.376,0:1020:2:1016:36932:57:2,1016 0/1:-650.526,0,-159.319:318:79:239:8596:2940:79,239 1/1:-1093.95,-106.866,0:355:0:355:12598:0 1/1:-2869.99,-272.733,0:906:0:906:33114:0 1/1:-1273.79,-121.014,0:402:0:402:14683:0:0,402 0/1:-1115.77,0,-1291.54:955:502:451:16274:18254:502,451 0/1:-1028.02,0,-1071.86:850:433:416:14881:15369 1/1:-2646.13,-253.918,0:855:2:851:30692:32:2,851 1/1:-1383.11,-133.657,0:445:0:444:16010:0 1/1:-2961.12,-287.794,0:962:1:961:34283:18 1/1:-1856.37,-169.817,0:594:5:589:21517:154 0/1:-527.637,0,-736.398:498:280:218:7813:10257 1/1:-2212.97,-212.197,0:713:2:710:25653:45 1/1:-1727.53,-164.972,0:558:1:553:19941:20 0/1:-893.077,0,-852.121:686:334:351:12721:12222 1/1:-1420.08,-129.493,0:453:2:451:16475:75 1/1:-2404,-230.89,0:768:0:767:27865:0 +chr20 61039958 . T C 661.35 . AB=0;ABP=0;AC=44;AF=1;AN=62;AO=13;CIGAR=1X;DP=1196;DPB=13;DPRA=0;EPP=11.1951;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=22.627;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=496;QR=0;RO=0;RPL=3;RPP=11.1951;RPPR=0;RPR=10;RUN=1;SAF=6;SAP=3.17734;SAR=7;SF=1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,19,20,21,22,23,24,25,26,28,29,30,33,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 1/1:-43.236,-3.91339,0:13:0:13:496:0 0/1:-41.3529,0,-57.4039:45:24:21:649:815 0/1:-55.8026,0,-77.8718:51:29:22:815:1072:29,22 0/1:-73.5947,0,-62.4979:54:24:29:1028:904 0/1:-77.9457,0,-78.4677:63:30:32:1108:1119:30,32 0/1:-34.9532,0,-54.9003:35:21:14:520:749:21,14 1/1:-151.015,-14.7505,0:50:0:49:1777:0 0/1:-41.4469,0,-50.8136:35:19:16:596:703 1/1:-98.0945,-9.0309,0:30:0:30:1129:0:0,30 1/1:-102.083,-8.83568,0:34:1:33:1193:14:1,33 0/1:-53.967,0,-33.0398:34:14:20:735:494 0/1:-75.3964,0,-67.8722:58:28:30:1066:1004:28,30 0/1:-31.3633,0,-76.2407:43:29:14:504:1026 1/1:-172.442,-16.2556,0:54:0:54:1983:0 1/1:-154.358,-15.3525,0:51:0:51:1772:0 1/1:-98.7464,-9.63296,0:32:0:32:1132:0:0,32 0/1:-101.148,0,-75.6226:70:31:39:1419:1109 . 1/1:-115.145,-11.1381,0:37:0:37:1317:0 0/1:-83.3737,0,-40.3941:51:18:33:1129:636:18,33 1/1:-41.6898,-0.860971,0:15:1:14:518:38:1,14 1/1:-23.809,-2.40824,0:8:0:8:269:0 0/1:-42.8057,0,-30.1462:30:12:18:592:448 1/1:-50.029,-4.81648,0:17:0:16:573:0:0,16 0/1:-59.5878,0,-96.503:63:37:26:899:1330:37,26 0/1:-45.0861,0,-34.5207:31:14:17:622:501 . 1/1:-68.7824,-6.32163,0:21:0:21:790:0 0/1:-55.4808,0,-71.8711:52:28:24:813:1001 0/1:-50.2704,0,-32.2581:32:13:19:683:478 . . 0/1:-41.3125,0,-51.397:36:20:16:599:712 . 0/1:-27.8211,0,-9.23068:14:4:10:364:151 1/1:-110.405,-11.1381,0:37:0:37:1282:0 +chr20 61040453 . C G 4351.50 . AB=0.468085;ABP=5.08937;AC=38;AF=0.5;AN=58;AO=110;CIGAR=1X;DP=7793;DPB=235;DPRA=0;EPP=10.9066;EPPR=3.86152;GTI=0;LEN=1;MEANALT=1;MQM=41.6545;MQMR=42;NS=1;NUMALT=1;ODDS=612.401;PAIRED=0.981818;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4113;QR=4695;RO=125;RPL=22;RPP=89.0006;RPPR=41.3846;RPR=88;RUN=1;SAF=67;SAP=14.3809;SAR=43;SF=0,1,2,3,4,5,7,8,9,10,11,13,14,15,16,17,18,20,21,22,24,25,26,29,30,32,33,34,36;SRF=73;SRP=10.6713;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-283.847,0,-335.995:235:125:110:4113:4695:125,110 0/1:-130.958,0,-107.992:89:41:48:1826:1553 0/1:-354.481,0,-362.694:279:140:139:5108:5185 0/1:-362.396,0,-408.887:298:157:141:5229:5788:157,141 0/1:-507.126,0,-518.702:389:196:193:7243:7350 0/1:-393.69,0,-496.896:338:185:153:5768:6917:185,153 . 0/1:-513.277,0,-679.91:459:253:206:7651:9473 0/1:-235.877,0,-372.243:232:137:95:3601:5142 1/1:-960.389,-88.5028,0:294:0:294:11164:0:0,294 0/1:-386.162,0,-319.693:272:127:145:5416:4657:127,145 0/1:-349.632,0,-485.303:323:182:141:5162:6733 . 0/1:-365.995,0,-403.984:301:156:143:5298:5725 1/1:-734.839,-67.7318,0:225:0:225:8513:0 0/1:-372.07,0,-380.858:291:145:145:5364:5449 0/1:-377.863,0,-372.01:290:144:146:5450:5304:144,146 0/1:-350.107,0,-512.469:328:189:139:5210:7071 1/1:-475.123,-43.9504,0:146:0:146:5503:0 . 0/1:-321.969,0,-337.515:253:129:123:4621:4775:129,123 1/1:-356.142,-33.1133,0:110:0:110:4130:0:0,110 1/1:-345.327,-31.9092,0:106:0:106:3992:0 . 1/1:-411.119,-37.9298,0:127:0:126:4759:0:0,126 0/1:-413.627,0,-642.517:403:237:165:6187:8813:237,165 1/1:-1022.6,-97.2327,0:324:0:323:11918:0 . . 0/1:-507.612,0,-508.578:392:195:197:7245:7228 1/1:-696.589,-60.247,0:223:3:219:8133:83 . 0/1:-287.704,0,-279.763:217:109:107:4087:4027 0/1:-433.254,0,-311.291:281:122:159:6010:4571 1/1:-810.368,-74.6554,0:248:0:248:9391:0 . 0/1:-399.987,0,-425.381:320:166:154:5763:6057 +chr20 61040951 . C T 7676.94 . AB=0.529545;ABP=6.34647;AC=38;AF=0.5;AN=58;AO=233;CIGAR=1X;DP=12891;DPB=440;DPRA=0;EPP=7.12025;EPPR=3.52432;GTI=0;LEN=1;MEANALT=1;MQM=41.8283;MQMR=41.9903;NS=1;NUMALT=1;ODDS=1204.47;PAIRED=1;PAIREDR=0.980676;PAO=0;PQA=0;PQR=0;PRO=0;QA=8709;QR=7672;RO=207;RPL=121;RPP=3.76519;RPPR=4.78314;RPR=112;RUN=1;SAF=111;SAP=4.13797;SAR=122;SF=0,1,2,3,4,5,7,8,9,10,11,13,14,15,16,17,18,20,21,22,24,25,26,29,30,32,33,34,36;SRF=104;SRP=3.02079;SRR=103;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-618.107,0,-530.845:440:207:233:8709:7672:207,233 0/1:-283.608,0,-215.208:188:83:105:3937:3148 0/1:-626.373,0,-676.429:504:263:241:9005:9580 0/1:-703.083,0,-579.26:487:226:261:9840:8426:226,261 0/1:-730.206,0,-787.664:580:296:283:10513:11135 0/1:-720.795,0,-759.781:569:290:277:10390:10844:290,277 . 0/1:-816.514,0,-856.466:645:322:320:11749:12158 0/1:-528.088,0,-608.027:434:230:203:7627:8546 1/1:-1450.55,-135.765,0:453:0:451:16821:0:0,451 0/1:-647.389,0,-621.519:488:237:250:9268:8895:237,250 0/1:-740.22,0,-562.832:514:229:285:10366:8296 . 0/1:-561.621,0,-633.507:470:245:224:8207:8972 1/1:-1306.68,-120.713,0:401:0:401:15121:0 0/1:-507.577,0,-724.779:484:278:203:7563:10161 0/1:-603.794,0,-641.168:469:241:228:8636:9061:241,228 0/1:-699.459,0,-816.321:572:305:267:10098:11504 1/1:-900.046,-82.6948,0:280:1:278:10435:15 . 0/1:-668.87,0,-587.843:478:225:253:9450:8488:225,253 1/1:-554.073,-52.3792,0:174:0:174:6407:0:0,174 1/1:-553.775,-52.0782,0:173:0:173:6404:0 . 1/1:-695.828,-63.8184,0:213:0:212:8076:0:0,212 0/1:-921.435,0,-730.297:638:289:348:12959:10708:289,348 1/1:-1636.66,-159.847,0:535:0:531:19016:0 . . 0/1:-826.653,0,-771.892:637:315:320:11772:11151 1/1:-1313.86,-122.82,0:409:0:408:15220:0 . 0/1:-588.85,0,-591.701:451:226:224:8382:8413 0/1:-562.065,0,-502.039:411:194:217:8003:7237 1/1:-1189.37,-107.959,0:371:1:370:13836:39 . 0/1:-531.899,0,-566.597:423:216:207:7675:8034 +chr20 61048549 . G A 5929.83 . AB=0.475921;ABP=4.78808;AC=38;AF=0.5;AN=58;AO=168;CIGAR=1X;DP=9706;DPB=353;DPRA=0;EPP=3.47562;EPPR=8.18662;GTI=0;LEN=1;MEANALT=1;MQM=41.4762;MQMR=42;NS=1;NUMALT=1;ODDS=942.445;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6103;QR=6686;RO=185;RPL=98;RPP=13.1438;RPPR=17.389;RPR=70;RUN=1;SAF=75;SAP=7.19814;SAR=93;SF=0,1,2,3,5,6,8,10,11,12,13,15,16,17,18,19,20,21,22,24,25,26,28,30,32,33,34,35,36;SRF=83;SRP=7.24761;SRR=102;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-417.958,0,-476.461:353:185:168:6103:6686:185,168 0/1:-183.211,0,-193.327:148:75:73:2652:2729 1/1:-1086.62,-109.274,0:365:0:363:12566:0 1/1:-1029.84,-99.0001,0:338:2:334:11997:24:2,334 . 0/1:-691.889,0,-585.565:509:239:269:9901:8501:239,269 0/1:-313.049,0,-371.2:272:145:127:4545:5197:145,127 . 0/1:-457.853,0,-407.45:344:163:181:6539:5878 . 0/1:-375.648,0,-414.337:316:166:149:5439:5899:166,149 1/1:-1252.02,-123.121,0:410:0:409:14483:0 0/1:-597.864,0,-699.67:523:276:246:8854:9903:276,246 1/1:-1219.35,-120.412,0:401:0:400:14042:0 . 0/1:-424.623,0,-586.039:413:234:179:6396:8261 0/1:-459.119,0,-362.351:325:148:177:6428:5283:148,177 0/1:-525.452,0,-541.544:428:220:208:7591:7727 1/1:-660.485,-57.6706,0:219:3:215:7723:90 0/1:-489.233,0,-571.339:429:228:200:7115:8111 0/1:-588.826,0,-566.592:461:227:234:8419:8174:227,234 0/1:-284.71,0,-79.269:144:39:104:3781:1401:39,104 0/1:-165.131,0,-197.421:147:77:68:2411:2767 . 0/1:-210.483,0,-228.984:174:91:83:3025:3239:91,83 0/1:-676.155,0,-754.219:579:298:281:9863:10679:298,281 1/1:-1231.15,-125.174,0:425:1:419:14209:14 . 1/1:-740.788,-73.4513,0:244:0:244:8551:0 . 1/1:-885.555,-84.8905,0:282:0:282:10269:0 . 0/1:-471.569,0,-338.935:323:140:183:6580:5001 0/1:-393.843,0,-346.773:300:141:158:5614:5019 1/1:-1077.75,-102.651,0:342:0:341:12445:0 0/1:-198.601,0,-189.855:153:75:78:2839:2701 0/1:-358.692,0,-483.49:339:191:147:5345:6804 +chr20 61050223 . C A 20.82 . AB=0.666667;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=3;DPB=3;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1.33013;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=64;QR=38;RO=1;RPL=2;RPP=7.35324;RPPR=5.18177;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=11;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.G355T:p.A119S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.451;SIFT_converted_rankscore=0.090;SIFT_pred=T;Polyphen2_HDIV_score=0.121;Polyphen2_HDIV_rankscore=0.251;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.06;Polyphen2_HVAR_rankscore=0.253;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.003;LRT_pred=U;MutationTaster_score=0.987;MutationTaster_converted_rankscore=0.245;MutationTaster_pred=N;MutationAssessor_score=1.535;MutationAssessor_score_rankscore=0.390;MutationAssessor_pred=L;FATHMM_score=-4.81;FATHMM_converted_rankscore=0.982;FATHMM_pred=D;PROVEAN_score=-0.22;PROVEAN_converted_rankscore=0.105;PROVEAN_pred=N;VEST3_score=0.036;VEST3_rankscore=0.016;MetaSVM_score=0.408;MetaSVM_rankscore=0.892;MetaSVM_pred=D;MetaLR_score=0.747;MetaLR_rankscore=0.914;MetaLR_pred=D;M-CAP_score=0.818;M-CAP_rankscore=0.986;M-CAP_pred=D;REVEL_score=0.266;REVEL_rankscore=0.584;MutPred_score=0.465;MutPred_rankscore=0.536;CADD_raw=2.136;CADD_raw_rankscore=0.318;CADD_phred=17.09;DANN_score=0.935;DANN_rankscore=0.227;fathmm-MKL_coding_score=0.659;fathmm-MKL_coding_rankscore=0.326;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.758;Eigen-PC-raw=-0.638;GenoCanyon_score=0.997;GenoCanyon_score_rankscore=0.349;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=0.184;GERP++_RS_rankscore=0.143;phyloP100way_vertebrate=0.458;phyloP100way_vertebrate_rankscore=0.214;phyloP20way_mammalian=0.830;phyloP20way_mammalian_rankscore=0.338;phastCons100way_vertebrate=0.631;phastCons100way_vertebrate_rankscore=0.278;phastCons20way_mammalian=0.535;phastCons20way_mammalian_rankscore=0.277;SiPhy_29way_logOdds=1.020;SiPhy_29way_logOdds_rankscore=0.014;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=.;Kaviar_AC=.;Kaviar_AN=.;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\x3d98.606776;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 0/1:-5.02846,0,-2.75139:3:1:2:64:38 . . . . . . . . . . . . . . . . . . . . . . . . . +chr20 61050238 . T C 17.49 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.99906;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=71;QR=75;RO=2;RPL=2;RPP=7.35324;RPPR=7.35324;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=9;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=GATA5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=GATA5:NM_080473:exon2:c.A340G:p.S114G;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;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=0.795;LRT_converted_rankscore=0.094;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=N;MutationAssessor_score=-0.79;MutationAssessor_score_rankscore=0.016;MutationAssessor_pred=N;FATHMM_score=-4.59;FATHMM_converted_rankscore=0.978;FATHMM_pred=D;PROVEAN_score=0.21;PROVEAN_converted_rankscore=0.048;PROVEAN_pred=N;VEST3_score=0.016;VEST3_rankscore=0.003;MetaSVM_score=-0.026;MetaSVM_rankscore=0.817;MetaSVM_pred=T;MetaLR_score=0.669;MetaLR_rankscore=0.885;MetaLR_pred=D;M-CAP_score=0.373;M-CAP_rankscore=0.928;M-CAP_pred=D;REVEL_score=0.199;REVEL_rankscore=0.487;MutPred_score=0.377;MutPred_rankscore=0.392;CADD_raw=-0.649;CADD_raw_rankscore=0.047;CADD_phred=0.095;DANN_score=0.593;DANN_rankscore=0.060;fathmm-MKL_coding_score=0.022;fathmm-MKL_coding_rankscore=0.064;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.174;Eigen-PC-raw=-1.160;GenoCanyon_score=0.998;GenoCanyon_score_rankscore=0.359;integrated_fitCons_score=0.598;integrated_fitCons_score_rankscore=0.340;integrated_confidence_value=0;GERP++_RS=-1.07;GERP++_RS_rankscore=0.094;phyloP100way_vertebrate=0.470;phyloP100way_vertebrate_rankscore=0.216;phyloP20way_mammalian=-1.194;phyloP20way_mammalian_rankscore=0.016;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.000;phastCons20way_mammalian_rankscore=0.016;SiPhy_29way_logOdds=5.809;SiPhy_29way_logOdds_rankscore=0.176;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=.;Kaviar_AC=.;Kaviar_AN=.;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\x3d97.938993;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-5.36686,0,-5.66929:4:2:2:71:75:2,2 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr21 35742799 . A G 2657.03 . AB=0.515284;ABP=3.47494;AC=2;AF=0.5;AN=4;AO=118;CIGAR=1X;DP=411;DPB=229;DPRA=0;EPP=26.8597;EPPR=8.06391;GTI=0;LEN=1;MEANALT=2;MQM=41.9661;MQMR=41.9818;NS=1;NUMALT=1;ODDS=618.038;PAIRED=0.991525;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4294;QR=4088;RO=110;RPL=39;RPP=32.454;RPPR=34.5954;RPR=79;RUN=1;SAF=80;SAP=35.472;SAR=38;SF=12,32;SRF=82;SRP=60.5741;SRR=28;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE2:NM_172201:exon2:c.A22G:p.T8A;1000g2015aug_all=0.00139776;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2234916;CLNALLELEID=78511;CLNDN=Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.0;SIFT_converted_rankscore=0.912;SIFT_pred=D;Polyphen2_HDIV_score=0.999;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=0.000;LRT_converted_rankscore=0.843;LRT_pred=D;MutationTaster_score=0.996;MutationTaster_converted_rankscore=0.430;MutationTaster_pred=D;MutationAssessor_score=2.685;MutationAssessor_score_rankscore=0.788;MutationAssessor_pred=M;FATHMM_score=-3.29;FATHMM_converted_rankscore=0.937;FATHMM_pred=D;PROVEAN_score=-2.63;PROVEAN_converted_rankscore=0.564;PROVEAN_pred=D;VEST3_score=0.824;VEST3_rankscore=0.812;MetaSVM_score=0.702;MetaSVM_rankscore=0.932;MetaSVM_pred=D;MetaLR_score=0.766;MetaLR_rankscore=0.920;MetaLR_pred=D;M-CAP_score=0.221;M-CAP_rankscore=0.878;M-CAP_pred=D;REVEL_score=0.567;REVEL_rankscore=0.826;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.000;CADD_raw_rankscore=0.538;CADD_phred=23.6;DANN_score=0.995;DANN_rankscore=0.667;fathmm-MKL_coding_score=0.993;fathmm-MKL_coding_rankscore=0.945;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.501;Eigen-PC-raw=0.474;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=5.53;GERP++_RS_rankscore=0.825;phyloP100way_vertebrate=7.927;phyloP100way_vertebrate_rankscore=0.869;phyloP20way_mammalian=1.199;phyloP20way_mammalian_rankscore=0.960;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.968;phastCons20way_mammalian_rankscore=0.456;SiPhy_29way_logOdds=15.319;SiPhy_29way_logOdds_rankscore=0.737;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0069;ExAC_nontcga_ALL=0.0037;ExAC_nontcga_AFR=0.0008;ExAC_nontcga_AMR=0.0028;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0053;ExAC_nontcga_NFE=0.0055;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0009;AF=0.0039;AF_popmax=0.0062;AF_male=0.0030;AF_female=0.0052;AF_raw=0.0039;AF_afr=0.0008;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0062;AF_fin=0.0035;AF_asj=0.0034;AF_oth=0.0055;non_topmed_AF_popmax=0.0059;non_neuro_AF_popmax=0.0065;non_cancer_AF_popmax=.;controls_AF_popmax=0.0062;Kaviar_AF=0.0040426;Kaviar_AC=625;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.828374;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-303.134,0,-284.766:229:110:118:4294:4088:110,118 . . . . . . . . . . . . . . . . . . . 0/1:-258.048,0,-205.895:182:83:99:3626:3005 . . . . +chr21 35821821 . T C 7773.18 . AB=0;ABP=0;AC=49;AF=1;AN=62;AO=369;CIGAR=1X;DP=11169;DPB=369;DPRA=0;EPP=5.13469;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9946;MQMR=0;NS=1;NUMALT=1;ODDS=516.148;PAIRED=0.99729;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=13497;QR=0;RO=0;RPL=229;RPP=49.6234;RPPR=0;RPR=140;RUN=1;SAF=130;SAP=72.927;SAR=239;SF=0,2,3,4,5,6,7,8,9,10,13,14,15,16,17,19,20,21,22,24,25,26,27,28,30,31,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1171.68,-111.08,0:369:0:369:13497:0:0,369 . 0/1:-557.577,0,-443.907:408:182:222:7832:6554 0/1:-465.312,0,-465.684:364:182:182:6624:6648:182,182 1/1:-1406.18,-135.162,0:449:0:449:16229:0 0/1:-624.369,0,-594.426:474:230:244:8860:8588:230,244 1/1:-808.576,-77.3647,0:257:0:257:9326:0:0,257 0/1:-500.375,0,-623.619:453:244:207:7350:8775 1/1:-1009.6,-96.6306,0:321:0:321:11632:0 1/1:-1028.55,-98.7378,0:329:0:328:11847:0:0,328 1/1:-1001.54,-94.5294,0:319:1:318:11579:15:1,318 . . 1/1:-1354.03,-129.506,0:436:1:434:15617:16 1/1:-975.111,-93.3193,0:310:0:310:11252:0 0/1:-494.352,0,-555.597:412:212:198:7139:7900 0/1:-481.778,0,-529.494:394:201:191:6939:7494:201,191 1/1:-1360.26,-130.948,0:435:0:435:15715:0 . 0/1:-441.191,0,-504.372:386:199:186:6420:7192 0/1:-655.931,0,-676.057:524:266:258:9394:9631:266,258 1/1:-594.505,-58.0988,0:193:0:193:6832:0:0,193 1/1:-602.436,-59.6039,0:198:0:198:6939:0 . 1/1:-554.914,-53.8844,0:179:0:179:6392:0:0,179 1/1:-1750.31,-170.243,0:571:1:569:20235:15:1,569 0/1:-444.657,0,-601.734:426:239:185:6583:8432 0/1:-536.862,0,-544.489:434:215:217:7699:7790:215,217 0/1:-327.607,0,-383.8:291:152:139:4793:5448 . 1/1:-1004.2,-98.4368,0:327:0:327:11557:0 1/1:-848.334,-83.0843,0:276:0:276:9768:0 0/1:-462.42,0,-599.189:423:230:192:6777:8423 0/1:-321.261,0,-488.01:315:180:133:4815:6740 1/1:-1059.54,-102.049,0:339:0:339:12217:0 1/1:-537.998,-52.6803,0:175:0:175:6189:0 1/1:-1179.12,-113.494,0:382:1:381:13612:15 +chr22 19867744 . G A 5075.84 . AB=0.577586;ABP=21.2057;AC=1;AF=0.5;AN=2;AO=201;CIGAR=1X;DP=348;DPB=348;DPRA=0;EPP=12.0959;EPPR=8.34296;GTI=0;LEN=1;MEANALT=1;MQM=41.5771;MQMR=41.8231;NS=1;NUMALT=1;ODDS=779.11;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7228;QR=5247;RO=147;RPL=106;RPP=4.3175;RPPR=25.4784;RPR=95;RUN=1;SAF=119;SAP=17.8001;SAR=82;SF=28;SRF=86;SRP=12.2428;SRR=61;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=unknown;AAChange.refGene=UNKNOWN;1000g2015aug_all=0.00858626;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35099271;CLNALLELEID=243643;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=.;ExAC_nontcga_ALL=0.0027;ExAC_nontcga_AFR=0.0308;ExAC_nontcga_AMR=0.0013;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.688e-05;ExAC_nontcga_OTH=0.0015;ExAC_nontcga_SAS=0.0001;AF=0.0096;AF_popmax=0.0337;AF_male=0.0102;AF_female=0.0088;AF_raw=0.0096;AF_afr=0.0337;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=0.0337;non_neuro_AF_popmax=0.0296;non_cancer_AF_popmax=.;controls_AF_popmax=0.0304;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=Name\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.300296;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-519.042,0,-350.812:348:147:201:7228:5247 . . . . . . . . +chr22 19867771 . C T 8140.19 . AB=0;ABP=0;AC=12;AF=1;AN=20;AO=370;CIGAR=1X;DP=5395;DPB=374;DPRA=0;EPP=13.3629;EPPR=3.73412;GTI=0;LEN=1;MEANALT=2;MQM=41.8432;MQMR=36;NS=1;NUMALT=1;ODDS=500.571;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13275;QR=45;RO=3;RPL=152;RPP=28.575;RPPR=3.73412;RPR=218;RUN=1;SAF=244;SAP=84.7281;SAR=126;SF=6,9,11,12,18,23,25,29,32,35;SRF=3;SRP=9.52472;SRR=0;TYPE=snp;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\x3dOREG1513433|N/A|EGR1|PAZAR,OREG1944311|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=Name\x3d97.876249;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 1/1:-1148.33,-108.289,0:374:3:370:13275:45:3,370 . . 0/1:-557.739,0,-646.973:472:245:225:8053:9103:245,225 . 0/1:-737.04,0,-689.587:575:271:301:10483:9961 0/1:-851.698,0,-1042.46:746:401:343:12422:14688:401,343 . . . . . 0/1:-424.163,0,-505.893:367:194:172:6141:7149 . . . . 0/1:-796.981,0,-851.95:642:327:313:11454:12089 . 1/1:-2126.69,-202.311,0:714:5:703:24616:123:5,703 . . . 0/1:-786.566,0,-1006.56:739:397:338:11701:14211 . . 0/1:-535.822,0,-770.146:511:289:222:7935:10669 . . 0/1:-291.02,0,-360.061:255:136:119:4237:5040 . +chr22 19868218 . A G 9249.12 . AB=0;ABP=0;AC=52;AF=1;AN=64;AO=179;CIGAR=1X;DP=12882;DPB=179;DPRA=0;EPP=3.60473;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.1564;MQMR=0;NS=1;NUMALT=1;ODDS=252.752;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6504;QR=0;RO=0;RPL=136;RPP=107.932;RPPR=0;RPR=43;RUN=1;SAF=92;SAP=3.31358;SAR=87;SF=1,2,3,4,5,6,8,9,10,11,12,13,16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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\x3dOREG1944311|N/A|ZNF263|PAZAR,OREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.253025;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-557.868,-53.8844,0:179:0:179:6504:0 1/1:-1327.55,-129.443,0:430:0:430:15397:0 0/1:-591.663,0,-601.435:475:240:235:8547:8714:240,235 0/1:-730.158,0,-682.147:558:271:287:10347:9848 0/1:-724.552,0,-516.374:487:208:279:10056:7648:208,279 1/1:-1087,-103.855,0:345:0:345:12592:0:0,345 . 1/1:-1176.44,-112.886,0:375:0:375:13615:0 0/1:-623.767,0,-384.762:400:158:242:8756:5881:158,242 1/1:-1447.21,-139.377,0:464:0:463:16912:0:0,463 1/1:-1392.14,-135.765,0:451:0:451:16105:0 1/1:-1870.66,-179.715,0:597:0:597:21750:0:0,597 0/1:-420.381,0,-539.619:390:214:175:6276:7642 . . 1/1:-1402,-130.906,0:447:1:446:16298:38:1,446 1/1:-1635.25,-156.536,0:520:0:520:18916:0 1/1:-816.481,-78.8699,0:262:0:262:9539:0 0/1:-592.017,0,-741.09:526:287:239:8724:10391 1/1:-1769.2,-167.975,0:558:0:558:20491:0:0,558 1/1:-541.223,-52.0782,0:173:0:173:6213:0:0,173 1/1:-513.944,-49.67,0:165:0:165:5934:0 0/1:-642.869,0,-778.304:552:296:256:9343:10934 1/1:-642.77,-61.1091,0:203:0:203:7444:0:0,203 1/1:-1726.46,-167.674,0:557:0:557:20034:0:0,557 0/1:-518.32,0,-661.21:489:265:224:7748:9317 0/1:-600.729,0,-629.035:488:245:243:8672:8961:245,243 1/1:-803.615,-80.074,0:266:0:266:9386:0 1/1:-1608.49,-157.091,0:537:2:535:18754:49 0/1:-448.834,0,-519.199:377:198:179:6514:7319 0/1:-282.156,0,-301.872:233:119:114:4077:4278 1/1:-1330.16,-127.637,0:424:0:424:15442:0 . 0/1:-464.297,0,-383.527:333:154:179:6521:5652 1/1:-765.38,-71.9462,0:239:0:239:8810:0 1/1:-1187.93,-114.993,0:382:0:382:13860:0 +chr22 19868255 . AGGGGGGCCA AGGGGGCCA 3880.62 . AB=0;ABP=0;AC=12;AF=1;AN=20;AO=228;CIGAR=1M1D8M;DP=2802;DPB=207;DPRA=0;EPP=3.0484;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=41.307;MQMR=0;NS=1;NUMALT=1;ODDS=320.68;PAIRED=0.969298;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7899;QR=0;RO=0;RPL=170;RPP=122.479;RPPR=0;RPR=58;RUN=1;SAF=67;SAP=87.1644;SAR=161;SF=6,9,11,12,18,23,25,29,32,35;SRF=0;SRP=0;SRR=0;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 1/1:-686.732,-68.6348,0:230:0:228:7899:0:0,228 . . 0/1:-360.828,0,-210.591:240:91:144:4999:3237:91,144 . 0/1:.,.,-306.968:321:146:165:5673:5041 0/1:-457.97,0,-467.481:381:185:189:6586:6670:185,189 . . . . . 0/1:.,.,-177.207:161:82:79:2673:2891 . . . . 0/1:.,.,-424.158:361:187:169:5959:6661 . 1/1:-929.336,-90.378,0:319:1:310:10726:37:1,310 . . . 0/1:.,.,-361.979:360:167:180:5956:5840 . . 0/1:.,.,-342.743:277:141:127:4413:5086 . . 0/1:.,.,-154.89:152:68:81:2879:2499 . +chr22 19870831 . C T 2110.12 . AB=0;ABP=0;AC=24;AF=1;AN=40;AO=42;CIGAR=1X;DP=2913;DPB=42;DPRA=0;EPP=3.21711;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.5;MQMR=0;NS=1;NUMALT=1;ODDS=62.8295;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1457;QR=0;RO=0;RPL=7;RPP=43.5445;RPPR=0;RPR=35;RUN=1;SAF=27;SAP=10.4553;SAR=15;SF=1,2,3,4,8,10,11,16,17,18,19,20,21,22,24,27,29,32,35,36;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . 1/1:-126.57,-12.6433,0:42:0:42:1457:0 0/1:-256.656,0,-147.064:159:63:96:3547:2241 0/1:-219.097,0,-171.723:160:70:89:3146:2528:70,89 0/1:-231.069,0,-218.714:179:87:92:3280:3139 . . . 0/1:-162.485,0,-82.5502:99:35:64:2230:1293 . 1/1:-408.261,-37.9809,0:132:1:130:4725:16:1,130 0/1:-309.697,0,-241.784:228:104:122:4352:3590 . . . . 0/1:-129.676,0,-235.247:146:91:54:2002:3231:91,54 1/1:-561.279,-53.4551,0:183:1:181:6508:15 0/1:-121.665,0,-143.089:103:54:49:1758:2003 0/1:-204.518,0,-287.772:197:112:85:3047:4008 0/1:-330.127,0,-144.207:191:64:126:4475:2323:64,126 0/1:-103.335,0,-105.047:83:40:43:1466:1497:40,43 0/1:-89.2541,0,-94.13:75:36:38:1279:1340 . 1/1:-202.458,-13.4609,0:68:2:66:2415:77:2,66 . . 0/1:-269.08,0,-266.782:221:108:113:3857:3853:108,113 . 0/1:-325.215,0,-325.792:265:132:131:4664:4689 . . 0/1:-216.433,0,-165.302:153:67:86:3023:2433 . . 0/1:-97.2377,0,-81.5611:70:33:37:1364:1178 0/1:-183.327,0,-216.027:159:83:76:2661:3056 +chr22 19870995 . CAGAGAGG CAGAGG 3059.05 . AB=0.534694;ABP=5.57175;AC=1;AF=0.5;AN=2;AO=131;CIGAR=1M2D5M;DP=245;DPB=226.5;DPRA=0;EPP=30.8748;EPPR=8.98702;GTI=0;LEN=2;MEANALT=8;MQM=41.6336;MQMR=41.4476;NS=1;NUMALT=1;ODDS=508.563;PAIRED=1;PAIREDR=0.980952;PAO=21.5;PQA=716;PQR=436;PRO=13.5;QA=4382;QR=3696;RO=105;RPL=75;RPP=8.99428;RPPR=22.8844;RPR=56;RUN=1;SAF=64;SAP=3.15949;SAR=67;SF=2;SRF=42;SRP=12.1305;SRR=63;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;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=Name\x3dOREG1513433|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . 0/1:-316.705,0,-231.603:245:105:131:4382:3696 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr22 19882976 . G T 1779.49 . AB=0.525547;ABP=3.78696;AC=1;AF=0.5;AN=2;AO=72;CIGAR=1X;DP=137;DPB=137;DPRA=0;EPP=3.0103;EPPR=3.31097;GTI=0;LEN=1;MEANALT=1;MQM=41.5;MQMR=41.6308;NS=1;NUMALT=1;ODDS=348.957;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2628;QR=2312;RO=65;RPL=26;RPP=15.074;RPPR=12.665;RPR=46;RUN=1;SAF=32;SAP=4.9405;SAR=40;SF=28;SRF=43;SRP=17.7429;SRR=22;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon11:c.C903A:p.T301T;1000g2015aug_all=0.0123802;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs35695986;CLNALLELEID=243645;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=0.0007;ExAC_nontcga_ALL=0.0033;ExAC_nontcga_AFR=0.0352;ExAC_nontcga_AMR=0.0020;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0005;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=6.095e-05;AF=0.0106;AF_popmax=0.0376;AF_male=0.0110;AF_female=0.0101;AF_raw=0.0106;AF_afr=0.0376;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0375;non_neuro_AF_popmax=0.0431;non_cancer_AF_popmax=.;controls_AF_popmax=0.0408;Kaviar_AF=0.003357;Kaviar_AC=519;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:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-185.674,0,-160.281:137:65:72:2628:2312 . . . . . . . . +chr22 19882984 . T G 2788.55 . AB=0.5;ABP=3.0103;AC=15;AF=0.5;AN=24;AO=96;CIGAR=1X;DP=1983;DPB=192;DPRA=0;EPP=7.44372;EPPR=4.13032;GTI=0;LEN=1;MEANALT=2;MQM=41.9792;MQMR=41.5579;NS=1;NUMALT=1;ODDS=520.796;PAIRED=1;PAIREDR=0.978947;PAO=0;PQA=0;PQR=0;PRO=0;QA=3361;QR=3534;RO=95;RPL=35;RPP=18.3011;RPPR=3.03316;RPR=61;RUN=1;SAF=50;SAP=3.37221;SAR=46;SF=3,6,9,14,18,19,20,28,33,34,35,36;SRF=54;SRP=6.87324;SRR=41;TYPE=snp;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\x3dOREG1513448|N/A|EGR1|PAZAR,OREG1944307|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-234.698,0,-246.752:192:95:96:3361:3534:95,96 . . 1/1:-405.187,-38.8329,0:129:0:129:4667:0:0,129 . . 0/1:-200.617,0,-232.808:168:89:79:2893:3291:89,79 . . . . 0/1:-201.393,0,-253.893:176:95:81:2927:3551 . . . 0/1:-106.303,0,-156.64:101:58:43:1574:2160 1/1:-603.126,-52.4286,0:195:2:193:7041:68 1/1:-854.922,-82.4822,0:274:0:274:9913:0:0,274 . . . . . . . 0/1:-174.374,0,-191.601:145:73:71:2502:2741 . . . . 0/1:-230.31,0,-199.639:169:79:89:3237:2888 0/1:-116.671,0,-218.737:130:80:50:1786:2981 0/1:-90.2297,0,-148.287:92:55:37:1369:2031 0/1:-222.947,0,-317.688:212:119:93:3293:4411 +chr22 19885548 . G T 706.14 . AB=0.363636;ABP=8.34028;AC=15;AF=0.5;AN=24;AO=12;CIGAR=1X;DP=516;DPB=33;DPRA=0;EPP=3.73412;EPPR=3.94093;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=56.7033;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=459;QR=764;RO=21;RPL=5;RPP=3.73412;RPPR=8.07707;RPR=7;RUN=1;SAF=6;SAP=3.0103;SAR=6;SF=3,6,9,14,18,19,20,28,33,34,35,36;SRF=10;SRP=3.1137;SRR=11;TYPE=snp;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\x3dOREG1944316|N/A|ZNF263|PAZAR,OREG1513442|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-30.0839,0,-56.7503:33:21:12:459:764:21,12 . . 1/1:-126.448,-12.0412,0:40:0:40:1453:0:0,40 . . 0/1:-102.739,0,-60.4148:65:26:39:1421:915:26,39 . . . . 0/1:-16.2271,0,-43.2532:24:17:7:267:604 . . . 0/1:-16.6013,0,-38.2539:22:15:7:264:512 1/1:-174.13,-16.8577,0:57:0:56:2003:0 1/1:-212.566,-19.8725,0:70:1:69:2473:12:1,69 . . . . . . . 0/1:-37.0597,0,-57.1664:39:23:16:555:787 . . . . 0/1:-36.1617,0,-83.8796:48:32:16:581:1128 0/1:-77.4498,0,-29.7879:43:14:29:1037:487 0/1:-22.2357,0,-14.8315:15:6:9:303:218 0/1:-66.0781,0,-84.215:60:33:27:965:1172 +chr22 19898886 . C T 4994.95 . AB=0.459283;ABP=7.43105;AC=10;AF=0.5;AN=18;AO=141;CIGAR=1X;DP=3461;DPB=307;DPRA=0;EPP=4.25774;EPPR=4.60271;GTI=0;LEN=1;MEANALT=2;MQM=41.9858;MQMR=41.9879;NS=1;NUMALT=1;ODDS=779.244;PAIRED=0.992908;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5252;QR=6101;RO=165;RPL=20;RPP=160.111;RPPR=171.056;RPR=121;RUN=1;SAF=79;SAP=7.46105;SAR=62;SF=0,4,5,7,15,20,23,27,30;SRF=87;SRP=4.0763;SRR=78;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-363.545,0,-436.73:307:165:141:5252:6101:165,141 . . . 0/1:-396.911,0,-503.85:349:190:159:5798:7028 0/1:-566.35,0,-657.61:474:251:223:8165:9228:251,223 . 0/1:-510.861,0,-663.964:465:255:210:7535:9297 . . . . . . . 1/1:-1043.74,-98.9188,0:347:2:342:12092:52 . . . . 0/1:-539.958,0,-445.444:385:178:206:7572:6469:178,206 . . 0/1:-470.268,0,-518.593:385:199:185:6750:7311 . . . 0/1:-578.041,0,-616.53:469:238:230:8292:8728:238,230 . . 0/1:-320.42,0,-378.58:280:148:131:4659:5323 . . . . . . +chr22 19902718 . ATG AG 2423.90 . AB=0.546392;ABP=6.63688;AC=1;AF=0.5;AN=2;AO=106;CIGAR=1M1D1M;DP=194;DPB=163.333;DPRA=0;EPP=3.09224;EPPR=3.23494;GTI=0;LEN=1;MEANALT=2;MQM=41.434;MQMR=41.977;NS=1;NUMALT=1;ODDS=452.039;PAIRED=0;PAIREDR=0;PAO=7;PQA=6.5;PQR=6.5;PRO=7;QA=3651;QR=3148;RO=87;RPL=47;RPP=5.96022;RPPR=44.9671;RPR=59;RUN=1;SAF=65;SAP=14.81;SAR=41;SF=28;SRF=46;SRP=3.63429;SRR=41;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00778754;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs200848663;CLNALLELEID=507489;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0025;ExAC_nontcga_AFR=0.0301;ExAC_nontcga_AMR=0.0014;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.022e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=6.898e-05;AF=0.0080;AF_popmax=0.0279;AF_male=0.0086;AF_female=0.0073;AF_raw=0.0081;AF_afr=0.0279;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0002;AF_fin=0;AF_asj=0;AF_oth=0.0028;non_topmed_AF_popmax=0.0282;non_neuro_AF_popmax=0.0242;non_cancer_AF_popmax=.;controls_AF_popmax=0.0257;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\x3dOREG1513440|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-250.852,0,-207.568:194:87:106:3651:3148 . . . . . . . . +chr22 19903290 . C G 2586.56 . AB=0.630303;ABP=27.344;AC=1;AF=0.5;AN=2;AO=104;CIGAR=1X;DP=165;DPB=165;DPRA=0;EPP=8.35546;EPPR=4.7546;GTI=0;LEN=1;MEANALT=1;MQM=41.625;MQMR=42;NS=1;NUMALT=1;ODDS=316.553;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3733;QR=2279;RO=61;RPL=43;RPP=9.77527;RPPR=3.33068;RPR=61;RUN=1;SAF=73;SAP=39.8418;SAR=31;SF=28;SRF=41;SRP=18.709;SRR=20;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TXNRD2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TXNRD2:NM_001282512:exon6:c.G526C:p.E176Q;1000g2015aug_all=0.0247604;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs61736929;CLNALLELEID=378618;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=0.08;SIFT_converted_rankscore=0.369;SIFT_pred=T;Polyphen2_HDIV_score=0.836;Polyphen2_HDIV_rankscore=0.479;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.482;Polyphen2_HVAR_rankscore=0.483;Polyphen2_HVAR_pred=P;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.548;MutationTaster_pred=D;MutationAssessor_score=2.21;MutationAssessor_score_rankscore=0.624;MutationAssessor_pred=M;FATHMM_score=0.34;FATHMM_converted_rankscore=0.582;FATHMM_pred=T;PROVEAN_score=-1.91;PROVEAN_converted_rankscore=0.444;PROVEAN_pred=N;VEST3_score=0.046;VEST3_rankscore=0.312;MetaSVM_score=-1.134;MetaSVM_rankscore=0.016;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=0.101;REVEL_rankscore=0.294;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.850;CADD_raw_rankscore=0.403;CADD_phred=21.6;DANN_score=0.996;DANN_rankscore=0.717;fathmm-MKL_coding_score=0.960;fathmm-MKL_coding_rankscore=0.667;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.260;Eigen-PC-raw=0.289;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=4.9;GERP++_RS_rankscore=0.635;phyloP100way_vertebrate=2.590;phyloP100way_vertebrate_rankscore=0.456;phyloP20way_mammalian=0.831;phyloP20way_mammalian_rankscore=0.339;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.944;phastCons20way_mammalian_rankscore=0.418;SiPhy_29way_logOdds=18.060;SiPhy_29way_logOdds_rankscore=0.892;Interpro_domain=FAD/NAD(P)-binding_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.8753;dbscSNV_RF_SCORE=0.644;esp6500siv2_ea=0.0002;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0751;ExAC_nontcga_AMR=0.0036;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=9.202e-05;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.096e-05;AF=0.0215;AF_popmax=0.0763;AF_male=0.0216;AF_female=0.0215;AF_raw=0.0216;AF_afr=0.0763;AF_sas=.;AF_amr=0.0035;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0762;non_neuro_AF_popmax=0.0754;non_cancer_AF_popmax=.;controls_AF_popmax=0.0763;Kaviar_AF=0.0063259;Kaviar_AC=978;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=Name\x3d95.449205;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-272.59,0,-147.887:165:61:104:3733:2279 . . . . . . . . +chr22 19905801 . CG CA 3062.78 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=137;CIGAR=1M1X;DP=232;DPB=155;DPRA=0;EPP=54.5075;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=40.4891;MQMR=0;NS=1;NUMALT=1;ODDS=125.289;PAIRED=0.992701;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5096;QR=0;RO=0;RPL=109;RPP=107.003;RPPR=0;RPR=28;RUN=1;SAF=69;SAP=3.02615;SAR=68;SF=0,24;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TXNRD2;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=Name\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-431.249,-41.2411,0:155:0:137:5096:0:0,137 . . . . . . . . . . . . . . . . . . . . . . . 1/1:-213.62,-21.0721,0:77:0:70:2574:0:0,70 . . . . . . . . . . . . +chr22 19905802 . G A 2637.44 . AB=0;ABP=0;AC=41;AF=1;AN=58;AO=58;CIGAR=1X;DP=4319;DPB=58;DPRA=0;EPP=36.7056;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.5172;MQMR=0;NS=1;NUMALT=1;ODDS=85.0102;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2105;QR=0;RO=0;RPL=48;RPP=57.0725;RPPR=0;RPR=10;RUN=1;SAF=34;SAP=6.75422;SAR=24;SF=1,2,3,4,5,6,7,8,9,10,12,13,15,17,18,19,20,21,22,26,27,28,29,30,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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\x3dOREG1513443|N/A|EGR1|PAZAR,OREG1944310|N/A|ZNF263|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-175.268,-17.4597,0:58:0:58:2105:0 0/1:-201.091,0,-187.858:165:80:85:2971:2791 1/1:-378.579,-37.9298,0:126:0:126:4501:0:0,126 1/1:-506.816,-49.8598,0:178:1:177:6050:39 0/1:-182.416,0,-208.962:164:87:76:2693:3056:87,76 1/1:-287.15,-30.7051,0:104:0:102:3467:0:0,102 0/1:-219.376,0,-214.35:186:91:95:3261:3175 0/1:-141.003,0,-108.634:109:49:60:2059:1654 0/1:-125.93,0,-170.024:128:73:55:1959:2485:73,55 0/1:-193.932,0,-129.557:136:59:77:2794:2000:59,77 . 0/1:-203.67,0,-235.793:190:99:90:3119:3471:99,90 0/1:-335.38,0,-284.423:269:127:142:4948:4336 . 1/1:-391.173,-40.6391,0:136:0:135:4638:0 . 1/1:-422.645,-44.2514,0:147:0:147:5060:0 0/1:-140.265,0,-73.3162:97:37:60:2039:1250 1/1:-502.441,-51.6625,0:174:1:173:6042:14 1/1:-433.639,-39.1707,0:140:1:139:5100:30:1,139 0/1:-201.769,0,-18.6219:89:15:73:2655:516:15,73 1/1:-309.775,-32.2102,0:108:0:107:3688:0 . . . 0/1:-226.092,0,-229.894:214:108:106:3464:3524 1/1:-844.838,-88.2018,0:293:0:293:10243:0:0,293 0/1:-119.855,0,-134.215:112:58:54:1874:1992 0/1:-331.757,0,-269.878:265:118:147:4948:4084 0/1:-140.204,0,-179.517:136:75:61:2175:2591 . 0/1:-141.782,0,-140.257:123:59:63:2185:2068 0/1:-159.085,0,-136.023:131:62:67:2356:2066 0/1:-120.83,0,-146.61:115:61:54:1848:2126 1/1:-205.297,-21.3731,0:71:0:71:2440:0 1/1:-453.328,-43.501,0:155:1:154:5380:32 +chr22 19906370 . G A 1660.06 . AB=0.496296;ABP=3.02638;AC=3;AF=0.5;AN=6;AO=67;CIGAR=1X;DP=440;DPB=135;DPRA=0;EPP=30.2671;EPPR=54.1038;GTI=0;LEN=1;MEANALT=1;MQM=41.7164;MQMR=42;NS=1;NUMALT=1;ODDS=362.134;PAIRED=0.985075;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2417;QR=2480;RO=68;RPL=20;RPP=26.6372;RPPR=13.3567;RPR=47;RUN=1;SAF=37;SAP=4.59839;SAR=30;SF=5,7,27;SRF=39;SRP=6.20364;SRR=29;TYPE=snp;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\x3dOREG1944310|N/A|ZNF263|PAZAR,OREG1513443|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-168.8,0,-174.929:135:68:67:2417:2480:68,67 . 0/1:-186,0,-171.568:147:70:77:2653:2492 . . . . . . . . . . . . . . . . . . . 0/1:-176.587,0,-185.199:158:77:77:2570:2658:77,77 . . . . . . . . . +chr22 19906511 . G A 1991.70 . AB=0.411765;ABP=14.5063;AC=12;AF=0.5;AN=20;AO=70;CIGAR=1X;DP=1336;DPB=170;DPRA=0;EPP=9.09042;EPPR=4.08507;GTI=0;LEN=1;MEANALT=2;MQM=41.4571;MQMR=42;NS=1;NUMALT=1;ODDS=379.634;PAIRED=0.971429;PAIREDR=0.979798;PAO=0;PQA=0;PQR=0;PRO=0;QA=2605;QR=3733;RO=99;RPL=42;RPP=9.09042;RPPR=7.94546;RPR=28;RUN=1;SAF=32;SAP=4.12706;SAR=38;SF=3,6,9,18,19,20,33,34,35,36;SRF=45;SRP=4.78696;SRR=54;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-173.548,0,-272.363:170:99:70:2605:3733:99,70 . . 1/1:-296.144,-22.2564,0:97:2:95:3497:76:2,95 . . 0/1:-144.067,0,-235.368:146:88:58:2167:3219:88,58 . . . . . . . . 0/1:-102.85,0,-114.81:88:44:43:1571:1660 1/1:-509.216,-47.3675,0:162:1:161:5918:14 0/1:-266.628,0,-232.716:192:88:103:3772:3356:88,103 . . . . . . . . . . . . 0/1:-146.015,0,-192.594:136:75:60:2220:2705 0/1:-120.291,0,-168.142:114:64:50:1834:2331 0/1:-100.273,0,-66.4332:63:27:36:1376:979 0/1:-210.812,0,-220.078:168:86:82:3052:3147 +chr22 19907099 . C A 8129.82 . AB=0;ABP=0;AC=29;AF=1;AN=44;AO=462;CIGAR=1X;DP=10214;DPB=463;DPRA=0;EPP=4.21354;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.7251;MQMR=42;NS=1;NUMALT=1;ODDS=634.336;PAIRED=0.974026;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=16895;QR=36;RO=1;RPL=145;RPP=142.06;RPPR=5.18177;RPR=317;RUN=1;SAF=236;SAP=3.48032;SAR=226;SF=0,1,2,3,4,8,10,12,13,15,17,20,21,22,24,26,27,29,30,32,35,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1458.21,-135.874,0:463:1:462:16895:36:1,462 1/1:-614.85,-58.0988,0:193:0:193:7086:0 0/1:-784.229,0,-631.767:572:262:310:11056:9233 0/1:-562.386,0,-629.578:468:243:225:8145:8892:243,225 1/1:-1999.51,-190.853,0:635:0:634:23131:0 . . . 0/1:-545.897,0,-499.196:411:197:213:7722:7163 . 0/1:-607.204,0,-690.958:508:266:242:8793:9703:266,242 . 0/1:-858.635,0,-939.6:708:370:338:12477:13248:370,338 0/1:-534.435,0,-626.905:467:247:219:7838:8817 . 1/1:-1525.81,-147.835,0:495:1:494:17794:12 . 1/1:-2119.97,-200.893,0:672:1:671:24493:14 . . 0/1:-752.466,0,-790.821:604:312:292:10799:11296:312,292 0/1:-325.55,0,-100.098:174:49:125:4356:1761:49,125 1/1:-483.081,-41.6625,0:161:2:159:5626:74 . 1/1:-700.204,-67.7318,0:225:0:225:8108:0:0,225 . 0/1:-644.009,0,-559.183:500:232:268:9218:8165 0/1:-781.312,0,-707.266:602:289:313:11173:10215:289,313 . 0/1:-740.493,0,-900.827:677:360:315:10930:12699 0/1:-462.475,0,-576.005:405:222:183:6741:8070 . 0/1:-546.461,0,-584.347:444:230:214:7846:8246 . . 0/1:-383.921,0,-329.966:277:131:146:5385:4757 0/1:-786.047,0,-607.81:553:244:309:10989:8953 +chr22 19907118 . G A 8910.15 . AB=0;ABP=0;AC=42;AF=1;AN=58;AO=463;CIGAR=1X;DP=12973;DPB=464;DPRA=0;EPP=26.6526;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.7257;MQMR=42;NS=1;NUMALT=1;ODDS=635.54;PAIRED=0.980562;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=16740;QR=37;RO=1;RPL=151;RPP=124.58;RPPR=5.18177;RPR=312;RUN=1;SAF=227;SAP=3.39019;SAR=236;SF=0,1,2,3,4,6,8,9,10,12,13,15,17,18,19,20,21,22,24,26,27,28,29,30,32,33,34,35,36;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1444.16,-136.097,0:464:1:463:16740:37:1,463 1/1:-572.951,-54.4864,0:181:0:181:6608:0 0/1:-701.878,0,-695.605:566:277:286:10077:9982 1/1:-1444.41,-137.828,0:465:1:461:16737:14:1,461 1/1:-1974.32,-186.76,0:629:2:626:22836:26 . 1/1:-1186.85,-114.993,0:382:0:382:13731:0:0,382 . 0/1:-546.506,0,-472.894:402:189:211:7696:6844 0/1:-561.232,0,-683.294:501:266:235:8253:9623:266,235 0/1:-610.609,0,-705.679:507:265:242:8843:9916:265,242 . 0/1:-805.432,0,-935.789:691:364:325:11751:13214:364,325 0/1:-501.717,0,-653.201:467:252:213:7424:9160 . 1/1:-1491.85,-145.397,0:485:0:483:17384:0 . 1/1:-1967.94,-190.552,0:634:0:633:22742:0 0/1:-341.804,0,-358.698:278:138:140:4922:5117 1/1:-1730.59,-170.383,0:566:0:566:20157:0 1/1:-1852.65,-177.273,0:600:2:596:21551:31:2,596 0/1:-322.75,0,-103.191:174:49:124:4332:1805:49,124 1/1:-458.004,-43.0469,0:155:1:153:5316:37 . 1/1:-692.654,-67.6968,0:230:1:228:8020:14:1,228 . 0/1:-626.675,0,-577.841:498:236:262:9027:8379 0/1:-751.592,0,-730.755:604:290:312:10860:10552:290,312 0/1:-394.177,0,-446.564:343:178:165:5715:6338 0/1:-750.094,0,-871.62:670:347:320:11069:12395 0/1:-435.172,0,-613.652:410:231:179:6447:8563 . 0/1:-534.617,0,-601.494:441:231:209:7706:8491 0/1:-547.242,0,-466.712:397:182:215:7726:6765 0/1:-534.601,0,-539.411:427:209:218:7703:7700 1/1:-830.864,-80.375,0:267:0:267:9590:0 1/1:-1654.66,-159.479,0:539:2:537:19190:30 +chr22 19907192 . A G 6781.51 . AB=0;ABP=0;AC=45;AF=1;AN=62;AO=340;CIGAR=1X;DP=10691;DPB=340;DPRA=0;EPP=3.24022;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7853;MQMR=0;NS=1;NUMALT=1;ODDS=475.945;PAIRED=0.985294;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=12389;QR=0;RO=0;RPL=295;RPP=402.178;RPPR=0;RPR=45;RUN=1;SAF=128;SAP=48.0747;SAR=212;SF=0,1,2,3,4,5,6,7,8,9,10,12,13,15,17,18,19,20,21,22,24,26,27,28,29,30,32,33,34,35,36;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-1075.41,-102.35,0:340:0:340:12389:0:0,340 1/1:-459.869,-43.0473,0:143:0:143:5298:0 0/1:-547.835,0,-527.034:431:210:221:7811:7615 1/1:-1120.62,-107.468,0:359:0:357:12957:0:0,357 1/1:-1470.14,-136.061,0:467:2:465:16997:48 0/1:-487.912,0,-616.524:429:229:199:7098:8633:229,199 1/1:-899.318,-87.2987,0:290:0:290:10417:0:0,290 0/1:-737.588,0,-687.18:559:268:290:10418:9922 0/1:-425.902,0,-337.704:297:133:163:5939:4926 0/1:-422.884,0,-538.242:372:201:171:6228:7516:201,171 0/1:-413.301,0,-547.817:368:203:165:6063:7616:203,165 . 0/1:-631.572,0,-627.091:488:242:245:8969:8939:242,245 0/1:-396.671,0,-494.782:353:189:164:5811:6957 . 1/1:-1110.27,-107.468,0:358:0:357:12935:0 . 1/1:-1447.5,-138.173,0:460:0:459:16720:0 0/1:-301.824,0,-240.088:212:95:117:4207:3528 1/1:-1303.37,-126.433,0:420:0:420:15206:0 1/1:-1535.13,-147.806,0:491:0:491:17836:0:0,491 0/1:-293.505,0,-95.9794:151:44:107:3890:1646:44,107 1/1:-388.417,-37.0267,0:123:0:123:4458:0 . 1/1:-621.753,-58.7009,0:195:0:195:7154:0:0,195 . 0/1:-433.915,0,-464.116:365:183:181:6326:6638 1/1:-1392.81,-135.765,0:451:0:451:16081:0:0,451 0/1:-340.991,0,-299.426:258:121:137:4899:4363 0/1:-605.343,0,-670.693:512:262:250:8796:9536 0/1:-337.929,0,-457.958:307:172:135:4955:6413 . 0/1:-350.552,0,-504.875:330:188:142:5173:6991 0/1:-472.789,0,-269.086:289:111:178:6503:4109 0/1:-385.578,0,-373.722:299:144:155:5548:5358 1/1:-621.378,-59.6039,0:198:0:198:7172:0 1/1:-1171.86,-113.187,0:376:0:376:13560:0 +chr3 8775589 . C T 10841.60 . AB=0.50059;ABP=3.01286;AC=2;AF=0.5;AN=4;AO=424;CIGAR=1X;DP=1585;DPB=847;DPRA=0;EPP=19.071;EPPR=9.32872;GTI=0;LEN=1;MEANALT=3;MQM=41.8915;MQMR=41.8575;NS=1;NUMALT=1;ODDS=2506.9;PAIRED=0.985849;PAIREDR=0.990499;PAO=0;PQA=0;PQR=0;PRO=0;QA=16148;QR=15692;RO=421;RPL=151;RPP=79.2372;RPPR=38.543;RPR=273;RUN=1;SAF=201;SAP=5.48906;SAR=223;SF=12,20;SRF=184;SRP=17.4988;SRR=237;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-1136.97,0,-1102.18:847:421:424:16148:15692:421,424 . . . . . . . 0/1:-1064.58,0,-846.605:738:334:400:15027:12355:334,400 . . . . . . . . . . . . . . . . +chr3 8775661 . C T 8201.27 . AB=0.492784;ABP=3.22969;AC=3;AF=0.5;AN=6;AO=239;CIGAR=1X;DP=2008;DPB=485;DPRA=0;EPP=3.23744;EPPR=4.28141;GTI=0;LEN=1;MEANALT=1;MQM=40.569;MQMR=40.9878;NS=1;NUMALT=1;ODDS=1355.68;PAIRED=0.949791;PAIREDR=0.963415;PAO=0;PQA=0;PQR=0;PRO=0;QA=8947;QR=9202;RO=246;RPL=165;RPP=78.2486;RPPR=109.818;RPR=74;RUN=1;SAF=100;SAP=16.8296;SAR=139;SF=3,12,25;SRF=101;SRP=20.0996;SRR=145;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-605.177,0,-638.936:485:246:239:8947:9202:246,239 . . . . . . . . 0/1:-904.663,0,-1025.49:743:392:350:13061:14651:392,350 . . . . . . . . . . . . 0/1:-1040.11,0,-956.19:780:374:406:14870:13828:374,406 . . . . . . . . . . . +chr3 8775702 . G A 2287.60 . AB=0.526104;ABP=4.48411;AC=4;AF=0.5;AN=8;AO=131;CIGAR=1X;DP=847;DPB=249;DPRA=0;EPP=3.15949;EPPR=6.14687;GTI=0;LEN=1;MEANALT=2;MQM=41.8321;MQMR=40.4957;NS=1;NUMALT=1;ODDS=587.449;PAIRED=1;PAIREDR=0.948718;PAO=0;PQA=0;PQR=0;PRO=0;QA=4654;QR=4150;RO=117;RPL=98;RPP=73.0444;RPPR=44.0084;RPR=33;RUN=1;SAF=38;SAP=53.1531;SAR=93;SF=6,9,21,24;SRF=21;SRP=107.408;SRR=96;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-330.694,0,-277.677:249:117:131:4654:4150:117,131 . . 0/1:-368.858,0,-245.333:248:105:143:5100:3722:105,143 . . . . . . . . . . . 0/1:-100.983,0,-304.449:167:117:50:1729:4084:117,50 . . 0/1:-188.123,0,-277.605:183:105:78:2825:3850:105,78 . . . . . . . . . . . . +chr3 8787220 . T C 1763.48 . AB=0.477778;ABP=3.78238;AC=5;AF=0.5;AN=10;AO=86;CIGAR=1X;DP=833;DPB=180;DPRA=0;EPP=35.7339;EPPR=65.4748;GTI=0;LEN=1;MEANALT=1;MQM=41.7558;MQMR=41.8085;NS=1;NUMALT=1;ODDS=479.504;PAIRED=1;PAIREDR=0.989362;PAO=0;PQA=0;PQR=0;PRO=0;QA=3187;QR=3552;RO=94;RPL=30;RPP=20.0791;RPPR=5.32038;RPR=56;RUN=1;SAF=55;SAP=17.5541;SAR=31;SF=3,5,9,20,24;SRF=63;SRP=26.6655;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-221.252,0,-251.625:180:94:86:3187:3552:94,86 . 0/1:-230.432,0,-213.109:167:81:86:3249:3051:81,86 . . . 0/1:-188.945,0,-270.588:174:98:74:2787:3738:98,74 . . . . . . . . . . 0/1:-242.127,0,-261.042:247:105:142:5341:3910:105,142 . . . 0/1:-65.1936,0,-101.42:65:38:27:974:1408:38,27 . . . . . . . . . . . . +chr3 8787330 . C T 5153.86 . AB=0.482679;ABP=4.13866;AC=1;AF=0.5;AN=2;AO=209;CIGAR=1X;DP=433;DPB=433;DPRA=0;EPP=4.76618;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.799;MQMR=41.5804;NS=1;NUMALT=1;ODDS=1186.72;PAIRED=0.990431;PAIREDR=0.995536;PAO=0;PQA=0;PQR=0;PRO=0;QA=7603;QR=8311;RO=224;RPL=77;RPP=34.4395;RPPR=88.6671;RPR=132;RUN=1;SAF=114;SAP=6.76103;SAR=95;SF=16;SRF=125;SRP=9.56349;SRR=99;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-526.404,0,-587.374:433:224:209:7603:8311:224,209 . . . . . . . . . . . . . . . . . . . . +chr3 14174146 . T C 2885.37 . AB=0.509615;ABP=3.17734;AC=9;AF=0.5;AN=16;AO=106;CIGAR=1X;DP=1653;DPB=208;DPRA=0;EPP=4.32138;EPPR=4.06379;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9604;NS=1;NUMALT=1;ODDS=569.385;PAIRED=1;PAIREDR=0.990099;PAO=0;PQA=0;PQR=0;PRO=0;QA=3873;QR=3726;RO=101;RPL=71;RPP=29.5596;RPPR=63.403;RPR=35;RUN=1;SAF=50;SAP=3.74778;SAR=56;SF=3,5,9,12,16,20,21,24;SRF=48;SRP=3.54779;SRR=53;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-273.749,0,-260.308:208:101:106:3873:3726:101,106 . 0/1:-432.658,0,-326.397:297:132:165:6020:4797:132,165 . . . 1/1:-676.873,-65.0225,0:217:0:216:7808:0:0,216 . . 0/1:-323.397,0,-366.517:271:141:129:4674:5203:141,129 . . . 0/1:-321.066,0,-283.429:234:111:123:4511:4083:111,123 . . . 0/1:-271.631,0,-340.856:240:129:111:3953:4765:129,111 0/1:-45.4681,0,-253.058:120:92:26:929:3323:92,26 . . 0/1:-76.2043,0,-95.5212:66:36:30:1101:1327:36,30 . . . . . . . . . . . . +chr3 14174427 . A T 3819.83 . AB=0.516026;ABP=3.70628;AC=6;AF=0.5;AN=12;AO=161;CIGAR=1X;DP=1901;DPB=312;DPRA=0;EPP=3.34749;EPPR=3.02468;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=854.803;PAIRED=1;PAIREDR=0.993377;PAO=0;PQA=0;PQR=0;PRO=0;QA=5986;QR=5515;RO=151;RPL=111;RPP=53.1969;RPPR=63.7684;RPR=50;RUN=1;SAF=73;SAP=6.04497;SAR=88;SF=3,5,9,16,20,24;SRF=76;SRP=3.02468;SRR=75;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-424.298,0,-384.453:312:151:161:5986:5515:151,161 . 0/1:-449.663,0,-580.143:399:220:179:6613:8078:220,179 . . . 0/1:-340.183,0,-389.676:288:151:135:4915:5482:151,135 . . . . . . 0/1:-428.259,0,-456.61:339:173:165:6125:6446:173,165 . . . 0/1:-504.348,0,-478.969:380:185:195:7143:6853:185,195 . . . 0/1:-238.309,0,-245.52:183:93:90:3395:3465:93,90 . . . . . . . . . . . . +chr3 14175262 . T C 1936.82 . AB=0.473373;ABP=4.05106;AC=6;AF=0.5;AN=12;AO=80;CIGAR=1X;DP=1002;DPB=169;DPRA=0;EPP=5.72464;EPPR=3.62026;GTI=0;LEN=1;MEANALT=1;MQM=41.425;MQMR=42;NS=1;NUMALT=1;ODDS=441.015;PAIRED=0.975;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2916;QR=3370;RO=89;RPL=26;RPP=24.2907;RPPR=15.9171;RPR=54;RUN=1;SAF=45;SAP=5.72464;SAR=35;SF=3,5,9,16,20,24;SRF=42;SRP=3.62026;SRR=47;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-200.683,0,-240.166:169:89:80:2916:3370:89,80 . 0/1:-257.614,0,-334.261:225:123:102:3764:4651:123,102 . . . 0/1:-227.669,0,-188.193:159:72:87:3175:2729:72,87 . . . . . . 0/1:-207.54,0,-242.196:171:92:79:2990:3395:92,79 . . . 0/1:-212.473,0,-280.005:188:104:84:3103:3891:104,84 . . . 0/1:-108.162,0,-133.327:90:49:41:1561:1853:49,41 . . . . . . . . . . . . +chr3 32181761 . C T 6505.16 . AB=0.497238;ABP=3.03429;AC=5;AF=0.5;AN=8;AO=180;CIGAR=1X;DP=1430;DPB=362;DPRA=0;EPP=5.37479;EPPR=5.34881;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1079.09;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6797;QR=6819;RO=182;RPL=72;RPP=18.6449;RPPR=43.1467;RPR=108;RUN=1;SAF=89;SAP=3.05855;SAR=91;SF=0,9,12,20;SRF=90;SRP=3.05802;SRR=92;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-478.06,0,-480.006:362:182:180:6797:6819:182,180 . . . . . . . . 