Mercurial > repos > elixir-it > vinyl_boxplot
changeset 0:1e6d7de8bbad draft
Uploaded
| author | elixir-it |
|---|---|
| date | Tue, 09 Jun 2020 15:57:22 +0000 |
| parents | |
| children | a68a11ce2abd |
| files | GeneP_pdf.R boxplot.xml test-data/R.csv test-data/T.csv |
| diffstat | 4 files changed, 5099 insertions(+), 0 deletions(-) [+] |
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--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/GeneP_pdf.R Tue Jun 09 15:57:22 2020 +0000 @@ -0,0 +1,52 @@ +args <- commandArgs(trailingOnly = TRUE) +fileR=args[1] +fileT=args[2] +signCoff=args[3] +oname=args[4] +data_R=read.table(fileR,header=T) +data_T=read.table(fileT,header=T) + + + +n=0; +m=min(data_R$VINYL_score) +M=max(data_R$VINYL_score) +Genes=levels(data_R$gene) +GeneP=c() +for (gene in Genes) +{ + F=1 + if (length(data_T[data_T$gene==gene,"VINYL_score"])>=5 && length(data_R[data_R$gene==gene,"VINYL_score"])>=5) + { + F=round(wilcox.test(data_R[data_R$gene==gene,"VINYL_score"],data_T[data_T$gene==gene,"VINYL_score"],alternative="gr")$p.value,3) + } + n=n+1 + GeneP[n]=F +} + +Genes=Genes[order(GeneP)] +GeneP=GeneP[order(GeneP)] +n=0 +file=paste(oname) +pdf(file)#,width=1600,height=1600); +par(mfrow=c(3,3),mar=c(3,3,3,2)) + + +for (gene in Genes) +{ + + n=n+1 + F=GeneP[n] + boxplot(data_T[data_T$gene==gene,"VINYL_score"],data_R[data_R$gene==gene,"VINYL_score"],col=c("purple","orange"),main=paste(gene,"p-value=" ,F,sep=" "),names=c("Cont","Aff"),ylim=c(m,M)) + abline(a=signCoff,b=0,lwd=2,col="red",lty=3) + abline(a=0,b=0,lwd=2,col="blue",lty=3) + #if (n %% 16==0) + #{ + # dev.off(); + # file=paste(oname,n,"png",sep=".") + # png(file,width=1600,height=1600,res=160); + # par(mfrow=c(4,4),mar=c(2,2,2,1.5)) + #} +} + +dev.off();
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/boxplot.xml Tue Jun 09 15:57:22 2020 +0000 @@ -0,0 +1,56 @@ +<tool id="boxplot" name="boxplot" version="1"> + <description> Boxplots are used to compare VINYL score distribution for single genes. Useful for the identification of genes that accumulate "pathogenic" mutations</description> + <requirements> + <requirement type="package" >r-base</requirement> + </requirements> + <command> <![CDATA[ + Rscript --vanilla $__tool_directory__/GeneP_pdf.R + + ####INPUT + $fileR $fileC $cutoff + + ###OUTPUT + $ofile + + ]]> + </command> + <inputs> + <param format="tabular,csv" name="fileR" type="data" label="affected" help="VINYL Tabular output format file. Affected individuals "/> + <param format="tabular,csv" name="fileC" type="data" label="healthy" help="VINYL Tabular output format file. Unaffected individuals"/> + <param name="cutoff" value="8" min="1" type="float" label="score_cutoff" help="Cut-Off score used for the identification of potentially pathogenic variants"/> + + </inputs> + <outputs> + <data format="pdf" name="ofile" label="${tool.name} on ${on_string}: pdf "/> + </outputs> + <stdio> + <regex match="error" + source="stdout" + level="fatal" + description="Unknown error encountered" /> + </stdio> + <tests> + <test> + <param name="fileR" value="R.csv" ftype="csv"/> + <param name="fileC" value="T.csv" ftype="csv"/> + <param name="cutoff" value="8" type="float" /> + <output name="ofile" file="boxplot_output_test.pdf" ftype="pdf" /> + </test> + </tests> + <help> +**What it does** +VINYL is a software designed to assist in variant prioritization in medium-large cohort of patients. The program computes an aggregate score, which is based on an extensive collection of publicly available annotations, in order to identify/prioritize variants that are likely to be pathogenic or have a clinical significance. In order to derive an optimal cut off score for the variants, VINYL uses a strategy based on "survival analysis", where the pathogenicity score distribution of the affected individuals is compared with a matched cohort of unaffected individuals. +To facilitate the usage of the software, VINYL is provided in the form of a public Galaxy instance, based on the Laniakea suite. To ensure the maximum level of security, VINYL uses Encrypted data volumes for the storage of the data. + + + +**Important Usage Note** +This wrapper provides the module of VINYL that compares score distributions of single genes. Two input files need to be provided, both in tabular format. The first file must contain VINYL scores for affected individuals, the second, equivalent score for unaffected controls. Both files can be obtained by running VINYL on annovar-annotated vcf-files (see the manual and the VINYL wrapper for further explanations). +See the "survival" and the "VINYL" utilities in the for the delineation of the score cut-off value and the calculation of individual scores from a single vcf file. +A complete workflow that automates the exectuion of VINYL is avaiable at XXX + + + </help> + <citations> + </citations> +</tool>
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/R.csv Tue Jun 09 15:57:22 2020 +0000 @@ -0,0 +1,1251 @@ +CHR start gene ref alt AC 1000g2015aug_all CADD_raw CLNDISDB CLNDN CLNSIG ExAC_NFE ExonicFunc.refGene Func.refGene MetaSVM_pred esp6500siv2_ea gnomAD_exome_NFE gnomAD_genome_NFE VINYL_score +chr1 11905995 na C A 1 0.0221645 . . . . . . ncRNA_intronic . 0.0641 . 0.0516 -1 +chr1 11906068 NPPA A G 7 0.179113 1.595 MedGen:CN169374 not_specified Benign 0.1343 stoploss exonic . 0.1552 0.1405 0.1399 4 +chr1 11907422 NPPA C T 1 . . MedGen:C2677294,OMIM:612201 Atrial_fibrillation,_familial,_6 Likely_benign 7.555e-05 synonymous_SNV exonic . . 8.122e-05 0.0002 2 +chr1 11907603 na G A 6 0.129593 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.0753 . ncRNA_exonic . 0.0877 0.0805 0.0878 -1 +chr1 11907648 NPPA C T 2 0.0734824 0.267 . . . 0.0421 nonsynonymous_SNV exonic T 0.0471 0.0457 0.0459 -1 +chr1 78383301 NEXN T C 1 0.000399361 . MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0005 0.0002 6.667e-05 5.25 +chr1 78390821 NEXN CAAAAAGT CAAAAGT 2 0.00938498 . . . . . . intronic . 0.0251 . 0.0159 2 +chr1 78392446 NEXN G A 8 0.150759 5.664 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2142 nonsynonymous_SNV exonic T 0.2073 0.2106 0.2107 3 +chr1 78395131 NEXN A C 1 0.00319489 3.628 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2751084,OMIM:613122|MedGen:C3151267,OMIM:613876|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1CC|Familial_hypertrophic_cardiomyopathy_20|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0028 nonsynonymous_SNV exonic T 0.0024 0.0032 0.0033 7.5 +chr1 78401656 NEXN TAGAAGAAGAGC TAGAAGAGC 1 . . . . . 0.0001 nonframeshift_deletion exonic . . 8.093e-05 0.0001 8 +chr1 112321032 KCND3 T A 6 0.192692 . . . . 0.1960 . intronic . 0.1974 0.1992 0.2087 -1 +chr1 112329551 KCND3 G T 9 0.192692 . MedGen:CN169374 not_specified Benign 0.1492 . intronic . 0.1417 0.1469 0.1559 -2 +chr1 112524680 KCND3 C G 1 0.0081869 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign 0.0201 synonymous_SNV exonic . 0.0186 0.0214 0.0253 -2 +chr1 112524788 KCND3 G A 1 . . . . . 1.513e-05 synonymous_SNV exonic . . 8.964e-06 . 4 +chr1 112525085 KCND3 G A 8 0.0471246 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1233 synonymous_SNV exonic . 0.1205 0.1253 0.1178 -2 +chr1 116243868 CASQ2 A G 4 0.0309505 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0638 synonymous_SNV exonic . 0.0614 0.0631 0.0689 2 +chr1 116243877 CASQ2 G A 29 0.425719 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3619 synonymous_SNV exonic . 0.3573 0.3548 0.3609 2 +chr1 116245655 CASQ2 G C 16 0.216054 . . . . 0.2308 . intronic . 0.2029 0.2144 0.2207 2 +chr1 116247790 CASQ2 G A 28 0.428714 . MedGen:CN169374 not_specified Benign 0.3086 . intronic . 0.3197 0.3113 0.2918 2 +chr1 116247824 CASQ2 C T 3 . 4.702 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0006 0 5 +chr1 116260532 CASQ2 A T 46 0.642772 . MedGen:C2677794,OMIM:611938|MedGen:CN169374 Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign 0.5441 . intronic . 0.5505 0.5478 0.5345 2 +chr1 116260544 CASQ2 C T 25 0.250799 . . . . 0.2315 . intronic . 0.2274 0.2347 0.2379 2 +chr1 116268178 CASQ2 GAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC GAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAGAAAGAGCTTC 25 . . . . . 0.0456 . intronic . . . . 2 +chr1 116280971 CASQ2 G C 1 0.000199681 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 . intronic . . 0.0003 0.0005 4 +chr1 116283343 CASQ2 A G 60 0.64357 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign 0.8689 . intronic . 0.8780 0.8748 0.8575 2 +chr1 116310967 CASQ2 T C 35 0.401158 -1.622 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign 0.2837 nonsynonymous_SNV exonic T 0.2891 0.2901 0.2547 4 +chr1 156084760 LMNA C T 1 0.00678914 . 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: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:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0371 synonymous_SNV exonic . 0.0126 0.0141 0.0116 3.25 +chr1 156104779 LMNA G T 1 0.0565096 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0004 . intronic . 0.0007 0.0004 0.0006 2.625 +chr1 156105028 LMNA T C 11 0.193091 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0745 synonymous_SNV exonic . 0.0751 0.0722 0.0712 2.625 +chr1 156105928 LMNA G A 10 0.192292 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_specified|not_provided Benign/Likely_benign 0.0733 . intronic . 0.0748 0.0713 0.0704 3.25 +chr1 156106185 LMNA T C 11 0.249201 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|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|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0978 synonymous_SNV exonic . 0.0760 0.0734 0.0717 2.625 +chr1 156106863 LMNA C T 11 0.182308 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0738 . intronic . 0.0751 0.0714 0.0709 2 +chr1 156106964 LMNA C T 1 . 13.679 . . . . stopgain exonic . . . . 13 +chr1 156107534 LMNA C T 14 0.220248 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|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|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.2817 synonymous_SNV exonic . 0.2531 0.2649 0.2486 2.625 +chr1 156108976 LMNA G C 11 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3 . 0.0773 . 0.0708 2 +chr1 162313735 NOS1AP C T 23 0.430911 . . . . 0.3647 synonymous_SNV exonic . 0.3571 0.3580 0.3632 -2 +chr1 162335256 NOS1AP C T 14 0.250799 . . . . 0.1195 synonymous_SNV exonic . 0.1199 0.1169 0.1075 -2 +chr1 201328705 TNNT2 G A 3 0.0113818 . . . . 0.0364 . intronic . 0.0283 0.0301 0.0266 2 +chr1 201328824 TNNT2 G A 9 0.277157 . MedGen:CN169374 not_specified Benign 0.1326 . intronic . 0.1020 0.0985 0.0993 2 +chr1 201330366 TNNT2 G C 1 0.0579073 . MedGen:CN169374 not_specified Likely_benign 0.0026 . intronic . 0.0008 0.0020 0.0025 2 +chr1 201330429 TNNT2 T C 1 0.0974441 2.213 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0162 nonsynonymous_SNV exonic T 0.0148 0.0151 0.0179 4.25 +chr1 201331256 TNNT2 G A 1 0.00179712 . . . . 0.0040 . intronic . 0.0013 0.0018 0.0015 4 +chr1 201334382 TNNT2 G A 59 0.695088 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7147 synonymous_SNV exonic . 0.7184 0.7096 0.7202 2 +chr1 201334425 TNNT2 C T 1 . 7.867 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1832243,OMIM:601494|MedGen:C1861864,OMIM:115195|MedGen:C2676271,OMIM:612422|MedGen:CN230736|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_6|Familial_hypertrophic_cardiomyopathy_2|Familial_restrictive_cardiomyopathy_3|Cardiovascular_phenotype|not_provided Pathogenic . nonsynonymous_SNV exonic D . . . 20 +chr1 201334795 TNNT2 C T 9 0.0824681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0634 0.0619 0.0617 2 +chr1 201336984 TNNT2 C T 31 0.285543 . MedGen:CN169374 not_specified Benign 0.4552 . intronic . 0.4466 0.4556 0.4630 2 +chr1 201338553 TNNT2 T C 51 0.734625 . . . . . . intronic . 0.7219 . 0.7224 2 +chr1 201338896 TNNT2 T C 51 0.529952 . . . . 0.6175 . intronic . 0.6210 0.6161 0.6255 2 +chr1 201339043 TNNT2 C T,A 51 0.0495208 . . . . . . intronic . . . 0.0025 2 +chr1 201339044 TNNT2 G A 6 0.0678914 . . . . . . intronic . 0.1009 . 0.1003 2 +chr1 201341175 TNNT2 CAGAAGAGAAGT CAGAAGT 51 0.520367 . . . . 0.6146 . intronic . . 0.6134 0.6170 2 +chr1 201341260 TNNT2 C T 1 . . . . . 2.997e-05 . intronic . 0.0001 3.58e-05 0 8 +chr1 201341341 TNNT2 C T 60 0.771765 . . . . . . intronic . 0.7244 . 0.7258 2 +chr1 201342385 TNNT2 T C 1 . 1.538 MedGen:CN169374 not_specified Likely_benign 0 . UTR5 T . 2.685e-05 6.683e-05 8 +chr1 227069677 PSEN2 T C 58 0.735623 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7801 synonymous_SNV exonic . 0.7801 0.7788 0.7619 2 +chr1 227069737 PSEN2 C T 51 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5425 synonymous_SNV exonic . 0.5388 0.5342 0.5173 2 +chr1 227071449 PSEN2 G A 1 0.0179712 2.001 MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202 Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic D 0.0026 0.0024 0.0015 3 +chr1 227071472 PSEN2 G A 1 . 2.947 MedGen:CN517202 not_provided Likely_benign 7.511e-05 nonsynonymous_SNV exonic D 0.0001 9.855e-05 6.665e-05 9 +chr1 227071475 PSEN2 C T 1 0.00139776 5.492 MedGen:CN169374 not_specified Likely_benign 0.0037 nonsynonymous_SNV exonic D 0.0037 0.0039 0.0047 6 +chr1 227071525 PSEN2 C T 51 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5418 synonymous_SNV exonic . 0.5395 0.5348 0.5179 2 +chr1 227075813 PSEN2 A G 1 0.000399361 1.890 . . . 0.0003 nonsynonymous_SNV exonic D 0.0003 0.0003 0.0004 7 +chr1 227076671 PSEN2 T C 1 0.0291534 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0064 synonymous_SNV exonic . 0.0073 0.0062 0.0057 2 +chr1 227076757 PSEN2 G A 1 . . . . . 1.677e-05 . intronic . . 9.318e-06 . 8 +chr1 227078955 PSEN2 T C 58 0.722843 . . . . 0.7860 . intronic . 0.7797 0.7796 0.7624 2 +chr1 227081850 PSEN2 G A 50 0.574081 . . . . 0.5668 . intronic . 0.5608 0.5551 0.5390 2 +chr1 228399482 C1orf145 C G 44 0.721046 . . . . 0.6207 . ncRNA_intronic . 0.6129 0.6047 0.6098 -2 +chr1 228399519 OBSCN T A 1 0.00179712 3.232 MedGen:CN517202 not_provided Uncertain_significance 0.0075 nonsynonymous_SNV exonic D 0.0057 0.0058 0.0048 5 +chr1 228399766 OBSCN T C 38 0.726238 . . . . 0.6233 synonymous_SNV exonic . 0.6178 0.6077 0.6101 2 +chr1 228399799 OBSCN C T 1 0.0507188 . . . . 0.0482 synonymous_SNV exonic . 0.037 0.0415 0.0477 2 +chr1 228399824 OBSCN C A 2 . 2.522 . . . . nonsynonymous_SNV exonic T . . . 9 +chr1 228400178 OBSCN G A 1 . 0.338 . . . . nonsynonymous_SNV exonic T . . . 9 +chr1 228400286 OBSCN G T 1 . 11.257 . . . . stopgain exonic . . . . 13 +chr1 228401183 OBSCN G C 1 0.000998403 4.903 . . . 0.0002 nonsynonymous_SNV exonic D . 9.569e-05 0.0002 5 +chr1 228402047 OBSCN A G 44 0.719848 . . . . 0.6132 synonymous_SNV exonic . 0.6095 0.6117 0.6098 2 +chr1 228402121 OBSCN A G 44 0.719649 3.331 . . . 0.6122 nonsynonymous_SNV exonic T 0.6065 0.6117 0.6104 3 +chr1 228402508 OBSCN C T 30 0.275759 . . . . 0.4016 synonymous_SNV exonic . 0.3900 0.3857 0.3888 2 +chr1 228404169 OBSCN G A 1 . 2.214 . . . 0.0006 nonsynonymous_SNV exonic T . 0.0007 0.0007 5 +chr1 228404198 OBSCN G A 3 0.0535144 . . . . 0.0822 synonymous_SNV exonic . 0.0367 0.0404 0.0461 2 +chr1 228404305 OBSCN G A 1 0.00279553 -0.246 . . . 0.0171 nonsynonymous_SNV exonic T 0.0084 0.0089 0.0085 3 +chr1 228404997 OBSCN C T 3 0.0169728 . . . . 0.0407 . intronic . 0.0401 0.0415 0.0410 2 +chr1 228407010 OBSCN C T 30 0.285343 . . . . 0.4470 . intronic . . 0.3863 0.3856 2 +chr1 228407059 OBSCN G T 3 0.0135783 . . . . 0.0377 synonymous_SNV exonic . . 0.0369 0.0370 2 +chr1 228407260 OBSCN G A 30 0.277157 . . . . 0.4158 synonymous_SNV exonic . . 0.3813 0.3852 2 +chr1 228412227 OBSCN TG CA 30 . . . . . . nonframeshift_substitution exonic . . . . 9 +chr1 228412308 OBSCN G A 30 0.41254 . . . . 0.3933 synonymous_SNV exonic . 0.3925 0.3930 0.3944 2 +chr1 228431095 OBSCN A G 42 0.616613 . . . . 0.6797 synonymous_SNV exonic . 0.6828 0.6767 0.6910 2 +chr1 228432108 OBSCN C A 1 . 0.266 . . . 0.0001 nonsynonymous_SNV exonic T . 5.371e-05 . 9 +chr1 228432264 OBSCN A T 5 0.0171725 0.066 . . . 0.0425 nonsynonymous_SNV exonic T 0.0401 0.0419 0.0395 3 +chr1 228433217 OBSCN A G 42 0.616613 . . . . 0.6794 synonymous_SNV exonic . 0.6825 0.6768 0.6913 2 +chr1 228434395 OBSCN T C 42 0.617612 . . . . 0.6794 synonymous_SNV exonic . 0.6833 0.6768 0.6906 2 +chr1 228434467 OBSCN T C 42 0.66254 . . . . 0.6802 synonymous_SNV exonic . 0.6824 0.6773 0.6917 2 +chr1 228444565 OBSCN T A 74 1 0.030 . . . 1 nonsynonymous_SNV exonic T . 1 1 3 +chr1 228447463 OBSCN G A 2 0.00239617 0.355 . . . 0.0133 nonsynonymous_SNV exonic T 0.0110 0.0120 0.0103 3 +chr1 228451826 OBSCN C T 12 0.30631 0.352 . . . 0.2922 nonsynonymous_SNV exonic T 0.2810 0.2892 0.3003 3 +chr1 228452016 OBSCN G C 1 0.00399361 -1.319 . . . 0.0190 nonsynonymous_SNV exonic T 0.0195 0.0186 0.0189 3 +chr1 228456398 OBSCN G A 1 . 1.015 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.667e-05 7 +chr1 228461097 OBSCN C G 2 0.00219649 1.035 . . . 0.0079 nonsynonymous_SNV exonic T . 0.0074 0.0097 5 +chr1 228461129 OBSCN A G 42 0.69349 -0.541 . . . 0.6973 nonsynonymous_SNV exonic T 0.6953 0.6933 0.7098 3 +chr1 228461187 OBSCN T C 1 0.00958466 . . . . 0.0226 synonymous_SNV exonic . 0.0250 0.0219 0.0200 2 +chr1 228461757 OBSCN G A 19 0.206669 . . . . 0.1897 . intronic . 0.1774 0.1830 0.1770 2 +chr1 228464248 OBSCN T G 42 0.695487 -0.460 . . . 0.6998 nonsynonymous_SNV exonic T 0.6965 0.6944 0.7121 3 +chr1 228464255 OBSCN T C 1 0.00259585 4.777 . . . 0.0115 nonsynonymous_SNV exonic T 0.0109 0.0105 0.0102 3 +chr1 228464276 OBSCN T C 42 0.663538 -0.742 . . . 0.6993 nonsynonymous_SNV exonic T 0.6960 0.6931 0.7115 3 +chr1 228464303 OBSCN G T 1 0.00459265 1.771 . . . 0.0290 nonsynonymous_SNV exonic T 0.0278 0.0253 0.0274 3 +chr1 228464633 OBSCN C G 1 0.00299521 2.771 . . . 0.0069 nonsynonymous_SNV exonic T 0.0026 0.0010 0.0007 5 +chr1 228464713 OBSCN G A 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0005 0.0001 6.688e-05 4 +chr1 228464842 OBSCN C G 42 0.69369 . . . . 0.7158 . intronic . 0.6953 0.6887 0.7050 2 +chr1 228465031 OBSCN G A 1 0.000399361 . . . . 0.0031 . intronic . 0.0022 0.0030 0.0018 4 +chr1 228465346 OBSCN A G 30 0.330072 3.591 . . . 0.5114 nonsynonymous_SNV exonic . . 0.3862 0.3808 3 +chr1 228465370 OBSCN T G 41 0.669529 . . . . 0.7351 . intronic . . 0.6986 0.7141 2 +chr1 228465403 OBSCN G T 1 0.102835 . . . . 0.0683 . intronic . . 0.0596 0.0611 2 +chr1 228465585 OBSCN G A 1 . . . . . 6.418e-05 . intronic . 0.0001 9.355e-05 6.686e-05 8 +chr1 228466862 OBSCN C T 3 0.0421326 . . . . 0.0370 . intronic . 0.0331 0.0355 0.0363 2 +chr1 228467095 OBSCN T C 1 0.00219649 2.990 . . . 0.0071 nonsynonymous_SNV exonic T 0.0089 0.0078 0.0080 5 +chr1 228467711 OBSCN G A 1 0.0836661 3.250 . . . 0.0370 nonsynonymous_SNV exonic T 0.0184 0.0218 0.0221 3 +chr1 228468179 OBSCN A C 1 0.000199681 . . . . 0.0010 . intronic . 0.0005 0.0006 0.0003 4 +chr1 228468244 OBSCN G A 1 0.113618 . . . . 0.0230 synonymous_SNV exonic . 0.0183 0.0219 0.0225 2 +chr1 228468458 OBSCN G A 15 0.31889 1.572 . . . 0.3115 nonsynonymous_SNV exonic T 0.2785 0.3061 0.3193 3 +chr1 228469801 OBSCN G C 4 0.0111821 5.043 . . . 0.0216 nonsynonymous_SNV exonic T 0.0219 0.0211 0.0214 3 +chr1 228469870 OBSCN C T 1 0.0872604 2.777 . . . 0.0222 nonsynonymous_SNV exonic T 0.0178 0.0210 0.0217 3 +chr1 228469903 OBSCN AG TT 1 . . . . . . nonframeshift_substitution exonic . . . . 8 +chr1 228470995 OBSCN G T 15 0.318091 . . . . 0.3709 . intronic . 0.2859 0.2972 0.3185 2 +chr1 228471379 OBSCN G C 30 0.230232 . . . . 0.3727 synonymous_SNV exonic . 0.3681 0.3719 0.3705 3 +chr1 228474032 OBSCN G A 1 0.00958466 . . . . 0.0081 synonymous_SNV exonic . 0.0028 0.0012 0.0009 4 +chr1 228475848 OBSCN G A 15 0.302716 4.107 . . . 0.3041 nonsynonymous_SNV exonic T 0.2973 0.3017 0.3168 3 +chr1 228476366 OBSCN GA TT 1 . . . . . . nonframeshift_substitution exonic . . . . 8 +chr1 228476414 OBSCN G A 1 0.0938498 . . . . 0.0225 synonymous_SNV exonic . 0.0186 0.0218 0.0224 2 +chr1 228480282 OBSCN A G 44 0.698882 . . . . 0.7029 synonymous_SNV exonic . 0.7022 0.6999 0.7148 2 +chr1 228480441 OBSCN G A 1 0.00958466 . . . . 0.0030 synonymous_SNV exonic . 0.0032 0.0012 0.0009 4 +chr1 228481854 OBSCN C T 2 0.000199681 . . . . 0.0006 synonymous_SNV exonic . 0.0004 0.0003 0.0003 4 +chr1 228481917 OBSCN G A 1 0.00878594 . . . . 0.0193 synonymous_SNV exonic . 0.0229 0.0188 0.0157 2 +chr1 228481940 OBSCN C T 1 . 0.911 . . . 2.997e-05 nonsynonymous_SNV exonic T 0.0001 3.581e-05 6.674e-05 9 +chr1 228482010 OBSCN C T 24 0.381989 . . . . 0.4961 synonymous_SNV exonic . 0.4953 0.497 0.5212 2 +chr1 228482028 OBSCN G C 20 0.21246 . . . . 0.1837 synonymous_SNV exonic . 0.1766 0.1808 0.1697 2 +chr1 228482569 OBSCN G A 4 0.0127796 . . . . 0.0324 synonymous_SNV exonic . 0.0324 0.0338 0.0346 2 +chr1 228486404 OBSCN C T 19 0.165935 0.548 . . . 0.1816 nonsynonymous_SNV exonic T 0.1788 0.1769 0.1673 3 +chr1 228491633 OBSCN G A 4 0.052516 0.427 . . . 0.0391 nonsynonymous_SNV exonic T 0.0397 0.0372 0.0372 3 +chr1 228492044 OBSCN G A 26 0.369209 . . . . 0.4986 synonymous_SNV exonic . 0.4905 0.4974 0.5219 2 +chr1 228492220 OBSCN C T 1 0.00539137 2.422 . . . 0.0176 nonsynonymous_SNV exonic T 0.0158 0.0179 0.0175 3 +chr1 228494144 OBSCN T G 1 . 3.953 . . . 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0008 0.0007 5 +chr1 228494357 OBSCN C T 19 0.166733 . . . . 0.1894 . intronic . 0.1716 0.1765 0.1683 2 +chr1 228494696 OBSCN G A 19 0.308506 . . . . 0.2636 synonymous_SNV exonic . 0.1945 0.2031 0.1925 2 +chr1 228494790 OBSCN G A 26 0.26857 2.944 . . . 0.4976 nonsynonymous_SNV exonic T 0.4939 0.4972 0.5210 3 +chr1 228495177 OBSCN C T 1 0.00119808 . . . . 0.0007 synonymous_SNV exonic . 0.0002 0.0005 0.0003 4 +chr1 228495983 OBSCN G A 1 . 2.180 . . . 0.0023 nonsynonymous_SNV exonic T 0.0017 0.0025 0.0018 5 +chr1 228496013 OBSCN C T 1 0.000599042 4.963 . . . 0.0007 nonsynonymous_SNV exonic T 0.0001 0.0006 0.0003 5 +chr1 228496014 OBSCN G A 19 0.213059 . . . . 0.2152 synonymous_SNV exonic . 0.1772 0.1819 0.1705 2 +chr1 228497286 OBSCN C A 1 0.0932508 . . . . 0.0227 . intronic . 0.0188 0.0218 0.0224 2 +chr1 228503677 OBSCN A G 44 0.700879 -2.279 . . . 0.7111 nonsynonymous_SNV exonic T 0.7056 0.6950 0.7144 3 +chr1 228503711 OBSCN G A 1 0.0129792 . . . . 0.0523 synonymous_SNV exonic . 0.0327 0.0380 0.0432 2 +chr1 228504472 OBSCN T C 44 0.699281 -1.304 . . . 0.7040 nonsynonymous_SNV exonic T 0.7008 0.6982 0.7147 3 +chr1 228504591 OBSCN C A 19 0.145367 1.476 . . . 0.2674 nonsynonymous_SNV exonic T 0.1672 0.1833 0.1681 3 +chr1 228504668 OBSCN CG CA 2 . . . . . . frameshift_deletion exonic . . . . 8 +chr1 228504669 OBSCN G A 16 0.145567 . . . . 0.2135 synonymous_SNV exonic . 0.1453 0.1818 0.1725 2 +chr1 228504670 OBSCN C T 25 0.330272 3.693 . . . 0.5071 nonsynonymous_SNV exonic T 0.4398 0.4992 0.5236 3 +chr1 228504700 OBSCN AGC AGCTCCC 1 . . . . . . . intronic . . . . 8 +chr1 228504701 OBSCN GCT GCTCCCT 35 . . . . . . . intronic . . . . 9 +chr1 228505204 OBSCN G A 19 0.315296 3.357 . . . 0.2095 nonsynonymous_SNV exonic T 0.1944 0.2031 0.1924 3 +chr1 228505257 OBSCN G A 2 0.000399361 3.689 . . . 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0002 5 +chr1 228505574 OBSCN C T 1 . . . . . 4.758e-05 . intronic . . 5.559e-05 6.68e-05 8 +chr1 228505668 OBSCN C G 44 0.699281 0.755 . . . 0.7027 nonsynonymous_SNV exonic T 0.7016 0.6997 0.7146 3 +chr1 228505699 OBSCN T C 44 0.705871 . . . . 0.7045 synonymous_SNV exonic . 0.7008 0.7007 0.7147 2 +chr1 228505727 OBSCN C T 1 0.086262 2.382 . . . 0.0226 nonsynonymous_SNV exonic T 0.0186 0.0218 0.0222 3 +chr1 228505739 OBSCN G A 19 0.173123 0.313 . . . 0.1804 nonsynonymous_SNV exonic T 0.1735 0.1780 0.1681 3 +chr1 228509427 OBSCN A G 44 0.684704 -0.311 . . . 0.7021 nonsynonymous_SNV exonic T 0.6968 0.6995 0.7147 3 +chr1 228520880 OBSCN C T 18 0.341853 . . . . 0.4551 . intronic . 0.4158 0.4122 0.4488 2 +chr1 228520973 OBSCN C G 18 0.335064 1.995 . . . 0.4651 nonsynonymous_SNV exonic T 0.4179 0.4187 0.4485 3 +chr1 228522483 OBSCN C T 3 0.034345 . . . . 0.0484 . intronic . 0.0328 0.0369 0.0369 2 +chr1 228523005 OBSCN TGGGGGT TGGGGGGT 10 0.469449 . . . . 0.4474 . intronic . 0.4253 0.6301 0.6579 2 +chr1 228523011 OBSCN T G 1 . . . . . . . intronic . . 0.0333 0 2 +chr1 228523448 OBSCN G A 2 0.352636 . . . . 0.4257 . intronic . 0.3968 0.4286 0.4463 2 +chr1 228523618 OBSCN G A 26 0.474241 . . . . . . intronic . 0.5195 . 0.5431 2 +chr1 228524961 OBSCN C A 18 0.239816 . . . . 0.4306 synonymous_SNV exonic . 0.4226 0.4274 0.4482 2 +chr1 228525008 OBSCN G A 15 0.0766773 4.879 . . . 0.1499 nonsynonymous_SNV exonic T 0.1356 0.1403 0.1305 4 +chr1 228525627 OBSCN C A 18 0.240216 . . . . 0.4565 . intronic . 0.4221 0.4218 0.4463 2 +chr1 228525823 OBSCN C T 1 0.000998403 6.985 . . . 0.0004 nonsynonymous_SNV exonic D 0.0004 0.0007 0.0005 10 +chr1 228526011 OBSCN C T 15 0.117612 . . . . 0.1745 synonymous_SNV exonic . 0.1578 0.1490 0.1545 2 +chr1 228526619 OBSCN G A 2 0.000399361 3.667 . . . 0.0008 nonsynonymous_SNV exonic T 0.0001 0.0005 0.0005 5 +chr1 228526665 OBSCN T C 26 0.494409 . . . . 0.5318 synonymous_SNV exonic . 0.5569 0.5179 0.5447 2 +chr1 228526742 OBSCN CCACACACACACACACACACACACACACACACACACGTCCAT CCACACACACACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACACACACGTCCAT 26 . . . . . 0.1081 . intronic . . 0.1567 0.0823 2 +chr1 228527758 OBSCN G C 1 0.000399361 6.172 . . . 0.0006 nonsynonymous_SNV exonic D 0.0004 0.0007 0.0004 10 +chr1 228528412 OBSCN G A 18 0.351837 . . . . 0.4383 . intronic . 0.4247 0.4300 0.4487 2 +chr1 228528563 OBSCN C G 26 0.538738 0.194 . . . 0.5577 nonsynonymous_SNV exonic T 0.5203 0.5185 0.5473 3 +chr1 228529129 OBSCN C A 8 0.138179 . . . . 0.1101 . intronic . 0.0945 0.0990 0.1036 2 +chr1 228543800 OBSCN C T 8 0.172125 . . . . . . intronic . 0.0899 . 0.0976 2 +chr1 228547901 OBSCN C T 30 0.298722 . . . . 0.2981 synonymous_SNV exonic . 0.3011 0.2996 0.2846 2 +chr1 228548197 OBSCN G A 8 0.147764 -0.089 . . . 0.0996 nonsynonymous_SNV exonic T 0.0857 0.0907 0.0958 3 +chr1 228550344 OBSCN G A 1 0.000199681 . . . . 0.0008 synonymous_SNV exonic . 0.0007 0.0007 0.0005 4 +chr1 228550426 OBSCN C T 8 0.146965 -0.124 . . . 0.1364 nonsynonymous_SNV exonic T 0.0834 0.0910 0.0959 3 +chr1 228550429 OBSCN C T 4 0.0443291 0.627 . . . 0.0622 nonsynonymous_SNV exonic T 0.0362 0.0374 0.0360 3 +chr1 228553245 OBSCN C T 1 . . . . . . synonymous_SNV exonic . . 1.842e-05 . 8 +chr1 228556788 OBSCN C T 35 0.320487 . . . . 0.3910 . intronic . 0.3585 0.3722 0.3616 2 +chr1 228557681 OBSCN G A 1 . 7.200 . . . 0.0002 nonsynonymous_SNV exonic D 0.0004 0.0001 6.693e-05 10 +chr1 228558892 OBSCN C T 8 0.033746 6.518 . . . 0.0775 nonsynonymous_SNV exonic T 0.0650 0.0658 0.0713 3 +chr1 228558952 OBSCN T G 1 0.00219649 2.292 . . . 0.0158 nonsynonymous_SNV exonic T 0.0103 0.0092 0.0119 3 +chr1 228559167 OBSCN C A 1 . . . . . . synonymous_SNV exonic . . . . 8 +chr1 228559430 OBSCN G A 1 0.0217652 -0.220 . . . 0.0364 nonsynonymous_SNV exonic T 0.0309 0.0366 0.0372 3 +chr1 228559450 OBSCN G A 1 0.00199681 -0.731 . . . 0.0111 nonsynonymous_SNV exonic T 0.0077 0.0118 0.0099 3 +chr1 228559967 OBSCN C T 8 0.00499201 2.939 . . . 0.0326 nonsynonymous_SNV exonic T 0.0136 0.0139 0.0110 3 +chr1 228559994 OBSCN C T 46 0.589058 2.792 . . . 0.5975 nonsynonymous_SNV exonic T 0.5033 0.5120 0.4981 4 +chr1 228560139 OBSCN A G 70 0.974241 . . . . 0.9239 synonymous_SNV exonic . 0.9259 0.9205 0.9202 2 +chr1 228560426 OBSCN A C 1 . 5.647 . . . 6.506e-05 nonsynonymous_SNV exonic T . 2.699e-05 0 9 +chr1 228560592 OBSCN A G 2 0.000199681 . . . . 0.0007 synonymous_SNV exonic . 0.0005 0.0004 6.678e-05 4 +chr1 228560700 OBSCN T C 59 0.757987 . . . . 0.5550 synonymous_SNV exonic . 0.5485 0.5490 0.5350 2 +chr1 228562350 OBSCN T C 1 0.00519169 . . . . 0.0261 synonymous_SNV exonic . 0.0280 0.0253 0.0283 2 +chr1 228562438 OBSCN G A 1 0.000199681 -0.095 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.684e-05 7 +chr1 228564747 OBSCN G T 1 0.000199681 . . . . 0.0009 . intronic . . 0.0002 0.0002 4 +chr1 228564884 OBSCN G A 9 0.140775 1.749 . . . 0.1419 nonsynonymous_SNV exonic T 0.0847 0.0935 0.0981 3 +chr1 228565208 OBSCN C T 1 0.0117812 . . . . 0.0437 synonymous_SNV exonic . 0.0354 0.0385 0.0430 2 +chr1 228565209 OBSCN G A 1 0.00179712 7.258 . . . 0.0019 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0004 5 +chr1 228566126 OBSCN G T 2 . . . . . . . intronic . . 0 . 8 +chr1 229567660 ACTA1 CGGCGGGGAGC CGGGGGGGGAGC,CGGGCGGGGAGC,CGGGGGGGAGC,CGGCGGGGGAGC 2 0.00279553 . MedGen:CN169374 not_specified Likely_benign 0.0063 . intronic . . 0.0051 0.0047 4 +chr1 229567663 ACTA1 C G 11 0.139377 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign 0.1726 . intronic\x3bintronic . 0.0331 0.1577 0.1596 4 +chr1 229567668 ACTA1 A G 1 . . . . . . . intronic . . 9.796e-06 . 8 +chr1 229568632 ACTA1 A G 20 0.273962 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign 0.1808 . intronic . 0.1807 0.1743 0.1643 4 +chr1 229568637 ACTA1 C G 18 0.211861 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign 0.1769 . intronic . 0.1751 0.1715 0.1622 4 +chr1 236849952 ACTN2 C T 5 0.0115815 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0379 . UTR5 . 0.0399 0.0351 0.0323 3.25 +chr1 236882303 ACTN2 T C 74 0.992612 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 0.9998 1.0000 1 2 +chr1 236883421 ACTN2 C T 74 0.920727 . MedGen:CN169374 not_specified Benign 0.9953 synonymous_SNV exonic . 0.9953 0.9951 0.9949 2 +chr1 236894647 ACTN2 G A 29 0.491613 . . . . 0.3134 . intronic . 0.3102 0.3086 0.2938 2 +chr1 236899042 ACTN2 G A 9 0.195887 . MedGen:CN169374 not_specified Benign 0.1386 . intronic . 0.1356 0.1341 0.1276 2 +chr1 236900554 ACTN2 C T 6 0.00539137 . . . . 0.0236 . intronic . 0.0266 0.0230 0.0231 2 +chr1 236902594 ACTN2 C G 58 0.767572 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7749 . intronic . 0.7763 0.7764 0.7852 3.25 +chr1 236907966 ACTN2 G A 4 0.0347444 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0113 synonymous_SNV exonic . 0.0144 0.0116 0.0109 4.5 +chr1 236914754 ACTN2 T C 1 0.00119808 . MedGen:C2677338,OMIM:612158|MedGen:CN169374 Dilated_cardiomyopathy_1AA|not_specified Benign 0.0018 . intronic . 0.0014 0.0019 0.0013 4.625 +chr1 236925844 ACTN2 G A 13 0.196086 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1447 synonymous_SNV exonic . 0.1392 0.1441 0.1429 3.25 +chr1 237527741 RYR2 G T 1 0.00239617 . . . . . . intronic . . . 0 4 +chr1 237540615 RYR2 A C 11 0.362819 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2482 . intronic . 0.2293 0.2366 0.2498 2 +chr1 237551376 RYR2 T A 40 0.55651 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5716 . intronic . 0.5597 0.5652 0.5458 2 +chr1 237586384 RYR2 T C 10 0.170128 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1016 . intronic . 0.0985 0.0994 0.0891 2 +chr1 237608842 RYR2 C T 1 0.00658946 . MedGen:CN169374 not_specified Benign 0.0077 . intronic . 0.0060 0.0084 0.0077 4 +chr1 237617757 RYR2 C T 40 0.535743 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5907 synonymous_SNV exonic . 0.6005 0.5953 0.5988 2 +chr1 237619993 RYR2 G A 1 . 4.480 . . . . nonsynonymous_SNV exonic D . . . 9 +chr1 237620049 RYR2 T C 39 0.53115 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5449 . intronic . 0.5441 0.5458 0.5521 2 +chr1 237632512 RYR2 T C 1 0.00299521 . . . . 0.0081 . intronic . 0.0092 0.0089 0.0080 4 +chr1 237655173 RYR2 A T 6 0.0215655 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0369 synonymous_SNV exonic . 0.0180 0.0244 0.0229 2 +chr1 237656289 RYR2 C T 1 0.00219649 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0117 synonymous_SNV exonic . 0.0083 0.0072 0.0052 2 +chr1 237670107 RYR2 A G 1 . 6.031 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 5.386e-05 0.0002 8 +chr1 237670140 RYR2 A G 43 0.699481 . MedGen:CN169374 not_specified Benign 0.6691 . intronic . 0.6578 0.6648 0.6682 2 +chr1 237711797 RYR2 A G 69 0.830272 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9594 synonymous_SNV exonic . 0.9585 0.9589 0.9567 2 +chr1 237753074 RYR2 ATTTTTTTTTTCTTCCCA ATTTTTTTTTCTTCCCA 32 0.285144 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign/Likely_benign 0.4969 . intronic . 0.4430 0.4791 0.4511 2 +chr1 237765311 RYR2 TAA TA 1 . . . . . . . intronic . . . . 8 +chr1 237774051 RYR2 C T 2 0.0638978 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0016 . intronic . 0.0012 0.0006 0.0008 2 +chr1 237778084 RYR2 G A 4 0.076278 0.814 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0307 nonsynonymous_SNV exonic T 0.0311 0.0308 0.0263 3 +chr1 237780626 RYR2 G A 1 . 4.322 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Uncertain_significance 9.761e-05 nonsynonymous_SNV exonic T . 3.601e-05 0.0002 7 +chr1 237789101 RYR2 T C 1 . 1.290 . . . 0 nonsynonymous_SNV exonic T . 0 . 9 +chr1 237801770 RYR2 T C 74 0.954872 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9994 0.9998 0.9999 2 +chr1 237802395 RYR2 G C 1 . 6.802 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_pathogenic . nonsynonymous_SNV exonic D . . . 10 +chr1 237811766 RYR2 C T 1 0.00159744 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0081 synonymous_SNV exonic . 0.0067 0.0060 0.0065 4 +chr1 237814783 RYR2 C T 35 0.554912 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.4739 synonymous_SNV exonic . 0.4361 0.4232 0.4477 2 +chr1 237823256 RYR2 A C 5 0.0407348 . MedGen:CN169374 not_specified Benign 0.0776 . intronic . 0.0530 0.0532 0.0522 2 +chr1 237829952 RYR2 G A 1 0.00119808 . . . . . . intronic . 0.0041 . 0.0023 4 +chr1 237841390 RYR2 A G 20 0.0992412 2.365 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.3459 nonsynonymous_SNV exonic T 0.3042 0.3066 0.3170 3 +chr1 237850716 RYR2 C T 1 0.00139776 . . . . 0.0084 . intronic . 0.0064 0.0050 0.0042 4 +chr1 237863718 RYR2 T G 74 0.969249 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9994 0.9993 2 +chr1 237872887 RYR2 T C 3 0.00938498 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance 0.0186 . intronic . 0.0166 0.0153 0.0114 2 +chr1 237875068 RYR2 C T 1 0.00339457 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0054 synonymous_SNV exonic . 0.0033 0.0039 0.0030 4 +chr1 237881770 RYR2 C T 73 0.960463 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9995 synonymous_SNV exonic . 0.9995 0.9995 0.9995 2 +chr1 237890437 RYR2 C T 73 0.960264 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9995 0.9995 2 +chr1 237893674 RYR2 C T 74 0.985224 . MedGen:CN169374 not_specified Benign 0.9999 . intronic . 0.9998 0.9998 0.9998 2 +chr1 237905568 RYR2 TCCTTTTTTTTTTTTTTTAAATATACA TCCCTTTTTTTTTTTTTTTAAATATACA,TCCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTTTAAATATACA 74 . . MedGen:CN169374 not_specified Likely_benign 0.0840 . intronic\x3bintronic . . . 0.0794 2 +chr1 237905570 RYR2 CTTTTTTTTTTTTTTTAAATATACA CTTTTTTTTTTTTTTTTAAATATACA,CTTTTTTTTTTTTTTAAATATACA 74 . . MedGen:CN169374 not_specified Likely_benign 0.2724 . intronic\x3bintronic . . . 0.0087 2 +chr1 237905571 RYR2 T C 1 . . MedGen:CN169374 not_specified Benign 0.1644 . intronic\x3bintronic . . 0.0948 0.0051 2 +chr1 237923053 RYR2 C T 56 0.761581 . MedGen:CN169374 not_specified Benign 0.6849 . intronic . 0.6923 0.6833 0.6808 2 +chr1 237923081 RYR2 G A 1 . 4.805 . . . . nonsynonymous_SNV exonic D . . . 9 +chr1 237924352 RYR2 G A 1 . . . . . 0 . intronic . . 3.068e-05 6.661e-05 8 +chr1 237941945 RYR2 G A 3 0.0445288 . MedGen:CN169374 not_specified Likely_benign 0.0427 . intronic . 0.0458 0.0452 0.0483 2 +chr1 237942082 RYR2 AACTGCCTT ACCTT 3 0.00978435 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0141 . intronic . 0.0158 0.0153 0.0123 2 +chr1 237946964 RYR2 T C 19 0.414736 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.4541 . intronic . 0.3387 0.3349 0.3411 2 +chr1 237947000 RYR2 C T 3 0.0123802 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0170 synonymous_SNV exonic . 0.0173 0.0154 0.0130 2 +chr1 237948286 RYR2 A G 2 0.0107827 0.618 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0147 . intronic . 0.0092 0.0107 0.0080 2 +chr1 237951451 RYR2 A G 31 0.636581 . MedGen:CN169374 not_specified Benign 0.5490 . intronic . 0.5443 0.5343 0.5375 2 +chr1 237957146 RYR2 G A 42 0.734026 . MedGen:CN169374 not_specified Benign 0.6639 . intronic . 0.6579 0.6539 0.6755 2 +chr1 237957161 RYR2 A G 43 0.757588 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.6873 . intronic . 0.6785 0.6791 0.6941 2 +chr1 237957309 RYR2 A C 41 0.750799 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.6717 . intronic . 0.6684 0.6715 0.6851 2 +chr1 237965131 RYR2 GCATTTTTTTTTTTTGTCATTG ACATTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTGTCATTG 41 . . . . . . . intronic . . . . 9 +chr1 237965133 RYR2 ATTTTTTTTTTTTGTCATTG ATTTTTTTTTTTGTCATTG 1 . . MedGen:CN169374 not_specified Benign/Likely_benign 0.1446 . intronic . . 0.1302 0.0033 2 +chr1 237972189 RYR2 A G 2 0.0091853 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0087 . intronic . 0.0078 0.0090 0.0074 4 +chr1 237982383 RYR2 C A 1 0.00279553 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.0004 synonymous_SNV exonic . . 9.853e-05 0.0001 4 +chr1 237991767 RYR2 T C 2 0.00938498 . . . . 0.0111 . intronic . 0.0072 0.0091 0.0082 2 +chr1 237993877 RYR2 G C 1 . . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . . 0.0001 0.0001 8 +chr10 18430167 CACNB2 G C 2 0.00798722 . . . . 0.0366 . intronic . 0.0274 0.0172 0.0139 -2 +chr10 18439769 CACNB2 AATAATCTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG AATAATCTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2 . . . . . . frameshift_substitution exonic . . . . 4 +chr10 18439775 CACNB2 CTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG CTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . . . intronic . . . . 4 +chr10 18439777 CACNB2 TATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . 0.0013 . intronic\x3bintronic . . . . 0 +chr10 18439779 CACNB2 TTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . . . intronic . . . . 4 +chr10 18439784 CACNB2 CTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,CTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,CTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . 0.0007 . intronic . . . . 0 +chr10 18439810 CACNB2 AGTCATA TGTCATA,TTTTTTT 2 . . . . . . frameshift_substitution exonic . . . . 4 +chr10 18439926 CACNB2 T C 7 0.0632987 . . . . 0.1292 . intronic . 0.1213 0.1275 0.1093 -2 +chr10 18690063 CACNB2 TTATTTTGTCT TT 1 . . . . . . . intronic . . . . 4 +chr10 18789724 CACNB2 T G 27 0.229832 . MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome_4|not_specified Benign 0.3240 . intronic . 0.3157 0.3230 0.3179 -2 +chr10 18803338 CACNB2 A G 2 0.014377 . . . . 0.0720 . intronic . 0.0767 0.0752 0.0773 -2 +chr10 18816565 CACNB2 G A 2 0.00359425 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0112 synonymous_SNV exonic . 0.0124 0.0116 0.0112 -2 +chr10 18816633 CACNB2 C T 11 0.239417 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.1597 . intronic . 0.1603 0.1604 0.1784 -2 +chr10 18828371 CACNB2 C T 11 0.23722 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1593 synonymous_SNV exonic . 0.1615 0.1600 0.1784 -2 +chr10 18828635 CACNB2 T G 25 0.0970447 2.791 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1826 nonsynonymous_SNV exonic T 0.1729 0.1809 0.1766 -1 +chr10 18828661 CACNB2 CCG CCT 4 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 3.196e-05 . UTR3\x3bUTR3 . . 0 . 4.5 +chr10 18828662 CACNB2 CG CT 7 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 3.196e-05 . UTR3\x3bUTR3 . . 0 . 5 +chr10 18828663 CACNB2 G T 51 0.774361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome|Brugada_syndrome_4|not_specified Benign/Likely_benign 0.7877 . UTR3 . . 0.7836 0.7942 -1 +chr10 18828669 CACNB2 GTTTTTTTTTTTTTTTTTTTGAAGTC GTTTTTTTTTTTTTTTTTTGAAGTC,GTTTTTTTTTTTTTTTTTGAAGTC,GCTTTTTTTTTTTTTTTTTGAAGTC,GTTTTTTTTTTTTTTTTGAAGTC,GCTTTTTTTTTTTTTTTTTTGAAGTC,TTTTTTTTTTTTTTTTTTTTGAAGTC 51 . . . . . . . UTR3 . . . . 5 +chr10 18828670 CACNB2 T C 12 0.0756789 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 0.2713 . UTR3\x3bUTR3 . . 0.0916 0.1957 -2 +chr10 21074724 NEBL T C 8 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV exonic . 0.0762 0.0734 0.0776 2 +chr10 21076100 NEBL C A 1 0.221845 . . . . 0.0298 . intronic . 0.0238 0.0213 0.0177 2 +chr10 21097546 NEBL G A 1 0.00139776 6.526 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Likely_benign 0.0034 nonsynonymous_SNV exonic T 0.0041 0.0041 0.0039 6.25 +chr10 21106525 NEBL A G 1 0.000798722 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0002 . intronic . 0.0002 0.0003 6.66e-05 4 +chr10 21106567 NEBL G C 1 . 2.705 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.979e-06 . 9 +chr10 21108377 NEBL C T 16 0.183706 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2958 synonymous_SNV exonic . 0.2952 0.2986 0.3057 2 +chr10 21108395 NEBL C T 1 . . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004 Primary_dilated_cardiomyopathy Likely_benign 7.492e-05 synonymous_SNV exonic . . 8.069e-05 0.0001 9.25 +chr10 21112111 NEBL A T 18 0.302117 . . . . 0.3146 . intronic . 0.2187 0.2795 0.2738 2 +chr10 21112137 NEBL A T 1 0.124601 2.904 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0231 nonsynonymous_SNV exonic T 0.0224 0.0216 0.0187 3 +chr10 21115347 NEBL A G 2 0.00559105 . . . . 0.0126 . intronic . 0.0131 0.0121 0.0096 2 +chr10 21120096 NEBL G A 1 0.000399361 . . . . 0.0003 . intronic . 0.0005 0.0003 0.0002 4 +chr10 21120116 NEBL A G 25 0.46905 . MedGen:CN169374 not_specified Benign 0.3503 . intronic . 0.3458 0.3524 0.3394 2 +chr10 21134282 NEBL C G 10 0.0385383 5.403 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0832 nonsynonymous_SNV exonic T 0.0828 0.0808 0.0742 3 +chr10 21139389 NEBL T C 10 0.038738 1.032 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0833 nonsynonymous_SNV exonic T 0.0834 0.0811 0.0743 3 +chr10 21141440 NEBL AGGGAGGGT AGGAGGGT 14 0.252796 . . . . 0.2575 . intronic . 0.2555 0.2637 0.2586 2 +chr10 21141469 NEBL T C 74 0.952476 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9993 . intronic . 0.9994 0.9994 0.9997 2 +chr10 21158660 NEBL A G 1 0.000399361 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004 Primary_dilated_cardiomyopathy Benign 3.005e-05 . intronic . . 4.491e-05 6.664e-05 6.625 +chr10 21177128 NEBL G C 1 0.000599042 9.147 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0021 stopgain exonic . 0.0017 0.0023 0.0027 11.5 +chr10 21177143 NEBL GAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT GAAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT,GAAAAAAAAACAGGAAAAAATAAATAAATAAACTT 1 0.540535 . . . . 0.6507 . intronic\x3bintronic . 0.6444 0.6390 0.6549 2 +chr10 21177156 NEBL GAAAAAAATAAATAAATAAACTT GAAAAAATAAATAAATAAACTT 46 0.540535 . . . . 0.6507 . intronic\x3bintronic . 0.6444 0.6390 0.6549 2 +chr10 21178889 NEBL G T 1 0.00119808 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0047 . intronic . 0.0070 0.0055 0.0044 4 +chr10 21462711 NEBL C T 1 . 4.391 . . . . nonsynonymous_SNV exonic T . 0 . 9 +chr10 67726514 CTNNA3 A C 22 0.352636 . MedGen:CN169374 not_specified Benign 0.3036 . intronic . 0.3110 0.3028 0.3127 -2 +chr10 68040240 CTNNA3 G T 2 0.0690895 . MedGen:C3810138,OMIM:615616|MedGen:CN169374 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified Benign 0.0210 synonymous_SNV exonic . 0.0205 0.0181 0.0161 -2 +chr10 68040325 CTNNA3 C T 30 0.485024 0.202 . . . 0.3747 nonsynonymous_SNV exonic T 0.3621 0.3655 0.3892 -1 +chr10 68280453 CTNNA3 T A 1 0.000599042 1.014 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Likely_benign 0.0013 nonsynonymous_SNV exonic T 0.0015 0.0018 0.0015 1 +chr10 68979348 CTNNA3 T C 1 0.0323482 . . . . 