0/1:-363.896,0,-309.288:257:119:138:5103:4473:119,138 . . 1/1:-1350.12,-126.734,0:422:0:421:15647:0:0,421 . . . . . . . 0/1:-456.001,0,-558.34:389:208:181:6642:7838:208,181 . . . . . . . . . . . . . . . . +chr3 32188248 . GAG GG 218.55 . AB=0.253012;ABP=46.9892;AC=1;AF=0.5;AN=2;AO=21;CIGAR=1M1D1M;DP=83;DPB=76;DPRA=0;EPP=3.94093;EPPR=3.57068;GTI=0;LEN=1;MEANALT=1;MQM=41.9048;MQMR=42;NS=1;NUMALT=1;ODDS=50.3233;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=677;QR=2224;RO=62;RPL=18;RPP=26.2761;RPPR=23.184;RPR=3;RUN=1;SAF=8;SAP=5.59539;SAR=13;SF=21;SRF=20;SRP=19.9618;SRR=42;TYPE=del;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\x3dOREG1243677|N/A|SMARCA4|PAZAR,OREG1862151|N/A|SPI1|PAZAR,OREG1769698|N/A|MITF|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.139296;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-34.515,0,-169.064:83:62:21:677:2224:62,21 . . . . . . . . . . . . . . . +chr3 38592406 . A G 8153.74 . AB=0.447412;ABP=17.3986;AC=12;AF=0.5;AN=22;AO=268;CIGAR=1X;DP=6748;DPB=599;DPRA=0;EPP=3.30199;EPPR=3.0169;GTI=0;LEN=1;MEANALT=3;MQM=41.7463;MQMR=41.9362;NS=1;NUMALT=1;ODDS=1457.94;PAIRED=1;PAIREDR=0.99696;PAO=0;PQA=0;PQR=0;PRO=0;QA=9575;QR=11993;RO=329;RPL=90;RPP=65.7561;RPPR=65.1118;RPR=178;RUN=1;SAF=161;SAP=26.6372;SAR=107;SF=0,3,6,9,10,12,16,20,21,25,27;SRF=201;SRP=38.1829;SRR=128;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-650.721,0,-862.432:599:329:268:9575:11993:329,268 . . 0/1:-630.942,0,-733.42:547:288:259:9132:10351:288,259 . . 0/1:-549.305,0,-816.804:535:312:223:8166:11241:312,223 . . 0/1:-585.575,0,-687.682:503:267:235:8476:9642:267,235 0/1:-525.468,0,-783.469:521:297:219:7818:10799:297,219 . 0/1:-875.157,0,-1067.1:771:414:354:12751:14953:414,354 . . . 0/1:-786.514,0,-705.094:593:284:308:11123:10198:284,308 . . . 0/1:-794.074,0,-1011.96:713:390:322:11589:14099:390,322 0/1:-162.848,0,-661.58:342:253:89:3043:8821:253,89 . . . 1/1:-2847.19,-278.071,0:939:2:936:32797:48:2,936 . 0/1:-758.625,0,-937.858:685:366:316:11091:13140:366,316 . . . . . . . . . +chr3 38597180 . G A 1030.12 . AB=0.472222;ABP=3.73412;AC=1;AF=0.5;AN=2;AO=51;CIGAR=1X;DP=108;DPB=108;DPRA=0;EPP=6.45911;EPPR=3.9627;GTI=0;LEN=1;MEANALT=1;MQM=37.2941;MQMR=40.5614;NS=1;NUMALT=1;ODDS=237.195;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1822;QR=2074;RO=57;RPL=17;RPP=15.3153;RPPR=23.1631;RPR=34;RUN=1;SAF=31;SAP=8.16222;SAR=20;SF=3;SRF=29;SRP=3.0484;SRR=28;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-111.14,0,-143.389:108:57:51:1822:2074:57,51 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 38601665 . C T 6077.92 . AB=0.435714;ABP=23.1119;AC=2;AF=0.5;AN=4;AO=244;CIGAR=1X;DP=1109;DPB=560;DPRA=0;EPP=68.8308;EPPR=66.7437;GTI=0;LEN=1;MEANALT=2;MQM=41.9836;MQMR=41.5987;NS=1;NUMALT=1;ODDS=1270.23;PAIRED=1;PAIREDR=0.996815;PAO=0;PQA=0;PQR=0;PRO=0;QA=8526;QR=11050;RO=314;RPL=102;RPP=17.2495;RPPR=49.5102;RPR=142;RUN=1;SAF=159;SAP=51.7438;SAR=85;SF=25,27;SRF=205;SRP=66.7437;SRR=109;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-573.964,0,-791.891:560:314:244:8526:11050:314,244 . 0/1:-688.553,0,-645.953:549:266:282:9805:9306:266,282 . . . . . . . . . +chr3 38622465 . TCT TCC 250.56 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=9;CIGAR=2M1X;DP=9;DPB=9;DPRA=0;EPP=5.18177;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=17.0818;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=335;QR=0;RO=0;RPL=6;RPP=5.18177;RPPR=0;RPR=3;RUN=1;SAF=9;SAP=22.5536;SAR=0;SF=21;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SCN5A:NM_000335:exon17:c.3183delA:p.E1061fs,SCN5A:NM_001099404:exon17:c.3183delA:p.E1061fs,SCN5A:NM_001099405:exon17:c.3183delA:p.E1061fs,SCN5A:NM_001160160:exon17:c.3183delA:p.E1061fs,SCN5A:NM_001160161:exon17:c.3183delA:p.E1061fs,SCN5A:NM_198056:exon17:c.3183delA:p.E1061fs;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\x3d99.925456;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 1/1:-29.3352,-2.70927,0:9:0:9:335:0:0,9 . . . . . . . . . . . . . . . +chr3 38622467 . T C 298.92 . AB=0.777778;ABP=15.074;AC=21;AF=0.5;AN=24;AO=14;CIGAR=1X;DP=148;DPB=18;DPRA=0;EPP=3.63072;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.5;NS=1;NUMALT=1;ODDS=4.99983;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=526;QR=148;RO=4;RPL=10;RPP=8.59409;RPPR=5.18177;RPR=4;RUN=1;SAF=10;SAP=8.59409;SAR=4;SF=0,3,5,6,9,10,12,16,20,24,25,27;SRF=3;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-40.3534,0,-7.7343:18:4:14:526:148:4,14 . . 1/1:-43.6789,-3.91339,0:13:0:13:503:0:0,13 . 1/1:-23.6371,-2.10721,0:7:0:7:270:0:0,7 1/1:-16.4285,-1.50515,0:5:0:5:185:0:0,5 . . 0/1:-12.5705,0,-6.12786:8:3:5:169:95:3,5 0/1:-6.51264,0,-26.6352:13:10:3:117:365:10,3 . 1/1:-40.0721,-3.61236,0:12:0:12:460:0:0,12 . . . 1/1:-30.4704,-2.70927,0:9:0:9:350:0:0,9 . . . 1/1:-60.1506,-6.0206,0:20:0:20:687:0:0,20 . . . 1/1:-16.9378,-1.50515,0:5:0:5:192:0:0,5 1/1:-63.0403,-6.32163,0:21:0:21:725:0:0,21 . 1/1:-50.8926,-5.11751,0:17:0:17:590:0:0,17 . . . . . . . . . +chr3 38622868 . G A 4407.17 . AB=0.471125;ABP=5.39298;AC=3;AF=0.5;AN=6;AO=155;CIGAR=1X;DP=1038;DPB=329;DPRA=0;EPP=4.70545;EPPR=3.809;GTI=0;LEN=1;MEANALT=1;MQM=41.9871;MQMR=41.8908;NS=1;NUMALT=1;ODDS=926.823;PAIRED=0.993548;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5920;QR=6466;RO=174;RPL=95;RPP=20.1719;RPPR=99.6533;RPR=60;RUN=1;SAF=81;SAP=3.69677;SAR=74;SF=0,9,10;SRF=86;SRP=3.06022;SRR=88;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-411.647,0,-461.049:329:174:155:5920:6466:174,155 . . . . . . . . 0/1:-448.496,0,-412.323:334:161:172:6379:5993:161,172 0/1:-492.553,0,-491.352:375:189:185:7019:6987:189,185 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 38640484 . C T 55.99 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=74;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=16;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN5A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN5A:NM_000335:exon13:c.G1948A:p.V650I,SCN5A:NM_001099404:exon13:c.G1948A:p.V650I,SCN5A:NM_001099405:exon13:c.G1948A:p.V650I,SCN5A:NM_001160160:exon13:c.G1948A:p.V650I,SCN5A:NM_001160161:exon13:c.G1948A:p.V650I,SCN5A:NM_198056:exon13:c.G1948A:p.V650I;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.189;SIFT_converted_rankscore=0.255;SIFT_pred=T;Polyphen2_HDIV_score=0.0;Polyphen2_HDIV_rankscore=0.182;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.001;Polyphen2_HVAR_rankscore=0.210;Polyphen2_HVAR_pred=B;LRT_score=0.109;LRT_converted_rankscore=0.026;LRT_pred=N;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=-2.84;FATHMM_converted_rankscore=0.913;FATHMM_pred=D;PROVEAN_score=-0.24;PROVEAN_converted_rankscore=0.127;PROVEAN_pred=N;VEST3_score=0.065;VEST3_rankscore=0.439;MetaSVM_score=-0.452;MetaSVM_rankscore=0.704;MetaSVM_pred=T;MetaLR_score=0.561;MetaLR_rankscore=0.840;MetaLR_pred=D;M-CAP_score=0.507;M-CAP_rankscore=0.953;M-CAP_pred=D;REVEL_score=0.322;REVEL_rankscore=0.648;MutPred_score=0.191;MutPred_rankscore=0.102;CADD_raw=-0.893;CADD_raw_rankscore=0.036;CADD_phred=0.027;DANN_score=0.839;DANN_rankscore=0.145;fathmm-MKL_coding_score=0.040;fathmm-MKL_coding_rankscore=0.094;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.582;Eigen-PC-raw=-1.627;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.103;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=-1.71;GERP++_RS_rankscore=0.077;phyloP100way_vertebrate=-0.350;phyloP100way_vertebrate_rankscore=0.077;phyloP20way_mammalian=-0.426;phyloP20way_mammalian_rankscore=0.059;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.028;phastCons20way_mammalian_rankscore=0.145;SiPhy_29way_logOdds=9.305;SiPhy_29way_logOdds_rankscore=0.368;Interpro_domain=Voltage-gated_Na+_ion_channel,_cytoplasmic_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.852287;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 1/1:-6.80331,-0.60206,0:2:0:2:74:0:0,2 . . . . . . . . . . . . . . . . . . . . +chr3 38645420 . T C 8981.13 . AB=0;ABP=0;AC=7;AF=1;AN=12;AO=540;CIGAR=1X;DP=3456;DPB=541;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.8833;MQMR=24;NS=1;NUMALT=1;ODDS=744.899;PAIRED=0.987037;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=19520;QR=37;RO=1;RPL=254;RPP=7.12806;RPPR=5.18177;RPR=286;RUN=1;SAF=284;SAP=6.16296;SAR=256;SF=0,3,5,9,10,16;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1690.66,-160.478,0:541:1:540:19520:37:1,540 . . 0/1:-770.29,0,-648.171:567:260:307:10899:9463:260,307 . 0/1:-913.332,0,-799.107:674:318:355:12866:11564:318,355 . . . 0/1:-611.992,0,-669.967:508:265:243:8805:9519:265,243 0/1:-689.985,0,-788.119:584:308:275:10009:11134:308,275 . . . . . 0/1:-767.153,0,-712.904:582:281:299:10903:10242:281,299 . . . . . . . . . . . . . . . . . . . . +chr3 38647642 . G T 6489.11 . AB=0.504348;ABP=3.08583;AC=3;AF=0.5;AN=6;AO=232;CIGAR=1X;DP=1518;DPB=460;DPRA=0;EPP=3.94628;EPPR=23.1631;GTI=0;LEN=1;MEANALT=1;MQM=41.8276;MQMR=41.9825;NS=1;NUMALT=1;ODDS=1312.98;PAIRED=1;PAIREDR=0.995614;PAO=0;PQA=0;PQR=0;PRO=0;QA=8755;QR=8324;RO=228;RPL=137;RPP=19.521;RPPR=14.02;RPR=95;RUN=1;SAF=70;SAP=82.2316;SAR=162;SF=3,5,16;SRF=86;SRP=32.8776;SRR=142;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-615.908,0,-583.616:460:228:232:8755:8324:228,232 . 0/1:-741.56,0,-745.819:570:286:283:10610:10582:286,283 . . . . . . . . . . 0/1:-641.412,0,-628.569:488:244:244:9179:8955:244,244 . . . . . . . . . . . . . . . . . . . . +chr3 38674712 . T C 4667.22 . AB=0;ABP=0;AC=16;AF=1;AN=24;AO=203;CIGAR=1X;DP=3132;DPB=203;DPRA=0;EPP=7.72764;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9704;MQMR=0;NS=1;NUMALT=1;ODDS=286.023;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7566;QR=0;RO=0;RPL=82;RPP=19.2803;RPPR=0;RPR=121;RUN=1;SAF=103;SAP=3.10657;SAR=100;SF=0,3,5,6,9,10,12,16,20,21,24,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-655.555,-61.1091,0:203:0:203:7566:0:0,203 . . 0/1:-303.488,0,-354.666:255:136:119:4397:5027:136,119 . 0/1:-419.23,0,-381.218:308:147:161:5916:5482:147,161 0/1:-220.363,0,-314.405:202:114:88:3239:4340:114,88 . . 0/1:-285.412,0,-258.601:208:100:108:4014:3714:100,108 1/1:-816.391,-76.1606,0:254:0:253:9421:0:0,253 . 0/1:-527.129,0,-648.858:452:242:210:7643:9084:242,210 . . . 1/1:-850.947,-77.119,0:270:2:268:9883:44:2,268 . . . 0/1:-461.068,0,-380.317:329:150:179:6486:5573:150,179 0/1:-340.254,0,-66.1275:159:35:123:4478:1310:35,123 . . 1/1:-372.467,-34.6185,0:115:0:115:4294:0:0,115 . . 0/1:-457.469,0,-508.996:377:196:181:6585:7215:196,181 . . . . . . . . . +chr3 38739574 . T C 13239.36 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=653;CIGAR=1X;DP=7890;DPB=653;DPRA=0;EPP=11.6596;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=25.5498;MQMR=0;NS=1;NUMALT=1;ODDS=909.855;PAIRED=0.995406;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=24549;QR=0;RO=0;RPL=210;RPP=183.542;RPPR=0;RPR=443;RUN=1;SAF=337;SAP=4.47679;SAR=316;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1433.27,-196.573,0:653:0:653:24549:0:0,653 . . 1/1:-1242.23,-171.888,0:571:0:571:21441:0:0,571 . 1/1:-1550.25,-213.239,0:715:1:714:26999:20:1,714 1/1:-1206.41,-156.225,0:541:2:538:20184:76:2,538 . . 1/1:-1178.91,-162.255,0:539:0:539:20307:0:0,539 1/1:-1319.49,-176.404,0:586:0:586:22241:0:0,586 . 1/1:-1793.58,-247.748,0:826:0:823:30775:0:0,823 . . . 1/1:-1333.87,-180.618,0:601:0:600:22726:0:0,600 . . . 1/1:-1693.04,-230.589,0:767:0:766:28819:0:0,766 1/1:-314.744,-45.4555,0:151:0:151:5519:0:0,151 . . 1/1:-741.885,-97.5337,0:324:0:324:12289:0:0,324 1/1:-2028.94,-275.743,0:916:0:916:34140:0:0,916 . 1/1:-1558.27,-210.42,0:700:0:699:25889:0:0,699 . . . . . . . . . +chr3 38739727 . C T 3533.37 . AB=0.519608;ABP=4.71342;AC=1;AF=0.5;AN=2;AO=265;CIGAR=1X;DP=510;DPB=510;DPRA=0;EPP=5.96842;EPPR=4.7546;GTI=0;LEN=1;MEANALT=2;MQM=23.0981;MQMR=27.4262;NS=1;NUMALT=1;ODDS=813.589;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=9793;QR=8918;RO=244;RPL=72;RPP=122.982;RPPR=114.645;RPR=193;RUN=1;SAF=162;SAP=31.5344;SAR=103;SF=0;SRF=145;SRP=21.8416;SRR=99;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4690A:p.G1564S,SCN10A:NM_001293306:exon27:c.G4981A:p.G1661S,SCN10A:NM_006514:exon27:c.G4984A:p.G1662S;1000g2015aug_all=0.000998403;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs151090729;CLNALLELEID=393998;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=0.0;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=2.55;MutationAssessor_score_rankscore=0.747;MutationAssessor_pred=M;FATHMM_score=-7.52;FATHMM_converted_rankscore=0.999;FATHMM_pred=D;PROVEAN_score=-5.67;PROVEAN_converted_rankscore=0.871;PROVEAN_pred=D;VEST3_score=0.919;VEST3_rankscore=0.910;MetaSVM_score=0.938;MetaSVM_rankscore=0.962;MetaSVM_pred=D;MetaLR_score=0.995;MetaLR_rankscore=0.999;MetaLR_pred=D;M-CAP_score=0.629;M-CAP_rankscore=0.968;M-CAP_pred=D;REVEL_score=0.909;REVEL_rankscore=0.976;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.647;CADD_raw_rankscore=0.912;CADD_phred=32;DANN_score=0.999;DANN_rankscore=0.930;fathmm-MKL_coding_score=0.989;fathmm-MKL_coding_rankscore=0.889;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.839;Eigen-PC-raw=0.786;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=5.38;GERP++_RS_rankscore=0.772;phyloP100way_vertebrate=7.899;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=0.972;phastCons20way_mammalian_rankscore=0.466;SiPhy_29way_logOdds=19.321;SiPhy_29way_logOdds_rankscore=0.942;Interpro_domain=Ion_transport_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=0.0003;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0002;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=0.0077;AF=0.0005;AF_popmax=0.0012;AF_male=0.0007;AF_female=0.0001;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=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;Kaviar_AF=0.0013648;Kaviar_AC=211;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.861463;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-376.47,0,-417.974:510:244:265:9793:8918:244,265 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 38739845 . A G 8942.24 . AB=0;ABP=0;AC=24;AF=1;AN=26;AO=484;CIGAR=1X;DP=6193;DPB=484;DPRA=0;EPP=42.6531;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=24.3079;MQMR=0;NS=1;NUMALT=1;ODDS=675.572;PAIRED=0.997934;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=18256;QR=0;RO=0;RPL=288;RPP=40.9841;RPPR=0;RPR=196;RUN=1;SAF=165;SAP=109.412;SAR=319;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1026.85,-145.699,0:484:0:484:18256:0:0,484 . . 1/1:-1040.39,-144.795,0:481:0:481:18216:0:0,481 . 1/1:-1254.16,-173.995,0:578:0:578:21789:0:0,578 0/1:-344.279,0,-418.557:403:188:215:8032:7065:188,215 . . 1/1:-999.073,-140.28,0:467:0:466:17517:0:0,466 1/1:-976.546,-136.367,0:453:0:453:17045:0:0,453 . 1/1:-1267.24,-178.511,0:593:0:593:22443:0:0,593 . . . 1/1:-1002.15,-136.668,0:454:0:454:17148:0:0,454 . . . 0/1:-472.799,0,-731.55:632:325:306:11500:12062:325,306 1/1:-279.36,-39.1339,0:130:0:130:4874:0:0,130 . . 1/1:-572.644,-79.1709,0:263:0:263:10005:0:0,263 1/1:-1434.45,-204.42,0:685:1:683:25219:17:1,683 . 1/1:-1216.73,-167.8,0:570:2:568:21151:40:2,568 . . . . . . . . . +chr3 38739857 . C T 906.83 . AB=0.560345;ABP=6.67934;AC=1;AF=0.5;AN=2;AO=65;CIGAR=1X;DP=116;DPB=116;DPRA=0;EPP=15.0703;EPPR=3.3935;GTI=0;LEN=1;MEANALT=1;MQM=23.8615;MQMR=24.451;NS=1;NUMALT=1;ODDS=155.991;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2363;QR=1904;RO=51;RPL=41;RPP=12.665;RPPR=12.5903;RPR=24;RUN=1;SAF=24;SAP=12.665;SAR=41;SF=21;SRF=19;SRP=10.206;SRR=32;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon26:c.G4560A:p.M1520I,SCN10A:NM_001293306:exon27:c.G4851A:p.M1617I,SCN10A:NM_006514:exon27:c.G4854A:p.M1618I;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.027;SIFT_converted_rankscore=0.465;SIFT_pred=D;Polyphen2_HDIV_score=0.995;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.824;Polyphen2_HVAR_rankscore=0.575;Polyphen2_HVAR_pred=P;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=1.69;MutationAssessor_score_rankscore=0.435;MutationAssessor_pred=L;FATHMM_score=-4.85;FATHMM_converted_rankscore=0.982;FATHMM_pred=D;PROVEAN_score=-3.66;PROVEAN_converted_rankscore=0.700;PROVEAN_pred=D;VEST3_score=0.868;VEST3_rankscore=0.855;MetaSVM_score=1.082;MetaSVM_rankscore=0.989;MetaSVM_pred=D;MetaLR_score=0.937;MetaLR_rankscore=0.979;MetaLR_pred=D;M-CAP_score=0.189;M-CAP_rankscore=0.861;M-CAP_pred=D;REVEL_score=0.903;REVEL_rankscore=0.974;MutPred_score=0.702;MutPred_rankscore=0.839;CADD_raw=6.248;CADD_raw_rankscore=0.863;CADD_phred=28.9;DANN_score=0.998;DANN_rankscore=0.851;fathmm-MKL_coding_score=0.977;fathmm-MKL_coding_rankscore=0.763;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.741;Eigen-PC-raw=0.764;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=5.42;GERP++_RS_rankscore=0.786;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=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=19.406;SiPhy_29way_logOdds_rankscore=0.946;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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.919564;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-100.325,0,-75.8076:116:51:65:2363:1904:51,65 . . . . . . . . . . . . . . . +chr3 38748833 . T C 4077.58 . AB=0;ABP=0;AC=4;AF=1;AN=6;AO=211;CIGAR=1X;DP=696;DPB=211;DPRA=0;EPP=12.9003;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=37.7536;MQMR=0;NS=1;NUMALT=1;ODDS=297.113;PAIRED=0.995261;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7852;QR=0;RO=0;RPL=129;RPP=25.7439;RPPR=0;RPR=82;RUN=1;SAF=115;SAP=6.72547;SAR=96;SF=9,10,16;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 1/1:-620.687,-63.5173,0:211:0:211:7852:0:0,211 0/1:-348.933,0,-179.954:222:78:144:5426:2922:78,144 . . . . . 0/1:-282.792,0,-351.336:263:139:124:4669:5218:139,124 . . . . . . . . . . . . . . . . . . . . +chr3 38753732 . A T 1356.34 . AB=0.5625;ABP=6.26751;AC=1;AF=0.5;AN=2;AO=54;CIGAR=1X;DP=96;DPB=96;DPRA=0;EPP=8.80089;EPPR=3.06326;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=215.876;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2018;QR=1542;RO=41;RPL=18;RPP=16.0391;RPPR=31.0276;RPR=36;RUN=1;SAF=39;SAP=26.1727;SAR=15;SF=16;SRF=30;SRP=22.1298;SRR=11;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SCN10A;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SCN10A:NM_001293307:exon21:c.T3715A:p.S1239T,SCN10A:NM_001293306:exon22:c.T4006A:p.S1336T,SCN10A:NM_006514:exon22:c.T4009A:p.S1337T;1000g2015aug_all=0.00119808;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs11711062;CLNALLELEID=236912;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=Benign;SIFT_score=0.574;SIFT_converted_rankscore=0.061;SIFT_pred=T;Polyphen2_HDIV_score=0.059;Polyphen2_HDIV_rankscore=0.216;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.05;Polyphen2_HVAR_rankscore=0.239;Polyphen2_HVAR_pred=B;LRT_score=0.937;LRT_converted_rankscore=0.076;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=-3.75;FATHMM_converted_rankscore=0.955;FATHMM_pred=D;PROVEAN_score=-0.62;PROVEAN_converted_rankscore=0.183;PROVEAN_pred=N;VEST3_score=0.123;VEST3_rankscore=0.138;MetaSVM_score=-0.323;MetaSVM_rankscore=0.743;MetaSVM_pred=T;MetaLR_score=0.452;MetaLR_rankscore=0.786;MetaLR_pred=T;M-CAP_score=0.078;M-CAP_rankscore=0.729;M-CAP_pred=D;REVEL_score=0.185;REVEL_rankscore=0.464;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-1.271;CADD_raw_rankscore=0.023;CADD_phred=0.005;DANN_score=0.261;DANN_rankscore=0.012;fathmm-MKL_coding_score=0.010;fathmm-MKL_coding_rankscore=0.038;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=-1.568;Eigen-PC-raw=-1.691;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=-9.34;GERP++_RS_rankscore=0.005;phyloP100way_vertebrate=-3.700;phyloP100way_vertebrate_rankscore=0.004;phyloP20way_mammalian=-0.201;phyloP20way_mammalian_rankscore=0.102;phastCons100way_vertebrate=0.000;phastCons100way_vertebrate_rankscore=0.063;phastCons20way_mammalian=0.081;phastCons20way_mammalian_rankscore=0.181;SiPhy_29way_logOdds=1.160;SiPhy_29way_logOdds_rankscore=0.017;Interpro_domain=Ion_transport_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0065;ExAC_nontcga_ALL=0.0043;ExAC_nontcga_AFR=0.0007;ExAC_nontcga_AMR=0.0045;ExAC_nontcga_EAS=0.0001;ExAC_nontcga_FIN=0.0008;ExAC_nontcga_NFE=0.0066;ExAC_nontcga_OTH=0.0043;ExAC_nontcga_SAS=0.0021;AF=0.0034;AF_popmax=0.0054;AF_male=0.0031;AF_female=0.0039;AF_raw=0.0034;AF_afr=0.0007;AF_sas=.;AF_amr=0.0047;AF_eas=0;AF_nfe=0.0054;AF_fin=0.0020;AF_asj=0;AF_oth=0.0064;non_topmed_AF_popmax=0.0048;non_neuro_AF_popmax=0.0054;non_cancer_AF_popmax=.;controls_AF_popmax=0.0081;Kaviar_AF=0.0044307;Kaviar_AC=685;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.877132;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-146.233,0,-104.778:96:41:54:2018:1542:41,54 . . . . . . . . . . . . . . . . . . . . +chr3 38763863 . G C 2847.51 . AB=0.542208;ABP=7.77626;AC=6;AF=0.5;AN=12;AO=167;CIGAR=1X;DP=1415;DPB=308;DPRA=0;EPP=6.76812;EPPR=3.1489;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=787.294;PAIRED=1;PAIREDR=0.985816;PAO=0;PQA=0;PQR=0;PRO=0;QA=6222;QR=5280;RO=141;RPL=124;RPP=88.3219;RPPR=142;RPR=43;RUN=1;SAF=75;SAP=6.76812;SAR=92;SF=5,12,16,21,24,25;SRF=62;SRP=7.46105;SRR=79;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-446.908,0,-364.789:308:141:167:6222:5280:141,167 . . . . . . 0/1:-401.052,0,-405.924:316:159:156:5722:5843:159,156 . . . 0/1:-178.73,0,-349.96:203:128:75:2766:4741:128,75 . . . . 0/1:-238.646,0,-81.0517:124:37:87:3180:1365:37,87 . . 0/1:-94.7518,0,-184.176:105:66:39:1452:2488:66,39 0/1:-441.932,0,-474.163:359:186:172:6342:6706:186,172 . . . . . . . . . . . +chr3 38768247 . G A 183.72 . AB=0.357143;ABP=5.49198;AC=5;AF=0.5;AN=10;AO=5;CIGAR=1X;DP=101;DPB=14;DPRA=0;EPP=6.91895;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=15.2447;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=191;QR=302;RO=9;RPL=1;RPP=6.91895;RPPR=5.18177;RPR=4;RUN=1;SAF=5;SAP=13.8677;SAR=0;SF=5,16,21,24,25;SRF=9;SRP=22.5536;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-12.6511,0,-22.5453:14:9:5:191:302:9,5 . . . . . . . . . . 0/1:-16.9829,0,-36.6273:21:14:7:265:488:14,7 . . . . 0/1:-42.2775,0,-3.49846:19:3:16:546:101:3,16 . . 0/1:-7.01242,0,-2.45036:4:1:3:91:38:1,3 0/1:-56.7304,0,-47.163:43:21:22:799:691:21,22 . . . . . . . . . . . +chr3 38768300 . T C 455.96 . AB=0.4;ABP=5.61607;AC=5;AF=0.5;AN=10;AO=12;CIGAR=1X;DP=208;DPB=30;DPRA=0;EPP=9.52472;EPPR=15.074;GTI=0;LEN=1;MEANALT=1;MQM=40.5;MQMR=41.8889;NS=1;NUMALT=1;ODDS=48.0826;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=460;QR=682;RO=18;RPL=3;RPP=9.52472;RPPR=15.074;RPR=9;RUN=1;SAF=12;SAP=29.068;SAR=0;SF=5,16,21,24,25;SRF=18;SRP=42.0968;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-30.1281,0,-50.2611:30:18:12:460:682:18,12 . . . . . . . . . . 0/1:-43.3695,0,-65.1829:42:24:18:651:897:24,18 . . . . 0/1:-72.9573,0,-8.03401:30:5:25:943:194:5,25 . . 0/1:-30.1841,0,-14.8905:17:6:11:403:227:6,11 0/1:-133.956,0,-87.7686:89:36:53:1865:1321:36,53 . . . . . . . . . . . +chr3 38768334 . T C 550.98 . AB=0.586957;ABP=6.03148;AC=1;AF=0.5;AN=2;AO=27;CIGAR=1X;DP=46;DPB=46;DPRA=0;EPP=6.95112;EPPR=5.8675;GTI=0;LEN=1;MEANALT=1;MQM=40.5926;MQMR=42;NS=1;NUMALT=1;ODDS=84.6861;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=953;QR=705;RO=19;RPL=10;RPP=6.95112;RPPR=5.8675;RPR=17;RUN=1;SAF=27;SAP=61.6401;SAR=0;SF=9;SRF=19;SRP=44.2683;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-68.8575,0,-47.7617:46:19:27:953:705:19,27 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 38798171 . C T 42.33 . AB=0.666667;ABP=3.73412;AC=4;AF=0.5;AN=8;AO=2;CIGAR=1X;DP=25;DPB=3;DPRA=0;EPP=3.0103;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1.17101;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=69;QR=39;RO=1;RPL=1;RPP=3.0103;RPPR=5.18177;RPR=1;RUN=1;SAF=2;SAP=7.35324;SAR=0;SF=5,16,21,25;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-5.45909,0,-2.82049:3:1:2:69:39:1,2 . . . . . . . . . . 0/1:-5.50401,0,-8.78752:5:3:2:77:115:3,2 . . . . 0/1:-12.1399,0,-2.21843:5:1:4:154:39:1,4 . . . 0/1:-13.2575,0,-19.4686:12:7:5:191:262:7,5 . . . . . . . . . . . +chr3 52485839 . T A 6625.38 . AB=0.532632;ABP=7.40353;AC=1;AF=0.5;AN=2;AO=253;CIGAR=1X;DP=475;DPB=475;DPRA=0;EPP=20.3907;EPPR=6.92286;GTI=0;LEN=1;MEANALT=1;MQM=41.7075;MQMR=41.7568;NS=1;NUMALT=1;ODDS=1283.02;PAIRED=1;PAIREDR=0.986486;PAO=0;PQA=0;PQR=0;PRO=0;QA=9481;QR=8287;RO=222;RPL=145;RPP=14.7603;RPPR=56.5733;RPR=108;RUN=1;SAF=123;SAP=3.43086;SAR=130;SF=0;SRF=105;SRP=4.41882;SRR=117;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TNNC1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=TNNC1:NM_003280:exon4:c.A238T:p.M80L;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.179;SIFT_converted_rankscore=0.273;SIFT_pred=T;Polyphen2_HDIV_score=0.002;Polyphen2_HDIV_rankscore=0.090;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.013;Polyphen2_HVAR_rankscore=0.154;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=-0.02;MutationAssessor_score_rankscore=0.051;MutationAssessor_pred=N;FATHMM_score=-0.92;FATHMM_converted_rankscore=0.751;FATHMM_pred=T;PROVEAN_score=-2.28;PROVEAN_converted_rankscore=0.508;PROVEAN_pred=N;VEST3_score=0.889;VEST3_rankscore=0.877;MetaSVM_score=-0.858;MetaSVM_rankscore=0.515;MetaSVM_pred=T;MetaLR_score=0.149;MetaLR_rankscore=0.475;MetaLR_pred=T;M-CAP_score=0.034;M-CAP_rankscore=0.554;M-CAP_pred=D;REVEL_score=0.470;REVEL_rankscore=0.767;MutPred_score=0.567;MutPred_rankscore=0.689;CADD_raw=2.734;CADD_raw_rankscore=0.390;CADD_phred=21.0;DANN_score=0.968;DANN_rankscore=0.306;fathmm-MKL_coding_score=0.959;fathmm-MKL_coding_rankscore=0.664;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.288;Eigen-PC-raw=0.004;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.758;integrated_fitCons_score_rankscore=0.990;integrated_confidence_value=0;GERP++_RS=5.58;GERP++_RS_rankscore=0.843;phyloP100way_vertebrate=8.017;phyloP100way_vertebrate_rankscore=0.886;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=15.743;SiPhy_29way_logOdds_rankscore=0.776;Interpro_domain=EF-hand_domain|EF-hand_domain_pair;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=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\x3d99.867794;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-673.27,0,-570.864:475:222:253:9481:8287:222,253 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 57835519 . A G 993.31 . AB=0.588235;ABP=7.60871;AC=1;AF=0.5;AN=2;AO=40;CIGAR=1X;DP=68;DPB=68;DPRA=0;EPP=20.5992;EPPR=5.80219;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=147.614;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1501;QR=1064;RO=28;RPL=12;RPP=16.9077;RPPR=18.2106;RPR=28;RUN=1;SAF=27;SAP=13.6505;SAR=13;SF=3;SRF=14;SRP=3.0103;SRR=14;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SLMAP:NM_001304420:exon5:c.A495G:p.L165L,SLMAP:NM_001304421:exon5:c.A495G:p.L165L,SLMAP:NM_007159:exon5:c.A495G:p.L165L;1000g2015aug_all=0.000798722;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149758819;CLNALLELEID=239290;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=0.0036;ExAC_nontcga_ALL=0.0029;ExAC_nontcga_AFR=0.0012;ExAC_nontcga_AMR=0.0021;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0092;ExAC_nontcga_NFE=0.0037;ExAC_nontcga_OTH=0.0058;ExAC_nontcga_SAS=0.0002;AF=0.0027;AF_popmax=0.0026;AF_male=0.0020;AF_female=0.0036;AF_raw=0.0027;AF_afr=0.0005;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0026;AF_fin=0.0095;AF_asj=0.0069;AF_oth=0.0055;non_topmed_AF_popmax=0.0023;non_neuro_AF_popmax=0.0029;non_cancer_AF_popmax=.;controls_AF_popmax=0.0029;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\x3d96.187942;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-109.734,0,-71.8572:68:28:40:1501:1064:28,40 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 57846576 . TCA TAA 1182.58 . AB=0;ABP=0;AC=4;AF=1;AN=4;AO=49;CIGAR=1M1X1M;DP=103;DPB=60.3333;DPRA=0;EPP=6.59988;EPPR=0;GTI=0;LEN=1;MEANALT=4;MQM=41.5714;MQMR=0;NS=1;NUMALT=1;ODDS=33.8078;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1641;QR=0;RO=0;RPL=37;RPP=30.7077;RPPR=0;RPR=12;RUN=1;SAF=19;SAP=8.37251;SAR=30;SF=0,16;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-142.645,-14.7505,0:61:0:49:1641:0:0,49 . . . . . . . . . . . . . . . 1/1:-106.35,-10.8371,0:42:0:36:1223:0:0,36 . . . . . . . . . . . . . . . . . . . . +chr3 57846577 . CAAAAAAAAAATACTAAATAG AAAAAAAAAAATACTAAATAG 452.41 . AB=0.596491;ABP=7.61992;AC=5;AF=0.5;AN=10;AO=34;CIGAR=1X;DP=266;DPB=57;DPRA=0;EPP=5.30951;EPPR=3.10471;GTI=0;LEN=1;MEANALT=1;MQM=41.8824;MQMR=41.8261;NS=1;NUMALT=1;ODDS=97.2641;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1176;QR=783;RO=23;RPL=28;RPP=33.9218;RPPR=30.2953;RPR=6;RUN=1;SAF=14;SAP=5.30951;SAR=20;SF=3,6,21,24,27;SRF=8;SRP=7.63648;SRR=15;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:.,.,-51.3763:57:23:34:1176:783:23,34 . . 0/1:.,.,-32.8011:44:17:27:867:523:17,27 . . . . . . . . . . . . . . 0/1:.,.,-94.2442:57:42:13:477:1262:42,13 . . 0/1:-25.5382,0,-45.2411:39:17:10:364:614:17,10 . . 0/1:.,.,-81.8014:69:36:33:1072:1171:36,33 . . . . . . . . . +chr3 57850505 . CTTTTTTTTTTTTGGAC CTTTTTTTTTTTGGAC 13.03 . AB=0.160714;ABP=59.0033;AC=1;AF=0.5;AN=2;AO=9;CIGAR=1M1D15M;DP=56;DPB=55.5294;DPRA=0;EPP=3.25157;EPPR=4.33437;GTI=0;LEN=1;MEANALT=5;MQM=42;MQMR=41.0244;NS=1;NUMALT=1;ODDS=2.9483;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=296;QR=1439;RO=41;RPL=5;RPP=3.25157;RPPR=18.3165;RPR=4;RUN=1;SAF=3;SAP=5.18177;SAR=6;SF=21;SRF=16;SRP=7.30028;SRR=25;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs758312747;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2802;ExAC_nontcga_AFR=0.2354;ExAC_nontcga_AMR=0.3030;ExAC_nontcga_EAS=0.2420;ExAC_nontcga_FIN=0.1687;ExAC_nontcga_NFE=0.2738;ExAC_nontcga_OTH=0.2897;ExAC_nontcga_SAS=0.3520;AF=0.0082;AF_popmax=0.0199;AF_male=0.0092;AF_female=0.0070;AF_raw=0.0187;AF_afr=0.0048;AF_sas=.;AF_amr=0.0197;AF_eas=0.0199;AF_nfe=0.0038;AF_fin=0.0453;AF_asj=0.0129;AF_oth=0.0153;non_topmed_AF_popmax=0.0211;non_neuro_AF_popmax=0.0199;non_cancer_AF_popmax=.;controls_AF_popmax=0.0581;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-10.9358,0,-109.276:56:41:9:296:1439:41,9 . . . . . . . . . . . . . . . +chr3 57857438 . TAT TGT 340.19 . AB=0.548387;ABP=3.64073;AC=1;AF=0.5;AN=2;AO=17;CIGAR=1M1X1M;DP=31;DPB=31;DPRA=0;EPP=3.13803;EPPR=3.0103;GTI=0;LEN=1;MEANALT=3;MQM=38;MQMR=38.2;NS=1;NUMALT=1;ODDS=34.6084;PAIRED=0.647059;PAIREDR=0.7;PAO=0;PQA=0;PQR=0;PRO=0;QA=578;QR=370;RO=10;RPL=7;RPP=4.1599;RPPR=3.87889;RPR=10;RUN=1;SAF=2;SAP=24.5973;SAR=15;SF=10;SRF=1;SRP=16.9077;SRR=9;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-41.7649,0,-21.5392:31:10:17:578:370:10,17 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 57882601 . C T 889.81 . AB=0.372881;ABP=11.2913;AC=5;AF=0.5;AN=10;AO=22;CIGAR=1X;DP=402;DPB=59;DPRA=0;EPP=3.40511;EPPR=3.06899;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=106.173;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=818;QR=1313;RO=37;RPL=6;RPP=12.8806;RPPR=34.0565;RPR=16;RUN=1;SAF=10;SAP=3.40511;SAR=12;SF=5,12,20,25,27;SRF=21;SRP=4.47751;SRR=16;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-53.2924,0,-96.7988:59:37:22:818:1313:37,22 . . . . . . 0/1:-84.0974,0,-88.9759:67:35:32:1206:1252:35,32 . . . . . . . 0/1:-95.0234,0,-117.374:80:44:36:1376:1629:44,36 . . . . 0/1:-151.823,0,-92.5087:95:37:56:2080:1388:37,56 . 0/1:-98.9035,0,-154.748:101:60:41:1487:2125:60,41 . . . . . . . . . +chr3 57898376 . T A 3738.51 . AB=0.46789;ABP=5.9388;AC=1;AF=0.5;AN=2;AO=153;CIGAR=1X;DP=327;DPB=327;DPRA=0;EPP=13.3567;EPPR=12.1606;GTI=0;LEN=1;MEANALT=2;MQM=41.7778;MQMR=42;NS=1;NUMALT=1;ODDS=860.823;PAIRED=1;PAIREDR=0.982659;PAO=0;PQA=0;PQR=0;PRO=0;QA=5805;QR=6568;RO=173;RPL=129;RPP=159.484;RPPR=186.782;RPR=24;RUN=1;SAF=57;SAP=24.5973;SAR=96;SF=0;SRF=67;SRP=22.1017;SRR=106;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-401.3,0,-469.029:327:173:153:5805:6568:173,153 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 57898434 . T A 1506.62 . AB=0.621053;ABP=15.102;AC=1;AF=0.5;AN=2;AO=59;CIGAR=1X;DP=95;DPB=95;DPRA=0;EPP=3.0471;EPPR=3.9754;GTI=0;LEN=1;MEANALT=1;MQM=41.3898;MQMR=42;NS=1;NUMALT=1;ODDS=177.401;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2253;QR=1353;RO=36;RPL=43;RPP=29.8409;RPPR=43.7857;RPR=16;RUN=1;SAF=15;SAP=33.963;SAR=44;SF=6;SRF=15;SRP=5.18177;SRR=21;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SLMAP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs748524742;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.1153;dbscSNV_RF_SCORE=0.36;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.019e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.912e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-163.828,0,-88.666:95:36:59:2253:1353:36,59 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 57902639 . G A 2412.50 . AB=0.758929;ABP=68.232;AC=2;AF=0.5;AN=4;AO=85;CIGAR=1X;DP=315;DPB=112;DPRA=0;EPP=10.3933;EPPR=6.95112;GTI=0;LEN=1;MEANALT=1;MQM=41.9765;MQMR=42;NS=1;NUMALT=1;ODDS=81.1627;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3145;QR=983;RO=27;RPL=24;RPP=37.9838;RPPR=16.6021;RPR=61;RUN=1;SAF=71;SAP=86.0116;SAR=14;SF=21,25;SRF=22;SRP=26.2531;SRR=5;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-238.758,0,-51.757:112:27:85:3145:983:27,85 . . . 0/1:-289.401,0,-230.334:203:92:111:4048:3396:92,111 . . . . . . . . . . . +chr3 57908594 . CTTTTTTTTTCTTTGCC CTTTTTTTTCTTTGCC 2169.80 . AB=0;ABP=0;AC=9;AF=1;AN=14;AO=164;CIGAR=1M1D15M;DP=935;DPB=158.824;DPRA=0;EPP=31.0276;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=245.82;PAIRED=1;PAIREDR=0;PAO=5;PQA=185.5;PQR=185.5;PRO=5;QA=6004;QR=0;RO=0;RPL=28;RPP=157.45;RPPR=0;RPR=136;RUN=1;SAF=87;SAP=4.33437;SAR=77;SF=0,3,6,16,21,24,27;SRF=0;SRP=0;SRR=0;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 1/1:-520.682,-55.3895,0:168:0:164:6004:0:0,164 . . 0/1:-171.592,0,-136.851:123:54:65:2418:2015:54,65 . . 0/1:-151.99,0,-144.575:121:56:59:2156:2064:56,59 . . . . . . . . . 1/1:-397.593,-43.6494,0:134:0:129:4586:0:0,129 . . . . 0/1:-25.4894,0,-206.771:94:75:17:612:2686:75,17 . . 0/1:-82.9267,0,-120.473:79:45:34:1240:1672:45,34 . . 0/1:-288.376,0,-236.477:216:98:116:4158:3541:98,116 . . . . . . . . . +chr3 196771513 . G A 1356.75 . AB=0.464286;ABP=4.25114;AC=2;AF=0.5;AN=4;AO=52;CIGAR=1X;DP=199;DPB=112;DPRA=0;EPP=27.0635;EPPR=44.8473;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.4333;NS=1;NUMALT=1;ODDS=300.146;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2010;QR=2203;RO=60;RPL=33;RPP=11.1951;RPPR=5.32654;RPR=19;RUN=1;SAF=27;SAP=3.17734;SAR=25;SF=10,24;SRF=25;SRP=6.62942;SRR=35;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-139.749,0,-156.904:112:60:52:2010:2203:60,52 . . . . . . . . . . . . . 0/1:-149.735,0,-82.4417:87:34:53:2036:1249:34,53 . . . . . . . . . . . . +chr3 196771554 . T C 1283.63 . AB=0.443609;ABP=6.68384;AC=2;AF=0.5;AN=4;AO=59;CIGAR=1X;DP=222;DPB=133;DPRA=0;EPP=7.46366;EPPR=8.76177;GTI=0;LEN=1;MEANALT=1;MQM=41.9661;MQMR=41.5405;NS=1;NUMALT=1;ODDS=336.723;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2234;QR=2704;RO=74;RPL=34;RPP=5.99147;RPPR=8.76177;RPR=25;RUN=1;SAF=29;SAP=3.0471;SAR=30;SF=10,24;SRF=28;SRP=12.5178;SRR=46;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-153.457,0,-193.565:133:74:59:2234:2704:74,59 . . . . . . . . . . . . . 0/1:-118.705,0,-114.712:89:43:45:1676:1633:43,45 . . . . . . . . . . . . +chr3 196778438 . C T 2445.38 . AB=0.47;ABP=3.79203;AC=11;AF=0.5;AN=18;AO=47;CIGAR=1X;DP=1248;DPB=100;DPRA=0;EPP=3.42611;EPPR=5.01789;GTI=0;LEN=1;MEANALT=1;MQM=38.766;MQMR=39.8113;NS=1;NUMALT=1;ODDS=250.213;PAIRED=1;PAIREDR=0.981132;PAO=0;PQA=0;PQR=0;PRO=0;QA=1782;QR=1956;RO=53;RPL=23;RPP=3.0565;RPPR=3.37904;RPR=24;RUN=1;SAF=30;SAP=10.8184;SAR=17;SF=0,3,5,6,10,20,21,24,25;SRF=31;SRP=6.32897;SRR=22;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-115.471,0,-134.382:100:53:47:1782:1956:53,47 . . 0/1:-164.619,0,-163.113:129:65:64:2439:2395:65,64 . 0/1:-293.849,0,-206.636:202:87:115:4285:3164:87,115 1/1:-336.876,-31.714,0:110:1:109:4096:14:1,109 . . . 0/1:-162.162,0,-169.24:136:69:67:2457:2486:69,67 . . . . . . . . . 0/1:-191.872,0,-152.849:135:62:73:2764:2247:62,73 0/1:-87.7005,0,-141.415:89:53:36:1315:1925:53,36 . . 0/1:-123.08,0,-88.1206:82:35:47:1782:1294:35,47 1/1:-800.19,-79.773,0:265:0:265:9773:0:0,265 . . . . . . . . . . . +chr3 196792163 . C T 1489.09 . AB=0.504202;ABP=3.02855;AC=1;AF=0.5;AN=2;AO=60;CIGAR=1X;DP=119;DPB=119;DPRA=0;EPP=3.15506;EPPR=3.34154;GTI=0;LEN=1;MEANALT=1;MQM=41.6333;MQMR=42;NS=1;NUMALT=1;ODDS=327.409;PAIRED=0.966667;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2265;QR=2186;RO=59;RPL=19;RPP=20.5268;RPPR=19.2411;RPR=41;RUN=1;SAF=42;SAP=23.8564;SAR=18;SF=16;SRF=45;SRP=38.3795;SRR=14;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-158.897,0,-153.601:119:59:60:2265:2186:59,60 . . . . . . . . . . . . . . . . . . . . +chr3 196812473 . C T 2176.21 . AB=0.494318;ABP=3.05965;AC=1;AF=0.5;AN=2;AO=87;CIGAR=1X;DP=176;DPB=176;DPRA=0;EPP=4.23331;EPPR=3.63429;GTI=0;LEN=1;MEANALT=3;MQM=42;MQMR=41.7931;NS=1;NUMALT=1;ODDS=487.194;PAIRED=1;PAIREDR=0.988506;PAO=0;PQA=0;PQR=0;PRO=0;QA=3217;QR=3112;RO=87;RPL=30;RPP=21.2057;RPPR=3.23494;RPR=57;RUN=1;SAF=48;SAP=5.03202;SAR=39;SF=20;SRF=46;SRP=3.63429;SRR=41;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DLG1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DLG1:NM_001204387:exon12:c.G1567A:p.G523R,DLG1:NM_001204388:exon12:c.G1567A:p.G523R,DLG1:NM_001204386:exon16:c.G1816A:p.G606R,DLG1:NM_001098424:exon17:c.G1915A:p.G639R,DLG1:NM_001290983:exon17:c.G1915A:p.G639R,DLG1:NM_004087:exon17:c.G1915A:p.G639R;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs369412843;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=0.971;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=3.745;MutationAssessor_score_rankscore=0.951;MutationAssessor_pred=H;FATHMM_score=-2.35;FATHMM_converted_rankscore=0.881;FATHMM_pred=D;PROVEAN_score=-7.37;PROVEAN_converted_rankscore=0.947;PROVEAN_pred=D;VEST3_score=0.942;VEST3_rankscore=0.937;MetaSVM_score=1.057;MetaSVM_rankscore=0.983;MetaSVM_pred=D;MetaLR_score=0.898;MetaLR_rankscore=0.966;MetaLR_pred=D;M-CAP_score=0.528;M-CAP_rankscore=0.956;M-CAP_pred=D;REVEL_score=0.938;REVEL_rankscore=0.987;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.595;CADD_raw_rankscore=0.953;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.998;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.830;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.001;Eigen-PC-raw=0.905;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=5.33;GERP++_RS_rankscore=0.756;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=0.488;phastCons20way_mammalian_rankscore=0.269;SiPhy_29way_logOdds=17.999;SiPhy_29way_logOdds_rankscore=0.891;Interpro_domain=PDZ_domain\x3bSH3_domain|Variant_SH3_domain;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0001;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3dMIMAT0004586|hsa-miR-15b-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-226.197,0,-218.157:176:87:87:3217:3112:87,87 . . . . . . . . . . . . . . . . +chr3 196865242 . C T 926.16 . AB=0;ABP=0;AC=8;AF=1;AN=12;AO=40;CIGAR=1X;DP=305;DPB=41;DPRA=0;EPP=8.43898;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=60.0569;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1493;QR=0;RO=0;RPL=35;RPP=51.8684;RPPR=0;RPR=5;RUN=1;SAF=14;SAP=10.8276;SAR=26;SF=6,10,20,21,24,25;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 1/1:-129.504,-12.0412,0:41:0:40:1493:0:0,40 . . . 0/1:-96.0278,0,-40.2464:52:18:34:1285:638:18,34 . . . . . . . . . 0/1:-75.8278,0,-58.0216:51:23:28:1052:838:23,28 0/1:-16.4169,0,-92.6197:43:34:9:334:1219:34,9 . . 0/1:-30.5003,0,-44.5769:29:17:12:448:609:17,12 1/1:-281.771,-26.7917,0:89:0:89:3249:0:0,89 . . . . . . . . . . . +chr3 196869688 . A G 2408.42 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=63;CIGAR=1X;DP=1019;DPB=63;DPRA=0;EPP=45.2334;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.3968;MQMR=0;NS=1;NUMALT=1;ODDS=91.9417;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2267;QR=0;RO=0;RPL=40;RPP=12.9715;RPPR=0;RPR=23;RUN=1;SAF=42;SAP=18.2106;SAR=21;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-196.825,-18.9649,0:63:0:63:2267:0:0,63 . . 1/1:-231.837,-21.3731,0:71:0:71:2680:0:0,71 . 1/1:-261.967,-24.3834,0:81:0:81:3022:0:0,81 1/1:-205.79,-19.2659,0:64:0:64:2369:0:0,64 . . 1/1:-142.518,-13.5464,0:45:0:45:1647:0:0,45 1/1:-208.485,-19.567,0:65:0:65:2416:0:0,65 . 1/1:-327.264,-31.3071,0:104:0:104:3777:0:0,104 . . . 1/1:-232.465,-21.6742,0:72:0:72:2707:0:0,72 . . . 1/1:-264.88,-24.9855,0:83:0:83:3050:0:0,83 1/1:-220.281,-20.47,0:68:0:68:2536:0:0,68 . . 1/1:-111.953,-10.235,0:34:0:34:1290:0:0,34 1/1:-432.119,-40.9401,0:137:0:136:4984:0:0,136 . 1/1:-424.238,-39.4349,0:132:0:131:4896:0:0,131 . . . . . . . . . +chr3 196876600 . G A 1092.14 . AB=0.4875;ABP=3.11887;AC=4;AF=0.5;AN=6;AO=39;CIGAR=1X;DP=208;DPB=80;DPRA=0;EPP=3.51141;EPPR=3.06326;GTI=0;LEN=1;MEANALT=1;MQM=41.8974;MQMR=42;NS=1;NUMALT=1;ODDS=201.235;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1372;QR=1511;RO=41;RPL=29;RPP=23.1103;RPPR=67.8897;RPR=10;RUN=1;SAF=21;SAP=3.51141;SAR=18;SF=5,9,12;SRF=20;SRP=3.06326;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-95.2842,0,-107.045:80:41:39:1372:1511:41,39 . . . 1/1:-151.603,-14.1484,0:47:0:47:1747:0:0,47 . . 0/1:-101.626,0,-105.195:81:42:39:1455:1508:42,39 . . . . . . . . . . . . . . . . . . . . . . . . +chr3 196921360 . T C 1525.49 . AB=0.575472;ABP=8.25461;AC=1;AF=0.5;AN=2;AO=61;CIGAR=1X;DP=106;DPB=106;DPRA=0;EPP=3.0459;EPPR=4.21667;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9111;NS=1;NUMALT=1;ODDS=235.178;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2199;QR=1627;RO=45;RPL=34;RPP=4.7546;RPPR=3.44459;RPR=27;RUN=1;SAF=31;SAP=3.0459;SAR=30;SF=6;SRF=16;SRP=11.1654;SRR=29;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-159.339,0,-109.52:106:45:61:2199:1627:45,61 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114120284 . C T 416.75 . AB=0.461538;ABP=3.51141;AC=1;AF=0.5;AN=2;AO=18;CIGAR=1X;DP=39;DPB=39;DPRA=0;EPP=4.9405;EPPR=3.1137;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=95.9598;PAIRED=1;PAIREDR=0.952381;PAO=0;PQA=0;PQR=0;PRO=0;QA=682;QR=808;RO=21;RPL=12;RPP=7.35324;RPPR=26.2761;RPR=6;RUN=1;SAF=7;SAP=4.9405;SAR=11;SF=10;SRF=11;SRP=3.1137;SRR=10;TYPE=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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-47.6015,0,-58.2695:39:21:18:682:808:21,18 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114161619 . T C 1832.43 . AB=0.573643;ABP=9.08706;AC=1;AF=0.5;AN=2;AO=74;CIGAR=1X;DP=129;DPB=129;DPRA=0;EPP=4.06669;EPPR=3.36563;GTI=0;LEN=1;MEANALT=1;MQM=41.9459;MQMR=42;NS=1;NUMALT=1;ODDS=297.419;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2730;QR=2093;RO=55;RPL=13;RPP=70.6194;RPPR=51.3749;RPR=61;RUN=1;SAF=45;SAP=10.5224;SAR=29;SF=10;SRF=37;SRP=17.2631;SRR=18;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-198.178,0,-142.42:129:55:74:2730:2093:55,74 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114195737 . C T 3971.77 . AB=0.435013;ABP=16.8398;AC=1;AF=0.5;AN=2;AO=164;CIGAR=1X;DP=377;DPB=377;DPRA=0;EPP=3.22215;EPPR=5.30411;GTI=0;LEN=1;MEANALT=1;MQM=41.8902;MQMR=41.9812;NS=1;NUMALT=1;ODDS=914.535;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6017;QR=7850;RO=213;RPL=92;RPP=8.30657;RPPR=10.4422;RPR=72;RUN=1;SAF=80;SAP=3.22215;SAR=84;SF=0;SRF=103;SRP=3.50984;SRR=110;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon15:c.C1615T:p.R539W,ANK2:NM_020977:exon15:c.C1615T:p.R539W,ANK2:NM_001127493:exon16:c.C1552T:p.R518W;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs756495481;CLNALLELEID=188347;CLNDN=not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:CN169374|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=0.999;Polyphen2_HVAR_rankscore=0.916;Polyphen2_HVAR_pred=D;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.452;MutationTaster_pred=D;MutationAssessor_score=1.92;MutationAssessor_score_rankscore=0.515;MutationAssessor_pred=L;FATHMM_score=-0.23;FATHMM_converted_rankscore=0.672;FATHMM_pred=T;PROVEAN_score=-7.13;PROVEAN_converted_rankscore=0.951;PROVEAN_pred=D;VEST3_score=0.944;VEST3_rankscore=0.939;MetaSVM_score=-0.314;MetaSVM_rankscore=0.746;MetaSVM_pred=T;MetaLR_score=0.376;MetaLR_rankscore=0.734;MetaLR_pred=T;M-CAP_score=0.076;M-CAP_rankscore=0.725;M-CAP_pred=D;REVEL_score=0.460;REVEL_rankscore=0.760;MutPred_score=.;MutPred_rankscore=.;CADD_raw=7.219;CADD_raw_rankscore=0.946;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.982;fathmm-MKL_coding_score=0.402;fathmm-MKL_coding_rankscore=0.261;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=c;Eigen-raw=0.147;Eigen-PC-raw=0.075;GenoCanyon_score=0.004;GenoCanyon_score_rankscore=0.103;integrated_fitCons_score=0.615;integrated_fitCons_score_rankscore=0.372;integrated_confidence_value=0;GERP++_RS=2.2;GERP++_RS_rankscore=0.268;phyloP100way_vertebrate=-0.284;phyloP100way_vertebrate_rankscore=0.084;phyloP20way_mammalian=-0.571;phyloP20way_mammalian_rankscore=0.046;phastCons100way_vertebrate=0.079;phastCons100way_vertebrate_rankscore=0.221;phastCons20way_mammalian=0.984;phastCons20way_mammalian_rankscore=0.507;SiPhy_29way_logOdds=15.855;SiPhy_29way_logOdds_rankscore=0.787;Interpro_domain=Ankyrin_repeat-containing_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=3.682e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=3.186e-05;AF_popmax=6.486e-05;AF_male=0;AF_female=7.18e-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=9.027e-05;non_neuro_AF_popmax=7.349e-05;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\x3d99.890875;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-406.135,0,-567.681:377:213:164:6017:7850:213,164 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114213631 . C T 6089.13 . AB=0.487705;ABP=3.65106;AC=1;AF=0.5;AN=2;AO=238;CIGAR=1X;DP=488;DPB=488;DPRA=0;EPP=10.1634;EPPR=14.949;GTI=0;LEN=1;MEANALT=2;MQM=41.8067;MQMR=41.9076;NS=1;NUMALT=1;ODDS=1402.07;PAIRED=0.991597;PAIREDR=0.991968;PAO=0;PQA=0;PQR=0;PRO=0;QA=8904;QR=9416;RO=249;RPL=92;RPP=29.6154;RPPR=44.5299;RPR=146;RUN=1;SAF=129;SAP=6.65983;SAR=109;SF=3;SRF=133;SRP=5.5306;SRR=116;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-620.02,0,-666.969:488:249:238:8904:9416:249,238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114257201 . C T 3489.75 . AB=0.55642;ABP=10.1162;AC=1;AF=0.5;AN=2;AO=143;CIGAR=1X;DP=257;DPB=257;DPRA=0;EPP=14.0803;EPPR=5.3355;GTI=0;LEN=1;MEANALT=2;MQM=41.972;MQMR=42;NS=1;NUMALT=1;ODDS=600.546;PAIRED=0.993007;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5108;QR=4066;RO=113;RPL=110;RPP=93.0429;RPPR=79.2809;RPR=33;RUN=1;SAF=61;SAP=9.70694;SAR=82;SF=12;SRF=46;SRP=11.4848;SRR=67;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-367.767,0,-277.332:257:113:143:5108:4066:113,143 . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114260492 . G T 2004.60 . AB=0.522293;ABP=3.68802;AC=1;AF=0.5;AN=2;AO=82;CIGAR=1X;DP=157;DPB=157;DPRA=0;EPP=4.70511;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=41.3293;MQMR=42;NS=1;NUMALT=1;ODDS=414.339;PAIRED=0.963415;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3031;QR=2839;RO=75;RPL=66;RPP=69.2137;RPPR=110.744;RPR=16;RUN=1;SAF=39;SAP=3.434;SAR=43;SF=12;SRF=37;SRP=3.03925;SRR=38;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-214.11,0,-198.637:157:75:82:3031:2839:75,82 . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114275243 . C T 4488.25 . AB=0.423954;ABP=29.4313;AC=4;AF=0.5;AN=8;AO=223;CIGAR=1X;DP=1553;DPB=526;DPRA=0;EPP=4.18854;EPPR=9.89738;GTI=0;LEN=1;MEANALT=1;MQM=41.0673;MQMR=41.538;NS=1;NUMALT=1;ODDS=1208.68;PAIRED=0.977578;PAIREDR=0.990099;PAO=0;PQA=0;PQR=0;PRO=0;QA=8146;QR=10794;RO=303;RPL=84;RPP=32.4664;RPPR=24.6892;RPR=139;RUN=1;SAF=115;SAP=3.48744;SAR=108;SF=12,16,24,27;SRF=145;SRP=4.22145;SRR=158;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-537.975,0,-774.08:526:303:223:8146:10794:303,223 . . . 0/1:-521.394,0,-461.275:391:187:203:7367:6765:187,203 . . . . . . . 0/1:-303.517,0,-222.851:208:92:116:4271:3279:92,116 . . 0/1:-479.576,0,-552.442:428:225:202:7073:7892:225,202 . . . . . . . . . +chr4 114275600 . C T 2566.41 . AB=0.424812;ABP=16.0718;AC=1;AF=0.5;AN=2;AO=113;CIGAR=1X;DP=266;DPB=266;DPRA=0;EPP=3.49071;EPPR=6.24594;GTI=0;LEN=1;MEANALT=3;MQM=38.8407;MQMR=38.6556;NS=1;NUMALT=1;ODDS=590.938;PAIRED=0.964602;PAIREDR=0.993377;PAO=0;PQA=0;PQR=0;PRO=0;QA=4252;QR=5327;RO=151;RPL=51;RPP=5.3355;RPPR=4.17513;RPR=62;RUN=1;SAF=45;SAP=13.1759;SAR=68;SF=0;SRF=55;SRP=27.1841;SRR=96;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.C5826T:p.S1942S;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368036068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.655e-05;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0.0003;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=3.683e-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=3.88e-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\x3d99.865901;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-265.807,0,-358.565:266:151:113:4252:5327:151,113 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114276330 . G A 4226.85 . AB=0.482249;ABP=3.93542;AC=1;AF=0.5;AN=2;AO=163;CIGAR=1X;DP=338;DPB=338;DPRA=0;EPP=8.88527;EPPR=21.8835;GTI=0;LEN=1;MEANALT=1;MQM=41.6442;MQMR=41.8857;NS=1;NUMALT=1;ODDS=973.268;PAIRED=1;PAIREDR=0.994286;PAO=0;PQA=0;PQR=0;PRO=0;QA=6207;QR=6594;RO=175;RPL=87;RPP=4.62225;RPPR=3.02271;RPR=76;RUN=1;SAF=70;SAP=10.0576;SAR=93;SF=20;SRF=74;SRP=12.056;SRR=101;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=ANK2:NM_001148:exon38:c.G6556A:p.E2186K;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs745422554;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.096;SIFT_converted_rankscore=0.310;SIFT_pred=T;Polyphen2_HDIV_score=0.89;Polyphen2_HDIV_rankscore=0.501;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.272;Polyphen2_HVAR_rankscore=0.446;Polyphen2_HVAR_pred=B;LRT_score=0.032;LRT_converted_rankscore=0.251;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.192;MutationTaster_pred=N;MutationAssessor_score=2.075;MutationAssessor_score_rankscore=0.572;MutationAssessor_pred=M;FATHMM_score=-0.38;FATHMM_converted_rankscore=0.693;FATHMM_pred=T;PROVEAN_score=-0.23;PROVEAN_converted_rankscore=0.107;PROVEAN_pred=N;VEST3_score=0.245;VEST3_rankscore=0.299;MetaSVM_score=-0.709;MetaSVM_rankscore=0.600;MetaSVM_pred=T;MetaLR_score=0.286;MetaLR_rankscore=0.658;MetaLR_pred=T;M-CAP_score=0.059;M-CAP_rankscore=0.676;M-CAP_pred=D;REVEL_score=0.149;REVEL_rankscore=0.399;MutPred_score=-;MutPred_rankscore=.;CADD_raw=1.905;CADD_raw_rankscore=0.290;CADD_phred=15.62;DANN_score=0.991;DANN_rankscore=0.509;fathmm-MKL_coding_score=0.602;fathmm-MKL_coding_rankscore=0.309;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.045;Eigen-PC-raw=-0.012;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.500;integrated_fitCons_score=0.651;integrated_fitCons_score_rankscore=0.465;integrated_confidence_value=0;GERP++_RS=4.1;GERP++_RS_rankscore=0.470;phyloP100way_vertebrate=4.423;phyloP100way_vertebrate_rankscore=0.594;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.542;phastCons20way_mammalian_rankscore=0.278;SiPhy_29way_logOdds=16.833;SiPhy_29way_logOdds_rankscore=0.857;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=1.841e-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=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\x3d99.697450;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-431.203,0,-466.212:338:175:163:6207:6594:175,163 . . . . . . . . . . . . . . . . +chr4 114276422 . C G 2339.32 . AB=0.530726;ABP=4.47817;AC=1;AF=0.5;AN=2;AO=95;CIGAR=1X;DP=179;DPB=179;DPRA=0;EPP=27.9022;EPPR=29.4816;GTI=0;LEN=1;MEANALT=1;MQM=41.6211;MQMR=41.7262;NS=1;NUMALT=1;ODDS=453.163;PAIRED=1;PAIREDR=0.988095;PAO=0;PQA=0;PQR=0;PRO=0;QA=3441;QR=3037;RO=84;RPL=59;RPP=15.102;RPPR=17.9004;RPR=36;RUN=1;SAF=41;SAP=6.87324;SAR=54;SF=16;SRF=32;SRP=13.3506;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-244.674,0,-208.566:179:84:95:3441:3037:84,95 . . . . . . . . . . . . . . . . . . . . +chr4 114276880 . TTCAA CTCAG 6079.16 . AB=0.444109;ABP=20.9725;AC=4;AF=0.5;AN=8;AO=294;CIGAR=1X3M1X;DP=1952;DPB=662;DPRA=0;EPP=60.2072;EPPR=126.003;GTI=0;LEN=5;MEANALT=11;MQM=41.602;MQMR=41.8258;NS=1;NUMALT=1;ODDS=1646.08;PAIRED=0.996599;PAIREDR=0.983146;PAO=0;PQA=0;PQR=0;PRO=0;QA=10781;QR=13212;RO=356;RPL=196;RPP=73.9451;RPPR=52.4174;RPR=98;RUN=1;SAF=153;SAP=4.07388;SAR=141;SF=12,16,24,27;SRF=192;SRP=7.79242;SRR=164;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=ANK2:NM_001148:exon38:c.7106_7110CTCAG;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=Name\x3dENSR00000733758|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1217977|N/A|SMARCA4|PAZAR,OREG1857110|N/A|RUNX1|PAZAR,OREG0677412|N/A|FOXH1|JASPAR;ORegmiRNA=.;nCER95=Name\x3d99.472388,99.181926;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-736.769,0,-947.874:662:356:294:10781:13212:356,294 . . . 0/1:-628.522,0,-590.168:470:227:237:8796:8438:227,237 . . . . . . . 0/1:-340.946,0,-300.367:248:116:129:4794:4343:116,129 . . 0/1:-797.283,0,-663.203:572:263:301:10991:9622:263,301 . . . . . . . . . +chr4 114279422 . A G 4473.26 . AB=0.463617;ABP=8.54056;AC=4;AF=0.5;AN=8;AO=223;CIGAR=1X;DP=1442;DPB=481;DPRA=0;EPP=4.18854;EPPR=3.01875;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.7743;NS=1;NUMALT=1;ODDS=1265.55;PAIRED=1;PAIREDR=0.996109;PAO=0;PQA=0;PQR=0;PRO=0;QA=8207;QR=9326;RO=257;RPL=145;RPP=46.7221;RPPR=69.9373;RPR=78;RUN=1;SAF=82;SAP=36.9067;SAR=141;SF=12,16,24,27;SRF=88;SRP=58.4462;SRR=169;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-565.353,0,-661.283:481:257:223:8207:9326:257,223 . . . 0/1:-493.341,0,-465.407:367:179:187:7070:6684:179,187 . . . . . . . 0/1:-165.24,0,-215.549:148:82:66:2421:3000:82,66 . . 0/1:-619.75,0,-489.908:446:204:241:8704:7213:204,241 . . . . . . . . . +chr4 114279674 . C A 4650.53 . AB=0.446556;ABP=13.455;AC=1;AF=0.5;AN=2;AO=188;CIGAR=1X;DP=421;DPB=421;DPRA=0;EPP=31.8863;EPPR=20.2423;GTI=0;LEN=1;MEANALT=1;MQM=41.867;MQMR=41.9828;NS=1;NUMALT=1;ODDS=1070.82;PAIRED=1;PAIREDR=0.995708;PAO=0;PQA=0;PQR=0;PRO=0;QA=7012;QR=8763;RO=233;RPL=110;RPP=14.8379;RPPR=29.1891;RPR=78;RUN=1;SAF=79;SAP=13.4056;SAR=109;SF=5;SRF=107;SRP=6.37468;SRR=126;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-478.342,0,-629.854:421:233:188:7012:8763:233,188 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 114284645 . C T 1750.58 . AB=0.527919;ABP=4.34405;AC=4;AF=0.5;AN=8;AO=104;CIGAR=1X;DP=535;DPB=197;DPRA=0;EPP=39.8418;EPPR=48.7056;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9565;NS=1;NUMALT=1;ODDS=496.948;PAIRED=1;PAIREDR=0.98913;PAO=0;PQA=0;PQR=0;PRO=0;QA=3868;QR=3334;RO=92;RPL=62;RPP=11.3621;RPPR=21.515;RPR=42;RUN=1;SAF=39;SAP=17.1249;SAR=65;SF=12,16,24,27;SRF=36;SRP=12.4515;SRR=56;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-275.848,0,-229.975:197:92:104:3868:3334:92,104 . . . 0/1:-154.217,0,-181.229:130:68:62:2227:2547:68,62 . . . . . . . 0/1:-71.3049,0,-62.9434:51:24:27:996:900:24,27 . . 0/1:-242.447,0,-156.757:157:64:92:3332:2351:64,92 . . . . . . . . . +chr4 114286357 . ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC 731.02 . AB=0.54902,0.215686;ABP=4.07475,38.8183;AC=18,6,1,1;AF=0.5,0.5;AN=26;AO=28,11;CIGAR=1M2D35M,1M4D33M;DP=697;DPB=47.6579;DPRA=0,0;EPP=3.32051,19.0002;EPPR=0;GTI=0;LEN=2,4;MEANALT=13,13;MQM=41.1786,40.7273;MQMR=0;NS=1;NUMALT=2;ODDS=17.2521;PAIRED=1,1;PAIREDR=0;PAO=0.333333,0.333333;PQA=7.33333,7.33333;PQR=7.33333;PRO=0.333333;QA=945,324;QR=0;RO=0;RPL=24,7;RPP=34.0313,4.78696;RPPR=0;RPR=4,4;RUN=1,1;SAF=11,6;SAP=5.80219,3.20771;SAR=17,5;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=del,del;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs755471611;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.3042;ExAC_nontcga_AFR=0.1058;ExAC_nontcga_AMR=0.3076;ExAC_nontcga_EAS=0.3271;ExAC_nontcga_FIN=0.3177;ExAC_nontcga_NFE=0.3176;ExAC_nontcga_OTH=0.3157;ExAC_nontcga_SAS=0.3378;AF=0.0243;AF_popmax=0.0476;AF_male=0.0237;AF_female=0.0250;AF_raw=0.0443;AF_afr=0.0139;AF_sas=.;AF_amr=0.0476;AF_eas=0.0007;AF_nfe=0.0201;AF_fin=0.0878;AF_asj=0.0420;AF_oth=0.0439;non_topmed_AF_popmax=0.05;non_neuro_AF_popmax=0.0204;non_cancer_AF_popmax=.;controls_AF_popmax=0.0375;Kaviar_AF=0.0010284;Kaviar_AC=159;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.447315,95.653865;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34201791;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0305;ExAC_nontcga_AFR=0.0270;ExAC_nontcga_AMR=0.0422;ExAC_nontcga_EAS=0.0231;ExAC_nontcga_FIN=0.0157;ExAC_nontcga_NFE=0.0223;ExAC_nontcga_OTH=0.0392;ExAC_nontcga_SAS=0.0561;AF=0.0334;AF_popmax=0.0836;AF_male=0.0344;AF_female=0.0320;AF_raw=0.0319;AF_afr=0.0454;AF_sas=.;AF_amr=0.0683;AF_eas=0.0836;AF_nfe=0.0220;AF_fin=0.0178;AF_asj=0.0336;AF_oth=0.0323;non_topmed_AF_popmax=0.0843;non_neuro_AF_popmax=0.0836;non_cancer_AF_popmax=.;controls_AF_popmax=0.0876;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\x3d97.447315;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=ANK2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs34201791;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0300;ExAC_nontcga_AFR=0.0160;ExAC_nontcga_AMR=0.0155;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.0439;ExAC_nontcga_NFE=0.0420;ExAC_nontcga_OTH=0.0451;ExAC_nontcga_SAS=0.0160;AF=0.0863;AF_popmax=0.1164;AF_male=0.0856;AF_female=0.0872;AF_raw=0.0811;AF_afr=0.0390;AF_sas=.;AF_amr=0.0746;AF_eas=0.0027;AF_nfe=0.1164;AF_fin=0.1240;AF_asj=0.0798;AF_oth=0.1016;non_topmed_AF_popmax=0.1216;non_neuro_AF_popmax=0.1176;non_cancer_AF_popmax=.;controls_AF_popmax=0.1321;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\x3d97.447315;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/2:-97.8178,-25.0497,-15.7178,-73.7398,0,-69.5254,.,.,.,.,.,.,.,.,.:51:0:28,11,.,.:945,324,.,.:0:0,28,11 . . 1/1:-133.813,-13.6297,0,.,.,.,.,.,.,.,.,.,.,.,.:76:1:51,.,.,.:1576,.,.,.:37:1,51 . 1/1:-97.3983,-8.68561,0,.,.,.,.,.,.,.,.,.,.,.,.:61:3:39,.,.,.:1215,.,.,.:104:3,39 1/2:-42.5776,-13.6088,-12.1149,-27.1931,0,-27.5043,.,.,.,.,.,.,.,.,.:26:1:12,6,.,.:380,200,.,.:27:1,12,6 . . 1/2:-70.3246,-20.0641,-13.7424,-50.2893,0,-46.9779,.,.,.,.,.,.,.,.,.:49:0:21,11,.,.:646,271,.,.:0:0,21,11 1/2:-91.8382,-23.1461,-7.79353,-74.7596,0,-65.067,.,.,.,.,.,.,.,.,.:55:0:31,12,.,.:963,306,.,.:0:0,31,12 . 1/1:-68.444,-9.0309,0,.,.,.,.,.,.,.,.,.,.,.,.:57:0:26,.,.,.:789,.,.,.:0:0,26 . . . 1/4:-40.262,-18.9527,-12.1747,.,.,.,.,.,.,.,-24.7868,0,.,.,-18.9116:47:1:12,.,.,9:357,.,.,282:36:1,12,9 . . . 1/2:-206.439,-48.8823,-28.4122,-158.532,0,-151.608,.,.,.,.,.,.,.,.,.:101:0:65,20,.,.:2040,632,.,.:0:0,65,20 1/1:-32.7744,-3.61236,0,.,.,.,.,.,.,.,.,.,.,.,.:19:0:12,.,.,.:373,.,.,.:0:0,12 . . 1/3:-17.3597,-3.18917,-3.52201,.,.,.,-12.6481,0,.,-13.5773,.,.,.,.,.:15:1:5,.,3,.:184,.,68,.:36:1,5,3 1/2:-125.039,-36.7252,-26.5885,-87.3679,0,-83.2505,.,.,.,.,.,.,.,.,.:72:1:38,18,.,.:1156,507,.,.:28:1,38,18 . 1/1:-50.9827,-3.26312,0,.,.,.,.,.,.,.,.,.,.,.,.:68:2:24,.,.,.:650,.,.,.:65:2,24 . . . . . . . . . +chr4 114294308 . T C 3723.68 . AB=0.575521;ABP=22.0333;AC=4;AF=0.5;AN=8;AO=221;CIGAR=1X;DP=1094;DPB=384;DPRA=0;EPP=24.7152;EPPR=12.722;GTI=0;LEN=1;MEANALT=1;MQM=41.991;MQMR=41.8896;NS=1;NUMALT=1;ODDS=883.88;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7989;QR=5939;RO=163;RPL=168;RPP=132.955;RPPR=52.5812;RPR=53;RUN=1;SAF=118;SAP=5.22108;SAR=103;SF=12,16,24,27;SRF=89;SRP=6.00773;SRR=74;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-579.012,0,-399.089:384:163:221:7989:5939:163,221 . . . 0/1:-376.197,0,-292.372:258:114:143:5219:4277:114,143 . . . . . . . 0/1:-209.381,0,-119.192:127:49:78:2846:1811:49,78 . . 0/1:-387.971,0,-416.085:325:163:158:5579:5920:163,158 . . . . . . . . . +chr4 120079159 . A G 1012.67 . AB=0.465753;ABP=3.75395;AC=14;AF=0.5;AN=22;AO=34;CIGAR=1X;DP=700;DPB=73;DPRA=0;EPP=3.26577;EPPR=9.74743;GTI=0;LEN=1;MEANALT=1;MQM=41.9412;MQMR=42;NS=1;NUMALT=1;ODDS=171.968;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1223;QR=1419;RO=39;RPL=5;RPP=39.7976;RPPR=49.8362;RPR=29;RUN=1;SAF=19;SAP=4.03217;SAR=15;SF=0,5,6,9,10,12,16,20,21,24,27;SRF=19;SRP=3.06598;SRR=20;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-84.4384,0,-101.377:73:39:34:1223:1419:39,34 . . . . 1/1:-221.073,-20.7711,0:69:0:69:2594:0:0,69 0/1:-49.1222,0,-69.2486:45:25:20:719:954:25,20 . . 0/1:-52.5918,0,-56.7633:42:21:21:751:799:21,21 0/1:-122.487,0,-68.0844:73:28:45:1668:1037:28,45 . 0/1:-97.6663,0,-88.3572:73:36:37:1389:1268:36,37 . . . 0/1:-86.1611,0,-130.284:82:48:34:1281:1814:48,34 . . . 1/1:-241.706,-22.8783,0:76:0:76:2852:0:0,76 1/1:-134.684,-12.6433,0:42:0:42:1553:0:0,42 . . 0/1:-44.467,0,-62.6935:40:23:17:650:858:23,17 . . 0/1:-99.7462,0,-121.362:85:46:39:1448:1694:46,39 . . . . . . . . . +chr4 120085448 . A G 2860.24 . AB=0.457014;ABP=6.55737;AC=3;AF=0.5;AN=6;AO=101;CIGAR=1X;DP=804;DPB=221;DPRA=0;EPP=18.6836;EPPR=36.7502;GTI=0;LEN=1;MEANALT=2;MQM=41.9604;MQMR=41.9832;NS=1;NUMALT=1;ODDS=545.813;PAIRED=1;PAIREDR=0.991597;PAO=0;PQA=0;PQR=0;PRO=0;QA=3591;QR=4417;RO=119;RPL=50;RPP=3.0318;RPPR=14.4151;RPR=51;RUN=1;SAF=45;SAP=5.61177;SAR=56;SF=0,3,27;SRF=63;SRP=3.90444;SRR=56;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-245.767,0,-316.014:221:119:101:3591:4417:119,101 . . 0/1:-257.969,0,-314.825:224:120:104:3745:4409:120,104 . . . . . . . . . . . . . . . . . . . . . . . 0/1:-381.533,0,-521.896:359:200:158:5642:7272:200,158 . . . . . . . . . +chr4 186064502 . G A 757.61 . AB=0.584906;ABP=6.32897;AC=1;AF=0.5;AN=2;AO=31;CIGAR=1X;DP=53;DPB=53;DPRA=0;EPP=6.44263;EPPR=4.58955;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=99.2224;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1166;QR=798;RO=22;RPL=4;RPP=40.0654;RPPR=50.7827;RPR=27;RUN=1;SAF=19;SAP=6.44263;SAR=12;SF=27;SRF=13;SRP=4.58955;SRR=9;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-85.3457,0,-53.9526:53:22:31:1166:798:22,31 . . . . . . . . . +chr4 186066373 . T C 1040.67 . AB=0.445545;ABP=5.61177;AC=1;AF=0.5;AN=2;AO=45;CIGAR=1X;DP=101;DPB=101;DPRA=0;EPP=5.37479;EPPR=6.88793;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=239.624;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1625;QR=2048;RO=56;RPL=27;RPP=6.91895;RPPR=5.49198;RPR=18;RUN=1;SAF=19;SAP=5.37479;SAR=26;SF=10;SRF=27;SRP=3.16541;SRR=29;TYPE=snp;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 GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-111.057,0,-147.03:101:56:45:1625:2048:56,45 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 186423637 . G A 5004.58 . AB=0;ABP=0;AC=21;AF=1;AN=22;AO=154;CIGAR=1X;DP=1869;DPB=154;DPRA=0;EPP=19.3104;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.4286;MQMR=0;NS=1;NUMALT=1;ODDS=218.095;PAIRED=0.993506;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5396;QR=0;RO=0;RPL=115;RPP=84.4546;RPPR=0;RPR=39;RUN=1;SAF=63;SAP=14.0651;SAR=91;SF=3,5,6,9,10,12,16,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-466.631,-46.3586,0:154:0:154:5396:0:0,154 . 1/1:-504.417,-47.8638,0:161:0:159:5846:0:0,159 1/1:-388.947,-37.0267,0:123:0:123:4491:0:0,123 . . 1/1:-421.538,-40.037,0:133:0:133:4853:0:0,133 1/1:-511.178,-49.3689,0:165:0:164:5925:0:0,164 . 1/1:-693.203,-67.4307,0:224:0:224:8157:0:0,224 . . . 1/1:-518.243,-48.1648,0:162:0:160:6004:0:0,160 . . . . 0/1:-149.597,0,-83.6188:95:37:58:2047:1298:37,58 . . 1/1:-333.002,-31.6082,0:105:0:105:3839:0:0,105 1/1:-894.497,-88.2018,0:295:0:293:10328:0:0,293 . 1/1:-766.364,-75.5585,0:252:0:251:8860:0:0,251 . . . . . . . . . +chr4 186423655 . G A 1793.99 . AB=0.522936;ABP=3.50834;AC=5;AF=0.5;AN=10;AO=57;CIGAR=1X;DP=756;DPB=109;DPRA=0;EPP=49.6779;EPPR=16.5402;GTI=0;LEN=1;MEANALT=1;MQM=41.2281;MQMR=41.2692;NS=1;NUMALT=1;ODDS=273.182;PAIRED=1;PAIREDR=0.980769;PAO=0;PQA=0;PQR=0;PRO=0;QA=2136;QR=1874;RO=52;RPL=35;RPP=9.44853;RPPR=19.7139;RPR=22;RUN=1;SAF=24;SAP=6.09608;SAR=33;SF=3,5,21,25,27;SRF=19;SRP=11.1951;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-150.494,0,-128.529:109:52:57:2136:1874:52,57 . 0/1:-156.023,0,-155.445:119:59:60:2240:2212:59,60 . . . . . . . . . . . . . . . 0/1:-67.2493,0,-137.888:80:52:28:1053:1880:52,28 . . . 0/1:-310.545,0,-326.954:247:127:120:4477:4646:127,120 . 0/1:-272.819,0,-245.324:201:95:105:3884:3542:95,105 . . . . . . . . . +chr4 186446257 . G A 1819.02 . AB=0.408867;ABP=17.6544;AC=1;AF=0.5;AN=2;AO=83;CIGAR=1X;DP=203;DPB=203;DPRA=0;EPP=3.66436;EPPR=8.28388;GTI=0;LEN=1;MEANALT=2;MQM=41.9518;MQMR=41.9832;NS=1;NUMALT=1;ODDS=418.845;PAIRED=1;PAIREDR=0.991597;PAO=0;PQA=0;PQR=0;PRO=0;QA=2908;QR=4405;RO=119;RPL=26;RPP=28.1523;RPPR=58.2095;RPR=57;RUN=1;SAF=46;SAP=5.12945;SAR=37;SF=3;SRF=72;SRP=14.4151;SRR=47;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-192.542,0,-320.707:203:119:83:2908:4405:119,83 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr4 186456617 . A G 1596.42 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=52;CIGAR=1X;DP=752;DPB=52;DPRA=0;EPP=5.68288;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=76.6925;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1941;QR=0;RO=0;RPL=52;RPP=115.927;RPPR=0;RPR=0;RUN=1;SAF=22;SAP=5.68288;SAR=30;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-168.459,-15.6536,0:52:0:52:1941:0:0,52 . . 1/1:-135.213,-12.9443,0:43:0:43:1555:0:0,43 . 1/1:-213.367,-19.868,0:66:0:66:2458:0:0,66 1/1:-157.289,-15.0515,0:50:0:50:1806:0:0,50 . . 1/1:-166.7,-15.9546,0:54:0:53:1921:0:0,53 1/1:-211.718,-21.3731,0:71:0:71:2475:0:0,71 . 1/1:-265.521,-26.1896,0:87:0:87:3053:0:0,87 . . . 1/1:-181.088,-14.581,0:58:1:57:2121:29:1,57 . . . 1/1:-263.344,-24.9855,0:83:0:83:3065:0:0,83 1/1:-62.7826,-6.32163,0:21:0:21:718:0:0,21 . . 1/1:-82.8828,-8.12781,0:27:0:27:944:0:0,27 1/1:-248.158,-23.4803,0:78:0:78:2856:0:0,78 . 1/1:-188.346,-18.6639,0:62:0:62:2179:0:0,62 . . . . . . . . . +chr5 223646 . A T 1277.39 . AB=0.47079;ABP=5.16685;AC=1;AF=0.5;AN=2;AO=137;CIGAR=1X;DP=291;DPB=291;DPRA=0;EPP=10.0002;EPPR=3.0667;GTI=0;LEN=1;MEANALT=1;MQM=18.4599;MQMR=29.9481;NS=1;NUMALT=1;ODDS=294.13;PAIRED=0.992701;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5136;QR=5771;RO=154;RPL=56;RPP=12.9167;RPPR=5.04077;RPR=81;RUN=1;SAF=74;SAP=4.92817;SAR=63;SF=12;SRF=77;SRP=3.0103;SRR=77;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-136.662,0,-308.918:291:154:137:5136:5771:154,137 . . . . . . . . . . . . . . . . . . . . . . . . +chr5 224633 . A G 292.47 . AB=0.433735;ABP=9.34158;AC=4;AF=0.5;AN=8;AO=72;CIGAR=1X;DP=915;DPB=166;DPRA=0;EPP=6.02623;EPPR=4.48875;GTI=0;LEN=1;MEANALT=1;MQM=13.6389;MQMR=30.1383;NS=1;NUMALT=1;ODDS=51.5048;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2667;QR=3483;RO=94;RPL=61;RPP=78.4086;RPPR=116.204;RPR=11;RUN=1;SAF=32;SAP=4.9405;SAR=40;SF=0,5,16,25;SRF=41;SRP=6.33681;SRR=53;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-37.9476,0,-193.511:166:94:72:2667:3483:94,72 . . . . 0/1:-53.5096,0,-308.645:268:153:115:4083:5711:153,115 . . . . . . . . . . 0/1:-51.022,0,-204.322:212:112:98:3496:4041:112,98 . . . . . . . . 0/1:-47.8157,0,-293.321:269:157:111:4020:5658:157,111 . . . . . . . . . . . +chr5 226160 . A C 433.39 . AB=0.461538;ABP=4.17955;AC=4;AF=0.5;AN=8;AO=42;CIGAR=1X;DP=414;DPB=91;DPRA=0;EPP=4.87156;EPPR=4.6389;GTI=0;LEN=1;MEANALT=2;MQM=20.5952;MQMR=28.0417;NS=1;NUMALT=1;ODDS=86.3589;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1454;QR=1747;RO=48;RPL=35;RPP=43.5445;RPPR=14.5915;RPR=7;RUN=1;SAF=13;SAP=16.2459;SAR=29;SF=0,5,16,25;SRF=15;SRP=17.6677;SRR=33;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-49.2108,0,-87.1106:91:48:42:1454:1747:48,42 . . . . 0/1:-41.9309,0,-91.7397:91:49:42:1518:1742:49,42 . . . . . . . . . . 0/1:-53.5637,0,-76.6138:87:42:45:1658:1546:42,45 . . . . . . . . 0/1:-74.3281,0,-133.668:145:75:70:2503:2689:75,70 . . . . . . . . . . . +chr5 228362 . T C 453.14 . AB=0.536913;ABP=6.53712;AC=4;AF=0.5;AN=8;AO=160;CIGAR=1X;DP=1394;DPB=298;DPRA=0;EPP=51.8684;EPPR=54.5075;GTI=0;LEN=1;MEANALT=2;MQM=10.1062;MQMR=28.9781;NS=1;NUMALT=1;ODDS=39.1605;PAIRED=0.99375;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5774;QR=5226;RO=137;RPL=136;RPP=173.254;RPPR=134.266;RPR=24;RUN=1;SAF=46;SAP=65.7659;SAR=114;SF=0,5,16,25;SRF=41;SRP=50.957;SRR=96;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-54.3879,0,-258.97:298:137:160:5774:5226:137,160 . . . . 0/1:-76.1954,0,-285.614:339:156:182:6695:5755:156,182 . . . . . . . . . . 0/1:-103.531,0,-211.249:288:121:167:6181:4585:121,167 . . . . . . . . 0/1:-71.7417,0,-448.689:469:244:225:8307:9127:244,225 . . . . . . . . . . . +chr5 230980 . A G 4613.43 . AB=0;ABP=0;AC=21;AF=1;AN=24;AO=260;CIGAR=1X;DP=3185;DPB=260;DPRA=0;EPP=12.665;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=22.25;MQMR=0;NS=1;NUMALT=1;ODDS=365.042;PAIRED=0.984615;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9875;QR=0;RO=0;RPL=78;RPP=93.3436;RPPR=0;RPR=182;RUN=1;SAF=157;SAP=27.3642;SAR=103;SF=0,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-512.795,-78.2678,0:260:0:260:9875:0:0,260 . . . . 1/1:-609.659,-94.2224,0:313:0:313:11880:0:0,313 1/1:-386.064,-54.0977,0:191:1:190:7187:37:1,190 . . 1/1:-481.906,-70.14,0:233:0:233:8826:0:0,233 1/1:-553.42,-83.6863,0:279:0:278:10386:0:0,278 . 1/1:-722.1,-108.973,0:362:0:362:13622:0:0,362 . . . 1/1:-579.929,-88.8039,0:295:0:295:11133:0:0,295 . . . 1/1:-747.16,-114.382,0:385:1:383:14404:15:1,383 0/1:-56.57,0,-87.0288:74:37:37:1378:1338:37,37 . . 0/1:-83.2057,0,-121.929:113:55:58:2222:2030:55,58 1/1:-706.138,-104.156,0:346:0:346:13006:0:0,346 . 0/1:-257.375,0,-329.109:334:150:184:6876:5620:150,184 . . . . . . . . . +chr5 231111 . T C 2691.43 . AB=0;ABP=0;AC=17;AF=1;AN=22;AO=219;CIGAR=1X;DP=2578;DPB=221;DPRA=0;EPP=5.24126;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=19.1324;MQMR=0;NS=1;NUMALT=1;ODDS=308.204;PAIRED=0.995434;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8040;QR=0;RO=0;RPL=178;RPP=189.112;RPPR=0;RPR=41;RUN=1;SAF=96;SAP=10.2386;SAR=123;SF=0,5,6,9,10,12,16,20,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-371.816,-65.9256,0:221:0:219:8040:0:0,219 . . . . 1/1:-435.809,-78.2678,0:261:0:260:9652:0:0,260 1/1:-287.322,-46.0576,0:153:0:153:5524:0:0,153 . . 0/1:-150.64,0,-126.887:192:78:114:4250:2864:78,114 1/1:-363.125,-59.6039,0:198:0:198:7311:0:0,198 . 1/1:-590.664,-101.447,0:337:0:337:12415:0:0,337 . . . 0/1:-88.8731,0,-221.102:220:118:102:3743:4421:118,102 . . . 1/1:-507.015,-85.7936,0:285:0:285:10457:0:0,285 . . . 0/1:-42.4027,0,-150.441:110:67:42:1579:2491:67,42 0/1:-155.489,0,-245.084:285:130:155:5564:4849:130,155 . 0/1:-195.101,0,-324.044:316:154:161:5855:5564:154,161 . . . . . . . . . +chr5 231143 . T C 593.55 . AB=0.432258;ABP=9.18849;AC=4;AF=0.5;AN=8;AO=67;CIGAR=1X;DP=688;DPB=155;DPRA=0;EPP=12.3768;EPPR=6.56362;GTI=0;LEN=1;MEANALT=1;MQM=17.5224;MQMR=22.8977;NS=1;NUMALT=1;ODDS=100.872;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2411;QR=3131;RO=88;RPL=53;RPP=52.306;RPPR=91.8433;RPR=14;RUN=1;SAF=28;SAP=6.93191;SAR=39;SF=0,5,16,25;SRF=36;SRP=9.32731;SRR=52;TYPE=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=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:GL:DP:RO:AO:QA:QR:AD 0/1:-57.1424,0,-129.158:155:88:67:2411:3131:88,67 . . . . 0/1:-74.2072,0,-136.04:174:94:80:2902:3402:94,80 . . . . . . . . . . 0/1:-60.2797,0,-162.991:148:82:65:2373:3042:82,65 . . . . . . . . 0/1:-110.84,0,-200.177:211:104:106:3813:3739:104,106 . . . . . . . . . . . +chr5 233734 . C G 849.72 . AB=0.580645;ABP=15.2686;AC=4;AF=0.5;AN=8;AO=126;CIGAR=1X;DP=986;DPB=217;DPRA=0;EPP=14.6604;EPPR=15.6335;GTI=0;LEN=1;MEANALT=1;MQM=14.9524;MQMR=29.2967;NS=1;NUMALT=1;ODDS=213.152;PAIRED=0.992063;PAIREDR=0.989011;PAO=0;PQA=0;PQR=0;PRO=0;QA=4691;QR=3402;RO=91;RPL=76;RPP=14.6604;RPPR=39.3049;RPR=50;RUN=1;SAF=58;SAP=4.73369;SAR=68;SF=0,5,16,25;SRF=39;SRP=7.04303;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-103.009,0,-167.287:217:91:126:4691:3402:91,126 . . . . 0/1:-96.9475,0,-216.628:249:117:132:4956:4292:117,132 . . . . . . . . . . 0/1:-63.524,0,-209.639:207:108:99:3686:4051:108,99 . . . . . . . . 0/1:-118.908,0,-277.724:313:145:168:6201:5356:145,168 . . . . . . . . . . . +chr5 251541 . A G 805.04 . AB=0.45993;ABP=7.01277;AC=4;AF=0.5;AN=8;AO=132;CIGAR=1X;DP=1625;DPB=287;DPRA=0;EPP=14.1309;EPPR=25.5711;GTI=0;LEN=1;MEANALT=2;MQM=12.7121;MQMR=25.4805;NS=1;NUMALT=1;ODDS=121.824;PAIRED=1;PAIREDR=0.987013;PAO=0;PQA=0;PQR=0;PRO=0;QA=4844;QR=5590;RO=154;RPL=45;RPP=32.0291;RPPR=3.91273;RPR=87;RUN=1;SAF=66;SAP=3.0103;SAR=66;SF=0,5,16,25;SRF=80;SRP=3.51792;SRR=74;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-64.1187,0,-252.09:287:154:132:4844:5590:154,132 . . . . 0/1:-128.69,0,-363.639:474:238:236:8591:8658:238,236 . . . . . . . . . . 0/1:-66.5002,0,-291.655:334:179:154:5473:6538:179,154 . . . . . . . . 0/1:-113.837,0,-469.637:530:280:250:8802:10195:280,250 . . . . . . . . . . . +chr5 256472 . G A 947.55 . AB=0.492754;ABP=3.10471;AC=4;AF=0.5;AN=8;AO=102;CIGAR=1X;DP=1052;DPB=207;DPRA=0;EPP=3.7767;EPPR=7.66346;GTI=0;LEN=1;MEANALT=1;MQM=16.7255;MQMR=29.8857;NS=1;NUMALT=1;ODDS=176.394;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3755;QR=3819;RO=105;RPL=41;RPP=11.5259;RPPR=31.3222;RPR=61;RUN=1;SAF=53;SAP=3.35092;SAR=49;SF=0,5,16,25;SRF=52;SRP=3.03098;SRR=53;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-84.1416,0,-203.082:207:105:102:3755:3819:105,102 . . . . 0/1:-115.713,0,-238.915:291:120:171:6324:4382:120,171 . . . . . . . . . . 0/1:-83.9636,0,-196.196:241:104:137:5181:3842:104,137 . . . . . . . . 0/1:-138.383,0,-254.391:313:138:175:6424:4817:138,175 . . . . . . . . . . . +chr5 256509 . G A 937.79 . AB=0.470588;ABP=5.18177;AC=4;AF=0.5;AN=8;AO=136;CIGAR=1X;DP=1467;DPB=289;DPRA=0;EPP=4.03217;EPPR=4.4389;GTI=0;LEN=1;MEANALT=2;MQM=15.2279;MQMR=29.1974;NS=1;NUMALT=1;ODDS=182.389;PAIRED=0.992647;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4928;QR=5367;RO=152;RPL=41;RPP=49.5692;RPPR=81.2405;RPR=95;RUN=1;SAF=65;SAP=3.5851;SAR=71;SF=0,5,16,25;SRF=74;SRP=3.23888;SRR=78;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-91.1361,0,-285.123:289:152:136:4928:5367:152,136 . . . . 0/1:-106.6,0,-407.104:426:237:189:6807:8429:237,189 . . . . . . . . . . 0/1:-86.4281,0,-257.483:297:160:137:5066:5704:160,137 . . . . . . . . 0/1:-148.353,0,-365.903:455:228:226:7969:7865:228,226 . . . . . . . . . . . +chr5 37294473 . T C 1582.11 . AB=0.483516;ABP=3.22506;AC=7;AF=0.5;AN=14;AO=44;CIGAR=1X;DP=862;DPB=91;DPRA=0;EPP=15.6443;EPPR=36.6912;GTI=0;LEN=1;MEANALT=1;MQM=41.1818;MQMR=41.1277;NS=1;NUMALT=1;ODDS=238.45;PAIRED=0.977273;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1617;QR=1684;RO=47;RPL=16;RPP=10.1169;RPPR=8.60069;RPR=28;RUN=1;SAF=24;SAP=3.79993;SAR=20;SF=0,3,6,10,12,16,25;SRF=26;SRP=4.16534;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-111.467,0,-116.78:91:47:44:1617:1684:47,44 . . 0/1:-140.018,0,-98.8236:94:42:52:1944:1471:42,52 . . 0/1:-130.553,0,-113.472:97:45:52:1848:1644:45,52 . . . 0/1:-157.972,0,-122.823:109:50:59:2202:1787:50,59 . 0/1:-214.904,0,-209.523:168:85:83:3059:2985:85,83 . . . 0/1:-160.649,0,-123.215:113:52:61:2245:1799:52,61 . . . . . . . . 0/1:-253.139,0,-230.015:190:92:98:3577:3314:92,98 . . . . . . . . . . . +chr5 37307389 . T C 1276.64 . AB=0.455172;ABP=5.54119;AC=1;AF=0.5;AN=2;AO=66;CIGAR=1X;DP=145;DPB=145;DPRA=0;EPP=55.6521;EPPR=31.5964;GTI=0;LEN=1;MEANALT=3;MQM=41.0909;MQMR=40.9589;NS=1;NUMALT=1;ODDS=293.958;PAIRED=0.984848;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2107;QR=2278;RO=73;RPL=32;RPP=3.1419;RPPR=3.75395;RPR=34;RUN=1;SAF=43;SAP=16.1707;SAR=23;SF=25;SRF=55;SRP=43.7328;SRR=18;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-140.816,0,-156.222:145:73:66:2107:2278:73,66 . . . . . . . . . . . +chr5 37309371 . TAGAAGAGG TAGAGG 985.57 . AB=0.397436;ABP=10.1372;AC=7;AF=0.5;AN=14;AO=31;CIGAR=1M3D5M;DP=704;DPB=67.6667;DPRA=0;EPP=11.486;EPPR=12.2627;GTI=0;LEN=3;MEANALT=2;MQM=42;MQMR=41.913;NS=1;NUMALT=1;ODDS=129.529;PAIRED=1;PAIREDR=0.978261;PAO=0;PQA=0;PQR=0;PRO=0;QA=1016;QR=1653;RO=46;RPL=24;RPP=23.254;RPPR=71.1757;RPR=7;RUN=1;SAF=14;SAP=3.64073;SAR=17;SF=0,3,6,10,12,16,25;SRF=26;SRP=4.70971;SRR=20;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD 0/1:-65.432,0,-120.943:78:46:31:1016:1653:46,31 . . 0/1:-90.7291,0,-84.8995:71:33:37:1286:1219:33,37 . . 0/1:-92.1349,0,-112.673:84:44:40:1349:1578:44,40 . . . 0/1:-128.827,0,-108.598:96:43:51:1811:1572:43,51 . 0/1:-118.144,0,-112.791:96:45:50:1684:1640:45,50 . . . 0/1:-93.4043,0,-129.86:90:49:40:1385:1804:49,40 . . . . . . . . 0/1:-199.471,0,-254.65:189:98:89:2941:3577:98,89 . . . . . . . . . . . +chr5 37333727 . A G 558.43 . AB=0.408451;ABP=8.17902;AC=9;AF=0.5;AN=18;AO=29;CIGAR=1X;DP=536;DPB=71;DPRA=0;EPP=3.08518;EPPR=13.1438;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.5476;NS=1;NUMALT=1;ODDS=144.5;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1074;QR=1580;RO=42;RPL=24;RPP=30.0414;RPPR=55.9529;RPR=5;RUN=1;SAF=10;SAP=9.07545;SAR=19;SF=0,5,9,10,12,20,21,24,25;SRF=9;SRP=32.7905;SRR=33;TYPE=snp;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\x3dMIMAT0003393|hsa-miR-425-5p|Experimental,MIMAT0000272|hsa-miR-215-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.118516;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-72.2167,0,-115.433:71:42:29:1074:1580:42,29 . . . . 0/1:-61.4677,0,-101.92:64:37:27:924:1397:37,27 . . . 0/1:-71.2981,0,-64.341:53:25:28:998:924:25,28 0/1:-69.8233,0,-95.071:63:35:28:1017:1312:35,28 . 0/1:-87.4393,0,-94.1452:72:37:35:1268:1333:37,35 . . . . . . . 0/1:-60.0034,0,-80.5976:54:30:24:882:1128:30,24 0/1:-36.8874,0,-90.3484:50:33:17:588:1214:33,17 . . 0/1:-40.7347,0,-30.3521:27:12:15:559:438:12,15 0/1:-87.0143,0,-119.634:82:46:36:1284:1662:46,36 . . . . . . . . . . . +chr5 37341352 . T C 2024.88 . AB=0.533333;ABP=4.31318;AC=4;AF=0.5;AN=8;AO=72;CIGAR=1X;DP=659;DPB=135;DPRA=0;EPP=6.02623;EPPR=18.2106;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=353.437;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2638;QR=2356;RO=63;RPL=46;RPP=15.074;RPPR=24.5527;RPR=26;RUN=1;SAF=25;SAP=17.6074;SAR=47;SF=0,6,12,25;SRF=25;SRP=8.83536;SRR=38;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-188.969,0,-164.067:135:63:72:2638:2356:63,72 . . . . . 0/1:-190.317,0,-174.179:140:68:72:2677:2491:68,72 . . . . . 0/1:-216.811,0,-225.055:176:87:88:3141:3200:87,88 . . . . . . . . . . . . 0/1:-260.792,0,-267.154:208:103:102:3718:3790:103,102 . . . . . . . . . . . +chr5 37348573 . C A 1334.59 . AB=0.45082;ABP=5.57335;AC=1;AF=0.5;AN=2;AO=55;CIGAR=1X;DP=122;DPB=122;DPRA=0;EPP=11.8936;EPPR=17.3031;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9104;NS=1;NUMALT=1;ODDS=307.302;PAIRED=0.981818;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2085;QR=2523;RO=67;RPL=21;RPP=9.68264;RPPR=26.6372;RPR=34;RUN=1;SAF=39;SAP=23.8959;SAR=16;SF=0;SRF=39;SRP=6.93191;SRR=28;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=NUP155;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0127796;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs114983068;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0029;ExAC_nontcga_AFR=0.0318;ExAC_nontcga_AMR=0.0010;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0001;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=0;AF=0.0078;AF_popmax=0.0276;AF_male=0.0076;AF_female=0.0081;AF_raw=0.0079;AF_afr=0.0276;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=6.488e-05;AF_fin=0;AF_asj=0;AF_oth=0.0018;non_topmed_AF_popmax=0.0276;non_neuro_AF_popmax=0.0290;non_cancer_AF_popmax=.;controls_AF_popmax=0.0307;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=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-143.424,0,-181.616:122:67:55:2085:2523:67,55 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr5 37350390 . C A 872.80 . AB=0.423913;ABP=7.63648;AC=8;AF=0.5;AN=16;AO=39;CIGAR=1X;DP=711;DPB=92;DPRA=0;EPP=9.74743;EPPR=6.32897;GTI=0;LEN=1;MEANALT=1;MQM=41.9487;MQMR=42;NS=1;NUMALT=1;ODDS=204.756;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1447;QR=2004;RO=53;RPL=29;RPP=23.1103;RPPR=42.3836;RPR=10;RUN=1;SAF=19;SAP=3.06598;SAR=20;SF=5,9,10,12,20,21,24,25;SRF=20;SRP=9.93443;SRR=33;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-97.8651,0,-146.127:92:53:39:1447:2004:53,39 . . . 0/1:-101.067,0,-67.903:64:27:37:1387:999:27,37 0/1:-67.9384,0,-136.489:78:50:28:1056:1841:50,28 . 0/1:-150.265,0,-152.439:115:59:56:2139:2151:59,56 . . . . . . . 0/1:-107.728,0,-153.921:100:58:42:1593:2117:58,42 0/1:-17.2402,0,-186.512:82:68:14:478:2433:68,14 . . 0/1:-51.1073,0,-62.1439:45:25:20:745:867:25,20 0/1:-190.681,0,-150.631:135:60:74:2662:2203:60,74 . . . . . . . . . . . +chr5 37364443 . C T 5975.85 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=160;CIGAR=1X;DP=2441;DPB=161;DPRA=0;EPP=5.67035;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.7188;MQMR=0;NS=1;NUMALT=1;ODDS=226.412;PAIRED=0.9875;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6054;QR=0;RO=0;RPL=95;RPP=15.2248;RPPR=0;RPR=65;RUN=1;SAF=90;SAP=8.43898;SAR=70;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-519.979,-48.1648,0:161:0:160:6054:0:0,160 . . 1/1:-559.296,-51.7772,0:172:0:172:6505:0:0,172 . 1/1:-661.565,-60.8081,0:202:0:202:7656:0:0,202 1/1:-404.908,-37.6288,0:126:0:125:4702:0:0,125 . . 1/1:-472.481,-44.2514,0:149:0:147:5485:0:0,147 1/1:-565.156,-52.3792,0:174:0:174:6603:0:0,174 . 1/1:-774.105,-73.4513,0:244:0:244:9042:0:0,244 . . . 1/1:-730.304,-67.4307,0:224:0:224:8478:0:0,224 . . . 1/1:-748,-68.9359,0:229:0:229:8703:0:0,229 1/1:-311.988,-29.5009,0:98:0:98:3595:0:0,98 . . 1/1:-290.993,-27.0927,0:90:0:90:3388:0:0,90 1/1:-899.622,-86.0946,0:289:0:286:10546:0:0,286 . 1/1:-899.532,-85.1915,0:283:0:283:10503:0:0,283 . . . . . . . . . +chr5 155771579 . T C 7452.23 . AB=0.46395;ABP=6.61127;AC=13;AF=0.5;AN=20;AO=148;CIGAR=1X;DP=3617;DPB=319;DPRA=0;EPP=18.0345;EPPR=5.51388;GTI=0;LEN=1;MEANALT=2;MQM=41.9189;MQMR=41.9765;NS=1;NUMALT=1;ODDS=842.203;PAIRED=0.986486;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5445;QR=6445;RO=170;RPL=69;RPP=4.47751;RPPR=4.28764;RPR=79;RUN=1;SAF=87;SAP=12.9286;SAR=61;SF=0,3,5,6,9,10,20,21,24,25;SRF=90;SRP=4.28764;SRR=80;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-375.635,0,-460.559:319:170:148:5445:6445:170,148 . . 1/1:-1183.18,-111.682,0:372:0:371:13761:0:0,371 . 0/1:-730.46,0,-536.711:479:211:268:10118:7879:211,268 0/1:-371.917,0,-361.311:280:136:142:5313:5161:136,142 . . 0/1:-449.92,0,-419.369:331:158:173:6359:6014:158,173 0/1:-511.555,0,-480.419:380:184:195:7347:6897:184,195 . . . . . . . . . 1/1:-1521.82,-143.29,0:476:0:476:17719:0:0,476 0/1:-199.595,0,-257.403:180:98:81:2948:3597:98,81 . . 0/1:-295.673,0,-218.564:195:85:110:4089:3209:85,110 1/1:-1923.43,-177.85,0:605:1:601:22269:39:1,601 . . . . . . . . . . . +chr6 7542148 . CAT CAAT 319.79 . AB=0.6;ABP=4.31318;AC=2;AF=0.5;AN=4;AO=9;CIGAR=1M1I2M;DP=48;DPB=18;DPRA=0;EPP=3.25157;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=18.0585;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=299;QR=194;RO=6;RPL=3;RPP=5.18177;RPPR=8.80089;RPR=6;RUN=1;SAF=5;SAP=3.25157;SAR=4;SF=0,20;SRF=4;SRP=4.45795;SRR=2;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD 0/1:-22.0369,0,-12.822:15:6:9:299:194:6,9 . . . . . . . . . . . . . . . . . . . 0/1:-58.1461,0,-22.0993:33:10:23:778:363:10,23 . . . . . . . . . . . . . . . . +chr6 7542274 . T C 449.40 . AB=0.514706;ABP=3.13803;AC=2;AF=0.5;AN=4;AO=35;CIGAR=1X;DP=97;DPB=68;DPRA=0;EPP=3.56868;EPPR=4.65535;GTI=0;LEN=1;MEANALT=1;MQM=39.8857;MQMR=42;NS=1;NUMALT=1;ODDS=176.486;PAIRED=0.914286;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1228;QR=1210;RO=33;RPL=24;RPP=13.4954;RPPR=26.7649;RPR=11;RUN=1;SAF=16;SAP=3.56868;SAR=19;SF=12,21;SRF=18;SRP=3.60252;SRR=15;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-84.1947,0,-84.9177:68:33:35:1228:1210:33,35 . . . . . . . . 0/1:-19.9071,0,-46.3731:29:20:9:324:627:20,9 . . . . . . . . . . . . . . . +chr6 7563983 . T G 5812.78 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=154;CIGAR=1X;DP=2445;DPB=154;DPRA=0;EPP=4.42035;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7532;MQMR=0;NS=1;NUMALT=1;ODDS=218.095;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5727;QR=0;RO=0;RPL=61;RPP=17.4492;RPPR=0;RPR=93;RUN=1;SAF=89;SAP=11.1322;SAR=65;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-494.853,-46.3586,0:154:0:154:5727:0:0,154 . . 1/1:-586.138,-53.6731,0:186:1:183:6786:19:1,183 . 1/1:-725.678,-69.2369,0:230:0:230:8385:0:0,230 1/1:-507.916,-48.1648,0:160:0:160:5852:0:0,160 . . 1/1:-494.464,-46.6597,0:155:0:155:5706:0:0,155 1/1:-628.448,-59.6039,0:199:0:198:7295:0:0,198 . 1/1:-810.829,-74.3267,0:257:2:255:9412:32:2,255 . . . 1/1:-570.047,-53.8844,0:179:0:179:6580:0:0,179 . . . 1/1:-604.897,-58.0988,0:194:0:193:7035:0:0,193 1/1:-402.884,-38.8329,0:129:0:129:4659:0:0,129 . . 1/1:-300.415,-28.5979,0:95:0:95:3463:0:0,95 1/1:-896.532,-85.1915,0:283:0:283:10345:0:0,283 . 1/1:-675.155,-65.7321,0:224:1:223:7816:17:1,223 . . . . . . . . . +chr6 7565727 . A T 3828.31 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=155;CIGAR=1X;DP=310;DPB=310;DPRA=0;EPP=18.2666;EPPR=18.2666;GTI=0;LEN=1;MEANALT=1;MQM=41.9871;MQMR=42;NS=1;NUMALT=1;ODDS=881.5;PAIRED=1;PAIREDR=0.987097;PAO=0;PQA=0;PQR=0;PRO=0;QA=5628;QR=5730;RO=155;RPL=105;RPP=45.389;RPPR=58.614;RPR=50;RUN=1;SAF=80;SAP=3.36054;SAR=75;SF=0;SRF=76;SRP=3.13639;SRR=79;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-395.621,0,-403.717:310:155:155:5628:5730:155,155 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 7566745 . GAAAAAAAAAAACTTT GAAAAAAAAAACTTT 1821.44 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=83;CIGAR=1M1D14M;DP=166;DPB=161.25;DPRA=0;EPP=7.43173;EPPR=11.8491;GTI=0;LEN=1;MEANALT=6;MQM=41.5542;MQMR=41.7042;NS=1;NUMALT=1;ODDS=386.505;PAIRED=0.987952;PAIREDR=0.985915;PAO=0;PQA=0;PQR=0;PRO=0;QA=2770;QR=2598;RO=71;RPL=59;RPP=35.0591;RPPR=22.1254;RPR=24;RUN=1;SAF=24;SAP=35.0591;SAR=59;SF=27;SRF=21;SRP=28.7315;SRR=50;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs748813334;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0298;ExAC_nontcga_ALL=0.0181;ExAC_nontcga_AFR=0.0175;ExAC_nontcga_AMR=0.0245;ExAC_nontcga_EAS=0.0197;ExAC_nontcga_FIN=0.0122;ExAC_nontcga_NFE=0.0198;ExAC_nontcga_OTH=0.0049;ExAC_nontcga_SAS=0.0133;AF=0.0011;AF_popmax=0.0032;AF_male=0.0014;AF_female=0.0006;AF_raw=0.0016;AF_afr=0.0027;AF_sas=.;AF_amr=0.0032;AF_eas=0;AF_nfe=0.0003;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=0.0070;Kaviar_AF=0.0128394;Kaviar_AC=1985;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-194.782,0,-178.838:166:71:83:2770:2598:71,83 . . . . . . . . . +chr6 7572262 . A G 6388.08 . AB=0;ABP=0;AC=20;AF=1;AN=26;AO=292;CIGAR=1X;DP=3597;DPB=292;DPRA=0;EPP=113.696;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9384;MQMR=0;NS=1;NUMALT=1;ODDS=409.403;PAIRED=0.986301;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10663;QR=0;RO=0;RPL=201;RPP=92.9925;RPPR=0;RPR=91;RUN=1;SAF=108;SAP=45.9638;SAR=184;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-925.933,-87.9008,0:292:0:292:10663:0:0,292 . . 1/1:-715.955,-67.7318,0:225:0:225:8244:0:0,225 . 0/1:-393.23,0,-404.068:312:156:155:5608:5737:156,155 0/1:-262.904,0,-325.317:228:124:104:3814:4550:124,104 . . 1/1:-706.83,-68.3338,0:228:0:227:8151:0:0,227 0/1:-346.361,0,-374.485:280:143:136:4951:5299:143,136 . 1/1:-1154.64,-111.381,0:371:0:370:13300:0:0,370 . . . 1/1:-889.494,-84.5894,0:281:0:281:10285:0:0,281 . . . 0/1:-398.778,0,-415.242:319:161:157:5725:5888:161,157 0/1:-291.052,0,-99.1393:157:47:110:3882:1680:47,110 . . 0/1:-192.744,0,-190.37:149:73:75:2732:2705:73,75 1/1:-1230.84,-119.208,0:397:0:396:14203:0:0,396 . 1/1:-1115.23,-107.468,0:358:0:357:12853:0:0,357 . . . . . . . . . +chr6 7576527 . G A 1645.33 . AB=0;ABP=0;AC=20;AF=1;AN=26;AO=62;CIGAR=1X;DP=927;DPB=62;DPRA=0;EPP=19.9618;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=90.5554;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2331;QR=0;RO=0;RPL=11;RPP=59.0483;RPPR=0;RPR=51;RUN=1;SAF=31;SAP=3.0103;SAR=31;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-202.157,-18.6639,0:62:0:62:2331:0:0,62 . . 1/1:-173.537,-15.9546,0:54:0:53:2005:0:0,53 . 0/1:-118.42,0,-107.152:87:42:45:1665:1534:42,45 0/1:-60.1858,0,-88.1534:61:36:25:903:1220:36,25 . . 1/1:-127.945,-12.3422,0:41:0:41:1477:0:0,41 0/1:-75.4043,0,-68.9365:57:27:29:1063:986:27,29 . 1/1:-270.825,-25.5876,0:87:0:85:3143:0:0,85 . . . 1/1:-230.573,-21.3731,0:71:0:71:2696:0:0,71 . . . 0/1:-98.7451,0,-84.3443:70:33:37:1383:1210:33,37 0/1:-114.29,0,-30.0522:57:15:42:1512:539:15,42 . . 0/1:-45.9597,0,-52.7306:41:22:19:682:743:22,19 1/1:-412.431,-36.3825,0:133:1:132:4813:38:1,132 . 1/1:-333.477,-31.6082,0:106:0:105:3848:0:0,105 . . . . . . . . . +chr6 7577260 . C T 2235.84 . AB=0.50566;ABP=3.08405;AC=6;AF=0.5;AN=12;AO=134;CIGAR=1X;DP=1130;DPB=265;DPRA=0;EPP=19.6042;EPPR=18.94;GTI=0;LEN=1;MEANALT=1;MQM=41.7164;MQMR=41.8244;NS=1;NUMALT=1;ODDS=720.62;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5039;QR=4675;RO=131;RPL=39;RPP=53.8292;RPPR=46.1248;RPR=95;RUN=1;SAF=50;SAP=21.7433;SAR=84;SF=5,6,12,20,21,24;SRF=58;SRP=6.73993;SRR=73;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-353.996,0,-326.11:265:131:134:5039:4675:131,134 0/1:-188.816,0,-146.737:134:59:73:2641:2147:59,73 . . . . . 0/1:-420.169,0,-341.93:292:133:159:5870:4961:133,159 . . . . . . . 0/1:-194.317,0,-286.214:188:106:81:2903:3951:106,81 0/1:-120.366,0,-257.036:148:97:51:1900:3475:97,51 . . 0/1:-124.754,0,-140.123:103:54:49:1797:1980:54,49 . . . . . . . . . . . . +chr6 7578819 . TAGCG GAGCA 3894.28 . AB=0;ABP=0;AC=20;AF=1;AN=26;AO=175;CIGAR=1X3M1X;DP=2038;DPB=177.6;DPRA=0;EPP=62.0868;EPPR=0;GTI=0;LEN=5;MEANALT=2;MQM=41.7371;MQMR=0;NS=1;NUMALT=1;ODDS=249.286;PAIRED=0.988571;PAIREDR=0;PAO=3;PQA=116;PQR=0;PRO=0;QA=6501;QR=0;RO=0;RPL=97;RPP=7.48974;RPPR=0;RPR=78;RUN=1;SAF=82;SAP=4.51172;SAR=93;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=complex;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DSP;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=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\x3d99.050066,97.850793;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-570.943,-53.5833,0:177:0:175:6501:0:0,175 . . 1/1:-516.283,-48.1648,0:154:0:154:5730:0:0,154 . 0/1:-285.298,0,-222.93:194:89:102:3827:3237:89,102 0/1:-157.753,0,-173.788:126:67:59:2220:2432:67,59 . . 1/1:-358.134,-34.0164,0:110:0:109:4031:0:0,109 0/1:-215.798,0,-157.607:139:63:76:2840:2303:63,76 . 1/1:-615.249,-56.8947,0:186:0:186:7005:0:0,186 . . . 1/1:-478.239,-44.5524,0:147:0:147:5527:0:0,147 . . . 0/1:-168.202,0,-220.07:150:83:64:2403:3045:83,64 0/1:-229.396,0,-57.0632:110:29:80:2959:1037:29,80 . . 0/1:-85.2829,0,-106.655:74:40:34:1236:1479:40,34 1/1:-830.621,-78.2678,0:256:0:254:9358:0:0,254 . 1/1:-686.186,-64.7215,0:215:0:210:7745:0:0,210 . . . . . . . . . +chr6 7580243 . G C 4405.88 . AB=0.494709;ABP=3.10221;AC=1;AF=0.5;AN=2;AO=187;CIGAR=1X;DP=378;DPB=378;DPRA=0;EPP=9.15313;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=1014.49;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6585;QR=6952;RO=190;RPL=54;RPP=75.4817;RPPR=55.8571;RPR=133;RUN=1;SAF=64;SAP=43.4322;SAR=123;SF=0;SRF=64;SRP=46.9426;SRR=126;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DSP:NM_001319034:exon23:c.G3820C:p.A1274P,DSP:NM_004415:exon23:c.G3820C:p.A1274P;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.025;SIFT_converted_rankscore=0.473;SIFT_pred=D;Polyphen2_HDIV_score=0.988;Polyphen2_HDIV_rankscore=0.604;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.735;Polyphen2_HVAR_rankscore=0.536;Polyphen2_HVAR_pred=P;LRT_score=0.006;LRT_converted_rankscore=0.326;LRT_pred=N;MutationTaster_score=0.851;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.59;MutationAssessor_score_rankscore=0.404;MutationAssessor_pred=L;FATHMM_score=-2.96;FATHMM_converted_rankscore=0.920;FATHMM_pred=D;PROVEAN_score=-2.83;PROVEAN_converted_rankscore=0.597;PROVEAN_pred=D;VEST3_score=0.409;VEST3_rankscore=0.467;MetaSVM_score=0.356;MetaSVM_rankscore=0.884;MetaSVM_pred=D;MetaLR_score=0.682;MetaLR_rankscore=0.890;MetaLR_pred=D;M-CAP_score=0.116;M-CAP_rankscore=0.796;M-CAP_pred=D;REVEL_score=0.386;REVEL_rankscore=0.706;MutPred_score=0.272;MutPred_rankscore=0.223;CADD_raw=3.491;CADD_raw_rankscore=0.477;CADD_phred=23.1;DANN_score=0.995;DANN_rankscore=0.693;fathmm-MKL_coding_score=0.938;fathmm-MKL_coding_rankscore=0.590;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.406;Eigen-PC-raw=0.385;GenoCanyon_score=1.0;GenoCanyon_score_rankscore=0.983;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=5.17;GERP++_RS_rankscore=0.707;phyloP100way_vertebrate=4.072;phyloP100way_vertebrate_rankscore=0.570;phyloP20way_mammalian=1.048;phyloP20way_mammalian_rankscore=0.713;phastCons100way_vertebrate=0.739;phastCons100way_vertebrate_rankscore=0.288;phastCons20way_mammalian=0.980;phastCons20way_mammalian_rankscore=0.490;SiPhy_29way_logOdds=12.715;SiPhy_29way_logOdds_rankscore=0.563;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dENSR00000192808|Promoter,ENSR00000782355|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1934472|N/A|TAL1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.941095;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-459.823,0,-490.757:378:190:187:6585:6952:190,187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 7581196 . G A 4758.75 . AB=0.5;ABP=3.0103;AC=2;AF=0.5;AN=4;AO=124;CIGAR=1X;DP=742;DPB=248;DPRA=0;EPP=16.7396;EPPR=11.486;GTI=0;LEN=1;MEANALT=1;MQM=41.8548;MQMR=42;NS=1;NUMALT=1;ODDS=727.706;PAIRED=0.983871;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4607;QR=4621;RO=124;RPL=61;RPP=3.08035;RPPR=13.0971;RPR=63;RUN=1;SAF=69;SAP=6.44263;SAR=55;SF=24,27;SRF=59;SRP=3.64073;SRR=65;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-323.539,0,-324.726:248:124:124:4607:4621:124,124 . . 0/1:-647.873,0,-618.128:494:238:253:9183:8887:238,253 . . . . . . . . . +chr6 7581636 . G A 2340.50 . AB=0.450617;ABP=9.87323;AC=5;AF=0.5;AN=10;AO=146;CIGAR=1X;DP=1126;DPB=324;DPRA=0;EPP=6.81781;EPPR=10.0371;GTI=0;LEN=1;MEANALT=1;MQM=41.9726;MQMR=41.6854;NS=1;NUMALT=1;ODDS=833.225;PAIRED=1;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=5388;QR=6510;RO=178;RPL=79;RPP=5.15203;RPPR=3.79105;RPR=67;RUN=1;SAF=72;SAP=3.06979;SAR=74;SF=5,6,20,21,24;SRF=90;SRP=3.0591;SRR=88;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-370.045,0,-467.905:324:178:146:5388:6510:178,146 0/1:-216.955,0,-358.323:225:135:90:3274:4916:135,90 . . . . . . . . . . . . . 0/1:-290.933,0,-376.359:258:142:115:4246:5214:142,115 0/1:-96.1329,0,-312.144:161:115:46:1660:4135:115,46 . . 0/1:-241.021,0,-168.577:158:69:89:3325:2476:69,89 . . . . . . . . . . . . +chr6 7584611 . C T 2813.36 . AB=0.489451;ABP=3.23936;AC=1;AF=0.5;AN=2;AO=116;CIGAR=1X;DP=237;DPB=237;DPRA=0;EPP=36.0317;EPPR=61.317;GTI=0;LEN=1;MEANALT=1;MQM=41.8276;MQMR=41.7025;NS=1;NUMALT=1;ODDS=647.799;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4222;QR=4460;RO=121;RPL=74;RPP=22.1792;RPPR=74.2382;RPR=42;RUN=1;SAF=47;SAP=12.0706;SAR=69;SF=27;SRF=45;SRP=20.2565;SRR=76;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DSP:NM_001008844:exon24:c.C5319T:p.I1773I,DSP:NM_001319034:exon24:c.C5787T:p.I1929I,DSP:NM_004415:exon24:c.C7116T:p.I2372I;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs185213858;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_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=0.0002;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=6.371e-05;AF_popmax=0.0002;AF_male=5.724e-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=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\x3d99.934879;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-293.311,0,-314.262:237:121:116:4222:4460:121,116 . . . . . . . . . +chr6 7584617 . C T 3664.19 . AB=0.5125;ABP=3.22745;AC=12;AF=0.5;AN=20;AO=82;CIGAR=1X;DP=2255;DPB=160;DPRA=0;EPP=37.3302;EPPR=56.9074;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=428.709;PAIRED=1;PAIREDR=0.987179;PAO=0;PQA=0;PQR=0;PRO=0;QA=3006;QR=2889;RO=78;RPL=48;RPP=8.20065;RPPR=31.5178;RPR=34;RUN=1;SAF=33;SAP=9.78953;SAR=49;SF=0,3,6,9,12,16,20,21,25,27;SRF=26;SRP=21.8297;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-213.119,0,-202.972:160:78:82:3006:2889:78,82 . . 0/1:-287.105,0,-276.989:219:108:111:4072:3947:108,111 . . 0/1:-218.925,0,-192.035:161:76:85:3069:2762:76,85 . . 0/1:-233.042,0,-197.614:171:81:90:3269:2887:81,90 . . 0/1:-347.769,0,-336.129:274:134:139:4954:4840:134,139 . . . 1/1:-733.606,-68.9359,0:229:0:229:8452:0:0,229 . . . 0/1:-325.14,0,-406.434:288:157:130:4735:5679:157,130 0/1:-105.245,0,-264.787:149:99:50:1716:3558:99,50 . . . 1/1:-1094.27,-102.487,0:363:2:361:12706:74:2,361 . 0/1:-308.428,0,-285.982:241:118:123:4403:4133:118,123 . . . . . . . . . +chr6 7585670 . C A 7032.85 . AB=0.544012;ABP=14.6698;AC=5;AF=0.5;AN=10;AO=377;CIGAR=1X;DP=2831;DPB=693;DPRA=0;EPP=98.8604;EPPR=29.5935;GTI=0;LEN=1;MEANALT=2;MQM=41.9363;MQMR=41.586;NS=1;NUMALT=1;ODDS=1721.33;PAIRED=1;PAIREDR=0.984076;PAO=0;PQA=0;PQR=0;PRO=0;QA=13459;QR=11286;RO=314;RPL=216;RPP=20.4339;RPPR=64.1158;RPR=161;RUN=1;SAF=178;SAP=5.5504;SAR=199;SF=5,9,10,24,27;SRF=144;SRP=7.68519;SRR=170;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-959.63,0,-765.69:693:314:377:13459:11286:314,377 . . . 0/1:-636.34,0,-753.74:563:299:263:9285:10633:299,263 0/1:-590.935,0,-671.377:506:262:244:8552:9484:262,244 . . . . . . . . . . . . . 0/1:-518.142,0,-370.754:358:156:202:7200:5496:156,202 . . 0/1:-903.247,0,-807.795:711:341:367:12882:11752:341,367 . . . . . . . . . +chr6 7585967 . G C 7756.78 . AB=0;ABP=0;AC=19;AF=1;AN=26;AO=338;CIGAR=1X;DP=4537;DPB=339;DPRA=0;EPP=5.09183;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.9882;MQMR=42;NS=1;NUMALT=1;ODDS=462.747;PAIRED=0.985207;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=12015;QR=36;RO=1;RPL=194;RPP=19.0715;RPPR=5.18177;RPR=144;RUN=1;SAF=154;SAP=8.79233;SAR=184;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1043.19,-98.5465,0:339:1:338:12015:36:1,338 . . 1/1:-873.787,-85.1915,0:284:0:283:10055:0:0,283 . 0/1:-604.878,0,-456.537:426:187:237:8422:6706:187,237 0/1:-354.191,0,-353.524:284:143:141:5058:5036:143,141 . . 1/1:-930.755,-90.9401,0:306:1:305:10694:12:1,305 0/1:-384.051,0,-367.574:303:148:154:5492:5275:148,154 . 0/1:-597.942,0,-459.658:426:189:237:8345:6746:189,237 . . . 1/1:-1084.39,-105.361,0:351:0:350:12469:0:0,350 . . . 0/1:-426.796,0,-493.588:367:197:170:6200:6937:197,170 0/1:-441.821,0,-71.2209:208:44:164:5797:1528:44,164 . . 0/1:-207.589,0,-224.463:171:89:82:2974:3172:89,82 1/1:-1856.18,-182.123,0:608:0:605:21328:0:0,605 . 1/1:-1409.49,-139.678,0:464:0:464:16188:0:0,464 . . . . . . . . . +chr6 76545684 . T C 1912.11 . AB=0.436893;ABP=6.5732;AC=2;AF=0.5;AN=4;AO=45;CIGAR=1X;DP=303;DPB=103;DPRA=0;EPP=3.05855;EPPR=4.877;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=243.102;PAIRED=1;PAIREDR=0.982456;PAO=0;PQA=0;PQR=0;PRO=0;QA=1655;QR=2183;RO=57;RPL=22;RPP=3.05855;RPPR=3.35316;RPR=23;RUN=1;SAF=28;SAP=8.84915;SAR=17;SF=6,25;SRF=33;SRP=6.09608;SRR=24;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-112.353,0,-157.717:103:57:45:1655:2183:57,45 . . . . . . . . . . . . . . . . . . 