0.0011 . intronic . 0.0010 0.0011 0.0009 -2 +chr10 69281585 CTNNA3 A C 8 0.187101 . . . . 0.1131 . intronic . 0.1113 0.1108 0.1357 -2 +chr10 69281732 CTNNA3 A G 3 0.0593051 . MedGen:CN169374 not_specified Benign 0.0535 . intronic . 0.0592 0.0553 0.0539 -2 +chr10 69299372 CTNNA3 T G 2 0.0147764 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0183 synonymous_SNV exonic . 0.0226 0.0199 0.0176 -2 +chr10 69299446 CTNNA3 T A 6 0.195487 . MedGen:CN169374 not_specified Benign 0.1056 . intronic . 0.1024 0.1047 0.0960 -2 +chr10 69366602 CTNNA3 T C 20 0.529952 . MedGen:CN169374 not_specified Benign 0.2901 . intronic . 0.2893 0.2871 0.2905 -2 +chr10 69881254 MYPN A G 1 0.000998403 5.316 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN169882|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified|Familial_hypertrophic_cardiomyopathy_22|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0014 nonsynonymous_SNV exonic D 0.0012 0.0016 0.0011 11 +chr10 69905300 MYPN G A 10 0.295927 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0783 . intronic . 0.0807 0.0778 0.0747 2.625 +chr10 69908113 MYPN C T 1 0.00339457 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0073 synonymous_SNV exonic . 0.0087 0.0078 0.0068 5.25 +chr10 69908157 MYPN T C 3 0.120607 0.535 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0155 nonsynonymous_SNV exonic T 0.0147 0.0160 0.0178 3.625 +chr10 69908241 MYPN G A 7 0.121605 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0618 . intronic . 0.0643 0.0608 0.0557 2.625 +chr10 69909802 MYPN G A 5 0.0842652 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.0880 synonymous_SNV exonic . 0.0826 0.0854 0.0795 2 +chr10 69909844 MYPN C A 1 0.00199681 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0008 0.0007 0.0006 5.25 +chr10 69909899 MYPN G A 5 0.14996 . . . . 0.0893 . intronic . 0.0826 0.0860 0.0803 2 +chr10 69926097 MYPN T C 43 0.482628 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.6868 synonymous_SNV exonic . 0.6960 0.6904 0.7102 2 +chr10 69926319 MYPN C A 11 0.116613 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1679 synonymous_SNV exonic . 0.1735 0.1614 0.1621 2 +chr10 69926325 MYPN C T 13 0.157748 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1823 synonymous_SNV exonic . 0.1866 0.1760 0.1790 2 +chr10 69926334 MYPN C G 31 0.316494 0.756 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5038 nonsynonymous_SNV exonic T 0.5095 0.5137 0.5306 3 +chr10 69933921 MYPN G A 31 0.335863 0.657 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4801 nonsynonymous_SNV exonic T 0.48 0.4878 0.5016 3 +chr10 69933969 MYPN G A 31 0.32508 1.882 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4795 nonsynonymous_SNV exonic T 0.4798 0.4873 0.5011 3 +chr10 69934012 MYPN C A 2 0.0429313 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0144 synonymous_SNV exonic . 0.0123 0.0143 0.0164 2.625 +chr10 69934258 MYPN C G 37 0.471446 2.029 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5520 nonsynonymous_SNV exonic T 0.5509 0.5577 0.5682 3 +chr10 69934259 MYPN G A 1 0.0103834 2.875 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0278 nonsynonymous_SNV exonic T 0.035 0.0292 0.0245 3.625 +chr10 69935235 MYPN T C 74 0.982428 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.9996 . intronic . 0.9990 0.9997 0.9997 2.625 +chr10 69948844 MYPN T C 74 0.984625 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.9997 synonymous_SNV exonic . 0.9994 0.9999 0.9998 2 +chr10 69959242 MYPN C A 30 0.340256 6.536 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.4806 nonsynonymous_SNV exonic T 0.4786 0.4879 0.5020 3.625 +chr10 69959345 MYPN GCTGGGAC GC 31 . . . . . . . intronic . . . . 9 +chr10 75849841 VCL G A 1 0.000199681 2.336 MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic T 0.0003 0.0005 0.0009 7.5 +chr10 75849921 VCL T C 1 0.00199681 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign 0.0062 synonymous_SNV exonic . 0.0056 0.0062 0.0047 4.625 +chr10 75865065 VCL G A 44 0.324681 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5852 synonymous_SNV exonic . 0.5895 0.5798 0.5824 2 +chr10 75871735 VCL C G 56 0.623003 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7428 synonymous_SNV exonic . 0.7521 0.7412 0.7447 2 +chr10 88439177 LDB3 G A 1 0.000798722 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0036 synonymous_SNV exonic . 0.0033 0.0040 0.0056 4 +chr10 88441198 LDB3 C T 1 . . . . . 1.575e-05 synonymous_SNV exonic . . 9.246e-06 . 8 +chr10 88441223 LDB3 G A 1 0.00159744 1.436 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0072 nonsynonymous_SNV exonic T 0.0070 0.0068 0.0067 5 +chr10 88445385 LDB3 G C 54 0.624201 . MedGen:CN169374 not_specified Benign 0.7452 . intronic . 0.7528 0.7447 0.7454 2 +chr10 88447027 LDB3 T C 1 0.00339457 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0056 synonymous_SNV exonic . 0.0036 0.0048 0.0044 4 +chr10 88466465 LDB3 C T 2 0.0201677 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign 0.0489 synonymous_SNV exonic . 0.0369 0.0442 0.0477 2 +chr10 88485931 LDB3 C T 2 0.00139776 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0039 synonymous_SNV exonic . 0.0043 0.0048 0.0046 4 +chr10 92675649 ANKRD1 GAAAACG GAAACG 12 0.178714 . MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.1657 . intronic . 0.1575 0.1591 0.1705 2 +chr10 92678738 ANKRD1 AAAATAAATAAATATATATATATATATATATATATAG AAAATATATATATATATATATATATATATATAG,AAAATATATATATATATATATATATATATAG,AAAATATATGTATATATAG,AAAATATATATATATATATATATATATATATATAG,AAAATATATATATATATATATATATATATATATATAG,AAAATAAATAAATATATATATATATATATATATATATAG 12 . . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0146 . intronic . . 0.0021 0.0164 2 +chr10 92678740 ANKRD1 AATAAATAAATATATATATATATATATATATATAG AATATATGTATATATAG,AATATATATAG,AATATATATATATATAG,AATATATATATATATATATATATATATAG,AATATATATATATATATATATATATATATATAG,AATATATGTATATATAGCATGAGAGATATATATATAG,AATATATATATATATATATATATATATATATATAG,AATATATGTATATATAGCATGATATATATATATATAG 12 . . . . . . . intronic . . . . 9 +chr10 92678744 ANKRD1 AATAA TATGT,TATAT 12 . . . . . . . intronic\x3bintronic\x3bintronic . . . . 9 +chr10 92678755 ANKRD1 ATATATAT AGCATGAGAG 1 . . . . . . . intronic . . . . 8 +chr10 92678756 ANKRD1 T G 1 . . . . . . . intronic . . . . 8 +chr10 92678765 ANKRD1 A G 27 0.441094 . . . . 0.6758 . intronic . . 0.6641 0.5462 2 +chr10 101473218 COX15 A G 68 0.827077 0.914 MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374 Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified Benign 0.8737 nonsynonymous_SNV exonic T 0.8733 0.8763 0.8814 -1 +chr10 101474499 COX15 T C 13 0.233427 . . . . 0.2828 . intronic . 0.2957 0.2904 0.3256 -1 +chr10 112404302 RBM20 G A 10 0.222244 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1372 synonymous_SNV exonic . . 0.1492 0.1394 2 +chr10 112404420 RBM20 G A 1 . . . . . . . intronic . . . . 8 +chr10 112541062 RBM20 G A 1 0.0271565 5.048 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0017 nonsynonymous_SNV exonic T 0.0016 0.0012 0.0003 4.25 +chr10 112543217 RBM20 G A 52 0.788139 . . . . 0.7966 . intronic . 0.7879 0.7960 0.8062 2 +chr10 112544063 RBM20 A C 46 0.633986 . . . . 0.5824 . intronic . 0.5698 0.5772 0.5783 2 +chr10 112544655 RBM20 C T 7 0.164137 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2137 . intronic . 0.2200 0.2240 0.2270 2 +chr10 112570130 RBM20 G C 2 0.0365415 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0253 . intronic . 0.0245 0.0229 0.0225 3.25 +chr10 112570243 RBM20 T C 32 0.316494 . . . . 0.3895 . intronic . 0.3755 0.3846 0.3705 2 +chr10 112572458 RBM20 G C 74 0.991014 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 nonsynonymous_SNV exonic . 0.9994 0.9997 0.9997 4.25 +chr10 112579854 RBM20 A G 1 . -2.871 . . . . nonsynonymous_SNV exonic T . . . 9 +chr10 112590810 RBM20 G C 74 0.969649 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 . intronic . 0.9994 0.9998 0.9998 3.25 +chr10 112595719 RBM20 G C 66 0.697085 5.504 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8681 nonsynonymous_SNV exonic T 0.8724 0.8665 0.8760 4.25 +chr10 121411171 BAG3 G A 1 0.000199681 . MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0052 . UTR5 . 0.0037 0.0040 0.0035 4 +chr10 121429394 BAG3 G A 2 0.00738818 2.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0301 nonsynonymous_SNV exonic T 0.0326 0.0312 0.0351 4.25 +chr10 121429633 BAG3 T C 13 0.0964457 4.176 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.2214 nonsynonymous_SNV exonic T 0.2073 0.2177 0.2062 3 +chr10 121432002 BAG3 A G 1 . 4.801 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified Uncertain_significance 6.021e-05 nonsynonymous_SNV exonic T 0.0001 3.594e-05 . 9 +chr10 121432040 BAG3 C T 1 0.000199681 2.527 MedGen:CN169374 not_specified Likely_benign 1.507e-05 nonsynonymous_SNV exonic T . 1.804e-05 0 7 +chr10 121436068 BAG3 T G 6 0.155751 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0846 synonymous_SNV exonic . 0.0881 0.0861 0.0958 2 +chr10 121436286 BAG3 C T 6 0.155551 3.244 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0844 nonsynonymous_SNV exonic T 0.0877 0.0860 0.0960 3 +chr10 121436362 BAG3 A G 59 0.70647 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.7819 synonymous_SNV exonic . 0.7792 0.7841 0.7798 2 +chr11 2608850 KCNQ1 G T 1 0.000599042 0.832 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|not_provided Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic D 0.0008 0.0012 0.0004 5 +chr11 2683177 KCNQ1OT1 C T 1 0.0129792 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.0112 . ncRNA_exonic . 0.0138 0.0128 0.0136 -2 +chr11 2790163 KCNQ1 T C 8 0.0461262 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.1177 . intronic . 0.1172 0.1165 0.1083 2 +chr11 2797237 KCNQ1 G A 13 0.180911 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.2836 synonymous_SNV exonic . 0.1932 0.1866 0.2029 2 +chr11 2797320 KCNQ1 A G 46 0.668331 . . . . 0.6840 . intronic . 0.6891 0.6784 0.6863 2 +chr11 2798305 KCNQ1 T C 18 0.223842 . . . . 0.2406 . intronic . 0.2302 0.2356 0.2468 2 +chr11 2799299 KCNQ1 G T 1 0.0133786 . . . . 0.0484 . intronic . 0.0511 0.0514 0.0608 2 +chr11 6629665 ILK C T 21 0.314696 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2634 synonymous_SNV exonic . 0.25 0.2605 0.2609 2 +chr11 6630028 ILK TCCCCCAT TCCCCAT 74 1 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign 1.0000 . intronic . . 1.0000 1 2 +chr11 6630223 ILK G C 1 . . . . . . . intronic . . . . 8 +chr11 6630410 ILK T C 12 0.120807 . . . . 0.2542 . intronic . 0.2548 0.2530 0.2603 2 +chr11 6630524 ILK C T 1 0.000399361 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Benign 0.0009 . intronic . 0.0010 0.0008 0.0004 4.625 +chr11 6630833 ILK G A 21 0.347444 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2642 synonymous_SNV exonic . 0.2514 0.2615 0.2613 2 +chr11 6631016 ILK C T 12 0.160144 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2594 synonymous_SNV exonic . 0.2647 0.2581 0.2689 3 +chr11 6631300 ILK G A 1 0.00579073 . . . . 0.0173 . intronic . 0.0177 0.0164 0.0124 2 +chr11 19207841 CSRP3 C T 8 0.0427316 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1124 synonymous_SNV exonic . 0.1073 0.1089 0.0981 2 +chr11 19209713 CSRP3 G A 1 . 5.210 MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124 Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12 Uncertain_significance 2.998e-05 nonsynonymous_SNV exonic T . 1.794e-05 . 9 +chr11 47353498 MYBPC3 G A 9 0.356629 . . . . . . intronic . 0.1747 . 0.1750 4 +chr11 47353695 MYBPC3 C T 1 . 4.508 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified Uncertain_significance 6.02e-05 nonsynonymous_SNV exonic T 0.0004 5.375e-05 . 7 +chr11 47354787 MYBPC3 C T 17 0.476238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3910 synonymous_SNV exonic . 0.3039 0.3187 0.3157 5.25 +chr11 47354905 MYBPC3 T C 12 0.0329473 . MedGen:CN169374 not_specified Benign 0.1510 . intronic . 0.1060 0.1074 0.1200 2 +chr11 47356582 MYBPC3 GGGGC AGGGG 1 . . . . . . . intronic . . . . 8 +chr11 47357416 MYBPC3 G A 2 0.0547125 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0528 . intronic . 0.0257 0.0239 0.0275 3.25 +chr11 47358997 MYBPC3 G A 2 0.048123 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0385 synonymous_SNV exonic . 0.0351 0.0385 0.0411 3.25 +chr11 47360053 MYBPC3 G C 2 0.0694888 . MedGen:C1861862,OMIM:115197|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_4|not_specified Benign 0.0392 . intronic . 0.0363 0.0393 0.0421 2.625 +chr11 47360197 MYBPC3 C A 1 . 13.358 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_provided Pathogenic . stopgain exonic . . . . 18 +chr11 47361280 MYBPC3 A T 1 . . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . 0.0001 0.0001 6.671e-05 8 +chr11 47362642 MYBPC3 C T 3 0.00898562 . MedGen:CN169374 not_specified Benign 0.0272 . intronic . 0.0192 0.0218 0.0229 2 +chr11 47364259 MYBPC3 G C 1 . . MedGen:CN169374 not_specified Likely_benign 9.002e-05 synonymous_SNV exonic . . 8.057e-05 0 8 +chr11 47365199 MYBPC3 G A 22 0.249601 . MedGen:CN169374 not_specified Benign 0.3310 . intronic . 0.3084 0.3074 0.2921 4 +chr11 47367758 MYBPC3 C T 1 . 5.140 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569 Hypertrophic_cardiomyopathy Pathogenic . nonsynonymous_SNV exonic T . . . 9 +chr11 47369443 MYBPC3 G A 10 0.0611022 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2120 synonymous_SNV exonic . 0.1184 0.1256 0.1173 3.25 +chr11 47370041 MYBPC3 T C 10 0.0670927 0.243 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1393 nonsynonymous_SNV exonic T 0.1263 0.1305 0.1209 5.25 +chr11 47371475 MYBPC3 T G 2 . 4.578 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy Pathogenic/Likely_pathogenic . . splicing . . . . 18 +chr11 47371484 MYBPC3 AGGGGCGA AGGGCGA 50 0.610823 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7343 . intronic . 0.7248 0.7173 0.7226 3.25 +chr11 47371578 MYBPC3 G A 3 0.00838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0487 synonymous_SNV exonic . 0.0307 0.0318 0.0302 3.25 +chr11 47371598 MYBPC3 C T 4 0.0329473 4.662 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1402 nonsynonymous_SNV exonic T 0.0864 0.0933 0.1009 4.25 +chr11 47371697 MYBPC3 T C 1 . . . . . 0.0001 . intronic . . 1.77e-05 6.672e-05 8 +chr11 47372096 MYBPC3 C A 1 . . . . . . synonymous_SNV exonic . . . . 8 +chr11 74168411 KCNE3 A G 11 0.141174 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1151 synonymous_SNV exonic . 0.1084 0.1106 0.1314 -2 +chr11 111781047 CRYAB A C 22 0.239816 -0.652 Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign 0.2914 . intronic T 0.3000 0.2894 0.2783 4 +chr11 111782284 CRYAB C T 2 0.0091853 . Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign 0.0232 synonymous_SNV exonic . 0.0226 0.0206 0.0210 2.625 +chr11 118015832 SCN4B G A 2 0.0349441 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0398 synonymous_SNV exonic . 0.0374 0.0392 0.0372 -2 +chr11 118037813 SCN2B G T 35 0.514377 . MedGen:CN169374 not_specified Benign 0.4739 . intronic . 0.4707 0.4661 0.4683 -1 +chr11 118047045 SCN2B C T 1 0.00199681 . . . . 0.0030 . intronic . 0.0023 0.0031 0.0018 0 +chr11 123504945 SCN3B G A 1 0.000199681 . . . . 0.0016 . intronic . 0.0020 0.0017 0.0014 0 +chr11 123504959 SCN3B C G 44 0.750599 . . . . 0.5550 . intronic . 0.5523 0.5519 0.5424 -2 +chr11 123513161 SCN3B G A 10 0.0820687 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0915 synonymous_SNV exonic . 0.0896 0.0880 0.0882 -2 +chr11 123524411 SCN3B G A 3 0.142173 . . . . 0.1402 . intronic . 0.1395 0.1415 0.1368 -2 +chr11 128781339 KCNJ5 T C 71 0.869808 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8296 synonymous_SNV exonic . 0.8250 0.8274 0.8249 -2 +chr11 128781978 KCNJ5 T G 71 0.866214 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8277 synonymous_SNV exonic . 0.8216 0.8250 0.8212 -1 +chr11 128782002 KCNJ5 T C 71 0.867013 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8276 synonymous_SNV exonic . 0.8216 0.8248 0.8211 -1 +chr11 128782012 KCNJ5 C G 73 0.995008 0.157 MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.9791 nonsynonymous_SNV exonic T 0.9820 0.9792 0.9776 -1 +chr11 128782112 KCNJ5 C T 1 0.076278 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign 0.0110 . intronic . 0.0083 0.0100 0.0073 -2 +chr11 128786294 KCNJ5 G A 66 0.735823 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign 0.7338 . intronic . 0.7279 0.7323 0.7287 -2 +chr12 2224511 CACNA1C C T 2 0.0117812 . 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:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0383 synonymous_SNV exonic . 0.0235 0.0265 0.0218 2 +chr12 2229476 CACNA1C G A 2 0.0253594 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign 0.0265 . intronic . 0.0265 0.0266 0.0219 2 +chr12 2558186 CACNA1C G A 21 0.120407 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.2489 synonymous_SNV exonic . 0.2146 0.2094 0.2123 2 +chr12 2558298 CACNA1C GTT ATC 22 . . . . . . . intronic . . . . 9 +chr12 2595358 CACNA1C C T 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified Likely_benign 0.0004 synonymous_SNV exonic . 0.0001 0.0001 0.0003 6 +chr12 2613589 CACNA1C T G 1 . . . . . . . intronic . . . . 8 +chr12 2613716 CACNA1C C T 11 0.0782748 . MedGen:CN169374 not_specified Benign 0.0824 . intronic . 0.0868 0.0817 0.0716 2 +chr12 2614070 CACNA1C G T 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0034 synonymous_SNV exonic . 0.0034 0.0033 0.0027 4 +chr12 2659082 CACNA1C G T 23 0.294928 . . . . 0.3105 . intronic . 0.2256 0.2304 0.2286 2 +chr12 2694638 CACNA1C C T 9 0.145567 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1305 synonymous_SNV exonic . 0.0786 0.0851 0.0765 2 +chr12 2706687 CACNA1C C T 1 . . . . . . . intronic . . . . 8 +chr12 2706720 CACNA1C G C 73 0.951278 . . . . . . intronic . 0.9739 . 0.9762 2 +chr12 2715862 CACNA1C G A 1 . . . . . 2.477e-05 . intronic . . 2.063e-05 0 8 +chr12 2721131 CACNA1C C A 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0029 0.0021 0.0015 4 +chr12 2721137 CACNA1C C T 19 0.259185 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1852 synonymous_SNV exonic . . 0.1838 0.1901 2 +chr12 2757752 CACNA1C AGAGTCCCT AGAGCCCCT 2 0.666933 . . . . . . intronic\x3bintronic . . . 0.8137 2 +chr12 2757755 CACNA1C GTCCCT GCCCCT 4 0.666933 . . . . . . intronic\x3bintronic . . . 0.8137 2 +chr12 2760898 CACNA1C C T 3 0.023762 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0683 synonymous_SNV exonic . 0.0673 0.0672 0.0676 2 +chr12 2774833 CACNA1C T C 1 0.0385383 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0031 synonymous_SNV exonic . 0.0035 0.0033 0.0027 2 +chr12 2778210 na G A 1 . . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0002 . ncRNA_intronic . 0.0002 0.0002 0.0002 2 +chr12 2786236 na CTC CC 1 . . . . . 0 . ncRNA_exonic . . 1.827e-05 . 4 +chr12 2788615 CACNA1C C T 1 0.00299521 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0261 synonymous_SNV exonic . 0.0072 0.0094 0.0130 2 +chr12 2788668 CACNA1C C G 1 0.000399361 2.872 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0007196,Orphanet:ORPHA217632|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN517202 Long_QT_syndrome|Cardiomyopathy,_restrictive|Brugada_syndrome|Timothy_syndrome|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T . 0.0006 0.0005 5 +chr12 2788810 CACNA1C C T 6 0.019369 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0675 synonymous_SNV exonic . 0.0613 0.0646 0.0690 2 +chr12 2788879 CACNA1C G A 44 0.526358 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.7349 synonymous_SNV exonic . 0.7295 0.7229 0.7396 2 +chr12 2789641 CACNA1C G A 1 . 0.352 . . . . nonsynonymous_SNV exonic T . . . 9 +chr12 2789686 CACNA1C TC CG 1 . . . . . . nonframeshift_substitution exonic . . . . 8 +chr12 2789697 CACNA1C AGGAG GGGAC 1 . . . . . . nonframeshift_substitution exonic . . . . 8 +chr12 2789718 CACNA1C CT TG 1 . . . . . . nonframeshift_substitution exonic . . . . 8 +chr12 2789737 CACNA1C G C 1 . -0.302 . . . . nonsynonymous_SNV exonic T . . . 9 +chr12 2789755 na TC CT 1 . . . . . . . ncRNA_intronic . . . . 4 +chr12 2791130 CACNA1C CGA TGG,CGG 1 . . . . . . frameshift_deletion exonic . . . . 8 +chr12 2791205 CACNA1C A G 74 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . 1 1 1 3 +chr12 2794977 CACNA1C G A 1 0.0359425 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0299 synonymous_SNV exonic . . 0.0237 0.0206 2 +chr12 5153694 KCNA5 C T 1 0.0147764 . MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Benign/Likely_benign 0.0390 synonymous_SNV exonic . 0.0411 0.0403 0.0411 -2 +chr12 5154462 KCNA5 T C 74 0.98103 . MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.9999 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2 +chr12 21926288 KCNJ8 G C 1 0.000199681 3.056 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0005 0.0003 1 +chr12 21958998 ABCC9 CAAAAAAAAAAAAGTGT CAAAAAAAAAAAGTGT 1 . . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN230736 Cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.3659 . intronic . . 0.2895 0.0073 2 +chr12 21965027 ABCC9 A C 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.97e-06 . 8 +chr12 21995312 ABCC9 C T 1 0.00499201 0.881 MedGen:C1837839,OMIM:608569|MedGen:CN169374 Dilated_cardiomyopathy_1O|not_specified Benign 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0002 5.625 +chr12 21995409 ABCC9 T G 1 . . MedGen:C1837839,OMIM:608569 Dilated_cardiomyopathy_1O Likely_benign 0.0001 . intronic . 0.0006 0.0002 0.0002 5.25 +chr12 22005167 ABCC9 C T 1 0.00259585 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0093 . intronic . 0.0098 0.0096 0.0139 2 +chr12 22016003 ABCC9 AGAAAAAAAAAAACACCAGG AGAAAAAAAAAACACCAGG 1 0.360423 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4122 . intronic\x3bintronic . . 0.4112 0.3188 2 +chr12 22016004 ABCC9 GAAAAAAAAAAACACCAGG GAAAAAAAAAACACCAGG 23 0.360423 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4122 . intronic\x3bintronic . . 0.4112 0.3188 2 +chr12 22017410 ABCC9 C T 2 0.00399361 2.389 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0107 nonsynonymous_SNV exonic T 0.0132 0.0115 0.0089 4.25 +chr12 22017422 ABCC9 A G 74 0.998203 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 1 . intronic . 1 1 1 2 +chr12 22017486 ABCC9 C G 74 0.998203 . . . . . . intronic . 1 . 1 2 +chr12 22059054 ABCC9 A G 1 . . . . . 1.502e-05 . intronic . . 1.798e-05 . 8 +chr12 22061007 ABCC9 T G 1 . . MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 0.0001 . intronic . 0.0003 8.094e-05 0 6 +chr12 22063115 ABCC9 A G 74 0.997204 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 1.0000 synonymous_SNV exonic . 1 1 1 2 +chr12 22063251 ABCC9 CAAAAAAAAAAAAAAGAGTAC CAAAAAAAAAAAAAGAGTAC,CAAAAAAAAAAAAAAAGAGTAC 74 . . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0394 . intronic . . 0.0356 0.0139 2 +chr12 22063749 ABCC9 T C 74 0.991613 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 . intronic . 0.9998 0.9999 0.9997 2 +chr12 22066006 ABCC9 GAAAAAAAAAAGAAAAAAAAAACAGATGT GAAAAAAAAAGAAAAAAAAAACAGATGT 3 . . . . . 0.0229 . intronic . 0.0198 0.0199 0.0168 2 +chr12 22068849 ABCC9 G T 49 0.644768 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.6025 . intronic . 0.5925 0.5915 0.5917 2 +chr12 32945486 PKP2 G T 3 0.0339457 . . . . . . intronic . 0.0283 . 0.0253 2 +chr12 32945495 PKP2 C T 43 0.450479 . . . . . . intronic . . . 0.6571 2 +chr12 32949029 PKP2 ACT AGCT 8 0.318291 . MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1396 . intronic . 0.1393 0.1401 0.1401 2 +chr12 32949251 PKP2 AACA AAA,AAAA 8 . . . . . 0.0198 . intronic . . 0.0092 0.0007 2 +chr12 32949252 PKP2 ACA AA 5 0.304912 . MedGen:CN169374 not_specified Benign 0.1115 . intronic\x3bintronic . 0.1207 0.0915 0.1204 2 +chr12 32955330 PKP2 G A 1 0.0716853 . MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0133 . intronic . 0.0117 0.0125 0.0099 2 +chr12 32974352 PKP2 G A 1 0.000199681 7.044 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 0.0002 6.664e-05 8 +chr12 32974391 PKP2 CAA CA 1 . . . . . . frameshift_deletion exonic . . . . 8 +chr12 32996137 PKP2 GAA AAT 2 . . . . . . nonframeshift_substitution exonic . . . . 8 +chr12 33021934 PKP2 A G 21 0.151358 0.112 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2099 nonsynonymous_SNV exonic T 0.2301 0.2200 0.2192 3 +chr12 33030802 PKP2 T C 1 0.000998403 -1.051 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0029 nonsynonymous_SNV exonic T 0.0022 0.0010 0.0007 7.5 +chr12 33030841 PKP2 CCGCCTGGCCGACAGT CCAGG 1 . . . . . . frameshift_substitution exonic . . . . 8 +chr12 33031884 PKP2 G T 2 . . MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0006 synonymous_SNV exonic . 0.0002 0.0004 . 4 +chr12 33049457 PKP2 C A 1 0.0131789 3.446 MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0289 nonsynonymous_SNV exonic T 0.0261 0.0260 0.0297 3 +chr12 33049590 PKP2 C T 2 0.00299521 6.871 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456|MedGen:CN239181|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular|Cardiomyopathy,_ARVC|not_provided Benign/Likely_benign 0.0231 nonsynonymous_SNV exonic D 0.0068 0.0097 0.0077 4 +chr12 98927830 TMPO C G 7 0.0589058 1.914 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0989 nonsynonymous_SNV exonic T 0.0965 0.0986 0.0957 5 +chr12 98940228 TMPO ATTCA ATTTCA 5 0.086262 . MedGen:CN169374 not_specified Benign 0.0751 . intronic . 0.0840 0.0760 0.0844 2 +chr12 98941637 TMPO A G 1 0.00279553 . MedGen:CN169374 not_specified Likely_benign 0.0050 . UTR3 . 0.0059 0.0050 0.0037 4 +chr12 111350901 MYL2 T G 1 . 6.176 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:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|Dilated_cardiomyopathy_1S|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic D 0.0006 0.0003 0.0003 11 +chr12 111350999 MYL2 G A,T 1 0.00439297 . . . . 0.0142 . intronic . . 0.0155 0.0181 2 +chr12 111351003 MYL2 AGGGGGCA AGGGGGGCA 4 0.10024 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Benign 0.0702 . intronic . 0.0664 0.0653 0.0729 2.625 +chr12 111351029 MYL2 TCCCCCACAG TCCCCACAG 18 0.252596 . MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided Benign 0.2953 . intronic . 0.3138 0.3028 0.3084 2.625 +chr12 111351186 MYL2 C T 4 0.102636 . MedGen:CN517202 not_provided not_provided . . intronic . 0.0644 . 0.0727 2 +chr12 111351963 MYL2 GACACACACACACACACACG GACACACACACACACACACACG 2 . . MedGen:CN169374 not_specified Likely_benign 0.0905 . intronic . 0.0653 0.1604 0.0740 2 +chr12 111351973 MYL2 CA CAGA 1 . . . . . . . intronic . . . . 8 +chr12 111353556 MYL2 A G 5 0.115216 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0848 synonymous_SNV exonic . 0.0801 0.0873 0.0908 3.25 +chr12 111358266 MYL2 C T 1 0.0155751 . . . . . . intronic . 0.0116 . 0.0145 2 +chr14 23854155 MYH6 G A 9 0.0363419 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1066 synonymous_SNV exonic . 0.1158 0.1089 0.1111 3 +chr14 23854272 MYH6 T C 4 0.072484 . MedGen:CN169374 not_specified Benign 0.0877 . intronic . 0.0844 0.0831 0.0785 3 +chr14 23855233 MYH6 C T 1 . . . . . 4.5e-05 synonymous_SNV exonic . . 2.687e-05 . 8 +chr14 23855320 MYH6 G A 9 0.0365415 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1067 synonymous_SNV exonic . 0.1159 0.1090 0.1111 3 +chr14 23855569 MYH6 A G 38 0.492812 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4821 synonymous_SNV exonic . 0.4855 0.4772 0.4524 2 +chr14 23855849 MYH6 C T 21 0.235224 . MedGen:CN169374 not_specified Benign 0.2676 . intronic . 0.2634 0.2645 0.2387 2 +chr14 23856714 MYH6 G A 3 0.019369 . . . . 0.0409 . intronic . 0.0417 0.0379 0.0341 2 +chr14 23857351 MYH6 G A 26 0.419728 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3592 . intronic . 0.3660 0.3605 0.3456 2 +chr14 23858099 MYH6 T C 1 . 3.514 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . nonsynonymous_SNV exonic D . . . 9 +chr14 23858232 MYH6 C T 8 0.0347444 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1103 synonymous_SNV exonic . 0.1172 0.1116 0.1166 3 +chr14 23858271 MYH6 AGGGGGGGGGGCACC AGGGGGGGGGCACC,AGGGGGGGGCACC 8 . . MedGen:C2750467,OMIM:613251|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_14|not_specified Benign 0.1486 . intronic . . 0.1598 0.1710 2.625 +chr14 23858272 MYH6 G A 1 0.0119808 . 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 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0021 . intronic . . 0.0004 0.0004 3.25 +chr14 23859610 MYH6 C T 11 0.0728834 5.149 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1217 nonsynonymous_SNV exonic T . 0.1183 0.1101 3 +chr14 23861811 MYH6 A G 31 0.3748 0.873 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3635 nonsynonymous_SNV exonic T 0.3737 0.3631 0.3678 3 +chr14 23862710 MYH6 C T 1 0.00419329 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0129 synonymous_SNV exonic . 0.0120 0.0113 0.0151 3.25 +chr14 23865885 MYH6 G A 30 0.367812 . MedGen:CN169374 not_specified Benign 0.3548 . intronic . 0.3628 0.3529 0.3604 2 +chr14 23866146 MYH6 G C 2 0.0325479 . . . . 0.0144 . intronic . 0.0124 0.0122 0.0097 2 +chr14 23866189 MYH6 G A 2 0.0339457 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0146 synonymous_SNV exonic . 0.0127 0.0124 0.0097 3.25 +chr14 23869993 MYH6 G A 4 0.0321486 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0668 synonymous_SNV exonic . 0.0620 0.0639 0.0547 2 +chr14 23871692 MYH6 C T 1 0.000199681 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0013 0.0016 0.0021 6.5 +chr14 23871840 MYH6 G T 1 0.00119808 . . . . 0.0066 . intronic . 0.0060 0.0072 0.0058 4 +chr14 23871909 MYH6 G A 1 0.0423323 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0102 synonymous_SNV exonic . 0.0087 0.0092 0.0061 3.25 +chr14 23872666 MYH6 T C 62 0.784944 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7624 . intronic . 0.7680 0.7600 0.7593 2 +chr14 23873021 MYH6 C T 3 0.0455272 . . . . 0.0377 . intronic . 0.0364 0.0340 0.0294 2 +chr14 23873940 MYH6 C T 1 0.00199681 3.478 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0082 nonsynonymous_SNV exonic T 0.0069 0.0080 0.0058 6.25 +chr14 23874507 MYH6 G T 9 0.0776757 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1055 synonymous_SNV exonic . 0.1095 0.1041 0.0996 2 +chr14 23874523 MYH6 C T 22 0.154353 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2607 synonymous_SNV exonic . 0.2608 0.2581 0.2614 2 +chr14 23874541 MYH6 C T 7 0.0571086 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0824 synonymous_SNV exonic . 0.0884 0.0829 0.0862 2 +chr14 23876216 MYH6 G A 3 0.0497204 . MedGen:CN169374 not_specified Benign 0.0298 . intronic . 0.0364 0.0329 0.0297 2 +chr14 23876267 MYH6 C T 7 0.0567093 5.156 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0824 nonsynonymous_SNV exonic T 0.0883 0.0829 0.0860 3 +chr14 23882144 MYH7 T C 32 0.384385 . . . . . . intronic . 0.3705 . 0.3720 2 +chr14 23883184 MYH7 C T 13 0.134984 . MedGen:CN169374 not_specified Benign 0.1570 . intronic . 0.1524 0.1562 0.1659 2 +chr14 23884353 MYH7 C T 1 . 7.265 MedGen:CN517202 not_provided Pathogenic . nonsynonymous_SNV exonic D . 8.952e-06 . 10 +chr14 23884476 MYH7 C T 1 . 6.268 Gene:619511,MedGen:C1850709,OMIM:255160|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:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374 Myopathy,_myosin_storage,_autosomal_recessive|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_cardiomyopathy_1S|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified Conflicting_interpretations_of_pathogenicity 7.492e-05 nonsynonymous_SNV exonic D . 9.846e-05 0.0002 10.5 +chr14 23884889 MYH7 C T 10 0.117612 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1175 synonymous_SNV exonic . 0.1317 0.1224 0.1213 2 +chr14 23886226 MHRT G A 1 0.00359425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0100 . ncRNA_intronic . 0.0128 0.0108 0.0115 -2 +chr14 23886383 MYH7 G A 2 . 6.811 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 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Cardiovascular_phenotype Pathogenic/Likely_pathogenic . nonsynonymous_SNV exonic D . . . 15 +chr14 23888685 MYH7 G A 1 0.00119808 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign 0.0036 . intronic . 0.005 0.0041 0.0029 4 +chr14 23889445 MYH7 TGGTC TGGGTC 6 0.0403355 . 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:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0027 . splicing . . 0.0129 0.0704 7.625 +chr14 23891481 MYH7 C T 1 0.00319489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0073 synonymous_SNV exonic . 0.0077 0.0093 0.0091 4.625 +chr14 23892888 MYH7 A G 28 0.376398 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.3270 synonymous_SNV exonic . 0.3288 0.3225 0.3257 2 +chr14 23895233 MYH7 C T 1 . 6.690 . . . . nonsynonymous_SNV exonic D . . . 10 +chr14 23898507 MYH7 G A 1 . . . . . . synonymous_SNV exonic . . 0 . 8 +chr14 23898994 MYH7 G A 7 0.15615 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0794 synonymous_SNV exonic . 0.0867 0.0801 0.0785 2 +chr14 23899027 MYH7 C T 12 0.0796725 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1567 synonymous_SNV exonic . 0.1513 0.1551 0.1635 2 +chr14 23899060 MYH7 G A 7 0.0638978 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0779 synonymous_SNV exonic . 0.0795 0.0767 0.0738 2 +chr14 23899793 MYH7 G A 6 0.0145767 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0292 synonymous_SNV exonic . 0.0290 0.0281 0.0232 2 +chr14 23900093 MYH7 C T 2 0.0471246 . MedGen:CN169374 not_specified Likely_benign 0.0095 . intronic . 0.0091 0.0080 0.0064 3 +chr14 23900794 MYH7 G A 14 0.263778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1618 synonymous_SNV exonic . 0.1680 0.1604 0.1547 2 +chr14 23901012 MYH7 T C 1 0.00579073 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0152 synonymous_SNV exonic . 0.0147 0.0157 0.0127 2 +chr14 23901996 MYH7 C T 1 . . MedGen:CN169374 not_specified Likely_benign 6.005e-05 synonymous_SNV exonic . 0.0002 3.585e-05 . 6 +chr14 23902753 MYH7 G A 35 0.520367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.4780 synonymous_SNV exonic . 0.4841 0.4796 0.4778 2 +chr14 73664718 PSEN1 T C 7 0.0189696 . . . . 0.0703 . intronic . 0.0523 0.0552 0.0516 2 +chr14 73664853 PSEN1 G T 42 0.671526 . MedGen:CN169374 not_specified Benign 0.5730 . intronic . 0.5613 0.5520 0.5399 2 +chr14 73673178 PSEN1 A G 2 0.00559105 2.110 Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0209 nonsynonymous_SNV exonic D 0.0187 0.0186 0.0231 3 +chr14 73673219 PSEN1 G A 1 0.00139776 . . . . 0.0002 . intronic . 0.0002 0.0002 0.0001 4 +chr14 76425702 TGFB3 T G 1 . . . . . . . intronic . . . . 8 +chr14 76432050 TGFB3 G C 1 0.00119808 . MedGen:CN169374 not_specified Likely_benign 0.0003 . intronic . 0.0003 0.0003 0.0004 4 +chr14 90863489 CALM1 G A 62 0.716054 . . . . . . UTR5 . 0.8852 . 0.8792 -2 +chr14 90863643 CALM1 TTTTGTTTGT TTTTGT 1 . . . . . . . intronic . . . . 4 +chr14 90866346 CALM1 C T 41 0.484425 . . . . . . intronic . 0.6245 . 0.6196 -2 +chr15 35083508 LOC101928174 TCACACACACACACACACACACACACACACACACACACACACACACAT TCACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACAT 41 . . . . . . . ncRNA_intronic . . . 0.1698 -2 +chr15 35084392 ACTC1 G A 1 . 6.658 . . . . nonsynonymous_SNV exonic D . . . 10 +chr15 63351840 TPM1 C A 38 0.705671 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.6546 synonymous_SNV exonic . 0.6458 0.6527 0.6548 2 +chr15 63351873 TPM1 T C 11 0.0241613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0766 synonymous_SNV exonic . 0.0713 0.0719 0.0714 2 +chr15 63354009 TPM1 G C 2 0.00898562 . MedGen:CN169374 not_specified Likely_benign 0.0139 . intronic . 0.0128 0.0136 0.0118 2 +chr15 63358032 TPM1 CTTTTTTTTTTTTTTCTCATTGTG CTTTTTTTTTTTTTCTCATTGTG 7 . . . . . . . intronic . . . 0.1093 2 +chr15 63362179 TPM1 G A 1 0.0247604 . . . . 0.0002 . UTR3 . 0.0005 0.0003 0.0001 2 +chr15 63363401 TPM1 CGT CATTTTGTTTTGT,CATTTTGT 1 0.32528 . . . . 0.2517 . UTR3 . . . 0.2721 2 +chr15 73614834 HCN4 T C 68 0.859625 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9274 synonymous_SNV exonic . 0.9344 0.9315 0.9391 -2 +chr15 73615097 HCN4 T C 1 0.0081869 -3.599 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.03 nonsynonymous_SNV exonic T 0.0126 0.0145 0.0120 -1 +chr15 73615205 HCN4 C T 1 . 4.641 . . . 8.7e-05 nonsynonymous_SNV exonic D . 7.372e-05 . 5 +chr15 73615786 HCN4 G C 1 0.00339457 0.186 Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0118 nonsynonymous_SNV exonic T 0.0132 0.0115 0.0126 -1 +chr15 73615878 HCN4 C T 4 0.0275559 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0484 synonymous_SNV exonic . 0.0488 0.0497 0.0476 -2 +chr15 73615912 HCN4 G A 1 . 3.862 MedGen:C2751083,OMIM:613123|MedGen:CN517202 Brugada_syndrome_8|not_provided Likely_benign 0.0001 nonsynonymous_SNV exonic T 0.0003 5.636e-05 6.679e-05 3 +chr15 73617804 HCN4 G T 1 0.00339457 . MedGen:CN169374 not_specified Benign 0.0099 . intronic . 0.0145 0.0111 0.0124 -2 +chr15 73621946 HCN4 G A 4 0.053115 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.0910 0.0957 0.1067 -2 +chr15 73660505 HCN4 C T 6 0.0249601 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1222 nonsynonymous_SNV exonic T 0.0508 0.0637 0.0594 -1 +chr17 8192202 SLC25A35 C G 1 0.00179712 . MedGen:CN169374 not_specified Benign 0.0005 . UTR3 . 0.0006 0.0003 0.0002 0 +chr17 8192377 RANGRF G T 1 0.00119808 9.919 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.0054 stopgain exonic . 0.0054 0.0055 0.0047 5 +chr17 8192922 na C T 5 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3 . 0.0433 0.0388 0.0423 -2 +chr17 37822311 TCAP A C 56 0.54972 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.7255 synonymous_SNV exonic . 0.7122 0.7262 0.7038 4 +chr17 39912145 JUP T A 61 0.58726 1.242 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7291 nonsynonymous_SNV exonic T 0.7391 0.7357 0.7421 3 +chr17 39913645 JUP T C 61 0.717252 . MedGen:CN169374 not_specified Benign 0.7393 . intronic . 0.7456 0.7450 0.7532 2 +chr17 39913995 JUP G A 1 0.000199681 . MedGen:CN517202 not_provided Benign 1.563e-05 synonymous_SNV exonic . . 2.747e-05 . 6 +chr17 39919361 JUP G A 1 . . MedGen:CN169374 not_specified Likely_benign 3e-05 synonymous_SNV exonic . . 8.962e-06 . 8 +chr17 39923614 JUP A G 67 0.744209 . MedGen:CN169374 not_specified Benign 0.8096 . intronic . 0.8084 0.8138 0.8146 2 +chr17 39925713 JUP C T 12 0.0239617 7.586 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0630 nonsynonymous_SNV exonic T 0.0581 0.0563 0.0671 3 +chr17 39925925 JUP A G 61 0.715655 . MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7622 synonymous_SNV exonic . 0.7552 0.7581 0.7567 2 +chr17 68172326 KCNJ2 C T 10 0.153954 . MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.1167 synonymous_SNV exonic . 0.1186 0.1172 0.1124 2 +chr18 9117867 NDUFV2 T C 58 0.778954 0.840 MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374 Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified Benign 0.8157 nonsynonymous_SNV exonic T 0.8194 0.8155 0.8134 -1 +chr18 9119489 NDUFV2 A T 6 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV exonic . 0.1129 0.1060 0.0999 -2 +chr18 28648200 DSC2 C T 6 0.0199681 . . . . 0.0538 . intronic . 0.0607 0.0592 0.0586 2 +chr18 28648975 DSC2 C T 7 0.0275559 0.324 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0540 nonsynonymous_SNV exonic T 0.0452 0.0517 0.0521 3 +chr18 28649042 DSC2 T C 2 0.196486 -1.683 MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0842 nonsynonymous_SNV exonic T 0.0837 0.0837 0.0794 3 +chr18 28666526 DSC2 TTG TTAATG 74 0.996006 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 1.0000 . intronic . 1 1.0000 1 2 +chr18 28672067 DSC2 T C 1 0.00379393 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0127 synonymous_SNV exonic . 0.0117 0.0125 0.0151 2 +chr18 28673565 DSC2 T C 8 0.123602 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1111 synonymous_SNV exonic . 0.1210 0.1129 0.1185 2 +chr18 29078304 DSG2 G T 1 . . . . . . . intronic . . . . 8 +chr18 29078333 DSG2 C G 1 0.0189696 . . . . . . intronic . . . 0.0168 2 +chr18 29101215 DSG2 CTTTTTTTTTTTTTTTAATAAATAAATAC CTTTTTTTTTTTTTTAAATAAATAAATAC,CTTTTTTTTTTTTTTAATAAATAAATAC 1 . . MedGen:CN169374 not_specified Uncertain_significance 0.3557 . intronic . . 0.3808 0.0109 2 +chr18 29104564 DSG2 C A 13 0.211462 . MedGen:CN169374 not_specified Benign 0.2552 . intronic . 0.2609 0.2574 0.2649 2 +chr18 29104698 DSG2 C T 25 0.526558 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3687 synonymous_SNV exonic . 0.3787 0.3718 0.3792 2 +chr18 29104714 DSG2 A G 9 0.0323482 3.997 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0887 nonsynonymous_SNV exonic T 0.0859 0.0869 0.0929 3 +chr18 29122618 DSG2 G A 1 0.0259585 1.194 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0739 nonsynonymous_SNV exonic T 0.0777 0.0748 0.0842 3 +chr18 29122799 DSG2 G A 13 0.240016 2.152 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2565 nonsynonymous_SNV exonic T 0.2540 0.2551 0.2602 3 +chr18 29125854 DSG2 A G 12 0.197484 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1076 synonymous_SNV exonic . 0.1076 0.1063 0.1080 2 +chr18 29126670 DSG2 T C 26 0.542931 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3705 synonymous_SNV exonic . 0.3777 0.3733 0.3807 2 +chr18 29172865 TTR G A 1 0.0233626 -0.088 .|MedGen:CN169374|MedGen:CN230736 TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype Benign 0.0709 nonsynonymous_SNV exonic T 0.0780 0.0728 0.0812 3 +chr18 29178513 TTR GTCTG CTCTG 3 0.0660942 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign 0.0353 . intronic . 0.0383 0.0363 0.0442 2 +chr18 29178610 TTR C T 1 0.000998403 6.978 .|MedGen:C2751492,OMIM:105210,SNOMED_CT:43532007,SNOMED_CT:442012008|MedGen:CN169374|MedGen:CN230736 AMYLOIDOSIS,_HEREDITARY,_TRANSTHYRETIN-RELATED,_MODIFIER_OF|Amyloidogenic_transthyretin_amyloidosis|not_specified|Cardiovascular_phenotype Benign/Likely_benign,_risk_factor 0.0025 nonsynonymous_SNV exonic D 0.0028 0.0029 0.0019 6 +chr18 32335915 DTNA A G 4 0.0479233 . MedGen:CN169374 not_specified Benign 0.0835 . intronic . 0.0780 0.0825 0.0878 2 +chr18 32400909 DTNA ACA AA 5 0.114617 . . . . 0.1093 . intronic . 0.1147 0.1120 0.1290 2 +chr18 32418186 DTNA T A 16 0.204073 . . . . 0.2563 . intronic . 0.2615 0.2592 0.2637 2 +chr18 32428317 DTNA G A 1 . . MedGen:C1858725,OMIM:604169|MedGen:CN169374 Left_ventricular_noncompaction_1|not_specified Likely_benign 0.0005 synonymous_SNV exonic . 0.0005 0.0003 0.0003 4 +chr18 32444040 DTNA G A 19 0.29373 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374 Left_ventricular_noncompaction_cardiomyopathy|not_specified Benign 0.3944 . intronic . 0.3304 0.3339 0.3532 2 +chr18 32455379 DTNA T C 3 0.128195 . MedGen:CN169374 not_specified Benign 0.1218 . intronic . 0.1264 0.1216 0.1417 2 +chr18 32459615 DTNA G A 1 . . MedGen:CN169374 not_specified Likely_benign 0 synonymous_SNV exonic . . 8.953e-06 0 8 +chr18 32470291 DTNA G A 24 0.266973 2.442 MedGen:CN169374 not_specified Benign 0.2485 nonsynonymous_SNV exonic . . 0.2083 0.1994 3 +chr19 16590094 CALR3 A G 1 0.00299521 . MedGen:C3151266,OMIM:613875|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign 0.0005 . intronic . 0.0003 5.373e-05 6.684e-05 4.625 +chr19 16591464 CALR3 G A 55 0.650559 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7109 synonymous_SNV exonic . 0.7043 0.7065 0.7044 3.625 +chr19 16593415 CALR3 G A 55 0.660144 . . . . 0.7113 . intronic . 0.7048 0.7067 0.7043 3 +chr19 16593573 CALR3 G A 12 0.144569 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.1648 synonymous_SNV exonic . 