0/1:-285.658,0,-240.71:200:92:108:3998:3486:92,108 . . . . . . . . . . . +chr6 76554593 . G A 3684.32 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=101;CIGAR=1X;DP=1517;DPB=101;DPRA=0;EPP=42.7633;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9802;MQMR=0;NS=1;NUMALT=1;ODDS=144.621;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3836;QR=0;RO=0;RPL=43;RPP=7.84774;RPPR=0;RPR=58;RUN=1;SAF=60;SAP=10.7717;SAR=41;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-331.272,-30.404,0:101:0:101:3836:0:0,101 . . 1/1:-349.701,-32.5112,0:108:0:108:4046:0:0,108 . 1/1:-341.206,-32.5112,0:108:0:108:3949:0:0,108 1/1:-259.668,-24.6845,0:82:0:82:2999:0:0,82 . . 1/1:-303.13,-27.9958,0:93:0:93:3505:0:0,93 1/1:-298.084,-27.9958,0:93:0:93:3446:0:0,93 . 1/1:-380.325,-35.8226,0:119:0:119:4445:0:0,119 . . . 1/1:-426.375,-40.037,0:133:0:133:4956:0:0,133 . . . 1/1:-493.096,-45.7566,0:152:0:152:5715:0:0,152 1/1:-298.349,-27.6948,0:93:0:92:3455:0:0,92 . . 1/1:-240.347,-21.9752,0:73:0:73:2777:0:0,73 1/1:-644.574,-60.206,0:200:0:200:7511:0:0,200 . 1/1:-529.218,-48.7669,0:162:0:162:6132:0:0,162 . . . . . . . . . +chr6 76558260 . ATTTTTTTAAG ATTTTTTTTAAG 1274.32 . AB=0.487805;ABP=3.11623;AC=3;AF=0.5;AN=6;AO=40;CIGAR=1M1I10M;DP=309;DPB=85.6364;DPRA=0;EPP=13.6505;EPPR=7.30028;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9512;NS=1;NUMALT=1;ODDS=219.885;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1471;QR=1508;RO=41;RPL=15;RPP=8.43898;RPPR=9.41879;RPR=25;RUN=1;SAF=16;SAP=6.48466;SAR=24;SF=0,5,10;SRF=20;SRP=3.06326;SRR=21;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD 0/1:-103.191,0,-106.544:82:41:40:1471:1508:41,40 . . . . 0/1:-155.009,0,-142.712:115:55:59:2186:2039:55,59 . . . . 0/1:-144.954,0,-126.919:112:49:55:2035:1820:49,55 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 76576290 . C T 1117.06 . AB=0.565789;ABP=5.8675;AC=1;AF=0.5;AN=2;AO=43;CIGAR=1X;DP=76;DPB=76;DPRA=0;EPP=3.0608;EPPR=3.60252;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.8788;NS=1;NUMALT=1;ODDS=176.523;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1632;QR=1236;RO=33;RPL=16;RPP=9.12072;RPPR=8.34028;RPR=27;RUN=1;SAF=18;SAP=5.48477;SAR=25;SF=3;SRF=15;SRP=3.60252;SRR=18;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-118.632,0,-83.206:76:33:43:1632:1236:33,43 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 76596728 . C T 1337.11 . AB=0.479452;ABP=3.27802;AC=14;AF=0.5;AN=22;AO=35;CIGAR=1X;DP=884;DPB=73;DPRA=0;EPP=55.1877;EPPR=41.6397;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=187.45;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1331;QR=1348;RO=38;RPL=19;RPP=3.56868;RPPR=3.9246;RPR=16;RUN=1;SAF=16;SAP=3.56868;SAR=19;SF=0,3,5,9,10,12,16,20,24,25,27;SRF=15;SRP=6.66752;SRR=23;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-93.0413,0,-95.3643:73:38:35:1331:1348:38,35 . . 0/1:-53.7064,0,-69.4613:48:27:21:786:961:27,21 . 0/1:-74.6736,0,-138.389:82:51:31:1147:1882:51,31 . . . 1/1:-183.395,-16.8577,0:56:0:56:2140:0:0,56 0/1:-128.819,0,-33.0678:61:16:45:1702:596:16,45 . 1/1:-375.732,-34.3174,0:115:0:114:4354:0:0,114 . . . 0/1:-97.6722,0,-141.3:88:51:37:1440:1935:51,37 . . . 1/1:-241.054,-21.9752,0:73:0:73:2793:0:0,73 . . . 0/1:-45.1478,0,-40.3992:33:16:17:634:575:16,17 0/1:-204.344,0,-195.886:152:76:76:2896:2785:76,76 . 0/1:-87.504,0,-176.095:103:66:37:1383:2379:66,37 . . . . . . . . . +chr6 76608128 . G C 1724.80 . AB=0.663366;ABP=26.4235;AC=1;AF=0.5;AN=2;AO=67;CIGAR=1X;DP=101;DPB=101;DPRA=0;EPP=4.59839;EPPR=7.09778;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=152.822;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2434;QR=1218;RO=34;RPL=37;RPP=4.59839;RPPR=9.39698;RPR=30;RUN=1;SAF=35;SAP=3.30199;SAR=32;SF=3;SRF=15;SRP=4.03217;SRR=19;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=MYO6;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=MYO6:NM_004999:exon30:c.G3176C:p.R1059T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs202214380;CLNALLELEID=54320;CLNDN=Infertility|Male_infertility|not_specified;CLNDISDB=Human_Phenotype_Ontology:HP:0000789,MedGen:C0021359|Human_Phenotype_Ontology:HP:0003251,MedGen:C0021364,Orphanet:ORPHA98048,SNOMED_CT:2904007|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Uncertain_significance;SIFT_score=0.02;SIFT_converted_rankscore=0.555;SIFT_pred=D;Polyphen2_HDIV_score=0.188;Polyphen2_HDIV_rankscore=0.276;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.159;Polyphen2_HVAR_rankscore=0.330;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=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=-2.52;FATHMM_converted_rankscore=0.894;FATHMM_pred=D;PROVEAN_score=-1.01;PROVEAN_converted_rankscore=0.266;PROVEAN_pred=N;VEST3_score=0.695;VEST3_rankscore=0.738;MetaSVM_score=-0.144;MetaSVM_rankscore=0.791;MetaSVM_pred=T;MetaLR_score=0.496;MetaLR_rankscore=0.809;MetaLR_pred=T;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=0.265;REVEL_rankscore=0.583;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.861;CADD_raw_rankscore=0.405;CADD_phred=21.7;DANN_score=0.976;DANN_rankscore=0.346;fathmm-MKL_coding_score=0.995;fathmm-MKL_coding_rankscore=0.965;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.242;Eigen-PC-raw=0.419;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=5.81;GERP++_RS_rankscore=0.924;phyloP100way_vertebrate=8.954;phyloP100way_vertebrate_rankscore=0.929;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=20.086;SiPhy_29way_logOdds_rankscore=0.978;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=1.0;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=0.0003;ExAC_nontcga_OTH=0.0014;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;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=0.0018;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;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\x3d99.580847;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-181.322,0,-75.5613:101:34:67:2434:1218:34,67 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 76624741 . C T 5699.10 . AB=0.543807;ABP=8.52755;AC=14;AF=0.5;AN=22;AO=180;CIGAR=1X;DP=3532;DPB=331;DPRA=0;EPP=24.2907;EPPR=32.131;GTI=0;LEN=1;MEANALT=1;MQM=41.9778;MQMR=42;NS=1;NUMALT=1;ODDS=851.221;PAIRED=1;PAIREDR=0.980132;PAO=0;PQA=0;PQR=0;PRO=0;QA=6669;QR=5658;RO=151;RPL=156;RPP=213.209;RPPR=88.2729;RPR=24;RUN=1;SAF=57;SAP=55.5599;SAR=123;SF=0,3,5,9,10,12,16,20,24,25,27;SRF=58;SRP=20.6265;SRR=93;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-477.813,0,-390.732:331:151:180:6669:5658:151,180 . . 0/1:-425.185,0,-352.254:300:138:162:5956:5106:138,162 . 0/1:-440.022,0,-441.398:343:173:170:6279:6310:173,170 . . . 1/1:-624.311,-59.905,0:199:0:199:7230:0:0,199 0/1:-373.941,0,-289.941:263:117:145:5247:4284:117,145 . 1/1:-1420.26,-132.757,0:450:2:448:16512:29:2,448 . . . 0/1:-387.31,0,-394.042:297:150:147:5515:5573:150,147 . . . 1/1:-1285.47,-110.034,0:410:5:403:15035:146:5,403 . . . 0/1:-210.591,0,-193.166:156:76:80:2971:2769:76,80 0/1:-598.905,0,-548.533:450:215:234:8540:7900:215,234 . 0/1:-392.921,0,-462.639:333:178:155:5685:6529:178,155 . . . . . . . . . +chr6 112435264 . T G 1379.13 . AB=0.463918;ABP=4.10723;AC=4;AF=0.5;AN=6;AO=45;CIGAR=1X;DP=279;DPB=97;DPRA=0;EPP=33.1696;EPPR=40.5935;GTI=0;LEN=1;MEANALT=1;MQM=41.9556;MQMR=42;NS=1;NUMALT=1;ODDS=244.656;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1703;QR=1995;RO=52;RPL=11;RPP=28.5372;RPPR=7.18621;RPR=34;RUN=1;SAF=21;SAP=3.44459;SAR=24;SF=0,10,21;SRF=26;SRP=3.0103;SRR=26;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-118.006,0,-143.283:97:52:45:1703:1995:52,45 . . . . . . . . . 1/1:-300.342,-25.1753,0:96:1:95:3538:39:1,95 . . . . . . . . . . 0/1:-33.323,0,-189.208:86:67:19:681:2488:67,19 . . . . . . . . . . . . . . . +chr6 112435273 . A C 1638.44 . AB=0.456897;ABP=4.88226;AC=4;AF=0.5;AN=6;AO=53;CIGAR=1X;DP=334;DPB=116;DPRA=0;EPP=17.8009;EPPR=40.5458;GTI=0;LEN=1;MEANALT=1;MQM=41.9623;MQMR=42;NS=1;NUMALT=1;ODDS=257.005;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1799;QR=2313;RO=63;RPL=14;RPP=28.6173;RPPR=21.2438;RPR=39;RUN=1;SAF=25;SAP=3.37904;SAR=28;SF=0,10,21;SRF=29;SRP=3.872;SRR=34;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-121.95,0,-166.066:116:63:53:1799:2313:63,53 . . . . . . . . . 1/1:-372.821,-33.0712,0:122:1:121:4354:38:1,121 . . . . . . . . . . 0/1:-30.1552,0,-206.862:96:76:19:675:2709:76,19 . . . . . . . . . . . . . . . +chr6 112435912 . A T 3810.01 . AB=0.555102;ABP=9.47154;AC=4;AF=0.5;AN=6;AO=136;CIGAR=1X;DP=628;DPB=245;DPRA=0;EPP=7.09778;EPPR=15.4614;GTI=0;LEN=1;MEANALT=1;MQM=41.9559;MQMR=41.7982;NS=1;NUMALT=1;ODDS=598.024;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4997;QR=3964;RO=109;RPL=45;RPP=36.7959;RPPR=5.42083;RPR=91;RUN=1;SAF=79;SAP=10.7382;SAR=57;SF=0,10,21;SRF=68;SRP=17.5333;SRR=41;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-360.502,0,-269.948:245:109:136:4997:3964:109,136 . . . . . . . . . 1/1:-773.648,-73.1503,0:243:0:243:8920:0:0,243 . . . . . . . . . . 0/1:-43.7764,0,-315.249:140:113:27:982:4130:113,27 . . . . . . . . . . . . . . . +chr6 112440464 . G A 423.74 . AB=0.232258;ABP=99.5217;AC=1;AF=0.5;AN=2;AO=36;CIGAR=1X;DP=155;DPB=155;DPRA=0;EPP=22.5536;EPPR=33.6846;GTI=0;LEN=1;MEANALT=1;MQM=41.8889;MQMR=41.8235;NS=1;NUMALT=1;ODDS=97.57;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1234;QR=4249;RO=119;RPL=22;RPP=6.8707;RPPR=25.3637;RPR=14;RUN=1;SAF=17;SAP=3.25157;SAR=19;SF=21;SRF=50;SRP=9.59771;SRR=69;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-60.694,0,-322.958:155:119:36:1234:4249:119,36 . . . . . . . . . . . . . . . +chr6 112457383 . G C 1187.11 . AB=0.583333;ABP=10.9724;AC=3;AF=0.5;AN=6;AO=77;CIGAR=1X;DP=332;DPB=132;DPRA=0;EPP=3.0385;EPPR=7.78754;GTI=0;LEN=1;MEANALT=1;MQM=41.2987;MQMR=42;NS=1;NUMALT=1;ODDS=299.424;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2829;QR=2041;RO=55;RPL=39;RPP=3.0385;RPPR=3.04978;RPR=38;RUN=1;SAF=38;SAP=3.0385;SAR=39;SF=0,10,21;SRF=26;SRP=3.36563;SRR=29;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-203.982,0,-137.413:132:55:77:2829:2041:55,77 . . . . . . . . . 0/1:-138.927,0,-150.734:117:60:55:2020:2136:60,55 . . . . . . . . . . 0/1:-38.324,0,-165.725:83:63:20:722:2185:63,20 . . . . . . . . . . . . . . . +chr6 112457390 . C T 3818.68 . AB=0;ABP=0;AC=23;AF=1;AN=24;AO=133;CIGAR=1X;DP=1499;DPB=133;DPRA=0;EPP=11.6472;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.594;MQMR=0;NS=1;NUMALT=1;ODDS=188.982;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5015;QR=0;RO=0;RPL=69;RPP=3.41847;RPPR=0;RPR=64;RUN=1;SAF=65;SAP=3.15724;SAR=68;SF=0,3,5,6,9,10,12,16,20,21,24,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-430.799,-40.037,0:133:0:133:5015:0:0,133 . . 1/1:-397.111,-34.2062,0:126:1:125:4631:39:1,125 . 1/1:-456.261,-42.7463,0:142:0:142:5280:0:0,142 0/1:-123.752,0,-114.431:91:44:47:1740:1630:44,47 . . 1/1:-266.283,-24.6845,0:82:0:82:3078:0:0,82 1/1:-359.254,-33.7154,0:112:0:112:4180:0:0,112 . 1/1:-520.657,-48.4658,0:161:0:161:6033:0:0,161 . . . 1/1:-503.765,-46.3586,0:154:0:154:5830:0:0,154 . . . 1/1:-488.199,-45.4555,0:151:0:151:5662:0:0,151 1/1:-276.796,-25.0913,0:88:1:87:3210:14:1,87 . . 1/1:-268.618,-25.2865,0:84:0:84:3106:0:0,84 . . 1/1:-543.775,-51.0819,0:175:1:174:6316:16:1,174 . . . . . . . . . +chr6 112457471 . G A 2081.87 . AB=0;ABP=0;AC=23;AF=1;AN=24;AO=68;CIGAR=1X;DP=844;DPB=68;DPRA=0;EPP=21.4039;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7941;MQMR=0;NS=1;NUMALT=1;ODDS=98.8732;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2543;QR=0;RO=0;RPL=50;RPP=35.7101;RPPR=0;RPR=18;RUN=1;SAF=28;SAP=7.60871;SAR=40;SF=0,3,5,6,9,10,12,16,20,21,24,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-219.619,-20.47,0:68:0:68:2543:0:0,68 . . 1/1:-187.882,-14.6392,0:61:1:60:2209:39:1,60 . 1/1:-200.047,-18.6639,0:62:0:62:2328:0:0,62 0/1:-93.8146,0,-72.6182:63:28:35:1302:1058:28,35 . . 1/1:-149.023,-13.8474,0:46:0:46:1724:0:0,46 1/1:-173.923,-16.2556,0:54:0:54:2009:0:0,54 . 1/1:-291.259,-27.0927,0:90:0:90:3382:0:0,90 . . . 1/1:-336.78,-31.0061,0:103:0:103:3901:0:0,103 . . . 1/1:-250.772,-23.4803,0:78:0:78:2897:0:0,78 1/1:-196.059,-18.3628,0:61:0:61:2264:0:0,61 . . 1/1:-191.945,-17.7608,0:59:0:59:2221:0:0,59 . . 1/1:-313.62,-29.802,0:99:0:99:3635:0:0,99 . . . . . . . . . +chr6 112471688 . G C 1851.08 . AB=0.450704;ABP=6.00754;AC=5;AF=0.5;AN=8;AO=64;CIGAR=1X;DP=452;DPB=142;DPRA=0;EPP=4.23175;EPPR=3.45573;GTI=0;LEN=1;MEANALT=1;MQM=41.7031;MQMR=42;NS=1;NUMALT=1;ODDS=337.878;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2434;QR=2938;RO=78;RPL=3;RPP=117.148;RPPR=110.025;RPR=61;RUN=1;SAF=38;SAP=7.89611;SAR=26;SF=0,6,10,21;SRF=47;SRP=10.1372;SRR=31;TYPE=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=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:GL:DP:RO:AO:QA:QR:AD 0/1:-167.468,0,-211.29:142:78:64:2434:2938:78,64 . . . . . 1/1:-376.323,-34.9195,0:116:0:116:4355:0:0,116 . . . 0/1:-181.567,0,-128.681:116:50:66:2505:1888:50,66 . . . . . . . . . . 0/1:-87.7913,0,-112.369:78:43:35:1279:1576:43,35 . . . . . . . . . . . . . . . +chr6 112480041 . A G 2074.94 . AB=0.545455;ABP=5.77399;AC=1;AF=0.5;AN=2;AO=84;CIGAR=1X;DP=154;DPB=154;DPRA=0;EPP=4.66476;EPPR=3.50664;GTI=0;LEN=1;MEANALT=1;MQM=41.75;MQMR=41.7286;NS=1;NUMALT=1;ODDS=389.853;PAIRED=0.988095;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3041;QR=2614;RO=70;RPL=49;RPP=8.07707;RPPR=20.8784;RPR=35;RUN=1;SAF=55;SAP=20.4855;SAR=29;SF=12;SRF=48;SRP=23.9805;SRR=22;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-216.568,0,-179.807:154:70:84:3041:2614:70,84 . . . . . . . . . . . . . . . . . . . . . . . . +chr6 112493872 . A G 12525.43 . AB=0;ABP=0;AC=19;AF=1;AN=24;AO=535;CIGAR=1X;DP=6273;DPB=535;DPRA=0;EPP=28.3414;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9065;MQMR=0;NS=1;NUMALT=1;ODDS=746.273;PAIRED=0.996262;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=19995;QR=0;RO=0;RPL=168;RPP=163.744;RPPR=0;RPR=367;RUN=1;SAF=280;SAP=5.54707;SAR=255;SF=0,3,5,6,9,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1726.75,-161.051,0:535:0:535:19995:0:0,535 . . 0/1:-700.761,0,-597.205:499:235:264:9863:8642:235,264 . 1/1:-2220.79,-207.711,0:692:0:690:25754:0:0,690 1/1:-1361.25,-125.831,0:419:0:418:15765:0:0,418 . . 1/1:-1295.05,-121.616,0:404:0:404:15038:0:0,404 . . 0/1:-1101.59,0,-1056.61:825:403:419:15661:15132:403,419 . . . 0/1:-675.145,0,-637.105:498:243:254:9567:9122:243,254 . . . 0/1:-683.565,0,-843.038:583:317:266:9967:11813:317,266 0/1:-485.403,0,-106.611:233:57:176:6410:2052:57,176 . . 1/1:-702.171,-65.9256,0:219:0:219:8133:0:0,219 1/1:-2392.68,-226.375,0:753:0:752:27651:0:0,752 . 1/1:-1948.19,-183.929,0:613:0:611:22523:0:0,611 . . . . . . . . . +chr6 112496511 . C A 1450.59 . AB=0.54918;ABP=5.57335;AC=3;AF=0.5;AN=6;AO=67;CIGAR=1X;DP=463;DPB=122;DPRA=0;EPP=3.30199;EPPR=3.04978;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9636;NS=1;NUMALT=1;ODDS=294.023;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2511;QR=2022;RO=55;RPL=14;RPP=52.306;RPPR=40.9518;RPR=53;RUN=1;SAF=47;SAP=26.6372;SAR=20;SF=9,21,27;SRF=34;SRP=9.68264;SRR=21;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-180.936,0,-138.61:122:55:67:2511:2022:55,67 . . . . . . . . . . . 0/1:-55.1209,0,-230.973:111:83:28:1029:3048:83,28 . . . . . 0/1:-243.866,0,-343.283:230:130:100:3610:4772:130,100 . . . . . . . . . +chr6 112496690 . G C 436.27 . AB=0.269231;ABP=51.1168;AC=1;AF=0.5;AN=2;AO=28;CIGAR=1X;DP=104;DPB=104;DPRA=0;EPP=7.97367;EPPR=19.4678;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.5132;NS=1;NUMALT=1;ODDS=100.454;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1007;QR=2842;RO=76;RPL=21;RPP=18.2106;RPPR=32.268;RPR=7;RUN=1;SAF=11;SAP=5.80219;SAR=17;SF=21;SRF=28;SRP=14.4391;SRR=48;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-56.4439,0,-212.475:104:76:28:1007:2842:76,28 . . . . . . . . . . . . . . . +chr6 112506583 . G T 3837.76 . AB=0;ABP=0;AC=20;AF=1;AN=24;AO=167;CIGAR=1X;DP=1812;DPB=167;DPRA=0;EPP=9.8888;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8683;MQMR=0;NS=1;NUMALT=1;ODDS=236.116;PAIRED=0.994012;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6327;QR=0;RO=0;RPL=124;RPP=88.3219;RPPR=0;RPR=43;RUN=1;SAF=52;SAP=54.6185;SAR=115;SF=0,3,5,6,9,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-546.268,-50.272,0:167:0:167:6327:0:0,167 . . 0/1:-147.905,0,-124.533:104:49:55:2070:1795:49,55 . 1/1:-533.957,-49.3689,0:164:0:164:6185:0:0,164 1/1:-370.031,-34.0164,0:113:0:113:4282:0:0,113 . . 1/1:-309.131,-28.2968,0:94:0:94:3592:0:0,94 . . 0/1:-216.083,0,-227.415:170:87:83:3086:3222:87,83 . . . 0/1:-233.589,0,-160.221:151:64:87:3245:2378:64,87 . . . 0/1:-192.715,0,-180.836:142:69:73:2722:2584:69,73 1/1:-325.906,-30.404,0:101:0:101:3762:0:0,101 . . 1/1:-273.934,-25.2865,0:84:0:84:3167:0:0,84 1/1:-808.036,-76.4616,0:255:0:254:9346:0:0,254 . 1/1:-863.575,-80.375,0:267:0:267:10033:0:0,267 . . . . . . . . . +chr6 112508769 . TG GT 7600.18 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=224;CIGAR=2X;DP=3237;DPB=228;DPRA=0;EPP=3.04908;EPPR=0;GTI=0;LEN=2;MEANALT=5;MQM=41.6295;MQMR=0;NS=1;NUMALT=1;ODDS=315.135;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7973;QR=0;RO=0;RPL=144;RPP=42.7172;RPPR=0;RPR=80;RUN=1;SAF=125;SAP=9.56349;SAR=99;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=mnp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMA4;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=LAMA4:NM_001105206:exon8:c.848_849AC,LAMA4:NM_001105207:exon8:c.827_828AC,LAMA4:NM_002290:exon8:c.827_828AC;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71543223;CLNALLELEID=178204;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.037354;Kaviar_AC=5775;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:GL:DP:RO:AO:QA:QR:AD 1/1:-692.209,-67.4307,0:228:0:224:7973:0:0,224 . . 1/1:-762.015,-73.1503,0:242:0:241:8708:0:0,241 . 1/1:-888.408,-86.0946,0:288:0:283:10149:0:0,283 1/1:-516.779,-49.971,0:166:0:166:5936:0:0,166 . . 1/1:-624.654,-60.507,0:203:0:201:7252:0:0,201 1/1:-682.556,-66.8287,0:226:0:221:7907:0:0,221 . 1/1:-1053.36,-100.845,0:336:0:333:12116:0:0,333 . . . 1/1:-824.368,-78.8699,0:260:0:259:9402:0:0,259 . . . 1/1:-995.87,-95.1255,0:314:0:311:11331:0:0,311 1/1:-430.605,-43.6494,0:142:0:142:4824:0:0,142 . . 1/1:-429.49,-41.8432,0:140:0:138:4977:0:0,138 1/1:-1234.39,-120.111,0:408:0:398:14181:0:0,398 . 1/1:-842.911,-83.6863,0:284:0:278:9690:0:0,278 . . . . . . . . . +chr6 112512905 . G A 2919.27 . AB=0.534884;ABP=5.28277;AC=3;AF=0.5;AN=6;AO=115;CIGAR=1X;DP=838;DPB=215;DPRA=0;EPP=3.93554;EPPR=8.56927;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.81;NS=1;NUMALT=1;ODDS=561.448;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4335;QR=3704;RO=100;RPL=41;RPP=23.5732;RPPR=53.041;RPR=74;RUN=1;SAF=74;SAP=23.5732;SAR=41;SF=9,21,27;SRF=60;SRP=11.6962;SRR=40;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-309.959,0,-257.2:215:100:115:4335:3704:100,115 . . . . . . . . . . . 0/1:-64.9102,0,-427.869:194:154:40:1420:5587:154,40 . . . . . 0/1:-548.926,0,-564.663:429:218:210:7856:7993:218,210 . . . . . . . . . +chr6 112522852 . G A 3545.88 . AB=0.52381;ABP=4.25114;AC=5;AF=0.5;AN=10;AO=132;CIGAR=1X;DP=1391;DPB=252;DPRA=0;EPP=34.8586;EPPR=21.5402;GTI=0;LEN=1;MEANALT=1;MQM=41.8258;MQMR=42;NS=1;NUMALT=1;ODDS=680.95;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4997;QR=4377;RO=120;RPL=64;RPP=3.27351;RPPR=3.0103;RPR=68;RUN=1;SAF=64;SAP=3.27351;SAR=68;SF=0,3,5,12,27;SRF=60;SRP=3.0103;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-354.396,0,-304.431:252:120:132:4997:4377:120,132 . . 0/1:-244.293,0,-288.878:206:110:96:3542:4048:110,96 . 0/1:-330.291,0,-283.717:235:112:123:4639:4101:112,123 . . . . . . 0/1:-414.061,0,-467.893:340:179:161:5999:6579:179,161 . . . . . . . . . . . . . . 0/1:-489.991,0,-424.524:358:174:184:6920:6117:174,184 . . . . . . . . . +chr6 112522893 . A C 2378.25 . AB=0.482517;ABP=3.38993;AC=2;AF=0.5;AN=4;AO=69;CIGAR=1X;DP=402;DPB=143;DPRA=0;EPP=14.3712;EPPR=7.23587;GTI=0;LEN=1;MEANALT=1;MQM=41.7246;MQMR=41.973;NS=1;NUMALT=1;ODDS=401.333;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2624;QR=2802;RO=74;RPL=39;RPP=5.55942;RPPR=3.0103;RPR=30;RUN=1;SAF=24;SAP=16.8888;SAR=45;SF=9,27;SRF=20;SRP=36.9322;SRR=54;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-183.343,0,-199.037:143:74:69:2624:2802:74,69 . . . . . . . . . . . . . . . . . 0/1:-312.382,0,-372.219:259:139:120:4529:5215:139,120 . . . . . . . . . +chr6 112537682 . A G 9290.99 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=316;CIGAR=1X;DP=316;DPB=316;DPRA=0;EPP=206.304;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8133;MQMR=0;NS=1;NUMALT=1;ODDS=440.595;PAIRED=0.996835;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=11097;QR=0;RO=0;RPL=184;RPP=21.5915;RPPR=0;RPR=132;RUN=1;SAF=214;SAP=89.2095;SAR=102;SF=27;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-965.185,-95.1255,0:316:0:316:11097:0:0,316 . . . . . . . . . +chr6 123539904 . C T 5080.54 . AB=0.526971;ABP=4.53303;AC=13;AF=0.5;AN=20;AO=127;CIGAR=1X;DP=2891;DPB=241;DPRA=0;EPP=5.07918;EPPR=9.18185;GTI=0;LEN=1;MEANALT=1;MQM=41.9843;MQMR=41.6667;NS=1;NUMALT=1;ODDS=610.233;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4755;QR=4162;RO=114;RPL=107;RPP=132.427;RPPR=131.089;RPR=20;RUN=1;SAF=49;SAP=17.3899;SAR=78;SF=0,3,5,10,12,16,20,21,24,25;SRF=50;SRP=6.74371;SRR=64;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-339.016,0,-286.909:241:114:127:4755:4162:114,127 . . 0/1:-407.661,0,-389.093:304:149:153:5772:5584:149,153 . 1/1:-811.485,-73.3401,0:256:1:255:9425:39:1,255 . . . . 0/1:-469.447,0,-357.973:314:141:173:6528:5235:141,173 . 0/1:-519.33,0,-467.416:372:178:194:7308:6712:178,194 . . . 0/1:-316.687,0,-587.098:345:213:132:4869:8013:213,132 . . . 0/1:-438.398,0,-441.705:337:169:168:6298:6316:169,168 0/1:-143.134,0,-200.855:132:76:56:2113:2773:76,56 . . 1/1:-543.148,-49.67,0:165:0:165:6290:0:0,165 1/1:-1364.31,-126.339,0:425:1:424:15798:16:1,424 . . . . . . . . . . . +chr6 123581789 . GAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG GAAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG,AAAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG,GAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG 139.11 . AB=0.214286;ABP=22.8638;AC=14,4,1;AF=0.5;AN=26;AO=6;CIGAR=1M1I32M;DP=576;DPB=28.3939;DPRA=0;EPP=16.0391;EPPR=10.7656;GTI=0;LEN=1;MEANALT=16;MQM=39;MQMR=42;NS=1;NUMALT=1;ODDS=3.72788;PAIRED=1;PAIREDR=0.714286;PAO=0.5;PQA=9;PQR=9;PRO=0.5;QA=135;QR=251;RO=7;RPL=2;RPP=4.45795;RPPR=3.32051;RPR=4;RUN=1;SAF=2;SAP=4.45795;SAR=4;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=2;SRP=5.80219;SRR=5;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;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=0.4281;ExAC_nontcga_AFR=0.4517;ExAC_nontcga_AMR=0.4583;ExAC_nontcga_EAS=0.4954;ExAC_nontcga_FIN=0.3984;ExAC_nontcga_NFE=0.4225;ExAC_nontcga_OTH=0.4420;ExAC_nontcga_SAS=0.4305;AF=0.7794;AF_popmax=0.8680;AF_male=0.7802;AF_female=0.7783;AF_raw=0.6982;AF_afr=0.8314;AF_sas=.;AF_amr=0.8166;AF_eas=0.8680;AF_nfe=0.7399;AF_fin=0.5630;AF_asj=0.7723;AF_oth=0.7711;non_topmed_AF_popmax=0.8653;non_neuro_AF_popmax=0.8680;non_cancer_AF_popmax=.;controls_AF_popmax=0.8814;Kaviar_AF=0.0018758;Kaviar_AC=290;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.927297;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;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\x3d98.927297;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs776308264;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.0179;ExAC_nontcga_AFR=0.0086;ExAC_nontcga_AMR=0.0156;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0074;ExAC_nontcga_NFE=0.0195;ExAC_nontcga_OTH=0.0145;ExAC_nontcga_SAS=0.0215;AF=0.0016;AF_popmax=0.0059;AF_male=0.0019;AF_female=0.0013;AF_raw=0.0026;AF_afr=0.0022;AF_sas=.;AF_amr=0.0059;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0118;AF_asj=0.0045;AF_oth=0.0037;non_topmed_AF_popmax=0.0065;non_neuro_AF_popmax=0.0032;non_cancer_AF_popmax=.;controls_AF_popmax=0.0011;Kaviar_AF=0.0032406;Kaviar_AC=501;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.927297;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-7.36423,0,-17.4721,.,.,.,.,.,.,.:28:7:6,.,.:135,.,.:251:7,6 . . 2/2:-17.2847,.,.,-4.06,.,0,.,.,.,.:29:2:.,2,.:.,50,.:73:2,2 . 0/1:-19.0684,0,-15.1103,.,.,.,.,.,.,.:47:8:13,.,.:317,.,.:271:8,13 2/1:-10.6655,-3.984,-3.71938,-6.3488,0,-5.94477,.,.,.,.:20:1:3,2,.:103,48,.:37:1,2,3 . . 1/1:-19.7151,-5.11751,0,.,.,.,.,.,.,.:18:0:9,.,.:222,.,.:0:0,9 0/1:-14.2879,0,-2.20155,.,.,.,.,.,.,.:42:3:10,.,.:237,.,.:100:3,10 . 0/3:-15.9294,.,.,.,.,.,0,.,.,-59.0991:86:24:.,.,11:.,.,322:826:24,11 . . . 1/1:-32.692,-1.83064,0,.,.,.,.,.,.,.:37:2:18,.,.:438,.,.:68:2,18 . . . 0/1:-19.2028,0,-13.5363,.,.,.,.,.,.,.:43:7:12,.,.:309,.,.:247:7,12 2/1:-41.4462,-6.88501,-18.0799,-19.7552,0,-32.3781,.,.,.,.:49:6:18,10,.:482,246,.:218:6,10,18 . . 1/1:-18.1525,-3.61236,0,.,.,.,.,.,.,.:12:0:8,.,.:205,.,.:0:0,8 0/1:-12.2922,0,-60.6411,.,.,.,.,.,.,.:82:26:12,.,.:309,.,.:886:26,12 . 0/1:-19.845,0,-32.7294,.,.,.,.,.,.,.:83:17:15,.,.:418,.,.:570:17,15 . . . . . . . . . +chr6 123594181 . T G 80.05 . AB=0.571429;ABP=3.32051;AC=1;AF=0.5;AN=2;AO=4;CIGAR=1X;DP=7;DPB=7;DPRA=0;EPP=11.6962;EPPR=3.73412;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=11.2606;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=156;QR=116;RO=3;RPL=2;RPP=3.0103;RPPR=9.52472;RPR=2;RUN=1;SAF=2;SAP=3.0103;SAR=2;SF=24;SRF=2;SRP=3.73412;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;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\x3d98.981297;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-11.67,0,-8.25433:7:3:4:156:116:3,4 . . . . . . . . . . . . +chr6 123595869 . A C 625.41 . AB=0.492063;ABP=3.04477;AC=2;AF=0.5;AN=4;AO=31;CIGAR=1X;DP=150;DPB=63;DPRA=0;EPP=11.486;EPPR=16.3106;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=170.185;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1159;QR=1199;RO=32;RPL=17;RPP=3.64073;RPPR=7.35324;RPR=14;RUN=1;SAF=9;SAP=14.8483;SAR=22;SF=10,21;SRF=13;SRP=5.45321;SRR=19;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-81.5343,0,-84.9534:63:32:31:1159:1199:32,31 . . . . . . . . . . 0/1:-60.6761,0,-166.741:87:60:27:999:2260:60,27 . . . . . . . . . . . . . . . +chr6 123658825 . G T 666.15 . AB=0.216216;ABP=28.8919;AC=2;AF=0.5;AN=4;AO=8;CIGAR=1X;DP=123;DPB=37;DPRA=0;EPP=3.0103;EPPR=9.07545;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.931;NS=1;NUMALT=1;ODDS=17.1322;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=307;QR=1046;RO=29;RPL=7;RPP=12.7819;RPPR=3.68421;RPR=1;RUN=1;SAF=3;SAP=4.09604;SAR=5;SF=21,27;SRF=16;SRP=3.68421;SRR=13;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-15.7202,0,-79.9522:37:29:8:307:1046:29,8 . . . . . 0/1:-134.448,0,-91.4978:86:36:50:1856:1351:36,50 . . . . . . . . . +chr6 123687288 . A C 3963.62 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=117;CIGAR=1X;DP=1621;DPB=117;DPRA=0;EPP=3.17734;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.6667;MQMR=0;NS=1;NUMALT=1;ODDS=166.802;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4308;QR=0;RO=0;RPL=46;RPP=14.61;RPPR=0;RPR=71;RUN=1;SAF=60;SAP=3.17734;SAR=57;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-372.497,-35.2205,0:117:0:117:4308:0:0,117 . . 1/1:-335.562,-31.3071,0:104:0:104:3883:0:0,104 . 1/1:-481.05,-44.5524,0:148:0:148:5587:0:0,148 1/1:-315.547,-29.1999,0:97:0:97:3651:0:0,97 . . 1/1:-235.868,-21.6742,0:72:0:72:2727:0:0,72 1/1:-385.022,-35.5215,0:118:0:118:4459:0:0,118 . 1/1:-541.421,-49.67,0:165:0:165:6272:0:0,165 . . . 1/1:-376.577,-33.7232,0:118:1:117:4380:18:1,117 . . . 1/1:-440.773,-37.8877,0:138:1:137:5158:38:1,137 1/1:-292.646,-27.2999,0:96:1:95:3397:16:1,95 . . 1/1:-218.066,-20.47,0:68:0:68:2519:0:0,68 1/1:-647.405,-58.6071,0:200:1:199:7513:16:1,199 . 1/1:-584.353,-54.1854,0:180:0:180:6765:0:0,180 . . . . . . . . . +chr6 123687403 . A G 830.52 . AB=0.73913;ABP=25.858;AC=1;AF=0.5;AN=2;AO=34;CIGAR=1X;DP=46;DPB=46;DPRA=0;EPP=3.26577;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=40.9412;MQMR=42;NS=1;NUMALT=1;ODDS=41.2912;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1287;QR=465;RO=12;RPL=28;RPP=33.9218;RPPR=5.9056;RPR=6;RUN=1;SAF=10;SAP=15.5282;SAR=24;SF=3;SRF=2;SRP=14.5915;SRR=10;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TRDN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1025179764;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d96.120664;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-95.4245,0,-26.5471:46:12:34:1287:465:12,34 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 123696766 . G T 1312.19 . AB=0.447917;ABP=5.27225;AC=5;AF=0.5;AN=10;AO=43;CIGAR=1X;DP=557;DPB=96;DPRA=0;EPP=11.5447;EPPR=9.93443;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=243.904;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1655;QR=2022;RO=53;RPL=29;RPP=14.3727;RPPR=5.01789;RPR=14;RUN=1;SAF=24;SAP=4.27278;SAR=19;SF=0,6,12,20,27;SRF=28;SRP=3.37904;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-114.096,0,-145.818:96:53:43:1655:2022:53,43 . . . . . 0/1:-75.3539,0,-108.54:69:40:29:1110:1494:40,29 . . . . . 0/1:-221.497,0,-189.667:155:73:82:3100:2734:73,82 . . . . . . . 0/1:-127.967,0,-150.989:104:56:48:1843:2110:56,48 . . . . . . 0/1:-155.938,0,-195.663:133:73:60:2268:2724:73,60 . . . . . . . . . +chr6 123699019 . A C 1174.66 . AB=0.569767;ABP=6.64625;AC=5;AF=0.5;AN=8;AO=49;CIGAR=1X;DP=338;DPB=86;DPRA=0;EPP=6.59988;EPPR=5.88603;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=187.932;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1818;QR=1364;RO=37;RPL=25;RPP=3.05462;RPPR=10.1116;RPR=24;RUN=1;SAF=10;SAP=40.2799;SAR=39;SF=5,6,9,25;SRF=6;SRP=39.6906;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-131.691,0,-92.5697:86:37:49:1818:1364:37,49 0/1:-56.4585,0,-74.2573:50:28:22:820:1028:28,22 . . 1/1:-147.1,-13.8474,0:46:0:46:1693:0:0,46 . . . . . . . . . . . . . . . 0/1:-176.859,0,-219.745:156:85:70:2583:3072:85,70 . . . . . . . . . . . +chr6 123699042 . T C 1262.57 . AB=0.471264;ABP=3.63429;AC=11;AF=0.5;AN=18;AO=41;CIGAR=1X;DP=789;DPB=87;DPRA=0;EPP=3.48696;EPPR=4.70971;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=221.917;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1550;QR=1735;RO=46;RPL=25;RPP=7.30028;RPPR=9.80795;RPR=16;RUN=1;SAF=5;SAP=53.9075;SAR=36;SF=0,3,5,10,16,20,21,24,25;SRF=11;SRP=30.2009;SRR=35;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-108.258,0,-124.01:87:46:41:1550:1735:46,41 . . 0/1:-115.727,0,-95.2192:82:36:45:1617:1385:36,45 . 0/1:-91.4261,0,-136.461:85:49:36:1349:1873:49,36 . . . . 1/1:-208.707,-20.169,0:67:0:67:2422:0:0,67 . . . . . 0/1:-99.5462,0,-87.9234:72:34:38:1396:1267:34,38 . . . 0/1:-164.363,0,-118.947:108:47:61:2275:1748:47,61 0/1:-68.3826,0,-140.153:79:51:28:1062:1905:51,28 . . 1/1:-155.065,-14.1484,0:47:0:47:1791:0:0,47 0/1:-224.352,0,-199.688:162:77:85:3155:2871:77,85 . . . . . . . . . . . +chr6 123702499 . G A 1833.72 . AB=0.443548;ABP=6.44263;AC=7;AF=0.5;AN=12;AO=55;CIGAR=1X;DP=835;DPB=124;DPRA=0;EPP=9.68264;EPPR=3.82055;GTI=0;LEN=1;MEANALT=3;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=306.969;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2051;QR=2473;RO=67;RPL=23;RPP=6.20829;RPPR=10.3026;RPR=32;RUN=1;SAF=32;SAP=6.20829;SAR=23;SF=5,6,9,21,25,27;SRF=39;SRP=6.93191;SRR=28;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-140.914,0,-177.626:124:67:55:2051:2473:67,55 0/1:-104.577,0,-121.897:88:47:41:1507:1707:47,41 . . 1/1:-309.417,-28.8989,0:96:0:96:3574:0:0,96 . . . . . . . . . . . 0/1:-49.4737,0,-181.818:96:69:27:899:2424:69,27 . . . 0/1:-306.815,0,-314.404:243:123:120:4384:4466:123,120 . 0/1:-242.256,0,-233.751:188:94:94:3450:3336:94,94 . . . . . . . . . +chr6 123714764 . C T 137.78 . AB=0.22449;ABP=35.3165;AC=1;AF=0.5;AN=2;AO=11;CIGAR=1X;DP=49;DPB=49;DPRA=0;EPP=4.78696;EPPR=5.88603;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=31.7259;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=426;QR=1374;RO=37;RPL=6;RPP=3.20771;RPPR=3.5385;RPR=5;RUN=1;SAF=8;SAP=7.94546;SAR=3;SF=21;SRF=24;SRP=10.1116;SRR=13;TYPE=snp;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\x3dOREG1579122|N/A|FOXA1|PAZAR,OREG1637760|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.795319;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-22.4072,0,-104.963:49:37:11:426:1374:37,11 . . . . . . . . . . . . . . . +chr6 123833457 . G C 1035.46 . AB=0.458333;ABP=3.37221;AC=21;AF=0.5;AN=22;AO=11;CIGAR=1X;DP=392;DPB=24;DPRA=0;EPP=4.78696;EPPR=16.5402;GTI=0;LEN=1;MEANALT=1;MQM=41.8182;MQMR=42;NS=1;NUMALT=1;ODDS=54.3147;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=416;QR=488;RO=13;RPL=4;RPP=4.78696;RPPR=16.5402;RPR=7;RUN=1;SAF=8;SAP=7.94546;SAR=3;SF=0,3,5,6,9,10,16,20,21,24,25;SRF=4;SRP=7.18621;SRR=9;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-29.0955,0,-35.4123:24:13:11:416:488:13,11 . . 1/1:-107.777,-10.5361,0:35:0:35:1268:0:0,35 . 1/1:-130.461,-12.9443,0:43:0:43:1528:0:0,43 1/1:-81.3707,-7.82678,0:26:0:26:931:0:0,26 . . 1/1:-74.196,-6.92369,0:23:0:23:861:0:0,23 1/1:-115.21,-11.1381,0:37:0:37:1323:0:0,37 . . . . . 1/1:-155.192,-15.0515,0:50:0:50:1815:0:0,50 . . . 1/1:-131.437,-12.3422,0:41:0:41:1511:0:0,41 1/1:-102.042,-9.63296,0:32:0:32:1172:0:0,32 . . 1/1:-68.2832,-6.32163,0:21:0:21:783:0:0,21 1/1:-189.477,-18.0618,0:60:0:60:2195:0:0,60 . . . . . . . . . . . +chr6 123851610 . G A 592.95 . AB=0;ABP=0;AC=18;AF=1;AN=20;AO=25;CIGAR=1X;DP=232;DPB=25;DPRA=0;EPP=3.09716;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=39;MQMR=0;NS=1;NUMALT=1;ODDS=39.2625;PAIRED=0.92;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=927;QR=0;RO=0;RPL=9;RPP=7.26639;RPPR=0;RPR=16;RUN=1;SAF=19;SAP=17.6895;SAR=6;SF=3,5,6,9,10,16,20,21,24,25;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-75.9009,-7.52575,0:25:0:25:927:0:0,25 . 0/1:-42.083,0,-38.3451:32:15:17:634:550:15,17 1/1:-26.5302,-2.70927,0:9:0:9:317:0:0,9 . . 1/1:-34.742,-3.31133,0:11:0:11:428:0:0,11 1/1:-75.5497,-7.22472,0:24:0:24:882:0:0,24 . . . . . 1/1:-71.408,-7.22472,0:24:0:24:881:0:0,24 . . . 1/1:-62.105,-6.0206,0:20:0:20:758:0:0,20 1/1:-79.1826,-7.22472,0:24:0:24:912:0:0,24 . . 0/1:-28.1961,0,-11.6926:16:5:11:391:186:5,11 1/1:-147.369,-14.1484,0:47:0:47:1743:0:0,47 . . . . . . . . . . . +chr6 123869607 . G C 3085.31 . AB=0;ABP=0;AC=14;AF=1;AN=18;AO=134;CIGAR=1X;DP=1189;DPB=134;DPRA=0;EPP=7.15878;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9851;MQMR=0;NS=1;NUMALT=1;ODDS=190.369;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5009;QR=0;RO=0;RPL=18;RPP=158.643;RPPR=0;RPR=116;RUN=1;SAF=77;SAP=9.49231;SAR=57;SF=5,9,10,12,16,20,21,24,25;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 1/1:-433.169,-40.338,0:134:0:134:5009:0:0,134 . . . 0/1:-80.3634,0,-148.652:89:55:34:1235:2024:55,34 1/1:-321.672,-30.103,0:100:0:100:3730:0:0,100 . 1/1:-616.69,-57.1957,0:190:0:190:7151:0:0,190 . . . 0/1:-148.741,0,-262.053:157:96:61:2295:3579:96,61 . . . 1/1:-460.629,-43.3483,0:145:0:144:5354:0:0,144 0/1:-119.136,0,-94.8927:83:39:44:1662:1391:39,44 . . 0/1:-52.3913,0,-123.173:68:44:24:866:1658:44,24 1/1:-703.434,-65.5308,0:223:1:222:8154:16:1,222 . . . . . . . . . . . +chr6 123869769 . TAAAAAAAAAAAAAAAGAAAAAGTTTGTG TAAAAAAAAAAAAAGAAAAAGTTTGTG 567.58 . AB=0;ABP=0;AC=15;AF=1;AN=18;AO=35;CIGAR=1M2D24M;DP=350;DPB=44.5185;DPRA=0;EPP=35.8306;EPPR=0;GTI=0;LEN=2;MEANALT=8;MQM=40;MQMR=0;NS=1;NUMALT=1;ODDS=23.1864;PAIRED=0.942857;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1017;QR=0;RO=0;RPL=21;RPP=6.05036;RPPR=0;RPR=14;RUN=1;SAF=15;SAP=4.56135;SAR=20;SF=5,9,10,12,16,20,21,24,25;SRF=0;SRP=0;SRR=0;TYPE=del;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\x3d99.435288,97.931712;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 1/1:.,.,0:48:0:35:1017:0:0,35 . . . 0/1:-11.7526,0,-6.21648:18:3:5:169:106:3,5 1/1:.,.,0:23:0:19:622:0:0,19 . 1/1:.,.,0:68:0:47:1589:0:0,47 . . . 1/1:.,.,0:30:0:20:602:0:0,20 . . . 1/1:.,.,0:38:1:24:728:37:1,24 0/1:.,.,-24.521:34:10:7:222:352:10,7 . . 0/1:.,.,-15.1555:16:6:4:112:222:6,4 1/1:.,.,0:75:0:45:1532:0:0,45 . . . . . . . . . . . +chr6 133782375 . T A 1307.19 . AB=0.504673;ABP=3.03059;AC=4;AF=0.5;AN=8;AO=54;CIGAR=1X;DP=455;DPB=107;DPRA=0;EPP=4.45795;EPPR=14.851;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6604;NS=1;NUMALT=1;ODDS=300.248;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2010;QR=2006;RO=53;RPL=41;RPP=34.5369;RPPR=32.8783;RPR=13;RUN=1;SAF=17;SAP=19.0953;SAR=37;SF=3,10,21,27;SRF=22;SRP=6.32897;SRR=31;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-141.869,0,-140.975:107:53:54:2010:2006:53,54 . . . . . . 0/1:-133.664,0,-126.862:100:49:51:1913:1836:49,51 . . . . . . . . . . 0/1:-63.8853,0,-128.646:75:48:27:994:1743:48,27 . . . . . 0/1:-226.581,0,-221.675:173:87:86:3216:3165:87,86 . . . . . . . . . +chr6 133783625 . ATCTTCTG ATCTG 386.21 . AB=0.246154;ABP=75.7713;AC=1;AF=0.5;AN=2;AO=32;CIGAR=1M3D4M;DP=130;DPB=118;DPRA=0;EPP=9.79615;EPPR=5.22609;GTI=0;LEN=3;MEANALT=1;MQM=41.8125;MQMR=41.8061;NS=1;NUMALT=1;ODDS=88.9289;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1095;QR=3632;RO=98;RPL=12;RPP=7.35324;RPPR=4.4284;RPR=20;RUN=1;SAF=27;SAP=35.8538;SAR=5;SF=21;SRF=77;SRP=72.4974;SRR=21;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=EYA4;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.058107;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139659489;CLNALLELEID=174345;CLNDN=not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant;CLNDISDB=MedGen:CN169374|MedGen:CN239310|MedGen:CN239435;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign/Likely_benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0233;ExAC_nontcga_AFR=0.1042;ExAC_nontcga_AMR=0.0041;ExAC_nontcga_EAS=0.0924;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0.0144;ExAC_nontcga_SAS=0.0435;AF=0.0322;AF_popmax=0.0987;AF_male=0.0353;AF_female=0.0284;AF_raw=0.0324;AF_afr=0.0987;AF_sas=.;AF_amr=0.0071;AF_eas=0.0816;AF_nfe=0.0003;AF_fin=0;AF_asj=0;AF_oth=0.0138;non_topmed_AF_popmax=0.0987;non_neuro_AF_popmax=0.1035;non_cancer_AF_popmax=.;controls_AF_popmax=0.1064;Kaviar_AF=0.0004463;Kaviar_AC=69;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.287953;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-56.4696,0,-275.141:130:98:32:1095:3632:98,32 . . . . . . . . . . . . . . . +chr6 133789728 . G A 4341.43 . AB=0;ABP=0;AC=11;AF=1;AN=20;AO=284;CIGAR=1X;DP=2948;DPB=284;DPRA=0;EPP=5.48761;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7535;MQMR=0;NS=1;NUMALT=1;ODDS=398.313;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10688;QR=0;RO=0;RPL=161;RPP=14.0512;RPPR=0;RPR=123;RUN=1;SAF=136;SAP=4.11133;SAR=148;SF=0,3,5,6,9,10,12,20,21,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-919.724,-85.4925,0:284:0:284:10688:0:0,284 . . 0/1:-330.081,0,-423.627:292:160:132:4836:5915:160,132 . 0/1:-567.395,0,-336.273:342:135:207:7769:5085:135,207 0/1:-266.991,0,-316.717:221:118:103:3868:4456:118,103 . . 0/1:-309.295,0,-352.616:254:135:119:4464:5000:135,119 0/1:-361.331,0,-300.844:254:118:135:5078:4364:118,135 . 0/1:-425.531,0,-382.142:311:146:162:6008:5495:146,162 . . . . . . . 0/1:-511.347,0,-543.689:397:202:195:7301:7683:202,195 0/1:-241.571,0,-292.124:205:111:94:3516:4097:111,94 . . . . . 0/1:-497.462,0,-494.79:388:194:194:7129:7065:194,194 . . . . . . . . . +chr6 133827354 . A G 771.60 . AB=0;ABP=0;AC=17;AF=1;AN=26;AO=44;CIGAR=1X;DP=617;DPB=44;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=65.6021;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1649;QR=0;RO=0;RPL=38;RPP=53.5464;RPPR=0;RPR=6;RUN=1;SAF=16;SAP=10.1169;SAR=28;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-143.351,-13.2453,0:44:0:44:1649:0:0,44 . . 0/1:-82.8189,0,-54.1397:52:21:31:1133:804:21,31 . 0/1:-68.5656,0,-41.1608:42:16:26:932:621:16,26 1/1:-89.6643,-8.42884,0:28:0:28:1030:0:0,28 . . 0/1:-31.7488,0,-68.4202:38:25:13:496:918:25,13 0/1:-58.3723,0,-88.8864:59:33:25:871:1226:33,25 . 0/1:-118.616,0,-78.5723:76:32:44:1628:1168:32,44 . . . 0/1:-46.8344,0,-81.1179:48:29:19:706:1101:29,19 . . . 0/1:-51.2097,0,-35.8729:33:14:19:702:525:14,19 0/1:-28.2069,0,-41.8809:26:15:11:411:571:15,11 . . 1/1:-84.7977,-7.82678,0:26:0:26:974:0:0,26 0/1:-111.295,0,-98.8367:80:38:42:1554:1416:38,42 . 1/1:-205.218,-19.567,0:65:0:65:2356:0:0,65 . . . . . . . . . +chr6 133849966 . C T 2128.58 . AB=0.544776;ABP=5.34382;AC=10;AF=0.5;AN=18;AO=73;CIGAR=1X;DP=1246;DPB=134;DPRA=0;EPP=9.70319;EPPR=3.33068;GTI=0;LEN=1;MEANALT=1;MQM=41.726;MQMR=42;NS=1;NUMALT=1;ODDS=342.208;PAIRED=0.986301;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2772;QR=2321;RO=61;RPL=58;RPP=58.011;RPPR=51.7438;RPR=15;RUN=1;SAF=39;SAP=3.75395;SAR=34;SF=0,3,6,10,16,21,24,25,27;SRF=30;SRP=3.0459;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-197.986,0,-160.155:134:61:73:2772:2321:61,73 . . 0/1:-164.939,0,-188.363:133:71:62:2387:2643:71,62 . . 0/1:-134.549,0,-139.619:104:53:51:1919:1974:53,51 . . . 0/1:-142.318,0,-151.837:112:58:54:2060:2147:58,54 . . . . . 0/1:-186.355,0,-206.389:147:76:71:2679:2910:76,71 . . . . 0/1:-54.5993,0,-230.515:109:81:28:1029:3060:81,28 . . 0/1:-83.8548,0,-72.5208:58:27:31:1170:1040:27,31 0/1:-360.331,0,-256.322:231:100:131:4981:3779:100,131 . 1/1:-706.343,-65.3235,0:218:0:217:8185:0:0,217 . . . . . . . . . +chr6 152443744 . G T 7437.88 . AB=0.48816;ABP=3.67875;AC=2;AF=0.5;AN=4;AO=268;CIGAR=1X;DP=1128;DPB=549;DPRA=0;EPP=7.67735;EPPR=3.38896;GTI=0;LEN=1;MEANALT=1;MQM=41.903;MQMR=41.9929;NS=1;NUMALT=1;ODDS=1610.7;PAIRED=0.996269;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=10134;QR=10560;RO=281;RPL=152;RPP=13.5112;RPPR=39.8017;RPR=116;RUN=1;SAF=128;SAP=4.17706;SAR=140;SF=5,20;SRF=141;SRP=3.01803;SRR=140;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-708.623,0,-746.739:549:281:268:10134:10560:281,268 . . . . . . . . . . . . . . 0/1:-800.705,0,-734.312:579:277:302:11388:10523:277,302 . . . . . . . . . . . . . . . . +chr6 152453291 . G A 4604.57 . AB=0.378747;ABP=49.8774;AC=2;AF=0.5;AN=4;AO=139;CIGAR=1X;DP=898;DPB=367;DPRA=0;EPP=8.64988;EPPR=3.9627;GTI=0;LEN=1;MEANALT=1;MQM=41.4676;MQMR=41.9912;NS=1;NUMALT=1;ODDS=758.669;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5275;QR=8398;RO=228;RPL=76;RPP=5.65044;RPPR=19.8106;RPR=63;RUN=1;SAF=64;SAP=4.90057;SAR=75;SF=9,27;SRF=104;SRP=6.8199;SRR=124;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-342.11,0,-616.832:367:228:139:5275:8398:228,139 . . . . . . . . . . . . . . . . . 0/1:-600.109,0,-775.521:531:293:237:8775:10826:293,237 . . . . . . . . . +chr6 152454618 . T C 3409.72 . AB=0.487544;ABP=3.38896;AC=1;AF=0.5;AN=2;AO=137;CIGAR=1X;DP=281;DPB=281;DPRA=0;EPP=38.0233;EPPR=63.28;GTI=0;LEN=1;MEANALT=2;MQM=41.9416;MQMR=41.8322;NS=1;NUMALT=1;ODDS=785.116;PAIRED=1;PAIREDR=0.993007;PAO=0;PQA=0;PQR=0;PRO=0;QA=5061;QR=5397;RO=143;RPL=60;RPP=7.591;RPPR=14.0803;RPR=77;RUN=1;SAF=53;SAP=18.2423;SAR=84;SF=25;SRF=60;SRP=11.0432;SRR=83;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_001347702:exon15:c.A2328G:p.I776M,SYNE1:NM_001347701:exon16:c.A2400G:p.I800M,SYNE1:NM_033071:exon143:c.A25650G:p.I8550M,SYNE1:NM_182961:exon143:c.A25794G:p.I8598M;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs761146246;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.017;SIFT_converted_rankscore=0.518;SIFT_pred=D;Polyphen2_HDIV_score=0.868;Polyphen2_HDIV_rankscore=0.489;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.232;Polyphen2_HVAR_rankscore=0.473;Polyphen2_HVAR_pred=B;LRT_score=0.000;LRT_converted_rankscore=0.537;LRT_pred=D;MutationTaster_score=0.983;MutationTaster_converted_rankscore=0.414;MutationTaster_pred=D;MutationAssessor_score=1.715;MutationAssessor_score_rankscore=0.445;MutationAssessor_pred=L;FATHMM_score=1.28;FATHMM_converted_rankscore=0.360;FATHMM_pred=T;PROVEAN_score=-1.47;PROVEAN_converted_rankscore=0.379;PROVEAN_pred=N;VEST3_score=0.526;VEST3_rankscore=0.669;MetaSVM_score=-1.109;MetaSVM_rankscore=0.032;MetaSVM_pred=T;MetaLR_score=0.045;MetaLR_rankscore=0.193;MetaLR_pred=T;M-CAP_score=0.012;M-CAP_rankscore=0.297;M-CAP_pred=T;REVEL_score=0.143;REVEL_rankscore=0.387;MutPred_score=0.509;MutPred_rankscore=0.606;CADD_raw=2.612;CADD_raw_rankscore=0.375;CADD_phred=20.3;DANN_score=0.962;DANN_rankscore=0.283;fathmm-MKL_coding_score=0.823;fathmm-MKL_coding_rankscore=0.412;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=-0.036;Eigen-PC-raw=0.012;GenoCanyon_score=0.298;GenoCanyon_score_rankscore=0.192;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.24;GERP++_RS_rankscore=0.361;phyloP100way_vertebrate=1.398;phyloP100way_vertebrate_rankscore=0.339;phyloP20way_mammalian=1.058;phyloP20way_mammalian_rankscore=0.762;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.784;phastCons20way_mammalian_rankscore=0.331;SiPhy_29way_logOdds=7.966;SiPhy_29way_logOdds_rankscore=0.291;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=9.538e-06;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.863e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.036479;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-353.35,0,-381.24:281:143:137:5061:5397:143,137 . . . . . . . . . . . +chr6 152464839 . A G 5552.82 . AB=0.526611;ABP=5.2061;AC=12;AF=0.5;AN=20;AO=188;CIGAR=1X;DP=3333;DPB=357;DPRA=0;EPP=3.0565;EPPR=4.30284;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=937.622;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6943;QR=6136;RO=168;RPL=150;RPP=147.898;RPPR=107.706;RPR=38;RUN=1;SAF=97;SAP=3.42611;SAR=91;SF=0,3,5,6,10,12,16,20,21,24;SRF=82;SRP=3.21711;SRR=86;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-494.041,0,-425.57:357:168:188:6943:6136:168,188 . . 0/1:-452.825,0,-481.719:363:185:176:6500:6822:185,176 . 1/1:-1312.75,-120.745,0:413:1:412:15206:37:1,412 0/1:-371.32,0,-404.929:302:157:145:5329:5734:157,145 . . . 0/1:-428.446,0,-420.379:327:164:163:6086:6018:164,163 . 0/1:-633.299,0,-582.126:468:227:240:8939:8327:227,240 . . . 1/1:-964.884,-90.008,0:300:0:299:11158:0:0,299 . . . 0/1:-514.849,0,-558.709:415:217:198:7388:7883:217,198 0/1:-396.793,0,-83.0502:193:47:144:5244:1610:47,144 . . 0/1:-207.361,0,-284.39:195:111:84:3073:3943:111,84 . . . . . . . . . . . . +chr6 152466674 . T C 2477.80 . AB=0.436937;ABP=10.6789;AC=6;AF=0.5;AN=12;AO=97;CIGAR=1X;DP=1291;DPB=222;DPRA=0;EPP=4.10723;EPPR=10.015;GTI=0;LEN=1;MEANALT=2;MQM=41.567;MQMR=42;NS=1;NUMALT=1;ODDS=489.513;PAIRED=1;PAIREDR=0.983871;PAO=0;PQA=0;PQR=0;PRO=0;QA=3360;QR=4532;RO=124;RPL=67;RPP=33.6572;RPPR=4.13106;RPR=30;RUN=1;SAF=46;SAP=3.56996;SAR=51;SF=0,5,12,20,21,24;SRF=66;SRP=4.13106;SRR=58;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-223.13,0,-326.383:222:124:97:3360:4532:124,97 . . . . 0/1:-321.279,0,-318.66:252:125:127:4572:4551:125,127 . . . . . . 0/1:-316.675,0,-436.944:294:164:130:4665:6060:164,130 . . . . . . . 0/1:-311.629,0,-307.815:243:119:124:4436:4414:119,124 0/1:-195.464,0,-162.082:147:67:80:2745:2380:67,80 . . 0/1:-172.238,0,-156.564:133:62:71:2431:2283:62,71 . . . . . . . . . . . . +chr6 152469188 . C G 895.89 . AB=0.481928;ABP=3.24576;AC=6;AF=0.5;AN=12;AO=40;CIGAR=1X;DP=488;DPB=83;DPRA=0;EPP=6.48466;EPPR=5.48477;GTI=0;LEN=1;MEANALT=1;MQM=41.9;MQMR=42;NS=1;NUMALT=1;ODDS=208.223;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1431;QR=1606;RO=43;RPL=9;RPP=29.2851;RPPR=21.2406;RPR=31;RUN=1;SAF=25;SAP=8.43898;SAR=15;SF=0,5,12,20,21,24;SRF=30;SRP=17.6046;SRR=13;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-99.7961,0,-114.364:83:43:40:1431:1606:43,40 . . . . 0/1:-115.264,0,-149.05:102:56:46:1678:2071:56,46 . . . . . . 0/1:-82.424,0,-152.312:91:57:34:1265:2069:57,34 . . . . . . . 0/1:-157.083,0,-145.913:118:58:60:2222:2088:58,60 0/1:-83.1383,0,-47.787:52:20:32:1134:729:20,32 . . 0/1:-59.6311,0,-44.925:42:18:22:827:658:18,22 . . . . . . . . . . . . +chr6 152469331 . C T 2910.18 . AB=0.537634;ABP=6.44263;AC=4;AF=0.5;AN=8;AO=150;CIGAR=1X;DP=989;DPB=279;DPRA=0;EPP=14.3599;EPPR=10.4337;GTI=0;LEN=1;MEANALT=1;MQM=41.8733;MQMR=42;NS=1;NUMALT=1;ODDS=737.657;PAIRED=0.993333;PAIREDR=0.984496;PAO=0;PQA=0;PQR=0;PRO=0;QA=5545;QR=4759;RO=129;RPL=64;RPP=10.0169;RPPR=13.531;RPR=86;RUN=1;SAF=83;SAP=6.71628;SAR=67;SF=0,12,21,24;SRF=64;SRP=3.02713;SRR=65;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-396.424,0,-329.278:279:129:150:5545:4759:129,150 . . . . . . . . . . . 0/1:-558.913,0,-573.945:439:221:217:7969:8142:221,217 . . . . . . . . 0/1:-48.0683,0,-287.565:133:103:29:1004:3774:103,29 . . 0/1:-204.116,0,-150.357:138:60:77:2834:2236:60,77 . . . . . . . . . . . . +chr6 152470752 . C A 3558.12 . AB=0.40991;ABP=34.3108;AC=3;AF=0.5;AN=6;AO=182;CIGAR=1X;DP=1124;DPB=444;DPRA=0;EPP=8.78498;EPPR=9.07545;GTI=0;LEN=1;MEANALT=2;MQM=41.8791;MQMR=41.9234;NS=1;NUMALT=1;ODDS=993.919;PAIRED=0.994505;PAIREDR=0.992337;PAO=0;PQA=0;PQR=0;PRO=0;QA=6741;QR=9835;RO=261;RPL=119;RPP=40.4264;RPPR=49.8093;RPR=63;RUN=1;SAF=71;SAP=22.1002;SAR=111;SF=5,20,21;SRF=118;SRP=8.21019;SRR=143;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-448.101,0,-715.202:444:261:182:6741:9835:261,182 . . . . . . . . . . . . . . 0/1:-616.891,0,-525.657:443:206:237:8697:7626:206,237 0/1:-71.9655,0,-525.355:237:190:45:1651:6885:190,45 . . . . . . . . . . . . . . . +chr6 152473181 . T C 6151.30 . AB=0.451289;ABP=17.3955;AC=3;AF=0.5;AN=6;AO=315;CIGAR=1X;DP=1629;DPB=698;DPRA=0;EPP=28.6612;EPPR=52.047;GTI=0;LEN=1;MEANALT=1;MQM=41.7492;MQMR=41.8747;NS=1;NUMALT=1;ODDS=1786.88;PAIRED=0.987302;PAIREDR=0.994778;PAO=0;PQA=0;PQR=0;PRO=0;QA=11567;QR=14344;RO=383;RPL=177;RPP=13.4954;RPPR=42.0685;RPR=138;RUN=1;SAF=156;SAP=3.07234;SAR=159;SF=5,20,21;SRF=192;SRP=3.01597;SRR=191;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-788.66,0,-1027.05:698:383:315:11567:14344:383,315 . . . . . . . . . . . . . . 