0.1692 0.1645 0.1682 2.625 +chr19 16601168 CALR3 G A 11 0.114018 . MedGen:C3151266,OMIM:613875|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign 0.1362 . intronic . 0.1415 0.1389 0.1474 2.625 +chr19 16601194 CALR3 C T 55 0.658946 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7102 synonymous_SNV exonic . 0.7038 0.7052 0.7030 2.625 +chr19 35524824 SCN1B T C 39 0.377596 -0.608 MedGen:CN169374 not_specified Benign 0.4522 nonsynonymous_SNV exonic T 0.3721 0.3838 0.3918 -1 +chr19 35524939 SCN1B C A 17 0.127396 3.869 MedGen:CN169374 not_specified Benign 0.1818 nonsynonymous_SNV exonic T 0.1455 0.1515 0.1693 -1 +chr19 35524944 SCN1B G C 17 0.119209 1.238 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.1828 nonsynonymous_SNV exonic T 0.1454 0.1515 0.1690 -1 +chr19 35530073 SCN1B T C 7 0.0155751 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0311 synonymous_SNV exonic . 0.0321 0.0315 0.0290 -2 +chr19 35530514 SCN1B T G 5 0.0081869 . . . . 0.0144 . intronic . 0.015 0.0144 0.0155 -2 +chr19 35530525 SCN1B C A 5 0.00798722 . MedGen:CN169374 not_specified Benign 0.0145 . intronic . 0.0151 0.0145 0.0156 -2 +chr19 35530641 SCN1B G A 1 0.000399361 . . . . 0.0052 . intronic . 0.0041 0.0037 0.0021 0 +chr19 47109176 CALM3 A G 3 . . . . . . . intronic . 0.0016 . 0.0016 0 +chr19 47111591 CALM3 G T 1 . 3.363 . . . . nonsynonymous_SNV exonic D . . . 5 +chr19 47112261 CALM3 C G 1 . . . . . . . intronic . . 0 . 4 +chr19 47112357 CALM3 CCTCTCTCTCTG CCTCTCTCTG 1 0.00599042 . MedGen:CN169374 not_specified Likely_benign 0.0179 . intronic . 0.0251 0.0189 0.0224 -2 +chr19 47258842 FKRP C T 13 0.15016 . MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374 Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|Congenital_muscular_dystrophy-dystroglycanopathy_(with_or_without_mental_retardation)_type_B5|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies_type_A5|not_specified Benign 0.1651 synonymous_SNV exonic . 0.1418 0.1404 0.1368 4 +chr19 47259117 FKRP C A 1 . -1.212 . . . . nonsynonymous_SNV exonic D . . . 9 +chr19 47259134 FKRP C A 2 0.00259585 1.067 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0173 nonsynonymous_SNV exonic D 0.0049 0.0068 0.0049 3 +chr19 47259135 FKRP G A 1 . 0.418 . . . . nonsynonymous_SNV exonic D . 0 . 9 +chr19 47259469 FKRP C A 1 . . . . . . synonymous_SNV exonic . . . . 8 +chr19 49661071 TRPM4 C A 2 . . . . . . . UTR5 . . . . 8 +chr19 49661112 TRPM4 G A 15 0.150359 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.3171 . UTR5 . . 0.2925 0.2875 2 +chr19 49661439 TRPM4 C T 1 . . MedGen:CN169374 not_specified Likely_benign 8.999e-05 . intronic . 0.0002 0.0001 . 6 +chr19 49661547 TRPM4 A G 15 0.223642 . . . . 0.1388 . intronic . 0.1345 0.1361 0.1317 2 +chr19 49661582 TRPM4 T C 59 0.599441 . . . . . . intronic . 0.8564 . 0.8580 2 +chr19 49671281 TRPM4 G A 5 0.0910543 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0500 synonymous_SNV exonic . 0.0423 0.0456 0.0403 2 +chr19 49671503 TRPM4 C T 1 0.00938498 . MedGen:CN169374 not_specified Benign 0.0001 . intronic . 0.0005 9.857e-05 0.0002 4 +chr19 49674841 TRPM4 G A 1 . 2.465 . . . 0.0001 nonsynonymous_SNV exonic T . 7.196e-05 . 9 +chr19 49675017 TRPM4 G T 5 0.0597045 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0455 synonymous_SNV exonic . 0.0372 0.0418 0.0381 2 +chr19 49675233 TRPM4 C T 5 0.0914537 . . . . 0.0488 . intronic . 0.0421 0.0454 0.0403 2 +chr19 49684586 TRPM4 T A 1 0.0145767 . MedGen:CN169374 not_specified Benign 0.0576 . intronic . 0.0581 0.0601 0.0640 3 +chr19 49692023 TRPM4 C T 1 . . . . . . synonymous_SNV exonic . . 8.957e-06 . 8 +chr19 49693461 TRPM4 A C 1 . . MedGen:CN169374 not_specified Likely_benign 0.0001 . intronic . 0.0001 8.959e-05 0 8 +chr19 49699866 TRPM4 C T 4 0.11242 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0910 synonymous_SNV exonic . 0.0411 0.0515 0.0461 2 +chr19 49703651 TRPM4 A T 1 0.000399361 16.146 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN239424|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_specified|TRPM4-Related_Disorders|not_provided Conflicting_interpretations_of_pathogenicity 0.0022 stopgain exonic . 0.0019 0.0020 0.0017 9 +chr19 49714439 TRPM4 G A 1 . 1.618 . . . 7.334e-05 nonsynonymous_SNV exonic T . 3.956e-05 . 9 +chr19 49714732 TRPM4 C G 2 0.0203674 . MedGen:CN169374 not_specified Benign 0.0039 . intronic . 0.0027 0.0037 0.0029 2 +chr19 55665410 TNNI3 C T 6 0.0477236 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0718 unknown exonic . 0.0658 0.0710 0.0649 2 +chr19 55665584 TNNI3 A C 74 1 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479 Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive Benign/Likely_benign 1 . intronic . . 1 1 3.25 +chr19 55667647 TNNI3 C A 1 0.0227636 2.843 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0649 unknown exonic . 0.0505 0.0567 0.0546 2 +chr19 55668397 TNNI3 C T 6 0.0477236 . MedGen:CN169374 not_specified Benign 0.1201 . intronic . 0.0622 0.0708 0.0655 2 +chr19 55668509 TNNI3 A T 16 0.458067 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.2431 . intronic . 0.1948 0.2053 0.1976 3.25 +chr19 55669004 TNNI3 G A 1 0.00259585 . MedGen:CN169374 not_specified Likely_benign 0.0113 . UTR5 . 0.0094 0.0105 0.0086 2 +chr2 47387986 CALM2 GACCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC GACCAAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 1 . . . . . 0.0770 . intronic\x3bintronic . . . . -2 +chr2 47387988 CALM2 CCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CCAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 1 . . . . . . . intronic . . . . 4 +chr2 47387989 CALM2 CAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 1 . . . . . 0.0086 . intronic . . . . 0 +chr2 105977761 FHL2 G A 4 0.111422 . MedGen:CN169374 not_specified Benign 0.1934 synonymous_SNV exonic . 0.1959 0.1935 0.1913 2 +chr2 105977776 FHL2 G A 3 0.0517173 . MedGen:CN169374 not_specified Benign 0.1184 synonymous_SNV exonic . 0.1270 0.1223 0.1172 2 +chr2 105977903 FHL2 G C 5 0.305511 . MedGen:CN169374 not_specified Benign 0.1310 . intronic . 0.1364 0.1332 0.1422 2 +chr2 105979730 FHL2 C A 11 0.277356 . MedGen:CN169374 not_specified Benign 0.3779 . intronic . 0.3766 0.3798 0.3795 3 +chr2 105979752 FHL2 G A 1 0.00459265 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign 0.0075 synonymous_SNV exonic . 0.0126 0.0098 0.0103 2.625 +chr2 105979872 FHL2 G A 1 . 1.339 . . . . synonymous_SNV exonic T . . . 8 +chr2 179393111 TTN A G 2 0.0920527 0.471 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0216 nonsynonymous_SNV exonic T 0.0207 0.0205 0.0187 4.25 +chr2 179395067 TTN C G 3 0.0509185 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0878 synonymous_SNV exonic . 0.0874 0.0890 0.0873 2 +chr2 179395560 TTN G A 2 0.0792732 3.557 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 nonsynonymous_SNV exonic T 0.0208 0.0205 0.0186 4.25 +chr2 179395760 TTN G A 2 0.091254 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 synonymous_SNV exonic . 0.0205 0.0206 0.0189 3.25 +chr2 179395958 TTN T C 8 0.508187 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2314 synonymous_SNV exonic . 0.2231 0.2261 0.2310 2 +chr2 179396162 TTN C G 1 0.0229633 2.686 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0418 nonsynonymous_SNV exonic T 0.0436 0.0438 0.0486 4.25 +chr2 179396354 TTN G A 6 0.231829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1451 0.1444 0.1547 2 +chr2 179397150 TTN T C 1 . 2.595 MedGen:CN169374 not_specified Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 . 9 +chr2 179397561 TTN C T 6 0.208666 4.497 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1455 nonsynonymous_SNV exonic T 0.1442 0.1441 0.1542 3 +chr2 179398509 TTN C A 2 0.0780751 3.098 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0212 nonsynonymous_SNV exonic T 0.0198 0.0202 0.0185 4.25 +chr2 179398823 TTN G A 6 0.232029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1465 0.1447 0.1549 2 +chr2 179399576 TTN C G 3 0.00459265 1.720 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0099 nonsynonymous_SNV exonic T 0.0104 0.0110 0.0099 5.5 +chr2 179400585 na GAAAAAAAAAAAAAAAGAATATAATTTAG GAAAAAAAAAAAAAAGAATATAATTTAG 9 . . Human_Phenotype_Ontology:HP: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 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 Uncertain_significance 0.3015 . ncRNA_intronic . . 0.2739 0.0047 -2 +chr2 179400895 TTN C T 1 0.0654952 3.526 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0182 nonsynonymous_SNV exonic T 0.0174 0.0179 0.0169 4.25 +chr2 179401311 na CAAAAAAAAGATT CAAAAAAAAAGATT 1 0.00359425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0066 . ncRNA_intronic . 0.0072 0.0063 0.0094 2.5 +chr2 179401870 TTN C A 1 . 3.357 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 0 nonsynonymous_SNV exonic T . 3.604e-05 . 9 +chr2 179404402 TTN T C 2 0.00399361 1.106 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0067 nonsynonymous_SNV exonic T 0.0081 0.0071 0.0057 6.25 +chr2 179404628 TTN T A 1 0.0425319 2.893 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0177 nonsynonymous_SNV exonic T 0.0170 0.0177 0.0167 4.25 +chr2 179404786 na A T 6 0.232628 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1471 . ncRNA_intronic . 0.1464 0.1443 0.1551 -2 +chr2 179406003 na C A 8 0.504593 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2610 . ncRNA_intronic . 0.2102 0.2152 0.2295 -2 +chr2 179406191 TTN C T 6 0.209265 5.326 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1472 nonsynonymous_SNV exonic T 0.1453 0.1439 0.1545 3 +chr2 179410548 TTN G T 1 . 3.591 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 9.027e-05 nonsynonymous_SNV exonic T . 7.223e-05 . 14 +chr2 179410704 TTN G A 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0117 synonymous_SNV exonic . 0.0108 0.0119 0.0105 4.5 +chr2 179412442 TTN A G 1 . 1.832 . . . . nonsynonymous_SNV exonic T . . . 9 +chr2 179412772 TTN T C 1 0.000199681 1.276 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic T . 2.694e-05 0 7 +chr2 179412966 TTN G A 1 0.00898562 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0316 synonymous_SNV exonic . 0.0284 0.0312 0.0311 3.25 +chr2 179413110 TTN G A 6 0.234225 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1470 synonymous_SNV exonic . 0.1460 0.1448 0.1548 2 +chr2 179413452 TTN G A 1 0.0121805 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0280 synonymous_SNV exonic . 0.0315 0.0294 0.0241 4.5 +chr2 179421694 TTN A G 9 0.507188 -0.530 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2298 nonsynonymous_SNV exonic T 0.2206 0.2240 0.2291 3 +chr2 179423099 TTN A G 1 0.0223642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0257 synonymous_SNV exonic . 0.0208 0.0233 0.0236 3.25 +chr2 179424600 TTN T C 1 . . Human_Phenotype_Ontology:HP: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 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 Uncertain_significance . synonymous_SNV exonic . . . . 8 +chr2 179427186 TTN A G 9 0.508786 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2312 synonymous_SNV exonic . 0.2228 0.2252 0.2311 2 +chr2 179427536 TTN T C 9 0.508387 0.936 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2335 nonsynonymous_SNV exonic T 0.2229 0.2261 0.2309 3 +chr2 179429004 TTN G A 1 0.0221645 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0250 synonymous_SNV exonic . 0.0206 0.0232 0.0235 3.25 +chr2 179430060 TTN G T 1 0.0221645 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0250 synonymous_SNV exonic . 0.0206 0.0232 0.0235 3.25 +chr2 179430997 TTN G A 8 0.342252 2.294 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1691 nonsynonymous_SNV exonic T 0.1669 0.1655 0.1745 3 +chr2 179431594 TTN A G 1 0.0223642 1.803 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0252 nonsynonymous_SNV exonic T 0.0207 0.0234 0.0236 4.25 +chr2 179431797 TTN A T 2 0.0926518 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 synonymous_SNV exonic . 0.0208 0.0209 0.0197 3.25 +chr2 179432185 TTN A G 8 0.129992 3.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3013 nonsynonymous_SNV exonic T 0.3030 0.3052 0.3241 3 +chr2 179433221 TTN T C 1 0.0223642 0.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0209 0.0234 0.0236 4.25 +chr2 179433580 TTN T C 1 0.0223642 0.998 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0206 0.0233 0.0235 4.25 +chr2 179434139 TTN A G 1 0.0223642 1.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0207 0.0234 0.0235 4.25 +chr2 179434516 TTN C T 2 0.0792732 2.413 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 nonsynonymous_SNV exonic T 0.0202 0.0208 0.0193 4.25 +chr2 179436020 TTN G A 6 0.208067 3.394 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1448 nonsynonymous_SNV exonic T 0.1442 0.1436 0.1528 3 +chr2 179440029 TTN G A 8 0.146565 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2979 synonymous_SNV exonic . 0.2975 0.3020 0.3216 2 +chr2 179441295 TTN T C 1 0.00299521 1.439 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0095 nonsynonymous_SNV exonic D 0.0092 0.0085 0.0074 5.625 +chr2 179441947 TTN C T 1 . 3.130 . . . . nonsynonymous_SNV exonic D . . . 9 +chr2 179442546 TTN A G 1 . . . . . 7.564e-05 synonymous_SNV exonic . . 6.365e-05 . 8 +chr2 179444137 na A G 8 0.347444 . MedGen:CN169374 not_specified Benign 0.1730 . ncRNA_intronic . 0.1688 0.1675 0.1758 -2 +chr2 179444289 TTN A G 1 0.0283546 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0269 synonymous_SNV exonic . 0.0225 0.0251 0.0254 3.25 +chr2 179444768 TTN C G 26 0.994609 -0.011 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 nonsynonymous_SNV exonic T 0.9999 0.9997 0.9999 3 +chr2 179444939 TTN C T 8 0.351238 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1776 nonsynonymous_SNV exonic T 0.1769 0.1739 0.1805 3 +chr2 179447848 TTN T C 9 0.513778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2377 synonymous_SNV exonic . 0.2244 0.2271 0.2316 2 +chr2 179448315 na A C 1 0.0391374 . MedGen:CN169374 not_specified Benign 0.0375 . ncRNA_exonic . 0.0227 0.0248 0.0255 -2 +chr2 179449131 TTN G A 1 0.0107827 3.355 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0374 nonsynonymous_SNV exonic T 0.0426 0.0398 0.0350 4.25 +chr2 179449186 TTN G A 1 0.0129792 4.103 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic T 0.0028 0.0026 0.0016 4.25 +chr2 179451420 TTN G A 7 0.507588 3.015 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2301 nonsynonymous_SNV exonic T 0.2197 0.2241 0.2281 3 +chr2 179451906 TTN G A 1 0.0131789 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0060 synonymous_SNV exonic . 0.0053 0.0058 0.0059 3.25 +chr2 179454394 TTN A G 7 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2326 synonymous_SNV exonic . 0.2249 0.2270 0.2314 2 +chr2 179455207 TTN T C 7 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2330 synonymous_SNV exonic . 0.2242 0.2269 0.2315 2 +chr2 179455631 TTN G A 1 0.00299521 2.221 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0022 nonsynonymous_SNV exonic D 0.0012 0.0014 0.0007 7.5 +chr2 179457147 TTN G A 5 0.213059 2.159 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1473 0.1444 0.1539 3 +chr2 179457856 na AAGTTA AA 1 . . . . . . . ncRNA_intronic . . . . 4 +chr2 179458591 TTN C T 5 0.21246 4.706 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1465 nonsynonymous_SNV exonic T 0.1473 0.1453 0.1540 3 +chr2 179462494 TTN A G 8 0.126997 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3002 synonymous_SNV exonic . 0.3001 0.3054 0.3235 2 +chr2 179463991 TTN C T 1 0.00359425 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0122 synonymous_SNV exonic . 0.0110 0.0122 0.0107 3.25 +chr2 179464527 TTN T C 7 0.51278 2.157 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2340 nonsynonymous_SNV exonic T 0.2261 0.2276 0.2319 3 +chr2 179466017 TTN C T 1 . . . . . 1.555e-05 synonymous_SNV exonic . . 9.731e-06 . 8 +chr2 179469697 na G C 1 . . MedGen:CN169374 not_specified Likely_benign 3.062e-05 . ncRNA_exonic . . 2.882e-05 . 4 +chr2 179472223 TTN A G 1 0.00459265 2.046 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0166 nonsynonymous_SNV exonic D 0.0143 0.0139 0.0149 4.25 +chr2 179472825 na T C 1 0.0107827 . MedGen:CN169374 not_specified Benign 0.0247 . ncRNA_intronic . 0.0226 0.0225 0.0215 -2 +chr2 179472908 TTN T C 1 . 0.954 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0003 7 +chr2 179474668 TTN G A 1 0.0726837 3.431 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 nonsynonymous_SNV exonic T 0.0131 0.0126 0.0117 4.25 +chr2 179476243 TTN G A 1 . 3.937 . . . 4.508e-05 nonsynonymous_SNV exonic T . 3.636e-05 . 9 +chr2 179477267 TTN T G 1 0.00638978 1.693 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0235 nonsynonymous_SNV exonic T 0.0198 0.0211 0.0208 4.25 +chr2 179477717 TTN A G 1 0.0736821 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0130 0.0126 0.0117 3.25 +chr2 179479245 TTN C T 1 0.072484 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0127 0.0126 0.0117 3.25 +chr2 179481370 na G A 1 . . . . . . . ncRNA_intronic . . . . 4 +chr2 179482089 TTN C T 1 0.00299521 4.000 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0146 nonsynonymous_SNV exonic T 0.0088 0.0075 0.0069 5.5 +chr2 179486478 MIR548N T C 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0122 . ncRNA_intronic . 0.0109 0.0122 0.0107 0.5 +chr2 179497025 TTN A G 1 0.0395367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0036 0.0034 0.0043 3.25 +chr2 179497133 TTN C T 1 0.00698882 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0346 synonymous_SNV exonic . 0.0290 0.0300 0.0430 3.25 +chr2 179498042 TTN T C 1 0.0509185 2.465 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1043 nonsynonymous_SNV exonic T 0.1098 0.1075 0.1110 3 +chr2 179505367 MIR548N AAGATTA AA 1 . . . . . . . ncRNA_intronic . . . . 4 +chr2 179515483 TTN G C 1 0.0393371 0.743 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0093 nonsynonymous_SNV exonic T 0.0034 0.0034 0.0043 4.25 +chr2 179516580 MIR548N G C 1 0.00838658 . . . . 0.0298 . ncRNA_intronic . 0.0231 0.0211 0.0218 -2 +chr2 179516680 TTN C G 1 . 2.264 . . . . nonsynonymous_SNV exonic T . . . 9 +chr2 179517019 TTN A T 1 0.00279553 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0119 synonymous_SNV exonic . 0.0110 0.0121 0.0107 4.5 +chr2 179517223 TTN G A 1 . 0.259 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 . 9 +chr2 179528038 TTN A C 2 . -1.764 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0084 nonsynonymous_SNV exonic T . 0.0449 0.1261 5.5 +chr2 179528068 TTN C A 1 0.057508 1.906 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0062 nonsynonymous_SNV exonic T 0.0045 0.0042 0.0047 3.625 +chr2 179539903 MIR548N C A 6 0.471246 . . . . . . ncRNA_intronic . 0.2126 . 0.2194 -1 +chr2 179541899 TTN C G 2 0.773363 . . . . 0.7155 . intronic . . 0.7180 0.7498 2 +chr2 179543217 TTN C T 6 0.238419 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2297 synonymous_SNV exonic . 0.1604 0.1558 0.1636 3 +chr2 179544685 TTN CTCTTCTTCTTCTTCTA CTCTTCTTCTTCTTCTTCTA 1 0.00459265 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:C2751898,OMIM:603829|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|Paroxysmal_familial_ventricular_fibrillation_1|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0162 nonframeshift_insertion exonic . 0.0168 0.0181 0.0173 4.5 +chr2 179545859 TTN C T 8 0.125998 2.302 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3005 nonsynonymous_SNV exonic T 0.3031 0.3030 0.3243 3 +chr2 179547455 TTN T C 1 0.00459265 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0081 synonymous_SNV exonic . 0.0086 0.0090 0.0085 5.25 +chr2 179548694 TTN GATTTTTTTTTTTTTTTTAAGAG GATTTTTTTTTTTTTTTAAGAG 1 . . . . . 0.4608 . intronic\x3bintronic . . 0.4476 0.1442 2 +chr2 179548695 TTN ATTTTTTTTTTTTTTTTAAGAG ATTTTTTTTTTTTTTTAAGAG,ATTTTTTTTTTTTTTTTTAAGAG 1 . . . . . 0.0310 . intronic . . 0.0385 0.0061 2 +chr2 179549048 TTN C T 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0124 . intronic . 0.0111 0.0121 0.0107 2.625 +chr2 179554002 TTN A C 1 . . Human_Phenotype_Ontology:HP: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 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 Uncertain_significance . . intronic . . . . 8 +chr2 179554305 TTN C T 8 0.413339 4.097 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3697 nonsynonymous_SNV exonic T 0.3605 0.3561 0.3821 3 +chr2 179558366 TTN T C 6 0.477835 1.533 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2457 nonsynonymous_SNV exonic T 0.2286 0.2271 0.2289 3 +chr2 179563643 TTN TAAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG TAAAAAAAAAAAAAAGAAAAAAAAAGAAAAAATATTTCTG 1 . . Human_Phenotype_Ontology:HP: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 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 Uncertain_significance 0.3114 . intronic . . 0.3336 0.0173 2 +chr2 179567398 TTN A C 1 0.00339457 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0023 . intronic . 0.0012 0.0014 0.0009 6.5 +chr2 179571423 TTN G T 1 0.0101837 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0033 synonymous_SNV exonic . 0.0026 0.0031 0.0032 3.25 +chr2 179575511 TTN C T 1 0.0273562 3.915 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0518 nonsynonymous_SNV exonic T 0.0570 0.0552 0.0558 4.25 +chr2 179578108 TTN TACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT TACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT,AACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT 1 . . . . . . . intronic . . . . 8 +chr2 179578730 TTN G A 4 0.444688 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2023 synonymous_SNV exonic . 0.2012 0.2022 0.2036 2 +chr2 179579093 TTN T C 4 0.247005 -0.712 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1458 nonsynonymous_SNV exonic T 0.1506 0.1501 0.1514 4 +chr2 179579212 TTN T C 4 0.483427 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2041 synonymous_SNV exonic . 0.2019 0.2031 0.2030 3 +chr2 179579786 TTN G A 1 . . . . . . synonymous_SNV exonic . . . . 8 +chr2 179579822 TTN T A 4 0.444489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2020 synonymous_SNV exonic . 0.2005 0.2025 0.2030 3 +chr2 179582327 TTN C T 4 0.24381 1.700 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1508 0.1496 0.1515 4 +chr2 179582537 TTN G T 4 0.444888 2.566 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2037 nonsynonymous_SNV exonic T 0.2018 0.2023 0.2029 4 +chr2 179583317 TTN G A 1 0.0734824 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1051 synonymous_SNV exonic . 0.1101 0.1091 0.1114 2 +chr2 179583496 TTN T G 4 0.238818 0.820 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1454 nonsynonymous_SNV exonic T 0.1517 0.1501 0.1519 3 +chr2 179585257 TTN G C 1 0.00499201 1.967 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0025 nonsynonymous_SNV exonic T 0.0021 0.0021 0.0016 6.25 +chr2 179585266 TTN C T 26 0.982029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 2 +chr2 179585393 TTN A G 4 0.460064 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2124 . intronic . 0.1985 0.2036 0.2028 3 +chr2 179587130 TTN C G 4 0.247005 2.840 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1457 nonsynonymous_SNV exonic T 0.1523 0.1500 0.1519 4 +chr2 179589058 TTN G A 1 0.0357428 2.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0040 nonsynonymous_SNV exonic T 0.0031 0.0029 0.0041 4.25 +chr2 179593270 TTN A G 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0115 synonymous_SNV exonic . 0.0104 0.0114 0.0101 4.5 +chr2 179593352 TTN C T 1 0.0932508 1.515 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0275 nonsynonymous_SNV exonic T 0.0246 0.0266 0.0253 3 +chr2 179593503 TTN G T 1 0.00159744 0.886 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Benign/Likely_benign 0.0032 nonsynonymous_SNV exonic T 0.0022 0.0029 0.0032 6.25 +chr2 179595117 TTN C G 4 0.348043 . MedGen:CN169374 not_specified Benign 0.1836 . intronic . 0.1789 0.1770 0.1788 3 +chr2 179595372 TTN T C 1 0.00219649 1.928 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0112 nonsynonymous_SNV exonic T 0.0104 0.0115 0.0101 5.5 +chr2 179597007 TTN T C 1 . . . . . . synonymous_SNV exonic . . . . 8 +chr2 179598139 TTN C A 1 . 3.544 . . . . nonsynonymous_SNV exonic D . . . 9 +chr2 179598228 TTN A G 3 0.0295527 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0786 synonymous_SNV exonic . 0.0792 0.0797 0.0776 2 +chr2 179600563 TTN G A 26 0.981829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 2 +chr2 179605180 TTN C T 4 0.238818 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1283 synonymous_SNV exonic . 0.1283 0.1301 0.1324 3 +chr2 179605725 TTN T C 2 0.0161741 -1.264 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0184 nonsynonymous_SNV exonic T 0.0185 0.0195 0.0161 3.625 +chr2 179606538 TTN G A 1 0.273163 1.979 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0854 nonsynonymous_SNV exonic T 0.0732 0.0740 0.0723 3 +chr2 179612373 TTN A C 1 0.00579073 . MedGen:CN169374 not_specified Benign 0.0032 synonymous_SNV exonic . 0.0037 0.0032 0.0023 4 +chr2 179612383 TTN C T 1 0.0145767 1.322 MedGen:CN169374 not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0582 0.0580 0.0492 3 +chr2 179613179 TTN G A 1 0.00119808 0.117 MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:CN169374|MedGen:CN517202 Distal_myopathy_Markesbery-Griggs_type|not_specified|not_provided Likely_benign 0.0032 nonsynonymous_SNV exonic T 0.0043 0.0034 0.0045 5 +chr2 179613191 TTN T C 1 0.00259585 0.041 MedGen:CN169374 not_specified Benign 0.0107 nonsynonymous_SNV exonic T 0.0093 0.0085 0.0068 3 +chr2 179614952 TTN A G 26 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 2 +chr2 179615887 TTN T C 25 0.733027 0.654 MedGen:CN169374 not_specified Benign 0.9251 nonsynonymous_SNV exonic T 0.9303 0.9291 0.9301 3 +chr2 179615931 TTN C G 26 0.97504 0.163 MedGen:CN169374 not_specified Benign 0.9997 nonsynonymous_SNV exonic T 0.9992 0.9998 0.9999 3 +chr2 179615994 TTN T C 26 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9998 2 +chr2 179616770 TTN GAAAAAAAAAAAAAAACCTTT GAAAAAAAAAAAAAACCTTT,GAAAAAAAAAAAAACCTTT 26 0.120008 . MedGen:CN169374 not_specified Likely_benign 0.2294 . intronic . . 0.1667 0.1230 2 +chr2 179620951 TTN C T 25 0.804513 3.252 MedGen:CN169374 not_specified Benign 0.9274 nonsynonymous_SNV exonic T 0.9321 0.9303 0.9314 3 +chr2 179621477 TTN C T 26 0.999002 . MedGen:CN169374 not_specified Benign/Likely_benign 1 nonsynonymous_SNV exonic . 1 1.0000 1 3 +chr2 179623758 TTN C T 25 0.808906 1.814 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9274 nonsynonymous_SNV exonic T 0.9324 0.9303 0.9313 3 +chr2 179629363 TTN T C 26 0.973642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 2 +chr2 179629461 TTN C T 25 0.804912 2.855 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9273 nonsynonymous_SNV exonic T 0.9322 0.9303 0.9314 3 +chr2 179631214 TTN T C 1 0.167732 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0720 synonymous_SNV exonic . 0.0667 0.0690 0.0684 2 +chr2 179632496 TTN T C 1 0.0860623 1.376 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 nonsynonymous_SNV exonic T 0.0212 0.0233 0.0225 3 +chr2 179632710 TTN T C 21 0.503994 . . . . 0.7975 . intronic . 0.7988 0.7994 0.7977 2 +chr2 179633644 TTN G C 1 0.0866613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 synonymous_SNV exonic . 0.0215 0.0233 0.0225 2 +chr2 179634392 TTN A T 4 0.00179712 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0013 . intronic . . 0.0212 0.0009 2 +chr2 179634839 TTN T C 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Likely_benign 0.0005 synonymous_SNV exonic . 0.0003 0.0002 0.0001 5.25 +chr2 179635919 TTN C T 2 0.0155751 . MedGen:CN169374 not_specified Benign 0.0360 . intronic . 0.0377 0.0369 0.0349 2 +chr2 179638238 TTN G A 1 0.0754792 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1080 synonymous_SNV exonic . 0.1147 0.1125 0.1134 2 +chr2 179638314 TTN CGGT CGC 1 . . . . . . frameshift_substitution exonic . . . . 8 +chr2 179638721 TTN C T 1 0.0874601 2.444 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0248 nonsynonymous_SNV exonic T 0.0221 0.0234 0.0225 3 +chr2 179641009 TTN C T 1 . 3.119 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0002 6.666e-05 7 +chr2 179642425 LOC101927055 G A 25 0.911542 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9890 . ncRNA_exonic . 0.9914 0.9898 0.9889 -2 +chr2 179644035 TTN G A 25 0.920128 2.581 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9890 nonsynonymous_SNV exonic T 0.9914 0.9898 0.9889 3 +chr2 179644855 TTN T C 23 0.5002 2.524 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.8655 nonsynonymous_SNV exonic T 0.8702 0.8685 0.8651 3 +chr2 179650408 TTN G A 7 0.100439 2.681 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2383 nonsynonymous_SNV exonic T 0.2345 0.2369 0.2096 3 +chr2 179650443 TTN C T 1 . . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Likely_benign 0 synonymous_SNV exonic . . 1.793e-05 6.661e-05 9.25 +chr2 179650701 TTN C T 12 0.204673 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.4010 synonymous_SNV exonic . 0.4057 0.4034 0.4251 2 +chr2 179659108 TTN T C 1 0.00119808 . MedGen:CN169374 not_specified Benign 0.0031 . intronic . 0.0021 0.0029 0.0032 4 +chr2 179659294 TTN C T 1 0.000998403 . MedGen:CN169374 not_specified Benign 0.0012 . intronic . 0.0014 0.0011 0.0005 4 +chr2 179659912 TTN G A 1 0.236022 2.207 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0508 nonsynonymous_SNV exonic T 0.0531 0.0513 0.0551 3 +chr2 179669244 TTN GAAAAAAAAACAAAAGTG GAAAAAAAAAACAAAAGTG 1 0.00419329 . . . . 0.0057 . intronic . 0.0045 0.0018 0.0002 4 +chr2 220283259 DES A G 24 0.886182 . 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 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9889 synonymous_SNV exonic . 0.9877 0.9886 0.9896 3 +chr2 220283277 DES T C 24 0.866014 . 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 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9886 synonymous_SNV exonic . 0.9880 0.9882 0.9892 3 +chr2 220283338 DES C A 1 . 3.332 MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype Uncertain_significance . nonsynonymous_SNV exonic T . . . 9 +chr2 220283592 DES C T 1 0.0123802 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0753 synonymous_SNV exonic . 0.0352 0.0384 0.0435 2 +chr2 220284779 DES C T 13 0.529353 . MedGen:CN169374 not_specified Benign 0.6272 . intronic . 0.6303 0.6307 0.6482 2 +chr2 220285309 DES C T 13 0.33746 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3555 0.3562 0.3400 2 +chr2 220285375 DES G A 1 . . MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374 Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified Likely_benign 6.027e-05 synonymous_SNV exonic . . 6.276e-05 . 8 +chr2 220285666 DES G C 13 0.33766 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3631 synonymous_SNV exonic . 0.3551 0.3551 0.3399 2 +chr2 220286142 DES G A 13 0.333666 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3552 0.3567 0.3410 2 +chr20 30408306 MYLK2 C G 1 0.00838658 4.119 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0194 nonsynonymous_SNV exonic T 0.0202 0.0212 0.0203 1.5 +chr20 30409452 MYLK2 T C 10 0.0720847 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0791 synonymous_SNV exonic . 0.0802 0.0781 0.0654 -2 +chr20 30414528 MYLK2 G A 1 0.00958466 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0300 . intronic . 0.0265 0.0281 0.0257 -2 +chr20 30414560 MYLK2 C G 10 0.0720847 . . . . 0.0789 . intronic . 0.08 0.0782 0.0654 -2 +chr20 30414578 MYLK2 G A 4 0.0201677 . . . . 0.0432 . intronic . 0.0469 0.0444 0.0400 -2 +chr20 30414621 MYLK2 C T 3 0.0081869 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign/Likely_benign 0.0230 synonymous_SNV exonic . 0.0216 0.0244 0.0287 -0.75 +chr20 30419834 MYLK2 C T 1 . . . . . 1.981e-05 synonymous_SNV exonic . . 9.568e-06 0 4 +chr20 30419954 MYLK2 A G 10 0.0722843 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0912 . intronic . 0.0755 0.0747 0.0637 -2 +chr20 31996708 SNTA1 A G 1 . . . . . 7.575e-05 . intronic . 0.0002 9.92e-05 . 2 +chr20 32031112 SNTA1 C A 1 . . . . . . . intronic . . . . 4 +chr20 32031206 SNTA1 G A 1 0.000599042 1.143 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0029 nonsynonymous_SNV exonic T . 0.0042 0.0038 1 +chr20 32031208 SNTA1 C A 2 . . . . . . synonymous_SNV exonic . . . . 4 +chr20 42743454 JPH2 A G 18 0.257388 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.3485 synonymous_SNV exonic . 0.3065 0.2967 0.3031 2.625 +chr20 42744587 JPH2 G C 11 0.152955 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.2759 synonymous_SNV exonic . 0.1887 0.2230 0.2293 2.625 +chr20 42744802 JPH2 C T 2 0.0153754 0.202 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0368 nonsynonymous_SNV exonic T 0.004 0.0050 0.0081 3.625 +chr20 42744945 JPH2 G A 1 . -0.233 . . . . nonsynonymous_SNV exonic T . . . 9 +chr20 42745033 JPH2 G A 1 0.00738818 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign 0.0269 . intronic . . 0.0308 0.0320 2.625 +chr20 42747247 JPH2 C T 16 0.270367 5.490 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.1362 nonsynonymous_SNV exonic T 0.1290 0.1342 0.1291 3.625 +chr20 42747254 JPH2 G A 4 0.048722 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.1027 0.0951 0.1001 2.625 +chr20 42814955 JPH2 A C 1 . . MedGen:CN169374 not_specified Likely_benign 7.525e-05 . intronic . . 7.245e-05 0.0001 8 +chr20 42815190 JPH2 G A 65 0.854233 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.8316 synonymous_SNV exonic . 0.8293 0.8292 0.8375 2.625 +chr20 61039958 GATA5 T C 44 0.629193 . . . . 0.5152 synonymous_SNV exonic . 0.5094 0.5142 0.5374 -2 +chr20 61040453 GATA5 C G 38 0.534545 . . . . 0.4912 synonymous_SNV exonic . 0.4841 0.4921 0.5042 -2 +chr20 61040951 GATA5 C T 38 0.529553 . . . . 0.5459 synonymous_SNV exonic . 0.4776 0.4787 0.4993 -2 +chr20 61048549 GATA5 G A 38 0.388179 . . . . 0.4679 synonymous_SNV exonic . 0.4344 0.4383 0.4330 -2 +chr20 61050223 GATA5 C A 1 . 2.136 . . . . nonsynonymous_SNV exonic D . . . 5 +chr20 61050238 GATA5 T C 1 . -0.649 . . . . nonsynonymous_SNV exonic T . . . 5 +chr21 35742799 KCNE2 A G 2 0.00139776 4.000 MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN221566|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome_6|not_specified|Long_QT_syndrome,_drug-associated|Cardiovascular_phenotype|not_provided Benign 0.0054 nonsynonymous_SNV exonic D 0.0069 0.0060 0.0064 1 +chr21 35821821 KCNE1 T C 49 0.673922 -1.420 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign 0.6443 nonsynonymous_SNV exonic T 0.6369 0.6420 0.6458 -1 +chr22 19867744 TXNRD2 G A 1 0.00858626 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 7.607e-05 unknown exonic . . 0.0001 0.0001 4.625 +chr22 19867771 TXNRD2 C T 12 0.269169 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1620 unknown exonic . 0.1615 0.1619 0.1510 3 +chr22 19868218 TXNRD2 A G 52 0.718251 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7400 unknown exonic T 0.7377 0.7391 0.7310 2 +chr22 19868255 TXNRD2 AGGGGGGCCA AGGGGGCCA 12 0.156749 . MedGen:CN169374 not_specified Benign 0.1660 . intronic . 0.1610 0.1565 0.1480 2 +chr22 19870831 TXNRD2 C T 24 0.221645 . MedGen:CN169374 not_specified Benign 0.3069 . intronic . 0.2962 0.3038 0.3008 3 +chr22 19870995 TXNRD2 CAGAGAGG CAGAGG 1 . . . . . . . intronic . . 1.791e-05 . 8 +chr22 19882976 TXNRD2 G T 1 0.0123802 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0005 synonymous_SNV exonic . 0.0007 0.0005 0.0002 2.625 +chr22 19882984 TXNRD2 T G 15 0.251198 -1.829 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1665 nonsynonymous_SNV exonic T 0.1662 0.1666 0.1572 5 +chr22 19885548 TXNRD2 G T 15 0.242212 . MedGen:CN169374 not_specified Benign 0.2105 . intronic . 0.1568 0.1687 0.1568 4 +chr22 19898886 TXNRD2 C T 10 0.171526 . MedGen:CN169374 not_specified Benign 0.0908 . intronic . 0.0903 0.0908 0.1058 2 +chr22 19902718 TXNRD2 ATG AG 1 0.00778754 . MedGen:CN169374 not_specified Benign 4.949e-05 . intronic . 0.0001 4.526e-05 0.0002 4 +chr22 19903290 TXNRD2 C G 1 0.0247604 2.850 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0001 0.0003 3.625 +chr22 19905801 TXNRD2 CG CA 4 . . . . . . . intronic . . . . 8.5 +chr22 19905802 TXNRD2 G A 41 0.7498 . . . . . . intronic . 0.5597 . 0.5638 2 +chr22 19906370 TXNRD2 G A 3 0.0297524 . MedGen:CN169374 not_specified Benign 0.0248 . intronic . 0.0297 0.0276 0.0226 2 +chr22 19906511 TXNRD2 G A 12 0.168131 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1510 synonymous_SNV exonic . 0.1476 0.1457 0.1431 3 +chr22 19907099 TXNRD2 C A 29 0.483027 6.178 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4078 nonsynonymous_SNV exonic T 0.3312 0.3327 0.3772 3 +chr22 19907118 TXNRD2 G A 42 0.596845 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5426 synonymous_SNV exonic . 0.4793 0.4826 0.5193 2 +chr22 19907192 TXNRD2 A G 45 0.754393 . . . . . . intronic . 0.5575 . 0.5641 2 +chr3 8775589 CAV3 C T 2 0.0425319 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1248 0.1301 0.1246 -2 +chr3 8775661 CAV3 C T 3 0.371006 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2648 synonymous_SNV exonic . 0.2388 0.2547 0.2666 -2 +chr3 8775702 CAV3 G A 4 0.076877 . MedGen:CN517202 not_provided not_provided 0.0556 . intronic . 0.0499 0.0503 0.0580 -2 +chr3 8787220 CAV3 T C 5 0.152955 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2372 synonymous_SNV exonic . 0.2410 0.2384 0.2446 -2 +chr3 8787330 CAV3 C T 1 0.00199681 4.085 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic D 0.0044 0.0037 0.0027 1 +chr3 14174146 TMEM43 T C 9 0.557308 . . . . 0.3973 . intronic . 0.4069 0.3989 0.4133 2 +chr3 14174427 TMEM43 A T 6 0.352636 2.489 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2792 nonsynonymous_SNV exonic T 0.2878 0.2838 0.2893 3 +chr3 14175262 TMEM43 T C 6 0.463259 0.428 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2864 nonsynonymous_SNV exonic T 0.2955 0.2909 0.2967 3 +chr3 32181761 GPD1L C T 5 0.14976 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1307 synonymous_SNV exonic . 0.1387 0.1348 0.1251 -2 +chr3 32188248 GPD1L GAG GG 1 0.101637 . . . . 0.0185 . intronic . 0.0194 0.0189 0.0159 -2 +chr3 38592406 SCN5A A G 12 0.492412 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3338 synonymous_SNV exonic . 0.3336 0.3339 0.3240 2 +chr3 38597180 SCN5A G A 1 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0044 synonymous_SNV exonic . 0.0045 0.0047 0.0060 4 +chr3 38601665 SCN5A C T 2 0.00359425 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0131 synonymous_SNV exonic . 0.0138 0.0134 0.0123 2 +chr3 38622465 SCN5A TCT TCC 2 . . . . . . frameshift_deletion exonic . . . . 8 +chr3 38622467 SCN5A T C 21 0.923123 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8898 synonymous_SNV exonic . 0.8830 0.8897 0.8978 2 +chr3 38622868 SCN5A G A 3 0.0323482 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0440 . intronic . 0.0430 0.0386 0.0366 2 +chr3 38640484 SCN5A C T 2 . -0.893 . . . . nonsynonymous_SNV exonic T . . . 9 +chr3 38645420 SCN5A T C 7 0.230431 -1.102 . . . 0.2246 nonsynonymous_SNV exonic T 0.2321 0.2301 0.2467 3 +chr3 38647642 SCN5A G T 3 0.151158 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1847 . intronic . 0.1850 0.1870 0.2089 2 +chr3 38674712 SCN5A T C 16 0.781749 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7906 synonymous_SNV exonic . 0.8072 0.7949 0.7774 2 +chr3 38739574 SCN10A T C 26 1 0.227 MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic T . 1 1 -1 +chr3 38739727 SCN10A C T 1 0.000998403 6.647 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0007 nonsynonymous_SNV exonic D 0.0019 0.0008 0.0007 2 +chr3 38739845 SCN10A A G 24 0.92472 . MedGen:CN169374 not_specified Benign 0.9180 synonymous_SNV exonic . 0.9151 0.9162 0.9122 -2 +chr3 38739857 SCN10A C T 1 . 6.248 . . . . nonsynonymous_SNV exonic D . . . 6 +chr3 38748833 SCN10A T C 4 0.242412 . MedGen:CN169374 not_specified Benign 0.1396 synonymous_SNV exonic . 0.1430 0.1404 0.1377 -2 +chr3 38753732 SCN10A A T 1 0.00119808 -1.271 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN517202 Brugada_syndrome|not_specified|not_provided Benign 0.0066 nonsynonymous_SNV exonic T 0.0065 0.0072 0.0053 1 +chr3 38763863 SCN10A G C 6 0.219649 . MedGen:CN169374 not_specified Benign 0.2636 synonymous_SNV exonic . 0.2602 0.2571 0.2677 -2 +chr3 38768247 SCN10A G A 5 0.190495 . MedGen:CN169374 not_specified Benign 0.2635 synonymous_SNV exonic . 0.2614 0.2571 0.2661 -2 +chr3 38768300 SCN10A T C 5 0.210663 -1.544 MedGen:CN169374 not_specified Benign 0.2642 nonsynonymous_SNV exonic T 0.2620 0.2575 0.2662 -1 +chr3 38768334 SCN10A T C 1 0.135982 . MedGen:CN169374 not_specified Benign 0.0644 synonymous_SNV exonic . 0.0648 0.0656 0.0613 -2 +chr3 38798171 SCN10A C T 4 0.207468 . MedGen:CN169374 not_specified Benign 0.2542 synonymous_SNV exonic . 0.2509 0.2474 0.2567 -2 +chr3 52485839 TNNC1 T A 1 . 2.734 . . . . nonsynonymous_SNV exonic T . . . 9 +chr3 57835519 SLMAP A G 1 0.000798722 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0036 synonymous_SNV exonic . 0.0036 0.0031 0.0025 0 +chr3 57846576 SLMAP TCA TAA 4 0.228634 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.2301 . intronic\x3bintronic . 0.1615 0.2452 0.2002 -2 +chr3 57846577 SLMAP CAAAAAAAAAATACTAAATAG AAAAAAAAAAATACTAAATAG 5 0.228634 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.2301 . intronic\x3bintronic . 0.1615 0.2452 0.2002 -2 +chr3 57850505 SLMAP CTTTTTTTTTTTTGGAC CTTTTTTTTTTTGGAC 1 . . . . . 0.2750 . intronic . . 0.2514 0.0026 -2 +chr3 57857438 SLMAP TAT TGT 1 0.0147764 . MedGen:CN169374 not_specified Benign 0.0489 . intronic . 0.0506 0.0523 0.0452 -2 +chr3 57882601 SLMAP C T 5 0.299521 . MedGen:CN169374 not_specified Benign 0.2669 synonymous_SNV exonic . 0.2420 0.2560 0.2499 -2 +chr3 57898376 SLMAP T A 1 0.0071885 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0282 synonymous_SNV exonic . 0.0320 0.0294 0.0254 -2 +chr3 57898434 SLMAP T A 1 . . . . . 3.231e-05 . intronic . . 1.851e-05 . 4 +chr3 57902639 SLMAP G A 2 0.0133786 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0334 synonymous_SNV exonic . 0.0322 0.0327 0.033 -2 +chr3 57908594 SLMAP CTTTTTTTTTCTTTGCC CTTTTTTTTCTTTGCC 9 0.1875 . . . . 0.1998 . intronic . 0.1907 0.2014 0.1827 -2 +chr3 196771513 DLG1 G A 2 0.0251597 4.635 . . . 0.0535 nonsynonymous_SNV exonic T 0.0471 0.0510 0.0556 3 +chr3 196771554 DLG1 T C 2 0.0253594 . . . . 0.0535 synonymous_SNV exonic . 0.0470 0.0517 0.0557 2 +chr3 196778438 DLG1 C T 11 0.264577 . . . . 0.2687 . intronic . 0.28 0.2717 0.2591 2 +chr3 196792163 DLG1 C T 1 0.00419329 7.123 . . . 0.0247 nonsynonymous_SNV exonic T 0.0245 0.0250 0.0240 3 +chr3 196812473 DLG1 C T 1 . 7.595 . . . . nonsynonymous_SNV exonic D 0.0001 8.967e-06 . 10 +chr3 196865242 DLG1 C T 8 0.127995 4.417 . . . 0.1487 nonsynonymous_SNV exonic T 0.1473 0.1455 0.1379 3 +chr3 196869688 DLG1 A G 26 0.993211 . . . . 1.0000 . intronic . 0.9999 1.0000 1 2 +chr3 196876600 DLG1 G A 4 0.0766773 . . . . 0.1784 . intronic . 0.1783 0.1725 0.1723 2 +chr3 196921360 DLG1 T C 1 0.0145767 2.040 . . . 0.0470 nonsynonymous_SNV exonic T 0.0443 0.0453 0.0511 3 +chr4 114120284 ANK2 C T 1 0.0253594 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.0343 . intronic . 0.0293 0.0358 0.0413 2 +chr4 114161619 ANK2 T C 1 0.00279553 . . . . 0.0110 . intronic . 0.0116 0.0122 0.0117 2 +chr4 114195737 ANK2 C T 1 . 7.219 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 2.999e-05 nonsynonymous_SNV exonic T . 6.288e-05 6.668e-05 9 +chr4 114213631 ANK2 C T 1 0.0215655 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0445 synonymous_SNV exonic . 