0/1:-1001.95,0,-777.384:693:306:386:13991:11462:306,386 0/1:-108.367,0,-501.209:238:180:57:2086:6621:180,57 . . . . . . . . . . . . . . . +chr6 152529122 . G A 2980.07 . AB=0.470817;ABP=4.91139;AC=1;AF=0.5;AN=2;AO=121;CIGAR=1X;DP=257;DPB=257;DPRA=0;EPP=6.04318;EPPR=3.07417;GTI=0;LEN=1;MEANALT=1;MQM=40.9174;MQMR=41.6691;NS=1;NUMALT=1;ODDS=686.186;PAIRED=1;PAIREDR=0.970588;PAO=0;PQA=0;PQR=0;PRO=0;QA=4505;QR=5059;RO=136;RPL=57;RPP=3.88966;RPPR=31.1756;RPR=64;RUN=1;SAF=70;SAP=9.48883;SAR=51;SF=10;SRF=76;SRP=7.09778;SRR=60;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-305.955,0,-357.128:257:136:121:4505:5059:136,121 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152529260 . GAT AAT 3285.85 . AB=0.527027;ABP=5.35784;AC=6;AF=0.5;AN=12;AO=195;CIGAR=1X;DP=1960;DPB=370;DPRA=0;EPP=39.1904;EPPR=12.7944;GTI=0;LEN=1;MEANALT=2;MQM=40.9897;MQMR=40.8506;NS=1;NUMALT=1;ODDS=811.914;PAIRED=0.974359;PAIREDR=0.971264;PAO=0;PQA=0;PQR=0;PRO=0;QA=6711;QR=5530;RO=174;RPL=142;RPP=91.2166;RPPR=50.9824;RPR=53;RUN=1;SAF=92;SAP=4.35773;SAR=103;SF=0,9,16,21,24,25;SRF=83;SRP=3.809;SRR=91;TYPE=snp;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\x3dOREG1578107|N/A|FOXA1|PAZAR,OREG1285696|N/A|CEBPA|PAZAR,OREG1636788|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.640757;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:.,.,-365.839:370:174:195:6711:5530:174,195 . . . . . . . . 0/1:-262.695,0,-227.998:259:112:111:3814:3421:112,111 . . . . . . 0/1:-452.704,0,-310.054:392:148:183:6382:4764:148,183 . . . . 0/1:.,.,-337.492:187:138:48:1546:4508:138,48 . . 0/1:-181.684,0,-217.885:205:95:81:2703:3104:95,81 0/1:-617.703,0,-459.131:547:222:254:8768:6944:222,254 . . . . . . . . . . . +chr6 152540278 . A C 14931.68 . AB=0;ABP=0;AC=25;AF=1;AN=26;AO=446;CIGAR=1X;DP=6449;DPB=446;DPRA=0;EPP=17.2076;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.991;MQMR=0;NS=1;NUMALT=1;ODDS=622.892;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=16766;QR=0;RO=0;RPL=301;RPP=121.497;RPPR=0;RPR=145;RUN=1;SAF=187;SAP=28.25;SAR=259;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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\x3dOREG1578108|N/A|FOXA1|PAZAR,OREG1636790|N/A|FOXA1|PAZAR,OREG1172552|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.536829;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1447.32,-134.259,0:446:0:446:16766:0:0,446 . . 1/1:-1466.6,-136.066,0:452:0:452:17069:0:0,452 . 1/1:-1798.86,-166.572,0:555:1:553:20936:16:1,553 1/1:-1379.1,-127.637,0:424:0:424:15980:0:0,424 . . 1/1:-1333.07,-122.693,0:418:2:416:15517:34:2,416 1/1:-1662.77,-150.363,0:507:1:506:19340:33:1,506 . 1/1:-2117.11,-194.448,0:651:1:650:24627:16:1,650 . . . 1/1:-1787.56,-164.362,0:546:0:546:20771:0:0,546 . . . 0/1:-882.386,0,-809.415:638:306:331:12443:11642:306,331 1/1:-856.872,-79.0771,0:268:1:267:9928:16:1,267 . . 1/1:-870.959,-80.9771,0:269:0:269:10101:0:0,269 1/1:-2193.67,-205.001,0:681:0:681:25412:0:0,681 . 1/1:-1927.27,-178.812,0:594:0:594:22347:0:0,594 . . . . . . . . . +chr6 152542548 . A G 872.39 . AB=0.546512;ABP=4.62628;AC=5;AF=0.5;AN=10;AO=47;CIGAR=1X;DP=409;DPB=86;DPRA=0;EPP=8.60069;EPPR=5.73856;GTI=0;LEN=1;MEANALT=1;MQM=41.9574;MQMR=42;NS=1;NUMALT=1;ODDS=211.785;PAIRED=1;PAIREDR=0.974359;PAO=0;PQA=0;PQR=0;PRO=0;QA=1697;QR=1447;RO=39;RPL=17;RPP=10.8184;RPPR=12.42;RPR=30;RUN=1;SAF=32;SAP=16.3625;SAR=15;SF=3,6,10,12,21;SRF=26;SRP=12.42;SRR=13;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-121.685,0,-100.028:86:39:47:1697:1447:39,47 . . 0/1:-102.337,0,-79.5548:72:31:40:1422:1164:31,40 . . . 0/1:-91.1275,0,-69.9717:64:28:36:1267:1028:28,36 . 0/1:-141.807,0,-152.962:112:58:54:2024:2154:58,54 . . . . . . . . 0/1:-30.6583,0,-157.053:75:58:17:610:2063:58,17 . . . . . . . . . . . . . . . +chr6 152545665 . G A 1734.72 . AB=0.515625;ABP=3.28173;AC=1;AF=0.5;AN=2;AO=66;CIGAR=1X;DP=128;DPB=128;DPRA=0;EPP=3.53672;EPPR=3.15039;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=356.357;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2538;QR=2323;RO=62;RPL=25;RPP=11.433;RPPR=23.184;RPR=41;RUN=1;SAF=36;SAP=4.19474;SAR=30;SF=3;SRF=29;SRP=3.57068;SRR=33;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon116:c.C21273T:p.S7091S,SYNE1:NM_182961:exon117:c.C21486T:p.S7162S;1000g2015aug_all=0.000199681;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139078338;CLNALLELEID=266675;CLNDN=Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified;CLNDISDB=MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|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=0.0022;ExAC_nontcga_ALL=0.0014;ExAC_nontcga_AFR=0.0001;ExAC_nontcga_AMR=8.922e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0026;ExAC_nontcga_OTH=0.0014;ExAC_nontcga_SAS=6.095e-05;AF=0.0010;AF_popmax=0.0019;AF_male=0.0011;AF_female=0.0009;AF_raw=0.0010;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=0.0019;non_neuro_AF_popmax=0.0019;non_cancer_AF_popmax=.;controls_AF_popmax=0.0022;Kaviar_AF=0.0011966;Kaviar_AC=185;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.074286;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-180.686,0,-163.036:128:62:66:2538:2323:62,66 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152555057 . T A 6300.44 . AB=0.528889;ABP=6.27233;AC=1;AF=0.5;AN=2;AO=238;CIGAR=1X;DP=450;DPB=450;DPRA=0;EPP=5.346;EPPR=5.9845;GTI=0;LEN=1;MEANALT=2;MQM=41.9664;MQMR=41.8294;NS=1;NUMALT=1;ODDS=1252.74;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=8970;QR=7999;RO=211;RPL=117;RPP=3.15628;RPPR=3.02059;RPR=121;RUN=1;SAF=138;SAP=16.1851;SAR=100;SF=5;SRF=124;SRP=17.0991;SRR=87;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-639.246,0,-553.322:450:211:238:8970:7999:211,238 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152555112 . C T 6184.47 . AB=0.487097;ABP=3.4586;AC=4;AF=0.5;AN=6;AO=151;CIGAR=1X;DP=1016;DPB=310;DPRA=0;EPP=22.6974;EPPR=14.4959;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=869.014;PAIRED=0.986755;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5586;QR=5812;RO=159;RPL=101;RPP=40.4143;RPPR=5.31834;RPR=50;RUN=1;SAF=74;SAP=3.13973;SAR=77;SF=0,5,9;SRF=59;SRP=25.9678;SRR=100;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-390.139,0,-411.484:310:159:151:5586:5812:159,151 . . . . 0/1:-582.699,0,-478.235:411:188:222:8164:6956:188,222 . . . 1/1:-919.056,-88.5028,0:295:0:294:10622:0:0,294 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152565669 . C T 1957.35 . AB=0.596774;ABP=13.0971;AC=2;AF=0.5;AN=4;AO=74;CIGAR=1X;DP=283;DPB=124;DPRA=0;EPP=3.47981;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=249.574;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2732;QR=1776;RO=50;RPL=22;RPP=29.4201;RPPR=20.3821;RPR=52;RUN=1;SAF=41;SAP=4.88833;SAR=33;SF=0,16;SRF=30;SRP=7.35324;SRR=20;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-199.834,0,-117.568:124:50:74:2732:1776:50,74 . . . . . . . . . . . . . . . 0/1:-209.897,0,-198.829:159:79:79:2972:2833:79,79 . . . . . . . . . . . . . . . . . . . . +chr6 152570274 . A G 453.96 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=19;CIGAR=1X;DP=38;DPB=38;DPRA=0;EPP=5.8675;EPPR=5.8675;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=94.8212;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=730;QR=713;RO=19;RPL=6;RPP=8.61041;RPPR=36.0395;RPR=13;RUN=1;SAF=13;SAP=8.61041;SAR=6;SF=9;SRF=8;SRP=4.03889;SRR=11;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-51.8762,0,-50.3703:38:19:19:730:713:19,19 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152570415 . G A 947.50 . AB=0;ABP=0;AC=15;AF=1;AN=22;AO=59;CIGAR=1X;DP=575;DPB=59;DPRA=0;EPP=22.4799;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=86.3965;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2270;QR=0;RO=0;RPL=43;RPP=29.8409;RPPR=0;RPR=16;RUN=1;SAF=25;SAP=5.99147;SAR=34;SF=0,3,5,6,9,10,12,16,20,21,24;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-196.025,-17.7608,0:59:0:59:2270:0:0,59 . . 0/1:-73.5475,0,-75.1228:56:28:28:1042:1059:28,28 . 1/1:-135.535,-12.3422,0:41:0:41:1571:0:0,41 0/1:-48.6924,0,-53.6087:40:21:19:699:753:21,19 . . 0/1:-62.7646,0,-71.7089:53:28:25:907:1006:28,25 0/1:-82.8297,0,-60.7733:54:24:30:1143:886:24,30 . 0/1:-122.058,0,-120.54:92:46:46:1729:1709:46,46 . . . 1/1:-221.605,-20.169,0:67:0:67:2565:0:0,67 . . . 0/1:-54.9973,0,-53.0893:42:21:21:779:755:21,21 0/1:-59.2392,0,-65.8561:50:27:23:856:922:27,23 . . 1/1:-65.8156,-6.32163,0:21:0:21:756:0:0,21 . . . . . . . . . . . . +chr6 152577752 . T C 3603.10 . AB=0.563265;ABP=11.5278;AC=3;AF=0.5;AN=6;AO=138;CIGAR=1X;DP=840;DPB=245;DPRA=0;EPP=19.1233;EPPR=10.3365;GTI=0;LEN=1;MEANALT=1;MQM=41.9855;MQMR=41.8318;NS=1;NUMALT=1;ODDS=600.602;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4967;QR=4042;RO=107;RPL=43;RPP=45.5586;RPPR=44.1059;RPR=95;RUN=1;SAF=84;SAP=17.1721;SAR=54;SF=0,16,20;SRF=67;SRP=17.8047;SRR=40;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-357.757,0,-274.732:245:107:138:4967:4042:107,138 . . . . . . . . . . . . . . . 0/1:-403.7,0,-402.359:306:151:155:5732:5739:151,155 . . . 0/1:-369.244,0,-376.577:289:145:144:5257:5386:145,144 . . . . . . . . . . . . . . . . +chr6 152615200 . G A 5672.55 . AB=0.538462;ABP=6.51806;AC=5;AF=0.5;AN=8;AO=147;CIGAR=1X;DP=1289;DPB=273;DPRA=0;EPP=4.20683;EPPR=4.11327;GTI=0;LEN=1;MEANALT=1;MQM=41.4694;MQMR=42;NS=1;NUMALT=1;ODDS=719.301;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5556;QR=4638;RO=126;RPL=68;RPP=4.7977;RPPR=4.73369;RPR=79;RUN=1;SAF=61;SAP=12.2428;SAR=86;SF=0,5,6,12;SRF=55;SRP=7.42218;SRR=71;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-394.27,0,-320.222:273:126:147:5556:4638:126,147 . . . . 1/1:-1134.43,-104.758,0:348:0:348:13157:0:0,348 0/1:-313.348,0,-327.195:241:124:117:4471:4614:124,117 . . . . . 0/1:-461.485,0,-661.713:427:245:182:6867:9156:245,182 . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152629617 . C T 3562.19 . AB=0.449275;ABP=6.09442;AC=9;AF=0.5;AN=14;AO=62;CIGAR=1X;DP=1351;DPB=138;DPRA=0;EPP=19.9618;EPPR=18.3264;GTI=0;LEN=1;MEANALT=2;MQM=40.871;MQMR=41.92;NS=1;NUMALT=1;ODDS=340.626;PAIRED=0.983871;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2330;QR=2690;RO=75;RPL=27;RPP=5.25182;RPPR=9.52472;RPR=35;RUN=1;SAF=35;SAP=5.25182;SAR=27;SF=0,6,10,12,20,25,27;SRF=44;SRP=7.90335;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-156.5,0,-192.144:138:75:62:2330:2690:75,62 . . . . . 0/1:-199.166,0,-197.081:151:76:75:2843:2801:76,75 . . . 0/1:-235.848,0,-170.897:154:67:87:3266:2513:67,87 . 1/1:-600.242,-55.1906,0:189:1:188:6996:18:1,188 . . . . . . . 0/1:-301.88,0,-233.07:207:93:114:4221:3436:93,114 . . . . 0/1:-296.589,0,-406.518:269:153:116:4366:5675:153,116 . 1/1:-783.376,-73.1503,0:243:0:243:9087:0:0,243 . . . . . . . . . +chr6 152629631 . C T 1992.79 . AB=0.465909;ABP=4.78696;AC=1;AF=0.5;AN=2;AO=82;CIGAR=1X;DP=176;DPB=176;DPRA=0;EPP=3.434;EPPR=3.84193;GTI=0;LEN=1;MEANALT=1;MQM=40.6829;MQMR=41.617;NS=1;NUMALT=1;ODDS=458.857;PAIRED=0.987805;PAIREDR=0.989362;PAO=0;PQA=0;PQR=0;PRO=0;QA=3053;QR=3474;RO=94;RPL=32;RPP=11.5903;RPPR=10.4949;RPR=50;RUN=1;SAF=43;SAP=3.434;SAR=39;SF=5;SRF=56;SRP=10.4949;SRR=38;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-206.784,0,-247.284:176:94:82:3053:3474:94,82 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152629772 . GAAAAAAAAAAAAAACAGAAAGATAGAC GAAAAAAAAAAAAACAGAAAGATAGAC,GAAAAAAAAAAAACAGAAAGATAGAC 1057.32 . AB=0.353659;ABP=18.2636;AC=10,2;AF=0.5;AN=18;AO=29;CIGAR=1M1D26M;DP=952;DPB=80.4643;DPRA=0;EPP=6.67934;EPPR=8.35546;GTI=0;LEN=1;MEANALT=20;MQM=40.8276;MQMR=42;NS=1;NUMALT=1;ODDS=121.1;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=878;QR=949;RO=26;RPL=21;RPP=15.6647;RPPR=8.35546;RPR=8;RUN=1;SAF=10;SAP=9.07545;SAR=19;SF=0,5,6,10,12,16,20,25,27;SRF=8;SRP=11.3621;SRR=18;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.426518;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs55633181;CLNALLELEID=215329;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=0.4161;ExAC_nontcga_AFR=0.3163;ExAC_nontcga_AMR=0.4990;ExAC_nontcga_EAS=0.5172;ExAC_nontcga_FIN=0.4261;ExAC_nontcga_NFE=0.4025;ExAC_nontcga_OTH=0.4071;ExAC_nontcga_SAS=0.4127;AF=0.4322;AF_popmax=0.7619;AF_male=0.4372;AF_female=0.4257;AF_raw=0.3829;AF_afr=0.3111;AF_sas=.;AF_amr=0.5820;AF_eas=0.7619;AF_nfe=0.4450;AF_fin=0.4860;AF_asj=0.5714;AF_oth=0.4688;non_topmed_AF_popmax=0.7615;non_neuro_AF_popmax=0.7619;non_cancer_AF_popmax=.;controls_AF_popmax=0.7523;Kaviar_AF=0.0092107;Kaviar_AC=1424;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;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:GL:DP:RO:AO:QA:QR:AD 0/1:-60.3142,0,-66.2141,.,.,.:82:26:29,.:878,.:949:26,29 . . . . 0/1:-82.7695,0,-64.1581,.,.,.:92:29:39,.:1235,.:1018:29,39 0/1:-28.9163,0,-53.4292,.,.,.:49:20:14,.:446,.:729:20,14 . . . 0/1:-69.5454,0,-16.0599,.,.,.:66:11:31,.:994,.:382:11,31 . 1/2:-190.687,-32.7387,-26.4094,-147.448,0,-153.151:108:5:61,21:2067,615:187:5,61,21 . . . 0/1:-17.4997,0,-144.699,.,.,.:96:54:14,.:448,.:1951:54,14 . . . 1/1:-216.461,-18.442,0,.,.,.:129:3:82,.:2591,.:110:3,82 . . . . 0/1:-141.078,0,-173.354,.,.,.:177:69:60,.:2063,.:2425:69,60 . 1/2:-251.038,-29.8981,-29.6728,-197.009,0,-217.242:153:11:92,24:2909,769:388:11,92,24 . . . . . . . . . +chr6 152640110 . G A 2001.33 . AB=0.573427;ABP=9.70694;AC=1;AF=0.5;AN=2;AO=82;CIGAR=1X;DP=143;DPB=143;DPRA=0;EPP=3.0103;EPPR=3.0459;GTI=0;LEN=1;MEANALT=1;MQM=41.5122;MQMR=42;NS=1;NUMALT=1;ODDS=316.314;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2938;QR=2176;RO=61;RPL=61;RPP=45.3805;RPPR=32.9481;RPR=21;RUN=1;SAF=44;SAP=3.96363;SAR=38;SF=9;SRF=32;SRP=3.33068;SRR=29;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-211.605,0,-147.293:143:61:82:2938:2176:61,82 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152646279 . G C 3309.72 . AB=0.452459;ABP=8.99787;AC=1;AF=0.5;AN=2;AO=138;CIGAR=1X;DP=305;DPB=305;DPRA=0;EPP=10.6262;EPPR=12.4894;GTI=0;LEN=1;MEANALT=1;MQM=41.4783;MQMR=41.8623;NS=1;NUMALT=1;ODDS=762.091;PAIRED=0.985507;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5060;QR=6022;RO=167;RPL=95;RPP=45.5586;RPPR=27.0525;RPR=43;RUN=1;SAF=79;SAP=9.30442;SAR=59;SF=9;SRF=92;SRP=6.76812;SRR=75;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-344.132,0,-429.644:305:167:138:5060:6022:167,138 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152647194 . C T 19.12 . AB=0.181818;ABP=32.0291;AC=1;AF=0.5;AN=2;AO=6;CIGAR=1X;DP=33;DPB=33;DPRA=0;EPP=8.80089;EPPR=5.02092;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=4.39013;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=233;QR=978;RO=27;RPL=2;RPP=4.45795;RPPR=3.73412;RPR=4;RUN=1;SAF=5;SAP=8.80089;SAR=1;SF=21;SRF=7;SRP=16.6021;SRR=20;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon79:c.G15124A:p.V5042I,SYNE1:NM_182961:exon80:c.G15337A:p.V5113I;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139170018;CLNALLELEID=195842;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=0.536;SIFT_converted_rankscore=0.070;SIFT_pred=T;Polyphen2_HDIV_score=0.992;Polyphen2_HDIV_rankscore=0.629;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.857;Polyphen2_HVAR_rankscore=0.593;Polyphen2_HVAR_pred=P;LRT_score=0.001;LRT_converted_rankscore=0.405;LRT_pred=N;MutationTaster_score=0.999;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=1.63;MutationAssessor_score_rankscore=0.419;MutationAssessor_pred=L;FATHMM_score=1.34;FATHMM_converted_rankscore=0.348;FATHMM_pred=T;PROVEAN_score=-0.11;PROVEAN_converted_rankscore=0.098;PROVEAN_pred=N;VEST3_score=0.285;VEST3_rankscore=0.344;MetaSVM_score=-1.028;MetaSVM_rankscore=0.210;MetaSVM_pred=T;MetaLR_score=0.100;MetaLR_rankscore=0.372;MetaLR_pred=T;M-CAP_score=0.007;M-CAP_rankscore=0.176;M-CAP_pred=T;REVEL_score=0.139;REVEL_rankscore=0.379;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.298;CADD_raw_rankscore=0.337;CADD_phred=18.15;DANN_score=0.988;DANN_rankscore=0.458;fathmm-MKL_coding_score=0.896;fathmm-MKL_coding_rankscore=0.498;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.233;Eigen-PC-raw=0.266;GenoCanyon_score=0.200;GenoCanyon_score_rankscore=0.181;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=5.010;phyloP100way_vertebrate_rankscore=0.635;phyloP20way_mammalian=0.022;phyloP20way_mammalian_rankscore=0.145;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=12.455;SiPhy_29way_logOdds_rankscore=0.549;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=0.0004;ExAC_nontcga_AMR=0.0008;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0005;ExAC_nontcga_NFE=0.0010;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;AF_sas=.;AF_amr=0.0012;AF_eas=0;AF_nfe=0.0010;AF_fin=0.0003;AF_asj=0.0034;AF_oth=0;non_topmed_AF_popmax=0.0012;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0007;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\x3d99.321028;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-10.4824,0,-75.3209:33:27:6:233:978:27,6 . . . . . . . . . . . . . . . +chr6 152647681 . A T 6898.98 . AB=0;ABP=0;AC=17;AF=1;AN=24;AO=303;CIGAR=1X;DP=3836;DPB=303;DPRA=0;EPP=6.80142;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8614;MQMR=0;NS=1;NUMALT=1;ODDS=424.652;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=11490;QR=0;RO=0;RPL=160;RPP=5.08144;RPPR=0;RPR=143;RUN=1;SAF=169;SAP=11.7894;SAR=134;SF=0,3,5,6,9,10,12,16,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-990.137,-91.2121,0:303:0:303:11490:0:0,303 . . 0/1:-383.398,0,-329.669:273:129:142:5389:4761:129,142 . 0/1:-526.292,0,-496.173:390:191:198:7477:7095:191,198 0/1:-270.024,0,-359.337:240:135:105:3963:4989:135,105 . . 0/1:-379.154,0,-355.053:281:136:145:5393:5081:136,145 1/1:-914.257,-85.1915,0:283:0:283:10625:0:0,283 . 1/1:-1350.57,-126.433,0:420:0:420:15745:0:0,420 . . . 1/1:-1016.26,-93.6203,0:311:0:311:11798:0:0,311 . . . . 0/1:-261.677,0,-249.245:199:98:99:3710:3560:98,99 . . 0/1:-244.049,0,-265.97:195:102:93:3524:3768:102,93 0/1:-719.546,0,-673.216:530:257:273:10191:9634:257,273 . 1/1:-1311.38,-123.723,0:411:0:411:15188:0:0,411 . . . . . . . . . +chr6 152650903 . G A 3356.04 . AB=0.49635;ABP=3.042;AC=1;AF=0.5;AN=2;AO=136;CIGAR=1X;DP=274;DPB=274;DPRA=0;EPP=39.7976;EPPR=16.3403;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9854;NS=1;NUMALT=1;ODDS=772.757;PAIRED=0.992647;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5119;QR=5092;RO=137;RPL=31;RPP=90.444;RPPR=69.9772;RPR=105;RUN=1;SAF=97;SAP=56.7223;SAR=39;SF=10;SRF=93;SRP=41.0665;SRR=44;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-360.812,0,-358.814:274:137:136:5119:5092:137,136 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152652034 . A T 5296.89 . AB=0;ABP=0;AC=17;AF=1;AN=24;AO=272;CIGAR=1X;DP=3032;DPB=272;DPRA=0;EPP=3.04223;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9853;MQMR=0;NS=1;NUMALT=1;ODDS=381.677;PAIRED=0.996324;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10046;QR=0;RO=0;RPL=190;RPP=96.1281;RPPR=0;RPR=82;RUN=1;SAF=183;SAP=73.5512;SAR=89;SF=0,3,5,6,9,10,12,16,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-871.735,-81.8802,0:272:0:272:10046:0:0,272 . . 0/1:-314.512,0,-292.454:238:114:122:4449:4198:114,122 . 0/1:-366.928,0,-346.732:272:132:139:5204:4948:132,139 0/1:-259.756,0,-259.038:201:101:100:3692:3682:101,100 . . 0/1:-252.548,0,-202.766:179:83:96:3523:2956:83,96 1/1:-692.053,-64.689,0:220:1:219:8013:16:1,219 . 1/1:-909.595,-84.319,0:290:2:288:10542:32:2,288 . . . 1/1:-719.144,-68.0328,0:228:0:226:8309:0:0,226 . . . . 0/1:-230.152,0,-260.425:196:100:95:3340:3680:100,95 . . 0/1:-187.907,0,-196.667:150:76:74:2683:2789:76,74 0/1:-555.616,0,-474.903:396:186:210:7800:6864:186,210 . 1/1:-1222.32,-115.662,0:390:1:388:14126:16:1,388 . . . . . . . . . +chr6 152652599 . G A 5560.05 . AB=0.516588;ABP=4.01885;AC=1;AF=0.5;AN=2;AO=218;CIGAR=1X;DP=422;DPB=422;DPRA=0;EPP=3.6478;EPPR=7.77458;GTI=0;LEN=1;MEANALT=3;MQM=41.8073;MQMR=41.9602;NS=1;NUMALT=1;ODDS=1148.61;PAIRED=0.990826;PAIREDR=0.985075;PAO=0;PQA=0;PQR=0;PRO=0;QA=8009;QR=7345;RO=201;RPL=89;RPP=18.9477;RPPR=48.6544;RPR=129;RUN=1;SAF=90;SAP=17.3938;SAR=128;SF=10;SRF=105;SRP=3.88537;SRR=96;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-566.466,0,-511.328:422:201:218:8009:7345:201,218 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152653037 . T C 2294.76 . AB=0;ABP=0;AC=14;AF=1;AN=20;AO=120;CIGAR=1X;DP=1206;DPB=120;DPRA=0;EPP=29.1404;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.6667;MQMR=0;NS=1;NUMALT=1;ODDS=170.96;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4392;QR=0;RO=0;RPL=85;RPP=48.2493;RPPR=0;RPR=35;RUN=1;SAF=28;SAP=77.1299;SAR=92;SF=0,3,5,6,10,12,16,21,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-379.846,-36.1236,0:120:0:120:4392:0:0,120 . . 0/1:-164.499,0,-115.292:108:45:63:2266:1705:45,63 . 0/1:-115.329,0,-163.676:106:60:46:1706:2264:60,46 0/1:-75.0219,0,-142.614:83:51:32:1148:1939:51,32 . . . 0/1:-125.251,0,-87.9738:84:35:47:1723:1311:35,47 . 1/1:-515.391,-48.7669,0:162:0:162:5953:0:0,162 . . . 1/1:-301.668,-27.9958,0:93:0:93:3476:0:0,93 . . . . 0/1:-54.6107,0,-206.197:99:73:26:968:2724:73,26 . . . 0/1:-210.176,0,-280.757:185:102:83:3061:3914:102,83 . 1/1:-505.356,-49.971,0:166:0:166:5836:0:0,166 . . . . . . . . . +chr6 152658062 . C G 4061.09 . AB=0.538235;ABP=7.3277;AC=2;AF=0.5;AN=4;AO=183;CIGAR=1X;DP=600;DPB=340;DPRA=0;EPP=17.5461;EPPR=16.3019;GTI=0;LEN=1;MEANALT=1;MQM=41.7923;MQMR=42;NS=1;NUMALT=1;ODDS=922.312;PAIRED=0.994536;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6876;QR=5945;RO=157;RPL=83;RPP=6.43957;RPPR=19.9533;RPR=100;RUN=1;SAF=104;SAP=10.4265;SAR=79;SF=5,9;SRF=77;SRP=3.13478;SRR=80;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-491.047,0,-410.98:340:157:183:6876:5945:157,183 . . . 0/1:-339.367,0,-355.746:260:132:128:4837:5027:132,128 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152658141 . CT AC,CC 5540.85 . AB=0.439394,0.560606;ABP=9.32731,9.32731;AC=1,1;AF=0.5,0.5;AN=2;AO=87,111;CIGAR=2X,1M1X;DP=198;DPB=198;DPRA=0,0;EPP=44.9671,49.9806;EPPR=0;GTI=0;LEN=2,1;MEANALT=2,2;MQM=41.5632,41.9279;MQMR=0;NS=1;NUMALT=2;ODDS=463.46;PAIRED=1,0.981982;PAIREDR=0;PAO=0,0;PQA=0,0;PQR=0;PRO=0;QA=3166,4190;QR=0;RO=0;RPL=51,69;RPP=8.62618,17.2716;RPPR=0;RPR=36,42;RUN=1,1;SAF=36,50;SAP=8.62618,5.3774;SAR=51,61;SF=10;SRF=0;SRP=0;SRR=0;TYPE=mnp,snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_substitution;AAChange.refGene=SYNE1:NM_033071:exon75:c.12149_12150GT,SYNE1:NM_182961:exon76:c.12362_12363GT;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs386707192;CLNALLELEID=214106;CLNDN=Cardiomyopathy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998;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=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_cancer_AF_popmax=.;controls_AF_popmax=.;Kaviar_AF=0.0029754;Kaviar_AC=460;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;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=SYNE1:NM_033071:exon75:c.12149delA:p.K4050fs,SYNE1:NM_182961:exon76:c.12362delA:p.K4121fs;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs878857220;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.051304;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 1/2:-576.442,-329.592,-303.402,-247.205,0,-213.791:198:0:87,111:3166,4190:0:0,87,111 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152658142 . T C 3768.59 . AB=0;ABP=0;AC=15;AF=1;AN=22;AO=194;CIGAR=1X;DP=2069;DPB=194;DPRA=0;EPP=35.6495;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9072;MQMR=0;NS=1;NUMALT=1;ODDS=273.546;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7127;QR=0;RO=0;RPL=120;RPP=26.695;RPPR=0;RPR=74;RUN=1;SAF=80;SAP=15.9496;SAR=114;SF=0,3,5,6,9,12,16,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-617.886,-58.3998,0:194:0:194:7127:0:0,194 . . 0/1:-240.845,0,-210.218:173:82:91:3372:3030:82,91 . 0/1:-269.197,0,-402.577:259:149:110:4000:5561:149,110 0/1:-183.401,0,-211.09:150:79:71:2638:2961:79,71 . . 0/1:-215.648,0,-179.784:153:70:83:3021:2624:70,83 . . 1/1:-799.103,-75.5585,0:252:0:251:9224:0:0,251 . . . 1/1:-519.07,-49.67,0:165:0:165:5998:0:0,165 . . . . 0/1:-83.659,0,-138.053:88:51:36:1275:1924:51,36 . . 0/1:-126.049,0,-65.9603:73:27:46:1702:1011:27,46 0/1:-346.135,0,-376.452:283:144:137:4980:5334:144,137 . 1/1:-875.788,-83.9874,0:279:0:279:10162:0:0,279 . . . . . . . . . +chr6 152660451 . G A 680.37 . AB=0.176471;ABP=95.7449;AC=2;AF=0.5;AN=4;AO=18;CIGAR=1X;DP=191;DPB=102;DPRA=0;EPP=20.3821;EPPR=89.9726;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9762;NS=1;NUMALT=1;ODDS=22.7136;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=667;QR=3014;RO=84;RPL=6;RPP=7.35324;RPPR=3.1137;RPR=12;RUN=1;SAF=9;SAP=3.0103;SAR=9;SF=21,24;SRF=42;SRP=3.0103;SRR=42;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-27.3017,0,-231.677:102:84:18:667:3014:84,18 . . 0/1:-136.607,0,-93.7634:89:38:51:1879:1385:38,51 . . . . . . . . . . . . +chr6 152665261 . C A 7284.58 . AB=0;ABP=0;AC=16;AF=1;AN=22;AO=356;CIGAR=1X;DP=3773;DPB=358;DPRA=0;EPP=9.25633;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.9888;MQMR=42;NS=1;NUMALT=1;ODDS=492.63;PAIRED=0.997191;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=13190;QR=15;RO=1;RPL=178;RPP=3.0103;RPPR=5.18177;RPR=178;RUN=1;SAF=188;SAP=5.45016;SAR=168;SF=0,3,6,10,12,16,20,21,24,25,27;SRF=1;SRP=5.18177;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1138.9,-106.128,0:358:1:356:13190:15:1,356 . . 0/1:-474.134,0,-419.092:344:162:182:6713:6049:162,182 . . 0/1:-392.25,0,-387.025:303:150:153:5574:5523:150,153 . . . 1/1:-844.143,-79.773,0:267:0:265:9793:0:0,265 . 1/1:-1449.09,-134.768,0:453:1:452:16824:16:1,452 . . . 1/1:-966.647,-90.315,0:305:1:304:11261:15:1,304 . . . 0/1:-616.688,0,-604.255:463:228:234:8766:8621:228,234 0/1:-125.682,0,-362.332:188:130:58:2099:4840:130,58 . . 0/1:-294.155,0,-248.039:208:96:112:4147:3591:96,112 0/1:-602.928,0,-673.709:498:259:239:8712:9526:259,239 . 1/1:-1186.16,-116.198,0:386:0:386:13721:0:0,386 . . . . . . . . . +chr6 152671475 . A C 2590.38 . AB=0;ABP=0;AC=16;AF=1;AN=22;AO=99;CIGAR=1X;DP=1326;DPB=100;DPRA=0;EPP=24.0889;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=132.294;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3621;QR=38;RO=1;RPL=67;RPP=29.8795;RPPR=5.18177;RPR=32;RUN=1;SAF=39;SAP=12.6832;SAR=60;SF=0,3,6,10,12,16,20,21,24,25,27;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-310.708,-26.4485,0:100:1:99:3621:38:1,99 . . 0/1:-130.23,0,-150.461:111:59:52:1881:2131:59,52 . . 0/1:-138.394,0,-89.3753:87:35:52:1894:1332:35,52 . . . 1/1:-366.799,-34.9195,0:116:0:116:4224:0:0,116 . 1/1:-477.352,-46.0576,0:153:0:153:5514:0:0,153 . . . 1/1:-359.751,-28.2114,0:117:2:115:4263:77:2,115 . . . 0/1:-197.963,0,-141.312:132:57:75:2738:2084:57,75 0/1:-47.614,0,-118.967:66:45:21:775:1594:45,21 . . 0/1:-61.2641,0,-85.4899:55:31:24:894:1175:31,24 0/1:-266.171,0,-233.145:198:93:105:3758:3386:93,105 . 1/1:-598.972,-57.4967,0:191:0:191:6908:0:0,191 . . . . . . . . . +chr6 152671919 . GAAAAAAAAATGAGC GAAAAAAAAAATGAGC 2853.50 . AB=0;ABP=0;AC=16;AF=1;AN=22;AO=142;CIGAR=1M1I14M;DP=1812;DPB=171.2;DPRA=0;EPP=3.56081;EPPR=3.0103;GTI=0;LEN=1;MEANALT=4;MQM=41.9577;MQMR=42;NS=1;NUMALT=1;ODDS=150.404;PAIRED=0.978873;PAIREDR=1;PAO=1;PQA=30.3333;PQR=30.3333;PRO=1;QA=4816;QR=225;RO=6;RPL=126;RPP=188.044;RPPR=8.80089;RPR=16;RUN=1;SAF=52;SAP=25.092;SAR=90;SF=0,3,6,10,12,16,20,21,24,25,27;SRF=2;SRP=4.45795;SRR=4;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD 1/1:-400.114,-27.6943,0:160:6:142:4816:225:6,142 . . 0/1:-200.71,0,-215.641:170:83:82:2884:3048:83,82 . . 0/1:-133.205,0,-127.282:111:50:56:1905:1856:50,56 . . . 1/1:-456.499,-45.4815,0:164:2:154:5288:76:2,154 . 1/1:-542.397,-53.4361,0:202:1:183:6269:36:1,183 . . . 1/1:-472.062,-14.5111,0:183:12:161:5886:445:12,161 . . . 0/1:-217.342,0,-247.939:194:96:88:3169:3566:96,88 0/1:-17.4936,0,-207.728:93:75:17:514:2697:75,17 . . 0/1:-107.821,0,-185.478:122:69:51:1662:2562:69,51 0/1:-225.447,0,-239.753:196:94:94:3253:3429:94,94 . 1/1:-571.682,-51.9744,0:217:5:202:6747:188:5,202 . . . . . . . . . +chr6 152673147 . G A 3114.42 . AB=0;ABP=0;AC=16;AF=1;AN=22;AO=120;CIGAR=1X;DP=1761;DPB=120;DPRA=0;EPP=4.81986;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8417;MQMR=0;NS=1;NUMALT=1;ODDS=170.96;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4446;QR=0;RO=0;RPL=41;RPP=29.1404;RPPR=0;RPR=79;RUN=1;SAF=106;SAP=156.171;SAR=14;SF=0,3,6,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-383.528,-36.1236,0:120:0:120:4446:0:0,120 . . 0/1:-148.483,0,-173.993:126:67:58:2166:2458:67,58 . . 0/1:-195.836,0,-141.866:134:59:75:2755:2130:59,75 . . . 1/1:-451.647,-42.4452,0:141:0:141:5258:0:0,141 . 1/1:-668.382,-61.0978,0:210:1:208:7792:20:1,208 . . . 1/1:-423.745,-39.736,0:132:0:132:4921:0:0,132 . . . 0/1:-240.744,0,-237.982:184:91:92:3432:3390:91,92 0/1:-46.279,0,-261.238:118:92:26:938:3423:92,26 . . 0/1:-125.404,0,-84.0975:79:33:46:1721:1242:33,46 0/1:-300.781,0,-449.794:294:168:125:4504:6219:168,125 . 1/1:-700.537,-67.1297,0:223:0:223:8113:0:0,223 . . . . . . . . . +chr6 152675854 . A G 7133.03 . AB=0;ABP=0;AC=16;AF=1;AN=22;AO=341;CIGAR=1X;DP=4012;DPB=341;DPRA=0;EPP=6.99027;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9413;MQMR=0;NS=1;NUMALT=1;ODDS=477.332;PAIRED=0.994135;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=12319;QR=0;RO=0;RPL=80;RPP=211.631;RPPR=0;RPR=261;RUN=1;SAF=239;SAP=122.53;SAR=102;SF=0,3,6,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-1070.42,-102.651,0:341:0:341:12319:0:0,341 . . 0/1:-383.892,0,-441.19:328:172:155:5640:6233:172,155 . . 0/1:-286.967,0,-469.051:298:174:121:4314:6439:174,121 . . . 1/1:-957.754,-91.2121,0:303:0:303:11023:0:0,303 . 1/1:-1456.27,-138.775,0:462:0:461:16769:0:0,461 . . . 1/1:-1145.57,-107.167,0:356:0:356:13215:0:0,356 . . . 0/1:-581.063,0,-509.784:430:200:228:8172:7404:200,228 0/1:-86.1504,0,-509.376:246:192:54:1834:6709:192,54 . . 0/1:-226.309,0,-247.267:187:95:92:3245:3505:95,92 0/1:-577.827,0,-886.265:582:334:246:8674:12256:334,246 . 1/1:-1440.75,-135.843,0:479:3:476:16672:93:3,476 . . . . . . . . . +chr6 152679594 . A G 2786.02 . AB=0.509091;ABP=3.16823;AC=1;AF=0.5;AN=2;AO=112;CIGAR=1X;DP=220;DPB=220;DPRA=0;EPP=3.32051;EPPR=5.46589;GTI=0;LEN=1;MEANALT=2;MQM=41.8214;MQMR=41.9626;NS=1;NUMALT=1;ODDS=625.972;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4057;QR=3980;RO=107;RPL=56;RPP=3.0103;RPPR=6.44001;RPR=56;RUN=1;SAF=48;SAP=7.97367;SAR=64;SF=20;SRF=48;SRP=5.46589;SRR=59;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-285.79,0,-279.319:220:107:112:4057:3980:107,112 . . . . . . . . . . . . . . . . +chr6 152683413 . G T 6413.35 . AB=0;ABP=0;AC=20;AF=1;AN=24;AO=213;CIGAR=1X;DP=2873;DPB=213;DPRA=0;EPP=10.4422;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9812;MQMR=0;NS=1;NUMALT=1;ODDS=299.886;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7863;QR=0;RO=0;RPL=73;RPP=48.7743;RPPR=0;RPR=140;RUN=1;SAF=111;SAP=3.83607;SAR=102;SF=0,3,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-680.399,-64.1194,0:213:0:213:7863:0:0,213 . . 1/1:-757.217,-69.6829,0:236:1:235:8789:14:1,235 . . 1/1:-575.495,-53.8844,0:179:0:179:6661:0:0,179 . . 0/1:-188.053,0,-244.695:165:91:74:2768:3396:91,74 1/1:-734.679,-66.069,0:229:1:228:8540:29:1,228 . 1/1:-1122.01,-104.457,0:347:0:347:13008:0:0,347 . . . 1/1:-803.824,-75.2575,0:250:0:250:9303:0:0,250 . . . 0/1:-307.567,0,-454.888:290:168:122:4583:6268:168,122 0/1:-288.778,0,-60.8012:141:34:107:3823:1196:34,107 . . 0/1:-127.193,0,-167.758:116:63:51:1862:2342:63,51 1/1:-1199.51,-104.16,0:388:5:383:14024:142:5,383 . 1/1:-1003.64,-96.0286,0:319:0:319:11660:0:0,319 . . . . . . . . . +chr6 152686071 . A G 4356.47 . AB=0.536508;ABP=6.65699;AC=2;AF=0.5;AN=4;AO=169;CIGAR=1X;DP=642;DPB=315;DPRA=0;EPP=15.3581;EPPR=13.0645;GTI=0;LEN=1;MEANALT=1;MQM=41.6095;MQMR=41.8288;NS=1;NUMALT=1;ODDS=819.917;PAIRED=1;PAIREDR=0.993151;PAO=0;PQA=0;PQR=0;PRO=0;QA=6320;QR=5322;RO=146;RPL=76;RPP=6.72365;RPPR=10.2089;RPR=93;RUN=1;SAF=96;SAP=9.80739;SAR=73;SF=12,27;SRF=78;SRP=4.49761;SRR=68;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-450.452,0,-365.209:315:146:169:6320:5322:146,169 . . . . . . . . . . . . . . 0/1:-442.241,0,-375.129:327:148:178:6316:5468:148,178 . . . . . . . . . +chr6 152686090 . G T 4205.46 . AB=0.512903;ABP=3.4586;AC=2;AF=0.5;AN=4;AO=159;CIGAR=1X;DP=628;DPB=310;DPRA=0;EPP=9.03306;EPPR=22.6974;GTI=0;LEN=1;MEANALT=1;MQM=41.5849;MQMR=41.9603;NS=1;NUMALT=1;ODDS=872.652;PAIRED=1;PAIREDR=0.986755;PAO=0;PQA=0;PQR=0;PRO=0;QA=5948;QR=5556;RO=151;RPL=73;RPP=5.31834;RPPR=8.2017;RPR=86;RUN=1;SAF=87;SAP=6.08314;SAR=72;SF=12,27;SRF=84;SRP=7.1663;SRR=67;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-419.853,0,-388.848:310:151:159:5948:5556:151,159 . . . . . . . . . . . . . . 0/1:-439.493,0,-385.249:318:150:168:6247:5543:150,168 . . . . . . . . . +chr6 152694184 . T C 6024.00 . AB=0.494737;ABP=3.07887;AC=15;AF=0.5;AN=22;AO=141;CIGAR=1X;DP=3303;DPB=285;DPRA=0;EPP=5.61299;EPPR=10.3089;GTI=0;LEN=1;MEANALT=1;MQM=41.3688;MQMR=41.6181;NS=1;NUMALT=1;ODDS=776.12;PAIRED=0.985816;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5239;QR=5433;RO=144;RPL=16;RPP=185.984;RPPR=99.5202;RPR=125;RUN=1;SAF=74;SAP=3.76493;SAR=67;SF=0,3,6,10,12,16,20,21,24,25,27;SRF=79;SRP=5.96592;SRR=65;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-364.84,0,-380.027:285:144:141:5239:5433:144,141 . . 0/1:-418.803,0,-325.581:285:126:158:5850:4776:126,158 . . 0/1:-376.671,0,-277.664:249:109:140:5223:4078:109,140 . . . 1/1:-809.535,-74.9565,0:249:0:249:9399:0:0,249 . 1/1:-1178.43,-111.08,0:369:0:369:13766:0:0,369 . . . 1/1:-842.572,-77.6657,0:264:0:258:9790:0:0,258 . . . 0/1:-522.961,0,-374.106:342:150:192:7274:5563:150,192 0/1:-141.602,0,-413.566:218:150:67:2399:5552:150,67 . . 0/1:-188.806,0,-153.77:130:60:70:2634:2225:60,70 0/1:-613.779,0,-538.89:442:207:233:8633:7775:207,233 . 1/1:-1495.92,-139.847,0:470:1:468:17413:16:1,468 . . . . . . . . . +chr6 152694190 . T C 1777.11 . AB=0.533835;ABP=4.33278;AC=1;AF=0.5;AN=2;AO=71;CIGAR=1X;DP=133;DPB=133;DPRA=0;EPP=6.71098;EPPR=11.9764;GTI=0;LEN=1;MEANALT=1;MQM=41.9437;MQMR=42;NS=1;NUMALT=1;ODDS=348.594;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2670;QR=2346;RO=62;RPL=12;RPP=70.5706;RPPR=53.5846;RPR=59;RUN=1;SAF=38;SAP=3.7749;SAR=33;SF=24;SRF=31;SRP=3.0103;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-190.807,0,-162.944:133:62:71:2670:2346:62,71 . . . . . . . . . . . . +chr6 152697706 . C T 1647.77 . AB=0.493976;ABP=3.03646;AC=11;AF=0.5;AN=18;AO=41;CIGAR=1X;DP=868;DPB=83;DPRA=0;EPP=11.961;EPPR=22.1298;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9512;NS=1;NUMALT=1;ODDS=206.24;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1580;QR=1407;RO=41;RPL=27;RPP=11.961;RPPR=3.06326;RPR=14;RUN=1;SAF=17;SAP=5.60547;SAR=24;SF=0,3,5,6,9,20,21,24,25;SRF=16;SRP=7.30028;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-111.464,0,-97.7091:83:41:41:1580:1407:41,41 . . 0/1:-161.002,0,-125.077:110:50:60:2248:1818:50,60 . 1/1:-310.987,-28.7012,0:98:1:97:3605:39:1,97 0/1:-124.036,0,-69.4469:75:30:45:1692:1055:30,45 . . 1/1:-265.387,-24.6845,0:82:0:82:3070:0:0,82 . . . . . . . . . . 0/1:-144.358,0,-94.1692:92:39:53:1991:1402:39,53 0/1:-144.861,0,-52.3015:79:26:53:1945:868:26,53 . . 0/1:-76.8139,0,-87.971:64:34:30:1104:1228:34,30 0/1:-227.186,0,-237.66:185:95:90:3270:3371:95,90 . . . . . . . . . . . +chr6 152708310 . G A 3634.09 . AB=0.456019;ABP=10.2686;AC=4;AF=0.5;AN=8;AO=197;CIGAR=1X;DP=1426;DPB=432;DPRA=0;EPP=7.87131;EPPR=3.09346;GTI=0;LEN=1;MEANALT=1;MQM=41.5584;MQMR=41.9915;NS=1;NUMALT=1;ODDS=1144.4;PAIRED=0.989848;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7420;QR=8851;RO=235;RPL=102;RPP=3.55041;RPPR=35.1758;RPR=95;RUN=1;SAF=112;SAP=11.0459;SAR=85;SF=0,6,9,21;SRF=144;SRP=28.9663;SRR=91;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-506.227,0,-636.984:432:235:197:7420:8851:235,197 . . . . . 0/1:-479.754,0,-524.297:387:201:184:6900:7386:201,184 . . 0/1:-423.732,0,-480.517:344:182:162:6101:6776:182,162 . . . . . . . . . . . 0/1:-98.2106,0,-574.749:263:207:55:2048:7530:207,55 . . . . . . . . . . . . . . . +chr6 152712715 . GAAAAAAAAAAAAAAGAAAAAAAATTAATTCT GAAAAAAAAAAAAAGAAAAAAAATTAATTCT,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,GAAAAAAAAAAAAAAAAAAAAGAAAAAAAATTAATTCT 166.91 . AB=0.105263,0.368421;ABP=28.7251,5.8675;AC=2,1,1;AF=0.5,0.5;AN=6;AO=2,7;CIGAR=1X7I31M,1M6I31M;DP=140;DPB=22.6562;DPRA=0,0;EPP=3.0103,5.80219;EPPR=0;GTI=0;LEN=39,6;MEANALT=9,9;MQM=31.5,38.8571;MQMR=0;NS=1;NUMALT=2;ODDS=15.6224;PAIRED=1,1;PAIREDR=0;PAO=6,0;PQA=221,0;PQR=0;PRO=0;QA=57,209;QR=0;RO=0;RPL=1,2;RPP=3.0103,5.80219;RPPR=0;RPR=1,5;RUN=1,1;SAF=0,0;SAP=7.35324,18.2106;SAR=2,7;SF=9,24,27;SRF=0;SRP=0;SRR=0;TYPE=complex,ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs756232172;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2394;ExAC_nontcga_AFR=0.2407;ExAC_nontcga_AMR=0.2552;ExAC_nontcga_EAS=0.1537;ExAC_nontcga_FIN=0.2297;ExAC_nontcga_NFE=0.2494;ExAC_nontcga_OTH=0.1918;ExAC_nontcga_SAS=0.2257;AF=0.0238;AF_popmax=0.0660;AF_male=0.0222;AF_female=0.0259;AF_raw=0.0237;AF_afr=0.0660;AF_sas=.;AF_amr=0.0254;AF_eas=0;AF_nfe=0.0038;AF_fin=0.0408;AF_asj=0.0085;AF_oth=0.0226;non_topmed_AF_popmax=0.0658;non_neuro_AF_popmax=0.0677;non_cancer_AF_popmax=.;controls_AF_popmax=0.0633;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\x3d95.786451;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\x3d95.786451;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=rs768125041;CLNALLELEID=299476;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=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=0.0675;ExAC_nontcga_AFR=0.0559;ExAC_nontcga_AMR=0.0438;ExAC_nontcga_EAS=0.1367;ExAC_nontcga_FIN=0.0524;ExAC_nontcga_NFE=0.0522;ExAC_nontcga_OTH=0.0959;ExAC_nontcga_SAS=0.1107;AF=0.1755;AF_popmax=0.3706;AF_male=0.1763;AF_female=0.1745;AF_raw=0.1471;AF_afr=0.1675;AF_sas=.;AF_amr=0.0812;AF_eas=0.3706;AF_nfe=0.1627;AF_fin=0.1394;AF_asj=0.1949;AF_oth=0.1468;non_topmed_AF_popmax=0.3720;non_neuro_AF_popmax=0.3706;non_cancer_AF_popmax=.;controls_AF_popmax=0.3849;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\x3d95.786451;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 2/3:-37.6075,.,.,-16.0231,.,-13.6149,-21.5905,.,0,-19.4833:19:0:.,2,7:.,57,209:0:0,2,7 . . . . . . . . . . . . . . 0/1:-7.11502,0,-38.4409,.,.,.,.,.,.,.:22:14:4,.,.:143,.,.:515:14,4 . . 0/1:-34.7015,0,-185.658,.,.,.,.,.,.,.:99:67:23,.,.:731,.,.:2477:67,23 . . . . . . . . . +chr6 152746593 . A T 1352.09 . AB=0.448819;ABP=5.8999;AC=1;AF=0.5;AN=2;AO=57;CIGAR=1X;DP=127;DPB=127;DPRA=0;EPP=3.0484;EPPR=7.47733;GTI=0;LEN=1;MEANALT=1;MQM=41.3684;MQMR=41.7429;NS=1;NUMALT=1;ODDS=311.331;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2113;QR=2623;RO=70;RPL=22;RPP=9.44853;RPPR=20.8784;RPR=35;RUN=1;SAF=26;SAP=3.9627;SAR=31;SF=0;SRF=34;SRP=3.13438;SRR=36;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-142.316,0,-187.749:127:70:57:2113:2623:70,57 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152751218 . ATAGTAGA ATAGA 274.96 . AB=0.44;ABP=3.79203;AC=7;AF=0.5;AN=14;AO=11;CIGAR=1M3D4M;DP=197;DPB=21.125;DPRA=0;EPP=12.6832;EPPR=18.5208;GTI=0;LEN=3;MEANALT=1;MQM=41.8182;MQMR=42;NS=1;NUMALT=1;ODDS=47.0446;PAIRED=1;PAIREDR=1;PAO=1;PQA=37;PQR=37;PRO=1;QA=402;QR=522;RO=14;RPL=4;RPP=4.78696;RPPR=3.63072;RPR=7;RUN=1;SAF=6;SAP=3.20771;SAR=5;SF=5,9,10,16,20,21,25;SRF=10;SRP=8.59409;SRR=4;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs71659863;CLNALLELEID=252202;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=0.1354;ExAC_nontcga_ALL=0.2254;ExAC_nontcga_AFR=0.2113;ExAC_nontcga_AMR=0.1462;ExAC_nontcga_EAS=0.4841;ExAC_nontcga_FIN=0.2234;ExAC_nontcga_NFE=0.2088;ExAC_nontcga_OTH=0.2219;ExAC_nontcga_SAS=0.1839;AF=0.1542;AF_popmax=0.3671;AF_male=0.1574;AF_female=0.1502;AF_raw=0.1548;AF_afr=0.1660;AF_sas=.;AF_amr=0.0875;AF_eas=0.3671;AF_nfe=0.1299;AF_fin=0.1639;AF_asj=0.1345;AF_oth=0.1271;non_topmed_AF_popmax=0.3684;non_neuro_AF_popmax=0.3671;non_cancer_AF_popmax=.;controls_AF_popmax=0.3879;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\x3d99.001284,98.832629;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-26.3184,0,-36.9298:25:14:11:402:522:14,11 . . . 0/1:-11.34,0,-26.2783:16:10:6:181:351:10,6 0/1:-44.6206,0,-18.8389:29:9:19:626:333:9,19 . . . . . 0/1:-32.2938,0,-5.46965:14:3:11:418:107:3,11 . . . 0/1:-39.1561,0,-74.9817:44:27:17:600:1014:27,17 0/1:-30.1884,0,-22.6934:22:9:13:417:333:9,13 . . . 0/1:-58.0914,0,-48.0338:47:20:27:857:740:20,27 . . . . . . . . . . . +chr6 152765726 . GAAAAAAAAAAACACGT GAAAAAAAAAACACGT 376.30 . AB=0.58;ABP=5.78978;AC=2;AF=0.5;AN=4;AO=29;CIGAR=1M1D15M;DP=94;DPB=48.0588;DPRA=0;EPP=24.6501;EPPR=10.1038;GTI=0;LEN=1;MEANALT=4;MQM=42;MQMR=40.8;NS=1;NUMALT=1;ODDS=58.7824;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1034;QR=536;RO=15;RPL=15;RPP=3.08518;RPPR=3.15506;RPR=14;RUN=1;SAF=9;SAP=12.0706;SAR=20;SF=0,21;SRF=4;SRP=10.1038;SRR=11;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs111322292;CLNALLELEID=299490;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=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=0.1587;ExAC_nontcga_ALL=0.2071;ExAC_nontcga_AFR=0.1683;ExAC_nontcga_AMR=0.2245;ExAC_nontcga_EAS=0.1840;ExAC_nontcga_FIN=0.1712;ExAC_nontcga_NFE=0.2320;ExAC_nontcga_OTH=0.2086;ExAC_nontcga_SAS=0.1698;AF=0.0374;AF_popmax=0.0489;AF_male=0.0375;AF_female=0.0373;AF_raw=0.0341;AF_afr=0.0216;AF_sas=.;AF_amr=0.0299;AF_eas=0.0039;AF_nfe=0.0489;AF_fin=0.0585;AF_asj=0.0289;AF_oth=0.0453;non_topmed_AF_popmax=0.0533;non_neuro_AF_popmax=0.0487;non_cancer_AF_popmax=.;controls_AF_popmax=0.0615;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\x3d98.871160;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-76.7487,0,-32.8802:50:15:29:1034:536:15,29 . . . . . . . . . . . . . . . . . . . . 0/1:-15.5986,0,-77.0622:44:29:9:311:1011:29,9 . . . . . . . . . . . . . . . +chr6 152771849 . G A 4698.22 . AB=0.457213;ABP=9.5141;AC=1;AF=0.5;AN=2;AO=187;CIGAR=1X;DP=409;DPB=409;DPRA=0;EPP=5.62303;EPPR=6.92286;GTI=0;LEN=1;MEANALT=1;MQM=41.9786;MQMR=42;NS=1;NUMALT=1;ODDS=1081.81;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7023;QR=8270;RO=222;RPL=127;RPP=55.1372;RPPR=43.0749;RPR=60;RUN=1;SAF=101;SAP=5.62303;SAR=86;SF=0;SRF=118;SRP=4.92746;SRR=104;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-483.401,0,-593.681:409:222:187:7023:8270:222,187 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152772264 . A G 4052.95 . AB=0;ABP=0;AC=10;AF=1;AN=18;AO=238;CIGAR=1X;DP=2476;DPB=238;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.5294;MQMR=0;NS=1;NUMALT=1;ODDS=334.543;PAIRED=0.978992;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=8733;QR=0;RO=0;RPL=140;RPP=19.1047;RPPR=0;RPR=98;RUN=1;SAF=135;SAP=12.3531;SAR=103;SF=0,5,6,9,10,16,20,21,25;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-749.627,-71.6451,0:238:0:238:8733:0:0,238 . . . . 0/1:-447.149,0,-429.913:344:168:176:6392:6211:168,176 0/1:-353.054,0,-242.81:236:100:135:4956:3654:100,135 . . 0/1:-278.89,0,-216.91:192:86:106:3925:3163:86,106 0/1:-319.571,0,-313.582:244:123:121:4569:4490:123,121 . . . . . 0/1:-393.057,0,-386.069:293:146:147:5583:5488:146,147 . . . 0/1:-397.934,0,-436.535:322:167:154:5811:6213:167,154 0/1:-299.681,0,-88.0547:161:44:115:3999:1563:44,115 . . . 0/1:-503.647,0,-615.059:446:238:208:7518:8759:238,208 . . . . . . . . . . . +chr6 152777095 . A C 2238.85 . AB=0.473404;ABP=4.16534;AC=1;AF=0.5;AN=2;AO=89;CIGAR=1X;DP=188;DPB=188;DPRA=0;EPP=7.13366;EPPR=9.34924;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=515.515;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3318;QR=3713;RO=99;RPL=37;RPP=8.49998;RPPR=4.08507;RPR=52;RUN=1;SAF=43;SAP=3.22989;SAR=46;SF=0;SRF=51;SRP=3.20771;SRR=48;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-231.434,0,-264.762:188:99:89:3318:3713:99,89 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr6 152784602 . G A 1864.84 . AB=0.443182;ABP=7.94546;AC=1;AF=0.5;AN=2;AO=78;CIGAR=1X;DP=176;DPB=176;DPRA=0;EPP=4.01252;EPPR=3.10078;GTI=0;LEN=1;MEANALT=3;MQM=41.7051;MQMR=41.7604;NS=1;NUMALT=1;ODDS=429.395;PAIRED=1;PAIREDR=0.989583;PAO=0;PQA=0;PQR=0;PRO=0;QA=2898;QR=3595;RO=96;RPL=56;RPP=35.1926;RPPR=26.1727;RPR=22;RUN=1;SAF=32;SAP=8.46682;SAR=46;SF=16;SRF=43;SRP=5.27225;SRR=53;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=SYNE1;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=SYNE1:NM_033071:exon19:c.C2004T:p.N668N,SYNE1:NM_182961:exon19:c.C1983T:p.N661N;1000g2015aug_all=0.000599042;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149670417;CLNALLELEID=192153;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=0.0057;ExAC_nontcga_ALL=0.0031;ExAC_nontcga_AFR=0.0009;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0017;ExAC_nontcga_NFE=0.0055;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0033;AF_popmax=0.0048;AF_male=0.0031;AF_female=0.0035;AF_raw=0.0033;AF_afr=0.0011;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0048;AF_fin=0.0037;AF_asj=0;AF_oth=0.0046;non_topmed_AF_popmax=0.0041;non_neuro_AF_popmax=0.0047;non_cancer_AF_popmax=.;controls_AF_popmax=0.0041;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\x3d99.418957;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-197.166,0,-258.179:176:96:78:2898:3595:96,78 . . . . . . . . . . . . . . . . . . . . +chr6 152793412 . C A 1942.50 . AB=0;ABP=0;AC=16;AF=1;AN=22;AO=112;CIGAR=1X;DP=1078;DPB=112;DPRA=0;EPP=87.4651;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.8125;MQMR=0;NS=1;NUMALT=1;ODDS=159.87;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=4238;QR=0;RO=0;RPL=69;RPP=16.1167;RPPR=0;RPR=43;RUN=1;SAF=68;SAP=14.1779;SAR=44;SF=0,3,5,6,9,10,16,20,21,24,25;SRF=0;SRP=0;SRR=0;TYPE=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:GL:DP:RO:AO:QA:QR:AD 1/1:-365.895,-33.7154,0:112:0:112:4238:0:0,112 . . 1/1:-254.95,-24.0824,0:81:0:80:2948:0:0,80 . 0/1:-128.121,0,-139.266:104:53:51:1866:1967:53,51 0/1:-150.155,0,-106.224:99:44:55:2081:1582:44,55 . . 0/1:-67.9197,0,-83.4187:56:30:26:977:1160:30,26 0/1:-142.477,0,-114.13:105:47:56:2022:1705:47,56 . . . . . 0/1:-124.117,0,-105.824:85:40:45:1735:1520:40,45 . . . 1/1:-359.459,-32.8123,0:109:0:109:4165:0:0,109 1/1:-291.573,-27.0927,0:90:0:90:3369:0:0,90 . . 1/1:-202.981,-18.5707,0:67:1:66:2361:16:1,66 0/1:-165.681,0,-276.442:170:102:68:2569:3786:102,68 . . . . . . . . . . . +chr6 152793572 . TAAA AAAG,TAAG 2160.64 . AB=0.442857,0.55;ABP=6.98099,6.05036;AC=9,1;AF=0.5,0.5;AN=18;AO=62,77;CIGAR=1X2M1X,3M1X;DP=1386;DPB=141.25;DPRA=0,0;EPP=4.27115,15.4469;EPPR=0;GTI=0;LEN=4,1;MEANALT=3,3;MQM=41.3387,41.7532;MQMR=0;NS=1;NUMALT=2;ODDS=325.782;PAIRED=0.983871,1;PAIREDR=0;PAO=2.5,0.5;PQA=49.5,19.5;PQR=39;PRO=1;QA=2262,2886;QR=0;RO=0;RPL=45,60;RPP=30.4689,55.1538;RPPR=0;RPR=17,17;RUN=1,1;SAF=19,34;SAP=23.184,5.29458;SAR=43,43;SF=0,5,6,9,10,16,20,21,25;SRF=0;SRP=0;SRR=0;TYPE=complex,snp;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=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277318;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=Name\x3dENSR00000809955|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.277318;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/2:-397.465,-221.842,-205.025,-173.683,0,-152.953:140:0:62,77:2262,2886:0:0,62,77 . . . . 0/1:-126.956,0,-258.786,.,.,.:148:94:49,.:1796,.:3526:94,49 0/1:-141.114,0,-102.558,.,.,.:97:41:55,.:1955,.:1511:41,55 . . 0/1:-158.548,0,-135.721,.,.,.:120:53:64,.:2221,.:1970:53,64 0/1:-186.377,0,-152.752,.,.,.:133:59:71,.:2600,.:2228:59,71 . . . . . 0/1:-215.895,0,-170.2,.,.,.:147:66:80,.:2932,.:2489:66,80 . . . 0/1:-280.35,0,-191.427,.,.,.:190:79:106,.:3834,.:2853:79,106 0/1:-162.272,0,-71.3693,.,.,.:96:32:61,.:2154,.:1144:32,61 . . . 0/1:-416.179,0,-399.231,.,.,.:315:152:160,.:5736,.:5640:152,160 . . . . . . . . . . . +chr6 152809527 . A T 1251.89 . AB=0;ABP=0;AC=10;AF=1;AN=18;AO=86;CIGAR=1X;DP=770;DPB=86;DPRA=0;EPP=3.91929;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.9767;MQMR=0;NS=1;NUMALT=1;ODDS=123.826;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3206;QR=0;RO=0;RPL=34;RPP=11.1912;RPPR=0;RPR=52;RUN=1;SAF=50;SAP=7.95924;SAR=36;SF=0,5,6,9,10,16,20,21,25;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-277.579,-25.8886,0:86:0:86:3206:0:0,86 . . . . 0/1:-88.2694,0,-116.725:78:44:34:1289:1617:44,34 0/1:-82.682,0,-131.602:81:48:33:1234:1800:48,33 . . 0/1:-113.246,0,-83.7793:78:35:43:1575:1231:35,43 0/1:-106.19,0,-81.4145:70:31:39:1465:1182:31,39 . . . . . 0/1:-89.507,0,-100.498:72:38:34:1280:1410:38,34 . . . 0/1:-118.385,0,-127.812:93:49:44:1695:1796:49,44 0/1:-150.043,0,-57.0262:80:26:54:2006:929:26,54 . . . 0/1:-162.178,0,-183.35:132:70:62:2341:2571:70,62 . . . . . . . . . . . +chr6 152847284 . A G 1278.96 . AB=0.427481;ABP=8.99428;AC=1;AF=0.5;AN=2;AO=56;CIGAR=1X;DP=131;DPB=131;DPRA=0;EPP=3.16541;EPPR=3.27088;GTI=0;LEN=1;MEANALT=1;MQM=41.9643;MQMR=42;NS=1;NUMALT=1;ODDS=294.492;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2006;QR=2743;RO=75;RPL=21;RPP=10.6105;RPPR=18.3264;RPR=35;RUN=1;SAF=28;SAP=3.0103;SAR=28;SF=20;SRF=40;SRP=3.73412;SRR=35;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . 0/1:-135.342,0,-199.495:131:75:56:2006:2743:75,56 . . . . . . . . . . . . . . . . +chr6 152847335 . G A 956.12 . AB=0.634921;ABP=12.9715;AC=7;AF=0.5;AN=14;AO=40;CIGAR=1X;DP=522;DPB=63;DPRA=0;EPP=16.9077;EPPR=10.6577;GTI=0;LEN=1;MEANALT=1;MQM=41.55;MQMR=41.1739;NS=1;NUMALT=1;ODDS=102.87;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1495;QR=827;RO=23;RPL=26;RPP=10.8276;RPPR=10.6577;RPR=14;RUN=1;SAF=18;SAP=3.87889;SAR=22;SF=3,9,10,16,21,24,25;SRF=13;SRP=3.86001;SRR=10;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-110.363,0,-52.6014:63:23:40:1495:827:23,40 . . . . . 0/1:-82.3375,0,-77.0179:61:30:31:1159:1097:30,31 0/1:-110.582,0,-29.2819:54:15:39:1464:522:15,39 . . . . . 0/1:-116.025,0,-125.413:91:47:44:1657:1797:47,44 . . . . 0/1:-55.7627,0,-110.12:66:42:24:869:1494:42,24 . . 0/1:-48.4566,0,-75.3281:47:27:20:717:1033:27,20 0/1:-207.337,0,-164.854:140:64:76:2892:2400:64,76 . . . . . . . . . . . +chr7 81579832 . TAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC TAAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC 204.75 . AB=0.458333;ABP=3.37221;AC=1;AF=0.5;AN=2;AO=11;CIGAR=1M1I34M;DP=24;DPB=24.6286;DPRA=0;EPP=7.94546;EPPR=3.0103;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=47.1448;PAIRED=1;PAIREDR=1;PAO=2;PQA=64.5;PQR=64.5;PRO=2;QA=406;QR=422;RO=12;RPL=6;RPP=3.20771;RPPR=14.5915;RPR=5;RUN=1;SAF=3;SAP=7.94546;SAR=8;SF=16;SRF=4;SRP=5.9056;SRR=8;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . 0/1:-26.1018,0,-27.6835:24:12:11:406:422:12,11 . . . . . . . . . . . . . . . . . . . . +chr7 81588636 . G A 4277.57 . AB=0;ABP=0;AC=5;AF=1;AN=6;AO=194;CIGAR=1X;DP=500;DPB=194;DPRA=0;EPP=15.9496;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=273.546;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7355;QR=0;RO=0;RPL=73;RPP=28.7993;RPPR=0;RPR=121;RUN=1;SAF=109;SAP=9.45756;SAR=85;SF=12,20,21;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 1/1:-635.553,-58.3998,0:194:0:194:7355:0:0,194 . . . . . . . 1/1:-606.621,-56.2926,0:187:0:187:7051:0:0,187 0/1:-71.0241,0,-236.9:119:86:33:1229:3134:86,33 . . . . . . . . . . . . . . . +chr7 81591716 . T G 1729.07 . AB=0;ABP=0;AC=5;AF=1;AN=6;AO=88;CIGAR=1X;DP=205;DPB=89;DPRA=0;EPP=3.109;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=41.9773;MQMR=42;NS=1;NUMALT=1;ODDS=121.435;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3280;QR=18;RO=1;RPL=40;RPP=4.58955;RPPR=5.18177;RPR=48;RUN=1;SAF=31;SAP=19.6912;SAR=57;SF=12,20,21;SRF=0;SRP=5.18177;SRR=1;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 1/1:-281.588,-24.9934,0:89:1:88:3280:18:1,88 . . . . . . . 1/1:-216.607,-20.169,0:67:0:67:2531:0:0,67 0/1:-35.1251,0,-94.3221:49:33:16:572:1277:33,16 . . . . . . . . . . . . . . . +chr7 81593454 . G A 1104.55 . AB=0.556452;ABP=6.44263;AC=8;AF=0.5;AN=16;AO=69;CIGAR=1X;DP=801;DPB=124;DPRA=0;EPP=3.29354;EPPR=4.94488;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=297.618;PAIRED=0.985507;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2603;QR=2059;RO=55;RPL=42;RPP=10.0912;RPPR=23.8959;RPR=27;RUN=1;SAF=24;SAP=16.8888;SAR=45;SF=0,3,5,6,9,21,24,27;SRF=14;SRP=31.7922;SRR=41;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-187.728,0,-140.902:124:55:69:2603:2059:55,69 . . 0/1:-137.353,0,-116.876:96:44:52:1915:1686:44,52 . 0/1:-100.767,0,-156.459:98:57:41:1513:2148:57,41 0/1:-83.8439,0,-99.0782:70:38:32:1213:1385:38,32 . . 0/1:-92.964,0,-119.836:80:44:36:1350:1662:44,36 . . . . . . . . . . . 0/1:-18.616,0,-157.731:67:55:12:445:2052:55,12 . . 0/1:-73.4816,0,-97.5047:64:36:28:1070:1346:36,28 . . 0/1:-259.957,0,-268.366:202:103:99:3714:3800:103,99 . . . . . . . . . +chr7 81603870 . TGAAAAAAAAACATTT TGAAAAAAAAAAACATTT 104.84 . AB=0.388889;ABP=4.9405;AC=1;AF=0.5;AN=2;AO=7;CIGAR=2M2I14M;DP=18;DPB=18.875;DPRA=0;EPP=5.80219;EPPR=22.5536;GTI=0;LEN=2;MEANALT=2;MQM=41.7143;MQMR=42;NS=1;NUMALT=1;ODDS=24.1401;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=229;QR=327;RO=9;RPL=5;RPP=5.80219;RPPR=3.25157;RPR=2;RUN=1;SAF=3;SAP=3.32051;SAR=4;SF=9;SRF=5;SRP=3.25157;SRR=4;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-15.3751,0,-23.73:18:9:7:229:327:9,7 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 81603871 . GAAAAAAAAACATTT GAAAAAAAAAAACATTT 239.70 . AB=0.352941;ABP=6.20364;AC=2;AF=0.5;AN=4;AO=6;CIGAR=1M2I14M;DP=59;DPB=18.1333;DPRA=0;EPP=4.45795;EPPR=14.8328;GTI=0;LEN=2;MEANALT=3;MQM=41.6667;MQMR=42;NS=1;NUMALT=1;ODDS=20.3069;PAIRED=1;PAIREDR=1;PAO=1;PQA=38;PQR=0;PRO=0;QA=175;QR=320;RO=9;RPL=3;RPP=3.0103;RPPR=3.25157;RPR=3;RUN=1;SAF=1;SAP=8.80089;SAR=5;SF=5,27;SRF=4;SRP=3.25157;SRR=5;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-13.7985,0,-23.1953:17:9:6:175:320:9,6 . . . . . . . . . . . . . . . . . . . . . 0/1:-45.6313,0,-35.0455:42:15:23:666:547:15,23 . . . . . . . . . +chr7 81620630 . C T 1203.59 . AB=0.485437;ABP=3.20004;AC=1;AF=0.5;AN=2;AO=50;CIGAR=1X;DP=103;DPB=103;DPRA=0;EPP=14.1282;EPPR=7.96781;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=270.701;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1905;QR=1924;RO=53;RPL=43;RPP=59.2949;RPPR=101.382;RPR=7;RUN=1;SAF=26;SAP=3.18402;SAR=24;SF=0;SRF=30;SRP=5.01789;SRR=23;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;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=Name\x3dOREG1270320|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-133.56,0,-136.116:103:53:50:1905:1924:53,50 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 81634822 . GAAAAAAAAAAAAAAGCTT GAAAAAAAAAAAAAGCTT 209.32 . AB=0.141414;ABP=113.58;AC=6;AF=0.5;AN=12;AO=14;CIGAR=1M1D17M;DP=542;DPB=97.9474;DPRA=0;EPP=8.59409;EPPR=4.31318;GTI=0;LEN=1;MEANALT=14;MQM=42;MQMR=40.9833;NS=1;NUMALT=1;ODDS=15.219;PAIRED=1;PAIREDR=0.95;PAO=0;PQA=0;PQR=0;PRO=0;QA=470;QR=2061;RO=60;RPL=8;RPP=3.63072;RPPR=3.58936;RPR=6;RUN=1;SAF=6;SAP=3.63072;SAR=8;SF=3,9,10,16,20,21;SRF=25;SRP=6.62942;SRR=35;TYPE=del;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-18.9145,0,-156.01:99:60:14:470:2061:60,14 . . . . . 0/1:-18.5556,0,-69.8738:57:26:10:337:920:26,10 0/1:-13.7164,0,-143.061:108:53:13:382:1867:53,13 . . . . . 0/1:-16.6876,0,-121.224:80:45:13:388:1593:45,13 . . . 0/1:-94.3476,0,-105.373:128:43:45:1379:1504:43,45 0/1:-17.2061,0,-81.1745:70:32:13:348:1106:32,13 . . . . . . . . . . . . . . . +chr7 81641570 . GAAAAAAAAAAAAAGTCG GAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAAGTCG 196.30 . AB=0.142857;ABP=111.584;AC=4,3,5;AF=0.5;AN=16;AO=14;CIGAR=1M1D16M;DP=844;DPB=96.4444;DPRA=0;EPP=5.49198;EPPR=30.7823;GTI=0;LEN=1;MEANALT=18;MQM=42;MQMR=41.2456;NS=1;NUMALT=1;ODDS=20.0122;PAIRED=1;PAIREDR=0.964912;PAO=0.333333;PQA=4.66667;PQR=4.66667;PRO=0.333333;QA=493;QR=1959;RO=57;RPL=9;RPP=5.49198;RPPR=16.763;RPR=5;RUN=1;SAF=10;SAP=8.59409;SAR=4;SF=3,6,9,10,12,16,25,27;SRF=37;SRP=14.02;SRR=20;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=ncRNA_intronic;Gene.refGene=LOC101927356;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs776219864;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2657;ExAC_nontcga_AFR=0.1934;ExAC_nontcga_AMR=0.2415;ExAC_nontcga_EAS=0.2389;ExAC_nontcga_FIN=0.3093;ExAC_nontcga_NFE=0.2828;ExAC_nontcga_OTH=0.2435;ExAC_nontcga_SAS=0.2597;AF=0.0070;AF_popmax=0.0190;AF_male=0.0068;AF_female=0.0073;AF_raw=0.0127;AF_afr=0.0027;AF_sas=.;AF_amr=0.0190;AF_eas=0;AF_nfe=0.0060;AF_fin=0.0562;AF_asj=0.0084;AF_oth=0.0134;non_topmed_AF_popmax=0.0203;non_neuro_AF_popmax=0.0082;non_cancer_AF_popmax=.;controls_AF_popmax=0.025;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=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-20.7227,0,-148.076,.,.,.,.,.,.,.:98:57:14,.,.:493,.,.:1959:57,14 . . 2/3:-20.5091,.,.,-10.8195,.,-6.30403,-15.7503,.,0,-10.9338:60:0:.,9,10:.,223,170:0:0,9,10 . . 3/3:-23.3751,.,.,.,.,.,-5.41854,.,.,0:51:0:.,.,14:.,.,280:0:0,14 2/3:-37.6585,.,.,-15.0169,.,-10.2004,-25.8211,.,0,-21.9077:69:0:.,12,9:.,346,212:0:0,12,9 . 0/1:-21.6744,0,-211.072,.,.,.,.,.,.,.:153:80:18,.,.:605,.,.:2778:80,18 . . . 0/1:-17.2783,0,-125.333,.,.,.,.,.,.,.:82:49:11,.,.:406,.,.:1699:49,11 . . . . . . . . 2/3:-77.9664,.,.,-39.4771,.,-37.0327,-38.1167,.,0,-34.1672:168:3:.,22,27:.,609,660:102:3,22,27 . 0/1:-15.9371,0,-119.027,.,.,.,.,.,.,.:163:45:10,.,.:374,.,.:1541:45,10 . . . . . . . . . +chr7 81667468 . C T 876.83 . AB=0.417582;ABP=8.37933;AC=1;AF=0.5;AN=2;AO=38;CIGAR=1X;DP=91;DPB=91;DPRA=0;EPP=5.06748;EPPR=4.03458;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.6604;NS=1;NUMALT=1;ODDS=201.898;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1402;QR=1889;RO=53;RPL=19;RPP=3.0103;RPPR=6.32897;RPR=19;RUN=1;SAF=23;SAP=6.66752;SAR=15;SF=21;SRF=25;SRP=3.37904;SRR=28;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-94.5279,0,-136.433:91:53:38:1402:1889:53,38 . . . . . . . . . . . . . . . +chr7 81695842 . TAAAAAAAAAAAAAAAAGAGAGATATT TAAAAAAAAAAAAAAAAAGAGAGATATT,TAAAAAAAAAAAAAAAGAGAGATATT 86.41 . AB=0.178571;ABP=28.1373;AC=2,5;AF=0.5;AN=14;AO=5;CIGAR=1M1D25M;DP=347;DPB=28.2222;DPRA=0;EPP=3.44459;EPPR=8.80089;GTI=0;LEN=1;MEANALT=12;MQM=38;MQMR=39;NS=1;NUMALT=1;ODDS=12.651;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=155;QR=221;RO=6;RPL=1;RPP=6.91895;RPPR=8.80089;RPR=4;RUN=1;SAF=1;SAP=6.91895;SAR=4;SF=9,12,16,20,21,25,27;SRF=0;SRP=16.0391;SRR=6;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=CACNA2D1;GeneDetail.refGene=NM_000722:exon8:c.659-2->T\x3bNM_001302890:exon8:c.659-2->T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370103843;CLNALLELEID=395785;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=0.0351;ExAC_nontcga_AFR=0.0620;ExAC_nontcga_AMR=0.0208;ExAC_nontcga_EAS=0.0234;ExAC_nontcga_FIN=0.0239;ExAC_nontcga_NFE=0.0286;ExAC_nontcga_OTH=0.0441;ExAC_nontcga_SAS=0.0464;AF=0.1605;AF_popmax=0.2635;AF_male=0.1669;AF_female=0.1521;AF_raw=0.1048;AF_afr=0.2635;AF_sas=.;AF_amr=0.0719;AF_eas=0.1443;AF_nfe=0.0939;AF_fin=0.0588;AF_asj=0.1149;AF_oth=0.1368;non_topmed_AF_popmax=0.2634;non_neuro_AF_popmax=0.2626;non_cancer_AF_popmax=.;controls_AF_popmax=0.2694;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\x3d97.842424;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs770976375;CLNALLELEID=396051;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=0.3269;ExAC_nontcga_AFR=0.2160;ExAC_nontcga_AMR=0.3043;ExAC_nontcga_EAS=0.3119;ExAC_nontcga_FIN=0.4159;ExAC_nontcga_NFE=0.3287;ExAC_nontcga_OTH=0.3627;ExAC_nontcga_SAS=0.3445;AF=0.0705;AF_popmax=0.1346;AF_male=0.0722;AF_female=0.0684;AF_raw=0.0546;AF_afr=0.1346;AF_sas=.;AF_amr=0.0915;AF_eas=0.0252;AF_nfe=0.0213;AF_fin=0.2735;AF_asj=0.0270;AF_oth=0.0473;non_topmed_AF_popmax=0.1352;non_neuro_AF_popmax=0.1348;non_cancer_AF_popmax=.;controls_AF_popmax=0.2083;Kaviar_AF=0.0988021;Kaviar_AC=15275;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.842424;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/2:-10.2585,.,.,0,.,-14.8816:28:6:.,5:.,155:221:6,5 . . 0/2:-15.412,.,.,0,.,-34.0755:64:15:.,9:.,263:536:15,9 . . . 0/2:-12.2221,.,.,0,.,-11.8409:20:5:.,6:.,192:184:5,6 . . . 0/1:-13.0414,0,-29.6145,.,.,.:51:12:8,.:236,.:426:12,8 0/2:-8.67072,.,.,0,.,-31.601:22:12:.,5:.,157:418:12,5 . . . 0/2:-18.0282,.,.,0,.,-89.5211:98:37:.,12:.,376:1244:37,12 . 0/1:-23.586,0,-26.7438,.,.,.:64:11:12,.:360,.:399:11,12 . . . . . . . . . +chr7 81765996 . CAAAAAAAAAAGAACGC CAAAAAAAAAAAGAACGC,CAAAAAAAAAAGAATGC 796.98 . AB=0.429688;ABP=8.50684;AC=1,1;AF=0.5;AN=4;AO=55;CIGAR=14M1X2M;DP=224;DPB=128;DPRA=0;EPP=3.99733;EPPR=4.40625;GTI=0;LEN=1;MEANALT=7;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=314.589;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2041;QR=2077;RO=56;RPL=26;RPP=3.36563;RPPR=18.5208;RPR=29;RUN=1;SAF=28;SAP=3.04978;SAR=27;SF=3,21;SRF=31;SRP=4.40625;SRR=25;TYPE=snp;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;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=CACNA2D1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs370574759;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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;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=3.215e-05;AF_popmax=6.535e-05;AF_male=5.776e-05;AF_female=0;AF_raw=3.183e-05;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=6.535e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=9.107e-05;non_neuro_AF_popmax=7.411e-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\x3d95.696560;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/2:-142.794,.,.,0,.,-147.14:128:56:.,55:.,2041:2077:56,55 . . . . . . . . . . . . . . . . . 0/1:-32.0772,0,-155.372,.,.,.:96:57:22,.:635,.:2065:57,22 . . . . . . . . . . . . . . . +chr7 81799966 . G A 1632.62 . AB=0.585586;ABP=10.0725;AC=1;AF=0.5;AN=2;AO=65;CIGAR=1X;DP=111;DPB=111;DPRA=0;EPP=23.8898;EPPR=7.73089;GTI=0;LEN=1;MEANALT=1;MQM=41.7231;MQMR=42;NS=1;NUMALT=1;ODDS=234.848;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2444;QR=1677;RO=46;RPL=51;RPP=48.7448;RPPR=34.9215;RPR=14;RUN=1;SAF=39;SAP=8.65613;SAR=26;SF=3;SRF=26;SRP=4.70971;SRR=20;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-177.549,0,-112.551:111:46:65:2444:1677:46,65 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 81799990 . T C 1376.79 . AB=0.651163;ABP=20.0791;AC=1;AF=0.5;AN=2;AO=56;CIGAR=1X;DP=86;DPB=86;DPRA=0;EPP=71.4117;EPPR=36.0317;GTI=0;LEN=1;MEANALT=2;MQM=41.6786;MQMR=42;NS=1;NUMALT=1;ODDS=128.256;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2083;QR=1082;RO=29;RPL=38;RPP=18.5208;RPPR=15.6647;RPR=18;RUN=1;SAF=31;SAP=4.40625;SAR=25;SF=3;SRF=17;SRP=4.88226;SRR=12;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-154.749,0,-68.1031:86:29:56:2083:1082:29,56 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 81799996 . C G 1412.33 . AB=0.674157;ABP=26.4573;AC=1;AF=0.5;AN=2;AO=60;CIGAR=1X;DP=89;DPB=89;DPRA=0;EPP=79.5909;EPPR=30.0414;GTI=0;LEN=1;MEANALT=1;MQM=41.6667;MQMR=42;NS=1;NUMALT=1;ODDS=129.715;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2143;QR=1104;RO=29;RPL=39;RPP=14.7363;RPPR=19.8579;RPR=21;RUN=1;SAF=32;SAP=3.58936;SAR=28;SF=3;SRF=17;SRP=4.88226;SRR=12;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-159.354,0,-68.9816:89:29:60:2143:1104:29,60 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 81964578 . GAAAAAAAAAACTAG GAAAAAAAAAAACTAG 701.46 . AB=0;ABP=0;AC=10;AF=1;AN=18;AO=52;CIGAR=1M1I14M;DP=616;DPB=67.3333;DPRA=0;EPP=31.2394;EPPR=3.73412;GTI=0;LEN=1;MEANALT=5;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=42.8751;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1819;QR=113;RO=3;RPL=38;RPP=27.0635;RPPR=9.52472;RPR=14;RUN=1;SAF=25;SAP=3.17734;SAR=27;SF=3,6,9,12,16,20,21,25,27;SRF=1;SRP=3.73412;SRR=2;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD . . . 1/1:-148.361,-6.74187,0:63:3:52:1819:113:3,52 . . 0/1:-53.1447,0,-33.8499:37:14:21:728:507:14,21 . . 0/1:-19.0767,0,-36.5682:28:14:10:299:500:14,10 . . 0/1:-73.8746,0,-60.5912:66:26:31:1044:921:26,31 . . . 0/1:-45.5069,0,-43.0006:37:17:17:644:639:17,17 . . . 0/1:-76.6147,0,-96.957:79:38:33:1126:1369:38,33 0/1:-22.8019,0,-78.1804:42:29:12:402:1036:29,12 . . . 0/1:-157.642,0,-125.337:127:51:64:2203:1833:51,64 . 0/1:-106.323,0,-185.067:137:72:51:1641:2551:72,51 . . . . . . . . . +chr7 91630620 . G T 4818.87 . AB=0.509728;ABP=3.22153;AC=11;AF=0.5;AN=18;AO=131;CIGAR=1X;DP=2526;DPB=257;DPRA=0;EPP=7.8008;EPPR=18.5208;GTI=0;LEN=1;MEANALT=1;MQM=41.855;MQMR=41.9841;NS=1;NUMALT=1;ODDS=747.737;PAIRED=0.984733;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4983;QR=4764;RO=126;RPL=95;RPP=60.7118;RPPR=9.90386;RPR=36;RUN=1;SAF=83;SAP=23.3161;SAR=48;SF=0,6,9,10,20,21,24,25,27;SRF=73;SRP=9.90386;SRR=53;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-351.693,0,-334.437:257:126:131:4983:4764:126,131 . . . . . 0/1:-394.413,0,-311.358:264:120:144:5483:4521:120,144 . . 0/1:-277.688,0,-324.552:228:121:107:4005:4559:121,107 0/1:-245.76,0,-321.03:215:119:95:3591:4455:119,95 . . . . . . . . . 0/1:-347.056,0,-470.009:308:173:135:5092:6514:173,135 0/1:-318.714,0,-289.938:234:113:121:4541:4161:113,121 . . 1/1:-542.747,-49.67,0:165:0:165:6288:0:0,165 1/1:-1442.69,-135.162,0:449:0:449:16742:0:0,449 . 0/1:-519.894,0,-539.42:406:205:201:7435:7712:205,201 . . . . . . . . . +chr7 91632306 . C T 4638.06 . AB=0;ABP=0;AC=23;AF=1;AN=26;AO=156;CIGAR=1X;DP=2355;DPB=157;DPRA=0;EPP=120.827;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9872;MQMR=0;NS=1;NUMALT=1;ODDS=220.867;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=5917;QR=0;RO=0;RPL=52;RPP=40.6492;RPPR=0;RPR=104;RUN=1;SAF=110;SAP=60.0254;SAR=46;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-511.381,-46.9607,0:157:0:156:5917:0:0,156 . . 0/1:-250.407,0,-250.576:193:96:97:3565:3573:96,97 . 0/1:-263.154,0,-203.56:177:79:98:3686:2969:79,98 1/1:-471.891,-44.2514,0:147:0:147:5445:0:0,147 . . 1/1:-392.222,-36.4246,0:121:0:121:4532:0:0,121 1/1:-419.22,-38.8329,0:129:0:129:4846:0:0,129 . 1/1:-746.478,-69.2369,0:230:0:230:8629:0:0,230 . . . 1/1:-521.236,-48.7669,0:162:0:162:6030:0:0,162 . . . 1/1:-625.226,-58.7009,0:195:0:195:7253:0:0,195 1/1:-438.665,-40.9401,0:136:0:136:5082:0:0,136 . . 1/1:-321.513,-29.802,0:99:0:99:3716:0:0,99 1/1:-1034.07,-96.3296,0:320:0:320:11945:0:0,320 . 0/1:-327.158,0,-432.187:289:161:128:4780:6014:161,128 . . . . . . . . . +chr7 91641928 . A G 2727.03 . AB=0.42029;ABP=10.6262;AC=11;AF=0.5;AN=18;AO=58;CIGAR=1X;DP=1497;DPB=138;DPRA=0;EPP=3.16006;EPPR=3.98746;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=303.749;PAIRED=0.965517;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2124;QR=3008;RO=80;RPL=37;RPP=12.5947;RPPR=3.44459;RPR=21;RUN=1;SAF=15;SAP=32.3626;SAR=43;SF=0,6,9,10,20,21,24,25,27;SRF=19;SRP=50.8913;SRR=61;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-142.763,0,-219.158:138:80:58:2124:3008:80,58 . . . . . 0/1:-150.992,0,-213.751:139:79:60:2226:2949:79,60 . . 0/1:-114.356,0,-177.627:114:67:47:1709:2446:67,47 0/1:-200.978,0,-156.403:142:63:78:2885:2306:63,78 . . . . . . . . . 0/1:-264.92,0,-221.163:188:86:101:3709:3207:86,101 0/1:-161.717,0,-134.376:116:54:62:2263:1945:54,62 . . 1/1:-262.744,-24.3834,0:81:0:81:3030:0:0,81 1/1:-944.857,-88.5028,0:294:0:294:10955:0:0,294 . 0/1:-326.248,0,-389.055:285:151:134:4771:5481:151,134 . . . . . . . . . +chr7 91643610 . G A 2262.27 . AB=0.47343;ABP=4.27961;AC=1;AF=0.5;AN=2;AO=98;CIGAR=1X;DP=207;DPB=207;DPRA=0;EPP=8.68272;EPPR=3.03022;GTI=0;LEN=1;MEANALT=1;MQM=41.3776;MQMR=41.6422;NS=1;NUMALT=1;ODDS=520.908;PAIRED=0.989796;PAIREDR=0.990826;PAO=0;PQA=0;PQR=0;PRO=0;QA=3548;QR=4013;RO=109;RPL=20;RPP=77.5494;RPPR=67.7361;RPR=78;RUN=1;SAF=55;SAP=6.20103;SAR=43;SF=5;SRF=58;SRP=3.98647;SRR=51;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=AKAP9:NM_005751:exon10:c.G3580A:p.A1194T,AKAP9:NM_147185:exon10:c.G3580A:p.A1194T;1000g2015aug_all=0.000399361;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs139965373;CLNALLELEID=178587;CLNDN=Ventricular_fibrillation|Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided;CLNDISDB=EFO:EFO_0004287,Human_Phenotype_Ontology:HP:0001663,MedGen:C0042510,SNOMED_CT:71908006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.105;SIFT_converted_rankscore=0.298;SIFT_pred=T;Polyphen2_HDIV_score=0.99;Polyphen2_HDIV_rankscore=0.670;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.868;Polyphen2_HVAR_rankscore=0.679;Polyphen2_HVAR_pred=P;LRT_score=0.004;LRT_converted_rankscore=0.348;LRT_pred=N;MutationTaster_score=0.853;MutationTaster_converted_rankscore=0.352;MutationTaster_pred=D;MutationAssessor_score=1.95;MutationAssessor_score_rankscore=0.526;MutationAssessor_pred=M;FATHMM_score=3.84;FATHMM_converted_rankscore=0.037;FATHMM_pred=T;PROVEAN_score=-1.27;PROVEAN_converted_rankscore=0.320;PROVEAN_pred=N;VEST3_score=0.499;VEST3_rankscore=0.572;MetaSVM_score=-1.141;MetaSVM_rankscore=0.013;MetaSVM_pred=T;MetaLR_score=0.024;MetaLR_rankscore=0.101;MetaLR_pred=T;M-CAP_score=0.013;M-CAP_rankscore=0.327;M-CAP_pred=T;REVEL_score=0.102;REVEL_rankscore=0.297;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.914;CADD_raw_rankscore=0.660;CADD_phred=25.0;DANN_score=0.997;DANN_rankscore=0.818;fathmm-MKL_coding_score=0.854;fathmm-MKL_coding_rankscore=0.442;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.578;Eigen-PC-raw=0.537;GenoCanyon_score=0.149;GenoCanyon_score_rankscore=0.174;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=4.28;GERP++_RS_rankscore=0.500;phyloP100way_vertebrate=3.759;phyloP100way_vertebrate_rankscore=0.547;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=10.134;SiPhy_29way_logOdds_rankscore=0.417;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0009;ExAC_nontcga_ALL=0.0004;ExAC_nontcga_AFR=0.0001;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=0.0002;AF=0.0003;AF_popmax=0.0024;AF_male=0.0004;AF_female=0.0001;AF_raw=0.0003;AF_afr=0;AF_sas=.;AF_amr=0.0024;AF_eas=0;AF_nfe=0.0003;AF_fin=0;AF_asj=0.0069;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=0.0004269;Kaviar_AC=66;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.404172;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-241.647,0,-283.062:207:109:98:3548:4013:109,98 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 91646406 . G A 1843.69 . AB=0.438202;ABP=8.91475;AC=1;AF=0.5;AN=2;AO=78;CIGAR=1X;DP=178;DPB=178;DPRA=0;EPP=19.0458;EPPR=51.4626;GTI=0;LEN=1;MEANALT=2;MQM=41.9744;MQMR=41.9798;NS=1;NUMALT=1;ODDS=424.525;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2876;QR=3544;RO=99;RPL=31;RPP=10.1372;RPPR=4.78696;RPR=47;RUN=1;SAF=52;SAP=21.8297;SAR=26;SF=25;SRF=58;SRP=9.34924;SRR=41;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-195.477,0,-254.946:178:99:78:2876:3544:99,78 . . . . . . . . . . . +chr7 91652178 . AAACT AAACAACT 4776.22 . AB=0.463235;ABP=6.20364;AC=11;AF=0.5;AN=18;AO=126;CIGAR=1M3I4M;DP=2742;DPB=349.4;DPRA=0;EPP=9.90386;EPPR=42.5068;GTI=0;LEN=3;MEANALT=4;MQM=41.5556;MQMR=42;NS=1;NUMALT=1;ODDS=709.661;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4633;QR=5388;RO=143;RPL=40;RPP=39.4772;RPPR=52.3468;RPR=86;RUN=1;SAF=67;SAP=4.11327;SAR=59;SF=0,6,9,10,20,21,24,25,27;SRF=75;SRP=3.75437;SRR=68;TYPE=ins;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:GL:DP:RO:AO:QA:QR:AD 0/1:-319.693,0,-385.662:272:143:126:4633:5388:143,126 . . . . . 0/1:-310.992,0,-281.507:237:110:122:4394:4059:110,122 . . 0/1:-201.806,0,-405.538:232:146:85:3137:5486:146,85 0/1:-340.933,0,-249.023:235:98:131:4729:3667:98,131 . . . . . . . . . 0/1:-417.765,0,-573.086:386:212:171:6165:7964:212,171 0/1:-232.775,0,-345.626:234:129:103:3486:4788:129,103 . . 1/1:-674.369,-64.1194,0:213:0:213:7784:0:0,213 1/1:-1510.82,-140.849,0:496:2:486:17524:69:2,486 . 0/1:-454.63,0,-668.487:437:249:185:6754:9216:249,185 . . . . . . . . . +chr7 91691601 . C T 3698.48 . AB=0.573604;ABP=12.2804;AC=11;AF=0.5;AN=18;AO=113;CIGAR=1X;DP=1834;DPB=197;DPRA=0;EPP=3.49071;EPPR=5.59539;GTI=0;LEN=1;MEANALT=1;MQM=41.9823;MQMR=42;NS=1;NUMALT=1;ODDS=445.813;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4181;QR=3013;RO=84;RPL=40;RPP=23.9371;RPPR=11.386;RPR=73;RUN=1;SAF=72;SAP=21.4774;SAR=41;SF=0,6,9,10,20,21,24,25,27;SRF=48;SRP=6.73282;SRR=36;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-303.035,0,-202.429:197:84:113:4181:3013:84,113 . . . . . 0/1:-256.034,0,-195.77:176:80:96:3563:2862:80,96 . . 0/1:-194.561,0,-150.635:133:60:73:2706:2195:60,73 0/1:-178.871,0,-211.687:148:80:68:2580:2954:80,68 . . . . . . . . . 0/1:-197.508,0,-315.492:198:118:80:2970:4330:118,80 0/1:-236.986,0,-212.602:181:88:93:3355:3067:88,93 . . 1/1:-432.637,-40.338,0:134:0:134:4994:0:0,134 1/1:-1243.14,-117.402,0:390:0:390:14384:0:0,390 . 0/1:-379.813,0,-304.262:277:124:153:5354:4463:124,153 . . . . . . . . . +chr7 91707197 . C T 942.46 . AB=0.516129;ABP=3.15039;AC=11;AF=0.5;AN=18;AO=32;CIGAR=1X;DP=570;DPB=62;DPRA=0;EPP=3.28173;EPPR=3.29983;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=40.8;NS=1;NUMALT=1;ODDS=143.947;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1219;QR=1062;RO=30;RPL=28;RPP=42.0968;RPPR=44.7026;RPR=4;RUN=1;SAF=13;SAP=5.45321;SAR=19;SF=0,6,9,10,20,21,24,25,27;SRF=13;SRP=4.16842;SRR=17;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-86.909,0,-72.7683:62:30:32:1219:1062:30,32 . . . . . 0/1:-42.0403,0,-73.2521:45:28:17:638:1025:28,17 . . 0/1:-40.7097,0,-58.9964:38:22:16:599:807:22,16 0/1:-80.9076,0,-19.6726:39:10:29:1066:356:10,29 . . . . . . . . . 0/1:-79.6026,0,-104.652:71:39:32:1162:1454:39,32 0/1:-68.8705,0,-87.7428:61:34:27:1007:1218:34,27 . . 1/1:-96.6011,-9.0309,0:30:0:30:1112:0:0,30 1/1:-338.642,-32.5112,0:108:0:108:3903:0:0,108 . 0/1:-114.478,0,-174.89:116:68:48:1716:2411:68,48 . . . . . . . . . +chr7 91708898 . A G 4112.96 . AB=0.517241;ABP=3.60933;AC=3;AF=0.5;AN=6;AO=120;CIGAR=1X;DP=913;DPB=232;DPRA=0;EPP=68.1545;EPPR=47.6806;GTI=0;LEN=1;MEANALT=1;MQM=41.9833;MQMR=42;NS=1;NUMALT=1;ODDS=657.281;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4544;QR=4250;RO=112;RPL=59;RPP=3.08268;RPPR=5.80219;RPR=61;RUN=1;SAF=61;SAP=3.08268;SAR=59;SF=3,5,27;SRF=60;SRP=4.25114;SRR=52;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-322.668,0,-297.137:232:112:120:4544:4250:112,120 . 0/1:-425.541,0,-317.132:278:122:156:5898:4644:122,156 . . . . . . . . . . . . . . . . . . . . . 0/1:-526.279,0,-537.754:403:203:200:7490:7624:203,200 . . . . . . . . . +chr7 91712698 . A G 3481.76 . AB=0.497487;ABP=3.02121;AC=11;AF=0.5;AN=18;AO=99;CIGAR=1X;DP=1785;DPB=199;DPRA=0;EPP=26.8965;EPPR=31.1526;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.82;NS=1;NUMALT=1;ODDS=570.635;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3708;QR=3804;RO=100;RPL=32;RPP=29.8795;RPPR=15.518;RPR=67;RUN=1;SAF=62;SAP=16.7191;SAR=37;SF=0,6,9,10,20,21,24,25,27;SRF=60;SRP=11.6962;SRR=40;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-260.862,0,-267.603:199:100:99:3708:3804:100,99 . . . . . 0/1:-165.576,0,-206.835:139:76:63:2398:2874:76,63 . . 0/1:-183.475,0,-185.893:142:71:71:2612:2642:71,71 0/1:-256.417,0,-165.29:160:66:94:3527:2468:66,94 . . . . . . . . . 0/1:-248.366,0,-322.552:215:118:97:3619:4486:118,97 0/1:-203.466,0,-204.857:158:79:79:2897:2945:79,79 . . 1/1:-388.044,-36.4246,0:121:0:121:4477:0:0,121 1/1:-1156.64,-106.973,0:361:1:360:13403:17:1,360 . 0/1:-391.913,0,-360.523:290:138:151:5528:5190:138,151 . . . . . . . . . +chr7 91713972 . C T 1468.97 . AB=0.530864;ABP=3.68051;AC=11;AF=0.5;AN=18;AO=43;CIGAR=1X;DP=811;DPB=81;DPRA=0;EPP=7.10075;EPPR=14.2105;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=205.322;PAIRED=1;PAIREDR=0.973684;PAO=0;PQA=0;PQR=0;PRO=0;QA=1619;QR=1406;RO=38;RPL=26;RPP=7.10075;RPPR=8.7247;RPR=17;RUN=1;SAF=26;SAP=7.10075;SAR=17;SF=0,6,9,10,20,21,24,25,27;SRF=26;SRP=14.2105;SRR=12;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-116.061,0,-97.757:81:38:43:1619:1406:38,43 . . . . . 0/1:-99.6528,0,-100.342:78:40:38:1421:1430:40,38 . . 0/1:-63.4499,0,-78.2695:54:29:25:917:1087:29,25 0/1:-94.3171,0,-115.589:81:44:37:1366:1623:44,37 . . . . . . . . . 0/1:-107.076,0,-136.286:93:50:43:1555:1898:50,43 0/1:-111.001,0,-99.1966:81:39:42:1559:1429:39,42 . . 1/1:-156.063,-14.7505,0:49:0:49:1811:0:0,49 1/1:-460.362,-42.8134,0:147:1:146:5337:15:1,146 . 0/1:-184.205,0,-185.373:147:73:74:2627:2671:73,74 . . . . . . . . . +chr7 91714092 . ATTTTTTTTTTTTTAACAG ATTTTTTTTTTTTAACAG 18.41 . AB=0.148515;ABP=111.39;AC=1;AF=0.5;AN=2;AO=15;CIGAR=1M1D17M;DP=101;DPB=100.263;DPRA=0;EPP=10.1038;EPPR=44.88;GTI=0;LEN=1;MEANALT=9;MQM=40.7333;MQMR=41.9437;NS=1;NUMALT=1;ODDS=4.22419;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=492;QR=2424;RO=71;RPL=11;RPP=10.1038;RPPR=6.71098;RPR=4;RUN=1;SAF=9;SAP=4.31318;SAR=6;SF=21;SRF=36;SRP=3.04088;SRR=35;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs762498230;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=0.2084;ExAC_nontcga_AFR=0.1685;ExAC_nontcga_AMR=0.2150;ExAC_nontcga_EAS=0.1408;ExAC_nontcga_FIN=0.0353;ExAC_nontcga_NFE=0.1936;ExAC_nontcga_OTH=0.2364;ExAC_nontcga_SAS=0.3548;AF=0.0086;AF_popmax=0.0264;AF_male=0.0086;AF_female=0.0085;AF_raw=0.0198;AF_afr=0.0059;AF_sas=.;AF_amr=0.0264;AF_eas=0.0013;AF_nfe=0.0049;AF_fin=0.0463;AF_asj=0.0292;AF_oth=0.0274;non_topmed_AF_popmax=0.0283;non_neuro_AF_popmax=0.0163;non_cancer_AF_popmax=.;controls_AF_popmax=0.0938;Kaviar_AF=0.139772;Kaviar_AC=21609;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . 0/1:-16.9617,0,-187.011:101:71:15:492:2424:71,15 . . . . . . . . . . . . . . . +chr7 91714911 . C T 6531.70 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=202;CIGAR=1X;DP=2655;DPB=202;DPRA=0;EPP=7.31025;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=284.637;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7637;QR=0;RO=0;RPL=110;RPP=6.49326;RPPR=0;RPR=92;RUN=1;SAF=101;SAP=3.0103;SAR=101;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-659.666,-60.8081,0:202:0:202:7637:0:0,202 . . 1/1:-591.732,-55.0885,0:183:0:183:6846:0:0,183 . 1/1:-697.607,-65.0225,0:216:0:216:8094:0:0,216 1/1:-617.036,-57.7978,0:192:0:192:7135:0:0,192 . . 1/1:-448.108,-41.8432,0:139:0:139:5195:0:0,139 1/1:-537.207,-51.4761,0:171:0:171:6248:0:0,171 . 1/1:-969.495,-90.008,0:299:0:299:11258:0:0,299 . . . 1/1:-588.156,-54.1854,0:181:0:180:6824:0:0,180 . . . 1/1:-723.95,-67.1297,0:223:0:223:8410:0:0,223 1/1:-379.64,-36.7257,0:123:0:122:4380:0:0,122 . . 1/1:-346.496,-31.6082,0:105:0:105:4010:0:0,105 1/1:-1108.07,-103.253,0:343:0:343:12858:0:0,343 . 1/1:-883.956,-83.3853,0:278:0:277:10227:0:0,277 . . . . . . . . . +chr7 91715662 . C T 4782.90 . AB=0.459627;ABP=7.56904;AC=11;AF=0.5;AN=18;AO=148;CIGAR=1X;DP=2695;DPB=322;DPRA=0;EPP=3.24505;EPPR=5.45633;GTI=0;LEN=1;MEANALT=1;MQM=41.9865;MQMR=41.8966;NS=1;NUMALT=1;ODDS=810.879;PAIRED=1;PAIREDR=0.994253;PAO=0;PQA=0;PQR=0;PRO=0;QA=5406;QR=6295;RO=174;RPL=120;RPP=127.195;RPPR=113.281;RPR=28;RUN=1;SAF=70;SAP=3.94932;SAR=78;SF=0,6,9,10,20,21,24,25,27;SRF=90;SRP=3.45957;SRR=84;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-372.906,0,-448.892:322:174:148:5406:6295:174,148 . . . . . 0/1:-346.434,0,-295.811:254:121:133:4869:4281:121,133 . . 0/1:-277.452,0,-239.581:200:94:106:3918:3457:94,106 0/1:-303.499,0,-362.735:257:137:120:4386:5069:137,120 . . . . . . . . . 0/1:-458.567,0,-508.72:377:196:180:6593:7205:196,180 0/1:-240.852,0,-330.443:226:129:97:3551:4575:129,97 . . 1/1:-478.203,-46.0576,0:153:0:153:5520:0:0,153 1/1:-1420.75,-135.765,0:454:0:451:16365:0:0,451 . 0/1:-559.394,0,-582.668:452:232:220:8008:8260:232,220 . . . . . . . . . +chr7 91726927 . A C 4890.15 . AB=0.534351;ABP=5.69563;AC=11;AF=0.5;AN=18;AO=140;CIGAR=1X;DP=2575;DPB=262;DPRA=0;EPP=13.4954;EPPR=16.9647;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=705.53;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=5180;QR=4638;RO=122;RPL=68;RPP=3.25847;RPPR=3.65106;RPR=72;RUN=1;SAF=101;SAP=62.6327;SAR=39;SF=0,6,9,10,20,21,24,25,27;SRF=91;SRP=67.0865;SRR=31;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-369.76,0,-321.504:262:122:140:5180:4638:122,140 . . . . . 0/1:-205.356,0,-292.638:189:107:82:3041:4043:107,82 . . 0/1:-255.08,0,-299.22:212:112:100:3678:4215:112,100 0/1:-320.722,0,-318.219:247:122:125:4558:4540:122,125 . . . . . . . . . 0/1:-359.986,0,-442.333:307:165:142:5229:6202:165,142 0/1:-237.414,0,-269.807:196:104:92:3423:3793:104,92 . . 1/1:-612.241,-58.3998,0:194:0:194:7063:0:0,194 1/1:-1602.85,-151.117,0:502:0:502:18597:0:0,502 . 0/1:-595.027,0,-601.388:466:233:233:8513:8569:233,233 . . . . . . . . . +chr7 91729127 . A G 5268.16 . AB=0.543243;ABP=9.02;AC=1;AF=0.5;AN=2;AO=201;CIGAR=1X;DP=370;DPB=370;DPRA=0;EPP=3.10753;EPPR=4.05106;GTI=0;LEN=1;MEANALT=1;MQM=41.9801;MQMR=41.8876;NS=1;NUMALT=1;ODDS=983.721;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7530;QR=6447;RO=169;RPL=128;RPP=35.6904;RPPR=36.4304;RPR=73;RUN=1;SAF=78;SAP=24.8871;SAR=123;SF=0;SRF=51;SRP=60.6892;SRR=118;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-540.047,0,-444.215:370:169:201:7530:6447:169,201 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 92085669 . C T 2055.74 . AB=0.655462;ABP=27.9914;AC=1;AF=0.5;AN=2;AO=78;CIGAR=1X;DP=119;DPB=119;DPRA=0;EPP=12.0303;EPPR=5.60547;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=184.114;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2971;QR=1451;RO=41;RPL=20;RPP=43.2104;RPPR=7.30028;RPR=58;RUN=1;SAF=50;SAP=16.4846;SAR=28;SF=6;SRF=29;SRP=18.3165;SRR=12;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GATAD1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs748579297;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=2.012e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=8.996e-05;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=1.901e-05;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=.;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\x3d98.434768;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-220.75,0,-90.5497:119:41:78:2971:1451:41,78 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 92085763 . C T 4754.16 . AB=0.495979;ABP=3.06269;AC=1;AF=0.5;AN=2;AO=185;CIGAR=1X;DP=373;DPB=373;DPRA=0;EPP=9.21954;EPPR=12.1632;GTI=0;LEN=1;MEANALT=3;MQM=41.8919;MQMR=41.7366;NS=1;NUMALT=1;ODDS=1071.18;PAIRED=0.994595;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=6926;QR=6773;RO=186;RPL=114;RPP=24.7133;RPPR=27.7137;RPR=71;RUN=1;SAF=76;SAP=15.7926;SAR=109;SF=27;SRF=89;SRP=3.75747;SRR=97;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-485.669,0,-474.861:373:186:185:6926:6773:186,185 . . . . . . . . . +chr7 128477472 . T C 58.05 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=7.35324;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=77;QR=0;RO=0;RPL=1;RPP=3.0103;RPPR=0;RPR=1;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=25;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-7.00916,-0.60206,0:2:0:2:77:0:0,2 . . . . . . . . . . . +chr7 150645534 . T G 1659.75 . AB=0.556604;ABP=5.96022;AC=7;AF=0.5;AN=12;AO=59;CIGAR=1X;DP=739;DPB=106;DPRA=0;EPP=19.2411;EPPR=30.2009;GTI=0;LEN=1;MEANALT=2;MQM=39.661;MQMR=42;NS=1;NUMALT=1;ODDS=183.023;PAIRED=0.881356;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2035;QR=1552;RO=46;RPL=3;RPP=106.394;RPPR=102.898;RPR=56;RUN=1;SAF=39;SAP=16.2968;SAR=20;SF=0,3,5,6,25,27;SRF=35;SRP=30.2009;SRR=11;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-139.839,0,-104.234:106:46:59:2035:1552:46,59 . . 0/1:-97.5629,0,-155.802:104:59:45:1557:2148:59,45 . 0/1:-179.128,0,-125.205:123:53:70:2474:1909:53,70 0/1:-91.982,0,-120.596:85:47:38:1343:1668:47,38 . . . . . . . . . . . . . . . . . . 0/1:-211.283,0,-188.43:172:79:88:3075:2732:79,88 . 1/1:-456.68,-44.8535,0:149:0:149:5231:0:0,149 . . . . . . . . . +chr7 150648198 . A G 4472.28 . AB=0;ABP=0;AC=18;AF=1;AN=22;AO=199;CIGAR=1X;DP=2171;DPB=199;DPRA=0;EPP=21.3532;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=38.6332;MQMR=0;NS=1;NUMALT=1;ODDS=280.478;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=7349;QR=0;RO=0;RPL=151;RPP=118.775;RPPR=0;RPR=48;RUN=1;SAF=37;SAP=173.509;SAR=162;SF=0,3,5,6,9,10,16,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-601.296,-59.905,0:199:0:199:7349:0:0,199 . . 1/1:-657.498,-66.2266,0:220:0:220:8004:0:0,220 . 0/1:-197.399,0,-374.455:225:137:88:3250:5157:137,88 1/1:-563.141,-52.3926,0:186:1:185:6794:39:1,185 . . 0/1:-199.528,0,-232.089:180:93:86:3149:3369:93,86 1/1:-622.239,-63.5173,0:211:0:211:7691:0:0,211 . . . . . 1/1:-566.556,-57.4967,0:192:0:191:6904:0:0,191 . . . . 0/1:-41.2123,0,-212.051:100:78:22:817:2804:78,22 . . 0/1:-124.063,0,-119.357:100:48:52:1904:1733:48,52 1/1:-921.986,-90.9111,0:304:0:302:11068:0:0,302 . 1/1:-766.493,-69.5052,0:254:2:252:9130:78:2,252 . . . . . . . . . +chr7 150648789 . T C 7817.42 . AB=0.5;ABP=3.0103;AC=10;AF=0.5;AN=16;AO=271;CIGAR=1X;DP=3884;DPB=542;DPRA=0;EPP=5.326;EPPR=4.81318;GTI=0;LEN=1;MEANALT=1;MQM=39.6015;MQMR=41.214;NS=1;NUMALT=1;ODDS=1431.25;PAIRED=0.99631;PAIREDR=0.99262;PAO=0;PQA=0;PQR=0;PRO=0;QA=9633;QR=9922;RO=271;RPL=178;RPP=60.9029;RPPR=30.9029;RPR=93;RUN=1;SAF=114;SAP=17.826;SAR=157;SF=3,6,9,10,16,21,24,25;SRF=112;SRP=20.7106;SRR=159;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-636.573,0,-688.925:542:271:271:9633:9922:271,271 . . 0/1:-462.579,0,-535.548:410:208:201:6998:7614:208,201 . . 0/1:-565.339,0,-620.374:484:242:240:8437:8921:242,240 1/1:-1604.92,-163.158,0:542:0:542:19157:0:0,542 . . . . . 1/1:-1709.52,-169.781,0:564:0:564:20349:0:0,564 . . . . 0/1:-77.2488,0,-489.586:235:184:49:1689:6515:184,49 . . 0/1:-310.684,0,-349.483:267:137:129:4596:4991:137,129 0/1:-1029.79,0,-1020.91:840:402:436:15231:14766:402,436 . . . . . . . . . . . +chr7 150649531 . G A 5013.93 . AB=0.449807;ABP=14.3456;AC=8;AF=0.5;AN=16;AO=233;CIGAR=1X;DP=3553;DPB=518;DPRA=0;EPP=27.2506;EPPR=9.00479;GTI=0;LEN=1;MEANALT=2;MQM=39.7639;MQMR=40.8345;NS=1;NUMALT=1;ODDS=1252.61;PAIRED=0.987124;PAIREDR=0.989437;PAO=0;PQA=0;PQR=0;PRO=0;QA=8690;QR=10421;RO=284;RPL=79;RPP=55.4332;RPPR=67.7263;RPR=154;RUN=1;SAF=157;SAP=64.1564;SAR=76;SF=3,6,9,10,16,21,24,25;SRF=172;SRP=30.536;SRR=112;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-566.356,0,-735.763:518:284:233:8690:10421:284,233 . . 0/1:-522.611,0,-514.606:405:200:205:7648:7460:200,205 . . 0/1:-492.362,0,-574.474:418:221:196:7372:8158:221,196 0/1:-697.504,0,-602.741:523:241:282:10470:8828:241,282 . . . . . 0/1:-638.3,0,-663.287:505:258:247:9275:9605:258,247 . . . . 0/1:-119.573,0,-419.173:220:159:60:2204:5693:159,60 . . 0/1:-280.249,0,-311.478:234:121:112:4188:4498:121,112 0/1:-914.483,0,-897.489:730:356:373:13662:13063:356,373 . . . . . . . . . . . +chr7 150649603 . G A 6391.95 . AB=0.458143;ABP=13.0083;AC=8;AF=0.5;AN=16;AO=301;CIGAR=1X;DP=4822;DPB=657;DPRA=0;EPP=55.1329;EPPR=34.6308;GTI=0;LEN=1;MEANALT=1;MQM=37.2658;MQMR=39.3427;NS=1;NUMALT=1;ODDS=1447.36;PAIRED=0.986711;PAIREDR=0.988764;PAO=0;PQA=0;PQR=0;PRO=0;QA=10620;QR=12688;RO=356;RPL=161;RPP=6.19176;RPPR=20.7969;RPR=140;RUN=1;SAF=177;SAP=23.275;SAR=124;SF=3,6,9,10,16,21,24,25;SRF=189;SRP=5.96253;SRR=167;TYPE=snp;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\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518326|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.936884;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . 0/1:-644.714,0,-868.975:657:356:301:10620:12688:356,301 . . 0/1:-626.969,0,-706.897:554:285:269:9665:10329:285,269 . . 0/1:-578.476,0,-756.164:571:304:265:9254:10971:304,265 0/1:-847.4,0,-836.88:715:339:374:13401:12352:339,374 . . . . . 0/1:-764.323,0,-885.535:696:362:333:11862:13093:362,333 . . . . 0/1:-100.877,0,-471.365:249:189:60:2032:6506:189,60 . . 0/1:-444.363,0,-396.764:354:166:188:6809:5965:166,188 0/1:-1246.77,0,-1140.18:1026:482:541:19282:17178:482,541 . . . . . . . . . . . +chr7 150655219 . C T 37.87 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=7.37776;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=54;QR=0;RO=0;RPL=2;RPP=7.35324;RPPR=0;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=6;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon4:c.G844A:p.A282T,KCNH2:NM_172056:exon4:c.G844A:p.A282T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.981;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.272;Polyphen2_HVAR_rankscore=0.549;Polyphen2_HVAR_pred=B;LRT_score=0.054;LRT_converted_rankscore=0.228;LRT_pred=N;MutationTaster_score=0.960;MutationTaster_converted_rankscore=0.381;MutationTaster_pred=D;MutationAssessor_score=1.995;MutationAssessor_score_rankscore=0.543;MutationAssessor_pred=M;FATHMM_score=-5.37;FATHMM_converted_rankscore=0.990;FATHMM_pred=D;PROVEAN_score=-1.63;PROVEAN_converted_rankscore=0.391;PROVEAN_pred=N;VEST3_score=0.652;VEST3_rankscore=0.666;MetaSVM_score=1.094;MetaSVM_rankscore=0.994;MetaSVM_pred=D;MetaLR_score=0.947;MetaLR_rankscore=0.983;MetaLR_pred=D;M-CAP_score=0.972;M-CAP_rankscore=0.998;M-CAP_pred=D;REVEL_score=0.628;REVEL_rankscore=0.859;MutPred_score=0.207;MutPred_rankscore=0.124;CADD_raw=5.033;CADD_raw_rankscore=0.678;CADD_phred=25.2;DANN_score=0.998;DANN_rankscore=0.850;fathmm-MKL_coding_score=0.602;fathmm-MKL_coding_rankscore=0.309;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.227;Eigen-PC-raw=0.194;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=3.8;GERP++_RS_rankscore=0.427;phyloP100way_vertebrate=2.179;phyloP100way_vertebrate_rankscore=0.419;phyloP20way_mammalian=0.869;phyloP20way_mammalian_rankscore=0.378;phastCons100way_vertebrate=0.915;phastCons100way_vertebrate_rankscore=0.316;phastCons20way_mammalian=0.588;phastCons20way_mammalian_rankscore=0.286;SiPhy_29way_logOdds=13.568;SiPhy_29way_logOdds_rankscore=0.611;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.940801;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 1/1:-4.99075,-0.60206,0:2:0:2:54:0:0,2 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 150655361 . C A 54.39 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=2;CIGAR=1X;DP=2;DPB=2;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=5.29832;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=72;QR=0;RO=0;RPL=0;RPP=7.35324;RPPR=0;RPR=2;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=27;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNH2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=KCNH2:NM_000238:exon4:c.G702T:p.L234L,KCNH2:NM_172056:exon4:c.G702T:p.L234L;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=Name\x3dOREG1277197|N/A|SMARCA4|PAZAR,OREG1518324|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.944402;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-6.64108,-0.60206,0:2:0:2:72:0:0,2 . . . . . . . . . +chr7 151262385 . T C 600.14 . AB=0.377778;ABP=8.84915;AC=5;AF=0.5;AN=10;AO=17;CIGAR=1X;DP=308;DPB=45;DPRA=0;EPP=3.13803;EPPR=5.80219;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=77.0864;PAIRED=1;PAIREDR=0.964286;PAO=0;PQA=0;PQR=0;PRO=0;QA=628;QR=1043;RO=28;RPL=4;RPP=13.3567;RPPR=14.1779;RPR=13;RUN=1;SAF=13;SAP=13.3567;SAR=4;SF=6,9,20,21,25;SRF=19;SRP=10.7656;SRR=9;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-41.1955,0,-77.0188:45:28:17:628:1043:28,17 . . 0/1:-63.041,0,-49.8434:43:20:23:875:722:20,23 . . . . . . . . . . 0/1:-55.6555,0,-91.6401:56:33:23:833:1251:33,23 0/1:-19.5189,0,-95.1246:44:34:10:374:1244:34,10 . . . 0/1:-162.774,0,-146.56:120:57:62:2308:2121:57,62 . . . . . . . . . . . +chr7 151262528 . A C 353.03 . AB=0.535714;ABP=3.32051;AC=1;AF=0.5;AN=2;AO=15;CIGAR=1X;DP=28;DPB=28;DPRA=0;EPP=3.15506;EPPR=4.51363;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=67.9895;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=563;QR=500;RO=13;RPL=11;RPP=10.1038;RPPR=16.5402;RPR=4;RUN=1;SAF=4;SAP=10.1038;SAR=11;SF=24;SRF=5;SRP=4.51363;SRR=8;TYPE=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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-40.6717,0,-35.0576:28:13:15:563:500:13,15 . . . . . . . . . . . . +chr7 151267353 . G A 1322.62 . AB=0.544118;ABP=4.1599;AC=3;AF=0.5;AN=6;AO=37;CIGAR=1X;DP=269;DPB=68;DPRA=0;EPP=12.9286;EPPR=3.64073;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=162.215;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1312;QR=1142;RO=31;RPL=33;RPP=52.3673;RPPR=14.8483;RPR=4;RUN=1;SAF=8;SAP=28.8919;SAR=29;SF=0,12,16;SRF=8;SRP=18.771;SRR=23;TYPE=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:GL:DP:RO:AO:QA:QR:AD 0/1:-94.0646,0,-78.949:68:31:37:1312:1142:31,37 . . . . . . . . . . . 0/1:-190.765,0,-93.4044:110:40:70:2579:1456:40,70 . . . 0/1:-155.151,0,-82.6494:91:34:57:2102:1269:34,57 . . . . . . . . . . . . . . . . . . . . +chr7 151329255 . A G 29.94 . AB=0.5;ABP=3.0103;AC=1;AF=0.5;AN=2;AO=2;CIGAR=1X;DP=4;DPB=4;DPRA=0;EPP=3.0103;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=6.89266;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=75;QR=76;RO=2;RPL=2;RPP=7.35324;RPPR=7.35324;RPR=0;RUN=1;SAF=1;SAP=3.0103;SAR=1;SF=24;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=PRKAG2;GeneDetail.refGene=NM_024429:c.-70T>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs777033768;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=3.44e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=6.541e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_nfe=.;AF_fin=.;AF_asj=.;AF_oth=.;non_topmed_AF_popmax=.;non_neuro_AF_popmax=.;non_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\x3dENSR00000219874|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1488555|N/A|EGR1|PAZAR,OREG1250294|N/A|SMARCA4|PAZAR,OREG1220169|N/A|SMARCA4|PAZAR,OREG1168528|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.653945;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-5.66929,0,-5.73939:4:2:2:75:76:2,2 . . . . . . . . . . . . +chr7 151573580 . G A 1766.70 . AB=0.484663;ABP=3.34335;AC=2;AF=0.5;AN=4;AO=79;CIGAR=1X;DP=350;DPB=163;DPRA=0;EPP=5.23675;EPPR=3.42391;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=369.863;PAIRED=0.987342;PAIREDR=0.988095;PAO=0;PQA=0;PQR=0;PRO=0;QA=2544;QR=2838;RO=84;RPL=22;RPP=36.6819;RPPR=62.5707;RPR=57;RUN=1;SAF=57;SAP=36.6819;SAR=22;SF=0,20;SRF=56;SRP=23.2774;SRR=28;TYPE=snp;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\x3dOREG1168526|N/A|TFAP2C|PAZAR,OREG1488557|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.665623;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-174.112,0,-198.86:163:84:79:2544:2838:84,79 . . . . . . . . . . . . . . . . . . . 0/1:-207.599,0,-219.404:187:93:92:3007:3152:93,92 . . . . . . . . . . . . . . . . +chr7 151573731 . G A 789.05 . AB=0.40625;ABP=12.7819;AC=2;AF=0.5;AN=4;AO=52;CIGAR=1X;DP=201;DPB=128;DPRA=0;EPP=5.68288;EPPR=12.2676;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=277.9;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1966;QR=2859;RO=76;RPL=34;RPP=13.7006;RPPR=22.325;RPR=18;RUN=1;SAF=14;SAP=27.0635;SAR=38;SF=0,21;SRF=22;SRP=32.268;SRR=54;TYPE=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\x3dOREG1168526|N/A|TFAP2C|PAZAR,OREG1488557|N/A|EGR1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.865855;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-131.469,0,-209.105:128:76:52:1966:2859:76,52 . . . . . . . . . . . . . . . . . . . . 0/1:-46.9316,0,-137.183:73:51:22:792:1826:51,22 . . . . . . . . . . . . . . . +chr9 71650752 . A G 535.00 . AB=0;ABP=0;AC=26;AF=1;AN=26;AO=14;CIGAR=1X;DP=250;DPB=14;DPRA=0;EPP=3.0103;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=24.0133;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=523;QR=0;RO=0;RPL=8;RPP=3.63072;RPPR=0;RPR=6;RUN=1;SAF=7;SAP=3.0103;SAR=7;SF=0,3,5,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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\x3dOREG1187779|N/A|TFAP2C|PAZAR,OREG1900099|N/A|STAT1|PAZAR,OREG1238317|N/A|SMARCA4|PAZAR,OREG1269248|N/A|SMARCA4|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.530374;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-45.7436,-4.21442,0:14:0:14:523:0:0,14 . . 1/1:-88.7949,-8.42884,0:28:0:28:1018:0:0,28 . 1/1:-86.7188,-8.42884,0:28:0:28:990:0:0,28 1/1:-6.79932,-0.60206,0:2:0:2:74:0:0,2 . . 1/1:-88.1084,-8.72987,0:29:0:29:1004:0:0,29 1/1:-50.025,-4.81648,0:16:0:16:569:0:0,16 . 1/1:-128.298,-12.6433,0:42:0:42:1470:0:0,42 . . . 1/1:-64.7378,-6.0206,0:20:0:20:742:0:0,20 . . . 1/1:-98.4361,-9.93399,0:33:0:33:1126:0:0,33 1/1:-14.1226,-1.50515,0:5:0:5:157:0:0,5 . . 1/1:-6.38754,-0.60206,0:2:0:2:70:0:0,2 1/1:-61.1144,-6.62266,0:22:0:22:693:0:0,22 . 1/1:-26.7373,-2.70927,0:9:0:9:327:0:0,9 . . . . . . . . . +chr9 71668197 . T C 2209.58 . AB=0;ABP=0;AC=17;AF=1;AN=24;AO=91;CIGAR=1X;DP=1310;DPB=91;DPRA=0;EPP=103.829;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.7473;MQMR=0;NS=1;NUMALT=1;ODDS=130.758;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3391;QR=0;RO=0;RPL=63;RPP=32.2417;RPPR=0;RPR=28;RUN=1;SAF=54;SAP=9.90651;SAR=37;SF=0,3,6,9,10,12,16,20,21,24,25,27;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-292.17,-27.3937,0:91:0:91:3391:0:0,91 . . 1/1:-275.334,-25.2865,0:84:0:84:3191:0:0,84 . . 0/1:-133.852,0,-70.2957:77:29:48:1818:1079:29,48 . . 1/1:-272.406,-24.9855,0:83:0:83:3159:0:0,83 0/1:-121.543,0,-123.598:92:46:46:1724:1752:46,46 . 0/1:-195.791,0,-165.231:135:63:72:2753:2386:63,72 . . . 1/1:-402.904,-37.0267,0:123:0:123:4675:0:0,123 . . . 0/1:-98.2756,0,-203.773:113:72:41:1532:2756:72,41 0/1:-195.742,0,-78.0545:104:34:70:2625:1263:34,70 . . 0/1:-70.9549,0,-65.4692:53:25:28:1001:940:25,28 1/1:-492.563,-44.6938,0:160:1:158:5763:35:1,158 . 0/1:-283.463,0,-237.028:195:91:104:3984:3423:91,104 . . . . . . . . . +chr9 103348319 . C T 2563.22 . AB=0.497738;ABP=3.02013;AC=1;AF=0.5;AN=2;AO=110;CIGAR=1X;DP=221;DPB=221;DPRA=0;EPP=9.40627;EPPR=11.6375;GTI=0;LEN=1;MEANALT=1;MQM=41.8091;MQMR=41.8288;NS=1;NUMALT=1;ODDS=590.203;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3829;QR=3994;RO=111;RPL=75;RPP=34.5954;RPPR=8.66395;RPR=35;RUN=1;SAF=51;SAP=4.2737;SAR=59;SF=24;SRF=48;SRP=7.41193;SRR=63;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=CAVIN4;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=CAVIN4:NM_001018116:exon2:c.C681T:p.T227T;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs761072559;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_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=1.841e-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\x3d98.402908;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-265.962,0,-280.561:221:111:110:3829:3994:111,110 . . . . . . . . . . . . +chr9 103348634 . G A 2160.89 . AB=0.368421;ABP=23.0107;AC=8;AF=0.5;AN=14;AO=49;CIGAR=1X;DP=974;DPB=133;DPRA=0;EPP=10.4997;EPPR=7.43173;GTI=0;LEN=1;MEANALT=2;MQM=41.6327;MQMR=41.9759;NS=1;NUMALT=1;ODDS=252.986;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1851;QR=3043;RO=83;RPL=20;RPP=6.59988;RPPR=14.5479;RPR=29;RUN=1;SAF=28;SAP=5.18177;SAR=21;SF=0,9,10,12,21,24,27;SRF=45;SRP=4.29225;SRR=38;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 0/1:-119.083,0,-224.358:133:83:49:1851:3043:83,49 . . . . . . . . 0/1:-138.135,0,-137.288:106:53:53:1975:1947:53,53 0/1:-168.08,0,-166.859:130:65:65:2391:2370:65,65 . 0/1:-235.845,0,-236.091:182:92:90:3378:3352:92,90 . . . . . . . . 0/1:-66.3879,0,-178.324:97:67:30:1131:2395:67,30 . . 0/1:-125.807,0,-120.966:95:48:47:1795:1719:48,47 . . 1/1:-732.44,-69.5379,0:231:0:231:8477:0:0,231 . . . . . . . . . +chr9 108363426 . C T 788.36 . AB=0.5;ABP=3.0103;AC=2;AF=0.5;AN=4;AO=41;CIGAR=1X;DP=179;DPB=82;DPRA=0;EPP=3.48696;EPPR=3.06326;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.561;NS=1;NUMALT=1;ODDS=215.918;PAIRED=0.97561;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1509;QR=1486;RO=41;RPL=15;RPP=9.41879;RPPR=5.60547;RPR=26;RUN=1;SAF=35;SAP=47.552;SAR=6;SF=10,21;SRF=35;SRP=47.552;SRR=6;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . 0/1:-106.269,0,-104.591:82:41:41:1509:1486:41,41 . . . . . . . . . . 