0.0366 0.0355 0.0472 2 +chr4 114257201 ANK2 C T 1 0.260383 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0990 synonymous_SNV exonic . 0.1038 0.0993 0.1036 2 +chr4 114260492 ANK2 G T 1 0.228634 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Benign/Likely_benign 0.0990 . intronic . 0.1044 0.1002 0.1049 2 +chr4 114275243 ANK2 C T 4 0.0389377 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1139 synonymous_SNV exonic . 0.1119 0.1123 0.1214 2 +chr4 114275600 ANK2 C T 1 . . . . . 3e-05 synonymous_SNV exonic . . 2.695e-05 . 8 +chr4 114276330 ANK2 G A 1 . 1.905 . . . 1.499e-05 nonsynonymous_SNV exonic T . 0 . 9 +chr4 114276422 ANK2 C G 1 0.00139776 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0036 synonymous_SNV exonic . 0.0033 0.0037 0.0029 4 +chr4 114276880 ANK2 TTCAA CTCAG 4 . . . . . . nonframeshift_substitution exonic . . . . 8.5 +chr4 114279422 ANK2 A G 4 0.0920527 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1192 synonymous_SNV exonic . 0.1158 0.1167 0.1244 2 +chr4 114279674 ANK2 C A 1 0.00998403 2.371 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0264 nonsynonymous_SNV exonic D 0.0317 0.0271 0.0297 3 +chr4 114284645 ANK2 C T 4 0.0756789 . MedGen:C1970119,OMIM:600919|MedGen:CN169374 Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign 0.1185 . intronic . 0.1156 0.1161 0.1243 2 +chr4 114286357 ANK2 ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC 4 . . . . . 0.0456 . intronic . . . 0.1155 2 +chr4 114294308 ANK2 T C 4 0.313299 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1581 synonymous_SNV exonic . 0.1601 0.1561 0.1617 2 +chr4 120079159 MYOZ2 A G 14 0.546326 . MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided Benign 0.7014 . intronic . 0.7257 0.7092 0.7063 4.625 +chr4 120085448 MYOZ2 A G 3 0.0838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0251 synonymous_SNV exonic . 0.0248 0.0257 0.0257 3.25 +chr4 186064502 SLC25A4 G A 1 0.0788738 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign 0.0167 . UTR5 . 0.0099 0.0102 0.0144 -2 +chr4 186066373 SLC25A4 T C 1 0.00239617 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign/Likely_benign 0.0109 synonymous_SNV exonic . 0.0105 0.0112 0.0143 -2 +chr4 186423637 PDLIM3 G A 21 0.659545 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.8484 synonymous_SNV exonic . 0.8535 0.8525 0.8604 2 +chr4 186423655 PDLIM3 G A 5 0.139177 . MedGen:CN169374 not_specified Benign 0.1615 . intronic . 0.1602 0.1637 0.1652 2 +chr4 186446257 PDLIM3 G A 1 0.00259585 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0107 synonymous_SNV exonic . 0.0099 0.0109 0.0099 2.625 +chr4 186456617 PDLIM3 A G 26 0.948283 . . . . 0.9997 . UTR5 . 0.9993 0.9996 0.9997 2 +chr5 223646 SDHA A T 1 0.0185703 0.820 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0442 nonsynonymous_SNV exonic T 0.0456 0.0458 0.0444 3 +chr5 224633 SDHA A G 4 0.240016 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1253 synonymous_SNV exonic . 0.1294 0.1261 0.1134 3 +chr5 226160 SDHA A C 4 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1279 synonymous_SNV exonic . 0.1359 0.1282 0.1135 3 +chr5 228362 SDHA T C 4 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1360 0.1282 0.1140 3 +chr5 230980 SDHA A G 21 0.858427 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.8837 . intronic . 0.8817 0.8844 0.8853 4 +chr5 231111 SDHA T C 17 0.653355 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.7574 synonymous_SNV exonic . 0.7582 0.7575 0.7589 4 +chr5 231143 SDHA T C 4 0.247404 . . . . 0.1276 . intronic . 0.1356 0.1278 0.1139 3 +chr5 233734 SDHA C G 4 0.257788 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1283 synonymous_SNV exonic . 0.1373 0.1285 0.1132 3 +chr5 251541 SDHA A G 4 0.248403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1276 synonymous_SNV exonic . 0.1357 0.1272 0.1137 3 +chr5 256472 SDHA G A 4 0.335264 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1407 synonymous_SNV exonic . 0.1436 0.1323 0.1233 3 +chr5 256509 SDHA G A 4 0.175319 0.913 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1205 nonsynonymous_SNV exonic T 0.1299 0.1229 0.1084 4 +chr5 37294473 NUP155 T C 7 0.277157 . . . . 0.3075 synonymous_SNV exonic . 0.2929 0.2896 0.2895 2 +chr5 37307389 NUP155 T C 1 0.0589058 . . . . 0.0429 . intronic . 0.0406 0.0425 0.0498 2 +chr5 37309371 NUP155 TAGAAGAGG TAGAGG 7 0.269169 . . . . 0.3044 . intronic . 0.2911 0.2847 0.2869 2 +chr5 37333727 NUP155 A G 9 0.355032 . . . . 0.1704 synonymous_SNV exonic . 0.1599 0.1620 0.1693 2 +chr5 37341352 NUP155 T C 4 0.188698 . . . . 0.2136 . intronic . 0.2115 0.2132 0.2138 2 +chr5 37348573 NUP155 C A 1 0.0127796 . . . . 0.0001 . intronic . 0.0002 0.0001 6.668e-05 2 +chr5 37350390 NUP155 C A 8 0.33766 . . . . 0.1666 . intronic . 0.1597 0.1619 0.1696 2 +chr5 37364443 NUP155 C T 26 0.969649 . . . . 1.0000 synonymous_SNV exonic . 0.9999 0.9999 0.9999 2 +chr5 155771579 SGCD T C 13 0.485423 . MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign 0.4360 synonymous_SNV exonic . 0.4316 0.4309 0.4331 2 +chr6 7542148 DSP CAT CAAT 2 0.199681 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.1686 . UTR5 . 0.1456 0.1365 0.1418 2 +chr6 7542274 DSP T C 2 0.0609026 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.1147 synonymous_SNV exonic . 0.0524 0.0557 0.0529 2 +chr6 7563983 DSP T G 26 1 . MedGen:CN169374 not_specified Likely_benign 0.9985 synonymous_SNV exonic . 0.9981 0.9986 0.9992 2 +chr6 7565727 DSP A T 1 0.0183706 5.980 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0394 nonsynonymous_SNV exonic D 0.0419 0.0397 0.0387 9 +chr6 7566745 DSP GAAAAAAAAAAACTTT GAAAAAAAAAACTTT 1 . . . . . 0.0296 . intronic . 0.0298 0.0075 0.0002 2 +chr6 7572262 DSP A G 20 0.774361 . MedGen:CN169374 not_specified Benign 0.7720 synonymous_SNV exonic . 0.7795 0.7704 0.7585 2 +chr6 7576527 DSP G A 20 0.735423 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.7998 synonymous_SNV exonic . 0.8024 0.8007 0.7824 2 +chr6 7577260 DSP C T 6 0.27516 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.2210 synonymous_SNV exonic . 0.2159 0.2193 0.2309 2 +chr6 7578819 DSP TAGCG GAGCA 20 . . . . . . . intronic . . . . 9 +chr6 7580243 DSP G C 1 . 3.491 . . . . nonsynonymous_SNV exonic D . . . 9 +chr6 7581196 DSP G A 2 0.0071885 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0193 synonymous_SNV exonic . 0.0174 0.0192 0.0175 3.25 +chr6 7581636 DSP G A 5 0.240415 0.509 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided Benign 0.1230 nonsynonymous_SNV exonic T 0.1257 0.1218 0.1245 3 +chr6 7584611 DSP C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 0 0 6 +chr6 7584617 DSP C T 12 0.211661 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.3568 synonymous_SNV exonic . 0.3690 0.3556 0.3318 2 +chr6 7585670 DSP C A 5 0.0239617 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0674 synonymous_SNV exonic . 0.0633 0.0675 0.0605 3.25 +chr6 7585967 DSP G C 19 0.709465 . 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|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign 0.7101 synonymous_SNV exonic . 0.7173 0.7084 0.6820 2.625 +chr6 76545684 MYO6 T C 2 0.102636 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.1482 . intronic . 0.1521 0.1492 0.1487 2 +chr6 76554593 MYO6 G A 26 0.997804 . . . . 0.9853 . intronic . 0.9868 0.9856 0.9873 2 +chr6 76558260 MYO6 ATTTTTTTAAG ATTTTTTTTAAG 3 0.139577 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Likely_benign 0.0582 . intronic . 0.0583 0.0576 0.0565 2 +chr6 76576290 MYO6 C T 1 0.0289537 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0609 0.0615 0.0583 2 +chr6 76596728 MYO6 C T 14 0.147764 . MedGen:CN169374 not_specified Benign 0.3227 . intronic . 0.3349 0.3302 0.3225 4 +chr6 76608128 MYO6 G C 1 . 2.861 Human_Phenotype_Ontology:HP:0000789,MedGen:C0021359|Human_Phenotype_Ontology:HP:0003251,MedGen:C0021364,Orphanet:ORPHA98048,SNOMED_CT:2904007|MedGen:CN169374 Infertility|Male_infertility|not_specified Uncertain_significance 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0005 5 +chr6 76624741 MYO6 C T 14 0.146965 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.3592 . UTR3 . 0.3343 0.3327 0.3216 4 +chr6 112435264 LAMA4 T G 4 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2679 . intronic . 0.2706 0.2662 0.2602 2.625 +chr6 112435273 LAMA4 A C 4 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2678 . intronic . 0.2716 0.2663 0.2608 2.625 +chr6 112435912 LAMA4 A T 4 0.281749 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2904 synonymous_SNV exonic . 0.2894 0.2864 0.2846 2.625 +chr6 112440464 LAMA4 G A 1 0.0666933 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0013 synonymous_SNV exonic . 0.0020 0.0011 0.0007 2.625 +chr6 112457383 LAMA4 G C 3 0.210463 4.097 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2560 nonsynonymous_SNV exonic T 0.2603 0.2561 0.2516 3.625 +chr6 112457390 LAMA4 C T 23 0.839856 2.280 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7033 nonsynonymous_SNV exonic T 0.6965 0.7023 0.7204 3.625 +chr6 112457471 LAMA4 G A 23 0.840455 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7030 . intronic . 0.6959 0.7021 0.7197 2.625 +chr6 112471688 LAMA4 G C 5 0.3127 . . . . 0.2714 . intronic . 0.2797 0.2705 0.2618 3 +chr6 112480041 LAMA4 A G 1 0.091254 . MedGen:CN169374 not_specified Benign 0.0987 synonymous_SNV exonic . 0.0881 0.0964 0.1301 2 +chr6 112493872 LAMA4 A G 19 0.758387 -0.041 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.6004 nonsynonymous_SNV exonic T 0.6020 0.5971 0.6020 3.625 +chr6 112496511 LAMA4 C A 3 0.08127 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0145 . intronic . 0.0110 0.0128 0.0112 2.625 +chr6 112496690 LAMA4 G C 1 0.0315495 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0004 . intronic . 0.0005 0.0006 0.0004 2.625 +chr6 112506583 LAMA4 G T 20 0.900559 . . . . 0.7137 . intronic . 0.7115 0.7083 0.7025 2 +chr6 112508769 LAMA4 TG GT 26 . . MedGen:CN169374 not_specified Benign . nonframeshift_substitution exonic . . . . 9 +chr6 112512905 LAMA4 G A 3 0.316893 . MedGen:CN169374 not_specified Benign 0.1338 synonymous_SNV exonic . 0.1219 0.1299 0.1536 2 +chr6 112522852 LAMA4 G A 5 0.0309505 7.272 MedGen:CN169374 not_specified Benign 0.0609 nonsynonymous_SNV exonic T 0.0649 0.0648 0.0627 3 +chr6 112522893 LAMA4 A C 2 0.0207668 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0140 . intronic . 0.0103 0.0122 0.0107 2.625 +chr6 112537682 LAMA4 A G 2 0.0121805 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0252 . intronic . 0.0195 0.0231 0.0220 2.625 +chr6 123539904 TRDN C T 13 0.375998 . MedGen:CN169374 not_specified Benign 0.5013 . intronic . 0.4593 0.4754 0.4510 -2 +chr6 123581789 TRDN GAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG GAAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG,AAAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG,GAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG 13 . . . . . 0.0295 . intronic . . 0.0212 0.0010 -2 +chr6 123594181 TRDN T G 1 . . . . . . . intronic . . . . 4 +chr6 123595869 TRDN A C 2 0.263179 . . . . . . intronic . 0.1708 . 0.1901 -2 +chr6 123658825 TRDN G T 2 0.29373 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign 0.1911 . intronic . 0.1503 0.1684 0.1899 -2 +chr6 123687288 TRDN A C 26 0.939297 0.489 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.9106 nonsynonymous_SNV exonic T 0.9156 0.9089 0.9157 -1 +chr6 123687403 TRDN A G 1 . . . . . . . intronic . . . . 4 +chr6 123696766 TRDN G T 5 0.147364 0.783 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1474 nonsynonymous_SNV exonic T 0.1188 0.1186 0.1296 0 +chr6 123699019 TRDN A C 5 0.169129 2.548 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1831 nonsynonymous_SNV exonic T 0.1454 0.1525 0.1686 0 +chr6 123699042 TRDN T C 11 0.272165 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4311 synonymous_SNV exonic . 0.3635 0.3904 0.3618 -2 +chr6 123702499 TRDN G A 7 0.476238 . MedGen:CN169374 not_specified Benign 0.3708 . intronic . 0.3270 0.3220 0.3635 -1 +chr6 123714764 TRDN C T 1 0.0163738 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0819 . intronic . 0.0483 0.0498 0.0479 -2 +chr6 123833457 TRDN G C 21 0.843251 -0.289 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.8300 nonsynonymous_SNV exonic T 0.8615 0.8470 0.8672 -1 +chr6 123851610 TRDN G A 18 0.497404 . . . . 0.6181 . intronic . . 0.6339 0.6409 -2 +chr6 123869607 TRDN G C 14 0.392971 -0.436 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.5608 nonsynonymous_SNV exonic T 0.5375 0.5166 0.5242 -1 +chr6 123869769 TRDN TAAAAAAAAAAAAAAAGAAAAAGTTTGTG TAAAAAAAAAAAAAGAAAAAGTTTGTG 15 0.500599 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign 0.5243 . intronic . . 0.4867 0.5595 -2 +chr6 133782375 EYA4 T A 4 0.201278 . . . . . . intronic . 0.0669 . 0.0603 2 +chr6 133783625 EYA4 ATCTTCTG ATCTG 1 0.058107 . MedGen:CN169374|MedGen:CN239310|MedGen:CN239435 not_specified|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign 0.0006 . intronic . 0.0177 0.0006 0.0003 2 +chr6 133789728 EYA4 G A 11 0.409545 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign 0.3197 nonsynonymous_SNV exonic T 0.3128 0.3223 0.3103 3 +chr6 133827354 TARID A G 17 0.722244 . . . . 0.5672 . ncRNA_exonic . 0.5607 0.5633 0.5620 -2 +chr6 133849966 TARID C T 10 0.471046 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Likely_benign 0.3777 . ncRNA_intronic . 0.3865 0.3807 0.3957 -2 +chr6 152443744 SYNE1 G T 2 0.076877 4.671 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1516 nonsynonymous_SNV exonic T 0.1398 0.1501 0.1644 3 +chr6 152453291 SYNE1 G A 2 0.0257588 1.797 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0739 nonsynonymous_SNV exonic T 0.0745 0.0769 0.0768 3 +chr6 152454618 SYNE1 T C 1 . 2.612 . . . 1.518e-05 nonsynonymous_SNV exonic T . 8.958e-06 . 9 +chr6 152464839 SYNE1 A G 12 0.689696 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5481 synonymous_SNV exonic . 0.5564 0.5516 0.5468 2 +chr6 152466674 SYNE1 T C 6 0.366214 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3171 synonymous_SNV exonic . 0.3301 0.3201 0.3112 2 +chr6 152469188 SYNE1 C G 6 0.399361 0.755 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3230 nonsynonymous_SNV exonic T 0.3373 0.3248 0.3163 3 +chr6 152469331 SYNE1 C T 4 0.339457 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2768 synonymous_SNV exonic . 0.2944 0.2810 0.2778 2 +chr6 152470752 SYNE1 C A 3 0.115615 2.796 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0548 0.0534 0.0441 3 +chr6 152473181 SYNE1 T C 3 0.0365415 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0470 synonymous_SNV exonic . 0.0441 0.0439 0.0386 2 +chr6 152529122 SYNE1 G A 1 0.00339457 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0170 synonymous_SNV exonic . 0.0177 0.0177 0.0191 2 +chr6 152529260 SYNE1 GAT AAT 6 0.155152 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1315 synonymous_SNV exonic . 0.1341 0.1321 0.1210 2 +chr6 152540278 SYNE1 A C 25 0.995607 -0.224 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.9886 nonsynonymous_SNV exonic T 0.9901 0.9878 0.9892 3 +chr6 152542548 MIR3163 A G 5 0.337859 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2204 . ncRNA_intronic . 0.2248 0.2135 0.2303 -2 +chr6 152545665 SYNE1 G A 1 0.000199681 . MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0023 synonymous_SNV exonic . 0.0022 0.0019 0.0020 4 +chr6 152555057 SYNE1 T A 1 0.00978435 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0259 synonymous_SNV exonic . 0.0259 0.0249 0.0260 2 +chr6 152555112 SYNE1 C T 4 0.208866 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2231 . intronic . 0.2167 0.2160 0.2297 2 +chr6 152565669 SYNE1 C T 2 0.00439297 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 . intronic . 0.0007 0.0008 0.0005 4 +chr6 152570274 SYNE1 A G 1 0.0607029 . . . . 0.0782 . intronic . 0.0780 0.0786 0.0692 2 +chr6 152570415 SYNE1 G A 15 0.680711 . MedGen:CN169374 not_specified Benign 0.6208 . intronic . 0.6098 0.6133 0.6467 2 +chr6 152577752 SYNE1 T C 3 0.0764776 . MedGen:CN169374 not_specified Benign 0.0622 . intronic . 0.0598 0.0592 0.0500 2 +chr6 152615200 SYNE1 G A 5 0.147764 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1932 synonymous_SNV exonic . 0.1917 0.1932 0.1927 2 +chr6 152629617 SYNE1 C T 9 0.304313 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3227 . intronic . 0.3235 0.3209 0.3338 2 +chr6 152629631 SYNE1 C T 1 0.038139 6.154 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0080 nonsynonymous_SNV exonic T 0.0071 0.0066 0.0075 3 +chr6 152629772 SYNE1 GAAAAAAAAAAAAAACAGAAAGATAGAC GAAAAAAAAAAAAACAGAAAGATAGAC,GAAAAAAAAAAAACAGAAAGATAGAC 1 0.014377 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0271 . intronic . . 0.0205 0.0128 2 +chr6 152640110 SYNE1 G A 1 0.0463259 2.539 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0289 nonsynonymous_SNV exonic T 0.0272 0.0292 0.0336 3 +chr6 152646279 SYNE1 G C 1 0.0623003 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0298 synonymous_SNV exonic . 0.0280 0.0305 0.0334 2 +chr6 152647194 SYNE1 C T 1 . 2.298 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic T 0.0012 0.0012 0.0007 5 +chr6 152647681 SYNE1 A T 17 0.814696 1.978 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7581 nonsynonymous_SNV exonic T 0.7494 0.7562 0.7754 3 +chr6 152650903 SYNE1 G A 1 0.033746 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0386 synonymous_SNV exonic . 0.0436 0.0396 0.0382 2 +chr6 152652034 SYNE1 A T 17 0.803315 -5.477 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7577 nonsynonymous_SNV exonic T 0.7490 0.7561 0.7745 3 +chr6 152652599 SYNE1 G A 1 0.0335463 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0388 synonymous_SNV exonic . 0.0437 0.0397 0.0385 2 +chr6 152653037 SYNE1 T C 14 0.413139 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4696 . intronic . 0.4607 0.4617 0.4722 2 +chr6 152658062 SYNE1 C G 2 0.0123802 6.665 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0358 nonsynonymous_SNV exonic T 0.0326 0.0357 0.0318 3 +chr6 152658141 SYNE1 CT AC,CC 2 . . . . . . frameshift_deletion exonic . . . . 8 +chr6 152658142 SYNE1 T C 15 0.793131 0.371 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7478 nonsynonymous_SNV exonic T 0.7194 0.7459 0.7642 3 +chr6 152660451 SYNE1 G A 2 0.0732827 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1418 synonymous_SNV exonic . 0.1315 0.1438 0.1464 2 +chr6 152665261 SYNE1 C A 16 0.545527 0.235 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6031 nonsynonymous_SNV exonic T 0.6178 0.6078 0.6094 3 +chr6 152671475 SYNE1 A C 16 0.58746 . MedGen:CN169374 not_specified Benign 0.6003 . intronic . 0.6098 0.6049 0.6074 2 +chr6 152671919 SYNE1 GAAAAAAAAATGAGC GAAAAAAAAAATGAGC 16 0.56889 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5945 . intronic . . 0.5914 0.6112 2 +chr6 152673147 SYNE1 G A 16 0.565895 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6003 . intronic . 0.6134 0.6040 0.6083 2 +chr6 152675854 SYNE1 A G 16 0.568291 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6001 synonymous_SNV exonic . 0.6133 0.6049 0.6074 2 +chr6 152679594 SYNE1 A G 1 0.00459265 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0159 synonymous_SNV exonic . 0.0176 0.0144 0.0133 2 +chr6 152683413 SYNE1 G T 20 0.659145 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6652 synonymous_SNV exonic . 0.6806 0.6701 0.6773 2 +chr6 152686071 SYNE1 A G 2 0.00199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 synonymous_SNV exonic . 0.0064 0.0062 0.0056 4 +chr6 152686090 SYNE1 G T 2 0.00199681 2.251 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 nonsynonymous_SNV exonic T 0.0064 0.0062 0.0057 5 +chr6 152694184 SYNE1 T C 15 0.468251 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5328 synonymous_SNV exonic . 0.5458 0.5394 0.5421 2 +chr6 152694190 SYNE1 T C 1 0.000599042 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0020 synonymous_SNV exonic . 0.0015 0.0016 0.0015 4 +chr6 152697706 SYNE1 C T 11 0.529153 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4739 . intronic . 0.4606 0.4658 0.4662 2 +chr6 152708310 SYNE1 G A 4 0.249002 0.486 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2229 nonsynonymous_SNV exonic T 0.2190 0.2241 0.2138 3 +chr6 152712715 SYNE1 GAAAAAAAAAAAAAAGAAAAAAAATTAATTCT GAAAAAAAAAAAAAGAAAAAAAATTAATTCT,AAAAAAAAAAAAAAAAAAAAAAGAAAAAAAATTAATTCT,GAAAAAAAAAAAAAAAAAAAAGAAAAAAAATTAATTCT 4 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Uncertain_significance 0.0572 . intronic . . . 0.1628 2 +chr6 152746593 SYNE1 A T 1 0.0327476 -0.505 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0553 nonsynonymous_SNV exonic T 0.0516 0.0539 0.0622 3 +chr6 152751218 SYNE1 ATAGTAGA ATAGA 7 . . MedGen:CN169374 not_specified Likely_benign 0.1868 . intronic . 0.1354 0.1288 0.1291 2 +chr6 152765726 SYNE1 GAAAAAAAAAAACACGT GAAAAAAAAAACACGT 2 . . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Uncertain_significance 0.2367 . intronic . 0.1587 0.1741 0.0478 2 +chr6 152771849 SYNE1 G A 1 0.048722 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 synonymous_SNV exonic . 0.0680 0.0663 0.0729 2 +chr6 152772264 SYNE1 A G 10 0.607228 3.767 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4291 nonsynonymous_SNV exonic D 0.4295 0.4232 0.4198 3 +chr6 152777095 SYNE1 A C 1 0.0433307 0.696 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 nonsynonymous_SNV exonic T 0.0679 0.0664 0.0734 3 +chr6 152784602 SYNE1 G A 1 0.000599042 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0054 synonymous_SNV exonic . 0.0057 0.0056 0.0050 4 +chr6 152793412 SYNE1 C A 16 0.855232 . MedGen:CN169374 not_specified Benign 0.7166 . intronic . 0.7044 0.7070 0.7065 2 +chr6 152793572 SYNE1 TAAA AAAG,TAAG 16 . . . . . . . intronic . . . . 9 +chr6 152809527 SYNE1 A T 10 0.589257 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4370 . intronic . 0.4328 0.4257 0.4250 2 +chr6 152847284 SYNE1 A G 1 0.00279553 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0119 synonymous_SNV exonic . 0.0114 0.0112 0.0117 2 +chr6 152847335 SYNE1 G A 7 0.264177 . MedGen:CN169374 not_specified Benign 0.3249 . intronic . 0.3233 0.3243 0.3317 2 +chr7 81579832 CACNA2D1 TAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC TAAAAAAAAAAAGAAAAGAACAGAAAAAGAAAAATC 1 0.0621006 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0992 . intronic . 0.0808 0.0996 0.0856 -2 +chr7 81588636 CACNA2D1 G A 5 0.222644 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3047 synonymous_SNV exonic . 0.3153 0.3061 0.3054 -2 +chr7 81591716 CACNA2D1 T G 5 0.230232 . . . . 0.3482 . intronic . 0.3168 0.3118 0.3041 -2 +chr7 81593454 CACNA2D1 G A 8 0.257987 . . . . 0.2096 . intronic . 0.2076 0.2123 0.1978 -2 +chr7 81603870 CACNA2D1 TGAAAAAAAAACATTT TGAAAAAAAAAAACATTT 1 0.096845 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1140 . intronic\x3bintronic . 0.0922 0.0903 0.0838 -2 +chr7 81603871 CACNA2D1 GAAAAAAAAACATTT GAAAAAAAAAAACATTT 2 0.096845 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1140 . intronic\x3bintronic . 0.0922 0.0903 0.0838 -2 +chr7 81620630 CACNA2D1 C T 1 . . . . . . . intronic . . . . 4 +chr7 81634822 CACNA2D1 GAAAAAAAAAAAAAAGCTT GAAAAAAAAAAAAAGCTT 6 0.20028 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.3124 . intronic . . 0.2613 0.0468 -2 +chr7 81641570 LOC101927356 GAAAAAAAAAAAAAGTCG GAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAAGTCG 6 0.221046 . MedGen:CN169374 not_specified Benign 0.1156 . ncRNA_intronic . . 0.1431 0.2453 -2 +chr7 81667468 CACNA2D1 C T 1 0.019369 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0502 synonymous_SNV exonic . 0.0448 0.0474 0.0631 -2 +chr7 81695842 CACNA2D1 TAAAAAAAAAAAAAAAAGAGAGATATT TAAAAAAAAAAAAAAAAAGAGAGATATT,TAAAAAAAAAAAAAAAGAGAGATATT 1 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.3344 . intronic . . 0.3351 0.0184 -2 +chr7 81765996 CACNA2D1 CAAAAAAAAAAGAACGC CAAAAAAAAAAAGAACGC,CAAAAAAAAAAGAATGC 1 . . . . . 0 . intronic . 0.0001 0 6.714e-05 4 +chr7 81799966 CACNA2D1 G A 1 0.0139776 . . . . 0.0244 . intronic . 0.0274 0.0265 0.0216 -2 +chr7 81799990 CACNA2D1 T C 1 0.0609026 . . . . . . intronic . 0.0292 . 0.0218 -2 +chr7 81799996 CACNA2D1 C G 1 0.0609026 . . . . . . intronic . 0.0289 . 0.0218 -2 +chr7 81964578 CACNA2D1 GAAAAAAAAAACTAG GAAAAAAAAAAACTAG 10 0.16254 . MedGen:CN169374 not_specified Benign 0.2135 . intronic . 0.2010 0.2304 0.2180 -2 +chr7 91630620 AKAP9 G T 11 0.372204 -0.375 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Colorectal_cancer|Cardiovascular_phenotype Benign/Likely_benign 0.4004 nonsynonymous_SNV exonic T 0.4030 0.3908 0.3782 3 +chr7 91632306 AKAP9 C T 23 0.935903 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.8650 synonymous_SNV exonic . 0.8727 0.8638 0.8471 2 +chr7 91641928 AKAP9 A G 11 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4006 synonymous_SNV exonic . 0.4031 0.3908 0.3779 2 +chr7 91643610 AKAP9 G A 1 0.000399361 4.914 EFO:EFO_0004287,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 Ventricular_fibrillation|Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0009 0.0004 0.0003 5 +chr7 91646406 AKAP9 G A 1 0.0109824 0.354 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0154 nonsynonymous_SNV exonic T 0.0089 0.0083 0.0063 3 +chr7 91652178 AKAP9 AAACT AAACAACT 11 0.42472 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4010 nonframeshift_insertion exonic . 0.4031 0.3893 0.3761 2 +chr7 91691601 AKAP9 C T 11 0.359824 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4002 synonymous_SNV exonic . 0.4031 0.3906 0.3776 2 +chr7 91707197 AKAP9 C T 11 0.36242 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified Benign/Likely_benign 0.4291 . intronic . 0.4004 0.3882 0.3782 2 +chr7 91708898 AKAP9 A G 3 0.0654952 -1.816 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1364 nonsynonymous_SNV exonic T 0.1273 0.1370 0.1533 3 +chr7 91712698 AKAP9 A G 11 0.295927 -0.076 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3992 nonsynonymous_SNV exonic T 0.4013 0.3899 0.3764 3 +chr7 91713972 AKAP9 C T 11 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4000 synonymous_SNV exonic . 0.4027 0.3900 0.3782 2 +chr7 91714092 AKAP9 ATTTTTTTTTTTTTAACAG ATTTTTTTTTTTTAACAG 1 . . . . . 0.1956 . intronic . . 0.1726 0.0035 2 +chr7 91714911 AKAP9 C T 26 0.998802 -0.130 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.9963 nonsynonymous_SNV exonic T 0.9962 0.9963 0.9942 3 +chr7 91715662 AKAP9 C T 11 0.295727 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3990 synonymous_SNV exonic . 0.4013 0.3898 0.3766 2 +chr7 91726927 AKAP9 A C 11 0.377396 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4001 synonymous_SNV exonic . 0.4036 0.3909 0.3776 2 +chr7 91729127 AKAP9 A G 1 0.00678914 1.252 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0099 nonsynonymous_SNV exonic T 0.0088 0.0104 0.0093 3 +chr7 92085669 GATAD1 C T 1 . . . . . 1.541e-05 . intronic . . 6.533e-05 0.0002 6 +chr7 92085763 GATAD1 C T 1 0.00698882 7.208 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign 0.0164 nonsynonymous_SNV exonic T 0.0155 0.0172 0.0138 3.625 +chr7 128477472 FLNC T C 2 0.121805 . MedGen:CN169374 not_specified Benign 0.1113 synonymous_SNV exonic . 0.1110 0.1118 0.1201 -2 +chr7 150645534 KCNH2 T G 7 0.136182 2.039 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.2348 nonsynonymous_SNV exonic T 0.2326 0.2359 0.2577 3 +chr7 150648198 KCNH2 A G 18 0.772165 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.5994 synonymous_SNV exonic . 0.5898 0.6023 0.6004 2 +chr7 150648789 KCNH2 T C 10 0.608427 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3756 synonymous_SNV exonic . 0.3601 0.3725 0.3836 2 +chr7 150649531 KCNH2 G A 8 0.341653 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2218 synonymous_SNV exonic . 0.2133 0.2141 0.2223 2 +chr7 150649603 KCNH2 G A 8 0.342652 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2213 synonymous_SNV exonic . 0.2135 0.2152 0.2231 2 +chr7 150655219 KCNH2 C T 2 . 5.033 . . . . nonsynonymous_SNV exonic D . . . 10 +chr7 150655361 KCNH2 C A 2 . . . . . . synonymous_SNV exonic . . . . 8 +chr7 151262385 PRKAG2 T C 5 0.0171725 . . . . 0.0411 . intronic . 0.0316 0.0351 0.0340 -2 +chr7 151262528 PRKAG2 A C 1 0.00239617 . . . . . . intronic . . . 0.0008 0 +chr7 151267353 PRKAG2 G A 3 0.144169 . MedGen:CN169374 not_specified Benign 0.1175 . intronic . 0.1105 0.1131 0.1201 -2 +chr7 151329255 PRKAG2 A G 1 . . . . . 5.705e-05 . UTR5 . . 3.368e-05 . 4 +chr7 151573580 PRKAG2 G A 2 0.0277556 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.0710 . intronic . 0.0769 0.0731 0.0817 -0.75 +chr7 151573731 PRKAG2 G A 2 0.188898 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign 0.1276 . UTR5 . 0.1259 0.1237 0.1309 -0.75 +chr9 71650752 FXN A G 26 0.984824 . MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736 Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype Benign 1 synonymous_SNV exonic . . 0.9998 0.9999 2 +chr9 71668197 FXN T C 17 0.501597 . . . . 0.5290 . intronic . 0.5149 0.5285 0.5132 2 +chr9 103348319 MURC C T 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.977e-06 . 8 +chr9 103348634 MURC G A 8 0.293331 . MedGen:CN169374 not_specified Benign 0.4040 synonymous_SNV exonic . 0.4166 0.4052 0.4264 4 +chr9 108363426 FKTN C T 2 0.0103834 5.704 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0368 nonsynonymous_SNV exonic D 0.0283 0.0273 0.0245 4 +chr9 108366499 FKTN G A 1 0.0371406 1.784 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0106 nonsynonymous_SNV exonic T 0.0114 0.0110 0.0108 3 +chr9 108366734 FKTN G A 4 0.158147 3.672 MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3053 nonsynonymous_SNV exonic T 0.3190 0.3085 0.3229 4 +chr9 108370092 FKTN G T 1 . . MedGen:CN169374 not_specified Uncertain_significance . . intronic . . . . 8 +chr9 108380352 FKTN G A 1 . . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Walker-Warburg_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0007 synonymous_SNV exonic . 0.0003 0.0004 0.0012 4 +chr9 108380355 FKTN C A 4 0.178315 . MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3058 synonymous_SNV exonic . 0.3177 0.3079 0.3218 2 +chr9 131709581 DOLK ATA ATTA 1 0.00259585 . MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Benign/Likely_benign 0.0130 frameshift_insertion exonic . 0.0092 0.0114 0.0092 2 +chrX 31224684 DMD A G 64 0.803974 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.9039 . intronic . 0.8793 0.8838 0.8864 3.25 +chrX 31496350 DMD C T 65 0.881854 2.138 MedGen:CN169374 not_specified Benign 0.9459 nonsynonymous_SNV exonic T 0.9392 0.9407 0.9457 3 +chrX 31496426 DMD T C 2 0.0370861 1.799 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0117 nonsynonymous_SNV exonic T 0.0085 0.0102 0.0117 5.5 +chrX 31496431 DMD T A 2 0.0357616 5.718 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0117 nonsynonymous_SNV exonic T 0.0085 0.0101 0.0119 5.5 +chrX 31676096 DMD G A 25 0.328477 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.3496 . intronic . 0.3511 0.3465 0.3714 3.25 +chrX 31697636 DMD A G 9 0.181192 . 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 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1871 synonymous_SNV exonic . 0.2027 0.1943 0.1815 3.25 +chrX 31893307 DMD T G 19 0.183311 1.905 MedGen:CN169374 not_specified Benign 0.2685 . splicing T 0.2178 0.2076 0.2224 7 +chrX 31986499 DMD G A 2 . 6.561 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0004 0.0003 0 5 +chrX 32380996 DMD C T 25 0.465166 6.788 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 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4823 nonsynonymous_SNV exonic T 0.4770 0.4775 0.4730 4.25 +chrX 32408311 DMD T C 7 0.0336424 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.0806 . intronic . 0.0779 0.0740 0.0821 3.25 +chrX 32456458 DMD C T 2 . 7.478 MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001 Duchenne_muscular_dystrophy Uncertain_significance 2.099e-05 nonsynonymous_SNV exonic T . 1.253e-05 . 9 +chrX 32459449 DMD A G 2 0.0010596 . MedGen:CN169374 not_specified Benign 0.0104 . intronic . 0.0089 0.0099 0.0107 2 +chrX 32472763 DMD CTTTTTTTTTTTTTACCTTCA CTTTTTTTTTTTTTTACCTTCA,CTTTTTTTTTTTTACCTTCA 2 . . MedGen:CN169374 not_specified Benign 0.0578 . intronic . 0.1409 0.0768 0.0021 2 +chrX 32486756 DMD C T 4 0.00874172 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:CN169374|MedGen:CN230736 Duchenne_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0190 synonymous_SNV exonic . 0.0166 0.0202 0.0178 2 +chrX 32503194 DMD T C 34 0.748344 0.631 MedGen:CN169374 not_specified Benign 0.6644 nonsynonymous_SNV exonic T 0.6629 0.6613 0.6750 3 +chrX 32563263 DMD A G 25 0.412185 . MedGen:C3668940,OMIM:302045|MedGen:CN169374 Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.2441 . intronic . 0.2398 0.2317 0.2242 3.25 +chrX 32591811 DMD A G 14 0.0731126 . MedGen:CN169374 not_specified Benign 0.1289 . intronic . 0.1216 0.1272 0.1260 2 +chrX 32591931 DMD T C 14 0.110464 . 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 Duchenne_muscular_dystrophy|Becker_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1329 synonymous_SNV exonic . 0.1225 0.1272 0.1269 3.25 +chrX 32613880 DMD T A 2 . 3.637 . . . . nonsynonymous_SNV exonic T . . . 9 +chrX 32632565 DMD T C 2 . 4.518 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 Primary_dilated_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0002 0 9.5 +chrX 32867945 DMD TAAAAAAAATACACT TAAAAAAAAATACACT 8 0.0762914 . MedGen:C0013264,OMIM:310200,Orphanet:ORPHA98896,SNOMED_CT:76670001|MedGen:C3668940,OMIM:302045|MedGen:CN169374 Duchenne_muscular_dystrophy|Dilated_cardiomyopathy_3B|not_specified Benign/Likely_benign 0.1149 . intronic . 0.1180 0.1074 0.1141 3.25 +chrX 100653950 na T C 12 0.16106 . MedGen:CN169374 not_specified Benign 0.1191 . intronic . 0.1205 0.1202 0.1226 -2 +chrX 100662901 GLA G A 10 0.124503 . 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 Fabry_disease|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|not_provided Benign 0.0594 . UTR5 . 0.0605 0.0593 0.0609 2 +chrX 100662903 GLA C T 1 0.0988079 . 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 Fabry_disease|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0279 . UTR5 . 0.0303 0.0288 0.0239 4 +chrX 108868153 KCNE5 G A 9 0.0519205 -2.020 . . . 0.1836 nonsynonymous_SNV exonic T 0.1424 0.1677 0.1475 -1 +chrX 119573169 LAMP2 G A 1 . . . . . 0.0005 . intronic . 0.0001 0.0004 9.446e-05 4 +chrX 119576454 LAMP2 C T 1 . 5.030 MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN517202 Danon_disease|not_provided Pathogenic . nonsynonymous_SNV exonic T . . . 9 +chrX 119576455 LAMP2 G A 4 0.013245 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0407 synonymous_SNV exonic . 0.0407 0.0401 0.0402 2 +chrX 119590533 LAMP2 T A 30 0.380927 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0878677,OMIM:300257,Orphanet:ORPHA34587,SNOMED_CT:419097006|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Danon_disease|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4528 synonymous_SNV exonic . 0.4261 0.4100 0.4223 2 +chrX 135279350 FHL1 C A 1 . . . . . . . intronic . . . . 8 +chrX 135292022 FHL1 C T 27 0.519735 . MedGen:C2678055,OMIM:300696,Orphanet:ORPHA178461|MedGen:C2678061,OMIM:300695,Orphanet:ORPHA431272|MedGen:CN169374 Myopathy_with_postural_muscle_atrophy,_X-linked|Scapuloperoneal_myopathy,_X-linked_dominant|not_specified Benign 0.4981 . intronic . 0.4397 0.5134 0.5799 2 +chrX 153640406 DNASE1L1 C T 22 0.0649007 . MedGen:C0574083,OMIM:302060,Orphanet:ORPHA111,SNOMED_CT:297231002|MedGen:CN169374 3-Methylglutaconic_aciduria_type_2|not_specified Conflicting_interpretations_of_pathogenicity 0.3080 . UTR5 . 0.2477 0.2524 0.2525 0 +chrX 153641619 TAZ C T 3 0.00450331 . . . . 0.0100 . intronic . 0.0089 0.0089 0.0057 4 +chrX 153648032 TAZ C T 2 . . . . . . . intronic . . . . 8 +chrX 153648156 TAZ C T 2 . . . . . . . intronic . . . . 8 +chr3 12626632 RAF1 T G 3 . 3.634 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.968e-06 . 9 +chr7 91726576 AKAP9 C T 3 . 11.961 . . . . stopgain exonic . . . . 13 +chr7 91737871 AKAP9 C G 2 . 12.107 . . . . stopgain exonic . . 8.955e-06 . 13 +chr6 7569521 DSP G GG 1 . . . . . . frameshift_insertion exonic . . . . 8 +chr1 156100468 LMNA TCTGCTGAAC TCTGCTGAACTCTGCTGAAC 7 . . . . . . frameshift_insertion exonic . . . . 9 +chr11 47369407 MYBPC3 C T 2 . 5.088 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Cardiovascular_phenotype|not_provided Pathogenic 0 . splicing . . 1.44e-05 . 18 +chr1 78401654 NEXN AAT A 14 . . . . . . frameshift_deletion exonic . . . . 9 +chr2 179434234 TTN AC A 4 . . . . . . frameshift_deletion exonic . . . . 8.5
--- /dev/null Thu Jan 01 00:00:00 1970 +0000 +++ b/test-data/T.csv Tue Jun 09 15:57:22 2020 +0000 @@ -0,0 +1,3740 @@ +CHR start gene ref alt AC 1000g2015aug_all CADD_raw CLNDISDB CLNDN CLNSIG ExAC_NFE ExonicFunc.refGene Func.refGene MetaSVM_pred esp6500siv2_ea gnomAD_exome_NFE gnomAD_genome_NFE VINYL_score +10 18429624 CACNB2 C A 11 0.0301518 . MedGen:CN169374 not_specified Benign 0.0474 . UTR5 . 0.0316 0.0372 0.0392 -2.5 +10 18429627 CACNB2 C T 1 0.000199681 . . . . 4.472e-05 . UTR5 . . 1.32e-05 . 2.5 +10 18429839 CACNB2 C T 1 0.000399361 . . . . . . UTR5 . . . 0.0020 0 +10 18430167 CACNB2 G C 9 0.00798722 . . . . 0.0366 . intronic . 0.0274 0.0172 0.0139 -2.5 +10 18430169 CACNB2 G T 1 0.0091853 . . . . 0 . intronic . 0.0006 0.0001 0 0 +10 18430220 CACNB2 G A 34 0.107628 . . . . . . intronic . . . 0.1135 -2.5 +10 18439747 CACNB2 C T 31 0.0970447 . . . . . . intronic . . . 0.1119 -2.5 +10 18439784 CACNB2 CTTTTTTT C 7 0.0900559 . MedGen:C2678477,OMIM:611876 Brugada_syndrome_4 Likely_benign 0.0021 . intronic . . . . -2.5 +10 18439900 CACNB2 G A 1 0.000599042 6.628 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic D 0.0009 0.0014 0.0012 4 +10 18439926 CACNB2 T C 27 0.0632987 . . . . 0.1292 . intronic . 0.1213 0.1275 0.1093 -2.5 +10 18439993 CACNB2 A C 3 0.00179712 . . . . . . intronic . . . 0.0055 0 +10 18691018 CACNB2 G A 116 0.391973 . . . . 0.5070 . intronic . 0.5115 0.5076 0.5052 -2.5 +10 18691019 CACNB2 C A 2 0.00159744 . . . . 0.0098 . intronic . 0.0092 0.0094 0.0073 0 +10 18787308 CACNB2 C T 1 0.000199681 8.208 . . . 1.499e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 6.5 +10 18787448 CACNB2 C G 1 0.0792732 . . . . 0.0030 . intronic . 0.0030 0.0033 0.0031 -2.5 +10 18787485 CACNB2 G A 2 0.000798722 . . . . . . intronic . . . 0 0 +10 18789724 CACNB2 T G 79 0.229832 . MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome_4|not_specified Benign 0.3240 . intronic . 0.3157 0.3230 0.3179 -2.5 +10 18789924 CACNB2 C G 1 0.000998403 . . . . 0.0004 . intronic . 0.0007 0.0006 0.0006 0 +10 18795351 CACNB2 G T 1 0.000199681 . . . . 0 . intronic . . 0 . 2.5 +10 18795447 CACNB2 G C 2 0.00179712 2.683 MedGen:C2678477,OMIM:611876|MedGen:C3150852,OMIM:613601|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome_4|Early_repolarization_associated_with_ventricular_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0012 0.0014 0.0009 2 +10 18795555 CACNB2 G A 1 0.000199681 . . . . . . intronic . . . 0.0038 0 +10 18795596 CACNB2 G A 82 0.503395 . . . . . . intronic . . . 0.3757 3.5 +10 18803338 CACNB2 A G 4 0.014377 . . . . 0.0720 . intronic\x3bintronic . 0.0767 0.0752 0.0773 -2.5 +10 18804094 CACNB2 T C 86 0.409545 . . . . . . intronic . . . 0.3659 3.5 +10 18807246 CACNB2 G T 1 0.000199681 . . . . . . intronic . . . . 2.5 +10 18816565 CACNB2 G A 1 0.00359425 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0112 synonymous_SNV exonic . 0.0124 0.0116 0.0112 -2.5 +10 18816633 CACNB2 C T 27 0.239417 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.1597 . intronic . 0.1603 0.1604 0.1784 -2.5 +10 18822993 CACNB2 C T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 0.0003 . intronic . 0.0005 0.0003 0.0002 0 +10 18825201 CACNB2 T G 4 0.0103834 . . . . . . intronic . . . . -2.5 +10 18825202 CACNB2 TGG GGG,T 4 0.607827 . . . . . . intronic . . . 0.2463 -2.5 +10 18825203 CACNB2 G T 12 0.0642971 . . . . . . intronic . . . 0.0119 -2.5 +10 18825204 CACNB2 G T 12 0.0642971 . . . . . . intronic . . . . -2.5 +10 18827336 CACNB2 T C 1 0.000199681 . . . . 1.531e-05 . intronic . . 3.632e-05 6.674e-05 2.5 +10 18828191 CACNB2 C T 2 0.00279553 2.546 MedGen:C2678477,OMIM:611876|MedGen:CN230736 Brugada_syndrome_4|Cardiovascular_phenotype Benign/Likely_benign 0.0063 synonymous_SNV exonic . 0.0083 0.0076 0.0084 0 +10 18828230 CACNB2 T C 2 0.000998403 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0016 synonymous_SNV exonic . 0.0024 0.0017 0.0015 0 +10 18828371 CACNB2 C T 26 0.23722 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1593 synonymous_SNV exonic . 0.1615 0.1600 0.1784 -2.5 +10 18828455 CACNB2 C T 1 0.00778754 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0002 synonymous_SNV exonic . 0.0002 9.858e-05 6.68e-05 0 +10 18828486 CACNB2 C G 1 0.00439297 4.555 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0145 nonsynonymous_SNV exonic D 0.0170 0.0160 0.0161 -0.5 +10 18828561 CACNB2 A G 1 0.000199681 3.389 MedGen:CN169374 not_specified Uncertain_significance 1.509e-05 nonsynonymous_SNV exonic D . 8.972e-06 . 4.5 +10 18828635 CACNB2 T G 53 0.0970447 2.791 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1826 nonsynonymous_SNV exonic T 0.1729 0.1809 0.1766 -0.5 +10 18828645 CACNB2 C T 1 0.000998403 6.542 MedGen:C2678477,OMIM:611876|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 3.083e-05 nonsynonymous_SNV exonic D . 1.86e-05 0 4 +10 18828663 CACNB2 G T 173 0.774361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2678477,OMIM:611876|MedGen:CN169374 Brugada_syndrome|Brugada_syndrome_4|not_specified Benign/Likely_benign 0.7877 . UTR3 . . 0.7836 0.7942 0.5 +10 18828670 CACNB2 T C 47 0.0756789 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 0.2713 . UTR3 . . 0.0916 0.1957 -2.5 +10 21074724 NEBL T C 12 0.0666933 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0737 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0762 0.0734 0.0776 1.5 +10 21076080 NEBL A C 1 0.000199681 . . . . 5.296e-05 . intronic . . 7.128e-05 . 6.5 +10 21076100 NEBL C A 12 0.221845 . . . . 0.0298 . intronic . 0.0238 0.0213 0.0177 1.5 +10 21076285 NEBL C G 22 0.0251597 . . . . 0.0774 . intronic . 0.0705 0.0757 0.0668 1.5 +10 21076307 NEBL C T 64 0.299521 . . . . . . intronic . . . 0.3437 1.5 +10 21097556 NEBL G A 1 0.000199681 14.964 MedGen:CN169374 not_specified Uncertain_significance 1.504e-05 stopgain exonic . 0.0001 2.696e-05 6.661e-05 11.5 +10 21098878 NEBL G A 17 0.0834665 . . . . 0.0163 . intronic . . 0.0138 0.0017 1.5 +10 21098879 NEBL G A 43 0.226637 . . . . . . intronic . . . . 1.5 +10 21101734 NEBL T C 2 0.00139776 -0.155 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign/Likely_benign 0.0016 nonsynonymous_SNV exonic T 0.0019 0.0018 0.0019 7.25 +10 21104492 NEBL C T 2 0.000798722 . . . . . . intronic . . . 0.0006 4 +10 21104694 NEBL A T 90 0.558906 . . . . 0.3861 . intronic . 0.3794 0.3858 0.3644 1.5 +10 21108377 NEBL C T 57 0.183706 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2958 synonymous_SNV exonic . 0.2952 0.2986 0.3057 1.5 +10 21112068 NEBL G T 1 0.00159744 . . . . . . intronic . . . 0.0053 4 +10 21112111 NEBL A T 55 0.302117 . . . . 0.3146 . intronic . 0.2187 0.2795 0.2738 1.5 +10 21112137 NEBL A T 11 0.124601 2.904 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0231 nonsynonymous_SNV exonic T 0.0224 0.0216 0.0187 3.5 +10 21112258 NEBL A C 1 0.00459265 . . . . 4.939e-05 . intronic . . 6.493e-05 6.668e-05 4 +10 21115332 NEBL T C 91 0.558307 . . . . 0.3875 . intronic . 0.3815 0.3874 0.3664 1.5 +10 21115347 NEBL A G 4 0.00559105 . . . . 0.0126 . intronic . 0.0131 0.0121 0.0096 1.5 +10 21115491 NEBL G T 1 0.000199681 . . . . 1.526e-05 . intronic . . 3.646e-05 0.0001 6.5 +10 21117573 NEBL T A 1 0.000199681 . . . . . . intronic . . . . 6.5 +10 21120116 NEBL A G 74 0.46905 . MedGen:CN169374 not_specified Benign 0.3503 . intronic . 0.3458 0.3524 0.3394 1.5 +10 21129588 NEBL T C 19 0.0449281 . . . . . . intronic . . . 0.0743 1.5 +10 21134282 NEBL C G 19 0.0385383 5.403 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0832 nonsynonymous_SNV exonic T 0.0828 0.0808 0.0742 3.5 +10 21139389 NEBL T C 19 0.038738 1.032 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0833 nonsynonymous_SNV exonic T 0.0834 0.0811 0.0743 3.5 +10 21141398 NEBL G A 5 0.0119808 . . . . . . intronic . . . 0.0428 1.5 +10 21141429 NEBL G A 1 0.000199681 . . . . 0.0011 . intronic . 0.0014 0.0012 0.0006 4 +10 21141440 NEBL AG A 53 0.252796 . . . . 0.2575 . intronic . 0.2555 0.2637 0.2586 1.5 +10 21141469 NEBL T C 214 0.952476 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9993 . intronic . 0.9994 0.9994 0.9997 1.5 +10 21147144 NEBL G A 2 0.0543131 . . . . 0.0073 . intronic . 0.0052 0.0064 0.0065 1.5 +10 21148584 NEBL C A 141 0.502995 . . . . . . intronic . . . 0.6573 1.5 +10 21157673 NEBL C T 1 0.00139776 2.566 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0031 nonsynonymous_SNV exonic T 0.0022 0.0029 0.0023 8.5 +10 21157763 NEBL CAA CA,C 1 0.102835 . . . . . . intronic . . . 0.0074 1.5 +10 21157774 NEBL AAAAT A 1 0.0517173 . . . . . . intronic . . . 0.0014 1.5 +10 21158728 NEBL C T 1 0.000399361 1.228 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004 Primary_dilated_cardiomyopathy Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0002 8.5 +10 21176945 NEBL G A 196 0.886981 . . . . . . intronic . . . 0.9243 1.5 +10 21177128 NEBL G C 1 0.000599042 9.147 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0021 stopgain exonic . 0.0017 0.0023 0.0027 11.5 +10 21177143 NEBL GA GAA,G 1 0.0111821 . . . . 0.0012 . intronic . . 0.0007 0.0008 1.5 +10 21177156 NEBL GA G 141 0.540535 . . . . 0.6507 . intronic . 0.6444 0.6390 0.6549 1.5 +10 21178948 NEBL A T 1 0.0181709 . . . . . . intronic . . . 0.0003 1.5 +10 21185821 NEBL A C 214 0.923522 . . . . . . intronic . . . 0.9958 1.5 +10 21185931 NEBL A G 1 0.00119808 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign 0.0013 synonymous_SNV exonic . 0.0008 0.0015 0.0015 4.625 +10 21185974 NEBL G A 1 0.000199681 . . . . . . intronic\x3bintronic . . . . 6.5 +10 21250698 NEBL T C 1 0.000199681 2.461 . . . . nonsynonymous_SNV exonic T . . . 8.5 +10 21309211 NEBL C T 5 0.00539137 . . . . . . intronic . . . 0.0166 1.5 +10 21461232 NEBL G A 30 0.230232 . . . . . . intronic . . . 0.1556 1.5 +10 21461237 NEBL T A 1 0.000199681 . . . . . . intronic . . . . 6.5 +10 21461410 NEBL G GA 53 0.353634 . MedGen:CN169374 not_specified not_provided 0.2116 . intronic . . 0.2908 0.2007 1.5 +10 21462769 NEBL G A 3 0.0163738 . MedGen:CN169374 not_specified Benign 0.0044 . UTR5 . 0.0052 0.0047 0.0033 1.5 +10 21462878 NEBL G A 3 0.0163738 . . . . . . UTR5 . . . 0.0033 1.5 +10 67726514 CTNNA3 A C 56 0.352636 . MedGen:CN169374 not_specified Benign 0.3036 . intronic . 0.3110 0.3028 0.3127 -2.5 +10 67748412 CTNNA3 G A 1 0.000199681 . . . . . . intronic . . . . 2.5 +10 68040240 CTNNA3 G T 4 0.0690895 . MedGen:C3810138,OMIM:615616|MedGen:CN169374 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13|not_specified Benign 0.0210 synonymous_SNV exonic . 0.0205 0.0181 0.0161 -2.5 +10 68040325 CTNNA3 C T 80 0.485024 0.202 . . . 0.3747 nonsynonymous_SNV exonic T 0.3621 0.3655 0.3892 -0.5 +10 68139038 CTNNA3 C T 1 0.000199681 3.955 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 6.661e-05 4.5 +10 68139039 CTNNA3 G A 1 0.00499201 4.125 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0165 nonsynonymous_SNV exonic T 0.0151 0.0133 0.0139 -0.5 +10 68139142 CTNNA3 G A 39 0.0940495 . . . . 0.1785 . intronic . 0.1845 0.1778 0.1759 -2.5 +10 68381592 CTNNA3 T C 3 0.00239617 . . . . 0.0041 . intronic . 0.0042 0.0037 0.0038 0 +10 68381615 CTNNA3 A T 1 0.000199681 . . . . . . intronic . . . . 2.5 +10 68535233 CTNNA3 A G 1 0.000199681 2.979 . . . 1.501e-05 nonsynonymous_SNV exonic T . 9.013e-06 . 4.5 +10 68979342 CTNNA3 A T 1 0.000199681 . . . . . . intronic . . . . 2.5 +10 68979343 CTNNA3 C G 14 0.187899 . . . . 0.1136 . intronic . 0.1072 0.1134 0.1160 -2.5 +10 68979636 CTNNA3 G A 1 0.000798722 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0023 . intronic . 0.0020 0.0026 0.0022 0 +10 69281585 CTNNA3 A C 18 0.187101 . . . . 0.1131 . intronic . 0.1113 0.1108 0.1357 -2.5 +10 69281701 CTNNA3 A T 7 0.0113818 2.461 MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0252 nonsynonymous_SNV exonic T 0.0253 0.0247 0.0270 -0.5 +10 69281732 CTNNA3 A G 15 0.0593051 . MedGen:CN169374 not_specified Benign 0.0535 . intronic . 0.0592 0.0553 0.0539 -2.5 +10 69299192 CTNNA3 C T 5 0.0179712 . . . . . . intronic . . . 0.0648 -2.5 +10 69299372 CTNNA3 T G 4 0.0147764 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0183 synonymous_SNV exonic . 0.0226 0.0199 0.0176 -2.5 +10 69299446 CTNNA3 T A 24 0.195487 . MedGen:CN169374 not_specified Benign 0.1056 . intronic . 0.1024 0.1047 0.0960 -2.5 +10 69366602 CTNNA3 T C 58 0.529952 . MedGen:CN169374 not_specified Benign 0.2901 . intronic . 0.2893 0.2871 0.2905 -2.5 +10 69407239 CTNNA3 G A 1 0.000399361 . MedGen:C3810138,OMIM:615616 Arrhythmogenic_right_ventricular_dysplasia,_familial,_13 Benign 0.0027 synonymous_SNV exonic . 0.0035 0.0029 0.0021 0 +10 69407254 CTNNA3 T A 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . 0.0002 0.0002 6.665e-05 2.5 +10 69882040 MYPN A G 1 0.000199681 5.735 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0003 nonsynonymous_SNV exonic D 0.0002 0.0002 0.0003 10.5 +10 69902919 MYPN T C 4 0.114217 . . . . 0.0455 . intronic . 0.0477 0.0475 0.0474 1.5 +10 69905300 MYPN G A 28 0.295927 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0783 . intronic . 0.0807 0.0778 0.0747 2.125 +10 69905411 MYPN T C 1 0.000599042 . . . . . . intronic . . . 0.0003 4 +10 69908063 MYPN A T 6 0.0577077 . . . . 0.0154 . intronic . 0.0126 0.0154 0.0169 1.5 +10 69908157 MYPN T C 6 0.120607 0.535 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0155 nonsynonymous_SNV exonic T 0.0147 0.0160 0.0178 4.125 +10 69908241 MYPN G A 22 0.121605 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0618 . intronic . 0.0643 0.0608 0.0557 2.125 +10 69909756 MYPN T C 4 0.0946486 . . . . 0.0321 . intronic . 0.0344 0.0341 0.0327 1.5 +10 69909802 MYPN G A 14 0.0842652 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.0880 synonymous_SNV exonic . 0.0826 0.0854 0.0795 1.5 +10 69909844 MYPN C A 1 0.00199681 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0008 0.0007 0.0006 5.25 +10 69909899 MYPN G A 15 0.14996 . . . . 0.0893 . intronic . 0.0826 0.0860 0.0803 1.5 +10 69918442 MYPN CACTT C 4 0.0379393 . . . . . . intronic . . . 0.0168 1.5 +10 69925596 MYPN G C 1 0.00199681 . MedGen:C3714995,OMIM:615248 Dilated_cardiomyopathy_1KK Benign 0.0119 . intronic . 0.0095 0.0116 0.0118 2.125 +10 69926097 MYPN T C 140 0.482628 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.6868 synonymous_SNV exonic . 0.6960 0.6904 0.7102 1.5 +10 69926319 MYPN C A 49 0.116613 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1679 synonymous_SNV exonic . 0.1735 0.1614 0.1621 1.5 +10 69926325 MYPN C T 53 0.157748 . MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1823 synonymous_SNV exonic . 0.1866 0.1760 0.1790 1.5 +10 69926334 MYPN C G 87 0.316494 0.756 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5038 nonsynonymous_SNV exonic T 0.5095 0.5137 0.5306 3.5 +10 69933921 MYPN G A 85 0.335863 0.657 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4801 nonsynonymous_SNV exonic T 0.48 0.4878 0.5016 3.5 +10 69933969 MYPN G A 85 0.32508 1.882 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.4795 nonsynonymous_SNV exonic T 0.4798 0.4873 0.5011 3.5 +10 69934012 MYPN C A 4 0.0429313 . MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0144 synonymous_SNV exonic . 0.0123 0.0143 0.0164 2.125 +10 69934258 MYPN C G 108 0.471446 2.029 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.5520 nonsynonymous_SNV exonic T 0.5509 0.5577 0.5682 3.5 +10 69934259 MYPN G A 4 0.0103834 2.875 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0278 nonsynonymous_SNV exonic T 0.035 0.0292 0.0245 4.125 +10 69934467 MYPN A G 164 0.817093 . . . . . . intronic . . . 0.8187 1.5 +10 69935059 MYPN A G 139 0.547524 . . . . 0.7115 . intronic . 0.7103 0.7115 0.7219 1.5 +10 69935062 MYPN T G 1 0.00519169 . . . . 0.0021 . intronic . . 0.0011 . 4 +10 69935235 MYPN T C 214 0.982428 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.9996 . intronic . 0.9990 0.9997 0.9997 2.125 +10 69948844 MYPN T C 214 0.984625 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.9997 synonymous_SNV exonic . 0.9994 0.9999 0.9998 1.5 +10 69948892 MYPN G C 2 0.0141773 . MedGen:C3714995,OMIM:615248|MedGen:CN169374 Dilated_cardiomyopathy_1KK|not_specified Benign 0.0024 . intronic . 0.0019 0.0022 0.0020 2.125 +10 69954090 MYPN A G 4 0.00678914 . . . . 0.0215 . intronic . 0.0199 0.0201 0.0233 1.5 +10 69954290 MYPN G A 85 0.35603 . . . . 0.4839 . intronic . 0.4774 0.4878 0.5009 1.5 +10 69954301 MYPN C T 42 0.117812 . . . . 0.1605 . intronic . 0.1633 0.1512 0.1518 7.5 +10 69955140 MYPN T A 131 0.48143 . . . . . . intronic . . . 0.6764 1.5 +10 69957279 MYPN T G 1 0.000599042 . . . . 0.0001 . intronic . 0.0002 0.0001 6.761e-05 4 +10 69959097 MYPN G T 145 0.538139 . . . . 0.7449 . intronic . 0.7473 0.7461 0.7554 1.5 +10 69959174 MYPN C T 2 0.00259585 5.849 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN169882|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified|Familial_hypertrophic_cardiomyopathy_22|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0033 nonsynonymous_SNV exonic T 0.0024 0.0027 0.0022 11 +10 69959242 MYPN C A 85 0.340256 6.536 MedGen:C3714995,OMIM:615248|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1KK|not_specified|Cardiovascular_phenotype|not_provided Benign 0.4806 nonsynonymous_SNV exonic T 0.4786 0.4879 0.5020 4.125 +10 69959281 MYPN G C 1 0.000199681 6.922 . . . . nonsynonymous_SNV exonic D . . . 10.5 +10 69959345 MYPN GCTGGGA G 85 0.358227 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3714995,OMIM:615248|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1KK|not_specified Benign 0.4708 . intronic . 0.4553 0.4842 0.4950 2.125 +10 69959397 MYPN G A 85 0.358227 . . . . . . intronic . . . 0.5019 1.5 +10 69961805 MYPN G A 3 0.00678914 . . . . . . intronic . . . 0.0144 1.5 +10 69966602 MYPN G A 2 0.000399361 . . . . 4.496e-05 synonymous_SNV exonic . . 5.38e-05 0.0001 6.5 +10 69969986 MYPN C T 77 0.285743 . . . . . . intronic . . . 0.3131 1.5 +10 69969987 MYPN G A 2 0.00898562 . . . . . . intronic . . . 0.0021 4 +10 75834538 VCL C T 1 0.000599042 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0011 synonymous_SNV exonic . 0.0010 0.0014 0.0013 5.25 +10 75842152 VCL G A 71 0.511182 . . . . . . intronic . . . 0.3736 1.5 +10 75843100 VCL T A 108 0.780751 . MedGen:CN169374 not_specified Benign 0.5331 . intronic . 0.5227 0.5322 0.5449 1.5 +10 75849921 VCL T C 1 0.00199681 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype Benign 0.0062 synonymous_SNV exonic . 0.0056 0.0062 0.0047 4.625 +10 75849991 VCL C A 1 0.0249601 . . . . 0.0043 . intronic . 0.0035 0.0039 0.0035 1.5 +10 75855541 VCL C T 1 0.00319489 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0028 synonymous_SNV exonic . 0.0015 0.0022 0.0022 6.5 +10 75863750 VCL C T 167 0.500998 . . . . . . intronic . . . 0.7179 1.5 +10 75865065 VCL G A 132 0.324681 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5852 synonymous_SNV exonic . 0.5895 0.5798 0.5824 1.5 +10 75865095 VCL A G 7 0.0365415 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 0 synonymous_SNV exonic . . 9.001e-06 0 1.5 +10 75865159 VCL C T 16 0.0157748 . . . . 0.0575 . intronic . 0.0610 0.0553 0.0535 1.5 +10 75866929 VCL C A 133 0.400958 . . . . . . intronic . . . 0.5877 4.5 +10 75871735 VCL C G 170 0.623003 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7428 synonymous_SNV exonic . 0.7521 0.7412 0.7447 1.5 +10 75873892 VCL C T 133 0.400958 . . . . 0.5913 . intronic . 0.5953 0.5850 0.5886 4.5 +10 75873920 VCL C G 1 0.00279553 . . . . 0.0105 . intronic . 0.0124 0.0114 0.0107 1.5 +10 75874190 VCL T C 2 0.0125799 . . . . 0.0037 . intronic . . 0.0045 0.0044 1.5 +10 75874192 VCL T C 126 0.382788 . . . . 0.4862 . intronic . . . 0.5403 1.5 +10 75874667 VCL A T 1 0.000998403 . MedGen:C1969639,OMIM:611407|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1W|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0058 . intronic . 0.0038 0.0045 0.0045 6.5 +10 88439094 LDB3 G A 1 0.000798722 . . . . 0.0025 . intronic . 0.0028 0.0029 0.0039 4 +10 88439175 LDB3 G C 1 0.000199681 5.907 . . . 4.497e-05 nonsynonymous_SNV exonic T . 3.581e-05 6.67e-05 8.5 +10 88439866 LDB3 G A 1 0.00439297 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 7.5e-05 synonymous_SNV exonic . 0.0002 8.952e-05 6.676e-05 4 +10 88440018 LDB3 G A 9 0.0726837 . . . . . . intronic . . . 0.0365 1.5 +10 88441223 LDB3 G A 2 0.00159744 1.436 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0072 nonsynonymous_SNV exonic T 0.0070 0.0068 0.0067 6 +10 88441269 LDB3 C T 1 0.000199681 -1.218 MedGen:CN169374 not_specified Likely_benign 6.306e-05 nonsynonymous_SNV exonic T 0.0001 6.398e-05 0 8.5 +10 88441437 LDB3 C T 2 0.000599042 1.083 MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN229629|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Familial_hypertrophic_cardiomyopathy_24|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0002 0.0007 0.0007 11 +10 88441527 LDB3 G A 1 0.000199681 4.708 MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374 Myofibrillar_myopathy,_ZASP-related|not_specified Uncertain_significance 7.751e-05 nonsynonymous_SNV exonic T . 5.544e-05 . 8.5 +10 88445385 LDB3 G C 150 0.624201 . MedGen:CN169374 not_specified Benign 0.7452 . intronic . 0.7528 0.7447 0.7454 1.5 +10 88446811 LDB3 G A 9 0.0613019 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0363 . intronic . 0.0396 0.0360 0.0414 1.5 +10 88446830 LDB3 G A 2 0.00778754 3.591 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1832244,OMIM:601493|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1C|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0043 nonsynonymous_SNV exonic T 0.0040 0.0040 0.0029 11 +10 88446985 LDB3 T C 9 0.0567093 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0361 synonymous_SNV exonic . 0.0407 0.0360 0.0414 4.5 +10 88447076 LDB3 A T 2 0.00479233 . . . . 0.0023 . intronic . 0.0035 0.0023 0.0025 4 +10 88447082 LDB3 A C 9 0.0439297 . . . . . . intronic . . . 0.0412 4.5 +10 88451649 LDB3 A G 2 0.0061901 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0023 . intronic . 0.0038 0.0023 0.0025 4 +10 88451715 LDB3 A G 1 0.0171725 3.610 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0011 nonsynonymous_SNV exonic T 0.0010 0.0014 0.0011 3.5 +10 88451869 LDB3 G C 34 0.241214 . MedGen:CN169374 not_specified Benign 0.1302 . intronic . 0.1154 0.1231 0.1273 1.5 +10 88452190 LDB3 G A 1 0.000998403 . . . . . . intronic . . . 0.0034 4 +10 88452258 LDB3 G A 6 0.00259585 . . . . 0.0058 . intronic . 0.0038 0.0056 0.0026 5 +10 88458996 LDB3 TTCTCTCTC CTCTCTCTC,TTCTCTC,TTCTC,TTC,T 6 0.0501198 . . . . 0.0283 . intronic . . 0.0239 0.0004 1.5 +10 88459000 LDB3 C G 2 0.0301518 . . . . . . intronic . . . . 1.5 +10 88459002 LDB3 C T 2 0.0301518 . . . . 0.0001 . intronic . . 1.247e-05 . 1.5 +10 88459050 LDB3 G A 1 0.000798722 . MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0008 synonymous_SNV exonic . 0.0001 0.0006 0.0005 4 +10 88459055 LDB3 G A 1 0.000199681 2.444 . . . 2.999e-05 nonsynonymous_SNV exonic T . 1.801e-05 0 8.5 +10 88459066 LDB3 C T 1 0.000199681 2.712 MedGen:CN169374 not_specified Uncertain_significance 1.5e-05 nonsynonymous_SNV exonic T 0.0001 2.694e-05 6.684e-05 8.5 +10 88466465 LDB3 C T 12 0.0201677 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Benign 0.0489 synonymous_SNV exonic . 0.0369 0.0442 0.0477 1.5 +10 88469831 LDB3 G A 2 0.00698882 . . . . 0.0085 . intronic . 0.0072 0.0086 0.0129 1.5 +10 88469837 LDB3 C G 6 0.0385383 . MedGen:CN169374 not_specified Likely_benign 0.0359 . intronic . 0.0357 0.0339 0.0392 1.5 +10 88476105 LDB3 C G 1 0.000199681 4.244 MedGen:C0340427,Orphanet:ORPHA217607|MedGen:C1836155,OMIM:609452,Orphanet:ORPHA98912|MedGen:CN169374|MedGen:CN230736 Familial_dilated_cardiomyopathy|Myofibrillar_myopathy,_ZASP-related|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0001 8.5 +10 88477932 LDB3 CAT C 1 0.00798722 . . . . 0.0003 . intronic . 0.0004 0.0004 0 4 +10 88485858 LDB3 C T 2 0.00439297 . . . . 0.0018 . intronic . 0.0027 0.0019 0.0017 4 +10 92672564 ANKRD1 T C 92 0.354233 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Likely_benign . . UTR3 . . . 0.4794 1.5 +10 92675649 ANKRD1 GA G 39 0.178714 . MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.1657 . intronic . 0.1575 0.1591 0.1705 1.5 +10 92675857 ANKRD1 G A 16 0.0621006 . . . . . . intronic . . . 0.0269 1.5 +10 92678728 ANKRD1 G A 1 0.000798722 3.758 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0003 0.0003 6 +10 92678744 ANKRD1 A T 170 0.810104 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0120 . intronic . . 0.0017 0.0083 1.5 +10 92678747 ANKRD1 A G 92 0.357827 . . . . . . intronic . . . . 1.5 +10 92678748 ANKRD1 A T 169 0.784545 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0429 . intronic . . 0.0085 0.0626 1.5 +10 92678761 ANKRD1 A C 4 0.00419329 . . . . . . intronic . . . . 5 +10 92678762 ANKRD1 T A 4 0.00419329 . . . . . . intronic . . . . 5 +10 92678764 ANKRD1 T A 4 0.00419329 . . . . . . intronic . . . . 5 +10 92678765 ANKRD1 A G 112 0.441094 . . . . 0.6758 . intronic . . 0.6641 0.5462 1.5 +10 92678789 ANKRD1 T C 5 0.00319489 . . . . . . intronic . . . 0.0083 5 +10 92680886 ANKRD1 G A 1 0.000998403 . MedGen:CN239310 Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . UTR5 . . . 0.0002 4 +10 101473218 COX15 A G 188 0.827077 0.914 MedGen:C0268237,OMIM:220110,Orphanet:ORPHA254905,SNOMED_CT:67434000|MedGen:CN169374 Hepatic_failure,_early-onset,_and_neurologic_disorder_due_to_cytochrome_C_oxidase_deficiency|not_specified Benign 0.8737 nonsynonymous_SNV exonic T 0.8733 0.8763 0.8814 3.5 +10 101474499 COX15 T C 50 0.233427 . . . . 0.2828 . intronic . 0.2957 0.2904 0.3256 4.5 +10 101487354 COX15 G T 1 0.000599042 . . . . 0.0024 . intronic . 0.0033 0.0027 0.0021 4 +10 112404302 RBM20 G A 32 0.222244 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1372 synonymous_SNV exonic . . 0.1492 0.1394 1.5 +10 112541062 RBM20 G A 1 0.0271565 5.048 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0017 nonsynonymous_SNV exonic T 0.0016 0.0012 0.0003 4.75 +10 112541073 RBM20 T C 1 0.000199681 -0.375 . . . . nonsynonymous_SNV exonic T . . . 8.5 +10 112541335 RBM20 A G 1 0.000199681 -0.710 . . . . nonsynonymous_SNV exonic T . . . 8.5 +10 112541676 RBM20 T C 52 0.132987 . . . . 0.2764 . intronic . 0.2788 0.3045 0.2962 1.5 +10 112541678 RBM20 G A 52 0.132987 . . . . 0.2764 . intronic . . 0.3041 0.2958 1.5 +10 112543217 RBM20 G A 153 0.788139 . . . . 0.7966 . intronic . 0.7879 0.7960 0.8062 1.5 +10 112544042 RBM20 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +10 112544063 RBM20 A C 109 0.633986 . . . . 0.5824 . intronic . 0.5698 0.5772 0.5783 1.5 +10 112544244 RBM20 G A 2 0.00778754 . . . . . . intronic . 0.0066 . 0.0033 4 +10 112544505 RBM20 G T 4 0.00139776 . . . . 0.0084 . intronic . . 0.0037 0.0035 5 +10 112544655 RBM20 C T 41 0.164137 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2137 . intronic . 0.2200 0.2240 0.2270 1.5 +10 112559490 RBM20 C A 1 0.000199681 . . . . . . intronic . . . . 6.5 +10 112559652 RBM20 G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +10 112570130 RBM20 G C 5 0.0365415 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0253 . intronic . 0.0245 0.0229 0.0225 2.75 +10 112570147 RBM20 G A 1 0.000199681 7.468 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 0.0001 nonsynonymous_SNV exonic D . 5.18e-05 0.0002 10.5 +10 112570243 RBM20 T C 91 0.316494 . . . . 0.3895 . intronic . 0.3755 0.3846 0.3705 1.5 +10 112572147 RBM20 C T 1 0.000998403 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0034 synonymous_SNV exonic . . 0.0033 0.0022 6.5 +10 112572458 RBM20 G C 214 0.991014 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 nonsynonymous_SNV exonic . 0.9994 0.9997 0.9997 4.75 +10 112579791 RBM20 C T 1 0.000798722 . . . . 0.0010 . intronic . . 0.0005 0.0003 4 +10 112583178 RBM20 ATGTTGTATTTCTT A 1 0.00359425 . . . . . . intronic . . . . 4 +10 112583294 RBM20 G A 3 0.00199681 3.854 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0085 nonsynonymous_SNV exonic T 0.0053 0.0051 0.0044 7.25 +10 112590778 RBM20 G C 1 0.0407348 . . . . 0.0009 . intronic . 0.0013 0.0009 0.0006 1.5 +10 112590810 RBM20 G C 214 0.969649 . MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 . intronic . 0.9994 0.9998 0.9998 2.75 +10 112590980 RBM20 C T 1 0.000199681 . . . . 0.0002 . intronic . . 0.0010 0.0005 4 +10 112595719 RBM20 G C 172 0.697085 5.504 MedGen:C2750995,OMIM:613172|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Dilated_cardiomyopathy_1DD|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8681 nonsynonymous_SNV exonic T 0.8724 0.8665 0.8760 4.75 +10 121429394 BAG3 G A 7 0.00738818 2.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0301 nonsynonymous_SNV exonic T 0.0326 0.0312 0.0351 4.75 +10 121429412 BAG3 C T 1 0.000199681 0.270 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0003 8.5 +10 121429633 BAG3 T C 34 0.0964457 4.176 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.2214 nonsynonymous_SNV exonic T 0.2073 0.2177 0.2062 3.5 +10 121429645 BAG3 G A 2 0.00179712 0.668 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:C3151293,OMIM:613881|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|Dilated_cardiomyopathy_1HH|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0046 nonsynonymous_SNV exonic T . 0.0036 0.0029 7.25 +10 121432040 BAG3 C T 1 0.000199681 2.527 MedGen:CN169374 not_specified Likely_benign 1.507e-05 nonsynonymous_SNV exonic T . 1.804e-05 0 8.5 +10 121435955 BAG3 A C 164 0.635184 . MedGen:CN169374 not_specified Benign 0.7299 . intronic . 0.7245 0.7294 0.7195 1.5 +10 121436068 BAG3 T G 23 0.155751 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0846 synonymous_SNV exonic . 0.0881 0.0861 0.0958 1.5 +10 121436100 BAG3 A T 1 0.000199681 5.722 . . . 4.496e-05 nonsynonymous_SNV exonic T . 3.581e-05 . 8.5 +10 121436286 BAG3 C T 23 0.155551 3.244 MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.0844 nonsynonymous_SNV exonic T 0.0877 0.0860 0.0960 3.5 +10 121436362 BAG3 A G 176 0.70647 . MedGen:C2751831,OMIM:612954,Orphanet:ORPHA199340|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Myofibrillar_myopathy,_BAG3-related|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign 0.7819 synonymous_SNV exonic . 0.7792 0.7841 0.7798 1.5 +11 533415 HRAS G A 1 0.000399361 . . . . 0.0006 . intronic\x3bintronic . 0.0007 0.0009 0.0009 0 +11 533546 HRAS G A 2 0.000798722 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Costello_syndrome|Rasopathy|not_specified Benign 0.0015 synonymous_SNV exonic . 0.0012 0.0018 0.0015 0 +11 533664 HRAS T A 2 0.000399361 . . . . 3.018e-05 . intronic . . 2.69e-05 0.0001 2.5 +11 533821 HRAS G C 1 0.000199681 2.510 . . . . nonsynonymous_SNV exonic T . . . 4.5 +11 534197 HRAS C T 14 0.0766773 . MedGen:CN169374 not_specified Benign 0.0401 . intronic . 0.0431 0.0417 0.0474 -2.5 +11 534242 HRAS A G 69 0.297125 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign 0.3297 synonymous_SNV exonic . 0.3441 0.3384 0.3542 3.5 +11 534332 HRAS G A 7 0.0357428 . MedGen:C0587248,OMIM:218040,Orphanet:ORPHA3071,SNOMED_CT:309776008|MedGen:CN169374|MedGen:CN517202 Costello_syndrome|not_specified|not_provided Benign 0.0573 . UTR5 . 0.0462 0.0500 0.0430 -2.5 +11 2466274 KCNQ1 G C 1 0.000199681 . . . . . . UTR5 . . . 0 6.5 +11 2466501 KCNQ1 C T 1 0.000199681 3.646 . . . . nonsynonymous_SNV exonic D . . . 8.5 +11 2549229 KCNQ1 C T 1 0.000399361 3.595 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Uncertain_significance 0.0002 nonsynonymous_SNV exonic D 0.0005 0.0002 6.676e-05 6 +11 2549230 KCNQ1 G A 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0027 0.0020 0.0020 4 +11 2549257 KCNQ1 C T 1 0.0171725 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.0003 . intronic . 0.0003 0.0003 0.0004 1.5 +11 2549329 KCNQ1 TGG T 118 0.593251 . . . . . . intronic . . . 0.6615 1.5 +11 2591802 KCNQ1 T G 1 0.00419329 . . . . . . intronic . . . 0.0004 4 +11 2591893 KCNQ1 C T 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0013 synonymous_SNV exonic . 0.0016 0.0010 0.0013 4 +11 2592033 KCNQ1 G A 1 0.000599042 . . . . 0.0019 . intronic . 0.0037 0.0023 0.0017 4 +11 2593185 KCNQ1 C T 1 0.00658946 . . . . . . intronic . . . 0.0279 1.5 +11 2593416 KCNQ1 A G 58 0.328874 . . . . . . intronic . . . 0.2310 1.5 +11 2594037 KCNQ1 C T 1 0.000399361 . . . . 6.205e-05 . intronic . 0.0001 6.322e-05 . 6.5 +11 2594106 KCNQ1 C T 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0009 synonymous_SNV exonic . 0.0002 0.0004 0.0003 4 +11 2594268 KCNQ1 T G 3 0.00279553 . . . . 0.0063 . intronic . 0.0039 0.0068 0.0053 4 +11 2606519 KCNQ1 G A 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 9.048e-05 synonymous_SNV exonic . 0.0003 0.0001 6.668e-05 6.5 +11 2606621 KCNQ1 C T 8 0.00678914 . . . . . . intronic . . . 0.0113 1.5 +11 2609919 KCNQ1 A G 1 0.000199681 . . . . 1.526e-05 . intronic . . 8.978e-06 . 6.5 +11 2683152 KCNQ1OT1 T G 38 0.305112 . . . . 0.0938 . ncRNA_exonic . 0.0923 0.0911 0.0962 -2.5 +11 2683177 KCNQ1OT1 C T 4 0.0129792 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.0112 . ncRNA_exonic . 0.0138 0.0128 0.0136 -2.5 +11 2683329 KCNQ1OT1 C T 2 0.0191693 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.0005 . ncRNA_exonic . 0.0002 0.0004 6.668e-05 -2.5 +11 2683357 KCNQ1OT1 A G 88 0.519768 . . . . 0.4497 . ncRNA_exonic . 0.4637 0.4573 0.4670 -2.5 +11 2683361 KCNQ1OT1 C G 1 0.00139776 . . . . 0.0017 . ncRNA_exonic . 0.0034 0.0022 0.0015 0 +11 2790019 KCNQ1 G A 8 0.0908546 . . . . . . intronic . 0.0305 . 0.0256 1.5 +11 2790163 KCNQ1 T C 41 0.0461262 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Long_QT_syndrome|Cardiac_arrhythmia|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.1177 . intronic . 0.1172 0.1165 0.1083 1.5 +11 2797197 KCNQ1 G A 1 0.000199681 5.912 MedGen:CN517202 not_provided Uncertain_significance 9.86e-05 nonsynonymous_SNV exonic D . 4.522e-05 . 10.5 +11 2797237 KCNQ1 G A 35 0.180911 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.2836 synonymous_SNV exonic . 0.1932 0.1866 0.2029 1.5 +11 2797320 KCNQ1 A G 149 0.668331 . . . . 0.6840 . intronic . 0.6891 0.6784 0.6863 1.5 +11 2798305 KCNQ1 T C 54 0.223842 . . . . 0.2406 . intronic . 0.2302 0.2356 0.2468 1.5 +11 2798341 KCNQ1 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +11 2799211 KCNQ1 A G 1 0.000199681 0.782 . . . . nonsynonymous_SNV exonic D . . . 8.5 +11 2799299 KCNQ1 G T 9 0.0133786 . . . . 0.0484 . intronic . 0.0511 0.0514 0.0608 1.5 +11 2799369 KCNQ1 C G 7 0.0155751 . . . . . . intronic . . . 0.0276 1.5 +11 2799380 KCNQ1 G A 2 0.000399361 . . . . . . intronic . . . 0.0015 4 +11 2869002 KCNQ1 G A 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0009 0.0006 0.0004 4 +11 2869188 KCNQ1 C T 45 0.0832668 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|short_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.3658 synonymous_SNV exonic . 0.2328 0.2550 0.2676 1.5 +11 6625566 ILK A G 1 0.000399361 2.601 MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374 Primary_familial_hypertrophic_cardiomyopathy|not_specified Likely_benign 0.0032 nonsynonymous_SNV exonic T 0.0007 0.0021 0.0013 7.25 +11 6629332 ILK T C 1 0.000199681 3.622 MedGen:CN169374 not_specified Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T . 8.952e-06 . 8.5 +11 6629665 ILK C T 58 0.314696 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2634 synonymous_SNV exonic . 0.25 0.2605 0.2609 1.5 +11 6630028 ILK TC T 214 1 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign 1.0000 . intronic\x3bintronic . . 1.0000 1 1.5 +11 6630043 ILK C T 1 0.000199681 -0.079 . . . . . intronic\x3bintronic . . . . 6.5 +11 6630410 ILK T C 51 0.120807 . . . . 0.2542 . intronic . 0.2548 0.2530 0.2603 1.5 +11 6630524 ILK C T 1 0.000399361 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Benign 0.0009 . intronic . 0.0010 0.0008 0.0004 4.625 +11 6630833 ILK G A 59 0.347444 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2642 synonymous_SNV exonic . 0.2514 0.2615 0.2613 1.5 +11 6630962 ILK C T 1 0.000199681 . MedGen:CN169374 not_specified Benign 0.0003 synonymous_SNV exonic . 0.0002 0.0003 0.0002 6.5 +11 6631016 ILK C T 51 0.160144 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2594 synonymous_SNV exonic . 0.2647 0.2581 0.2689 4.5 +11 6631300 ILK G A 8 0.00579073 . . . . 0.0173 . intronic . 0.0177 0.0164 0.0124 1.5 +11 6631561 ILK A C 1 0.00279553 . . . . 0.0022 . intronic . 0.0015 0.0023 0.0021 4 +11 19204403 CSRP3 A G 43 0.155152 . . . . . . intronic . . . 0.1952 1.5 +11 19206426 CSRP3 A T 57 0.300919 . . . . . . intronic . . . 0.2400 1.5 +11 19207841 CSRP3 C T 28 0.0427316 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1124 synonymous_SNV exonic . 0.1073 0.1089 0.0981 1.5 +11 19209640 CSRP3 T C 1 0.00139776 . . . . 0.0032 . intronic . 0.0024 0.0031 0.0016 4 +11 19209912 CSRP3 T A 2 0.00239617 . . . . . . intronic . . . 0.0069 4 +11 19213986 CSRP3 A G 4 0.00179712 5.529 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1843808,OMIM:607482|MedGen:C2677491,OMIM:612124|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Dilated_cardiomyopathy_1M|Familial_hypertrophic_cardiomyopathy_12|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0054 0.0041 0.0046 12 +11 47353498 MYBPC3 G A 24 0.356629 . . . . . . intronic . 0.1747 . 0.1750 7.5 +11 47354068 MYBPC3 G A 24 0.341454 . MedGen:CN169374 not_specified Benign 0.1638 . intronic . 0.1646 0.1638 0.1754 7.5 +11 47354787 MYBPC3 C T 49 0.476238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3910 synonymous_SNV exonic . 0.3039 0.3187 0.3157 8.75 +11 47354851 MYBPC3 G C 1 0.000199681 1.231 MedGen:CN169374 not_specified Uncertain_significance . nonsynonymous_SNV exonic T . 1.099e-05 . 8.5 +11 47354905 MYBPC3 T C 24 0.0329473 . MedGen:CN169374 not_specified Benign 0.1510 . intronic . 0.1060 0.1074 0.1200 1.5 +11 47355233 MYBPC3 C G 1 0.000199681 7.255 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified Conflicting_interpretations_of_pathogenicity 4.546e-05 nonsynonymous_SNV exonic D . 5.403e-05 0 15.5 +11 47356644 MYBPC3 G C 7 0.0239617 -2.099 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign 5.151e-05 nonsynonymous_SNV exonic T . 0.0010 . 3.5 +11 47357416 MYBPC3 G A 4 0.0547125 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0528 . intronic . 0.0257 0.0239 0.0275 2.75 +11 47357437 MYBPC3 G T 1 0.000199681 0.220 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0009 nonsynonymous_SNV exonic T . 0.0003 0.0004 6 +11 47358997 MYBPC3 G A 4 0.048123 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0385 synonymous_SNV exonic . 0.0351 0.0385 0.0411 2.75 +11 47360053 MYBPC3 G C 4 0.0694888 . MedGen:C1861862,OMIM:115197|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_4|not_specified Benign 0.0392 . intronic . 0.0363 0.0393 0.0421 2.125 +11 47361011 MYBPC3 C T 1 0.000798722 . . . . . . intronic . 0.0038 . 0.0039 4 +11 47361164 MYBPC3 T A 1 0.000798722 . . . . 0.0081 . intronic . 0.0034 0.0056 0.0093 4 +11 47362465 MYBPC3 G C 25 0.340056 . . . . . . intronic . . . 0.1877 7.5 +11 47362642 MYBPC3 C T 6 0.00898562 . MedGen:CN169374 not_specified Benign 0.0272 . intronic\x3bintronic . 0.0192 0.0218 0.0229 1.5 +11 47364187 MYBPC3 C T 1 0.000199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . 0.0001 0.0003 0.0003 9 +11 47364762 MYBPC3 A G 214 0.964058 . MedGen:CN169374 not_specified Benign 0.9990 . intronic . 0.9982 0.9992 0.9991 1.5 +11 47365014 MYBPC3 C T 27 0.0782748 . MedGen:CN169374 not_specified Benign 0.1707 . intronic . 0.1174 0.1267 0.1174 1.5 +11 47365199 MYBPC3 G A 68 0.249601 . MedGen:CN169374 not_specified Benign 0.3310 . intronic . 0.3084 0.3074 0.2921 7.5 +11 47365214 MYBPC3 G A 14 0.0147764 . MedGen:CN169374 not_specified Benign 0.0420 . intronic . 0.0368 0.0418 0.0422 1.5 +11 47367738 MYBPC3 C A 1 0.000199681 . . . . . . intronic . . . . 6.5 +11 47367848 MYBPC3 C T 1 0.000998403 4.875 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 1.685e-05 nonsynonymous_SNV exonic T . 9.03e-06 0 8.5 +11 47367871 MYBPC3 C T 1 0.000798722 4.274 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1449563,OMIM:115200,Orphanet:ORPHA300751|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1A|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0078 nonsynonymous_SNV exonic T 0.0038 0.0056 0.0093 8.5 +11 47368153 MYBPC3 G T 2 0.00838658 . MedGen:CN169374 not_specified Benign 0.0257 . intronic . 0.0242 0.0255 0.0248 1.5 +11 47368860 MYBPC3 AAACC A 1 0.00139776 . . . . . . intronic . . . 0.0017 4 +11 47369443 MYBPC3 G A 26 0.0611022 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2120 synonymous_SNV exonic . 0.1184 0.1256 0.1173 2.75 +11 47369453 MYBPC3 G A 1 0.000199681 1.955 . . . . nonsynonymous_SNV exonic T . . . 8.5 +11 47370041 MYBPC3 T C 27 0.0670927 0.243 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1393 nonsynonymous_SNV exonic T 0.1263 0.1305 0.1209 7.75 +11 47370107 MYBPC3 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 4.313e-05 . intronic . . 3.859e-05 . 6.5 +11 47370150 MYBPC3 C T 1 0.000399361 . . . . . . intronic . . . . 6.5 +11 47371261 MYBPC3 C T 1 0.00239617 . . . . . . intronic . . . 0.0022 4 +11 47371330 MYBPC3 T C 1 0.00179712 1.738 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T 0.0012 0.0009 0.0008 6 +11 47371414 MYBPC3 C T 1 0.00199681 2.583 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0034 nonsynonymous_SNV exonic T 0.0034 0.0033 0.0026 11 +11 47371442 MYBPC3 G A 7 0.0249601 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0501 synonymous_SNV exonic . 0.0463 0.0478 0.0470 2.75 +11 47371484 MYBPC3 AG A 164 0.610823 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7343 . intronic\x3bintronic . 0.7248 0.7173 0.7226 2.75 +11 47371578 MYBPC3 G A 3 0.00838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0487 synonymous_SNV exonic . 0.0307 0.0318 0.0302 2.75 +11 47371598 MYBPC3 C T 21 0.0329473 4.662 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1861862,OMIM:115197|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1402 nonsynonymous_SNV exonic T 0.0864 0.0933 0.1009 4.75 +11 47371664 MYBPC3 C T 1 0.000199681 3.139 . . . 0.0001 . splicing . . . . 6.5 +11 47372741 MYBPC3 C A 2 0.000798722 . . . . 0.0027 . intronic . 0.0018 0.0015 0.0011 4 +11 47372749 MYBPC3 C G 1 0.0607029 . MedGen:CN169374 not_specified Benign 0.0311 . intronic . 0.0217 0.0263 0.0261 1.5 +11 74168330 KCNE3 A G 1 0.000199681 . . . . 7.637e-05 synonymous_SNV exonic . . 5.376e-05 0 2.5 +11 74168361 KCNE3 C T 1 0.000998403 2.265 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001663,MedGen:C1962976|MedGen:C2751089,OMIM:613119|MedGen:CN169374|MedGen:CN230736|MedGen:CN231077|MedGen:CN517202 Syncope|Ventricular_fibrillation|Brugada_syndrome_6|not_specified|Cardiovascular_phenotype|Periodic_paralysis|not_provided Conflicting_interpretations_of_pathogenicity 0.0044 nonsynonymous_SNV exonic D 0.0068 0.0047 0.0049 2 +11 74168411 KCNE3 A G 25 0.141174 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1151 synonymous_SNV exonic . 0.1084 0.1106 0.1314 -2.5 +11 111781003 CRYAB A T 1 0.000199681 . . . . 1.515e-05 . intronic . . 8.962e-06 . 6.5 +11 111781047 CRYAB A C 75 0.239816 -0.652 Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign 0.2914 . intronic T 0.3000 0.2894 0.2783 7.5 +11 111782284 CRYAB C T 4 0.0091853 . Human_Phenotype_Ontology:HP:0001115,MedGen:C1850191|MedGen:C1837317,OMIM:608810,Orphanet:ORPHA399058|MedGen:C3554649,OMIM:615184|MedGen:CN169374|MedGen:CN230736|MedGen:CN239446 Posterior_polar_cataract|Alpha-B_crystallinopathy|Dilated_cardiomyopathy_1II|not_specified|Cardiovascular_phenotype|Myofibrillar_Myopathy,_Dominant Benign 0.0232 synonymous_SNV exonic . 0.0226 0.0206 0.0210 2.125 +11 118011860 SCN4B G A 43 0.141973 . . . . . . intronic . . . 0.1839 -2.5 +11 118015832 SCN4B G A 8 0.0349441 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678484,OMIM:611819|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_10|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0398 synonymous_SNV exonic . 0.0374 0.0392 0.0372 -2.5 +11 118015959 SCN4B C G 2 0.000399361 . . . . 7.606e-05 . UTR5 . . 5.379e-05 . 2.5 +11 118023424 SCN4B G C 1 0.000199681 . MedGen:CN169374 not_specified Benign 4.059e-05 . UTR5 . . 0.0001 6.67e-05 2.5 +11 118037564 SCN2B G A 23 0.0780751 . . . . 0.1043 . UTR3 . 0.0928 0.1006 0.1047 -2.5 +11 118037569 SCN2B C T 1 0.000399361 . . . . 3e-05 . UTR3 . . 1.792e-05 . 2.5 +11 118037813 SCN2B G T 110 0.514377 . MedGen:CN169374 not_specified Benign 0.4739 . intronic . 0.4707 0.4661 0.4683 0.5 +11 118038741 SCN2B C T 3 0.251797 . . . . . . intronic . . . 0.0212 -2.5 +11 118039016 SCN2B G A 1 0.000199681 . MedGen:C3809312,OMIM:615378 Atrial_fibrillation,_familial,_14 Likely_benign . . intronic . . . . 2.5 +11 118039273 SCN2B T C 8 0.249601 . . . . 0.0156 . intronic . 0.0163 0.0132 0.0098 -2.5 +11 123504959 SCN3B C G 126 0.750599 . . . . 0.5550 . intronic . 0.5523 0.5519 0.5424 -2.5 +11 123508842 SCN3B A G 3 0.0958466 . . . . . . intronic . 0.0113 . 0.0146 -2.5 +11 123513161 SCN3B G A 25 0.0820687 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0915 synonymous_SNV exonic . 0.0896 0.0880 0.0882 -2.5 +11 123513341 SCN3B G A 1 0.000199681 . . . . 6.067e-05 synonymous_SNV exonic . 0.0002 5.447e-05 6.684e-05 2.5 +11 123524389 SCN3B A G 1 0.0443291 . . . . . . intronic . 0.0022 . 0.0023 -2.5 +11 123524411 SCN3B G A 32 0.142173 . . . . 0.1402 . intronic . 0.1395 0.1415 0.1368 -2.5 +11 128781287 KCNJ5 C T 1 0.000599042 5.122 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.952e-06 . 4 +11 128781339 KCNJ5 T C 188 0.869808 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8296 synonymous_SNV exonic . 0.8250 0.8274 0.8249 -2.5 +11 128781441 KCNJ5 C T 1 0.000199681 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign/Likely_benign 0.0003 synonymous_SNV exonic . 0.0009 0.0004 0.0004 0 +11 128781606 KCNJ5 C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 8.951e-06 0 2.5 +11 128781978 KCNJ5 T G 188 0.866214 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8277 synonymous_SNV exonic . 0.8216 0.8250 0.8212 0.5 +11 128782002 KCNJ5 T C 188 0.867013 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.8276 synonymous_SNV exonic . 0.8216 0.8248 0.8211 0.5 +11 128782012 KCNJ5 C G 213 0.995008 0.157 MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936|MedGen:CN230736 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism|Cardiovascular_phenotype Benign 0.9791 nonsynonymous_SNV exonic T 0.9820 0.9792 0.9776 -0.5 +11 128782112 KCNJ5 C T 3 0.076278 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign 0.0110 . intronic . 0.0083 0.0100 0.0073 -2.5 +11 128786294 KCNJ5 G A 179 0.735823 . MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN229602,Orphanet:ORPHA235936 Romano-Ward_syndrome|not_specified|Familial_hyperaldosteronism Benign 0.7338 . intronic . 0.7279 0.7323 0.7287 -2.5 +12 2224511 CACNA1C C T 5 0.0117812 . 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:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0383 synonymous_SNV exonic . 0.0235 0.0265 0.0218 1.5 +12 2224553 CACNA1C G A 1 0.013778 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0007 synonymous_SNV exonic . 0.0005 0.0005 0.0001 1.5 +12 2229476 CACNA1C G A 6 0.0253594 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign 0.0265 . intronic . 0.0265 0.0266 0.0219 1.5 +12 2558186 CACNA1C G A 54 0.120407 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.2489 synonymous_SNV exonic . 0.2146 0.2094 0.2123 1.5 +12 2558292 CACNA1C C T 1 0.000199681 . . . . 0 . intronic . . 1.81e-05 . 6.5 +12 2558298 CACNA1C G A 63 0.260184 . MedGen:CN169374 not_specified Benign 0.2724 . intronic . 0.2386 0.2492 0.2561 1.5 +12 2558300 CACNA1C T C 63 0.26258 . MedGen:CN169374 not_specified Benign 0.2722 . intronic . 0.2332 0.2502 0.2561 1.5 +12 2602288 CACNA1C C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +12 2602307 CACNA1C C G 11 0.0876597 . . . . 0.0523 . intronic\x3bintronic . 0.0491 0.0498 0.0488 1.5 +12 2613521 CACNA1C A G 96 0.546326 . . . . . . intronic . . . 0.3699 1.5 +12 2613716 CACNA1C C T 26 0.0782748 . MedGen:CN169374 not_specified Benign 0.0824 . intronic . 0.0868 0.0817 0.0716 1.5 +12 2614070 CACNA1C G T 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0034 synonymous_SNV exonic . 0.0034 0.0033 0.0027 4 +12 2621912 CACNA1C G A 20 0.0597045 . . . . . . intronic . . . 0.0440 1.5 +12 2622016 CACNA1C G C 1 0.000199681 5.692 . . . 1.598e-05 nonsynonymous_SNV exonic D . 8.984e-06 . 10.5 +12 2659082 CACNA1C G T 59 0.294928 . . . . 0.3105 . intronic . 0.2256 0.2304 0.2286 1.5 +12 2666051 CACNA1C T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +12 2675802 CACNA1C G A 5 0.0561102 . . . . . . intronic . . . 0.0113 1.5 +12 2676683 CACNA1C C T 166 0.86222 . . . . . . intronic . . . 0.8409 1.5 +12 2690702 CACNA1C G A 127 0.586661 . . . . . . intronic . . . 0.7194 1.5 +12 2692186 CACNA1C T G 153 0.632588 . . . . . . intronic . . . 0.7728 1.5 +12 2693848 CACNA1C G A 1 0.00339457 . . . . . . intronic . . . 0.0003 4 +12 2694470 CACNA1C G A 1 0.0415335 . . . . . . intronic . . . 0.0006 1.5 +12 2694638 CACNA1C C T 25 0.145567 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1305 synonymous_SNV exonic . 0.0786 0.0851 0.0765 1.5 +12 2694651 CACNA1C C T 2 0.00159744 4.997 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0061 nonsynonymous_SNV exonic D 0.0047 0.0045 0.0053 6 +12 2695136 CACNA1C C T 2 0.00638978 . . . . . . intronic . 0.0189 . 0.0209 1.5 +12 2706720 CACNA1C G C 204 0.951278 . . . . . . intronic . 0.9739 . 0.9762 1.5 +12 2706781 CACNA1C G A 1 0.000599042 . . . . . . intronic . . . 0.0001 4 +12 2714835 CACNA1C C T 1 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN517202 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0014 . intronic . 0.0012 0.0009 0.0006 4 +12 2715687 CACNA1C A G 33 0.0535144 . . . . . . intronic . . . 0.1083 1.5 +12 2715941 CACNA1C G A 2 0.00678914 . . . . . . intronic . . . 0.0002 4 +12 2717661 CACNA1C C A 1 0.000199681 . . . . 0.0001 . intronic . . 6.191e-05 6.664e-05 6.5 +12 2719934 CACNA1C C T 33 0.052516 . . . . . . intronic . . . 0.1078 1.5 +12 2720988 CACNA1C T C 60 0.261781 . . . . . . intronic . . . 0.1895 1.5 +12 2721137 CACNA1C C T 60 0.259185 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.1852 synonymous_SNV exonic . . 0.1838 0.1901 1.5 +12 2743567 CACNA1C C T 1 0.000199681 . . . . 0.0002 . intronic\x3bintronic . 0.0001 0.0002 0.0001 6.5 +12 2743650 CACNA1C A AT 48 0.204273 . . . . . . intronic . . . 0.2764 1.5 +12 2757756 CACNA1C T C 153 0.666933 . . . . . . intronic . . . 0.8137 1.5 +12 2757769 CACNA1C T C 154 0.666534 . . . . . . intronic . . . 