0/1:-74.8876,0,-171.418:97:63:33:1192:2306:63,33 . . . . . . . . . . . . . . . +chr9 108366499 . G A 1183.59 . AB=0.494845;ABP=3.03269;AC=1;AF=0.5;AN=2;AO=48;CIGAR=1X;DP=97;DPB=97;DPRA=0;EPP=14.5915;EPPR=19.0083;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9592;NS=1;NUMALT=1;ODDS=272.533;PAIRED=1;PAIREDR=0.979592;PAO=0;PQA=0;PQR=0;PRO=0;QA=1807;QR=1841;RO=49;RPL=15;RPP=17.6677;RPPR=35.3165;RPR=33;RUN=1;SAF=29;SAP=7.5342;SAR=19;SF=6;SRF=24;SRP=3.05462;SRR=25;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-127.348,0,-130.748:97:49:48:1807:1841:49,48 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr9 108366734 . G A 3933.02 . AB=0;ABP=0;AC=4;AF=1;AN=6;AO=192;CIGAR=1X;DP=645;DPB=196;DPRA=0;EPP=6.67466;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=230.74;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7300;QR=154;RO=4;RPL=116;RPP=21.1059;RPPR=5.18177;RPR=76;RUN=1;SAF=73;SAP=26.9417;SAR=119;SF=0,5,10;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-616.097,-45.3525,0:196:4:192:7300:154:4,192 . . . . 0/1:-369.93,0,-330.107:263:127:136:5204:4725:127,136 . . . . 0/1:-218.907,0,-273.771:186:100:84:3179:3808:100,84 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr9 108370092 . G T 99.84 . AB=0.359551;ABP=18.2594;AC=1;AF=0.5;AN=2;AO=32;CIGAR=1X;DP=89;DPB=89;DPRA=0;EPP=4.09604;EPPR=78.0812;GTI=0;LEN=1;MEANALT=2;MQM=37.9062;MQMR=39.9464;NS=1;NUMALT=1;ODDS=22.9883;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=590;QR=1937;RO=56;RPL=18;RPP=4.09604;RPPR=25.3454;RPR=14;RUN=1;SAF=32;SAP=72.4974;SAR=0;SF=24;SRF=14;SRP=33.4109;SRR=42;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=488490;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=0.0002;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=.;Kaviar_AC=.;Kaviar_AN=.;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.085187;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-25.0759,0,-134.961:89:56:32:590:1937:56,32 . . . . . . . . . . . . +chr9 108380352 . G A 1282.31 . AB=0.495238;ABP=3.03098;AC=1;AF=0.5;AN=2;AO=52;CIGAR=1X;DP=105;DPB=105;DPRA=0;EPP=40.5935;EPPR=40.5935;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=295.262;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1961;QR=1960;RO=52;RPL=27;RPP=3.17734;RPPR=3.17734;RPR=25;RUN=1;SAF=22;SAP=5.68288;SAR=30;SF=9;SRF=28;SRP=3.67845;SRR=24;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=FKTN;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=FKTN:NM_001351498:exon8:c.G1023A:p.P341P,FKTN:NM_006731:exon8:c.G1023A:p.P341P,FKTN:NM_001079802:exon9:c.G1023A:p.P341P,FKTN:NM_001198963:exon9:c.G1023A:p.P341P,FKTN:NM_001351501:exon9:c.G627A:p.P209P,FKTN:NM_001351496:exon10:c.G1023A:p.P341P,FKTN:NM_001351500:exon10:c.G627A:p.P209P,FKTN:NM_001351497:exon11:c.G954A:p.P318P,FKTN:NM_001351499:exon11:c.G627A:p.P209P,FKTN:NM_001351502:exon12:c.G627A:p.P209P;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs146967918;CLNALLELEID=44800;CLNDN=Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|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=0.0003;ExAC_nontcga_ALL=0.0009;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0.0002;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0082;ExAC_nontcga_NFE=0.0007;ExAC_nontcga_OTH=0.0029;ExAC_nontcga_SAS=6.133e-05;AF=0.0017;AF_popmax=0.0012;AF_male=0.0013;AF_female=0.0022;AF_raw=0.0017;AF_afr=0.0003;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0012;AF_fin=0.0069;AF_asj=0;AF_oth=0.0065;non_topmed_AF_popmax=0.0015;non_neuro_AF_popmax=0.0010;non_cancer_AF_popmax=.;controls_AF_popmax=0.0018;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=Name\x3d98.998867;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-138.407,0,-138.642:105:52:52:1961:1960:52,52 . . . . . . . . . . . . . . . . . . . . . . . . . . . +chr9 108380355 . C A 2010.56 . AB=0;ABP=0;AC=4;AF=1;AN=6;AO=105;CIGAR=1X;DP=346;DPB=105;DPRA=0;EPP=65.5694;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.4667;MQMR=0;NS=1;NUMALT=1;ODDS=150.166;PAIRED=0.971429;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3883;QR=0;RO=0;RPL=52;RPP=3.03098;RPPR=0;RPR=53;RUN=1;SAF=57;SAP=4.68544;SAR=48;SF=0,5,10;SRF=0;SRP=0;SRR=0;TYPE=snp;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:GL:DP:RO:AO:QA:QR:AD 1/1:-334.829,-31.6082,0:105:0:105:3883:0:0,105 . . . . 0/1:-145.191,0,-214.105:136:79:57:2163:2957:79,57 . . . . 0/1:-155.002,0,-123.439:105:48:57:2154:1795:48,57 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr9 131709581 . ATA ATTA 3241.96 . AB=0.462069;ABP=6.63441;AC=1;AF=0.5;AN=2;AO=134;CIGAR=1M1I2M;DP=290;DPB=335;DPRA=0;EPP=3.59368;EPPR=3.24192;GTI=0;LEN=1;MEANALT=3;MQM=41.9403;MQMR=41.9867;NS=1;NUMALT=1;ODDS=746.489;PAIRED=1;PAIREDR=1;PAO=1;PQA=38;PQR=0;PRO=0;QA=4895;QR=5489;RO=150;RPL=105;RPP=96.6105;RPPR=51.7092;RPR=29;RUN=1;SAF=59;SAP=7.15878;SAR=75;SF=5;SRF=65;SRP=8.80089;SRR=85;TYPE=ins;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\x3dOREG1223386|N/A|SMARCA4|PAZAR,OREG1492173|N/A|EGR1|PAZAR,OREG1253658|N/A|SMARCA4|PAZAR,OREG1792595|N/A|RBL2|PAZAR,OREG1171895|N/A|TFAP2C|PAZAR,OREG1798525|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.197933;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-341.531,0,-390.506:290:150:134:4895:5489:150,134 . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . +chrX 31224684 . A G 2426.10 . AB=0;ABP=0;AC=64;AF=1;AN=66;AO=99;CIGAR=1X;DP=2748;DPB=100;DPRA=0;EPP=4.78696;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.798;MQMR=0;NS=1;NUMALT=1;ODDS=141.848;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3663;QR=0;RO=0;RPL=25;RPP=55.674;RPPR=0;RPR=74;RUN=1;SAF=67;SAP=29.8795;SAR=32;SF=0,1,2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,21,22,23,24,25,26,27,28,29,31,32,33,34;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.803974;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2293668;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_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.8793;ExAC_nontcga_ALL=0.8836;ExAC_nontcga_AFR=0.7629;ExAC_nontcga_AMR=0.9368;ExAC_nontcga_EAS=0.8406;ExAC_nontcga_FIN=0.9095;ExAC_nontcga_NFE=0.9059;ExAC_nontcga_OTH=0.8830;ExAC_nontcga_SAS=0.8589;AF=0.8420;AF_popmax=0.9253;AF_male=0.8475;AF_female=0.8389;AF_raw=0.8373;AF_afr=0.7380;AF_sas=.;AF_amr=0.9253;AF_eas=0.7930;AF_nfe=0.8869;AF_fin=0.8865;AF_asj=0.8611;AF_oth=0.8387;non_topmed_AF_popmax=0.9250;non_neuro_AF_popmax=0.9382;non_cancer_AF_popmax=.;controls_AF_popmax=0.9337;Kaviar_AF=0.819032;Kaviar_AC=126624;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.977151;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-316.063,-29.802,0:100:0:99:3663:0:0,99 1/1:-108.94,-10.5361,0:35:0:35:1249:0 1/1:-244.552,-23.1793,0:77:0:77:2824:0 1/1:-213.503,-19.868,0:66:0:66:2464:0:0,66 1/1:-486.574,-45.4555,0:151:0:151:5652:0 1/1:-398.149,-36.2311,0:126:1:125:4635:17:1,125 1/1:-241.713,-22.5773,0:75:0:75:2790:0:0,75 1/1:-281.818,-27.3937,0:91:0:91:3293:0 1/1:-175.182,-16.5567,0:55:0:55:2016:0 1/1:-380.408,-35.5215,0:119:0:118:4395:0:0,118 1/1:-280.569,-25.7948,0:91:1:90:3245:16:1,90 1/1:-279.54,-26.7917,0:89:0:89:3250:0 1/1:-595.207,-55.3895,0:184:0:184:6876:0:0,184 1/1:-311.609,-29.802,0:99:0:99:3592:0 1/1:-171.715,-13.2032,0:56:1:55:2020:38 1/1:-165.541,-15.3525,0:51:0:51:1908:0 1/1:-159.139,-15.0515,0:50:0:50:1831:0:0,50 0/1:-195.777,0,-225.528:158:83:75:2810:3158 0/1:-109.878,0,-84.3536:74:33:41:1521:1232 1/1:-149.558,-14.1484,0:47:0:47:1720:0 . 1/1:-185.316,-18.0618,0:60:0:60:2128:0:0,60 1/1:-94.7354,-9.0309,0:30:0:30:1087:0 1/1:-439.338,-40.9401,0:136:0:136:5072:0 1/1:-134.855,-12.3422,0:41:0:41:1556:0:0,41 1/1:-325.031,-31.0061,0:103:0:103:3759:0:0,103 1/1:-245.245,-23.1793,0:77:0:77:2822:0 1/1:-343.55,-33.1133,0:110:0:110:3982:0:0,110 1/1:-180.566,-17.4597,0:58:0:58:2087:0 1/1:-329.725,-31.3071,0:105:0:104:3823:0 . 1/1:-166.547,-15.9546,0:53:0:53:1915:0 1/1:-242.556,-22.8783,0:76:0:76:2796:0 1/1:-171.588,-16.2556,0:54:0:54:1979:0 1/1:-161.014,-15.3525,0:51:0:51:1853:0 . . +chrX 31496350 . C T 8269.58 . AB=0;ABP=0;AC=65;AF=1;AN=66;AO=389;CIGAR=1X;DP=8877;DPB=391;DPRA=0;EPP=110.864;EPPR=5.18177;GTI=0;LEN=1;MEANALT=2;MQM=41.9846;MQMR=40;NS=1;NUMALT=1;ODDS=538.715;PAIRED=0.997429;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=14688;QR=13;RO=1;RPL=160;RPP=29.5871;RPPR=5.18177;RPR=229;RUN=1;SAF=189;SAP=3.68575;SAR=200;SF=0,1,2,4,5,6,7,8,9,10,12,13,14,15,16,17,18,19,20,21,22,23,24,26,28,29,30,31,32,33,34,35,36;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;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;1000g2015aug_all=0.881854;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800280;CLNALLELEID=177478;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.624;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=0.001;Polyphen2_HVAR_rankscore=0.040;Polyphen2_HVAR_pred=B;LRT_score=0.003;LRT_converted_rankscore=0.354;LRT_pred=N;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.204;MutationTaster_pred=P;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=1.01;FATHMM_converted_rankscore=0.411;FATHMM_pred=T;PROVEAN_score=0.22;PROVEAN_converted_rankscore=0.116;PROVEAN_pred=N;VEST3_score=0.203;VEST3_rankscore=0.249;MetaSVM_score=-0.945;MetaSVM_rankscore=0.419;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=0.050;REVEL_rankscore=0.144;MutPred_score=.;MutPred_rankscore=.;CADD_raw=2.138;CADD_raw_rankscore=0.318;CADD_phred=17.10;DANN_score=0.834;DANN_rankscore=0.142;fathmm-MKL_coding_score=0.307;fathmm-MKL_coding_rankscore=0.239;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=0.993;GenoCanyon_score_rankscore=0.331;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=4.23;GERP++_RS_rankscore=0.492;phyloP100way_vertebrate=0.643;phyloP100way_vertebrate_rankscore=0.243;phyloP20way_mammalian=0.154;phyloP20way_mammalian_rankscore=0.240;phastCons100way_vertebrate=0.993;phastCons100way_vertebrate_rankscore=0.376;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=8.899;SiPhy_29way_logOdds_rankscore=0.345;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.9392;ExAC_nontcga_ALL=0.8992;ExAC_nontcga_AFR=0.9896;ExAC_nontcga_AMR=0.7869;ExAC_nontcga_EAS=0.9266;ExAC_nontcga_FIN=0.9421;ExAC_nontcga_NFE=0.9466;ExAC_nontcga_OTH=0.9204;ExAC_nontcga_SAS=0.7111;AF=0.9524;AF_popmax=0.9873;AF_male=0.9531;AF_female=0.9520;AF_raw=0.9517;AF_afr=0.9873;AF_sas=.;AF_amr=0.8331;AF_eas=0.9260;AF_nfe=0.9463;AF_fin=0.9421;AF_asj=0.9605;AF_oth=0.9367;non_topmed_AF_popmax=0.9872;non_neuro_AF_popmax=0.9869;non_cancer_AF_popmax=.;controls_AF_popmax=0.9863;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\x3d99.474187;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-1266.73,-116.247,0:391:1:389:14688:13:1,389 1/1:-262.67,-24.6845,0:82:0:82:3040:0 1/1:-767.527,-72.5482,0:242:0:241:8928:0 . 1/1:-1535.43,-143.29,0:476:0:476:17809:0 1/1:-1704.09,-157.439,0:527:0:523:19816:0:0,523 1/1:-1006.87,-93.6203,0:311:0:311:11673:0:0,311 1/1:-890.458,-84.2884,0:281:0:280:10318:0 1/1:-561.993,-52.9813,0:177:0:176:6554:0 1/1:-1077.75,-101.447,0:337:0:337:12483:0:0,337 0/1:-412.477,0,-516.905:359:195:163:6017:7261:195,163 . 1/1:-2077.32,-192.659,0:640:0:640:24108:0:0,640 1/1:-900.712,-84.8385,0:289:1:285:10435:14 1/1:-601.166,-55.9916,0:186:0:186:6964:0 1/1:-713.092,-64.8787,0:227:2:225:8309:52 1/1:-723.71,-67.4307,0:224:0:224:8399:0:0,224 1/1:-1524.07,-142.387,0:474:0:473:17685:0 1/1:-870.688,-80.676,0:268:0:268:10082:0 1/1:-646.135,-59.905,0:199:0:199:7482:0 1/1:-796.291,-73.9071,0:250:1:249:9348:14:1,249 1/1:-524.242,-49.67,0:166:0:165:6074:0:0,165 1/1:-382.445,-36.1236,0:120:0:120:4418:0 1/1:-1654.26,-152.622,0:508:0:507:19172:0 1/1:-317.741,-29.802,0:99:0:99:3673:0:0,99 . 1/1:-873.128,-79.0999,0:291:3:287:10227:93 . 1/1:-469.593,-44.5524,0:148:0:148:5441:0 1/1:-1038.9,-99.942,0:332:0:332:12015:0 1/1:-530.395,-49.3689,0:164:0:164:6135:0 1/1:-530.995,-49.67,0:165:0:165:6139:0 1/1:-707.77,-65.9256,0:219:0:219:8262:0 1/1:-513.391,-47.8638,0:159:0:159:5971:0 1/1:-643.084,-59.905,0:201:0:199:7460:0 1/1:-263.349,-24.3834,0:81:0:81:3045:0 1/1:-885.84,-78.2192,0:284:2:280:10370:76 +chrX 31496426 . T C 3965.23 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=130;CIGAR=1X;DP=132;DPB=132;DPRA=0;EPP=14.302;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.8769;MQMR=42;NS=1;NUMALT=1;ODDS=165.013;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4828;QR=78;RO=2;RPL=105;RPP=109.914;RPPR=7.35324;RPR=25;RUN=1;SAF=63;SAP=3.27756;SAR=67;SF=14;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.A547G:p.N183D,DMD:NM_004013:exon16:c.A1354G:p.N452D,DMD:NM_004020:exon16:c.A1354G:p.N452D,DMD:NM_004021:exon16:c.A1354G:p.N452D,DMD:NM_004022:exon16:c.A1354G:p.N452D,DMD:NM_004023:exon16:c.A1354G:p.N452D,DMD:NM_004011:exon31:c.A4711G:p.N1571D,DMD:NM_004012:exon31:c.A4702G:p.N1568D,DMD:NM_000109:exon59:c.A8710G:p.N2904D,DMD:NM_004006:exon59:c.A8734G:p.N2912D,DMD:NM_004009:exon59:c.A8722G:p.N2908D,DMD:NM_004010:exon59:c.A8365G:p.N2789D;1000g2015aug_all=0.0370861;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800278;CLNALLELEID=26307;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.167;SIFT_converted_rankscore=0.481;SIFT_pred=T;Polyphen2_HDIV_score=0.281;Polyphen2_HDIV_rankscore=0.304;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.428;Polyphen2_HVAR_rankscore=0.435;Polyphen2_HVAR_pred=B;LRT_score=0.113;LRT_converted_rankscore=0.193;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=0;MutationAssessor_score_rankscore=0.065;MutationAssessor_pred=N;FATHMM_score=1.25;FATHMM_converted_rankscore=0.365;FATHMM_pred=T;PROVEAN_score=-1.4;PROVEAN_converted_rankscore=0.346;PROVEAN_pred=N;VEST3_score=0.139;VEST3_rankscore=0.162;MetaSVM_score=-1.038;MetaSVM_rankscore=0.179;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=0.062;REVEL_rankscore=0.184;MutPred_score=.;MutPred_rankscore=.;CADD_raw=1.799;CADD_raw_rankscore=0.277;CADD_phred=14.98;DANN_score=0.982;DANN_rankscore=0.388;fathmm-MKL_coding_score=0.139;fathmm-MKL_coding_rankscore=0.179;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=0.956;GenoCanyon_score_rankscore=0.282;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=1.66;GERP++_RS_rankscore=0.230;phyloP100way_vertebrate=0.521;phyloP100way_vertebrate_rankscore=0.224;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=0.025;phastCons100way_vertebrate_rankscore=0.199;phastCons20way_mammalian=1.000;phastCons20way_mammalian_rankscore=0.888;SiPhy_29way_logOdds=1.646;SiPhy_29way_logOdds_rankscore=0.026;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0085;ExAC_nontcga_ALL=0.0228;ExAC_nontcga_AFR=0.0771;ExAC_nontcga_AMR=0.0254;ExAC_nontcga_EAS=0.0448;ExAC_nontcga_FIN=0.0144;ExAC_nontcga_NFE=0.0122;ExAC_nontcga_OTH=0.0107;ExAC_nontcga_SAS=0.0123;AF=0.0295;AF_popmax=0.0696;AF_male=0.0292;AF_female=0.0297;AF_raw=0.0302;AF_afr=0.0696;AF_sas=.;AF_amr=0.0161;AF_eas=0.0526;AF_nfe=0.0114;AF_fin=0.0149;AF_asj=0.0276;AF_oth=0.0113;non_topmed_AF_popmax=0.0692;non_neuro_AF_popmax=0.0703;non_cancer_AF_popmax=.;controls_AF_popmax=0.0673;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\x3d99.427848;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 1/1:-411.332,-32.6612,0:132:2:130:4828:78 . . . . . . . . . . . . . . . . . . . . . . +chrX 31496431 . T A 3263.42 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=110;CIGAR=1X;DP=112;DPB=112;DPRA=0;EPP=8.06391;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.8909;MQMR=42;NS=1;NUMALT=1;ODDS=137.617;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=3969;QR=78;RO=2;RPL=89;RPP=94.2911;RPPR=7.35324;RPR=21;RUN=1;SAF=56;SAP=3.08926;SAR=54;SF=14;SRF=1;SRP=3.0103;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004014:exon5:c.A542T:p.E181V,DMD:NM_004013:exon16:c.A1349T:p.E450V,DMD:NM_004020:exon16:c.A1349T:p.E450V,DMD:NM_004021:exon16:c.A1349T:p.E450V,DMD:NM_004022:exon16:c.A1349T:p.E450V,DMD:NM_004023:exon16:c.A1349T:p.E450V,DMD:NM_004011:exon31:c.A4706T:p.E1569V,DMD:NM_004012:exon31:c.A4697T:p.E1566V,DMD:NM_000109:exon59:c.A8705T:p.E2902V,DMD:NM_004006:exon59:c.A8729T:p.E2910V,DMD:NM_004009:exon59:c.A8717T:p.E2906V,DMD:NM_004010:exon59:c.A8360T:p.E2787V;1000g2015aug_all=0.0357616;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41305353;CLNALLELEID=26306;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202;CLNREVSTAT=criteria_provided,_conflicting_interpretations;CLNSIG=Conflicting_interpretations_of_pathogenicity;SIFT_score=0.004;SIFT_converted_rankscore=0.682;SIFT_pred=D;Polyphen2_HDIV_score=0.119;Polyphen2_HDIV_rankscore=0.577;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.268;Polyphen2_HVAR_rankscore=0.519;Polyphen2_HVAR_pred=B;LRT_score=0.039;LRT_converted_rankscore=0.242;LRT_pred=U;MutationTaster_score=0.000;MutationTaster_converted_rankscore=0.473;MutationTaster_pred=P;MutationAssessor_score=0.88;MutationAssessor_score_rankscore=0.216;MutationAssessor_pred=L;FATHMM_score=1.18;FATHMM_converted_rankscore=0.377;FATHMM_pred=T;PROVEAN_score=-2.31;PROVEAN_converted_rankscore=0.695;PROVEAN_pred=N;VEST3_score=0.39;VEST3_rankscore=0.540;MetaSVM_score=-1.040;MetaSVM_rankscore=0.172;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=0.199;REVEL_rankscore=0.487;MutPred_score=.;MutPred_rankscore=.;CADD_raw=5.718;CADD_raw_rankscore=0.781;CADD_phred=26.9;DANN_score=0.994;DANN_rankscore=0.631;fathmm-MKL_coding_score=0.985;fathmm-MKL_coding_rankscore=0.834;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=5.4;GERP++_RS_rankscore=0.779;phyloP100way_vertebrate=5.926;phyloP100way_vertebrate_rankscore=0.696;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=14.681;SiPhy_29way_logOdds_rankscore=0.685;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0085;ExAC_nontcga_ALL=0.0224;ExAC_nontcga_AFR=0.0735;ExAC_nontcga_AMR=0.0254;ExAC_nontcga_EAS=0.0443;ExAC_nontcga_FIN=0.0144;ExAC_nontcga_NFE=0.0123;ExAC_nontcga_OTH=0.0107;ExAC_nontcga_SAS=0.0123;AF=0.0284;AF_popmax=0.0656;AF_male=0.0272;AF_female=0.0290;AF_raw=0.0294;AF_afr=0.0656;AF_sas=.;AF_amr=0.0161;AF_eas=0.0499;AF_nfe=0.0116;AF_fin=0.0149;AF_asj=0.0278;AF_oth=0.0101;non_topmed_AF_popmax=0.0651;non_neuro_AF_popmax=0.0680;non_cancer_AF_popmax=.;controls_AF_popmax=0.0646;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\x3d99.680053;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . 1/1:-338.726,-26.6406,0:112:2:110:3969:78 . . . . . . . . . . . . . . . . . . . . . . +chrX 31676096 . G A 1309.33 . AB=0.53125;ABP=3.55317;AC=25;AF=0.5;AN=30;AO=34;CIGAR=1X;DP=826;DPB=64;DPRA=0;EPP=3.0103;EPPR=5.61607;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=166.092;PAIRED=0.970588;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1292;QR=1148;RO=30;RPL=4;RPP=46.1843;RPPR=17.1973;RPR=30;RUN=1;SAF=21;SAP=7.09778;SAR=13;SF=0,1,4,5,6,7,9,10,12,13,17,18,26,30,36;SRF=20;SRP=10.2485;SRR=10;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.328477;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2270672;CLNALLELEID=100683;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_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.3511;ExAC_nontcga_ALL=0.3384;ExAC_nontcga_AFR=0.3145;ExAC_nontcga_AMR=0.1677;ExAC_nontcga_EAS=0.3088;ExAC_nontcga_FIN=0.4436;ExAC_nontcga_NFE=0.3469;ExAC_nontcga_OTH=0.3579;ExAC_nontcga_SAS=0.4460;AF=0.3557;AF_popmax=0.3686;AF_male=0.3511;AF_female=0.3581;AF_raw=0.3561;AF_afr=0.3197;AF_sas=.;AF_amr=0.1990;AF_eas=0.3060;AF_nfe=0.3686;AF_fin=0.4203;AF_asj=0.3771;AF_oth=0.4065;non_topmed_AF_popmax=0.3730;non_neuro_AF_popmax=0.3683;non_cancer_AF_popmax=.;controls_AF_popmax=0.3810;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\x3d98.798461;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-92.4758,0,-80.0998:64:30:34:1292:1148:30,34 1/1:-19.9618,-1.80618,0:6:0:6:227:0 . . 0/1:-91.3807,0,-94.0532:72:35:37:1313:1337 1/1:-201.383,-18.9649,0:63:0:63:2324:0:0,63 0/1:-55.9802,0,-67.7504:48:26:22:810:947:26,22 1/1:-163.216,-15.6536,0:52:0:52:1906:0 . 0/1:-58.8523,0,-90.6083:58:34:24:878:1244:34,24 0/1:-78.1259,0,-59.7866:52:23:29:1079:869:23,29 . 1/1:-276.725,-25.8886,0:87:0:86:3201:0:0,86 1/1:-237.319,-21.9752,0:73:0:73:2754:0 . . . 1/1:-243.158,-19.4557,0:77:1:76:2856:39 1/1:-169.151,-15.6536,0:52:0:52:1955:0 . . . . . . . 1/1:-160.144,-15.3525,0:51:0:51:1841:0 . . . 1/1:-124.514,-11.4391,0:38:0:38:1436:0 . . . . . 1/1:-107.317,-9.93399,0:33:0:33:1239:0 +chrX 31697636 . A G 3952.64 . AB=0.413534;ABP=20.2841;AC=9;AF=0.5;AN=12;AO=110;CIGAR=1X;DP=1205;DPB=266;DPRA=0;EPP=3.32615;EPPR=3.0103;GTI=0;LEN=1;MEANALT=1;MQM=41.9636;MQMR=42;NS=1;NUMALT=1;ODDS=607.454;PAIRED=0.990909;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4088;QR=5917;RO=156;RPL=62;RPP=6.87947;RPPR=3.51141;RPR=48;RUN=1;SAF=65;SAP=10.9066;SAR=45;SF=0,2,6,10,24,25;SRF=95;SRP=19.1015;SRR=61;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_004013:exon10:c.T348C:p.N116N,DMD:NM_004020:exon10:c.T348C:p.N116N,DMD:NM_004021:exon10:c.T348C:p.N116N,DMD:NM_004022:exon10:c.T348C:p.N116N,DMD:NM_004023:exon10:c.T348C:p.N116N,DMD:NM_004011:exon25:c.T3705C:p.N1235N,DMD:NM_004012:exon25:c.T3696C:p.N1232N,DMD:NM_000109:exon53:c.T7704C:p.N2568N,DMD:NM_004006:exon53:c.T7728C:p.N2576N,DMD:NM_004009:exon53:c.T7716C:p.N2572N,DMD:NM_004010:exon53:c.T7359C:p.N2453N;1000g2015aug_all=0.181192;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1801188;CLNALLELEID=100676;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided;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|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=0.2027;ExAC_nontcga_ALL=0.1682;ExAC_nontcga_AFR=0.1021;ExAC_nontcga_AMR=0.0754;ExAC_nontcga_EAS=0.3541;ExAC_nontcga_FIN=0.1303;ExAC_nontcga_NFE=0.1856;ExAC_nontcga_OTH=0.1781;ExAC_nontcga_SAS=0.1391;AF=0.1567;AF_popmax=0.3446;AF_male=0.1527;AF_female=0.1590;AF_raw=0.1590;AF_afr=0.0935;AF_sas=.;AF_amr=0.1057;AF_eas=0.3446;AF_nfe=0.1820;AF_fin=0.1368;AF_asj=0.1628;AF_oth=0.1559;non_topmed_AF_popmax=0.3432;non_neuro_AF_popmax=0.3446;non_cancer_AF_popmax=.;controls_AF_popmax=0.3616;Kaviar_AF=0.166059;Kaviar_AC=25673;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.790576;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-273.416,0,-430.577:266:156:110:4088:5917:156,110 . 1/1:-459.878,-42.7463,0:142:0:142:5348:0 . . . 0/1:-376.854,0,-301.295:253:115:138:5272:4371:115,138 . . . 0/1:-356.448,0,-282.77:244:109:134:4968:4133:109,134 . . . . . . . . . . . . . 1/1:-235.517,-21.9752,0:73:0:73:2723:0:0,73 1/1:-721.147,-68.3338,0:227:0:227:8399:0:0,227 . . . . . . . . . . . +chrX 31893307 . T G 1962.36 . AB=0.414815;ABP=11.5193;AC=19;AF=0.5;AN=24;AO=56;CIGAR=1X;DP=1091;DPB=135;DPRA=0;EPP=18.5208;EPPR=44.818;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.9494;NS=1;NUMALT=1;ODDS=303.413;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2099;QR=2947;RO=79;RPL=31;RPP=4.40625;RPPR=3.69747;RPR=25;RUN=1;SAF=21;SAP=10.6105;SAR=35;SF=0,4,6,7,9,10,13,15,19,21,22,26;SRF=37;SRP=3.69747;SRR=42;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=DMD;GeneDetail.refGene=NM_004009:exon48:c.7083+1A>C\x3bNM_004023:exon5:UTR5\x3bNM_004012:exon20:c.3063+1A>C\x3bNM_004022:exon5:UTR5\x3bNM_004011:exon20:c.3072+1A>C\x3bNM_004020:exon5:UTR5\x3bNM_000109:exon48:c.7071+1A>C\x3bNM_004021:exon5:UTR5\x3bNM_004013:exon5:UTR5\x3bNM_004006:exon48:c.7095+1A>C\x3bNM_004010:exon48:c.6726+1A>C;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.183311;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800275;CLNALLELEID=177498;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.199;SIFT_converted_rankscore=0.204;SIFT_pred=T;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=0.002;LRT_converted_rankscore=0.386;LRT_pred=U;MutationTaster_score=0.689;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=P;MutationAssessor_score=0.345;MutationAssessor_score_rankscore=0.112;MutationAssessor_pred=N;FATHMM_score=1.24;FATHMM_converted_rankscore=0.367;FATHMM_pred=T;PROVEAN_score=-0.4;PROVEAN_converted_rankscore=0.138;PROVEAN_pred=N;VEST3_score=0.431;VEST3_rankscore=0.507;MetaSVM_score=-1.014;MetaSVM_rankscore=0.256;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=1.905;CADD_raw_rankscore=0.290;CADD_phred=15.62;DANN_score=0.987;DANN_rankscore=0.451;fathmm-MKL_coding_score=0.887;fathmm-MKL_coding_rankscore=0.485;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.480;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=5.18;GERP++_RS_rankscore=0.710;phyloP100way_vertebrate=2.607;phyloP100way_vertebrate_rankscore=0.457;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.987;phastCons20way_mammalian_rankscore=0.523;SiPhy_29way_logOdds=12.909;SiPhy_29way_logOdds_rankscore=0.574;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.0678;dbscSNV_RF_SCORE=0.496;esp6500siv2_ea=0.2178;ExAC_nontcga_ALL=0.2861;ExAC_nontcga_AFR=0.2012;ExAC_nontcga_AMR=0.5963;ExAC_nontcga_EAS=0.1238;ExAC_nontcga_FIN=0.2630;ExAC_nontcga_NFE=0.2783;ExAC_nontcga_OTH=0.2475;ExAC_nontcga_SAS=0.1757;AF=0.2027;AF_popmax=0.4669;AF_male=0.1940;AF_female=0.2076;AF_raw=0.2049;AF_afr=0.1571;AF_sas=.;AF_amr=0.4669;AF_eas=0.1010;AF_nfe=0.2234;AF_fin=0.1980;AF_asj=0.1676;AF_oth=0.2088;non_topmed_AF_popmax=0.4758;non_neuro_AF_popmax=0.4383;non_cancer_AF_popmax=.;controls_AF_popmax=0.4457;Kaviar_AF=0.208329;Kaviar_AC=32208;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.329880;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-141.154,0,-214.354:135:79:56:2099:2947:79,56 . . . 0/1:-167.271,0,-179.649:130:67:63:2388:2525 . 0/1:-139.373,0,-85.8537:90:37:53:1919:1298:37,53 1/1:-259.111,-24.0824,0:80:0:80:3000:0 . 0/1:-79.1124,0,-182.181:101:66:35:1261:2468:66,35 1/1:-311.186,-29.1999,0:97:0:97:3595:0:0,97 . . 1/1:-281.317,-26.1896,0:87:0:87:3251:0 . 1/1:-200.65,-18.6639,0:62:0:62:2314:0 . . . 1/1:-212.783,-19.522,0:70:1:68:2470:14 . 0/1:-120.686,0,-63.6471:70:26:44:1631:978:26,44 1/1:-215.087,-19.868,0:66:0:66:2479:0 . . . 1/1:-320.546,-31.0061,0:103:0:103:3720:0 . . . . . . . . . . +chrX 31986499 . G A 2354.20 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=74;CIGAR=1X;DP=74;DPB=74;DPRA=0;EPP=26.0162;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=107.191;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=2806;QR=0;RO=0;RPL=24;RPP=22.847;RPPR=0;RPR=50;RUN=1;SAF=37;SAP=3.0103;SAR=37;SF=36;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_004011:exon17:c.C2548T:p.R850W,DMD:NM_004012:exon17:c.C2539T:p.R847W,DMD:NM_000109:exon45:c.C6547T:p.R2183W,DMD:NM_004006:exon45:c.C6571T:p.R2191W,DMD:NM_004009:exon45:c.C6559T:p.R2187W,DMD:NM_004010:exon45:c.C6202T:p.R2068W;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs149322279;CLNALLELEID=194683;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|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=0.006;LRT_converted_rankscore=0.321;LRT_pred=U;MutationTaster_score=0.968;MutationTaster_converted_rankscore=0.810;MutationTaster_pred=D;MutationAssessor_score=2.555;MutationAssessor_score_rankscore=0.748;MutationAssessor_pred=M;FATHMM_score=0.98;FATHMM_converted_rankscore=0.421;FATHMM_pred=T;PROVEAN_score=-4.44;PROVEAN_converted_rankscore=0.776;PROVEAN_pred=D;VEST3_score=0.706;VEST3_rankscore=0.709;MetaSVM_score=-0.494;MetaSVM_rankscore=0.689;MetaSVM_pred=T;MetaLR_score=0.269;MetaLR_rankscore=0.641;MetaLR_pred=T;M-CAP_score=0.205;M-CAP_rankscore=0.870;M-CAP_pred=D;REVEL_score=0.403;REVEL_rankscore=0.720;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.561;CADD_raw_rankscore=0.903;CADD_phred=31;DANN_score=0.999;DANN_rankscore=0.976;fathmm-MKL_coding_score=0.941;fathmm-MKL_coding_rankscore=0.597;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.446;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=4.49;GERP++_RS_rankscore=0.540;phyloP100way_vertebrate=5.532;phyloP100way_vertebrate_rankscore=0.666;phyloP20way_mammalian=0.069;phyloP20way_mammalian_rankscore=0.176;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.997;phastCons20way_mammalian_rankscore=0.653;SiPhy_29way_logOdds=14.580;SiPhy_29way_logOdds_rankscore=0.677;Interpro_domain=.;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;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=9.96e-05;AF=0;AF_popmax=.;AF_male=0;AF_female=0;AF_raw=4.41e-05;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=0.0003687;Kaviar_AC=57;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.668045;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-242.847,-22.2762,0:74:0:74:2806:0 +chrX 32380996 . C T 4266.84 . AB=0.46332;ABP=6.03695;AC=25;AF=0.5;AN=30;AO=120;CIGAR=1X;DP=2839;DPB=259;DPRA=0;EPP=3.66174;EPPR=4.90057;GTI=0;LEN=1;MEANALT=1;MQM=41.9833;MQMR=41.741;NS=1;NUMALT=1;ODDS=675.259;PAIRED=0.991667;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4382;QR=5051;RO=139;RPL=75;RPP=19.2963;RPPR=12.7741;RPR=45;RUN=1;SAF=52;SAP=7.64277;SAR=68;SF=0,1,2,4,6,9,12,13,16,17,18,21,25,30,32;SRF=65;SRP=4.27569;SRR=74;TYPE=snp;ANNOVAR_DATE=2018-04-16;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;1000g2015aug_all=0.465166;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1801187;CLNALLELEID=100557;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736|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=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.357;LRT_pred=U;MutationTaster_score=0.004;MutationTaster_converted_rankscore=0.427;MutationTaster_pred=P;MutationAssessor_score=2.64;MutationAssessor_score_rankscore=0.775;MutationAssessor_pred=M;FATHMM_score=0.74;FATHMM_converted_rankscore=0.505;FATHMM_pred=T;PROVEAN_score=-2.41;PROVEAN_converted_rankscore=0.529;PROVEAN_pred=N;VEST3_score=0.355;VEST3_rankscore=0.459;MetaSVM_score=-0.904;MetaSVM_rankscore=0.476;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=0.308;REVEL_rankscore=0.633;MutPred_score=.;MutPred_rankscore=.;CADD_raw=6.788;CADD_raw_rankscore=0.924;CADD_phred=32;DANN_score=1.000;DANN_rankscore=1.000;fathmm-MKL_coding_score=0.961;fathmm-MKL_coding_rankscore=0.672;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=5.24;GERP++_RS_rankscore=0.728;phyloP100way_vertebrate=4.170;phyloP100way_vertebrate_rankscore=0.578;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.940;phastCons20way_mammalian_rankscore=0.414;SiPhy_29way_logOdds=17.920;SiPhy_29way_logOdds_rankscore=0.888;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.4770;ExAC_nontcga_ALL=0.5230;ExAC_nontcga_AFR=0.0738;ExAC_nontcga_AMR=0.7474;ExAC_nontcga_EAS=0.7351;ExAC_nontcga_FIN=0.5348;ExAC_nontcga_NFE=0.4859;ExAC_nontcga_OTH=0.5032;ExAC_nontcga_SAS=0.6651;AF=0.3918;AF_popmax=0.7265;AF_male=0.3837;AF_female=0.3962;AF_raw=0.3891;AF_afr=0.0766;AF_sas=.;AF_amr=0.6921;AF_eas=0.7265;AF_nfe=0.4728;AF_fin=0.5253;AF_asj=0.4181;AF_oth=0.5188;non_topmed_AF_popmax=0.7336;non_neuro_AF_popmax=0.7265;non_cancer_AF_popmax=.;controls_AF_popmax=0.7212;Kaviar_AF=0.482982;Kaviar_AC=74670;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.693670;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-302.441,0,-359.463:259:139:120:4382:5051:139,120 1/1:-143.727,-13.2453,0:44:0:44:1662:0 1/1:-554.234,-54.1854,0:180:0:180:6437:0 . 1/1:-660.814,-62.6142,0:208:0:208:7636:0 . 1/1:-603.642,-55.9916,0:186:0:186:6979:0:0,186 . . 0/1:-278.883,0,-271.305:214:107:107:3995:3852:107,107 . . 0/1:-542.03,0,-521.405:414:205:209:7705:7430:205,209 1/1:-455.018,-43.0473,0:143:0:143:5256:0 . . 1/1:-479.206,-44.5524,0:148:0:148:5533:0:0,148 0/1:-361.093,0,-460.708:320:176:142:5282:6394 1/1:-575.108,-50.6827,0:180:1:179:6736:36 . . 0/1:-193.467,0,-88.3379:112:39:72:2616:1395:39,72 . . . 1/1:-679.631,-64.1194,0:213:0:213:7848:0:0,213 . . . . 1/1:-396.995,-37.0267,0:123:0:123:4591:0 . 1/1:-305.938,-28.5979,0:95:0:95:3535:0 . . . . +chrX 32408311 . T C 1776.63 . AB=0;ABP=0;AC=7;AF=1;AN=10;AO=40;CIGAR=1X;DP=501;DPB=40;DPRA=0;EPP=39.7082;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.525;MQMR=0;NS=1;NUMALT=1;ODDS=60.0569;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1518;QR=0;RO=0;RPL=24;RPP=6.48466;RPPR=0;RPR=16;RUN=1;SAF=19;SAP=3.22745;SAR=21;SF=1,2,6,9,21;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0336424;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41303181;CLNALLELEID=100517;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_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0779;ExAC_nontcga_ALL=0.0624;ExAC_nontcga_AFR=0.0089;ExAC_nontcga_AMR=0.0518;ExAC_nontcga_EAS=0.0002;ExAC_nontcga_FIN=0.1233;ExAC_nontcga_NFE=0.0830;ExAC_nontcga_OTH=0.0851;ExAC_nontcga_SAS=0.0438;AF=0.0626;AF_popmax=0.0811;AF_male=0.0584;AF_female=0.0650;AF_raw=0.0630;AF_afr=0.0088;AF_sas=.;AF_amr=0.0477;AF_eas=0;AF_nfe=0.0811;AF_fin=0.1199;AF_asj=0.1257;AF_oth=0.0966;non_topmed_AF_popmax=0.0843;non_neuro_AF_popmax=0.0797;non_cancer_AF_popmax=.;controls_AF_popmax=0.0927;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\x3d95.437944;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . 1/1:-131.137,-12.0412,0:40:0:40:1518:0 1/1:-422.294,-37.8656,0:136:2:134:4915:33 . . . 0/1:-175.528,0,-154.521:126:60:66:2465:2223:60,66 . . 0/1:-144.308,0,-161.01:120:61:59:2095:2277:61,59 . . . . . . . . . . . 0/1:-64.6482,0,-139.169:79:51:28:1019:1895:51,28 . . . . . . . . . . . . . . . +chrX 32456458 . C T 865.24 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=27;CIGAR=1X;DP=27;DPB=27;DPRA=0;EPP=3.09072;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=42.0351;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1034;QR=0;RO=0;RPL=16;RPP=5.02092;RPPR=0;RPR=11;RUN=1;SAF=10;SAP=6.95112;SAR=17;SF=19;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon29:c.G3947A:p.R1316H,DMD:NM_004006:exon29:c.G3971A:p.R1324H,DMD:NM_004009:exon29:c.G3959A:p.R1320H,DMD:NM_004010:exon29:c.G3602A:p.R1201H;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs768990357;CLNALLELEID=470748;CLNDN=Duchenne_muscular_dystrophy;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Uncertain_significance;SIFT_score=0.004;SIFT_converted_rankscore=0.654;SIFT_pred=D;Polyphen2_HDIV_score=0.999;Polyphen2_HDIV_rankscore=0.899;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.994;Polyphen2_HVAR_rankscore=0.850;Polyphen2_HVAR_pred=D;LRT_score=0.002;LRT_converted_rankscore=0.370;LRT_pred=U;MutationTaster_score=1.000;MutationTaster_converted_rankscore=0.480;MutationTaster_pred=D;MutationAssessor_score=2.415;MutationAssessor_score_rankscore=0.700;MutationAssessor_pred=M;FATHMM_score=2.03;FATHMM_converted_rankscore=0.210;FATHMM_pred=T;PROVEAN_score=-2.84;PROVEAN_converted_rankscore=0.598;PROVEAN_pred=D;VEST3_score=0.704;VEST3_rankscore=0.708;MetaSVM_score=-0.900;MetaSVM_rankscore=0.480;MetaSVM_pred=T;MetaLR_score=0.157;MetaLR_rankscore=0.490;MetaLR_pred=T;M-CAP_score=0.928;M-CAP_rankscore=0.995;M-CAP_pred=D;REVEL_score=0.235;REVEL_rankscore=0.542;MutPred_score=0.42;MutPred_rankscore=0.463;CADD_raw=7.478;CADD_raw_rankscore=0.952;CADD_phred=34;DANN_score=0.999;DANN_rankscore=0.998;fathmm-MKL_coding_score=0.968;fathmm-MKL_coding_rankscore=0.710;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=5.82;GERP++_RS_rankscore=0.927;phyloP100way_vertebrate=5.008;phyloP100way_vertebrate_rankscore=0.635;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=18.667;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=1.325e-05;ExAC_nontcga_AFR=0;ExAC_nontcga_AMR=0;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=2.617e-05;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.757533;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 1/1:-89.5634,-8.12781,0:27:0:27:1034:0 . . . . . . . . . . . . . . . . . +chrX 32459449 . A G 665.82 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=22;CIGAR=1X;DP=22;DPB=22;DPRA=0;EPP=34.9902;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=35.1036;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=836;QR=0;RO=0;RPL=11;RPP=3.0103;RPPR=0;RPR=11;RUN=1;SAF=9;SAP=4.58955;SAR=13;SF=15;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0010596;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72468656;CLNALLELEID=100507;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=0.0089;ExAC_nontcga_ALL=0.0065;ExAC_nontcga_AFR=0.0013;ExAC_nontcga_AMR=0.0017;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0060;ExAC_nontcga_NFE=0.0106;ExAC_nontcga_OTH=0.0108;ExAC_nontcga_SAS=0.0029;AF=0.0068;AF_popmax=0.0110;AF_male=0.0056;AF_female=0.0075;AF_raw=0.0067;AF_afr=0.0017;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0.0110;AF_fin=0.0063;AF_asj=0;AF_oth=0.0050;non_topmed_AF_popmax=0.0122;non_neuro_AF_popmax=0.0107;non_cancer_AF_popmax=.;controls_AF_popmax=0.0151;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\x3d98.122956;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . 1/1:-72.5413,-6.62266,0:22:0:22:836:0 . . . . . . . . . . . . . . . . . . . . . +chrX 32472763 . CTTTTTTTTTTTTTACCTTCA CTTTTTTTTTTTTTTACCTTCA,CTTTTTTTTTTTTACCTTCA 221.89 . AB=0.404762;ABP=6.31921;AC=21,5;AF=0.5;AN=50;AO=17;CIGAR=1M1I20M;DP=763;DPB=42.8095;DPRA=0;EPP=18.4661;EPPR=16.9077;GTI=0;LEN=1;MEANALT=14;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=38.3335;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=597;QR=361;RO=10;RPL=10;RPP=4.1599;RPPR=3.87889;RPR=7;RUN=1;SAF=13;SAP=13.3567;SAR=4;SF=0,1,2,3,5,6,8,9,10,13,15,16,17,18,21,22,24,25,26,28,29,30,31,33,34;SRF=7;SRP=6.48466;SRR=3;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.464106;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5902031;CLNALLELEID=193126;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=0.4808;ExAC_nontcga_ALL=0.5004;ExAC_nontcga_AFR=0.2122;ExAC_nontcga_AMR=0.5216;ExAC_nontcga_EAS=0.5227;ExAC_nontcga_FIN=0.6202;ExAC_nontcga_NFE=0.5106;ExAC_nontcga_OTH=0.5634;ExAC_nontcga_SAS=0.5709;AF=0.5441;AF_popmax=0.7849;AF_male=0.5080;AF_female=0.5593;AF_raw=0.5351;AF_afr=0.2213;AF_sas=.;AF_amr=0.6941;AF_eas=0.7849;AF_nfe=0.6936;AF_fin=0.6122;AF_asj=0.6222;AF_oth=0.6816;non_topmed_AF_popmax=0.7894;non_neuro_AF_popmax=0.7849;non_cancer_AF_popmax=.;controls_AF_popmax=0.7657;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=.;ORegmiRNA=.;nCER95=Name\x3d97.106082;ALLELE_END;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs796618181;CLNALLELEID=100499;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0680;ExAC_nontcga_AFR=0.2218;ExAC_nontcga_AMR=0.0525;ExAC_nontcga_EAS=0.0530;ExAC_nontcga_FIN=0.0191;ExAC_nontcga_NFE=0.0592;ExAC_nontcga_OTH=0.0439;ExAC_nontcga_SAS=0.0412;AF=0.0035;AF_popmax=0.0132;AF_male=0.0007;AF_female=0.0047;AF_raw=0.0067;AF_afr=0.0012;AF_sas=.;AF_amr=0.0132;AF_eas=0;AF_nfe=0.0028;AF_fin=0.0248;AF_asj=0.0148;AF_oth=0.0090;non_topmed_AF_popmax=0.0144;non_neuro_AF_popmax=0.0147;non_cancer_AF_popmax=.;controls_AF_popmax=0.0833;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\x3d97.106082;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-43.5837,0,-23.4792,.,.,.:42:10:17,.:597,.:361:10,17 0/1:.,.,-10.0653,.,.,.:10:4:5,.:134,.:144 0/1:.,.,-5.58565,.,.,.:15:3:8,.:283,.:112 0/2:-11.9144,.,.,0,.,-18.3067:19:7:.,6:.,183:254:7,6 . 0/1:-30.7028,0,-20.5991,.,.,.:30:9:14,.:431,.:313:9,14 0/1:-32.4865,0,-4.09101,.,.,.:17:3:12,.:425,.:96:3,12 . 0/1:.,.,-15.6773,.,.,.:27:7:16,.:531,.:260 0/1:-12.5516,0,-30.7749,.,.,.:30:12:6,.:208,.:411:12,6 0/1:-45.8558,0,-46.4578,.,.,.:64:19:22,.:671,.:670:19,22 . . 0/1:.,.,-17.7288,.,.,.:51:9:28,.:800,.:331 . 0/2:.,.,.,.,.,-28.1313:26:11:.,12:.,404:405 0/2:-10.6139,.,.,0,.,-36.4438:25:14:.,5:.,188:479:14,5 0/1:.,.,-33.5106,.,.,.:49:15:24,.:860,.:546 0/1:.,.,-43.6878,.,.,.:29:16:7,.:219,.:587 . . 0/2:-9.85948,.,.,0,.,-37.1666:38:14:.,6:.,183:491:14,6 0/2:.,.,.,.,.,-57.2038:34:21:.,9:.,238:756 . 1/1:-19.0616,-2.10721,0,.,.,.:11:0:7,.:219,.:0:0,7 0/1:-65.5897,0,-18.7637,.,.,.:61:10:28,.:887,.:352:10,28 0/1:.,.,-8.5043,.,.,.:26:5:13,.:441,.:188 . 0/1:.,.,-14.1039,.,.,.:34:8:21,.:605,.:293 0/1:.,.,-14.6996,.,.,.:50:9:26,.:848,.:322 0/1:.,.,-20.9676,.,.,.:20:8:4,.:155,.:280 0/1:.,.,-17.5779,.,.,.:33:8:18,.:594,.:299 . 0/1:.,.,-1.27349,.,.,.:7:1:6,.:179,.:35 0/1:.,.,-5.51616,.,.,.:15:3:11,.:377,.:112 . . +chrX 32486756 . C T 2997.50 . AB=0.428571;ABP=9.52472;AC=4;AF=0.5;AN=6;AO=63;CIGAR=1X;DP=551;DPB=147;DPRA=0;EPP=12.9715;EPPR=13.3506;GTI=0;LEN=1;MEANALT=1;MQM=41.9365;MQMR=41.9762;NS=1;NUMALT=1;ODDS=345.65;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2408;QR=3129;RO=84;RPL=49;RPP=45.2334;RPPR=102.381;RPR=14;RUN=1;SAF=21;SAP=18.2106;SAR=42;SF=9,11,23;SRF=29;SRP=20.4855;SRR=55;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_000109:exon23:c.G2997A:p.S999S,DMD:NM_004006:exon23:c.G3021A:p.S1007S,DMD:NM_004009:exon23:c.G3009A:p.S1003S,DMD:NM_004010:exon23:c.G2652A:p.S884S;1000g2015aug_all=0.00874172;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs1800268;CLNALLELEID=100448;CLNDN=Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|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=0.0166;ExAC_nontcga_ALL=0.0123;ExAC_nontcga_AFR=0.0031;ExAC_nontcga_AMR=0.0058;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0029;ExAC_nontcga_NFE=0.0192;ExAC_nontcga_OTH=0.0131;ExAC_nontcga_SAS=0.0100;AF=0.0103;AF_popmax=0.0174;AF_male=0.0098;AF_female=0.0106;AF_raw=0.0105;AF_afr=0.0041;AF_sas=.;AF_amr=0.0066;AF_eas=0;AF_nfe=0.0174;AF_fin=0.0015;AF_asj=0.0056;AF_oth=0.0050;non_topmed_AF_popmax=0.0158;non_neuro_AF_popmax=0.0169;non_cancer_AF_popmax=.;controls_AF_popmax=0.0106;Kaviar_AF=0.0130852;Kaviar_AC=2023;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.797068;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-163.853,0,-226.544:147:84:63:2408:3129:84,63 . 1/1:-573.376,-48.096,0:187:3:184:6763:90 . . . . . . . . . . . 0/1:-232.328,0,-342.908:217:127:90:3446:4720 . . . . . . . . . . . . . +chrX 32503194 . T C 4303.42 . AB=0;ABP=0;AC=34;AF=1;AN=40;AO=245;CIGAR=1X;DP=3598;DPB=246;DPRA=0;EPP=4.08274;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.9918;MQMR=0;NS=1;NUMALT=1;ODDS=344.247;PAIRED=0.995918;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=9156;QR=0;RO=0;RPL=175;RPP=100.727;RPPR=0;RPR=70;RUN=1;SAF=99;SAP=22.589;SAR=146;SF=0,1,2,4,5,6,9,10,12,13,16,17,18,21,24,25,29,30,32,34;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;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;1000g2015aug_all=0.748344;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs228406;CLNALLELEID=177575;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=0.523;SIFT_converted_rankscore=0.085;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=0.154;Polyphen2_HVAR_pred=B;LRT_score=0.185;LRT_converted_rankscore=0.170;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=0.73;FATHMM_converted_rankscore=0.507;FATHMM_pred=T;PROVEAN_score=0.45;PROVEAN_converted_rankscore=0.032;PROVEAN_pred=N;VEST3_score=0.056;VEST3_rankscore=0.039;MetaSVM_score=-0.978;MetaSVM_rankscore=0.356;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=0.022;REVEL_rankscore=0.045;MutPred_score=.;MutPred_rankscore=.;CADD_raw=0.631;CADD_raw_rankscore=0.154;CADD_phred=8.366;DANN_score=0.803;DANN_rankscore=0.127;fathmm-MKL_coding_score=0.573;fathmm-MKL_coding_rankscore=0.301;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=0.001;GenoCanyon_score_rankscore=0.085;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=3.07;GERP++_RS_rankscore=0.343;phyloP100way_vertebrate=0.937;phyloP100way_vertebrate_rankscore=0.283;phyloP20way_mammalian=-0.288;phyloP20way_mammalian_rankscore=0.083;phastCons100way_vertebrate=0.960;phastCons100way_vertebrate_rankscore=0.334;phastCons20way_mammalian=0.978;phastCons20way_mammalian_rankscore=0.483;SiPhy_29way_logOdds=5.710;SiPhy_29way_logOdds_rankscore=0.171;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.6629;ExAC_nontcga_ALL=0.7288;ExAC_nontcga_AFR=0.6260;ExAC_nontcga_AMR=0.8685;ExAC_nontcga_EAS=0.8856;ExAC_nontcga_FIN=0.8215;ExAC_nontcga_NFE=0.6665;ExAC_nontcga_OTH=0.7173;ExAC_nontcga_SAS=0.7827;AF=0.6951;AF_popmax=0.8910;AF_male=0.6861;AF_female=0.7001;AF_raw=0.6935;AF_afr=0.6300;AF_sas=.;AF_amr=0.8129;AF_eas=0.8910;AF_nfe=0.6725;AF_fin=0.8185;AF_asj=0.6188;AF_oth=0.7538;non_topmed_AF_popmax=0.8941;non_neuro_AF_popmax=0.8910;non_cancer_AF_popmax=.;controls_AF_popmax=0.8752;Kaviar_AF=0.0004528;Kaviar_AC=70;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.624183;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-791.483,-73.7524,0:246:0:245:9156:0:0,245 1/1:-164.921,-15.0515,0:50:0:50:1906:0 1/1:-310.266,-29.5009,0:99:0:98:3596:0 . 1/1:-685.696,-64.7215,0:215:0:215:7942:0 0/1:-347.186,0,-302.221:249:115:134:4891:4368:115,134 1/1:-533.767,-49.971,0:166:0:166:6169:0:0,166 . . 0/1:-323.106,0,-231.467:213:92:121:4473:3428:92,121 0/1:-324.602,0,-338.677:253:128:124:4628:4820:128,124 . 1/1:-1244.76,-115.055,0:388:1:386:14419:16:1,386 1/1:-508.723,-47.1679,0:162:1:161:5897:16 . . 1/1:-373.502,-32.099,0:119:1:118:4371:39:1,118 0/1:-328.519,0,-520.766:325:190:135:4924:7165 0/1:-190.576,0,-162.712:137:64:73:2674:2353 . . 0/1:-71.2648,0,-233.535:121:86:35:1239:3112:86,35 . . 1/1:-198.094,-18.6639,0:62:0:62:2284:0:0,62 1/1:-775.506,-72.7555,0:247:1:246:9016:16:1,246 . . . 1/1:-601.721,-60.206,0:200:0:200:6993:0 1/1:-388.85,-36.1236,0:120:0:120:4497:0 . 1/1:-347.774,-32.2102,0:107:0:107:4021:0 . 1/1:-373.918,-32.8794,0:119:2:117:4357:31 . . +chrX 32563263 . A G 1390.97 . AB=0.403226;ABP=8.05372;AC=25;AF=0.5;AN=30;AO=25;CIGAR=1X;DP=980;DPB=62;DPRA=0;EPP=7.26639;EPPR=24.1968;GTI=0;LEN=1;MEANALT=1;MQM=40.56;MQMR=42;NS=1;NUMALT=1;ODDS=118.057;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=909;QR=1390;RO=37;RPL=6;RPP=17.6895;RPPR=12.9286;RPR=19;RUN=1;SAF=15;SAP=5.18177;SAR=10;SF=9,12,15,17,18,19,21,22,23,26,28,29,30,31,33;SRF=21;SRP=4.47751;SRR=16;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.412185;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs228373;CLNALLELEID=100395;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_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.2398;ExAC_nontcga_ALL=0.3262;ExAC_nontcga_AFR=0.4833;ExAC_nontcga_AMR=0.4070;ExAC_nontcga_EAS=0.5526;ExAC_nontcga_FIN=0.2852;ExAC_nontcga_NFE=0.2445;ExAC_nontcga_OTH=0.3108;ExAC_nontcga_SAS=0.3208;AF=0.3182;AF_popmax=0.5265;AF_male=0.3153;AF_female=0.3199;AF_raw=0.3213;AF_afr=0.4711;AF_sas=.;AF_amr=0.4154;AF_eas=0.5265;AF_nfe=0.2241;AF_fin=0.2831;AF_asj=0.2865;AF_oth=0.2610;non_topmed_AF_popmax=0.5283;non_neuro_AF_popmax=0.5265;non_cancer_AF_popmax=.;controls_AF_popmax=0.5425;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\x3d96.672675;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-59.2714,0,-101.709:62:37:25:909:1390:37,25 . . 0/1:-235.139,0,-217.644:173:84:89:3338:3131:84,89 . . 1/1:-166.445,-15.6536,0:52:0:52:1923:0 . 0/1:-133.73,0,-127.71:100:48:52:1892:1823 1/1:-206.471,-19.567,0:66:0:65:2381:0 1/1:-143.401,-13.2453,0:44:0:44:1668:0 . 0/1:-43.8758,0,-70.3931:46:27:19:663:972:27,19 1/1:-110.307,-10.5361,0:35:0:35:1271:0 0/1:-184.755,0,-100.651:108:41:67:2511:1541 . . 1/1:-195.385,-18.6639,0:62:0:62:2250:0 . 1/1:-131.065,-12.3422,0:41:0:41:1513:0 1/1:-289.516,-27.6948,0:94:0:92:3356:0 1/1:-83.5742,-7.52575,0:25:0:25:966:0 1/1:-82.2568,-7.82678,0:26:0:26:947:0 . 1/1:-151.366,-13.8474,0:46:0:46:1746:0 . . . +chrX 32591811 . A G 1837.57 . AB=0.529851;ABP=4.04742;AC=14;AF=0.5;AN=18;AO=71;CIGAR=1X;DP=870;DPB=134;DPRA=0;EPP=9.89173;EPPR=10.7656;GTI=0;LEN=1;MEANALT=1;MQM=41.7465;MQMR=41.6984;NS=1;NUMALT=1;ODDS=340.398;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2679;QR=2274;RO=63;RPL=34;RPP=3.28556;RPPR=3.04477;RPR=37;RUN=1;SAF=30;SAP=6.71098;SAR=41;SF=5,8,10,12,17,21,31,34,35;SRF=25;SRP=8.83536;SRR=38;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0731126;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5927082;CLNALLELEID=100377;CLNDN=not_specified;CLNDISDB=MedGen:CN169374;CLNREVSTAT=criteria_provided,_single_submitter;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0974;ExAC_nontcga_AFR=0.0524;ExAC_nontcga_AMR=0.0329;ExAC_nontcga_EAS=0.0218;ExAC_nontcga_FIN=0.1088;ExAC_nontcga_NFE=0.1271;ExAC_nontcga_OTH=0.0843;ExAC_nontcga_SAS=0.1189;AF=0.0926;AF_popmax=0.1271;AF_male=0.0905;AF_female=0.0938;AF_raw=0.0937;AF_afr=0.0460;AF_sas=.;AF_amr=0.0585;AF_eas=0.0149;AF_nfe=0.1271;AF_fin=0.0879;AF_asj=0.1117;AF_oth=0.1072;non_topmed_AF_popmax=0.1281;non_neuro_AF_popmax=0.1268;non_cancer_AF_popmax=.;controls_AF_popmax=0.1319;Kaviar_AF=0.0958267;Kaviar_AC=14815;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d95.774370;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-190.291,0,-155.448:134:63:71:2679:2274:63,71 . . 1/1:-188.022,-17.1587,0:57:0:57:2174:0 . 1/1:-362.282,-33.4143,0:111:0:111:4187:0:0,111 . 0/1:-205.147,0,-254.045:177:96:81:3038:3557:96,81 . . . . 0/1:-211.36,0,-195.057:153:74:79:2974:2801 . . . 0/1:-34.1864,0,-151.173:72:54:18:642:1992:54,18 . . . . . . . . . 1/1:-172.345,-10.8217,0:59:2:57:2063:76 . . 1/1:-199.945,-18.6639,0:62:0:62:2320:0 1/1:-141.566,-13.5464,0:45:0:45:1631:0 . +chrX 32591931 . T C 2918.73 . AB=0.578723;ABP=15.6603;AC=14;AF=0.5;AN=18;AO=136;CIGAR=1X;DP=1337;DPB=235;DPRA=0;EPP=5.30951;EPPR=7.94546;GTI=0;LEN=1;MEANALT=1;MQM=41.9853;MQMR=41.8182;NS=1;NUMALT=1;ODDS=541.717;PAIRED=0.992647;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4964;QR=3634;RO=99;RPL=67;RPP=3.07417;RPPR=3.03223;RPR=69;RUN=1;SAF=65;SAP=3.5851;SAR=71;SF=5,8,10,12,17,21,31,34,35;SRF=44;SRP=5.66432;SRR=55;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=DMD:NM_000109:exon14:c.A1611G:p.R537R,DMD:NM_004006:exon14:c.A1635G:p.R545R,DMD:NM_004009:exon14:c.A1623G:p.R541R,DMD:NM_004010:exon14:c.A1266G:p.R422R;1000g2015aug_all=0.110464;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs5927083;CLNALLELEID=100376;CLNDN=Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype|not_provided;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|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=0.1225;ExAC_nontcga_ALL=0.1139;ExAC_nontcga_AFR=0.1660;ExAC_nontcga_AMR=0.0394;ExAC_nontcga_EAS=0.0225;ExAC_nontcga_FIN=0.1147;ExAC_nontcga_NFE=0.1313;ExAC_nontcga_OTH=0.0974;ExAC_nontcga_SAS=0.1328;AF=0.1250;AF_popmax=0.1627;AF_male=0.1207;AF_female=0.1274;AF_raw=0.1270;AF_afr=0.1627;AF_sas=.;AF_amr=0.0662;AF_eas=0.0129;AF_nfe=0.1278;AF_fin=0.0893;AF_asj=0.1011;AF_oth=0.1176;non_topmed_AF_popmax=0.1622;non_neuro_AF_popmax=0.1697;non_cancer_AF_popmax=.;controls_AF_popmax=0.1749;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\x3d99.442988;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-359.476,0,-243.86:235:99:136:4964:3634:99,136 . . 