0.8138 1.5 +12 2757782 CACNA1C C T 152 0.652955 . . . . . . intronic . . . 0.7998 1.5 +12 2760708 CACNA1C G A 148 0.670727 . . . . 0.7639 . intronic . 0.7671 0.7669 0.7782 1.5 +12 2760898 CACNA1C C T 13 0.023762 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0683 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0673 0.0672 0.0676 1.5 +12 2760965 CACNA1C GA G 79 0.382987 . . . . 0.2915 . intronic\x3bintronic . 0.2809 0.2910 0.2618 1.5 +12 2760970 CACNA1C G A 132 0.553914 . . . . 0.7222 . intronic\x3bintronic . 0.7204 0.7114 0.7341 1.5 +12 2763143 CACNA1C G T 3 0.0119808 . . . . . . intronic . . . 0.0020 1.5 +12 2774833 CACNA1C T C 3 0.0385383 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0031 synonymous_SNV exonic . 0.0035 0.0033 0.0027 1.5 +12 2778044 na G A 1 0.000199681 . . . . . . ncRNA_exonic . . . 0.0003 2.5 +12 2778061 na C G 1 0.0738818 . . . . 0.0008 . ncRNA_exonic . 0.0009 0.0010 0.0008 -2.5 +12 2778272 na G GC 11 0.104633 . . . . . . ncRNA_intronic . . . 0.0388 -2.5 +12 2786193 na A G 1 0.000199681 . . . . . . ncRNA_exonic . . . . 2.5 +12 2787058 na C T 9 0.0802716 . . . . 0.0346 . ncRNA_exonic . 0.0346 0.0368 0.0352 -2.5 +12 2788615 CACNA1C C T 3 0.00299521 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0261 synonymous_SNV exonic . 0.0072 0.0094 0.0130 1.5 +12 2788637 CACNA1C G A 1 0.000199681 4.307 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic D 0.0001 0.0003 0.0003 6 +12 2788732 CACNA1C C A 2 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0020 0.0019 0.0017 4 +12 2788810 CACNA1C C T 11 0.019369 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0675 synonymous_SNV exonic . 0.0613 0.0646 0.0690 1.5 +12 2788879 CACNA1C G A 137 0.526358 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign 0.7349 synonymous_SNV exonic . 0.7295 0.7229 0.7396 1.5 +12 2788925 CACNA1C C A 1 0.000199681 . . . . 7.272e-05 synonymous_SNV exonic . . 4.482e-05 . 6.5 +12 2789787 na A G 13 0.189097 . . . . 0.0470 . ncRNA_intronic . 0.0338 0.0476 0.0435 -2.5 +12 2789789 na C G 13 0.189097 . . . . 0.0474 . ncRNA_intronic . 0.0340 0.0477 0.0436 -2.5 +12 2791130 CACNA1C C T 170 0.669129 0.086 MedGen:CN169374 not_specified Benign 0.8109 nonsynonymous_SNV exonic T 0.8213 0.8133 0.8199 3.5 +12 2791132 CACNA1C A G 174 0.770567 0.106 MedGen:CN169374 not_specified Benign 0.8198 nonsynonymous_SNV exonic T 0.8310 0.8219 0.8270 3.5 +12 2791205 CACNA1C A G 214 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . 1 1 1 3.5 +12 2791722 CACNA1C C T 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Likely_benign 0.0008 synonymous_SNV exonic . 0.0006 0.0009 0.0005 4 +12 2794977 CACNA1C G A 4 0.0359425 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|Timothy_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0299 synonymous_SNV exonic . . 0.0237 0.0206 1.5 +12 2795023 na C T 1 0.0159744 . MedGen:C0003811,OMIM:115000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1832916,OMIM:601005,Orphanet:ORPHA65283|MedGen:CN169374 Cardiac_arrhythmia|Brugada_syndrome|Timothy_syndrome|not_specified Benign/Likely_benign 7.753e-05 . ncRNA_intronic . . 0.0001 0.0001 -2.5 +12 2795255 na C T 199 0.770767 . . . . . . ncRNA_intronic . . . 0.9556 -2.5 +12 2797824 CACNA1C C T 1 0.000399361 0.108 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Uncertain_significance 4.617e-05 nonsynonymous_SNV exonic T . 9.026e-05 0.0001 8.5 +12 2798006 na C T 1 0.000399361 . . . . . . ncRNA_intronic . . . 0.0009 0 +12 5153694 KCNA5 C T 5 0.0147764 . MedGen:C2677106,OMIM:612240|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|Familial_atrial_fibrillation Benign/Likely_benign 0.0390 synonymous_SNV exonic . 0.0411 0.0403 0.0411 -2.5 +12 5153820 KCNA5 G T 1 0.000199681 . . . . 1.512e-05 synonymous_SNV exonic . . 8.963e-06 . 2.5 +12 5154064 KCNA5 G A 2 0.0081869 1.589 MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.0120 nonsynonymous_SNV exonic T 0.0127 0.0127 0.0183 -0.5 +12 5154232 KCNA5 C T 1 0.00139776 -2.109 MedGen:C2677106,OMIM:612240|MedGen:CN231063 Atrial_fibrillation,_familial,_7|altered_potassium_channel_function Conflicting_interpretations_of_pathogenicity 0.0031 nonsynonymous_SNV exonic D 0.0028 0.0040 0.0035 2 +12 5154242 KCNA5 C T 1 0.00319489 1.204 MedGen:C2677106,OMIM:612240|MedGen:CN169374 Atrial_fibrillation,_familial,_7|not_specified Benign 0.0056 nonsynonymous_SNV exonic T 0.0064 0.0059 0.0055 2 +12 5154277 KCNA5 G T 1 0.000199681 5.771 . . . 1.519e-05 nonsynonymous_SNV exonic D . 9.039e-06 . 6.5 +12 5154462 KCNA5 T C 214 0.98103 . MedGen:C2677106,OMIM:612240|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334 Atrial_fibrillation,_familial,_7|not_specified|Familial_atrial_fibrillation Benign/Likely_benign 0.9999 synonymous_SNV exonic . 0.9999 0.9999 0.9999 -2.5 +12 5155046 KCNA5 G A 2 0.00319489 0.664 MedGen:C2677106,OMIM:612240|MedGen:CN029323,OMIM:601144|MedGen:CN169374 Atrial_fibrillation,_familial,_7|Brugada_syndrome_1|not_specified Benign 0.0083 nonsynonymous_SNV exonic T 0.0093 0.0097 0.0080 2 +12 5155130 KCNA5 A G 1 0.000199681 5.406 . . . 1.561e-05 nonsynonymous_SNV exonic D . 9.096e-06 . 6.5 +12 21918616 KCNJ8 G A 1 0.000199681 . . . . 0.0001 . UTR3 . 0.0002 0.0001 0 6.5 +12 21918667 KCNJ8 G A 1 0.000199681 2.046 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0025 nonsynonymous_SNV exonic T 0.0022 0.0008 0.0005 6 +12 21926614 KCNJ8 C T 1 0.000199681 . . . . . . UTR5 . . . . 6.5 +12 21960458 ABCC9 T C 1 0.000199681 . . . . 1.504e-05 . intronic . . 9.002e-06 . 6.5 +12 21962721 ABCC9 G A 1 0.000998403 . . . . . . intronic . . . 6.668e-05 4 +12 21965173 ABCC9 CTTAG C 4 0.00638978 . . . . . . intronic . . . 0.0083 5 +12 21971087 ABCC9 A G 1 0.000998403 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Cardiomyopathy|Dilated_cardiomyopathy_1O|not_specified Benign 0.0031 synonymous_SNV exonic . 0.0031 0.0030 0.0033 4.625 +12 21981916 ABCC9 G A 1 0.000199681 . . . . 1.498e-05 synonymous_SNV exonic . . 8.954e-06 . 6.5 +12 21991197 ABCC9 T C 4 0.0115815 . . . . . . intronic . . . 0.0344 1.5 +12 21995253 ABCC9 G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +12 21997678 ABCC9 G T 1 0.000199681 . . . . 3.001e-05 . intronic . . 1.796e-05 . 6.5 +12 21997874 ABCC9 C T 5 0.0501198 . . . . 0.0366 . intronic . 0.0420 0.0382 0.0344 1.5 +12 21998493 ABCC9 A C 1 0.00239617 . . . . 0.0021 . intronic . 0.0007 0.0004 6.665e-05 4 +12 22001255 ABCC9 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 +12 22001272 ABCC9 C T 5 0.0117812 . . . . . . intronic . . . 0.0159 1.5 +12 22005003 ABCC9 T G 84 0.334665 . MedGen:CN169374 not_specified Benign 0.4121 . intronic . 0.4124 0.4122 0.4028 1.5 +12 22005167 ABCC9 C T 2 0.00259585 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0093 . intronic . 0.0098 0.0096 0.0139 1.5 +12 22005258 ABCC9 G T 13 0.0171725 . . . . 0.0510 . intronic . 0.0512 0.0509 0.0456 1.5 +12 22005510 ABCC9 A G 214 0.994609 . . . . . . intronic . . . 0.9999 1.5 +12 22015858 ABCC9 G A 1 0.000199681 . . . . 1.627e-05 . intronic . 0.0001 9.094e-06 . 6.5 +12 22016004 ABCC9 GA AA,GAA,G 1 0.360423 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4122 . intronic . . 0.4112 0.3188 1.5 +12 22017278 ABCC9 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +12 22017398 ABCC9 C T 1 0.000199681 3.625 . . . 3.011e-05 nonsynonymous_SNV exonic D . 1.797e-05 . 8.5 +12 22017410 ABCC9 C T 1 0.00399361 2.389 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001658,MedGen:C0027051,SNOMED_CT:22298006|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiomyopathy|Myocardial_infarction|Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0107 nonsynonymous_SNV exonic T 0.0132 0.0115 0.0089 4.75 +12 22017422 ABCC9 A G 214 0.998203 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 1 . intronic . 1 1 1 1.5 +12 22017428 ABCC9 C G 1 0.000199681 . . . . 3.01e-05 . intronic . 0.0001 2.7e-05 . 6.5 +12 22017486 ABCC9 C G 214 0.998203 . . . . . . intronic . 1 . 1 1.5 +12 22025671 ABCC9 A G 1 0.000798722 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1837839,OMIM:608569|MedGen:CN169374 Hypertrichotic_osteochondrodysplasia|Brugada_syndrome|Dilated_cardiomyopathy_1O|not_specified Benign/Likely_benign 0.0037 . intronic . 0.0035 0.0041 0.0047 5.25 +12 22035615 ABCC9 A T 3 0.0391374 . . . . . . intronic . . . 0.0158 1.5 +12 22035847 ABCC9 T C 1 0.000199681 . . . . 3.016e-05 . intronic . . 1.803e-05 0 6.5 +12 22035873 ABCC9 C T 150 0.534744 . . . . . . intronic . . . 0.7826 1.5 +12 22035883 ABCC9 T G 53 0.421925 . . . . . . intronic . . . 0.2001 1.5 +12 22040784 ABCC9 C A 2 0.000399361 2.197 MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1O|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0010 0.0004 0.0005 8.5 +12 22040854 ABCC9 T G 1 0.000199681 2.400 MedGen:C1837839,OMIM:608569 Dilated_cardiomyopathy_1O Uncertain_significance 3.012e-05 nonsynonymous_SNV exonic T 0.0001 2.7e-05 6.66e-05 8.5 +12 22047151 ABCC9 G T 214 0.997804 . MedGen:CN169374 not_specified Benign 1.0000 . intronic . 1 1 1 1.5 +12 22047174 ABCC9 C T 166 0.686302 . . . . . . intronic . . . 0.6838 1.5 +12 22059121 ABCC9 C T 2 0.000399361 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:C1837839,OMIM:608569|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|Dilated_cardiomyopathy_1O|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0006 synonymous_SNV exonic . 0.0002 0.0005 0.0002 6.5 +12 22059244 ABCC9 A G 1 0.000199681 . . . . 2.888e-05 . intronic . . 1.086e-05 . 6.5 +12 22063115 ABCC9 A G 214 0.997204 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 1.0000 synonymous_SNV exonic . 1 1 1 1.5 +12 22063251 ABCC9 CA C 72 0.375799 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Cardiomyopathy|Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4473 . intronic . . 0.4459 0.4674 1.5 +12 22063737 ABCC9 G T 214 0.991613 . MedGen:CN169374 not_specified Benign 0.9998 . intronic . 0.9998 0.9999 0.9997 1.5 +12 22063749 ABCC9 T C 214 0.991613 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.9998 . intronic . 0.9998 0.9999 0.9997 1.5 +12 22063971 ABCC9 A G 154 0.667332 . . . . . . intronic . . . 0.6021 1.5 +12 22068591 ABCC9 C T 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0001 . intronic . 0.0001 0.0002 . 6.5 +12 22068849 ABCC9 G T 148 0.644768 . MedGen:C0795905,OMIM:239850,Orphanet:ORPHA1517|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736|MedGen:CN239310 Hypertrichotic_osteochondrodysplasia|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.6025 . intronic . 0.5925 0.5915 0.5917 1.5 +12 22078838 ABCC9 T G 155 0.701677 . MedGen:CN169374 not_specified Benign 0.6172 . intronic . 0.6074 0.6074 0.6033 1.5 +12 22089425 ABCC9 A G 1 0.00199681 . . . . 0.0098 . intronic . 0.0088 0.0089 0.0073 4 +12 25362777 KRAS A G 46 0.175519 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign 0.2216 synonymous_SNV exonic . 0.2160 0.2223 0.2119 -2.5 +12 25362854 KRAS C T 1 0.0836661 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign/Likely_benign 0.0060 . intronic . 0.0049 0.0044 0.0030 -2.5 +12 25368462 KRAS C T 214 0.997604 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 1 synonymous_SNV exonic . 1 1 1 -2.5 +12 25398162 KRAS A C 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0031 . intronic . 0.0031 0.0027 0.0017 0 +12 32945486 PKP2 G T 6 0.0339457 . . . . . . intronic\x3bintronic . 0.0283 . 0.0253 1.5 +12 32945495 PKP2 C T 143 0.450479 . . . . . . intronic\x3bintronic . . . 0.6571 1.5 +12 32945721 PKP2 G T 143 0.45028 . . . . . . intronic . 0.6760 . 0.6576 1.5 +12 32949029 PKP2 A AG 23 0.318291 . MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1396 . intronic . 0.1393 0.1401 0.1401 1.5 +12 32949101 PKP2 G T 2 0.000599042 7.211 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic T 0.0006 0.0010 0.0005 6 +12 32949252 PKP2 AC A 23 0.304912 . MedGen:CN169374 not_specified Benign 0.1115 . intronic . 0.1207 0.0915 0.1204 1.5 +12 32974245 PKP2 C T 177 0.591653 . MedGen:CN169374 not_specified Benign 0.8166 . intronic . 0.8183 0.8167 0.8163 1.5 +12 32974352 PKP2 G A 1 0.000199681 7.044 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 0.0002 6.664e-05 10.5 +12 32974523 PKP2 C T 2 0.00399361 . . . . . . intronic . . . 0.0113 1.5 +12 32977103 PKP2 G GA 2 0.00219649 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign 0.0052 . intronic . 0.0044 0.0043 0.0055 4 +12 32994144 PKP2 A G 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 3.023e-05 . intronic . 0.0001 1.812e-05 . 6.5 +12 32994180 PKP2 G T 1 0.000199681 . . . . 1.519e-05 . intronic . . 1.848e-05 . 6.5 +12 33003918 PKP2 A G 1 0.00279553 . MedGen:C1836906,OMIM:609040|MedGen:CN169374 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified Benign/Likely_benign 0.0035 . intronic . 0.0030 0.0039 0.0040 4 +12 33021934 PKP2 A G 37 0.151358 0.112 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2099 nonsynonymous_SNV exonic T 0.2301 0.2200 0.2192 3.5 +12 33030802 PKP2 T C 1 0.000998403 -1.051 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0029 nonsynonymous_SNV exonic T 0.0022 0.0010 0.0007 8.5 +12 33031309 PKP2 T C 1 0.000199681 0.338 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0013 6 +12 33031799 PKP2 A G 1 0.00179712 . . . . . . intronic . . . 0.0075 4 +12 33049590 PKP2 C T 2 0.00299521 6.871 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1836906,OMIM:609040|MedGen:CN169374|MedGen:CN230736|MedGen:CN232456|MedGen:CN239181|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_9|not_specified|Cardiovascular_phenotype|Dysplasia,_arrhythmogenic_right_ventricular|Cardiomyopathy,_ARVC|not_provided Benign/Likely_benign 0.0231 nonsynonymous_SNV exonic D 0.0068 0.0097 0.0077 5.5 +12 98909876 TMPO C T 1 0.000199681 . . . . 3.902e-05 synonymous_SNV exonic . . 2.612e-05 . 6.5 +12 98925650 TMPO G T 110 0.530351 . . . . 0.5549 . intronic . 0.5688 0.5540 0.5630 1.5 +12 98926985 TMPO C G 1 0.0299521 3.863 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C2674876,OMIM:610168|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Cardiomyopathy|Loeys-Dietz_syndrome_2|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0013 nonsynonymous_SNV exonic T 0.0017 0.0007 0.0012 3.5 +12 98927147 TMPO C G 1 0.000199681 5.570 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.962e-06 . 8.5 +12 98927278 TMPO T G 1 0.000199681 0.194 . . . 8.998e-05 nonsynonymous_SNV exonic T 0.0001 7.168e-05 . 8.5 +12 98927830 TMPO C G 29 0.0589058 1.914 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0989 nonsynonymous_SNV exonic T 0.0965 0.0986 0.0957 9.5 +12 98938894 TMPO T C 1 0.000199681 . . . . . . intronic . . . 7.208e-05 6.5 +12 98938907 TMPO G T 99 0.444089 . . . . . . intronic . . . 0.0115 1.5 +12 98938911 TMPO T TG 4 0.0425319 . . . . . . intronic . . . 0.0143 1.5 +12 98940228 TMPO A AT 23 0.086262 . MedGen:CN169374 not_specified Benign 0.0751 . intronic . 0.0840 0.0760 0.0844 1.5 +12 98940250 TMPO A G 1 0.000199681 . . . . 0.0001 . intronic . 0.0001 9.891e-05 . 6.5 +12 98940289 TMPO T A 3 0.00199681 . . . . . . intronic . . . 0.0038 4 +12 98941637 TMPO A G 2 0.00279553 . MedGen:CN169374 not_specified Likely_benign 0.0050 . UTR3 . 0.0059 0.0050 0.0037 4 +12 111350807 MYL2 G A 3 0.00439297 . . . . . . intronic . . . 0.0180 1.5 +12 111350999 MYL2 G A,T 3 0.00439297 . . . . 0.0142 . intronic\x3bintronic . . 0.0155 0.0181 1.5 +12 111351002 MYL2 CA C 1 0.0449281 . . . . 0.0004 . intronic\x3bintronic . 0.0005 0.0004 0.0002 1.5 +12 111351003 MYL2 A AG 11 0.10024 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Benign 0.0702 . intronic\x3bintronic . 0.0664 0.0653 0.0729 2.125 +12 111351029 MYL2 TC T 57 0.252596 . MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_10|not_specified|not_provided Benign 0.2953 . intronic\x3bintronic . 0.3138 0.3028 0.3084 2.125 +12 111351186 MYL2 C T 11 0.102636 . MedGen:CN517202 not_provided not_provided . . intronic . 0.0644 . 0.0727 1.5 +12 111351204 MYL2 T G 3 0.00439297 . . . . . . intronic . . . 0.0180 1.5 +12 111351932 MYL2 C A 3 0.00439297 . . . . . . intronic . . . 0.0181 1.5 +12 111351937 MYL2 C T 11 0.0982428 . . . . . . intronic . . . 0.0730 1.5 +12 111351973 MYL2 C CAG 3 0.00539137 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1834460,OMIM:608758 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10 Benign 0.0141 . intronic . 0.0134 0.0154 0.0181 2.125 +12 111353556 MYL2 A G 15 0.115216 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1834460,OMIM:608758|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_10|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0848 synonymous_SNV exonic . 0.0801 0.0873 0.0908 2.75 +12 111357074 MYL2 T A 15 0.166134 . . . . . . intronic . . . 0.0909 1.5 +12 111358234 MYL2 G A 3 0.0207668 . . . . . . intronic . 0.0116 . 0.0143 1.5 +12 111358252 MYL2 C G 2 0.00119808 . . . . . . intronic . . . 0.0019 4 +12 111358266 MYL2 C T 3 0.0155751 . . . . . . intronic . 0.0116 . 0.0145 1.5 +12 111358423 MYL2 A G 1 0.000199681 . . . . . . upstream . . . . 6.5 +12 112856954 PTPN11 G C 2 0.0632987 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.0111 . intronic . . 0.0139 0.0180 0.5 +12 112856983 PTPN11 C A 2 0.0453275 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign . . intronic . . . 0.0180 0.5 +12 112888140 PTPN11 C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 8.993e-06 . 2.5 +12 112891203 PTPN11 G C 2 0.00599042 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Rasopathy|not_specified Benign 0.0145 . intronic . 0.0127 0.0155 0.0147 -2.5 +12 112893675 PTPN11 GTTT GTT 104 . . . . . . . intronic . . . . 7 +12 112910723 PTPN11 A G 1 0.000199681 . . . . 0.0006 . intronic . 0.0006 0.0006 0.0007 0 +12 112915434 PTPN11 C T 11 0.0365415 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.0790 . intronic . 0.0741 0.0820 0.0795 3.5 +12 112919869 PTPN11 C A 1 0.0429313 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C0175704,Orphanet:ORPHA500|MedGen:C0410530,OMIM:156250,Orphanet:ORPHA2499,SNOMED_CT:205481009|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Noonan_syndrome_with_multiple_lentigines|Metachondromatosis|Rasopathy|not_specified Benign/Likely_benign 0.0105 . intronic . 0.0107 0.0109 0.0166 0.5 +12 114793297 TBX5 T C 3 0.0806709 . MedGen:C0265264,OMIM:142900,SNOMED_CT:19092004|MedGen:CN169374 Holt-Oram_syndrome|not_specified Benign 0.0050 . UTR3 . 0.0028 0.0041 0.0047 -2.5 +12 114803927 TBX5 A G 1 0.000798722 -0.076 . . . 0 . intronic T . 0 0 0 +12 114803954 TBX5 G A 1 0.00239617 -0.054 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign 0.0081 . intronic T 0.0097 0.0091 0.0093 0 +12 114832510 TBX5 C A 129 0.528754 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.6267 . intronic . 0.6307 0.6284 0.6119 -2.5 +12 114841589 TBX5 G A 2 0.000798722 5.798 . . . 4.599e-05 nonsynonymous_SNV exonic D . 2.742e-05 . 4 +14 23851325 MYH6 G A 1 0.0485224 . . . . . . intronic . 0.0041 . 0.0043 1.5 +14 23851400 MYH6 C T 30 0.122005 . . . . . . intronic . . . 0.1154 4.5 +14 23852497 MYH6 T C 1 0.0848642 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0035 synonymous_SNV exonic . 0.0069 0.0041 0.0046 2.75 +14 23852537 MYH6 T G 19 0.240415 . . . . 0.0070 . intronic . . 0.0387 0.0265 1.5 +14 23852541 MYH6 A G 19 0.241214 . . . . 0.0061 . intronic . . 0.0601 0.0206 1.5 +14 23852545 MYH6 T G 18 0.240016 . . . . 0.0677 . intronic . . 0.1690 0.0214 1.5 +14 23852548 MYH6 G A 3 0.0523163 . . . . 0.0008 . intronic . . . . 1.5 +14 23852550 MYH6 G A 9 0.141573 . . . . 0.0132 . intronic . . 0.0128 0.0001 1.5 +14 23853629 MYH6 T C 75 0.229633 . MedGen:CN169374 not_specified Benign 0.2675 . intronic . 0.2644 0.2638 0.2396 1.5 +14 23853739 MYH6 C T 1 0.000399361 1.468 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0003 0.0002 8.5 +14 23853740 MYH6 C T 1 0.000399361 0.952 . . . 0.0003 nonsynonymous_SNV exonic T . 0.0003 0.0002 8.5 +14 23854155 MYH6 G A 29 0.0363419 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1066 synonymous_SNV exonic . 0.1158 0.1089 0.1111 4.5 +14 23854272 MYH6 T C 19 0.072484 . MedGen:CN169374 not_specified Benign 0.0877 . intronic . 0.0844 0.0831 0.0785 4.5 +14 23854324 MYH6 A G 124 0.488019 . . . . . . intronic . . . 0.4516 1.5 +14 23855320 MYH6 G A 29 0.0365415 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1067 synonymous_SNV exonic . 0.1159 0.1090 0.1111 4.5 +14 23855357 MYH6 T A 1 0.0489217 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0033 . intronic . 0.0059 0.0039 0.0043 1.5 +14 23855478 MYH6 C G 29 0.0365415 . MedGen:CN169374 not_specified Benign 0.1060 . intronic . 0.1149 0.1083 0.1110 4.5 +14 23855511 MYH6 C T 3 0.00539137 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0136 . intronic . 0.0109 0.0125 0.0130 1.5 +14 23855569 MYH6 A G 124 0.492812 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.4821 synonymous_SNV exonic . 0.4855 0.4772 0.4524 1.5 +14 23855645 MYH6 A G 1 0.048722 1.714 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0031 nonsynonymous_SNV exonic T 0.0019 0.0031 0.0045 4.75 +14 23855705 MYH6 T A 1 0.0491214 1.421 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0032 nonsynonymous_SNV exonic T 0.0034 0.0031 0.0042 4.75 +14 23855711 MYH6 T C 1 0.000599042 4.594 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|not_provided Uncertain_significance 4.495e-05 nonsynonymous_SNV exonic D 0.0001 3.58e-05 6.679e-05 6 +14 23855849 MYH6 C T 74 0.235224 . MedGen:CN169374 not_specified Benign 0.2676 . intronic . 0.2634 0.2645 0.2387 1.5 +14 23856714 MYH6 G A 14 0.019369 . . . . 0.0409 . intronic . 0.0417 0.0379 0.0341 1.5 +14 23856861 MYH6 C T 1 0.0325479 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0034 synonymous_SNV exonic . 0.0057 0.0040 0.0043 2.75 +14 23856896 MYH6 A G 96 0.471645 . MedGen:CN169374 not_specified Benign 0.4971 . intronic . 0.4965 0.4907 0.5003 1.5 +14 23857100 MYH6 C T 1 0.000199681 . . . . 4.528e-05 synonymous_SNV exonic . . 4.522e-05 . 6.5 +14 23857351 MYH6 G A 95 0.419728 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3592 . intronic . 0.3660 0.3605 0.3456 1.5 +14 23858008 MYH6 C T 1 0.000998403 . . . . . . intronic . . . 0.0030 4 +14 23858232 MYH6 C T 30 0.0347444 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1103 synonymous_SNV exonic . 0.1172 0.1116 0.1166 4.5 +14 23858275 MYH6 G C 1 0.0279553 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0073 . intronic . . 0.0073 0.0074 1.5 +14 23858697 MYH6 C G 3 0.00419329 6.301 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0026 nonsynonymous_SNV exonic D 0.0044 0.0029 0.0027 9.25 +14 23859551 MYH6 G C 1 0.000199681 5.232 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 9.39e-05 . 10.5 +14 23859610 MYH6 C T 35 0.0728834 5.149 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1217 nonsynonymous_SNV exonic T . 0.1183 0.1101 3.5 +14 23859714 MYH6 C T 10 0.0992412 . . . . . . intronic . . . 0.0687 1.5 +14 23861811 MYH6 A G 87 0.3748 0.873 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3635 nonsynonymous_SNV exonic T 0.3737 0.3631 0.3678 3.5 +14 23862710 MYH6 C T 2 0.00419329 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0129 synonymous_SNV exonic . 0.0120 0.0113 0.0151 2.75 +14 23862783 MYH6 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +14 23862785 MYH6 A T 1 0.000199681 . . . . . . intronic . . . . 6.5 +14 23863152 MYH6 A G 4 0.0585064 . . . . 0.0114 . intronic . 0.0099 0.0103 0.0073 1.5 +14 23863247 MYH6 A G 1 0.000199681 . . . . 1.499e-05 . intronic . . 3.595e-05 . 6.5 +14 23865885 MYH6 G A 84 0.367812 . MedGen:CN169374 not_specified Benign 0.3548 . intronic . 0.3628 0.3529 0.3604 1.5 +14 23866146 MYH6 G C 11 0.0325479 . . . . 0.0144 . intronic . 0.0124 0.0122 0.0097 1.5 +14 23866189 MYH6 G A 11 0.0339457 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0146 synonymous_SNV exonic . 0.0127 0.0124 0.0097 2.75 +14 23866713 MYH6 A G 73 0.30651 . MedGen:CN169374 not_specified Benign 0.3152 . intronic . 0.3187 0.3109 0.3251 1.5 +14 23866872 MYH6 C G 2 0.000399361 . . . . 0.0006 . intronic . . 0.0005 0.0005 4 +14 23866925 MYH6 G C 3 0.0499201 . . . . . . intronic . . . 0.0061 1.5 +14 23868285 MYH6 G A 64 0.16873 . MedGen:CN169374 not_specified Benign 0.2590 . intronic . 0.2597 0.2566 0.2606 1.5 +14 23869665 MYH6 CA C 1 0.00379393 . . . . 0.0105 . intronic . 0.0118 0.0105 0.0091 1.5 +14 23869993 MYH6 G A 26 0.0321486 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0668 synonymous_SNV exonic . 0.0620 0.0639 0.0547 1.5 +14 23871753 MYH6 G A 1 0.000199681 4.859 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.954e-06 . 8.5 +14 23871840 MYH6 G T 1 0.00119808 . . . . 0.0066 . intronic\x3bintronic . 0.0060 0.0072 0.0058 4 +14 23871909 MYH6 G A 3 0.0423323 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0102 synonymous_SNV exonic . 0.0087 0.0092 0.0061 2.75 +14 23871999 MYH6 C T 2 0.0311502 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0006 synonymous_SNV exonic . 0.0007 0.0006 0.0010 2.75 +14 23872666 MYH6 T C 159 0.784944 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7624 . intronic . 0.7680 0.7600 0.7593 1.5 +14 23873021 MYH6 C T 9 0.0455272 . . . . 0.0377 . intronic . 0.0364 0.0340 0.0294 1.5 +14 23873056 MYH6 A C 1 0.00139776 . . . . . . intronic . 0.0047 . 0.0032 4 +14 23873092 MYH6 G A 61 0.159145 . . . . . . intronic . . . 0.2573 1.5 +14 23873940 MYH6 C T 2 0.00199681 3.478 MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0082 nonsynonymous_SNV exonic T 0.0069 0.0080 0.0058 7.25 +14 23874364 MYH6 G A 1 0.000199681 . . . . 7.492e-05 . intronic\x3bintronic . 0.0001 9.847e-05 0.0002 6.5 +14 23874507 MYH6 G T 27 0.0776757 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1055 synonymous_SNV exonic . 0.1095 0.1041 0.0996 1.5 +14 23874523 MYH6 C T 61 0.154353 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2607 synonymous_SNV exonic . 0.2608 0.2581 0.2614 1.5 +14 23874541 MYH6 C T 9 0.0571086 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0824 synonymous_SNV exonic . 0.0884 0.0829 0.0862 1.5 +14 23874851 MYH6 C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0056 synonymous_SNV exonic . 0.0051 0.0061 0.0073 6.5 +14 23876216 MYH6 G A 9 0.0497204 . MedGen:CN169374 not_specified Benign 0.0298 . intronic . 0.0364 0.0329 0.0297 1.5 +14 23876267 MYH6 C T 9 0.0567093 5.156 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Atrial_septal_defect|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0824 nonsynonymous_SNV exonic T 0.0883 0.0829 0.0860 3.5 +14 23876347 MYH6 C T 1 0.00419329 3.306 Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2750467,OMIM:613251|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_14|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 8.5 +14 23881950 MYH7 C T 19 0.0636981 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign . . UTR3 . . . 0.0754 1.5 +14 23882043 MYH7 C T 1 0.00139776 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0078 . UTR3 . 0.0066 0.0082 0.0079 4 +14 23882144 MYH7 T C 81 0.384385 . . . . . . intronic . 0.3705 . 0.3720 1.5 +14 23882186 MYH7 T G 72 0.351038 . . . . . . intronic . . . 0.3642 1.5 +14 23883184 MYH7 C T 34 0.134984 . MedGen:CN169374 not_specified Benign 0.1570 . intronic . 0.1524 0.1562 0.1659 1.5 +14 23883374 MYH7 C T 1 0.00479233 . . . . . . intronic . . . 0.0004 4 +14 23883404 MYH7 C G 19 0.0617013 . . . . . . intronic . . . 0.0746 1.5 +14 23884137 MYH7 T A 19 0.116813 . . . . . . intronic . . . 0.1213 1.5 +14 23884174 MYH7 G T 1 0.000199681 . . . . 0.0002 . intronic . 0.0001 0.0002 0.0002 6.5 +14 23884524 MYH7 C A 9 0.0309505 . MedGen:CN169374 not_specified Benign 0.0111 . intronic\x3bintronic . 0.0098 0.0093 0.0071 1.5 +14 23884889 MYH7 C T 19 0.117612 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1175 synonymous_SNV exonic . 0.1317 0.1224 0.1213 1.5 +14 23884981 MYH7 C T 1 0.000199681 4.429 . . . 2.998e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 8.5 +14 23886010 MHRT G T 1 0.000199681 . . . . . . ncRNA_intronic . . . 0.0003 2.5 +14 23886155 MYH7 A G 3 0.0111821 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0086 synonymous_SNV exonic . 0.0067 0.0083 0.0142 1.5 +14 23886264 MHRT C T 35 0.136981 . . . . . . ncRNA_intronic . . . 0.1647 -2.5 +14 23886409 MYH7 G C 3 0.00519169 3.122 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0105 nonsynonymous_SNV exonic T 0.0115 0.0127 0.0111 4.125 +14 23886509 MYH7 G C 1 0.000199681 4.335 . . . 1.503e-05 nonsynonymous_SNV exonic D . 8.976e-06 . 8.5 +14 23886597 MHRT C A 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 +14 23887645 MYH7 T C 73 0.351238 . MedGen:CN169374 not_specified Benign 0.3662 . intronic . 0.3634 0.3584 0.3612 1.5 +14 23888323 MYH7 T TG 73 0.337061 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005 Primary_familial_hypertrophic_cardiomyopathy Uncertain_significance . . intronic . . . 0.3601 1.5 +14 23888368 MYH7 C T 1 0.000199681 . . . . 1.498e-05 . intronic . . 8.953e-06 . 6.5 +14 23888371 MYH7 G A 2 0.00459265 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0160 . intronic . 0.0135 0.0158 0.0207 1.5 +14 23888665 MYH7 A T 73 0.336661 . MedGen:CN169374 not_specified Benign 0.3534 . intronic . 0.3628 0.3553 0.3610 1.5 +14 23888671 MYH7 G A 1 0.00179712 . MedGen:CN169374 not_specified Uncertain_significance 0.0054 . intronic . 0.0043 0.0049 0.0055 4 +14 23889445 MYH7 T TG 11 0.0403355 . 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:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Paroxysmal_familial_ventricular_fibrillation_1|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0027 . splicing . . 0.0129 0.0704 2.125 +14 23890074 MYH7 G A 2 0.000599042 . . . . . . intronic . . . 0.0005 4 +14 23891481 MYH7 C T 2 0.00319489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0073 synonymous_SNV exonic . 0.0077 0.0093 0.0091 4.625 +14 23891496 MYH7 C T 1 0.000199681 3.877 MedGen:CN169374 not_specified Uncertain_significance 4.495e-05 nonsynonymous_SNV exonic D . 8.952e-06 . 8.5 +14 23892819 MYH7 G A 2 0.00259585 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0005 synonymous_SNV exonic . . 0.0005 0.0004 4 +14 23892879 MYH7 C T 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 5.994e-05 synonymous_SNV exonic . 0.0001 4.476e-05 . 6.5 +14 23892888 MYH7 A G 73 0.376398 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.3270 synonymous_SNV exonic . 0.3288 0.3225 0.3257 1.5 +14 23892948 MYH7 C A 1 0.000199681 . . . . 1.498e-05 . intronic . . 1.79e-05 . 6.5 +14 23892950 MYH7 C T 1 0.0507188 . MedGen:CN169374 not_specified Benign 0.0007 . intronic . 0.0009 0.0008 0.0007 1.5 +14 23894051 MYH7 C T 1 0.000199681 7.365 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 2.997e-05 nonsynonymous_SNV exonic D . 3.581e-05 . 13 +14 23894291 MYH7 C T 9 0.0301518 . . . . . . intronic . . . 0.0071 1.5 +14 23895083 MYH7 T C 29 0.251997 . . . . . . intronic . . . 0.1536 1.5 +14 23896823 MYH7 A T 1 0.000199681 5.665 . . . 1.502e-05 nonsynonymous_SNV exonic D . 8.952e-06 . 10.5 +14 23897077 MYH7 T C 1 0.0329473 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0005 synonymous_SNV exonic . 0.0009 0.0006 0.0005 1.5 +14 23897156 MYH7 G A 3 0.00119808 . . . . . . intronic . . . 0.0032 4 +14 23898105 MYH7 C A 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 +14 23898122 MYH7 G C 2 0.000599042 . . . . 0.0008 . intronic . 0.0007 0.0004 0.0002 4 +14 23898504 MYH7 C T 1 0.000199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:C3495498,OMIM:192600|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Familial_hypertrophic_cardiomyopathy_1|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 0.0003 6.67e-05 9 +14 23898994 MYH7 G A 9 0.15615 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0794 synonymous_SNV exonic . 0.0867 0.0801 0.0785 1.5 +14 23899027 MYH7 C T 35 0.0796725 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1567 synonymous_SNV exonic . 0.1513 0.1551 0.1635 1.5 +14 23899060 MYH7 G A 19 0.0638978 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0779 synonymous_SNV exonic . 0.0795 0.0767 0.0738 1.5 +14 23899725 MYH7 A G 9 0.170527 . MedGen:CN169374 not_specified Benign 0.0890 . intronic . 0.0886 0.0832 0.0808 1.5 +14 23899793 MYH7 G A 8 0.0145767 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0292 synonymous_SNV exonic . 0.0290 0.0281 0.0232 1.5 +14 23900093 MYH7 C T 7 0.0471246 . MedGen:CN169374 not_specified Likely_benign 0.0095 . intronic . 0.0091 0.0080 0.0064 4.5 +14 23900794 MYH7 G A 31 0.263778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.1618 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1680 0.1604 0.1547 1.5 +14 23901012 MYH7 T C 7 0.00579073 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.0152 synonymous_SNV exonic . 0.0147 0.0157 0.0127 1.5 +14 23901581 MYH7 G T 1 0.033147 . . . . . . intronic . . . 0.0005 1.5 +14 23901582 MYH7 G C 19 0.061901 . . . . . . intronic . . . 0.0738 1.5 +14 23902269 MYH7 C T 1 0.000998403 . MedGen:CN169374 not_specified Likely_benign 0.0020 . intronic . 0.0023 0.0022 0.0015 4 +14 23902753 MYH7 G A 103 0.520367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0009054,MedGen:C2931268|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1842160,OMIM:608358,SNOMED_CT:699267007|MedGen:CN074249,OMIM:160500,Orphanet:ORPHA59135|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Scapuloperoneal_myopathy|Left_ventricular_noncompaction_cardiomyopathy|Myosin_storage_myopathy|Myopathy,_distal,_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign 0.4780 synonymous_SNV exonic . 0.4841 0.4796 0.4778 1.5 +14 23902966 MYH7 C G 1 0.000199681 . . . . 1.522e-05 . intronic . . 9.055e-06 . 6.5 +14 23902974 MYH7 C A 19 0.0615016 . . . . 0.0791 . intronic . 0.0778 0.0764 0.0739 1.5 +14 73614748 PSEN1 G A 1 0.000399361 . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance 7.531e-05 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0001 9.85e-05 0 6.5 +14 73637794 PSEN1 G A 1 0.000998403 . . . . 0.0044 . intronic . 0.0052 0.0041 0.0051 4 +14 73664718 PSEN1 T C 21 0.0189696 . . . . 0.0703 . intronic . 0.0523 0.0552 0.0516 1.5 +14 73664853 PSEN1 G T 124 0.671526 . MedGen:CN169374 not_specified Benign 0.5730 . intronic . 0.5613 0.5520 0.5399 1.5 +14 73673178 PSEN1 A G 3 0.00559105 2.110 Human_Phenotype_Ontology:HP:0002145,MedGen:C0338451,OMIM:600274,Orphanet:ORPHA282,SNOMED_CT:230270009|MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C0236642,OMIM:172700,SNOMED_CT:13092008|MedGen:C1843013,OMIM:607822|MedGen:C3151038,OMIM:613737|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Frontotemporal_dementia|Alzheimer's_disease|Pick's_disease|Alzheimer_disease,_type_3|Acne_inversa,_familial,_3|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0209 nonsynonymous_SNV exonic D 0.0187 0.0186 0.0231 3.5 +14 76425507 TGFB3 C G 1 0.000199681 . . . . 1.498e-05 . UTR3 . . 8.954e-06 . 6.5 +14 76429868 TGFB3 A G 25 0.146166 . . . . 0.0767 . intronic . 0.0766 0.0761 0.0682 1.5 +14 76432117 TGFB3 GC G 25 0.123203 . . . . . . intronic . . . 0.0636 1.5 +14 76446886 TGFB3 G A 1 0.000199681 . MedGen:C3553762,OMIM:614816|MedGen:CN169374|MedGen:CN230736 Loeys-Dietz_syndrome_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 7.165e-05 6.665e-05 6.5 +14 90863452 CALM1 G T 2 0.00519169 . . . . . . UTR5 . . . 0.0023 0 +14 90863488 CALM1 C CA 2 0.000998403 . . . . . . UTR5 . 0.0186 . 0.0009 -2.5 +14 90863489 CALM1 G A,GCA 2 0.000998403 . . . . . . UTR5 . . . 0.0009 0 +14 90866346 CALM1 C T 121 0.484425 . . . . . . intronic . 0.6245 . 0.6196 -2.5 +14 90866350 CALM1 T C 1 0.000199681 . . . . . . intronic . 0.0003 . 0.0004 2.5 +14 90870167 CALM1 G A 2 0.000798722 . . . . 0.0037 . intronic . 0.0043 0.0036 0.0032 0 +14 90870689 CALM1 A G 1 0.000199681 . . . . 1.524e-05 . intronic . . 9.248e-06 . 2.5 +14 90870740 CALM1 C T 1 0.000199681 . MedGen:C3554047,OMIM:614916|MedGen:C4015671,OMIM:616247|MedGen:CN169374|MedGen:CN230736 Ventricular_tachycardia,_catecholaminergic_polymorphic,_4|Long_QT_syndrome_14|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0018 synonymous_SNV exonic . 0.0009 0.0016 0.0009 0 +14 90870909 CALM1 T G 3 0.00159744 . . . . 0.0063 . intronic . 0.0052 0.0063 0.0059 0 +15 35083378 ACTC1 A G 2 0.0285543 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C2677506,OMIM:612098|MedGen:C2748552,OMIM:612794|MedGen:C3150681,OMIM:613424|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_11|Atrial_septal_defect_5|Dilated_cardiomyopathy_1R|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0036 synonymous_SNV exonic . 0.0042 0.0039 0.0039 2.75 +15 35083508 LOC101928174 TCACA T 65 0.244808 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239310 Atrial_septal_defect|Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity . . ncRNA_intronic . . . 0.1298 -2.5 +15 35084543 LOC101928174 A C 1 0.000199681 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . . 2.5 +15 35084562 LOC101928174 G A 1 0.000199681 . . . . 7.492e-05 . ncRNA_intronic . 0.0001 5.371e-05 . 2.5 +15 48703130 FBN1 T C 1 0.019369 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign . . UTR3 . . . 0.0025 -2.5 +15 48703579 FBN1 G A 1 0.000199681 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Likely_benign 2.999e-05 . intronic . 0.0001 5.403e-05 . 2.5 +15 48712876 FBN1 T G 2 0.0491214 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign 0.0102 . intronic . 0.0099 0.0099 0.0082 -2.5 +15 48713959 FBN1 A T 1 0.0253594 . . . . . . intronic . . . 0.0026 -2.5 +15 48718045 FBN1 C T 1 0.000199681 . . . . 1.5e-05 synonymous_SNV exonic . . 8.975e-06 . 2.5 +15 48718098 FBN1 T C 1 0.000399361 . . . . 0.0001 . intronic . 0.0001 0.0001 . 2.5 +15 48718120 FBN1 T C 1 0.000399361 . . . . . . intronic . . . . 2.5 +15 48719701 FBN1 G T 2 0.0489217 . . . . . . intronic . . . 0.0082 -2.5 +15 48720526 FBN1 G C 169 0.65595 . MedGen:CN169374 not_specified Benign 0.7660 . intronic . 0.7771 0.7679 0.7594 -2.5 +15 48720652 FBN1 C T 2 0.0509185 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0149 synonymous_SNV exonic . 0.0172 0.0155 0.0137 -2.5 +15 48722884 FBN1 A G 2 0.0511182 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.0149 synonymous_SNV exonic . 0.0172 0.0155 0.0137 -2.5 +15 48722887 FBN1 A G 1 0.000199681 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . 0.0002 8.961e-05 6.662e-05 2.5 +15 48725121 FBN1 T G 2 0.000798722 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0014 0.0012 0.0010 0 +15 48725206 FBN1 T A 2 0.0507188 . MedGen:CN169374 not_specified Benign 0.0148 . intronic . 0.0172 0.0154 0.0137 -2.5 +15 48726805 FBN1 A C 1 0.000199681 4.877 . . . . nonsynonymous_SNV exonic T . . . 4.5 +15 48729619 FBN1 T G 1 0.000199681 . . . . 0 . intronic . . 0 . 2.5 +15 48729648 FBN1 T C 200 0.930112 . . . . . . intronic . 0.8866 . 0.8599 -2.5 +15 48729950 FBN1 A G 1 0.000199681 . . . . 1.515e-05 . intronic . . 9.005e-06 . 2.5 +15 48736684 FBN1 A T 168 0.620807 . . . . . . intronic . . . 0.7431 -2.5 +15 48739082 FBN1 C A 2 0.0425319 . . . . . . intronic . . . 0.0139 -2.5 +15 48740907 FBN1 A G 1 0.000199681 . . . . . . intronic . . . . 2.5 +15 48740936 FBN1 G GA 2 0.0425319 . MedGen:CN169374 not_specified Benign 0.0159 . intronic . 0.0177 0.0156 0.0138 -2.5 +15 48744726 FBN1 G A 1 0.000599042 . . . . 0.0007 . intronic . 0.0003 0.0005 0.0003 0 +15 48744908 FBN1 AAGG A 2 0.0405351 . . . . 0.0103 . intronic . 0.0102 0.0100 0.0085 -2.5 +15 48748913 FBN1 C T 2 0.00259585 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0071 synonymous_SNV exonic . 0.0086 0.0078 0.0097 0 +15 48755434 FBN1 A C 1 0.000199681 4.356 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.961e-06 . 4.5 +15 48755450 FBN1 T TA 2 0.0477236 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign 0.0103 . intronic . 0.0103 0.0100 0.0087 -2.5 +15 48755472 FBN1 G A 28 0.0467252 . MedGen:CN169374 not_specified Benign 0.0932 . intronic . 0.0932 0.0934 0.0934 0.5 +15 48756163 FBN1 G A 1 0.000199681 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0001 0.0001 . 2.5 +15 48756199 FBN1 A G 1 0.000199681 . . . . 4.522e-05 synonymous_SNV exonic . . 2.691e-05 . 2.5 +15 48758132 FBN1 A C 36 0.207268 . . . . . . intronic . . . 0.1505 0.5 +15 48760067 FBN1 G A 2 0.047524 . . . . . . intronic . . . 0.0086 -2.5 +15 48760087 FBN1 G C 1 0.000199681 . . . . 1.5e-05 . intronic . . 9.003e-06 . 2.5 +15 48760750 FBN1 T C 2 0.0405351 . MedGen:CN169374 not_specified Benign 0.0103 . intronic . 0.0101 0.0099 0.0085 -2.5 +15 48760805 FBN1 C T 1 0.000199681 . . . . . . intronic . . . 0.0035 0 +15 48763008 FBN1 A T 15 0.0682907 . . . . . . intronic . . . 0.1400 -2.5 +15 48764709 FBN1 A T 1 0.000199681 . . . . 1.499e-05 . intronic . . 1.817e-05 6.699e-05 2.5 +15 48764942 FBN1 A G 2 0.110024 . . . . . . intronic . . . 0.0200 -2.5 +15 48766737 FBN1 T C 1 0.000199681 0.242 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic T 0.0001 1.791e-05 . 4.5 +15 48779200 FBN1 AATAAC A 47 0.301318 . . . . . . intronic . . . 0.2484 -2.5 +15 48779231 FBN1 GTAAAA ATAAAA,G 47 0.196685 . MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374 Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified Benign 0.1480 . intronic . 0.1656 0.1539 0.1538 -2.5 +15 48779402 FBN1 C T 16 0.196486 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.1481 . intronic . 0.1390 0.1466 0.1557 -2.5 +15 48779550 FBN1 G A 1 0.000399361 7.283 Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic D 0.0015 0.0003 6.66e-05 4 +15 48779604 FBN1 A T 1 0.000199681 5.592 . . . . nonsynonymous_SNV exonic D . . . 6.5 +15 48779649 FBN1 T C 1 0.000399361 . . . . . . intronic . . 0 0 2.5 +15 48780504 FBN1 TTAAAGA T 28 0.048722 . . . . . . intronic\x3bintronic . . . 0.0916 -2.5 +15 48780551 FBN1 G C 1 0.000199681 . . . . 4.495e-05 . intronic . . 1.79e-05 . 2.5 +15 48782072 FBN1 T C 3 0.000599042 2.075 MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Marfan_syndrome|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0003 0.0006 0.0007 2 +15 48782151 FBN1 G A 1 0.000199681 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection Likely_benign 2.997e-05 synonymous_SNV exonic . 0.0001 3.581e-05 6.666e-05 2.5 +15 48787360 FBN1 G A 1 0.000199681 . . . . 6.01e-05 synonymous_SNV exonic . . 0.0001 0.0001 2.5 +15 48787523 FBN1 T C 1 0.00299521 . . . . . . intronic . . . 0.0001 0 +15 48787842 FBN1 TA T 2 0.0197684 . MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006 Marfan_syndrome Uncertain_significance . . intronic . . . 0.0025 -2.5 +15 48788436 FBN1 G C 1 0.000199681 . . . . 1.5e-05 . intronic . . 1.793e-05 0 2.5 +15 48789634 FBN1 T C 49 0.378594 . MedGen:CN169374 not_specified Benign 0.2607 . intronic . 0.2427 0.2535 0.2540 -2.5 +15 48797146 FBN1 C T 6 0.0756789 . . . . . . intronic . . . 0.0560 0.5 +15 48797158 FBN1 T C 1 0.000199681 . . . . . . intronic . . . 0 2.5 +15 48797192 FBN1 C T 2 0.0221645 . MedGen:CN169374 not_specified Likely_benign 0.0025 . intronic . 0.0026 0.0029 0.0025 -2.5 +15 48797307 FBN1 A G 18 0.296925 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign 0.1511 synonymous_SNV exonic . 0.1420 0.1500 0.1585 -2.5 +15 48807637 FBN1 C T 214 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . . 1 1 -0.5 +15 48818303 FBN1 C A 1 0.000199681 . . . . 0.0002 . intronic . 0.0002 0.0002 0.0003 2.5 +15 48826356 FBN1 A G 1 0.000599042 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0008 0.0013 0.0013 0 +15 48826428 FBN1 A G 1 0.00579073 . . . . 0 . intronic . . 0 0 0 +15 48888508 FBN1 G A 1 0.000399361 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0009 synonymous_SNV exonic . 0.0012 0.0009 0.0027 0 +15 48888610 FBN1 T C 11 0.0151757 . . . . 0.0220 . intronic . 0.0235 0.0229 0.0194 -2.5 +15 48892427 FBN1 T A 1 0.000199681 4.225 . . . 3.006e-05 nonsynonymous_SNV exonic D . 2.704e-05 . 4.5 +15 48892504 FBN1 T C 1 0.00439297 . . . . . . intronic . . . 0.0091 0 +15 48902965 FBN1 G A 1 0.000798722 . Human_Phenotype_Ontology:HP:0001083,MedGen:C0013581,Orphanet:ORPHA1885,SNOMED_CT:74969002|MedGen:C0024796,OMIM:154700,Orphanet:ORPHA558,SNOMED_CT:19346006|MedGen:C0265287,OMIM:102370,Orphanet:ORPHA969,SNOMED_CT:254090007|MedGen:C0265313,Orphanet:ORPHA3449|MedGen:C1858556,OMIM:604308,Orphanet:ORPHA99715|MedGen:C1861456,OMIM:184900,Orphanet:ORPHA2833|MedGen:C3489726,Orphanet:ORPHA2623|MedGen:CN118826,Orphanet:ORPHA91387|MedGen:CN169374|MedGen:CN230736 Ectopia_lentis|Marfan_syndrome|Acromicric_dysplasia|Weill-Marchesani_syndrome|MASS_syndrome|Stiff_skin_syndrome|Geleophysic_dysplasia|Thoracic_aortic_aneurysm_and_aortic_dissection|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0070 0.0060 0.0038 0 +15 63335907 TPM1 C G 1 0.00419329 . MedGen:CN169374 not_specified Benign 0.0035 synonymous_SNV exonic . . 0.0002 6.676e-05 4 +15 63335910 TPM1 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0018 synonymous_SNV exonic . . 0.0003 0.0001 4 +15 63336099 TPM1 C G 17 0.028754 . . . . . . intronic . . . 0.0782 1.5 +15 63340705 TPM1 C T 16 0.210863 . . . . 0.2097 . UTR5 . . 0.1126 0.1194 1.5 +15 63349132 TPM1 T A 30 0.126198 . . . . . . intronic . 0.1316 . 0.1311 1.5 +15 63351687 TPM1 A G 160 0.861422 . . . . . . intronic . . . 0.8008 1.5 +15 63351736 TPM1 G A 1 0.00119808 . MedGen:CN169374 not_specified Uncertain_significance 0.0005 . intronic . 0.0007 0.0004 6.662e-05 4 +15 63351840 TPM1 C A 130 0.705671 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.6546 synonymous_SNV exonic . 0.6458 0.6527 0.6548 1.5 +15 63351873 TPM1 T C 15 0.0241613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0766 synonymous_SNV exonic . 0.0713 0.0719 0.0714 1.5 +15 63353451 TPM1 A G 2 0.00259585 . MedGen:CN169374 not_specified Benign 0.0005 synonymous_SNV exonic . 0.0005 0.0006 0.0005 4 +15 63353565 TPM1 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +15 63354009 TPM1 G C 4 0.00898562 . MedGen:CN169374 not_specified Likely_benign 0.0139 . intronic . 0.0128 0.0136 0.0118 1.5 +15 63356184 TPM1 C T 1 0.000798722 . . . . . . intronic\x3bintronic . . . 0.0001 4 +15 63356237 TPM1 C T 3 0.000599042 . MedGen:CN169374 not_specified Uncertain_significance 0.0005 . intronic\x3bintronic . 0.0005 0.0004 0.0003 4 +15 63358033 TPM1 T C 1 0.0151757 . . . . . . intronic . . . 0.0018 1.5 +15 63362256 TPM1 A G 1 0.000599042 . . . . . . UTR3 . . . 0.0007 4 +15 63363401 TPM1 C CATTTT,CATTTTGTTTT 1 0.127396 . . . . 0.5264 . UTR3 . . . 0.5107 1.5 +15 63363402 TPM1 G A 72 0.372005 . MedGen:CN169374 not_specified Benign 0.0073 . UTR3 . . 0.0017 0.0099 1.5 +15 66679649 MAP2K1 T TC 19 0.147165 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|not_specified Benign/Likely_benign 0.1024 . UTR5 . 0.0874 0.0835 0.0760 -2.5 +15 66679798 MAP2K1 C G 2 0.00758786 . . . . 0.0170 . intronic . 0.0140 0.0197 0.0254 -2.5 +15 66679819 MAP2K1 G C 21 0.0361422 . . . . . . intronic . . . 0.0861 3.5 +15 66679850 MAP2K1 TG T 21 0.0361422 . . . . . . intronic . . . 0.0861 -2.5 +15 66679867 MAP2K1 C T 1 0.000199681 . . . . . . intronic . . . . 2.5 +15 66727597 MAP2K1 G C 69 0.270767 . MedGen:CN169374 not_specified Benign 0.3230 . intronic . 0.3353 0.3309 0.3237 0.5 +15 66729250 MAP2K1 C T 6 0.0191693 . MedGen:CN169374 not_specified Benign 0.0276 . intronic . 0.0236 0.0270 0.0203 -2.5 +15 66735551 MAP2K1 C T 193 0.855232 . . . . . . intronic . . . 0.9129 3.5 +15 66736922 MAP2K1 G A 2 0.000998403 . . . . . . intronic . . . 0.0047 0 +15 66777345 MAP2K1 G A 2 0.00539137 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 0.0169 synonymous_SNV exonic . 0.0207 0.0178 0.0174 -2.5 +15 66779537 MAP2K1 A C 1 0.000199681 . . . . 0.0002 . intronic . . 0.0001 6.663e-05 2.5 +15 66779698 MAP2K1 C T 17 0.0900559 . . . . . . intronic . 0.0893 . 0.0890 0.5 +15 66782048 MAP2K1 C T 17 0.0892572 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign 0.0863 . intronic . 0.0854 0.0869 0.0887 0.5 +15 66782108 MAP2K1 CTATT C 1 0.00119808 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:C1275081,Orphanet:ORPHA1340,SNOMED_CT:403770008|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Cardio-facio-cutaneous_syndrome|Rasopathy|not_specified Benign 0.0032 . intronic . 0.0029 0.0034 0.0031 0 +15 73614834 HCN4 T C 202 0.859625 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.9274 synonymous_SNV exonic . 0.9344 0.9315 0.9391 1.5 +15 73614974 HCN4 G A 1 0.000199681 4.878 . . . 0 nonsynonymous_SNV exonic D . 2.873e-05 0.0001 8.5 +15 73615084 HCN4 G A 1 0.000599042 3.325 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0058 nonsynonymous_SNV exonic D 0.0009 0.0025 0.0031 6 +15 73615097 HCN4 T C 5 0.0081869 -3.599 MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.03 nonsynonymous_SNV exonic T 0.0126 0.0145 0.0120 3.5 +15 73615146 HCN4 G A 1 0.0071885 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0021 synonymous_SNV exonic . 0.0004 0.0004 0.0003 4 +15 73615531 HCN4 G A 2 0.000399361 1.536 MedGen:CN169374 not_specified Uncertain_significance 6.128e-05 nonsynonymous_SNV exonic D . 1.344e-05 0 8.5 +15 73615786 HCN4 G C 2 0.00339457 0.186 Human_Phenotype_Ontology:HP:0030682,MedGen:C1960469,Orphanet:ORPHA54260,SNOMED_CT:427608000|MedGen:C1834144,OMIM:163800|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Left_ventricular_noncompaction|Sick_sinus_syndrome_2,_autosomal_dominant|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0118 nonsynonymous_SNV exonic T 0.0132 0.0115 0.0126 3.5 +15 73615878 HCN4 C T 8 0.0275559 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0484 synonymous_SNV exonic . 0.0488 0.0497 0.0476 1.5 +15 73615940 HCN4 G A 1 0.000199681 . . . . 3.123e-05 synonymous_SNV exonic . . 1.88e-05 . 6.5 +15 73616252 HCN4 C T 1 0.000199681 3.312 MedGen:C2751083,OMIM:613123 Brugada_syndrome_8 Uncertain_significance 0.0001 nonsynonymous_SNV exonic D . 8.234e-05 0 8.5 +15 73616635 HCN4 T C 202 0.772963 . MedGen:CN169374 not_specified Benign 0.9242 . intronic . 0.9314 0.9290 0.9345 1.5 +15 73617239 HCN4 C T 2 0.00379393 . . . . . . intronic . . . 0.0130 1.5 +15 73617250 HCN4 C T 4 0.00778754 . . . . 0.0209 . intronic . 0.0216 0.0208 0.0219 1.5 +15 73617804 HCN4 G T 2 0.00339457 . MedGen:CN169374 not_specified Benign 0.0099 . intronic . 0.0145 0.0111 0.0124 1.5 +15 73617851 HCN4 C T 1 0.000199681 . . . . . . intronic . . . 0 6.5 +15 73621933 HCN4 C T 1 0.000199681 6.335 . . . 1.501e-05 nonsynonymous_SNV exonic D . 1.791e-05 . 10.5 +15 73621946 HCN4 G A 21 0.053115 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.0910 0.0957 0.1067 1.5 +15 73622049 HCN4 C T 1 0.000199681 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 4.5e-05 synonymous_SNV exonic . . 5.372e-05 0.0001 6.5 +15 73622061 HCN4 G A 1 0.000199681 . MedGen:C2751083,OMIM:613123|MedGen:CN169374 Brugada_syndrome_8|not_specified Benign/Likely_benign 4.534e-05 synonymous_SNV exonic . . 3.596e-05 . 6.5 +15 73624463 HCN4 C T 1 0.000599042 . MedGen:C2751083,OMIM:613123|MedGen:CN169374 Brugada_syndrome_8|not_specified Conflicting_interpretations_of_pathogenicity 1.501e-05 . intronic . . 8.96e-06 6.67e-05 4 +15 73660154 HCN4 T C 1 0.000199681 0.242 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0 nonsynonymous_SNV exonic T . 0.0026 0.0019 6 +15 73660505 HCN4 C T 24 0.0249601 2.191 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1222 nonsynonymous_SNV exonic T 0.0508 0.0637 0.0594 3.5 +15 73660576 HCN4 G C 2 0.00359425 . MedGen:C2751083,OMIM:613123|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_8|not_specified|Cardiovascular_phenotype Benign 0.0090 synonymous_SNV exonic . 0.0047 0.0069 0.0063 4 +16 30913382 CTF1 C T 1 0.000599042 . . . . 0 . intronic . . 0 . 4 +16 30913405 CTF1 C T 1 0.000199681 2.493 . . . . nonsynonymous_SNV exonic T . . . 8.5 +16 30913845 CTF1 C G 1 0.00119808 . MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0097 synonymous_SNV exonic . . 0.0025 0.0017 4 +17 8192158 RANGRF C T 1 0.000599042 1.830 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance 0.0009 nonsynonymous_SNV exonic T 0.0013 0.0010 0.0005 2 +17 8192922 na C T 11 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3\x3bUTR3 . 0.0433 0.0388 0.0423 -2.5 +17 8192970 RANGRF G A 2 0.00778754 . . . . 0.0187 . UTR3 . 0.0197 0.0181 0.0188 -2.5 +17 8192987 RANGRF C A 1 0.000199681 . . . . 1.517e-05 . UTR3 . . . . 2.5 +17 37821770 TCAP C T 3 0.0301518 . MedGen:CN169374 not_specified Benign 0.0537 . intronic . 0.0561 0.0571 0.0543 1.5 +17 37821927 TCAP G C 4 0.00379393 . . . . 0.0038 . intronic . 0.0029 0.0025 0.0021 5 +17 37822174 TCAP C T 2 0.00838658 6.733 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843791,OMIM:607487|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1N|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0039 nonsynonymous_SNV exonic D 0.0042 0.0042 0.0038 10.5 +17 37822311 TCAP A C 149 0.54972 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.7255 synonymous_SNV exonic . 0.7122 0.7262 0.7038 7.5 +17 39911975 JUP G T 1 0.00159744 . MedGen:CN169374 not_specified Benign 0.0029 . UTR3 . 0.0035 0.0028 0.0025 4 +17 39912145 JUP T A 155 0.58726 1.242 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7291 nonsynonymous_SNV exonic T 0.7391 0.7357 0.7421 3.5 +17 39912581 JUP A G 160 0.636581 . . . . . . intronic . . . 0.7693 1.5 +17 39912590 JUP G A 3 0.000798722 . . . . . . intronic . . . 0.0015 4 +17 39913645 JUP T C 155 0.717252 . MedGen:CN169374 not_specified Benign 0.7393 . intronic . 0.7456 0.7450 0.7532 1.5 +17 39913826 JUP G A 1 0.00279553 . . . . 0.0007 . intronic\x3bintronic . 0.0001 0.0006 0.0004 4 +17 39914070 JUP G T 155 0.638978 . MedGen:CN169374 not_specified Benign 0.7360 . intronic . 0.7430 0.7405 0.7494 1.5 +17 39915057 JUP T C 1 0.00239617 . MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0064 synonymous_SNV exonic . 0.0042 0.0050 0.0116 1.5 +17 39919367 JUP G A 1 0.00119808 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . . 0.0001 6.672e-05 4 +17 39923614 JUP A G 177 0.744209 . MedGen:CN169374 not_specified Benign 0.8096 . intronic . 0.8084 0.8138 0.8146 1.5 +17 39925713 JUP C T 14 0.0239617 7.586 MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:C1969081,OMIM:611528|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_12|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0630 nonsynonymous_SNV exonic T 0.0581 0.0563 0.0671 3.5 +17 39925925 JUP A G 174 0.715655 . MedGen:C1832600,OMIM:601214,Orphanet:ORPHA34217|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Naxos_disease|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.7622 synonymous_SNV exonic . 0.7552 0.7581 0.7567 1.5 +17 48243312 SGCA C A 4 0.00459265 . . . . . . upstream . . . 0.0110 1.5 +17 48243323 SGCA C T 1 0.00139776 . . . . . . upstream . . . 0 4 +17 48243461 SGCA G A 12 0.0283546 . MedGen:CN169374 not_specified Likely_benign 0.0694 . intronic . 0.0627 0.0692 0.0713 1.5 +17 48243504 SGCA C T 214 0.988618 . . . . 0.9998 . intronic . 0.9997 0.9998 0.9998 1.5 +17 48244683 SGCA G C 3 0.0081869 . MedGen:CN169374 not_specified Benign 0.0087 . intronic . 0.0067 0.0085 0.0090 4 +17 48244932 SGCA G A 1 0.00159744 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 . intronic . 0.0014 0.0020 0.0013 4 +17 48245269 SGCA C A 19 0.122404 . MedGen:CN169374 not_specified Benign 0.1414 . intronic . 0.1379 0.1437 0.1498 1.5 +17 48245324 SGCA G A 1 0.000798722 6.470 MedGen:CN169374 not_specified Benign 0.0010 nonsynonymous_SNV exonic D 0.0005 0.0008 0.0001 8 +17 48245770 SGCA C A 1 0.00139776 2.670 MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 nonsynonymous_SNV exonic D 0.0007 0.0008 0.0005 6 +17 48247689 SGCA C T 7 0.0786741 . MedGen:C2936332,OMIM:608099,Orphanet:ORPHA62|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2D|not_specified Benign/Likely_benign 0.0381 synonymous_SNV exonic . 0.0416 0.0388 0.0406 1.5 +17 48247996 SGCA C T 1 0.000199681 . . . . 0 . intronic . . 0 . 6.5 +17 48248083 SGCA C A 1 0.00179712 . . . . . . intronic . 0.0057 . 0.0155 1.5 +17 48252804 SGCA T C 207 0.921925 . MedGen:CN169374 not_specified Benign 0.9620 . UTR3 . 0.9589 0.9611 0.959 1.5 +17 68172326 KCNJ2 C T 24 0.153954 . MedGen:C1563715,OMIM:170390,Orphanet:ORPHA37553,SNOMED_CT:422348008|MedGen:C2348199,Orphanet:ORPHA51083|MedGen:CN169374|MedGen:CN204347,Orphanet:ORPHA334|MedGen:CN230736 Andersen_Tawil_syndrome|short_QT_syndrome|not_specified|Familial_atrial_fibrillation|Cardiovascular_phenotype Benign 0.1167 synonymous_SNV exonic . 0.1186 0.1172 0.1124 1.5 +17 78078341 GAA T G 1 0.00279553 . Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MeSH:D030342,MedGen:C0950123|MedGen:C0017919,Orphanet:ORPHA79201,SNOMED_CT:29633007|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN517202|MedGen:CN568813 Myopathy|Inborn_genetic_diseases|Glycogen_storage_disease|Glycogen_storage_disease,_type_II|not_provided|Glycogen_storage_disease_II,_adult_form Pathogenic 0.0053 . intronic . 0.0057 0.0053 0.0052 0 +17 78078656 GAA G A 1 0.0115815 4.921 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:C1847465|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|Acid_alpha-glucosidase,_allele_2|not_specified|not_provided other 0.0317 nonsynonymous_SNV exonic T 0.0315 0.0327 0.0350 -0.5 +17 78078709 GAA T C 166 0.714457 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Ciliary_dyskinesia|Glycogen_storage_disease,_type_II|not_specified|not_provided Benign 0.7654 synonymous_SNV exonic . 0.7490 0.7563 0.7533 0.5 +17 78078832 GAA G A 1 0.00958466 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0041 synonymous_SNV exonic . 0.0038 0.0046 0.0059 0 +17 78079481 GAA C G 165 0.602436 . . . . . . intronic . . . 0.7401 0.5 +17 78079509 GAA T G 165 0.605631 . MedGen:CN169374 not_specified Benign 0.7446 . intronic . 0.7352 0.7398 0.7392 -2.5 +17 78079544 GAA C G 165 0.602835 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7456 . intronic . 0.7384 0.7402 0.7400 0.5 +17 78079597 GAA A G 165 0.600839 -1.974 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7455 nonsynonymous_SNV exonic T 0.7383 0.7402 0.7399 2.5 +17 78079643 GAA C T 52 0.10603 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign/Likely_benign 0.2307 synonymous_SNV exonic . 0.22 0.2254 0.2138 -2.5 +17 78079669 GAA G A 165 0.602436 1.133 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.7460 nonsynonymous_SNV exonic T 0.7381 0.7402 0.7398 2.5 +17 78081307 GAA C T 20 0.0870607 . MedGen:CN169374 not_specified Benign 0.0654 . intronic . 0.0719 0.0657 0.0713 -2.5 +17 78081515 GAA G A 4 0.00239617 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0107 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.0120 0.0102 0.0095 -2.5 +17 78081526 GAA AGCGGCGG AGCAGCGGGCGGCGG 164 0.592851 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374|MedGen:CN517202 Glycogen_storage_disease,_type_II|not_specified|not_provided Benign 0.7440 . intronic\x3bintronic . . 0.7360 0.7304 -2.5 +17 78081551 GAA T C 164 0.601038 . MedGen:CN169374 not_specified Benign 0.7446 . intronic\x3bintronic . 0.7315 0.7313 0.7298 -2.5 +17 78081655 GAA G A 1 0.000399361 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0016 synonymous_SNV exonic . 0.0015 0.0018 0.0016 0 +17 78081661 GAA A T 20 0.110224 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0687 synonymous_SNV exonic . 0.0719 0.0656 0.0713 -2.5 +17 78081707 GAA G A 165 0.604433 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7978 . intronic . 0.7545 0.7644 0.7398 -2.5 +17 78081786 GAA C T 1 0.000199681 . . . . . . intronic . . . . 2.5 +17 78082221 GAA C T 2 0.00519169 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0152 . intronic\x3bintronic . 0.0166 0.0162 0.0136 -2.5 +17 78082504 GAA G A 164 0.602835 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7474 synonymous_SNV exonic . 0.7380 0.7401 0.7392 -2.5 +17 78083726 GAA A G 165 0.711661 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7619 . intronic . 0.7486 0.7547 0.7528 0.5 +17 78083791 GAA C T 20 0.0982428 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0658 synonymous_SNV exonic . 0.0715 0.0657 0.0712 -2.5 +17 78084459 GAA T C 2 0.000399361 . . . . . . intronic . . . . 2.5 +17 78084507 GAA G C 164 0.603035 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7454 . intronic . 0.7379 0.7399 0.7392 -2.5 +17 78084688 GAA C A 164 0.599241 . MedGen:CN169374 not_specified Benign 0.7454 . intronic\x3bintronic . 0.7380 0.7400 0.7392 0.5 +17 78084727 GAA G A 1 0.00279553 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity 0.0040 . intronic . 0.0040 0.0045 0.0059 0 +17 78084769 GAA G A 59 0.159545 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.2751 synonymous_SNV exonic . 0.2816 0.2765 0.2704 3.5 +17 78084887 GAA G A 1 0.000199681 . . . . . . intronic . . . . 2.5 +17 78085710 GAA T G 1 0.00339457 . . . . . . intronic . . . 0 0 +17 78085911 GAA G A 5 0.063099 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.0624 . intronic . 0.0628 0.0656 0.0661 -2.5 +17 78086531 GAA G A 9 0.0778754 . MedGen:CN169374 not_specified Benign 0.0543 . intronic . 0.0313 0.0403 0.0469 -2.5 +17 78086846 GAA A G 166 0.715056 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7704 . intronic . 0.7513 0.7547 0.7524 0.5 +17 78086869 GAA A C 4 0.0463259 . . . . 3.598e-05 . intronic . . 0.0001 . -2.5 +17 78086892 GAA C T 6 0.0638978 . . . . . . intronic . . . 0.0703 -2.5 +17 78086895 GAA A G 6 0.0621006 . . . . . . intronic . . . 0.0706 -2.5 +17 78086953 GAA G A 67 0.228035 . . . . . . intronic . . . 0.3127 -2.5 +17 78087041 GAA G A 9 0.0780751 2.321 .|MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Acid_alpha-glucosidase,_allele_4|Glycogen_storage_disease,_type_II|not_specified Conflicting_interpretations_of_pathogenicity,_other 0.0675 nonsynonymous_SNV exonic T 0.0348 0.0385 0.0470 -0.5 +17 78087109 GAA A G 71 0.241613 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign/Likely_benign 0.3708 synonymous_SNV exonic . 0.2793 0.2879 0.2959 -2.5 +17 78090928 GAA G A 166 0.789337 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7669 . intronic . 0.7530 0.7581 0.7546 0.5 +17 78090932 GAA T C 14 0.207069 . MedGen:CN169374 not_specified Likely_benign 0.1187 . intronic . 0.1056 0.1168 0.1239 -2.5 +17 78091359 GAA C G 2 0.00259585 . . . . 0.0069 . intronic . 0.0060 0.0072 0.0065 0 +17 78091405 GAA G A 165 0.711861 -0.394 MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.7645 nonsynonymous_SNV exonic T 0.7499 0.7566 0.7527 2.5 +17 78091929 GAA C T 1 0.000199681 . . . . . . intronic . . . 0 2.5 +17 78092063 GAA G A 151 0.509385 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002|MedGen:CN169374 Glycogen_storage_disease,_type_II|not_specified Benign 0.6465 synonymous_SNV exonic . 0.6427 0.6386 0.6279 3.5 +17 78092195 GAA G A 1 0.00199681 . MedGen:CN517202 not_provided Likely_benign 0.0049 . intronic . 0.0045 0.0049 0.0080 0 +17 78092211 GAA G T 2 0.00219649 . MedGen:CN517202 not_provided Likely_benign . . intronic . . . 0.0078 0 +17 78093011 GAA G A 1 0.0145767 . . . . . . intronic . 0.0057 . 0.0062 -2.5 +17 78093221 GAA G A 22 0.120008 . MedGen:C0017921,OMIM:232300,Orphanet:ORPHA365,SNOMED_CT:124462004,SNOMED_CT:237967002 Glycogen_storage_disease,_type_II Likely_benign . . UTR3 . . . 0.0785 0.5 +18 3067195 MYOM1 C T 1 0.000199681 . . . . . . UTR3 . . . . 2.5 +18 3067278 MYOM1 A G 97 0.594449 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5350 synonymous_SNV exonic . 0.4664 0.4685 0.4680 -2.5 +18 3067599 MYOM1 A G 26 0.0694888 . . . . 0.0810 . intronic . 0.0816 0.0839 0.0745 -2.5 +18 3075503 MYOM1 C CAAA 212 0.992612 . . . . 0.9942 . intronic . 0.9933 0.9933 0.9926 -2.5 +18 3075504 MYOM1 G A 1 0.00339457 . . . . . . intronic . . 0.0227 . -2.5 +18 3075554 MYOM1 T C 21 0.193291 . . . . . . intronic . 0.1216 . 0.1261 -2.5 +18 3075712 MYOM1 C A 98 0.622804 . MedGen:CN169374 not_specified Benign 0.4972 . intronic . 0.4632 0.4549 0.4613 -2.5 +18 3075746 MYOM1 G A 31 0.183506 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2178 synonymous_SNV exonic . 0.1697 0.1666 0.1958 -2.5 +18 3075778 MYOM1 A C 31 0.183506 . . . . 0.2071 . intronic . 0.1614 0.1681 0.1960 -2.5 +18 3075872 MYOM1 C G 31 0.174121 . . . . . . intronic . . . 0.1957 -2.5 +18 3083922 MYOM1 A C 4 0.00279553 . . . . 0.0089 . intronic\x3bintronic . 0.0044 0.0036 0.0033 1 +18 3084152 MYOM1 C T 200 0.863019 . . . . . . intronic . . . 0.9297 -2.5 +18 3085165 MYOM1 C T 2 0.000399361 . . . . 0.0001 . intronic . . 8.304e-05 6.832e-05 2.5 +18 3086065 MYOM1 C T 10 0.0521166 5.971 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0783 nonsynonymous_SNV exonic T 0.0716 0.0792 0.0798 -0.5 +18 3089123 MYOM1 CTATTT C 10 0.0696885 . . . . 0.0829 . intronic . 0.0724 0.0823 0.0798 -2.5 +18 3089522 MYOM1 G T 173 0.800319 . MedGen:CN169374 not_specified Benign 0.8049 . intronic . 0.7970 0.7995 0.8176 -2.5 +18 3089677 MYOM1 A G 3 0.00279553 . . . . . . intronic . . . 0.0070 0 +18 3090661 MYOM1 C T 1 0.000199681 6.060 . . . 2.998e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4.5 +18 3094131 MYOM1 A G 13 0.01877 . . . . 0.0202 . intronic . 0.0215 0.0198 0.0180 -2.5 +18 3100051 MYOM1 T C 205 0.913339 . . . . . . intronic . . . 0.9187 -2.5 +18 3100429 MYOM1 G A 109 0.348043 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4710 . intronic . 0.4470 0.4467 0.4390 -2.5 +18 3102499 MYOM1 C T 1 0.000399361 6.258 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic D 0.0005 0.0002 0.0002 4 +18 3102674 MYOM1 A G 1 0.000199681 . . . . 6.055e-05 . intronic . . 6.629e-05 0.0001 2.5 +18 3112230 MYOM1 A C 1 0.000199681 . . . . . . intronic . . . . 2.5 +18 3112231 MYOM1 G C 135 0.596046 . . . . . . intronic . . . 0.5853 -2.5 +18 3112252 MYOM1 C A 39 0.0810703 . . . . 0.1850 . intronic . 0.1805 0.1816 0.1793 -2.5 +18 3120060 MYOM1 G A 178 0.852436 . . . . . . intronic . . . 0.7968 -2.5 +18 3126632 MYOM1 C T 146 0.813698 . . . . . . intronic . . . 0.6976 -2.5 +18 3126811 MYOM1 A G 32 0.254393 0.079 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1523 nonsynonymous_SNV exonic T 0.1415 0.1432 0.1403 -0.5 +18 3129535 MYOM1 C T 3 0.00199681 . . . . 0.0051 . intronic . 0.0042 0.0050 0.0039 0 +18 3134610 MYOM1 A G 34 0.238019 . . . . 0.1577 . intronic . 0.1403 0.1511 0.1475 -2.5 +18 3134826 MYOM1 A C 3 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0139 . intronic . 0.0136 0.0140 0.0159 -2.5 +18 3135644 MYOM1 C T 1 0.00239617 7.909 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0064 nonsynonymous_SNV exonic T 0.0039 0.0051 0.0125 -0.5 +18 3142040 MYOM1 G A 2 0.000399361 7.299 . . . 3.016e-05 nonsynonymous_SNV exonic D . 1.794e-05 . 6.5 +18 3164385 MYOM1 C T 54 0.16873 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2406 synonymous_SNV exonic . 0.2072 0.2097 0.1874 -2.5 +18 3168816 MYOM1 G A 45 0.282149 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.2619 synonymous_SNV exonic . 0.2648 0.2633 0.2740 -2.5 +18 3173873 MYOM1 G A 60 0.315895 . . . . . . intronic . 0.3240 . 0.3214 -2.5 +18 3173964 MYOM1 G A 60 0.316094 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3103 synonymous_SNV exonic . 0.3157 0.3126 0.3221 -2.5 +18 3174018 MYOM1 C T 40 0.192292 . . . . 0.2474 . intronic . 0.2582 0.2517 0.2667 -2.5 +18 3174056 MYOM1 C A 60 0.315695 . . . . . . intronic\x3bintronic . 0.3240 . 0.3206 -2.5 +18 3174064 MYOM1 G T 40 0.191893 . . . . . . intronic\x3bintronic . 0.2652 . 0.2669 -2.5 +18 3174076 MYOM1 A AAC 40 0.233427 . . . . 0.2490 . intronic\x3bintronic . 0.2591 0.2526 0.2682 -2.5 +18 3174084 MYOM1 C CAT 20 0.0810703 . . . . 0.0610 . intronic\x3bintronic . 0.0564 0.0595 0.0536 -2.5 +18 3174238 MYOM1 G A 7 0.00958466 . . . . 0.0310 . intronic . 0.0269 0.0297 0.0245 -2.5 +18 3176017 MYOM1 C T 39 0.191693 . . . . 0.2501 . intronic . 0.2556 0.2417 0.2665 -2.5 +18 3176040 MYOM1 C G 138 0.757188 -1.049 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7042 nonsynonymous_SNV exonic T 0.7156 0.7079 0.7326 -0.5 +18 3176063 MYOM1 C T 59 0.273163 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3057 synonymous_SNV exonic . 0.3116 0.3079 0.3207 -2.5 +18 3176190 MYOM1 A AACACACACAT 20 0.0808706 . . . . . . intronic . . . . -2.5 +18 3188715 MYOM1 T C 16 0.0898562 . . . . 0.0854 . intronic . 0.0573 0.0539 0.0461 -2.5 +18 3188778 MYOM1 C T 2 0.00219649 5.491 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0059 nonsynonymous_SNV exonic T 0.0056 0.0062 0.0047 2 +18 3188857 MYOM1 A G 16 0.0894569 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0577 synonymous_SNV exonic . 0.0589 0.0557 0.0462 -2.5 +18 3188873 MYOM1 G A 16 0.0716853 0.500 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0573 nonsynonymous_SNV exonic T 0.0586 0.0553 0.0458 -0.5 +18 3188927 MYOM1 G A 2 0.00379393 -0.419 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign 0.0011 nonsynonymous_SNV exonic T 0.0008 0.0010 0.0005 2 +18 3188976 MYOM1 A G 67 0.443291 2.095 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4155 nonsynonymous_SNV exonic T 0.4153 0.4177 0.4448 -0.5 +18 3214918 MYOM1 G C 34 0.286142 . MedGen:CN169374 not_specified Benign 0.2851 . intronic . 0.2615 0.2774 0.2847 -2.5 +18 3215004 MYOM1 G A 1 0.000199681 1.311 . . . . nonsynonymous_SNV exonic T . . . 4.5 +18 3215030 MYOM1 C A 9 0.0730831 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0652 synonymous_SNV exonic . 0.0565 0.0642 0.0665 -2.5 +18 3215083 MYOM1 T C 1 0.00259585 2.576 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0059 nonsynonymous_SNV exonic T 0.0025 0.0052 0.0125 -0.5 +18 3215131 MYOM1 G T 2 0.013778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0174 synonymous_SNV exonic . 0.0127 0.0154 0.0171 -2.5 +18 3215156 MYOM1 C G 11 0.128994 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0979 synonymous_SNV exonic . 0.0858 0.0915 0.0930 -2.5 +18 3215158 MYOM1 C G 11 0.127995 1.149 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0984 nonsynonymous_SNV exonic T 0.0859 0.0915 0.0930 -0.5 +18 3215230 MYOM1 C T 55 0.335663 . MedGen:CN169374 not_specified Benign 0.2652 . UTR5 . 0.2245 0.2252 0.2306 -2.5 +18 9102713 NDUFV2 G A 1 0.000199681 . . . . 6.274e-05 . UTR5 . . 1.314e-05 0 6.5 +18 9102738 NDUFV2 C T 1 0.000199681 . . . . 5.679e-05 . UTR5 . . 2.34e-05 . 6.5 +18 9117867 NDUFV2 T C 179 0.778954 0.840 MedGen:C1838867,OMIM:556500|MedGen:C1838979,OMIM:252010|MedGen:CN169374 Parkinson_disease,_mitochondrial|Mitochondrial_complex_I_deficiency|not_specified Benign 0.8157 nonsynonymous_SNV exonic T 0.8194 0.8155 0.8134 3.5 +18 9119489 NDUFV2 A T 19 0.0750799 . MedGen:C1838979,OMIM:252010|MedGen:CN169374 Mitochondrial_complex_I_deficiency|not_specified Likely_benign 0.1029 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1129 0.1060 0.0999 1.5 +18 9124799 na CT C 142 0.630391 . . . . . . ncRNA_intronic . . . 0.5882 -2.5 +18 9124909 NDUFV2 C G 1 0.000199681 5.999 . . . 3.022e-05 nonsynonymous_SNV exonic T . 5.374e-05 6.682e-05 8.5 +18 9126856 NDUFV2 G T 1 0.000199681 14.347 . . . 1.501e-05 stopgain exonic . . 8.956e-06 . 11.5 +18 9134344 na T C 1 0.00339457 . . . . . . ncRNA_intronic . . . 0.0099 0 +18 9134354 na C G 19 0.0754792 . MedGen:C1838979,OMIM:252010 Mitochondrial_complex_I_deficiency Likely_benign . . ncRNA_intronic . . . 0.0998 -2.5 +18 19358240 MIB1 G C 6 0.0071885 . . . . . . intronic . . . 0.0334 -2.5 +18 19418264 MIB1 A G 1 0.000199681 . . . . . . intronic . . . 0 2.5 +18 19423003 MIB1 T C 20 0.0872604 . . . . . . intronic . . . 0.0738 -2.5 +18 19427096 MIB1 A G 20 0.0878594 . MedGen:C3554496,OMIM:615092|MedGen:CN169374 Left_ventricular_noncompaction_7|not_specified Benign 0.0936 . intronic . 0.0848 0.0838 0.0745 -2.5 +18 19429173 MIB1 C T 1 0.000199681 7.064 . . . 1.507e-05 nonsynonymous_SNV exonic T . 9.844e-06 . 4.5 +18 19444661 MIB1 A C 20 0.0856629 . . . . 0.0805 . UTR3 . 0.0815 0.0793 0.0720 -2.5 +18 28647935 DSC2 T A 1 0.00519169 . MedGen:CN239181 Cardiomyopathy,_ARVC Likely_benign 0.0036 . UTR3 . . 0.0029 0.0043 4 +18 28647996 DSC2 T C 1 0.000199681 . . . . 0 synonymous_SNV exonic . . 0 . 6.5 +18 28647999 DSC2 T TTC 2 0.00359425 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype Benign 0.0122 frameshift_insertion exonic . 0.0134 0.0132 0.0171 7.125 +18 28648200 DSC2 C T 18 0.0199681 . . . . 0.0538 . intronic\x3bintronic . 0.0607 0.0592 0.0586 1.5 +18 28648975 DSC2 C T 9 0.0275559 0.324 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0540 nonsynonymous_SNV exonic T 0.0452 0.0517 0.0521 3.5 +18 28649042 DSC2 T C 15 0.196486 -1.683 MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0842 nonsynonymous_SNV exonic T 0.0837 0.0837 0.0794 3.5 +18 28649144 DSC2 G T 2 0.00579073 . . . . 0.0191 . intronic . 0.0186 0.0200 0.0233 1.5 +18 28649166 DSC2 A G 10 0.0611022 . MedGen:CN169374 not_specified Benign 0.0556 . intronic . 0.0498 0.0546 0.0477 1.5 +18 28650748 DSC2 A C 1 0.000599042 0.742 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN221565|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Arrhythmogenic_right_ventricular_dysplasia/cardiomyopathy|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0020 nonsynonymous_SNV exonic T 0.0013 0.0023 0.0024 8.5 +18 28654750 DSC2 G A 1 0.00219649 4.177 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0013 0.0013 0.0005 6 +18 28660379 DSC2 G A 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 +18 28666526 DSC2 T TTAA 214 0.996006 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 1.0000 . intronic . 1 1.0000 1 1.5 +18 28666646 DSC2 G A 1 0.000199681 5.339 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN517202 Cardiomyopathy|not_provided Conflicting_interpretations_of_pathogenicity 7.497e-05 nonsynonymous_SNV exonic T 0.0001 6.27e-05 . 8.5 +18 28669387 DSC2 C T 1 0.000399361 . . . . 1.5e-05 . intronic . . 8.959e-06 . 6.5 +18 28669470 DSC2 C A 1 0.000199681 2.982 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.957e-06 . 8.5 +18 28670946 DSC2 G C 1 0.00439297 . . . . 0.0117 . intronic . 0.0124 0.0130 0.0170 1.5 +18 28671068 DSC2 C T 1 0.000599042 0.476 . . . 6.066e-05 nonsynonymous_SNV exonic T . 5.381e-05 0 6 +18 28671130 DSC2 A G 1 0.000199681 . . . . 1.57e-05 . intronic . . 9.05e-06 . 6.5 +18 28672067 DSC2 T C 3 0.00379393 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0127 synonymous_SNV exonic . 0.0117 0.0125 0.0151 1.5 +18 28673565 DSC2 T C 25 0.123602 . MedGen:C1864850,OMIM:610476|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_11|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1111 synonymous_SNV exonic . 0.1210 0.1129 0.1185 1.5 +18 29078121 DSG2 G C 1 0.00738818 . MedGen:CN239181|MedGen:CN239310 Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Likely_benign . . UTR5 . . . 0.0043 4 +18 29078160 DSG2 G C 1 0.000399361 . MedGen:CN239181|MedGen:CN239310 Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Uncertain_significance . . UTR5 . . . 0.0027 4 +18 29078333 DSG2 C G 7 0.0189696 . . . . . . intronic . . . 0.0168 1.5 +18 29098253 DSG2 G T 1 0.000199681 . . . . 0.0003 . intronic . . 0.0003 0.0002 6.5 +18 29098254 DSG2 A G 1 0.000199681 . . . . 0.0003 . intronic . . 0.0003 0.0002 6.5 +18 29098323 DSG2 G A 73 0.369209 . . . . . . intronic . . . 0.3881 1.5 +18 29098345 DSG2 C T 43 0.219848 . . . . . . intronic . . . 0.2721 1.5 +18 29099850 DSG2 G A 1 0.000199681 5.774 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1857777,OMIM:610193|MedGen:C2752072,OMIM:612877|MedGen:C4053736,OMIM:604772|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|Dilated_cardiomyopathy_1BB|Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity,_risk_factor 0.0028 nonsynonymous_SNV exonic T 0.0035 0.0032 0.0023 6 +18 29101010 DSG2 G A 1 0.000599042 . . . . . . intronic . 0.0013 . 0.0007 4 +18 29101230 DSG2 T A 31 0.141374 . MedGen:CN169374 not_specified Benign 0.1127 . intronic . 0.0699 0.1085 0.1114 1.5 +18 29104564 DSG2 C A 44 0.211462 . MedGen:CN169374 not_specified Benign 0.2552 . intronic . 0.2609 0.2574 0.2649 1.5 +18 29104632 DSG2 A T 1 0.000399361 . . . . 0.0001 . intronic . 0.0002 0.0002 0.0003 6.5 +18 29104698 DSG2 C T 74 0.526558 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3687 synonymous_SNV exonic . 0.3787 0.3718 0.3792 1.5 +18 29104714 DSG2 A G 23 0.0323482 3.997 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0887 nonsynonymous_SNV exonic T 0.0859 0.0869 0.0929 3.5 +18 29104878 DSG2 G A 44 0.216254 . MedGen:CN169374 not_specified Benign 0.2574 . intronic . 0.2614 0.2602 0.2658 1.5 +18 29116462 DSG2 T C 33 0.14357 . . . . . . intronic . . . 0.1155 1.5 +18 29122618 DSG2 G A 14 0.0259585 1.194 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0739 nonsynonymous_SNV exonic T 0.0777 0.0748 0.0842 3.5 +18 29122799 DSG2 G A 41 0.240016 2.152 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2565 nonsynonymous_SNV exonic T 0.2540 0.2551 0.2602 3.5 +18 29125854 DSG2 A G 29 0.197484 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1076 synonymous_SNV exonic . 0.1076 0.1063 0.1080 1.5 +18 29126108 DSG2 T G 4 0.00319489 3.890 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736 Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0047 nonsynonymous_SNV exonic T 0.0050 0.0047 0.0047 7 +18 29126592 DSG2 C T 1 0.0103834 . MedGen:C1857777,OMIM:610193|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_10|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0051 synonymous_SNV exonic . 0.0040 0.0050 0.0043 1.5 +18 29126670 DSG2 T C 74 0.542931 . MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239310 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3705 synonymous_SNV exonic . 0.3777 0.3733 0.3807 1.5 +18 29171787 TTR C T 1 0.000399361 . . . . . . UTR5 . . . . 6.5 +18 29172865 TTR G A 9 0.0233626 -0.088 .|MedGen:CN169374|MedGen:CN230736 TRANSTHYRETIN_POLYMORPHISM|not_specified|Cardiovascular_phenotype Benign 0.0709 nonsynonymous_SNV exonic T 0.0780 0.0728 0.0812 3.5 +18 29178513 TTR G C 10 0.0660942 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign 0.0353 . intronic . 0.0383 0.0363 0.0442 1.5 +18 32335915 DTNA A G 19 0.0479233 . MedGen:CN169374 not_specified Benign 0.0835 . intronic . 0.0780 0.0825 0.0878 1.5 +18 32374062 DTNA G A 2 0.00139776 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1858725,OMIM:604169|MedGen:CN169374 Cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Left_ventricular_noncompaction_1|not_specified Benign/Likely_benign 0.0070 synonymous_SNV exonic . 0.0087 0.0086 0.0081 4 +18 32386101 DTNA C A 23 0.152356 . . . . . . intronic . . . 0.1285 1.5 +18 32386125 DTNA T C 35 0.1248 . . . . . . intronic . 0.1116 . 0.1177 1.5 +18 32386340 DTNA T C 23 0.152356 . . . . . . intronic . . . 0.1285 1.5 +18 32398330 DTNA G C 1 0.000199681 . . . . 1.74e-05 . UTR5\x3bUTR5 . . 9.444e-06 . 6.5 +18 32400909 DTNA AC A 22 0.114617 . . . . 0.1093 . intronic\x3bintronic . 0.1147 0.1120 0.1290 1.5 +18 32407495 DTNA G A 2 0.000399361 . . . . . . intronic . . . 0.0009 4 +18 32408892 DTNA A G 3 0.00758786 . . . . . . intronic . . . 0.0147 1.5 +18 32408900 DTNA T C 63 0.229633 . . . . . . intronic . . . 0.2638 1.5 +18 32408968 DTNA C A 1 0.000599042 . . . . 0.0014 . intronic . 0.0011 0.0016 0.0015 4 +18 32418186 DTNA T A 63 0.204073 . . . . 0.2563 . intronic . 0.2615 0.2592 0.2637 1.5 +18 32418189 DTNA A G 2 0.0361422 . . . . . . intronic . 0.0003 . 0.0003 1.5 +18 32418634 DTNA T A 20 0.0553115 . . . . . . intronic . . . 0.1282 1.5 +18 32418771 DTNA A C 1 0.000199681 2.223 . . . . nonsynonymous_SNV exonic T . . . 8.5 +18 32444040 DTNA G A 77 0.29373 . Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:CN169374 Left_ventricular_noncompaction_cardiomyopathy|not_specified Benign 0.3944 . intronic . 0.3304 0.3339 0.3532 1.5 +18 32455379 DTNA T C 30 0.128195 . MedGen:CN169374 not_specified Benign 0.1218 . intronic . 0.1264 0.1216 0.1417 1.5 +18 32459584 DTNA C G 1 0.000199681 3.167 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.952e-06 . 8.5 +18 32459697 DTNA G A 3 0.00559105 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1858725,OMIM:604169|MedGen:CN169374 Cardiomyopathy|Left_ventricular_noncompaction_1|not_specified Benign 0.0102 . intronic . 0.0105 0.0098 0.0189 1.5 +18 32459704 DTNA A G 53 0.262181 . . . . 0.2207 . intronic . 0.2241 0.2198 0.2124 1.5 +18 32470291 DTNA G A 48 0.266973 2.442 MedGen:CN169374 not_specified Benign 0.2485 nonsynonymous_SNV exonic . . 0.2083 0.1994 3.5 +18 32470459 DTNA C T 45 0.155551 . . . . . . UTR3 . . . 0.1937 1.5 +18 33935432 FHOD3 G A 1 0.000399361 . . . . . . intronic . . . 0.0003 6.5 +18 33952806 FHOD3 C A 1 0.000199681 . . . . . . intronic . . . 6.662e-05 6.5 +18 34081849 FHOD3 A G 77 0.225439 . . . . 0.4274 . intronic . 0.4057 0.4242 0.4410 1.5 +18 34092327 FHOD3 G C 15 0.0934505 . . . . . . intronic . . . 0.0644 1.5 +18 34156497 FHOD3 A G 1 0.0660942 0.448 . . . 0.0051 nonsynonymous_SNV exonic T 0.0043 0.0053 0.0051 3.5 +18 34182800 FHOD3 A G 73 0.257188 . . . . . . intronic . . . 0.3022 1.5 +18 34191954 FHOD3 G A 1 0.000199681 3.056 . . . 0 nonsynonymous_SNV exonic T . 0 . 8.5 +18 34205415 FHOD3 T C 30 0.128195 . . . . . . intronic . . . 0.1417 1.5 +18 34205551 FHOD3 C T 14 0.0872604 2.410 . . . 0.0594 synonymous_SNV exonic . 0.0604 0.0583 0.0555 1.5 +18 34232543 FHOD3 G A 7 0.0165735 -0.091 . . . 0.0383 nonsynonymous_SNV exonic . . 0.0274 0.0249 3.5 +18 34232610 FHOD3 C T 57 0.319489 1.357 . . . 0.3083 nonsynonymous_SNV exonic . . 0.2812 0.2817 6.5 +18 34232657 FHOD3 G A 38 0.0702875 -0.089 . . . 0.1429 nonsynonymous_SNV exonic . . 0.1779 0.1720 3.5 +18 34232952 FHOD3 T C 56 0.3125 . . . . . . intronic . . . 0.2805 4.5 +18 34233231 FHOD3 C T 103 0.571086 . . . . . . intronic . . . 0.4975 1.5 +18 34233356 FHOD3 C G 1 0.00299521 2.577 . . . 0 nonsynonymous_SNV exonic . . 4.469e-05 0 6 +18 34238093 FHOD3 A C 1 0.000199681 1.407 . . . . nonsynonymous_SNV exonic T . . . 8.5 +18 34238217 FHOD3 G A 1 0.00299521 . . . . . . intronic . . . 0 4 +18 34261559 FHOD3 T A 100 0.460264 . . . . 0.4992 . intronic . 0.4265 0.4859 0.4886 7.5 +18 34261581 FHOD3 AG A 145 0.63099 . . . . 0.6588 . intronic . 0.6421 0.6536 0.6544 1.5 +18 34273111 FHOD3 C G 12 0.0107827 . . . . . . intronic . . . 0.0333 1.5 +18 34273149 FHOD3 A C 1 0.000399361 . . . . 0.0029 . intronic . 0.0013 0.0021 0.0017 4 +18 34273279 FHOD3 C G 44 0.0902556 1.318 . . . 0.1783 nonsynonymous_SNV exonic T 0.1810 0.1802 0.1770 3.5 +18 34273440 FHOD3 C T 103 0.476238 . . . . . . intronic . . . 0.4874 1.5 +18 34289142 FHOD3 A G 11 0.014976 -1.504 . . . 0.0385 nonsynonymous_SNV exonic T 0.0335 0.0360 0.0318 3.5 +18 34289245 FHOD3 C T 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . . 0.0001 6.666e-05 6.5 +18 34289285 FHOD3 G T 3 0.00579073 4.122 . . . 0.0200 nonsynonymous_SNV exonic T 0.0236 0.0220 0.0223 3.5 +18 34289364 FHOD3 G A 44 0.0760783 . . . . 0.1804 . intronic . 0.1782 0.1801 0.1765 1.5 +18 34297753 FHOD3 C T 70 0.419329 . . . . 0.3717 . intronic . 0.3933 0.3751 0.3775 1.5 +18 34298542 FHOD3 G A 1 0.00379393 3.308 . . . 0.0018 nonsynonymous_SNV exonic T 0.0023 0.0022 0.0017 6 +18 34298732 FHOD3 G C 65 0.395367 . . . . . . intronic . . . 0.3388 4.5 +18 34298737 FHOD3 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 +18 34310668 FHOD3 C T 64 0.319489 . . . . 0.3239 synonymous_SNV exonic . 0.3427 0.3299 0.3368 4.5 +18 34322621 FHOD3 C A 1 0.000199681 . . . . . . intronic . . . 0.0008 4 +18 34322877 FHOD3 G A 2 0.00139776 . . . . . . intronic . . . 0.0033 4 +18 34324091 FHOD3 G A 64 0.376198 3.145 . . . 0.3054 nonsynonymous_SNV exonic T 0.3263 0.3112 0.3166 6.5 +18 34324190 FHOD3 C T 63 0.302117 . . . . 0.3050 . intronic . 0.3251 0.3107 0.3158 4.5 +18 34335047 FHOD3 C T 1 0.000798722 . . . . 0.0003 . intronic . 0.0002 6.568e-05 0 4 +18 34340773 FHOD3 T C 1 0.000199681 . . . . 8.94e-05 . intronic . 0.0002 3.248e-05 6.668e-05 6.5 +18 34349434 FHOD3 C T 1 0.000399361 . . . . 0.0009 . intronic . 0.0006 0.0009 0.0011 4 +19 16591464 CALR3 G A 160 0.650559 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7109 synonymous_SNV exonic . 0.7043 0.7065 0.7044 5.125 +19 16593198 CALR3 A G 55 0.175319 . . . . . . intronic . . . 0.0006 1.5 +19 16593203 CALR3 A G 105 0.43131 . . . . . . intronic . . . 0.6976 1.5 +19 16593213 CALR3 AAAAC A 55 0.175319 . . . . . . intronic . . . . 1.5 +19 16593318 CALR3 C T 1 0.00539137 . MedGen:C3151266,OMIM:613875|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|Cardiovascular_phenotype|not_provided Benign 0.0160 synonymous_SNV exonic . 0.0167 0.0151 0.0208 2.125 +19 16593415 CALR3 G A 160 0.660144 . . . . 0.7113 . intronic\x3bintronic . 0.7048 0.7067 0.7043 4.5 +19 16593573 CALR3 G A 33 0.144569 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.1648 synonymous_SNV exonic . 0.1692 0.1645 0.1682 2.125 +19 16594967 CALR3 A G 160 0.659744 . . . . 0.7098 . intronic . 0.7026 0.6971 0.6996 1.5 +19 16594979 CALR3 C T 162 0.692492 . . . . . . intronic . . . 0.6956 1.5 +19 16594989 CALR3 C T 111 0.510583 . . . . . . intronic . . . 0.0022 1.5 +19 16601154 CALR3 T C 159 0.603035 . . . . 0.7052 . intronic . 0.6966 0.7005 0.6989 1.5 +19 16601168 CALR3 G A 29 0.114018 . MedGen:C3151266,OMIM:613875|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_provided Benign 0.1362 . intronic . 0.1415 0.1389 0.1474 2.125 +19 16601194 CALR3 C T 159 0.658946 . MedGen:C3151266,OMIM:613875|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_19|not_specified|Cardiovascular_phenotype|not_provided Benign 0.7102 synonymous_SNV exonic . 0.7038 0.7052 0.7030 2.125 +19 16601358 CALR3 G C 1 0.000199681 6.383 . . . 1.498e-05 nonsynonymous_SNV exonic T . 5.371e-05 0 8.5 +19 16601411 CALR3 A T 4 0.0355431 . . . . 0.0533 . intronic . 0.0564 0.0537 0.0555 4.5 +19 16606589 CALR3 A G 1 0.000199681 6.072 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.951e-06 . 8.5 +19 16606727 CALR3 G A 4 0.00179712 . . . . . . intronic . . . 0.0065 5 +19 16606742 CALR3 G C 193 0.802316 . . . . . . intronic . . . 0.8728 7.5 +19 16606766 CALR3 G C 193 0.810104 . . . . . . intronic . . . 0.8726 7.5 +19 16606821 CALR3 C T 1 0.000798722 . . . . 0.0055 . intronic . 0.0028 0.0040 0.0024 4 +19 35521779 SCN1B G T 63 0.148163 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Generalized_epilepsy_with_febrile_seizures_plus|not_specified Benign 0.5 . intronic . . 0.3 0.2054 -2.5 +19 35524558 SCN1B C T 1 0.000199681 . . . . . synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . . . . 2.5 +19 35524824 SCN1B T C 112 0.377596 -0.608 MedGen:CN169374 not_specified Benign 0.4522 nonsynonymous_SNV exonic T 0.3721 0.3838 0.3918 -0.5 +19 35524836 SCN1B G A 1 0.000399361 1.067 MedGen:C1858672,OMIM:604233|MedGen:C2748541,OMIM:612838|MedGen:C3809311,OMIM:615377|MedGen:C4479236,OMIM:617350|MedGen:CN169374|MedGen:CN517202 Generalized_epilepsy_with_febrile_seizures_plus,_type_1|Brugada_syndrome_5|Atrial_fibrillation,_familial,_13|Epileptic_encephalopathy,_early_infantile,_52|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0060 nonsynonymous_SNV exonic T 0.0047 0.0043 0.0039 2 +19 35524939 SCN1B C A 48 0.127396 3.869 MedGen:CN169374 not_specified Benign 0.1818 nonsynonymous_SNV exonic T 0.1455 0.1515 0.1693 -0.5 +19 35524944 SCN1B G C 48 0.119209 1.238 MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.1828 nonsynonymous_SNV exonic T 0.1454 0.1515 0.1690 -0.5 +19 35530073 SCN1B T C 7 0.0155751 . EFO:EFO_0005137,MedGen:C2748542|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2748541,OMIM:612838|MedGen:C3502809,Orphanet:ORPHA36387|MedGen:CN169374|MedGen:CN230736 Cardiac_conduction_defect,_nonspecific|Brugada_syndrome|Brugada_syndrome_5|Generalized_epilepsy_with_febrile_seizures_plus|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0311 synonymous_SNV exonic . 0.0321 0.0315 0.0290 -2.5 +19 35530482 SCN1B C T 1 0.000199681 . . . . . . intronic . . . . 