1/1:-185.165,-17.7608,0:59:0:59:2144:0 . 1/1:-610.653,-56.8947,0:189:0:189:7057:0:0,189 . 0/1:-372.111,0,-309.022:261:121:140:5204:4473:121,140 . . . . 0/1:-365.814,0,-293.291:256:118:138:5118:4296 . . . 0/1:-58.6749,0,-214.305:107:78:29:1046:2839:78,29 . . . . . . . . . 1/1:-283.917,-27.3937,0:91:0:91:3272:0 . . 1/1:-247.785,-22.8783,0:76:0:76:2860:0 1/1:-202.084,-18.9649,0:63:0:63:2325:0 . +chrX 32613880 . T A 1077.02 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=35;CIGAR=1X;DP=35;DPB=35;DPRA=0;EPP=4.56135;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=53.1255;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1280;QR=0;RO=0;RPL=23;RPP=10.5174;RPPR=0;RPR=12;RUN=1;SAF=18;SAP=3.07234;SAR=17;SF=33;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon13:c.A1572T:p.Q524H,DMD:NM_004006:exon13:c.A1596T:p.Q532H,DMD:NM_004009:exon13:c.A1584T:p.Q528H,DMD:NM_004010:exon13:c.A1227T:p.Q409H;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=.;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.001;SIFT_converted_rankscore=0.784;SIFT_pred=D;Polyphen2_HDIV_score=0.794;Polyphen2_HDIV_rankscore=0.657;Polyphen2_HDIV_pred=P;Polyphen2_HVAR_score=0.694;Polyphen2_HVAR_rankscore=0.683;Polyphen2_HVAR_pred=P;LRT_score=0.003;LRT_converted_rankscore=0.356;LRT_pred=U;MutationTaster_score=0.862;MutationTaster_converted_rankscore=0.283;MutationTaster_pred=N;MutationAssessor_score=2.485;MutationAssessor_score_rankscore=0.726;MutationAssessor_pred=M;FATHMM_score=0.69;FATHMM_converted_rankscore=0.517;FATHMM_pred=T;PROVEAN_score=-2.94;PROVEAN_converted_rankscore=0.734;PROVEAN_pred=D;VEST3_score=0.437;VEST3_rankscore=0.492;MetaSVM_score=-0.679;MetaSVM_rankscore=0.614;MetaSVM_pred=T;MetaLR_score=0.222;MetaLR_rankscore=0.586;MetaLR_pred=T;M-CAP_score=0.024;M-CAP_rankscore=0.476;M-CAP_pred=T;REVEL_score=0.220;REVEL_rankscore=0.520;MutPred_score=0.541;MutPred_rankscore=0.653;CADD_raw=3.637;CADD_raw_rankscore=0.494;CADD_phred=23.2;DANN_score=0.994;DANN_rankscore=0.622;fathmm-MKL_coding_score=0.784;fathmm-MKL_coding_rankscore=0.384;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.071;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=-3.54;GERP++_RS_rankscore=0.043;phyloP100way_vertebrate=0.125;phyloP100way_vertebrate_rankscore=0.155;phyloP20way_mammalian=0.113;phyloP20way_mammalian_rankscore=0.207;phastCons100way_vertebrate=0.981;phastCons100way_vertebrate_rankscore=0.351;phastCons20way_mammalian=0.991;phastCons20way_mammalian_rankscore=0.552;SiPhy_29way_logOdds=13.483;SiPhy_29way_logOdds_rankscore=0.606;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.672235;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-111.22,-10.5361,0:35:0:35:1280:0 . . . +chrX 32632565 . T C 2479.91 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=82;CIGAR=1X;DP=83;DPB=83;DPRA=0;EPP=8.20065;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=113.187;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2968;QR=18;RO=1;RPL=57;RPP=30.1272;RPPR=5.18177;RPR=25;RUN=1;SAF=25;SAP=30.1272;SAR=57;SF=13;SRF=0;SRP=5.18177;SRR=1;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=DMD:NM_000109:exon12:c.A1313G:p.H438R,DMD:NM_004006:exon12:c.A1337G:p.H446R,DMD:NM_004009:exon12:c.A1325G:p.H442R,DMD:NM_004010:exon12:c.A968G:p.H323R;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs72468699;CLNALLELEID=100361;CLNDN=Primary_dilated_cardiomyopathy|Left_ventricular_noncompaction_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:0011664,MedGen:C4021133|MedGen:CN169374|MedGen:CN230736;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=0.999;Polyphen2_HDIV_rankscore=0.764;Polyphen2_HDIV_pred=D;Polyphen2_HVAR_score=0.964;Polyphen2_HVAR_rankscore=0.782;Polyphen2_HVAR_pred=D;LRT_score=0.003;LRT_converted_rankscore=0.359;LRT_pred=U;MutationTaster_score=0.995;MutationTaster_converted_rankscore=0.424;MutationTaster_pred=D;MutationAssessor_score=2.85;MutationAssessor_score_rankscore=0.831;MutationAssessor_pred=M;FATHMM_score=0.76;FATHMM_converted_rankscore=0.499;FATHMM_pred=T;PROVEAN_score=-4.91;PROVEAN_converted_rankscore=0.944;PROVEAN_pred=D;VEST3_score=0.688;VEST3_rankscore=0.768;MetaSVM_score=-0.331;MetaSVM_rankscore=0.741;MetaSVM_pred=T;MetaLR_score=0.323;MetaLR_rankscore=0.692;MetaLR_pred=T;M-CAP_score=0.108;M-CAP_rankscore=0.786;M-CAP_pred=D;REVEL_score=0.366;REVEL_rankscore=0.689;MutPred_score=.;MutPred_rankscore=.;CADD_raw=4.518;CADD_raw_rankscore=0.605;CADD_phred=24.3;DANN_score=0.997;DANN_rankscore=0.833;fathmm-MKL_coding_score=0.944;fathmm-MKL_coding_rankscore=0.608;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=0.999;GenoCanyon_score_rankscore=0.398;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=5.62;GERP++_RS_rankscore=0.857;phyloP100way_vertebrate=6.662;phyloP100way_vertebrate_rankscore=0.741;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=13.876;SiPhy_29way_logOdds_rankscore=0.630;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;ExAC_nontcga_AMR=0.0003;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0020;ExAC_nontcga_NFE=0.0004;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0.0001;AF=0.0002;AF_popmax=.;AF_male=0;AF_female=0.0003;AF_raw=0.0002;AF_afr=0;AF_sas=.;AF_amr=0;AF_eas=0;AF_nfe=0;AF_fin=0.0012;AF_asj=0;AF_oth=0.0012;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=Name\x3d99.395139;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . 1/1:-256.271,-23.1872,0:83:1:82:2968:18 . . . . . . . . . . . . . . . . . . . . . . . +chrX 32867945 . TAAAAAAAATACACT TAAAAAAAAATACACT 1917.88 . AB=0.537975;ABP=4.98936;AC=8;AF=0.5;AN=12;AO=85;CIGAR=1M1I14M;DP=712;DPB=163.867;DPRA=0;EPP=24.4951;EPPR=34.7758;GTI=0;LEN=1;MEANALT=3;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=380.368;PAIRED=1;PAIREDR=1;PAO=0.5;PQA=19.5;PQR=19.5;PRO=0.5;QA=3209;QR=2572;RO=70;RPL=42;RPP=3.03585;RPPR=15.4187;RPR=43;RUN=1;SAF=52;SAP=12.2327;SAR=33;SF=0,9,12,16,18,35;SRF=40;SRP=6.1124;SRR=30;TYPE=ins;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=DMD;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0762914;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3834997;CLNALLELEID=100744;CLNDN=Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified;CLNDISDB=MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|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=0.1180;ExAC_nontcga_ALL=0.0938;ExAC_nontcga_AFR=0.0460;ExAC_nontcga_AMR=0.0467;ExAC_nontcga_EAS=0.1290;ExAC_nontcga_FIN=0.0874;ExAC_nontcga_NFE=0.1140;ExAC_nontcga_OTH=0.1326;ExAC_nontcga_SAS=0.0754;AF=0.0922;AF_popmax=0.1484;AF_male=0.0815;AF_female=0.0981;AF_raw=0.0955;AF_afr=0.0473;AF_sas=.;AF_amr=0.0491;AF_eas=0.1484;AF_nfe=0.1136;AF_fin=0.0851;AF_asj=0.1420;AF_oth=0.1102;non_topmed_AF_popmax=0.1485;non_neuro_AF_popmax=0.1484;non_cancer_AF_popmax=.;controls_AF_popmax=0.1303;Kaviar_AF=0.0020957;Kaviar_AC=324;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.964466;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-230.277,0,-176.56:158:70:85:3209:2572:70,85 . . . . . . . . 0/1:-129.664,0,-159.295:116:60:52:1893:2234:60,52 . . 0/1:-278.47,0,-229.743:207:90:105:3892:3319:90,105 . . . 1/1:-224.739,-15.931,0:76:2:73:2671:75:2,73 . 0/1:.,.,-84.1784:89:34:50:1825:1259 . . . . . . . . . . . . . . . . 1/1:.,.,0:66:0:64:2380:0 . +chrX 100653950 . T C 1764.31 . AB=0.429752;ABP=8.19671;AC=12;AF=0.5;AN=14;AO=52;CIGAR=1X;DP=570;DPB=121;DPRA=0;EPP=7.18621;EPPR=4.55236;GTI=0;LEN=1;MEANALT=1;MQM=40.9231;MQMR=41.971;NS=1;NUMALT=1;ODDS=260.333;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1855;QR=2588;RO=69;RPL=35;RPP=16.5402;RPPR=46.0936;RPR=17;RUN=1;SAF=14;SAP=27.0635;SAR=38;SF=5,13,19,20,23,28,31;SRF=15;SRP=50.8771;SRR=54;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=GLA\x3bRPL36A-HNRNPH2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.16106;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2071397;CLNALLELEID=98467;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=0.1205;ExAC_nontcga_ALL=0.1477;ExAC_nontcga_AFR=0.1543;ExAC_nontcga_AMR=0.1395;ExAC_nontcga_EAS=0.0761;ExAC_nontcga_FIN=0.0930;ExAC_nontcga_NFE=0.1179;ExAC_nontcga_OTH=0.0896;ExAC_nontcga_SAS=0.3351;AF=0.1234;AF_popmax=0.1427;AF_male=0.1232;AF_female=0.1236;AF_raw=0.1252;AF_afr=0.1427;AF_sas=.;AF_amr=0.1357;AF_eas=0.0936;AF_nfe=0.1221;AF_fin=0.0967;AF_asj=0.1111;AF_oth=0.1172;non_topmed_AF_popmax=0.1429;non_neuro_AF_popmax=0.1483;non_cancer_AF_popmax=.;controls_AF_popmax=0.1529;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:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-123.806,0,-187.745:121:69:52:1855:2588:69,52 . . . . . . . 1/1:-293.532,-29.1999,0:97:0:97:3366:0 . . . . . 1/1:-189.541,-18.0618,0:60:0:60:2177:0 1/1:-211.115,-19.868,0:66:0:66:2431:0:0,66 . . 0/1:-146.935,0,-143.115:111:55:56:2073:2043 . . . . 1/1:-166.831,-16.8577,0:56:0:56:1923:0 . . 1/1:-176.439,-15.7635,0:59:1:58:2043:20 . . . . . +chrX 100662901 . G A 5381.56 . AB=0.436019;ABP=18.0151;AC=10;AF=0.5;AN=12;AO=184;CIGAR=1X;DP=1591;DPB=422;DPRA=0;EPP=3.0103;EPPR=3.59423;GTI=0;LEN=1;MEANALT=1;MQM=41.6957;MQMR=41.8109;NS=1;NUMALT=1;ODDS=1022.72;PAIRED=0.994565;PAIREDR=0.995798;PAO=0;PQA=0;PQR=0;PRO=0;QA=6697;QR=8483;RO=238;RPL=94;RPP=3.19912;RPPR=5.96642;RPR=90;RUN=1;SAF=94;SAP=3.19912;SAR=90;SF=5,19,20,23,28,31;SRF=125;SRP=4.32413;SRR=113;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=GLA;GeneDetail.refGene=NM_000169:c.-10C>T;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.124503;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2071225;CLNALLELEID=44944;CLNDN=Fabry_disease|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED_CT:16652001|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|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=0.0605;ExAC_nontcga_ALL=0.0998;ExAC_nontcga_AFR=0.0682;ExAC_nontcga_AMR=0.1225;ExAC_nontcga_EAS=0.0714;ExAC_nontcga_FIN=0.0647;ExAC_nontcga_NFE=0.0584;ExAC_nontcga_OTH=0.0651;ExAC_nontcga_SAS=0.2939;AF=0.0654;AF_popmax=0.0978;AF_male=0.0635;AF_female=0.0665;AF_raw=0.0666;AF_afr=0.0631;AF_sas=.;AF_amr=0.0978;AF_eas=0.0782;AF_nfe=0.0608;AF_fin=0.0704;AF_asj=0.0393;AF_oth=0.0932;non_topmed_AF_popmax=0.0992;non_neuro_AF_popmax=0.0869;non_cancer_AF_popmax=.;controls_AF_popmax=0.0879;Kaviar_AF=4.53e-05;Kaviar_AC=7;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000247628|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000091|hsa-miR-33a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1883615|N/A|STAT1|PAZAR,OREG1615371|N/A|FOS|PAZAR,OREG1780457|N/A|RBL2|PAZAR,OREG1814921|N/A|RBL2|PAZAR,OREG1255188|N/A|SMARCA4|PAZAR,OREG1793040|N/A|RBL2|PAZAR,OREG1224868|N/A|SMARCA4|PAZAR,OREG1799332|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-452.804,0,-609.759:422:238:184:6697:8483:238,184 . . . . . . . . . . . . . 1/1:-621.891,-58.8067,0:200:1:199:7190:14 1/1:-690.501,-66.2266,0:220:0:220:8000:0:0,220 . . 0/1:-664.382,0,-545.665:484:222:262:9336:7960 . . . . 1/1:-466.631,-44.8535,0:149:0:149:5365:0 . . 1/1:-368.964,-34.9195,0:116:0:116:4241:0 . . . . . +chrX 100662903 . C T 6871.48 . AB=0.472318;ABP=6.85734;AC=1;AF=0.5;AN=2;AO=273;CIGAR=1X;DP=578;DPB=578;DPRA=0;EPP=3.65458;EPPR=3.46745;GTI=0;LEN=1;MEANALT=2;MQM=41.7363;MQMR=41.9375;NS=1;NUMALT=1;ODDS=1582.22;PAIRED=0.996337;PAIREDR=0.996711;PAO=0;PQA=0;PQR=0;PRO=0;QA=10080;QR=11064;RO=304;RPL=127;RPP=5.88173;RPPR=3.03887;RPR=146;RUN=1;SAF=141;SAP=3.65458;SAR=132;SF=12;SRF=163;SRP=6.46751;SRR=141;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=GLA;GeneDetail.refGene=NM_000169:c.-12G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0988079;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs3027585;CLNALLELEID=51619;CLNDN=Fabry_disease|Hypertrophic_cardiomyopathy|not_specified|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001071,MedGen:C0002986,OMIM:301500,Orphanet:ORPHA324,SNOMED_CT:16652001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|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=0.0303;ExAC_nontcga_ALL=0.0639;ExAC_nontcga_AFR=0.1428;ExAC_nontcga_AMR=0.1383;ExAC_nontcga_EAS=0.0400;ExAC_nontcga_FIN=0.0086;ExAC_nontcga_NFE=0.0278;ExAC_nontcga_OTH=0.0411;ExAC_nontcga_SAS=0.1167;AF=0.0606;AF_popmax=0.1514;AF_male=0.0605;AF_female=0.0607;AF_raw=0.0626;AF_afr=0.1514;AF_sas=.;AF_amr=0.1472;AF_eas=0.0286;AF_nfe=0.0249;AF_fin=0.0095;AF_asj=0.0057;AF_oth=0.0359;non_topmed_AF_popmax=0.1520;non_neuro_AF_popmax=0.1585;non_cancer_AF_popmax=.;controls_AF_popmax=0.1967;Kaviar_AF=3.88e-05;Kaviar_AC=6;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.0400763::-0.353127;Heart_Left_Ventricle=Heart_Left_Ventricle::0.0313653::-0.47818;ENSEMBLReg=Name\x3dENSR00000247628|Promoter;ENSTFBS=.;ENSmiRNA=Name\x3dMIMAT0000091|hsa-miR-33a-5p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1224868|N/A|SMARCA4|PAZAR,OREG1799332|N/A|RBL2|PAZAR,OREG1793040|N/A|RBL2|PAZAR,OREG1814921|N/A|RBL2|PAZAR,OREG1780457|N/A|RBL2|PAZAR,OREG1255188|N/A|SMARCA4|PAZAR,OREG1883615|N/A|STAT1|PAZAR,OREG1615371|N/A|FOS|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-695.353,0,-786.333:578:304:273:10080:11064:304,273 . . . . . . . . . . . . . . . . . . . . . . . . +chrX 108868153 . G A 1861.34 . AB=0.384211;ABP=25.1365;AC=9;AF=0.5;AN=12;AO=73;CIGAR=1X;DP=1098;DPB=190;DPRA=0;EPP=11.607;EPPR=23.9875;GTI=0;LEN=1;MEANALT=2;MQM=36.6027;MQMR=38.7453;NS=1;NUMALT=1;ODDS=236.928;PAIRED=0.958904;PAIREDR=0.943396;PAO=0;PQA=0;PQR=0;PRO=0;QA=2030;QR=2876;RO=106;RPL=47;RPP=16.1284;RPPR=14.81;RPR=26;RUN=1;SAF=37;SAP=3.04005;SAR=36;SF=9,15,17,23,32,34;SRF=44;SRP=9.64763;SRR=62;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=KCNE5;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=KCNE5:NM_012282:exon1:c.C97T:p.P33S;1000g2015aug_all=0.0519205;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs17003955;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.405;SIFT_converted_rankscore=0.103;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=0.610;LRT_converted_rankscore=0.109;LRT_pred=N;MutationTaster_score=1;MutationTaster_converted_rankscore=0.090;MutationTaster_pred=P;MutationAssessor_score=-0.55;MutationAssessor_score_rankscore=0.024;MutationAssessor_pred=N;FATHMM_score=-0.37;FATHMM_converted_rankscore=0.689;FATHMM_pred=T;PROVEAN_score=-0.8;PROVEAN_converted_rankscore=0.221;PROVEAN_pred=N;VEST3_score=0.048;VEST3_rankscore=0.029;MetaSVM_score=-1.091;MetaSVM_rankscore=0.054;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=0.072;REVEL_rankscore=0.215;MutPred_score=.;MutPred_rankscore=.;CADD_raw=-2.020;CADD_raw_rankscore=0.008;CADD_phred=0.001;DANN_score=0.759;DANN_rankscore=0.109;fathmm-MKL_coding_score=0.121;fathmm-MKL_coding_rankscore=0.168;fathmm-MKL_coding_pred=N;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.411;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=1.04;GERP++_RS_rankscore=0.191;phyloP100way_vertebrate=0.180;phyloP100way_vertebrate_rankscore=0.165;phyloP20way_mammalian=0.076;phyloP20way_mammalian_rankscore=0.183;phastCons100way_vertebrate=0.002;phastCons100way_vertebrate_rankscore=0.151;phastCons20way_mammalian=0.257;phastCons20way_mammalian_rankscore=0.229;SiPhy_29way_logOdds=0.560;SiPhy_29way_logOdds_rankscore=0.006;Interpro_domain=.;GTEx_V6p_gene=ENSG00000176076.6;GTEx_V6p_tissue=Whole_Blood;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.1424;ExAC_nontcga_ALL=0.1196;ExAC_nontcga_AFR=0.0247;ExAC_nontcga_AMR=0.0528;ExAC_nontcga_EAS=0.0005;ExAC_nontcga_FIN=0.1572;ExAC_nontcga_NFE=0.1811;ExAC_nontcga_OTH=0.1502;ExAC_nontcga_SAS=0.0645;AF=0.0994;AF_popmax=0.1485;AF_male=0.0950;AF_female=0.1019;AF_raw=0.1011;AF_afr=0.0179;AF_sas=.;AF_amr=0.0548;AF_eas=0;AF_nfe=0.1485;AF_fin=0.1263;AF_asj=0.2189;AF_oth=0.1124;non_topmed_AF_popmax=0.1463;non_neuro_AF_popmax=0.1475;non_cancer_AF_popmax=.;controls_AF_popmax=0.1419;Kaviar_AF=0.0867841;Kaviar_AC=13417;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00000247934|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d97.683287;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . 0/1:-112.707,0,-192.72:190:106:73:2030:2876:106,73 . . . . . 1/1:-238.703,-17.2903,0:140:18:117:3135:264 . 0/1:-155.457,0,-284.531:251:143:100:2770:4257 . . . . . 0/1:-206.609,0,-311.191:286:160:124:3448:4626 . . . . . . . . 1/1:-242.537,-20.7529,0:131:14:110:3176:194 . 1/1:-196.775,-19.2538,0:100:8:89:2537:112 . . +chrX 119573169 . G A 366.33 . AB=0.346154;ABP=13.7006;AC=1;AF=0.5;AN=2;AO=18;CIGAR=1X;DP=52;DPB=52;DPRA=0;EPP=15.074;EPPR=32.0291;GTI=0;LEN=1;MEANALT=2;MQM=42;MQMR=41.9394;NS=1;NUMALT=1;ODDS=84.3497;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=691;QR=1234;RO=33;RPL=12;RPP=7.35324;RPPR=22.0271;RPR=6;RUN=1;SAF=8;SAP=3.49285;SAR=10;SF=18;SRF=19;SRP=4.65535;SRR=14;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs368826364;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;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=0.0001;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0;ExAC_nontcga_NFE=0.0006;ExAC_nontcga_OTH=0;ExAC_nontcga_SAS=0;AF=9.177e-05;AF_popmax=0.0017;AF_male=0.0001;AF_female=7.183e-05;AF_raw=8.82e-05;AF_afr=0;AF_sas=.;AF_amr=0.0017;AF_eas=0;AF_nfe=9.246e-05;AF_fin=0;AF_asj=0;AF_oth=0;non_topmed_AF_popmax=0.0017;non_neuro_AF_popmax=0.0024;non_cancer_AF_popmax=.;controls_AF_popmax=0.0057;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\x3d99.963721;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . 0/1:-44.3997,0,-91.5092:52:33:18:691:1234 . . . . . . . . . . . . . . . . . . +chrX 119576454 . C T 2816.72 . AB=0.567708;ABP=10.6557;AC=1;AF=0.5;AN=2;AO=109;CIGAR=1X;DP=192;DPB=192;DPRA=0;EPP=4.62396;EPPR=8.89682;GTI=0;LEN=1;MEANALT=1;MQM=41.6881;MQMR=41.506;NS=1;NUMALT=1;ODDS=453.256;PAIRED=0.981651;PAIREDR=0.987952;PAO=0;PQA=0;PQR=0;PRO=0;QA=4079;QR=3122;RO=83;RPL=34;RPP=36.4988;RPPR=51.3844;RPR=75;RUN=1;SAF=60;SAP=5.42083;SAR=49;SF=17;SRF=47;SRP=6.17594;SRR=36;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon7:c.G928A:p.V310I,LAMP2:NM_002294:exon7:c.G928A:p.V310I,LAMP2:NM_013995:exon7:c.G928A:p.V310I;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs104894858;CLNALLELEID=25021;CLNDN=Danon_disease|not_provided;CLNDISDB=MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN517202;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Pathogenic;SIFT_score=0.254;SIFT_converted_rankscore=0.295;SIFT_pred=T;Polyphen2_HDIV_score=0.025;Polyphen2_HDIV_rankscore=0.507;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.044;Polyphen2_HVAR_rankscore=0.398;Polyphen2_HVAR_pred=B;LRT_score=0.550;LRT_converted_rankscore=0.114;LRT_pred=N;MutationTaster_score=0.311;MutationTaster_converted_rankscore=0.302;MutationTaster_pred=A;MutationAssessor_score=2.56;MutationAssessor_score_rankscore=0.750;MutationAssessor_pred=M;FATHMM_score=1.37;FATHMM_converted_rankscore=0.342;FATHMM_pred=T;PROVEAN_score=-0.74;PROVEAN_converted_rankscore=0.208;PROVEAN_pred=N;VEST3_score=0.209;VEST3_rankscore=0.697;MetaSVM_score=-0.844;MetaSVM_rankscore=0.524;MetaSVM_pred=T;MetaLR_score=0.100;MetaLR_rankscore=0.373;MetaLR_pred=T;M-CAP_score=0.258;M-CAP_rankscore=0.894;M-CAP_pred=D;REVEL_score=0.192;REVEL_rankscore=0.476;MutPred_score=0.817;MutPred_rankscore=0.931;CADD_raw=5.030;CADD_raw_rankscore=0.677;CADD_phred=25.2;DANN_score=0.994;DANN_rankscore=0.631;fathmm-MKL_coding_score=0.979;fathmm-MKL_coding_rankscore=0.777;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=5.17;GERP++_RS_rankscore=0.707;phyloP100way_vertebrate=4.514;phyloP100way_vertebrate_rankscore=0.600;phyloP20way_mammalian=0.935;phyloP20way_mammalian_rankscore=0.490;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.921;phastCons20way_mammalian_rankscore=0.396;SiPhy_29way_logOdds=16.156;SiPhy_29way_logOdds_rankscore=0.814;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=0.9999;dbscSNV_RF_SCORE=0.99;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3dENSR00001163014|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.963479;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . 0/1:-292.828,0,-209.939:192:83:109:4079:3122 . . . . . . . . . . . . . . . . . . . +chrX 119576455 . G A 2497.87 . AB=0.495495;ABP=3.04943;AC=4;AF=0.5;AN=6;AO=110;CIGAR=1X;DP=503;DPB=222;DPRA=0;EPP=3.32615;EPPR=4.25114;GTI=0;LEN=1;MEANALT=1;MQM=41.4909;MQMR=41.8125;NS=1;NUMALT=1;ODDS=627.086;PAIRED=0.990909;PAIREDR=0.991071;PAO=0;PQA=0;PQR=0;PRO=0;QA=4119;QR=4117;RO=112;RPL=28;RPP=60.5741;RPPR=40.5458;RPR=82;RUN=1;SAF=69;SAP=18.487;SAR=41;SF=12,15,17;SRF=64;SRP=7.97367;SRR=48;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LAMP2;GeneDetail.refGene=.;ExonicFunc.refGene=synonymous_SNV;AAChange.refGene=LAMP2:NM_001122606:exon7:c.C927T:p.S309S,LAMP2:NM_002294:exon7:c.C927T:p.S309S,LAMP2:NM_013995:exon7:c.C927T:p.S309S;1000g2015aug_all=0.013245;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs73219144;CLNALLELEID=53612;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:C2711754|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=0.0005;dbscSNV_RF_SCORE=0.032;esp6500siv2_ea=0.0407;ExAC_nontcga_ALL=0.0258;ExAC_nontcga_AFR=0.0053;ExAC_nontcga_AMR=0.0130;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0393;ExAC_nontcga_NFE=0.0396;ExAC_nontcga_OTH=0.0277;ExAC_nontcga_SAS=0.0088;AF=0.0275;AF_popmax=0.0408;AF_male=0.0238;AF_female=0.0296;AF_raw=0.0276;AF_afr=0.0046;AF_sas=.;AF_amr=0.0179;AF_eas=0;AF_nfe=0.0408;AF_fin=0.0371;AF_asj=0.0341;AF_oth=0.0262;non_topmed_AF_popmax=0.0428;non_neuro_AF_popmax=0.0396;non_cancer_AF_popmax=.;controls_AF_popmax=0.0435;Kaviar_AF=0.0258923;Kaviar_AC=4003;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=Name\x3dENSR00001163014|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.963479;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . 0/1:-286.511,0,-290.157:222:112:110:4119:4117:112,110 . . 1/1:-287.48,-26.7917,0:89:0:89:3341:0 . 0/1:-209.849,0,-292.055:192:108:83:3118:4064 . . . . . . . . . . . . . . . . . . . +chrX 119590533 . T A 539.58 . AB=0.469388;ABP=3.40914;AC=30;AF=0.5;AN=36;AO=23;CIGAR=1X;DP=450;DPB=49;DPRA=0;EPP=30.2953;EPPR=36.4176;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=117.454;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=851;QR=915;RO=26;RPL=12;RPP=3.10471;RPPR=8.35546;RPR=11;RUN=1;SAF=11;SAP=3.10471;SAR=12;SF=0,1,4,6,7,11,12,13,15,16,17,20,21,22,23,32,34,36;SRF=12;SRP=3.34437;SRR=14;TYPE=snp;ANNOVAR_DATE=2018-04-16;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;1000g2015aug_all=0.380927;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs12097;CLNALLELEID=53583;CLNDN=Hypertrophic_cardiomyopathy|Danon_disease|History_of_neurodevelopmental_disorder|not_specified|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:C2711754|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=0.4261;ExAC_nontcga_ALL=0.4275;ExAC_nontcga_AFR=0.3731;ExAC_nontcga_AMR=0.3279;ExAC_nontcga_EAS=0.4167;ExAC_nontcga_FIN=0.4945;ExAC_nontcga_NFE=0.4555;ExAC_nontcga_OTH=0.4160;ExAC_nontcga_SAS=0.4480;AF=0.4040;AF_popmax=0.4222;AF_male=0.4051;AF_female=0.4034;AF_raw=0.4049;AF_afr=0.3552;AF_sas=.;AF_amr=0.3316;AF_eas=0.3731;AF_nfe=0.4222;AF_fin=0.4613;AF_asj=0.4457;AF_oth=0.4229;non_topmed_AF_popmax=0.4268;non_neuro_AF_popmax=0.4212;non_cancer_AF_popmax=.;controls_AF_popmax=0.4292;Kaviar_AF=0.373727;Kaviar_AC=57779;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.945252;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-59.2549,0,-65.0555:49:26:23:851:915:26,23 1/1:-36.3009,-3.31133,0:11:0:11:416:0 . . 0/1:-44.8522,0,-56.961:38:21:17:647:785 . 0/1:-31.5351,0,-32.8174:26:13:13:451:464:13,13 1/1:-62.33,-5.71957,0:19:0:19:716:0 . . . 1/1:-102.741,-9.63296,0:32:0:32:1182:0 0/1:-48.9877,0,-70.5455:50:29:20:734:977:29,20 1/1:-96.6945,-9.0309,0:30:0:30:1113:0 . 1/1:-63.8037,-6.0206,0:20:0:20:731:0 1/1:-59.3893,-5.41854,0:18:0:18:683:0:0,18 1/1:-112.339,-10.5361,0:35:0:35:1296:0 . . 1/1:-46.5864,-4.51545,0:15:0:15:533:0:0,15 0/1:-49.3876,0,-3.91688:20:3:17:634:110:3,17 1/1:-68.6177,-6.32163,0:21:0:21:787:0 0/1:-24.9385,0,-10.7644:14:5:9:332:169 . . . . . . . . 1/1:-43.0065,-3.91339,0:13:0:13:494:0 . 1/1:-76.8143,-7.22472,0:24:0:24:883:0 . 1/1:-49.7672,-4.51545,0:15:0:15:572:0 +chrX 135279350 . C A 17.32 . AB=0.25;ABP=9.52472;AC=1;AF=0.5;AN=2;AO=3;CIGAR=1X;DP=12;DPB=12;DPRA=0;EPP=9.52472;EPPR=3.25157;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=3.97014;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=116;QR=332;RO=9;RPL=2;RPP=3.73412;RPPR=9.04217;RPR=1;RUN=1;SAF=2;SAP=3.73412;SAR=1;SF=34;SRF=2;SRP=9.04217;SRR=7;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL1;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=Name\x3dENSR00000915895|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d98.525718;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-6.74918,0,-25.6083:12:9:3:116:332 . . +chrX 135292022 . C T 1684.55 . AB=0.513514;ABP=3.18637;AC=27;AF=0.5;AN=34;AO=57;CIGAR=1X;DP=1498;DPB=111;DPRA=0;EPP=23.1631;EPPR=10.8919;GTI=0;LEN=1;MEANALT=1;MQM=41.5614;MQMR=42;NS=1;NUMALT=1;ODDS=290.859;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=2003;QR=1917;RO=54;RPL=22;RPP=9.44853;RPPR=3.0103;RPR=35;RUN=1;SAF=25;SAP=4.877;SAR=32;SF=0,2,3,4,5,6,10,11,16,17,18,19,23,27,30,35,36;SRF=29;SRP=3.6537;SRR=25;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=FHL1;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.519735;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs2076705;CLNALLELEID=195627;CLNDN=Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified;CLNDISDB=MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374;CLNREVSTAT=criteria_provided,_multiple_submitters,_no_conflicts;CLNSIG=Benign;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;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=0.072;esp6500siv2_ea=0.4397;ExAC_nontcga_ALL=0.4940;ExAC_nontcga_AFR=0.3554;ExAC_nontcga_AMR=0.5154;ExAC_nontcga_EAS=0.6466;ExAC_nontcga_FIN=0.5988;ExAC_nontcga_NFE=0.4964;ExAC_nontcga_OTH=0.4575;ExAC_nontcga_SAS=0.4379;AF=0.5350;AF_popmax=0.6959;AF_male=0.5178;AF_female=0.5432;AF_raw=0.5318;AF_afr=0.3778;AF_sas=.;AF_amr=0.5162;AF_eas=0.6959;AF_nfe=0.5795;AF_fin=0.6419;AF_asj=0.4940;AF_oth=0.5789;non_topmed_AF_popmax=0.6952;non_neuro_AF_popmax=0.6959;non_cancer_AF_popmax=.;controls_AF_popmax=0.7218;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\x3d99.138818;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-141.408,0,-133.202:111:54:57:2003:1917:54,57 . 1/1:-165.399,-17.7608,0:59:0:59:1926:0 1/1:-134.342,-10.1929,0:46:1:45:1589:38:1,45 0/1:-162.094,0,-161.606:127:63:64:2298:2299 0/1:-190.615,0,-153.083:140:64:76:2684:2243:64,76 0/1:-107.843,0,-135.198:103:57:46:1609:2050:57,46 . . . 1/1:-323.212,-28.4866,0:107:1:106:3779:39:1,106 1/1:-319.899,-32.5112,0:109:0:108:3677:0 . . . . 1/1:-174.612,-17.7608,0:59:0:59:1996:0:0,59 0/1:-124.184,0,-216.09:138:83:55:1996:2968 0/1:-104.507,0,-59.8789:66:25:41:1437:912 1/1:-142.788,-14.7505,0:50:0:49:1660:0 . . . 0/1:-167.288,0,-175.366:137:69:67:2401:2525 . . . 1/1:-265.011,-23.5155,0:95:2:92:3093:54:2,92 . . 1/1:-146.968,-14.4494,0:49:0:48:1685:0 . . . . 1/1:-121.81,-12.3422,0:42:0:41:1394:0 1/1:-188.554,-18.0618,0:60:0:60:2168:0 +chrX 153640406 . C T 1118.81 . AB=0.402062;ABP=11.0918;AC=22;AF=0.5;AN=26;AO=39;CIGAR=1X;DP=709;DPB=97;DPRA=0;EPP=3.51141;EPPR=4.35811;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=41.931;NS=1;NUMALT=1;ODDS=192.803;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1434;QR=2032;RO=58;RPL=6;RPP=43.6001;RPPR=62.913;RPR=33;RUN=1;SAF=25;SAP=9.74743;SAR=14;SF=5,8,9,14,17,21,22,23,26,27,32,33,35;SRF=35;SRP=8.40154;SRR=23;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=UTR5;Gene.refGene=DNASE1L1;GeneDetail.refGene=NM_001009932:c.-6497G>A\x3bNM_001009934:c.-6497G>A\x3bNM_001009933:c.-6497G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.0649007;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs62617809;CLNALLELEID=45455;CLNDN=3-Methylglutaconic_aciduria_type_2|not_specified;CLNDISDB=MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|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=0.2477;ExAC_nontcga_ALL=0.1952;ExAC_nontcga_AFR=0.0351;ExAC_nontcga_AMR=0.0730;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.3642;ExAC_nontcga_NFE=0.3145;ExAC_nontcga_OTH=0.1909;ExAC_nontcga_SAS=0.0524;AF=0.1792;AF_popmax=0.2532;AF_male=0.1609;AF_female=0.1891;AF_raw=0.1820;AF_afr=0.0360;AF_sas=.;AF_amr=0.0824;AF_eas=0;AF_nfe=0.2532;AF_fin=0.2711;AF_asj=0.3;AF_oth=0.2370;non_topmed_AF_popmax=0.2560;non_neuro_AF_popmax=0.2510;non_cancer_AF_popmax=.;controls_AF_popmax=0.2518;Kaviar_AF=0.155768;Kaviar_AC=24082;Kaviar_AN=154602;Heart_Atrial_Appendage=Heart_Atrial_Appendage::0.224806::-0.273709;Heart_Left_Ventricle=Heart_Left_Ventricle::0.226592::-0.256164;ENSEMBLReg=Name\x3dENSR00000344175|Promoter;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=Name\x3dOREG0003602|POSITIVEOUTCOME|N/A|StanfordENCODEDataset;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1183489|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=.;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-95.3643,0,-147.402:97:58:39:1434:2032:58,39 . . 1/1:-110.187,-10.5361,0:36:0:35:1274:0 0/1:-153.073,0,-100.988:102:43:59:2142:1510:43,59 . . . . 1/1:-94.0616,-9.0309,0:30:0:30:1082:0 . . 0/1:-120.358,0,-100.514:90:41:49:1697:1464 . . . 0/1:-59.7597,0,-42.5166:41:17:24:829:628:17,24 1/1:-46.3312,-4.81648,0:16:0:16:528:0 1/1:-401.5,-37.0267,0:123:0:123:4646:0 . . 1/1:-99.3379,-10.235,0:34:0:34:1167:0 1/1:-154.482,-14.4494,0:48:0:48:1781:0:0,48 . . . . 1/1:-102.4,-9.93399,0:33:0:33:1208:0 1/1:-147.645,-13.5464,0:45:0:45:1703:0 . 1/1:-42.9571,-4.21442,0:14:0:14:491:0 . +chrX 153641619 . C T 4277.27 . AB=0.471074;ABP=5.64837;AC=3;AF=0.5;AN=6;AO=171;CIGAR=1X;DP=1120;DPB=363;DPRA=0;EPP=8.61041;EPPR=5.9056;GTI=0;LEN=1;MEANALT=1;MQM=41.7427;MQMR=41.4948;NS=1;NUMALT=1;ODDS=874.872;PAIRED=0.988304;PAIREDR=0.96875;PAO=0;PQA=0;PQR=0;PRO=0;QA=5852;QR=6603;RO=192;RPL=134;RPP=122.492;RPPR=111.629;RPR=37;RUN=1;SAF=71;SAP=13.6899;SAR=100;SF=0,5,18;SRF=77;SRP=19.3416;SRR=115;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TAZ;GeneDetail.refGene=.;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=0.00450331;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs41313420;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=.;LRT_converted_rankscore=.;LRT_pred=.;MutationTaster_score=.;MutationTaster_converted_rankscore=.;MutationTaster_pred=.;MutationAssessor_score=.;MutationAssessor_score_rankscore=.;MutationAssessor_pred=.;FATHMM_score=.;FATHMM_converted_rankscore=.;FATHMM_pred=.;PROVEAN_score=.;PROVEAN_converted_rankscore=.;PROVEAN_pred=.;VEST3_score=.;VEST3_rankscore=.;MetaSVM_score=.;MetaSVM_rankscore=.;MetaSVM_pred=.;MetaLR_score=.;MetaLR_rankscore=.;MetaLR_pred=.;M-CAP_score=.;M-CAP_rankscore=.;M-CAP_pred=.;REVEL_score=.;REVEL_rankscore=.;MutPred_score=.;MutPred_rankscore=.;CADD_raw=.;CADD_raw_rankscore=.;CADD_phred=.;DANN_score=.;DANN_rankscore=.;fathmm-MKL_coding_score=.;fathmm-MKL_coding_rankscore=.;fathmm-MKL_coding_pred=.;Eigen_coding_or_noncoding=.;Eigen-raw=.;Eigen-PC-raw=.;GenoCanyon_score=.;GenoCanyon_score_rankscore=.;integrated_fitCons_score=.;integrated_fitCons_score_rankscore=.;integrated_confidence_value=.;GERP++_RS=.;GERP++_RS_rankscore=.;phyloP100way_vertebrate=.;phyloP100way_vertebrate_rankscore=.;phyloP20way_mammalian=.;phyloP20way_mammalian_rankscore=.;phastCons100way_vertebrate=.;phastCons100way_vertebrate_rankscore=.;phastCons20way_mammalian=.;phastCons20way_mammalian_rankscore=.;SiPhy_29way_logOdds=.;SiPhy_29way_logOdds_rankscore=.;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=0.0089;ExAC_nontcga_ALL=0.0058;ExAC_nontcga_AFR=0.0010;ExAC_nontcga_AMR=0.0032;ExAC_nontcga_EAS=0;ExAC_nontcga_FIN=0.0012;ExAC_nontcga_NFE=0.0102;ExAC_nontcga_OTH=0.0054;ExAC_nontcga_SAS=0.0009;AF=0.0039;AF_popmax=0.0113;AF_male=0.0041;AF_female=0.0037;AF_raw=0.0038;AF_afr=0.0012;AF_sas=.;AF_amr=0.0113;AF_eas=0;AF_nfe=0.0058;AF_fin=0.0008;AF_asj=0.0057;AF_oth=0.0063;non_topmed_AF_popmax=0.0067;non_neuro_AF_popmax=0.0165;non_cancer_AF_popmax=.;controls_AF_popmax=0.0110;Kaviar_AF=0.0050517;Kaviar_AC=781;Kaviar_AN=154602;Heart_Atrial_Appendage=.;Heart_Left_Ventricle=.;ENSEMBLReg=.;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.084202;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-401.469,0,-464.854:363:192:171:5852:6603:192,171 . . . . 0/1:-656.831,0,-586.811:521:246:274:9319:8577:246,274 . . . . . . . . . . . . 0/1:-288.432,0,-260.522:236:114:121:4105:3806 . . . . . . . . . . . . . . . . . . +chrX 153648032 . C T 8838.26 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=285;CIGAR=1X;DP=287;DPB=287;DPRA=0;EPP=3.93222;EPPR=0;GTI=0;LEN=1;MEANALT=2;MQM=41.4912;MQMR=0;NS=1;NUMALT=1;ODDS=399.699;PAIRED=0.996491;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=10369;QR=0;RO=0;RPL=113;RPP=29.5327;RPPR=0;RPR=172;RUN=1;SAF=130;SAP=7.7723;SAR=155;SF=26;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TAZ;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=0.0001;dbscSNV_RF_SCORE=0.012;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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=Name\x3dOREG1183487|N/A|TFAP2C|PAZAR;ORegmiRNA=.;nCER95=Name\x3d98.273060;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-891.032,-85.7936,0:287:0:285:10369:0 . . . . . . . . . . +chrX 153648156 . C T 5688.38 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=189;CIGAR=1X;DP=192;DPB=192;DPRA=0;EPP=3.02179;EPPR=0;GTI=0;LEN=1;MEANALT=3;MQM=41.7407;MQMR=0;NS=1;NUMALT=1;ODDS=266.615;PAIRED=0.994709;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=6648;QR=0;RO=0;RPL=119;RPP=30.596;RPPR=0;RPR=70;RUN=1;SAF=74;SAP=22.3238;SAR=115;SF=11;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=intronic;Gene.refGene=TAZ;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=Name\x3dOREG1183487|N/A|TFAP2C|PAZAR,OREG1648615|N/A|FOXA1|PAZAR;ORegmiRNA=.;nCER95=Name\x3d95.945813;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . 1/1:-577.262,-56.8947,0:192:0:189:6648:0 . . . . . . . . . . . . . . . . . . . . . . . . . +chr3 12626632 . T G 2121 . AB=0.544118;ABP=4.1599;AC=3;AF=0.5;AN=6;AO=37;CIGAR=1X;DP=269;DPB=68;DPRA=0;EPP=12.9286;EPPR=3.64073;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=162.215;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=1312;QR=1142;RO=31;RPL=33;RPP=52.3673;RPPR=14.8483;RPR=4;RUN=1;SAF=8;SAP=28.8919;SAR=29;SF=0,12,16;SRF=8;SRP=18.771;SRR=23;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=RAF1;GeneDetail.refGene=.;ExonicFunc.refGene=nonsynonymous_SNV;AAChange.refGene=RAF1:NM_002880:exon15:c.A1657C:p.N553H;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs745876012;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=0.018;SIFT_converted_rankscore=0.506;SIFT_pred=D;Polyphen2_HDIV_score=0.181;Polyphen2_HDIV_rankscore=0.585;Polyphen2_HDIV_pred=B;Polyphen2_HVAR_score=0.201;Polyphen2_HVAR_rankscore=0.647;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=0.925;MutationAssessor_score_rankscore=0.236;MutationAssessor_pred=L;FATHMM_score=-1.64;FATHMM_converted_rankscore=0.825;FATHMM_pred=D;PROVEAN_score=-3.44;PROVEAN_converted_rankscore=0.677;PROVEAN_pred=D;VEST3_score=0.28;VEST3_rankscore=0.370;MetaSVM_score=-0.040;MetaSVM_rankscore=0.814;MetaSVM_pred=T;MetaLR_score=0.491;MetaLR_rankscore=0.807;MetaLR_pred=T;M-CAP_score=0.165;M-CAP_rankscore=0.845;M-CAP_pred=D;REVEL_score=0.466;REVEL_rankscore=0.764;MutPred_score=0.575;MutPred_rankscore=0.700;CADD_raw=3.634;CADD_raw_rankscore=0.494;CADD_phred=23.2;DANN_score=0.996;DANN_rankscore=0.768;fathmm-MKL_coding_score=0.992;fathmm-MKL_coding_rankscore=0.927;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.101;Eigen-PC-raw=0.224;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=4.39;GERP++_RS_rankscore=0.520;phyloP100way_vertebrate=5.937;phyloP100way_vertebrate_rankscore=0.697;phyloP20way_mammalian=1.061;phyloP20way_mammalian_rankscore=0.807;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.992;phastCons20way_mammalian_rankscore=0.562;SiPhy_29way_logOdds=8.597;SiPhy_29way_logOdds_rankscore=0.327;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=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=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\x3d99.787644;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-94.0646,0,-78.949:68:31:37:1312:1142:31,37 . . . . . . . . . . . 0/1:-190.765,0,-93.4044:110:40:70:2579:1456:40,70 . . . 0/1:-155.151,0,-82.6494:91:34:57:2102:1269:34,57 . . . . . . . . . . . . . . . . . . . . +chr12 32974391 . CA C 4511 . AB=0;ABP=0;AC=4;AF=1;AN=6;AO=105;CIGAR=1X;DP=346;DPB=105;DPRA=0;EPP=65.5694;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.4667;MQMR=0;NS=1;NUMALT=1;ODDS=150.166;PAIRED=0.971429;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=3883;QR=0;RO=0;RPL=52;RPP=3.03098;RPPR=0;RPR=53;RUN=1;SAF=57;SAP=4.68544;SAR=48;SF=0,5,10;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PKP2:NM_001005242:exon9:c.1911delT:p.I637fs,PKP2:NM_004572:exon10:c.2043delT:p.I681fs;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\x3d99.935709;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-334.829,-31.6082,0:105:0:105:3883:0:0,105 . . . . 0/1:-145.191,0,-214.105:136:79:57:2163:2957:79,57 . . . . 0/1:-155.002,0,-123.439:105:48:57:2154:1795:48,57 . . . . . . . . . . . . . . . . . . . . . . . . . . +chr7 91726576 . C T 3246.67 . AB=0.471074;ABP=5.64837;AC=3;AF=0.5;AN=6;AO=171;CIGAR=1X;DP=1120;DPB=363;DPRA=0;EPP=8.61041;EPPR=5.9056;GTI=0;LEN=1;MEANALT=1;MQM=41.7427;MQMR=41.4948;NS=1;NUMALT=1;ODDS=874.872;PAIRED=0.988304;PAIREDR=0.96875;PAO=0;PQA=0;PQR=0;PRO=0;QA=5852;QR=6603;RO=192;RPL=134;RPP=122.492;RPPR=111.629;RPR=37;RUN=1;SAF=71;SAP=13.6899;SAR=100;SF=0,5,18;SRF=77;SRP=19.3416;SRR=115;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=AKAP9:NM_005751:exon41:c.C10303T:p.R3435X,AKAP9:NM_147185:exon41:c.C10279T:p.R3427X;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=0.005;LRT_converted_rankscore=0.333;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=11.961;CADD_raw_rankscore=0.979;CADD_phred=38;DANN_score=0.985;DANN_rankscore=0.422;fathmm-MKL_coding_score=0.726;fathmm-MKL_coding_rankscore=0.353;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.267;Eigen-PC-raw=0.119;GenoCanyon_score=0.000;GenoCanyon_score_rankscore=0.068;integrated_fitCons_score=0.732;integrated_fitCons_score_rankscore=0.924;integrated_confidence_value=0;GERP++_RS=3.66;GERP++_RS_rankscore=0.409;phyloP100way_vertebrate=1.238;phyloP100way_vertebrate_rankscore=0.321;phyloP20way_mammalian=0.072;phyloP20way_mammalian_rankscore=0.180;phastCons100way_vertebrate=0.999;phastCons100way_vertebrate_rankscore=0.424;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=17.508;SiPhy_29way_logOdds_rankscore=0.876;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d98.978044;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 0/1:-401.469,0,-464.854:363:192:171:5852:6603:192,171 . . . . 0/1:-656.831,0,-586.811:521:246:274:9319:8577:246,274 . . . . . . . . . . . . 0/1:-288.432,0,-260.522:236:114:121:4105:3806 . . . . . . . . . . . . . . . . . . +chr7 91737871 . C G 541 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=27;CIGAR=1X;DP=27;DPB=27;DPRA=0;EPP=3.09072;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=42.0351;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1034;QR=0;RO=0;RPL=16;RPP=5.02092;RPPR=0;RPR=11;RUN=1;SAF=10;SAP=6.95112;SAR=17;SF=19;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=AKAP9;GeneDetail.refGene=.;ExonicFunc.refGene=stopgain;AAChange.refGene=AKAP9:NM_005751:exon49:c.C11610G:p.Y3870X,AKAP9:NM_147185:exon49:c.C11586G:p.Y3862X;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs757753258;CLNALLELEID=.;CLNDN=.;CLNDISDB=.;CLNREVSTAT=.;CLNSIG=.;SIFT_score=.;SIFT_converted_rankscore=.;SIFT_pred=.;Polyphen2_HDIV_score=.;Polyphen2_HDIV_rankscore=.;Polyphen2_HDIV_pred=.;Polyphen2_HVAR_score=.;Polyphen2_HVAR_rankscore=.;Polyphen2_HVAR_pred=.;LRT_score=0.004;LRT_converted_rankscore=0.340;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=12.107;CADD_raw_rankscore=0.980;CADD_phred=38;DANN_score=0.972;DANN_rankscore=0.322;fathmm-MKL_coding_score=0.794;fathmm-MKL_coding_rankscore=0.391;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=0.032;Eigen-PC-raw=-0.219;GenoCanyon_score=0.078;GenoCanyon_score_rankscore=0.158;integrated_fitCons_score=0.707;integrated_fitCons_score_rankscore=0.730;integrated_confidence_value=0;GERP++_RS=-5.71;GERP++_RS_rankscore=0.022;phyloP100way_vertebrate=-0.091;phyloP100way_vertebrate_rankscore=0.110;phyloP20way_mammalian=-0.727;phyloP20way_mammalian_rankscore=0.036;phastCons100way_vertebrate=0.950;phastCons100way_vertebrate_rankscore=0.328;phastCons20way_mammalian=0.976;phastCons20way_mammalian_rankscore=0.476;SiPhy_29way_logOdds=15.686;SiPhy_29way_logOdds_rankscore=0.771;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=.;dbscSNV_RF_SCORE=.;esp6500siv2_ea=.;ExAC_nontcga_ALL=.;ExAC_nontcga_AFR=.;ExAC_nontcga_AMR=.;ExAC_nontcga_EAS=.;ExAC_nontcga_FIN=.;ExAC_nontcga_NFE=.;ExAC_nontcga_OTH=.;ExAC_nontcga_SAS=.;AF=.;AF_popmax=.;AF_male=.;AF_female=.;AF_raw=.;AF_afr=.;AF_sas=.;AF_amr=.;AF_eas=.;AF_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\x3d99.472339;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . 1/1:-89.5634,-8.12781,0:27:0:27:1034:0 . . . . . . . . . . . . . . . . . +chr6 7569521 . G GG 345 . AB=0.535714;ABP=3.32051;AC=1;AF=0.5;AN=2;AO=15;CIGAR=1X;DP=28;DPB=28;DPRA=0;EPP=3.15506;EPPR=4.51363;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=67.9895;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=563;QR=500;RO=13;RPL=11;RPP=10.1038;RPPR=16.5402;RPR=4;RUN=1;SAF=4;SAP=10.1038;SAR=11;SF=24;SRF=5;SRP=4.51363;SRR=8;TYPE=dup;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=DSP;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=DSP:NM_001008844:exon12:c.1522dupG:p.V508fs,DSP:NM_001319034:exon12:c.1522dupG:p.V508fs,DSP:NM_004415:exon12:c.1522dupG:p.V508fs;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=Name\x3dENSR00001106696|TF_binding_site;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=Name\x3dOREG0070928|N/A|N/A|VistaEnhancers;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.906081;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . . . . . . . . . . . . . . . . . . . 0/1:-40.6717,0,-35.0576:28:13:15:563:500:13,15 . . . . . . . . . . . . +chr1 156100468 . TCTGCTGAAC TCTGCTGAACTCTGCTGAAC 768 . AB=0;ABP=0;AC=7;AF=1;AN=10;AO=40;CIGAR=1X;DP=501;DPB=40;DPRA=0;EPP=39.7082;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=41.525;MQMR=0;NS=1;NUMALT=1;ODDS=60.0569;PAIRED=0;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1518;QR=0;RO=0;RPL=24;RPP=6.48466;RPPR=0;RPR=16;RUN=1;SAF=19;SAP=3.22745;SAR=21;SF=1,2,6,9,21;SRF=0;SRP=0;SRR=0;TYPE=dup;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=LMNA;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_insertion;AAChange.refGene=LMNA:NM_001257374:exon2:c.90_91insTCTGCTGAAC:p.N30fs,LMNA:NM_001282626:exon2:c.426_427insTCTGCTGAAC:p.N142fs,LMNA:NM_005572:exon2:c.426_427insTCTGCTGAAC:p.N142fs,LMNA:NM_170707:exon2:c.426_427insTCTGCTGAAC:p.N142fs,LMNA:NM_170708:exon2:c.426_427insTCTGCTGAAC:p.N142fs,LMNA:NM_001282624:exon3:c.183_184insTCTGCTGAAC:p.N61fs,LMNA:NM_001282625:exon5:c.426_427insTCTGCTGAAC:p.N142fs;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=Name\x3dMIMAT0000438|hsa-miR-152-3p|Experimental,MIMAT0000243|hsa-miR-148a-3p|Experimental;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=Name\x3dOREG1177780|N/A|TFAP2C|PAZAR,OREG1259371|N/A|SMARCA4|PAZAR,OREG1801508|N/A|RBL2|PAZAR;ORegmiRNA=.;nCER95=Name\x3d99.695522;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . . 0/1:-175.528,0,-154.521:126:60:66:2465:2223:60,66 . . . . . . . . . . . . . . 0/1:-64.6482,0,-139.169:79:51:28:1019:1895:51,28 . . . . . . . . . . . . . . . +chr11 47369407 . C T 501 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=35;CIGAR=1X;DP=35;DPB=35;DPRA=0;EPP=4.56135;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=53.1255;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1280;QR=0;RO=0;RPL=23;RPP=10.5174;RPPR=0;RPR=12;RUN=1;SAF=18;SAP=3.07234;SAR=17;SF=33;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=splicing;Gene.refGene=MYBPC3;GeneDetail.refGene=NM_000256:exon7:c.821+1G>A;ExonicFunc.refGene=.;AAChange.refGene=.;1000g2015aug_all=.;GWAS=.;ORegAnno_REGULATORY_P=.;avsnp150=rs397516073;CLNALLELEID=51961;CLNDN=Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided;CLNDISDB=Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|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=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=5.088;CADD_raw_rankscore=0.686;CADD_phred=25.3;DANN_score=0.991;DANN_rankscore=0.516;fathmm-MKL_coding_score=0.988;fathmm-MKL_coding_rankscore=0.865;fathmm-MKL_coding_pred=D;Eigen_coding_or_noncoding=c;Eigen-raw=1.023;Eigen-PC-raw=0.850;GenoCanyon_score=1.000;GenoCanyon_score_rankscore=0.747;integrated_fitCons_score=0.057;integrated_fitCons_score_rankscore=0.007;integrated_confidence_value=0;GERP++_RS=5.55;GERP++_RS_rankscore=0.832;phyloP100way_vertebrate=6.188;phyloP100way_vertebrate_rankscore=0.718;phyloP20way_mammalian=0.892;phyloP20way_mammalian_rankscore=0.403;phastCons100way_vertebrate=1.000;phastCons100way_vertebrate_rankscore=0.715;phastCons20way_mammalian=0.995;phastCons20way_mammalian_rankscore=0.604;SiPhy_29way_logOdds=17.681;SiPhy_29way_logOdds_rankscore=0.881;Interpro_domain=.;GTEx_V6p_gene=.;GTEx_V6p_tissue=.;dbscSNV_ADA_SCORE=1.0000;dbscSNV_RF_SCORE=0.926;esp6500siv2_ea=.;ExAC_nontcga_ALL=5.525e-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=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\x3d99.839192;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-111.22,-10.5361,0:35:0:35:1280:0 . . . +chr1 78401653 . AAAT A 4511 . AB=0.578723;ABP=15.6603;AC=14;AF=0.5;AN=18;AO=136;CIGAR=1X;DP=1337;DPB=235;DPRA=0;EPP=5.30951;EPPR=7.94546;GTI=0;LEN=1;MEANALT=1;MQM=41.9853;MQMR=41.8182;NS=1;NUMALT=1;ODDS=541.717;PAIRED=0.992647;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=4964;QR=3634;RO=99;RPL=67;RPP=3.07417;RPPR=3.03223;RPR=69;RUN=1;SAF=65;SAP=3.5851;SAR=71;SF=5,8,10,12,17,21,31,34,35;SRF=44;SRP=5.66432;SRR=55;TYPE=del;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=NEXN;GeneDetail.refGene=.;ExonicFunc.refGene=nonframeshift_deletion;AAChange.refGene=NEXN:NM_001172309:exon10:c.1206_1208del:p.402_403del,NEXN:NM_144573:exon11:c.1398_1400del:p.466_467del;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\x3d99.769611;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD . . . . . 0/1:-359.476,0,-243.86:235:99:136:4964:3634:99,136 . . 1/1:-185.165,-17.7608,0:59:0:59:2144:0 . 1/1:-610.653,-56.8947,0:189:0:189:7057:0:0,189 . 0/1:-372.111,0,-309.022:261:121:140:5204:4473:121,140 . . . . 0/1:-365.814,0,-293.291:256:118:138:5118:4296 . . . 0/1:-58.6749,0,-214.305:107:78:29:1046:2839:78,29 . . . . . . . . . 1/1:-283.917,-27.3937,0:91:0:91:3272:0 . . 1/1:-247.785,-22.8783,0:76:0:76:2860:0 1/1:-202.084,-18.9649,0:63:0:63:2325:0 . +chr12 33030841 . CCGCCTGGCCGA C 601 . AB=0;ABP=0;AC=2;AF=1;AN=2;AO=35;CIGAR=1X;DP=35;DPB=35;DPRA=0;EPP=4.56135;EPPR=0;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=0;NS=1;NUMALT=1;ODDS=53.1255;PAIRED=1;PAIREDR=0;PAO=0;PQA=0;PQR=0;PRO=0;QA=1280;QR=0;RO=0;RPL=23;RPP=10.5174;RPPR=0;RPR=12;RUN=1;SAF=18;SAP=3.07234;SAR=17;SF=33;SRF=0;SRP=0;SRR=0;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=PKP2;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=PKP2:NM_001005242:exon3:c.962_972del:p.V321fs,PKP2:NM_004572:exon3:c.962_972del:p.V321fs;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=Name\x3dENSR00000454924|Enhancer;ENSTFBS=.;ENSmiRNA=.;ORegAnno_REGULATORY_R=.;ORegAnno_REGULATORY_TFBS=.;ORegmiRNA=.;nCER95=Name\x3d99.816580,99.908730;ALLELE_END GT:GL:DP:RO:AO:QA:QR . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1/1:-111.22,-10.5361,0:35:0:35:1280:0 . . . +chr2 179434234 . AC A 114 . AB=0;ABP=0;AC=4;AF=1;AN=6;AO=192;CIGAR=1X;DP=645;DPB=196;DPRA=0;EPP=6.67466;EPPR=5.18177;GTI=0;LEN=1;MEANALT=1;MQM=42;MQMR=42;NS=1;NUMALT=1;ODDS=230.74;PAIRED=1;PAIREDR=1;PAO=0;PQA=0;PQR=0;PRO=0;QA=7300;QR=154;RO=4;RPL=116;RPP=21.1059;RPPR=5.18177;RPR=76;RUN=1;SAF=73;SAP=26.9417;SAR=119;SF=0,5,10;SRF=2;SRP=3.0103;SRR=2;TYPE=snp;ANNOVAR_DATE=2018-04-16;Func.refGene=exonic;Gene.refGene=TTN;GeneDetail.refGene=.;ExonicFunc.refGene=frameshift_deletion;AAChange.refGene=TTN:NM_003319:exon154:c.49429delG:p.V16477fs,TTN:NM_133432:exon155:c.49804delG:p.V16602fs,TTN:NM_133437:exon155:c.50005delG:p.V16669fs,TTN:NM_133378:exon275:c.68920delG:p.V22974fs,TTN:NM_001256850:exon276:c.71701delG:p.V23901fs,TTN:NM_001267550:exon326:c.76624delG:p.V25542fs;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\x3d97.526353;ALLELE_END GT:GL:DP:RO:AO:QA:QR:AD 1/1:-616.097,-45.3525,0:196:4:192:7300:154:4,192 . . . . 0/1:-369.93,0,-330.107:263:127:136:5204:4725:127,136 . . . . 0/1:-218.907,0,-273.771:186:100:84:3179:3808:100,84 . . . . . . . . . . . . . . . . . . . . . . . . . .