2.5 +19 35530514 SCN1B T G 3 0.0081869 . . . . 0.0144 . intronic . 0.015 0.0144 0.0155 -2.5 +19 35530525 SCN1B C A 3 0.00798722 . MedGen:CN169374 not_specified Benign 0.0145 . intronic . 0.0151 0.0145 0.0156 -2.5 +19 35530580 SCN1B G A 2 0.000399361 5.991 MedGen:C2748541,OMIM:612838|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome_5|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic D 0.0005 0.0004 0.0005 4 +19 35530586 SCN1B G A 1 0.000199681 5.849 MedGen:CN169374 not_specified Uncertain_significance 1.501e-05 nonsynonymous_SNV exonic D . 2.686e-05 6.682e-05 6.5 +19 35530690 SCN1B C G 16 0.0383387 . . . . . . intronic . . . 0.0998 -2.5 +19 46273462 DMPK CCAGCAGCAGCAGCAGCAGCAGCAGCAG C 181 0.891573 . . . . . . UTR3 . . . 0.1495 -2.5 +19 46273522 DMPK G T 1 0.000399361 . . . . . . UTR3 . . . 0.0002 2.5 +19 46273627 DMPK G A 2 0.000399361 . . . . . . UTR3 . . . 0.0011 0 +19 46274171 DMPK A C 110 0.608227 . . . . . . intronic\x3bintronic . . . 0.4713 -2.5 +19 46274357 DMPK G A 2 0.00299521 . . . . 0.0272 . intronic\x3bintronic . 0.0125 0.0143 0.0147 -2.5 +19 46274392 DMPK G C 14 0.0543131 . . . . 0.1128 . intronic\x3bintronic . . 0.0478 0.0557 -2.5 +19 46274553 DMPK G A 11 0.0177716 0.279 . . . 0.0583 . intronic . 0.0519 0.0545 0.0524 -2.5 +19 46274624 DMPK G A 1 0.00559105 3.047 . . . 0.0161 nonsynonymous_SNV exonic T 0.0149 0.0168 0.0170 -0.5 +19 46274650 DMPK G A 1 0.000199681 . . . . 1.521e-05 synonymous_SNV exonic . . 9.159e-06 . 2.5 +19 46274701 DMPK G A 1 0.000199681 . . . . 1.536e-05 . intronic . . 9.099e-06 . 2.5 +19 46274972 DMPK A C 110 0.576078 . . . . 0.4591 . intronic\x3bintronic . 0.4529 0.4598 0.4690 -2.5 +19 46275976 DMPK G C 22 0.145168 2.333 MedGen:CN169374 not_specified Benign 0.1182 nonsynonymous_SNV exonic T 0.1129 0.1127 0.1273 -0.5 +19 46276056 DMPK C A 110 0.53754 . . . . 0.4710 . intronic . 0.4545 0.4646 0.4699 -2.5 +19 46278189 DMPK G A 1 0.00559105 . . . . 0.0001 . intronic . . 9.925e-05 0.0001 0 +19 46280783 DMPK C T 1 0.000199681 . . . . 1.523e-05 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . . 9.021e-06 . 2.5 +19 46280917 DMPK G A 2 0.00599042 . MedGen:CN517202 not_provided Likely_benign 0.0044 . intronic\x3bintronic\x3bintronic . 0.0044 0.0045 0.0038 0 +19 46281893 DMPK C T 1 0.000199681 3.368 . . . 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0005 0.0002 2 +19 46282503 DMPK A C 23 0.122604 . . . . 0.1229 . intronic . 0.1176 0.1199 0.1355 -2.5 +19 46282683 DMPK G A 3 0.0127796 . . . . 0.0086 . intronic\x3bintronic . 0.0093 0.0092 0.0086 -2.5 +19 46285498 DMPK G A 1 0.000199681 2.577 . . . 0.0001 nonsynonymous_SNV exonic T . 6.554e-05 . 4.5 +19 47104678 CALM3 C A 4 0.00379393 . MedGen:CN169374 not_specified Benign 0.0292 . UTR5 . 0.0106 0.0177 0.0171 -2.5 +19 47104779 CALM3 A C 5 0.0249601 . . . . . . intronic . . . 0.0241 -2.5 +19 47109011 CALM3 T C 152 0.843051 . . . . . . intronic . 0.6911 . 0.6943 -2.5 +19 47109190 CALM3 G A 1 0.000199681 . . . . . . intronic . . . . 2.5 +19 47111663 CALM3 T C 152 0.846446 . . . . . . intronic\x3bintronic . . . 0.6779 -2.5 +19 47111722 CALM3 CT C 1 0.000798722 . MedGen:CN169374 not_specified Likely_benign 0.0009 . intronic . 0.0038 0.0006 0.0004 0 +19 47112159 CALM3 G A 1 0.000199681 . . . . 1.549e-05 synonymous_SNV exonic . . 9.184e-06 . 2.5 +19 47112357 CALM3 CCT C 3 0.00599042 . MedGen:CN169374 not_specified Likely_benign 0.0179 . intronic . 0.0251 0.0189 0.0224 -2.5 +19 47112464 CALM3 C T 1 0.000399361 . . . . . . UTR3 . . . . 2.5 +19 47258674 FKRP C T 55 0.103834 . MedGen:CN169374 not_specified Benign 0.2892 . UTR5 . 0.2281 0.2502 0.2510 7.5 +19 47258842 FKRP C T 32 0.15016 . MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:C1847759,OMIM:606612|MedGen:C3150413,OMIM:613153|MedGen:CN169374 Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|Congenital_muscular_dystrophy-dystroglycanopathy_(with_or_without_mental_retardation)_type_B5|Congenital_muscular_dystrophy-dystroglycanopathy_with_brain_and_eye_anomalies_type_A5|not_specified Benign 0.1651 synonymous_SNV exonic . 0.1418 0.1404 0.1368 7.5 +19 47258956 FKRP C T 2 0.0061901 . MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|not_specified Benign 0.0214 synonymous_SNV exonic . 0.0134 0.0141 0.0133 1.5 +19 47259048 FKRP C G 9 0.0061901 0.398 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C1846672,OMIM:607155,Orphanet:ORPHA34515|MedGen:CN169374 Walker-Warburg_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C5|not_specified Conflicting_interpretations_of_pathogenicity 0.0384 nonsynonymous_SNV exonic D 0.0106 0.0148 0.0117 3.5 +19 47259134 FKRP C A 4 0.00259585 1.067 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:CN169374|MedGen:CN517202 Walker-Warburg_congenital_muscular_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0173 nonsynonymous_SNV exonic D 0.0049 0.0068 0.0049 3.5 +19 47259488 FKRP G A 2 0.000399361 1.329 . . . . nonsynonymous_SNV exonic D . . . 8.5 +19 49661112 TRPM4 G A 61 0.150359 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.3171 . UTR5 . . 0.2925 0.2875 1.5 +19 49661274 TRPM4 T G 1 0.000199681 . . . . . . intronic . . . . 6.5 +19 49661547 TRPM4 A G 29 0.223642 . . . . 0.1388 . intronic . 0.1345 0.1361 0.1317 1.5 +19 49661582 TRPM4 T C 180 0.599441 . . . . . . intronic . 0.8564 . 0.8580 1.5 +19 49669486 TRPM4 C G 1 0.0319489 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.0036 . intronic . 0.0026 0.0021 0.0019 7.5 +19 49671118 TRPM4 C T 1 0.0207668 . . . . . . intronic . . . 0 1.5 +19 49671151 TRPM4 G A 72 0.338858 . . . . 0.3324 . intronic . 0.3301 0.0765 0.1357 1.5 +19 49671207 TRPM4 G A 6 0.0159744 0.454 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign 0.0222 nonsynonymous_SNV exonic T 0.0187 2.801e-05 0.0114 3.5 +19 49671212 TRPM4 T G 6 0.0159744 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign 0.0222 synonymous_SNV exonic . 0.0187 1.867e-05 0.0113 1.5 +19 49671281 TRPM4 G A 12 0.0910543 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0500 synonymous_SNV exonic . 0.0423 0.0456 0.0403 1.5 +19 49671482 TRPM4 C T 1 0.00219649 . . . . 0.0053 . intronic . 0.0051 0.0049 0.0040 4 +19 49671507 TRPM4 G A 2 0.0119808 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block Benign/Likely_benign 0.0233 . intronic . 0.0257 0.0244 0.0296 1.5 +19 49671771 TRPM4 C T 6 0.0159744 . . . . 0.0224 . intronic . 0.0186 0.0205 0.0309 7.5 +19 49671893 TRPM4 C T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +19 49671980 TRPM4 G A 6 0.0157748 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0435 synonymous_SNV exonic . 0.0185 0.0225 0.0307 7.5 +19 49674722 TRPM4 G A 4 0.00359425 . . . . 0.0091 . intronic . 0.0070 0.0083 0.0077 5 +19 49674846 TRPM4 C T 1 0.000798722 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0045 synonymous_SNV exonic . 0.0056 0.0046 0.0074 4 +19 49675017 TRPM4 G T 10 0.0597045 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0455 synonymous_SNV exonic . 0.0372 0.0418 0.0381 1.5 +19 49675038 TRPM4 G GGGGC 2 0.0279553 . MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block Likely_benign 0.0030 . intronic . 0.0023 0.0024 0.0020 1.5 +19 49675233 TRPM4 C T 12 0.0914537 . . . . 0.0488 . intronic . 0.0421 0.0454 0.0403 1.5 +19 49675366 TRPM4 G A 1 0.000399361 4.520 Gene:8184,MedGen:C1970298,OMIM:604559 Progressive_familial_heart_block_type_1B Likely_pathogenic 3.004e-05 . splicing . . 4.476e-05 6.684e-05 6.5 +19 49675439 TRPM4 A G 1 0.000199681 . . . . . . intronic . . . 0.0012 4 +19 49675456 TRPM4 C T 6 0.00599042 . . . . . . intronic . . . 0.0310 7.5 +19 49684586 TRPM4 T A 5 0.0145767 . MedGen:CN169374 not_specified Benign 0.0576 . intronic . 0.0581 0.0601 0.0640 4.5 +19 49684787 TRPM4 CTTTTTTTTTT C 6 0.0181709 . . . . . . intronic . . . 0.0346 1.5 +19 49685794 TRPM4 C T 1 0.000199681 . . . . 0.0009 . intronic . 0.0003 0.0007 0.0001 4 +19 49685865 TRPM4 G A 1 0.000399361 6.830 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Progressive_familial_heart_block_type_1B|Brugada_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic D 0.0010 0.0005 0.0003 8 +19 49686028 TRPM4 CCAAAGCCCCAGCCCTAAAAGGGGGAGCTGCGGAGCT C 1 0.00439297 . Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Progressive_familial_heart_block_type_1B|Brugada_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0112 nonframeshift_deletion exonic . 0.0098 0.0111 0.0113 1.5 +19 49686146 TRPM4 G A 1 0.000399361 6.169 EFO:EFO_0004278,MeSH:D016757,MedGen:C0085298,SNOMED_CT:95281009|Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374 Sudden_cardiac_death|Progressive_familial_heart_block_type_1B|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 stopgain exonic . 0.0011 0.0020 0.0015 9 +19 49691870 TRPM4 C T 3 0.00878594 . . . . 0.0060 . intronic . 0.0059 0.0057 0.0059 4 +19 49691871 TRPM4 G A 1 0.00119808 . . . . 0.0027 . intronic . 0.0045 0.0031 0.0028 4 +19 49691898 TRPM4 G A 1 0.000399361 2.616 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Progressive_familial_heart_block_type_1B|Brugada_syndrome|not_specified Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0010 0.0006 0.0003 6 +19 49692171 TRPM4 T G 1 0.000199681 . . . . . . intronic . . 9.095e-06 6.673e-05 6.5 +19 49692373 TRPM4 C G 64 0.34365 . . . . 0.3191 . intronic . 0.3220 0.3186 0.2959 1.5 +19 49694029 TRPM4 G A 2 0.00339457 -1.018 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374 Progressive_familial_heart_block_type_1B|not_specified Benign 0.0017 nonsynonymous_SNV exonic T 0.0017 0.0018 0.0026 6 +19 49699866 TRPM4 C T 16 0.11242 . MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736 not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype Benign/Likely_benign 0.0910 synonymous_SNV exonic . 0.0411 0.0515 0.0461 1.5 +19 49700017 TRPM4 G A 1 0.00179712 3.333 Gene:8184,MedGen:C1970298,OMIM:604559|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Progressive_familial_heart_block_type_1B|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0044 nonsynonymous_SNV exonic T 0.0016 0.0017 0.0011 6 +19 49703799 TRPM4 T G 2 0.00259585 . . . . . . intronic . . . 0.0061 4 +19 49713732 TRPM4 G A 1 0.000599042 . . . . . . intronic . . . 0.0009 4 +19 49714732 TRPM4 C G 3 0.0203674 . MedGen:CN169374 not_specified Benign 0.0039 . intronic . 0.0027 0.0037 0.0029 1.5 +19 49714839 TRPM4 C T 3 0.00199681 . MedGen:CN206278,Orphanet:ORPHA871 Progressive_familial_heart_block Uncertain_significance . . UTR3 . 0.0016 . 0.0024 4 +19 49714878 TRPM4 T A 1 0.000199681 . . . . . . UTR3 . . . . 6.5 +19 55665349 TNNI3 A G 1 0.00159744 . . . . 0.0015 . intronic . 0.0014 0.0019 0.0020 4 +19 55665410 TNNI3 C T 20 0.0477236 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0718 unknown exonic . 0.0658 0.0710 0.0649 1.5 +19 55665584 TNNI3 A C 214 1 . Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN239479 Ciliary_dyskinesia|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Nemaline_Myopathy,_Recessive Benign/Likely_benign 1 . intronic . . 1 1 2.75 +19 55666036 TNNI3 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 +19 55666281 TNNI3 C G 1 0.000998403 . . . . . . intronic . . . 0.0006 4 +19 55667500 TNNI3 A T 1 0.137181 . . . . . . intronic . . . 0.0283 1.5 +19 55667647 TNNI3 C A 21 0.0227636 2.843 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0649 unknown exonic . 0.0505 0.0567 0.0546 1.5 +19 55667871 TNNI3 C A 1 0.000199681 . . . . . . intronic . . . 6.682e-05 6.5 +19 55667958 TNNI3 C T 2 0.076877 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.0049 . intronic . 0.0036 0.0028 0.0019 2.75 +19 55668105 TNNI3 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +19 55668116 TNNI3 T C 1 0.000199681 . . . . . . intronic . . . 6.689e-05 6.5 +19 55668397 TNNI3 C T 20 0.0477236 . MedGen:CN169374 not_specified Benign 0.1201 . intronic . 0.0622 0.0708 0.0655 1.5 +19 55668509 TNNI3 A T 51 0.458067 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.2431 . intronic . 0.1948 0.2053 0.1976 2.75 +19 55668819 TNNI3 A G 48 0.247204 . . . . . . intronic . . . 0.1669 1.5 +19 55668848 TNNI3 G C 25 0.0716853 . . . . . . intronic . 0.0679 . 0.0608 1.5 +19 55668992 TNNI3 G T 2 0.076877 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0012265,MedGen:C0008780,Orphanet:ORPHA244|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN239222|MedGen:CN239247 Hypertrophic_cardiomyopathy|Ciliary_dyskinesia|Familial_restrictive_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Recessive|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.0029 . UTR5 . 0.0033 0.0028 0.0019 2.75 +19 55669004 TNNI3 G A 1 0.00259585 . MedGen:CN169374 not_specified Likely_benign 0.0113 . UTR5 . 0.0094 0.0105 0.0086 1.5 +19 55669055 TNNI3 G T 1 0.00519169 . MedGen:CN169374 not_specified Uncertain_significance 0.0169 . UTR5 . . 0.0159 0.0127 4.5 +1 2985808 PRDM16 T C 26 0.0347444 . . . . 0.0003 . UTR5 . . 0 . -2.5 +1 2985885 PRDM16 C G 75 0.360224 . . . . 0.4481 . intronic . 0.3766 0.4203 0.4220 -2.5 +1 3102751 PRDM16 G A 1 0.00119808 3.057 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0029 nonsynonymous_SNV exonic T 0.0025 0.0029 0.0035 2 +1 3102852 PRDM16 G A 1 0.00119808 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0033 synonymous_SNV exonic . 0.0029 0.0020 0.0014 0 +1 3301721 PRDM16 C T 56 0.340455 . MedGen:CN169374 not_specified Benign 0.2706 synonymous_SNV exonic . 0.2668 0.2715 0.2782 -2.5 +1 3313213 PRDM16 G A 2 0.00379393 . . . . . . intronic . . . 0.0080 0 +1 3319339 PRDM16 G A 14 0.0213658 . MedGen:CN169374 not_specified Benign 0.0700 . intronic . . 0.0716 0.0743 -2.5 +1 3319461 PRDM16 C T 3 0.0115815 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign 0.0100 synonymous_SNV exonic . 0.0107 0.0098 0.0106 -2.5 +1 3319541 PRDM16 G A 1 0.000199681 1.963 . . . 3.09e-05 nonsynonymous_SNV exonic T . 2.738e-05 0 4.5 +1 3319601 PRDM16 ACCCTCCTCTGAGTCTTCCTCCCCTTCCCGTG A 54 0.35603 . . . . 0.1657 . intronic . 0.1776 0.1917 0.2823 -2.5 +1 3321303 PRDM16 C T 1 0.000199681 . . . . 1.529e-05 synonymous_SNV exonic . . 9.015e-06 . 2.5 +1 3322049 PRDM16 G A 1 0.000399361 . MedGen:C3809288,OMIM:615373 Left_ventricular_noncompaction_8 Likely_benign 8.107e-05 . intronic . 0.0002 0.0001 0.0003 2.5 +1 3327904 PRDM16 G A 3 0.00199681 . . . . 0.0061 . intronic . 0.0051 0.0055 0.0104 -2.5 +1 3327973 PRDM16 G A 2 0.00279553 . MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign 0.0059 synonymous_SNV exonic . 0.0054 0.0062 0.0070 0 +1 3328358 PRDM16 T C 181 0.945088 -0.543 MedGen:CN169374 not_specified Benign 0.8404 nonsynonymous_SNV exonic T 0.8356 0.8350 0.8459 -0.5 +1 3328499 PRDM16 G A 1 0.000599042 0.428 . . . 3.043e-05 nonsynonymous_SNV exonic T . 1.797e-05 6.685e-05 2 +1 3328646 PRDM16 G A 1 0.000199681 1.763 . . . 3.108e-05 nonsynonymous_SNV exonic T . 2.846e-05 0 4.5 +1 3328659 PRDM16 C T 48 0.10603 3.424 MedGen:CN169374 not_specified Benign 0.1636 nonsynonymous_SNV exonic T 0.1516 0.1563 0.1406 -0.5 +1 3329051 PRDM16 G A 1 0.000798722 -0.133 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Conflicting_interpretations_of_pathogenicity 0.0019 nonsynonymous_SNV exonic T 0.0024 0.0021 0.0016 2 +1 3329182 PRDM16 C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 1.06e-05 0 2.5 +1 3329213 PRDM16 G A 2 0.00119808 0.736 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0054 nonsynonymous_SNV exonic T 0.0020 0.0028 0.0025 2 +1 3329229 PRDM16 G C 1 0.000798722 4.698 MedGen:C3809288,OMIM:615373|MedGen:CN169374 Left_ventricular_noncompaction_8|not_specified Benign/Likely_benign 0.0070 nonsynonymous_SNV exonic T 0.0019 0.0042 0.0037 2 +1 3329384 PRDM16 C T 46 0.107029 . MedGen:CN169374 not_specified Benign 0.2361 . intronic . 0.1344 0.1476 0.1392 -2.5 +1 3331099 PRDM16 C T 2 0.00199681 . . . . 0.0124 . intronic . 0.0098 0.0096 0.0075 -2.5 +1 3331192 PRDM16 C T 1 0.000399361 6.541 . . . 1.596e-05 nonsynonymous_SNV exonic T . 9.228e-06 . 4.5 +1 3334598 PRDM16 C T 1 0.00539137 . . . . 0.0153 . intronic . 0.0090 0.0123 0.0164 -2.5 +1 3335162 PRDM16 A G 2 0.00319489 . . . . . . intronic . . . 6.699e-05 0 +1 3342109 PRDM16 G T 66 0.117412 . . . . 0.2240 . intronic . 0.2125 0.2169 0.1968 -2.5 +1 3342128 PRDM16 G A 1 0.00539137 . MedGen:CN169374 not_specified Benign 0.0185 . intronic . 0.0206 0.0203 0.0221 -2.5 +1 3342364 PRDM16 C T 11 0.0613019 . . . . 0.0403 . intronic . 0.0374 0.0422 0.0391 -2.5 +1 3342804 PRDM16 G T 61 0.379393 . MedGen:CN169374 not_specified Benign 0.2679 . intronic . 0.2724 0.2693 0.2621 -2.5 +1 3342817 PRDM16 A T 1 0.000399361 . . . . 0.0003 . intronic . 0.0004 0.0003 0.0003 2.5 +1 3350173 PRDM16 T C 71 0.403754 . . . . . . intronic . . . 0.0373 -2.5 +1 3350409 PRDM16 G A 4 0.0982428 . . . . 0.0286 . UTR3\x3bUTR3 . 0.0266 0.0277 0.0244 -2.5 +1 11905974 na A G 10 0.0309505 . . . . . . ncRNA_intronic . 0.0522 . 0.0545 -2.5 +1 11905981 na A G 24 0.179113 . . . . . . ncRNA_intronic . 0.1496 . 0.1394 0.5 +1 11905995 na C A 10 0.0221645 . . . . . . ncRNA_intronic . 0.0641 . 0.0516 0.5 +1 11906068 NPPA A G 24 0.179113 1.595 MedGen:CN169374 not_specified Benign 0.1343 stoploss exonic . 0.1552 0.1405 0.1399 0.5 +1 11906129 na G T 1 0.000199681 . . . . . . ncRNA_intronic . . . 0.0002 2.5 +1 11907603 na G A 14 0.129593 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Benign 0.0753 . ncRNA_exonic . 0.0877 0.0805 0.0878 0.5 +1 11907648 NPPA C T 3 0.0734824 0.267 . . . 0.0421 nonsynonymous_SNV exonic T 0.0471 0.0457 0.0459 -0.5 +1 26378362 TRIM63 C T 1 0.00219649 . . . . 0.0067 . UTR3 . 0.0086 0.0067 0.0072 4 +1 26378415 TRIM63 G A 1 0.000199681 . . . . 1.649e-05 . intronic . . 1.597e-05 . 6.5 +1 26383618 TRIM63 C G 2 0.0964457 . . . . . . intronic . . . 0.0020 1.5 +1 26383645 TRIM63 CCAGGGGT C 52 0.0926518 . . . . 0.2424 . intronic . 0.2340 0.2499 0.2500 1.5 +1 26383647 TRIM63 A G 1 0.000199681 . . . . 8.021e-05 . intronic . . 5.464e-05 . 6.5 +1 26383700 TRIM63 C G 1 0.000199681 2.499 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.954e-06 . 8.5 +1 26383875 TRIM63 A G 62 0.260783 . . . . . . intronic . . . 0.1927 7.5 +1 26384013 TRIM63 A G 59 0.117412 . . . . . . intronic . . . 0.1896 7.5 +1 26385003 TRIM63 T C 60 0.182308 1.211 . . . 0.2195 nonsynonymous_SNV exonic T 0.2165 0.2175 0.1920 9.5 +1 26385150 TRIM63 G C 60 0.156749 . . . . 0.2201 . intronic . 0.2160 0.2185 0.1917 7.5 +1 26386771 TRIM63 G A 1 0.000199681 1.871 . . . 3.001e-05 nonsynonymous_SNV exonic T 0.0001 2.687e-05 . 8.5 +1 26387625 TRIM63 A C 50 0.11881 . . . . 0.1856 . intronic . 0.1777 0.1796 0.1608 4.5 +1 26387783 TRIM63 G A 1 0.00119808 . . . . 0.0017 synonymous_SNV exonic . 0.0026 0.0021 0.0021 4 +1 26392824 TRIM63 C A 5 0.0183706 . . . . 0.0801 synonymous_SNV exonic . 0.0844 0.0864 0.1033 4.5 +1 26393974 TRIM63 C T 3 0.0415335 . . . . 0.0013 synonymous_SNV exonic . 0.0010 0.0011 0.0007 1.5 +1 74701107 TNNI3K C T 4 0.00559105 . . . . 0.0124 . UTR5 . 0.0136 0.0121 0.0129 -2.5 +1 74701295 na T A 214 0.976837 . . . . . . intronic . . . 0.9998 -2.5 +1 74701950 na T A 63 0.351837 . . . . . . intronic . . . 0.3146 0.5 +1 74716310 na C A 1 0.0692891 . . . . 0.0007 . intronic . 0.0010 0.0008 0.0005 -2.5 +1 74716515 na CT CTT,C 1 0.0299521 . . . . . . intronic . . . 0.0729 -2.5 +1 74716524 na T C 5 0.0299521 . . . . . . intronic . . . 0.0590 -2.5 +1 74737269 na T C 1 0.000399361 . . . . 0.0003 . intronic . 0.0003 0.0003 0.0001 2.5 +1 74737274 na C T 3 0.00579073 . . . . 0.0086 . intronic . 0.0083 0.0077 0.0054 0 +1 74801864 na A G 9 0.113019 . . . . 0.0450 . intronic . 0.0399 0.0422 0.0333 -2.5 +1 74801871 na G C 5 0.00339457 . . . . 0.0090 . intronic . 0.0081 0.0083 0.0095 1 +1 74801878 na G A 1 0.000199681 . . . . 0.0005 . intronic . 0.0001 0.0005 0.0004 0 +1 74808620 na G C 2 0.00119808 -2.697 . . . 0.0022 nonsynonymous_SNV exonic T 0.0016 0.0025 0.0025 2 +1 74808631 na C T 1 0.00199681 5.184 . . . 0.0019 nonsynonymous_SNV exonic T 0.0024 0.0021 0.0017 2 +1 74818872 na G A 6 0.0535144 . . . . . . intronic . . . 0.0583 -2.5 +1 74819077 na T G 208 0.939097 . . . . 0.9439 . intronic . 0.9423 0.9427 0.9419 -2.5 +1 74832855 na C T 1 0.00159744 . . . . . . intronic . . . 0.0042 0 +1 74833505 na G A 1 0.00359425 . . . . . . intronic . . . 6.682e-05 0 +1 74836154 na T G 6 0.0535144 . . . . . . intronic . . . 0.0585 -2.5 +1 74901739 na CT C 119 0.540335 . . . . 0.1407 . intronic . . 0.2046 0.7326 -2.5 +1 74901829 na A C 8 0.0776757 . . . . 0.0610 . intronic . 0.06 0.0618 0.0600 -2.5 +1 74902244 na A G 8 0.0662939 . . . . 0.0615 . intronic . 0.0619 0.0616 0.0623 -2.5 +1 74929048 na T G 2 0.00319489 . . . . . . intronic . . . 0.0095 0 +1 74929075 na T C 3 0.0660942 . . . . 0.0074 . intronic . 0.0070 0.0065 0.0054 -2.5 +1 74929131 na C G 3 0.00858626 6.930 . . . 1.517e-05 nonsynonymous_SNV exonic D . 1.801e-05 . 4 +1 74954856 na C CT 4 0.081869 . . . . 0.0137 . intronic . 0.0168 0.0141 0.0117 -2.5 +1 74957896 na G C 1 0.000199681 7.042 . . . 7.503e-05 nonsynonymous_SNV exonic T 0.0001 7.168e-05 6.665e-05 4.5 +1 75005984 na C T 1 0.000199681 . . . . 3.016e-05 synonymous_SNV exonic . . 1.809e-05 . 2.5 +1 75006027 na A G 120 0.324481 . . . . 0.5609 . intronic . 0.5560 0.5610 0.5629 -2.5 +1 75006076 na G A 204 0.916334 . . . . . . intronic . . . 0.9599 -2.5 +1 75009539 na G A 1 0.000199681 . . . . 1.52e-05 . intronic . . 9.186e-06 . 2.5 +1 75009749 na A G 1 0.000199681 . . . . . . UTR3 . . . . 2.5 +1 78383467 NEXN G A 189 0.763778 . . . . 0.8609 . intronic . 0.8608 0.8613 0.8544 1.5 +1 78383669 NEXN G C 1 0.000199681 5.175 . . . 1.501e-05 nonsynonymous_SNV exonic T . 8.964e-06 . 8.5 +1 78383732 NEXN C T 1 0.000199681 . . . . 1.501e-05 . intronic . . 8.962e-06 . 6.5 +1 78390821 NEXN CA C 5 0.00938498 . . . . . . intronic . 0.0251 . 0.0159 1.5 +1 78391020 NEXN T C 4 0.0341454 . . . . . . intronic . . . 0.0173 1.5 +1 78392446 NEXN G A 48 0.150759 5.664 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.2142 nonsynonymous_SNV exonic T 0.2073 0.2106 0.2107 3.5 +1 78394997 NEXN T C 1 0.000199681 . . . . 1.518e-05 . intronic . . 9.197e-06 . 6.5 +1 78399207 NEXN C G 172 0.664537 . . . . 0.8164 . intronic . 0.8166 0.8183 0.8150 1.5 +1 78399212 NEXN T C 17 0.0944489 . . . . 0.0611 . intronic . 0.0437 0.0480 0.0394 1.5 +1 78407911 NEXN C G 1 0.00119808 . MedGen:CN169374 not_specified Benign 0.0030 . intronic . 0.0032 0.0035 0.0037 4 +1 78408536 NEXN C G 16 0.122005 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.1133 . UTR3 . 0.0849 0.0854 0.0861 1.5 +1 112318945 KCND3 C A 1 0.000199681 . . . . . . intronic . . 3.378e-05 . 2.5 +1 112319899 KCND3 C T 2 0.000399361 . . . . 5.994e-05 . intronic . . 3.599e-05 . 2.5 +1 112320984 KCND3 G A 1 0.0285543 . . . . . . intronic . . . 0.0007 -2.5 +1 112321032 KCND3 T A 26 0.192692 . . . . 0.1960 . intronic . 0.1974 0.1992 0.2087 0.5 +1 112329551 KCND3 G T 35 0.192692 . MedGen:CN169374 not_specified Benign 0.1492 . intronic . 0.1417 0.1469 0.1559 -2.5 +1 112524467 KCND3 G C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 2.5 +1 112524583 KCND3 G A 1 0.000199681 6.470 . . . . nonsynonymous_SNV exonic D . 0 . 6.5 +1 112524680 KCND3 C G 3 0.0081869 . MedGen:C1846367,OMIM:607346,Orphanet:ORPHA98772|MedGen:CN169374|MedGen:CN230736 Spinocerebellar_ataxia_19|not_specified|Cardiovascular_phenotype Benign 0.0201 synonymous_SNV exonic . 0.0186 0.0214 0.0253 -2.5 +1 112525085 KCND3 G A 14 0.0471246 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1233 synonymous_SNV exonic . 0.1205 0.1253 0.1178 -2.5 +1 115252142 NRAS A T 1 0.000199681 . . . . 1.501e-05 . intronic . . 8.958e-06 . 2.5 +1 115252280 NRAS C T 1 0.000199681 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Rasopathy|not_specified|not_provided Benign/Likely_benign 0.0005 synonymous_SNV exonic . 0.0006 0.0006 0.0005 0 +1 115256669 NRAS G A 144 0.8752 . . . . . . intronic . . . 0.6349 -2.5 +1 115258827 NRAS T G 46 0.202276 . . . . 0.0056 . intronic . . 0.0018 6.677e-05 -2.5 +1 115258830 NRAS C G 46 0.221446 . . . . 0.0612 . intronic . . 0.0331 . -2.5 +1 116243868 CASQ2 A G 14 0.0309505 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0638 synonymous_SNV exonic . 0.0614 0.0631 0.0689 1.5 +1 116243877 CASQ2 G A 106 0.425719 . Human_Phenotype_Ontology:HP:0045005,MedGen:C0027794,OMIM:182940,SNOMED_CT:253098009|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C1838569|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Neural_tube_defect|Catecholaminergic_polymorphic_ventricular_tachycardia|Caudal_dysgenesis_syndrome|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3619 synonymous_SNV exonic . 0.3573 0.3548 0.3609 1.5 +1 116245655 CASQ2 G C 61 0.216054 . . . . 0.2308 . intronic . 0.2029 0.2144 0.2207 1.5 +1 116247790 CASQ2 G A 60 0.428714 . MedGen:CN169374 not_specified Benign 0.3086 . intronic . 0.3197 0.3113 0.2918 1.5 +1 116260532 CASQ2 A T 134 0.642772 . MedGen:C2677794,OMIM:611938|MedGen:CN169374 Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign 0.5441 . intronic . 0.5505 0.5478 0.5345 1.5 +1 116260544 CASQ2 C T 74 0.250799 . . . . 0.2315 . intronic . 0.2274 0.2347 0.2379 1.5 +1 116260604 CASQ2 G A 134 0.630591 . . . . . . intronic . . . 0.5350 1.5 +1 116268154 CASQ2 C T 1 0.000399361 5.979 MedGen:CN169374 not_specified Uncertain_significance 7.518e-05 nonsynonymous_SNV exonic T . 0.0001 0 8.5 +1 116268178 CASQ2 GAA G 117 0.505391 . MedGen:CN169374 not_specified Benign 0.1114 . intronic . . . 0.5067 1.5 +1 116268283 CASQ2 C T 129 0.567292 . . . . . . intronic . . . 0.5268 1.5 +1 116269560 CASQ2 C T 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 +1 116275561 CASQ2 G C 1 0.000399361 5.974 MedGen:C0344432|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Ventricular_tachycardia,_polymorphic|Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic D 0.0010 0.0004 0.0007 8 +1 116283343 CASQ2 A G 188 0.64357 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified Benign 0.8689 . intronic . 0.8780 0.8748 0.8575 1.5 +1 116283526 CASQ2 G A 188 0.64357 . . . . . . intronic . . . 0.8575 1.5 +1 116310943 CASQ2 C A 1 0.000199681 11.767 . . . 1.498e-05 stopgain exonic . . 8.981e-06 . 11.5 +1 116310967 CASQ2 T C 79 0.401158 -1.622 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:C2677794,OMIM:611938|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Ventricular_tachycardia,_catecholaminergic_polymorphic,_2|not_specified|Cardiovascular_phenotype Benign 0.2837 nonsynonymous_SNV exonic T 0.2891 0.2901 0.2547 6.5 +1 116311198 CASQ2 T C 214 0.96246 . . . . 0.9990 . UTR5 . 0.9994 0.9992 0.9993 1.5 +1 147230217 GJA5 T C 167 0.880391 . . . . . . UTR3 . . . 0.7756 -2.5 +1 147230978 GJA5 G A 3 0.0163738 . MedGen:C1838539,OMIM:108770|MedGen:C3279693,OMIM:614049|MedGen:CN204347,Orphanet:ORPHA334 Atrial_standstill_1|Atrial_fibrillation,_familial,_11|Familial_atrial_fibrillation Benign/Likely_benign 0.0069 synonymous_SNV exonic . 0.0064 0.0065 0.0047 -2.5 +1 156084760 LMNA C T 2 0.00678914 . 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: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:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0371 synonymous_SNV exonic . 0.0126 0.0141 0.0116 2.75 +1 156104292 LMNA G A 5 0.00798722 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN043576|MedGen:CN118835|MedGen:CN169374|MedGen:CN230736|MedGen:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Charcot-Marie-Tooth_disease,_type_2|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0088 synonymous_SNV exonic . 0.0073 0.0083 0.0075 6.25 +1 156104375 LMNA G T 3 0.077476 . . . . . . intronic . . . 0.0236 1.5 +1 156104392 LMNA C T 3 0.0750799 . . . . . . intronic . . . 0.0236 1.5 +1 156104659 LMNA C T 1 0.000199681 4.678 . . . 1.5e-05 nonsynonymous_SNV exonic D . 8.951e-06 . 8.5 +1 156105028 LMNA T C 32 0.193091 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|Familial_partial_lipodystrophy|Lethal_tight_skin_contracture_syndrome|Emery-Dreifuss_muscular_dystrophy|Congenital_muscular_dystrophy,_LMNA-related|Mandibuloacral_dysplasia|not_specified|Cardiovascular_phenotype|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0745 synonymous_SNV exonic . 0.0751 0.0722 0.0712 2.125 +1 156105928 LMNA G A 31 0.192292 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|not_specified|not_provided Benign/Likely_benign 0.0733 . intronic . 0.0748 0.0713 0.0704 2.75 +1 156105961 LMNA C T 3 0.00219649 . MedGen:CN043576|MedGen:CN169374|MedGen:CN517202 Charcot-Marie-Tooth_disease,_type_2|not_specified|not_provided Benign 0.0106 . intronic\x3bintronic . 0.0069 0.0080 0.0131 1.5 +1 156106185 LMNA T C 31 0.249201 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|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|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.0978 synonymous_SNV exonic . 0.0760 0.0734 0.0717 2.125 +1 156106863 LMNA C T 31 0.182308 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0738 . intronic\x3bintronic . 0.0751 0.0714 0.0709 1.5 +1 156107470 LMNA G A 1 0.000199681 4.275 MedGen:C0031117,Orphanet:ORPHA98496|MedGen:C1834481,OMIM:613426|MedGen:CN043576|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Peripheral_neuropathy|Dilated_cardiomyopathy_1S|Charcot-Marie-Tooth_disease,_type_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0004 0.0005 0.0005 6.5 +1 156107534 LMNA C T 45 0.220248 . MedGen:C0033300,OMIM:176670,Orphanet:ORPHA740,SNOMED_CT:238870004|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:CN239171|MedGen:CN239184|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hutchinson-Gilford_syndrome|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|Charcot-Marie-Tooth,_Type_2|Lipoatrophy_with_Diabetes,_Hepatic_Steatosis,_Hypertrophic_Cardiomyopathy,_and_Leukomelanodermic_Papules|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign 0.2817 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.2531 0.2649 0.2486 2.125 +1 156108325 LMNA G A 1 0.000199681 7.313 MedGen:C1720860,OMIM:151660,Orphanet:ORPHA2348|MedGen:CN517202 Familial_partial_lipodystrophy_2|not_provided Pathogenic 0 nonsynonymous_SNV exonic D . 9.448e-06 6.674e-05 10.5 +1 156108610 LMNA G T 2 0.000998403 . . . . . . intronic . . . 0.0019 4 +1 156108976 LMNA G C 32 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3\x3bUTR3 . 0.0773 . 0.0708 1.5 +1 156109536 LMNA G A 4 0.00319489 . . . . 0.0189 . UTR3 . . 0.0141 0.0106 1.5 +1 162257246 NOS1AP A G 2 0.00599042 . . . . 0.0179 . intronic . 0.0174 0.0175 0.0128 -2.5 +1 162270589 NOS1AP T C 1 0.000199681 . . . . . . intronic\x3bintronic . . . . 2.5 +1 162302846 NOS1AP C T 2 0.00319489 . MedGen:CN517202 not_provided Benign 0.0040 synonymous_SNV exonic . 0.0041 0.0039 0.0051 0 +1 162313597 NOS1AP T C 208 0.925919 . . . . 0.9795 . intronic . 0.9816 0.9811 0.9811 -2.5 +1 162313735 NOS1AP C T 74 0.430911 . . . . 0.3647 synonymous_SNV exonic . 0.3571 0.3580 0.3632 -2.5 +1 162324934 NOS1AP G T 1 0.000998403 . . . . 1.502e-05 . intronic . . 4.487e-05 6.673e-05 0 +1 162325172 NOS1AP T G 1 0.000199681 . . . . 0.0003 . intronic . 0.0005 0.0003 0.0003 0 +1 162326755 NOS1AP G A 1 0.000599042 . . . . 7.499e-05 synonymous_SNV exonic . 0.0002 9.859e-05 0.0002 0 +1 162326851 NOS1AP C T 1 0.00159744 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Likely_benign 0.0088 synonymous_SNV exonic . 0.0073 0.0093 0.0083 0 +1 162335256 NOS1AP C T 37 0.250799 . . . . 0.1195 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.1199 0.1169 0.1075 -2.5 +1 162335289 NOS1AP G A 1 0.000199681 3.967 . . . . nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T . 0 . 2.5 +1 162335424 NOS1AP T C 176 0.719249 . . . . . . intronic\x3bintronic . . . 0.8912 -2.5 +1 201328267 TNNT2 G A 3 0.00678914 . . . . . . UTR3 . 0.0270 . 0.0278 1.5 +1 201328272 TNNT2 C T 7 0.00738818 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant Likely_benign . . UTR3 . 0.0330 . 0.0244 1.5 +1 201328301 TNNT2 G A 1 0.00159744 . . . . 0.0008 . UTR3 . 0.0003 0.0005 0.0005 4 +1 201328329 TNNT2 G A 1 0.000199681 . . . . 4.112e-05 . UTR3 . 0.0001 1.872e-05 . 6.5 +1 201328348 TNNT2 C A 1 0.000199681 8.083 . . . 1.935e-05 nonsynonymous_SNV exonic T . 9.261e-06 . 8.5 +1 201328705 TNNT2 G A 10 0.0113818 . . . . 0.0364 . intronic . 0.0283 0.0301 0.0266 1.5 +1 201328824 TNNT2 G A 23 0.277157 . MedGen:CN169374 not_specified Benign 0.1326 . intronic . 0.1020 0.0985 0.0993 1.5 +1 201328913 TNNT2 G C 23 0.277955 . . . . . . intronic . . . 0.0989 1.5 +1 201330429 TNNT2 T C 5 0.0974441 2.213 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0162 nonsynonymous_SNV exonic T 0.0148 0.0151 0.0179 4.75 +1 201330583 TNNT2 A G 12 0.170927 . . . . . . intronic . . . 0.1037 1.5 +1 201331240 TNNT2 C T 1 0.0341454 . . . . 0.0006 nonsynonymous_SNV exonic . . 0.0005 0.0003 3.5 +1 201331335 TNNT2 A G 12 0.165535 . . . . . . intronic . 0.1018 . 0.1040 1.5 +1 201331379 TNNT2 T C 12 0.165335 . . . . . . intronic . . . 0.1039 1.5 +1 201334382 TNNT2 G A 160 0.695088 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7147 synonymous_SNV exonic . 0.7184 0.7096 0.7202 1.5 +1 201334795 TNNT2 C T 23 0.0824681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Left_ventricular_noncompaction_cardiomyopathy|Familial_restrictive_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0634 0.0619 0.0617 1.5 +1 201335899 TNNT2 C T 214 0.98143 . . . . . . intronic . 0.9991 . 0.9994 1.5 +1 201336984 TNNT2 C T 97 0.285543 . MedGen:CN169374 not_specified Benign 0.4552 . intronic\x3bintronic . 0.4466 0.4556 0.4630 1.5 +1 201337340 TNNT2 G T 1 0.000199681 -0.485 . . . 1.501e-05 nonsynonymous_SNV exonic D . 8.954e-06 . 8.5 +1 201338553 TNNT2 T C 160 0.734625 . . . . . . intronic . 0.7219 . 0.7224 1.5 +1 201338586 TNNT2 A G 137 0.519169 . . . . . . intronic . . . 0.6254 1.5 +1 201338896 TNNT2 T C 137 0.529952 . . . . 0.6175 . intronic . 0.6210 0.6161 0.6255 1.5 +1 201339043 TNNT2 C T 142 0.536142 . . . . . . intronic . 0.6332 . 0.6326 1.5 +1 201339044 TNNT2 G A 12 0.0678914 . . . . . . intronic . 0.1009 . 0.1003 1.5 +1 201341175 TNNT2 CAGAAG C 137 0.520367 . . . . 0.6146 . intronic\x3bintronic . . 0.6134 0.6170 1.5 +1 201341341 TNNT2 C T 161 0.771765 . . . . . . intronic . 0.7244 . 0.7258 1.5 +1 227069677 PSEN2 T C 169 0.735623 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7801 synonymous_SNV exonic . 0.7801 0.7788 0.7619 1.5 +1 227069737 PSEN2 C T 141 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5425 synonymous_SNV exonic . 0.5388 0.5342 0.5173 1.5 +1 227071364 PSEN2 G A 141 0.443291 . . . . 0.5436 . intronic . 0.5378 0.5267 0.5175 1.5 +1 227071377 PSEN2 T C 168 0.624401 . . . . 0.7776 . intronic . 0.775 0.7722 0.7593 1.5 +1 227071383 PSEN2 C T 1 0.0219649 . . . . 0.0036 . intronic . 0.0026 0.0025 0.0014 1.5 +1 227071449 PSEN2 G A 1 0.0179712 2.001 MedGen:C0002395,OMIM:104300,SNOMED_CT:26929004|MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN239310|MedGen:CN517202 Alzheimer's_disease|Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic D 0.0026 0.0024 0.0015 3.5 +1 227071475 PSEN2 C T 1 0.00139776 5.492 MedGen:CN169374 not_specified Likely_benign 0.0037 nonsynonymous_SNV exonic D 0.0037 0.0039 0.0047 8 +1 227071525 PSEN2 C T 141 0.443291 . MedGen:C1847200,OMIM:606889|MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Alzheimer_disease,_type_4|Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.5418 synonymous_SNV exonic . 0.5395 0.5348 0.5179 1.5 +1 227071564 PSEN2 C T 2 0.000399361 . . . . 0.0001 synonymous_SNV exonic . . 8.065e-05 0 6.5 +1 227073410 PSEN2 G C 169 0.735623 . . . . 0.7806 . intronic . 0.78 0.7789 0.7620 1.5 +1 227073420 PSEN2 G A 1 0.000998403 . . . . 0.0025 . intronic . 0.0033 0.0026 0.0021 4 +1 227075920 PSEN2 A G 2 0.00419329 . . . . . . intronic . 0.0113 . 0.0214 1.5 +1 227075939 PSEN2 C T 4 0.00838658 . . . . . . intronic . . . 0.0186 1.5 +1 227076653 PSEN2 C G 1 0.000199681 . MedGen:CN043596|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|Dilated_Cardiomyopathy,_Dominant Uncertain_significance 0.0003 synonymous_SNV exonic . 0.0007 0.0004 0.0004 4 +1 227076671 PSEN2 T C 5 0.0291534 . MedGen:CN043596|MedGen:CN169374|MedGen:CN239310 Early-Onset_Familial_Alzheimer_Disease|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0064 synonymous_SNV exonic . 0.0073 0.0062 0.0057 1.5 +1 227078955 PSEN2 T C 169 0.722843 . . . . 0.7860 . intronic . 0.7797 0.7796 0.7624 1.5 +1 227081850 PSEN2 G A 146 0.574081 . . . . 0.5668 . intronic . 0.5608 0.5551 0.5390 1.5 +1 228399482 C1orf145 C G 143 0.721046 . . . . 0.6207 . ncRNA_intronic . 0.6129 0.6047 0.6098 -2.5 +1 228399519 OBSCN T A 1 0.00179712 3.232 MedGen:CN517202 not_provided Uncertain_significance 0.0075 nonsynonymous_SNV exonic D 0.0057 0.0058 0.0048 6 +1 228399671 OBSCN G A 2 0.0245607 4.150 . . . 0.0034 nonsynonymous_SNV exonic T 0.0018 0.0019 0.0016 3.5 +1 228399766 OBSCN T C 143 0.726238 . . . . 0.6233 synonymous_SNV exonic . 0.6178 0.6077 0.6101 1.5 +1 228399799 OBSCN C T 3 0.0507188 . . . . 0.0482 synonymous_SNV exonic . 0.037 0.0415 0.0477 1.5 +1 228401183 OBSCN G C 1 0.000998403 4.903 . . . 0.0002 nonsynonymous_SNV exonic D . 9.569e-05 0.0002 6 +1 228401329 OBSCN C T 1 0.00339457 . . . . 0.0130 synonymous_SNV exonic . 0.0074 0.0074 0.0067 1.5 +1 228402047 OBSCN A G 143 0.719848 . . . . 0.6132 synonymous_SNV exonic . 0.6095 0.6117 0.6098 1.5 +1 228402097 OBSCN C G 1 0.000199681 3.698 . . . . nonsynonymous_SNV exonic D . . . 8.5 +1 228402121 OBSCN A G 142 0.719649 3.331 . . . 0.6122 nonsynonymous_SNV exonic T 0.6065 0.6117 0.6104 3.5 +1 228402508 OBSCN C T 70 0.275759 . . . . 0.4016 synonymous_SNV exonic . 0.3900 0.3857 0.3888 1.5 +1 228402639 OBSCN C T 1 0.000199681 . . . . 1.536e-05 synonymous_SNV exonic . . 8.984e-06 . 6.5 +1 228403476 OBSCN C G 1 0.000199681 -1.394 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 8.5 +1 228403500 OBSCN A C 1 0.000199681 0.728 . . . . nonsynonymous_SNV exonic T . . . 8.5 +1 228404198 OBSCN G A 3 0.0535144 . . . . 0.0822 synonymous_SNV exonic . 0.0367 0.0404 0.0461 1.5 +1 228404305 OBSCN G A 1 0.00279553 -0.246 . . . 0.0171 nonsynonymous_SNV exonic T 0.0084 0.0089 0.0085 3.5 +1 228404368 OBSCN G A 1 0.000998403 0.297 . . . 0.0061 nonsynonymous_SNV exonic T 0.0019 0.0030 0.0017 6 +1 228404668 OBSCN T C 74 0.336462 . . . . 0.4046 . intronic . 0.3954 0.3952 0.3965 1.5 +1 228404901 OBSCN G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +1 228404997 OBSCN C T 6 0.0169728 . . . . 0.0407 . intronic . 0.0401 0.0415 0.0410 1.5 +1 228407010 OBSCN C T 72 0.285343 . . . . 0.4470 . intronic . . 0.3863 0.3856 1.5 +1 228407059 OBSCN G T 5 0.0135783 . . . . 0.0377 synonymous_SNV exonic . . 0.0369 0.0370 1.5 +1 228407260 OBSCN G A 72 0.277157 . . . . 0.4158 synonymous_SNV exonic . . 0.3813 0.3852 1.5 +1 228407265 OBSCN G A 1 0.0429313 0.971 . . . 0.0358 nonsynonymous_SNV exonic . . 0.0266 0.0339 3.5 +1 228407285 OBSCN C T 2 0.0307508 3.265 . . . 0.0033 nonsynonymous_SNV exonic . . 0.0020 0.0017 3.5 +1 228412106 OBSCN T C 75 0.412141 . . . . . . intronic . . . 0.3914 1.5 +1 228412227 OBSCN T C 75 0.41254 . . . . 0.3914 synonymous_SNV exonic . . 0.3905 0.3890 1.5 +1 228412228 OBSCN G A 73 0.284145 2.136 . . . 0.3856 nonsynonymous_SNV exonic T . 0.3850 0.3845 3.5 +1 228412308 OBSCN G A 75 0.41254 . . . . 0.3933 synonymous_SNV exonic . 0.3925 0.3930 0.3944 1.5 +1 228412415 OBSCN C T 1 0.000399361 1.038 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0001 8.5 +1 228431095 OBSCN A G 122 0.616613 . . . . 0.6797 synonymous_SNV exonic . 0.6828 0.6767 0.6910 1.5 +1 228431930 OBSCN C T 122 0.616813 . . . . . . intronic . . . 0.6915 1.5 +1 228432061 OBSCN C T 2 0.000599042 . . . . 0.0019 synonymous_SNV exonic . . 0.0019 0.0047 4 +1 228432264 OBSCN A T 11 0.0171725 0.066 . . . 0.0425 nonsynonymous_SNV exonic T 0.0401 0.0419 0.0395 3.5 +1 228432323 OBSCN T C 2 0.0832668 . . . . . . intronic . 0.0055 . 0.0035 1.5 +1 228433171 OBSCN C T 1 0.000798722 0.182 . . . 0.0009 nonsynonymous_SNV exonic T 0.0005 0.0007 0.0005 6 +1 228433217 OBSCN A G 122 0.616613 . . . . 0.6794 synonymous_SNV exonic . 0.6825 0.6768 0.6913 1.5 +1 228433346 OBSCN C T 2 0.0587061 . . . . 0.0039 synonymous_SNV exonic . 0.0028 0.0033 0.0029 1.5 +1 228434395 OBSCN T C 122 0.617612 . . . . 0.6794 synonymous_SNV exonic . 0.6833 0.6768 0.6906 1.5 +1 228434467 OBSCN T C 122 0.66254 . . . . 0.6802 synonymous_SNV exonic . 0.6824 0.6773 0.6917 1.5 +1 228437603 OBSCN T C 122 0.663738 . . . . . . intronic . . . 0.6912 1.5 +1 228437772 OBSCN G A 2 0.0611022 . . . . 0.0028 synonymous_SNV exonic . 0.0025 0.0027 0.0026 1.5 +1 228444297 OBSCN T G 69 0.159744 . . . . . . intronic . . . 0.3412 4.5 +1 228444318 OBSCN T G 122 0.617013 . . . . 0.6799 . intronic . 0.6821 0.6763 0.6907 1.5 +1 228444419 OBSCN C T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +1 228444565 OBSCN T A 214 1 0.030 . . . 1 nonsynonymous_SNV exonic T . 1 1 3.5 +1 228447463 OBSCN G A 2 0.00239617 0.355 . . . 0.0133 nonsynonymous_SNV exonic T 0.0110 0.0120 0.0103 3.5 +1 228447513 OBSCN T G 71 0.296925 . . . . 0.3844 . intronic . 0.3890 0.3837 0.3849 1.5 +1 228447519 OBSCN T A 71 0.296925 . . . . 0.3842 . intronic . 0.3890 0.3840 0.3850 1.5 +1 228451826 OBSCN C T 51 0.30631 0.352 . . . 0.2922 nonsynonymous_SNV exonic T 0.2810 0.2892 0.3003 3.5 +1 228451941 OBSCN C T 3 0.00439297 . . . . 0.0066 synonymous_SNV exonic . 0.0044 0.0061 0.0053 4 +1 228452016 OBSCN G C 1 0.00399361 -1.319 . . . 0.0190 nonsynonymous_SNV exonic T 0.0195 0.0186 0.0189 3.5 +1 228452032 OBSCN G A 2 0.0571086 3.095 . . . 0.0043 nonsynonymous_SNV exonic T 0.0044 0.0042 0.0031 3.5 +1 228456294 OBSCN C G 1 0.000399361 2.128 . . . 1.576e-05 nonsynonymous_SNV exonic T . 0 . 8.5 +1 228456295 OBSCN C G 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 9.144e-06 . 6.5 +1 228456296 OBSCN A G 1 0.000399361 3.369 . . . 0 nonsynonymous_SNV exonic D . 0 0 8.5 +1 228461097 OBSCN C G 3 0.00219649 1.035 . . . 0.0079 nonsynonymous_SNV exonic T . 0.0074 0.0097 6 +1 228461129 OBSCN A G 125 0.69349 -0.541 . . . 0.6973 nonsynonymous_SNV exonic T 0.6953 0.6933 0.7098 3.5 +1 228461187 OBSCN T C 4 0.00958466 . . . . 0.0226 synonymous_SNV exonic . 0.0250 0.0219 0.0200 1.5 +1 228461408 OBSCN A AGGG 214 0.999201 . . . . . . intronic . . . . 1.5 +1 228461504 OBSCN G A 1 0.00139776 0.409 . . . 0.0012 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0008 6 +1 228461757 OBSCN G A 33 0.206669 . . . . 0.1897 . intronic . 0.1774 0.1830 0.1770 1.5 +1 228462520 OBSCN C T 1 0.00179712 . . . . 0.0006 synonymous_SNV exonic . 0.0002 0.0005 0.0007 4 +1 228462570 OBSCN C T 1 0.00159744 . . . . 0.0103 . intronic . 0.0101 0.0090 0.0073 1.5 +1 228463425 OBSCN A G 1 0.00279553 . . . . . . intronic . . . . 4 +1 228463433 OBSCN C T 47 0.258786 . . . . 0.3414 . intronic . 0.2507 0.2822 0.2976 1.5 +1 228463763 OBSCN G A 1 0.000399361 . . . . 0.0002 . intronic . . 6.022e-05 . 6.5 +1 228463774 OBSCN G T 3 0.00279553 . . . . 0.0098 . intronic . 0.0048 0.0078 0.0068 4 +1 228464100 OBSCN G A 33 0.207069 . . . . . . intronic . . . 0.1768 1.5 +1 228464141 OBSCN T G 1 0.000199681 . . . . 1.627e-05 . intronic . . 9.674e-06 . 6.5 +1 228464248 OBSCN T G 125 0.695487 -0.460 . . . 0.6998 nonsynonymous_SNV exonic T 0.6965 0.6944 0.7121 3.5 +1 228464255 OBSCN T C 3 0.00259585 4.777 . . . 0.0115 nonsynonymous_SNV exonic T 0.0109 0.0105 0.0102 3.5 +1 228464276 OBSCN T C 125 0.663538 -0.742 . . . 0.6993 nonsynonymous_SNV exonic T 0.6960 0.6931 0.7115 3.5 +1 228464303 OBSCN G T 1 0.00459265 1.771 . . . 0.0290 nonsynonymous_SNV exonic T 0.0278 0.0253 0.0274 3.5 +1 228464385 OBSCN G A 1 0.000199681 3.941 . . . 3.35e-05 nonsynonymous_SNV exonic T . 1.132e-05 . 8.5 +1 228464440 OBSCN C T 1 0.000199681 . . . . 0.0012 . intronic . 0.0005 0.0006 0.0011 4 +1 228464759 OBSCN C T 1 0.000199681 . . . . . . intronic . . 0 . 6.5 +1 228464842 OBSCN C G 124 0.69369 . . . . 0.7158 . intronic . 0.6953 0.6887 0.7050 1.5 +1 228464899 OBSCN C T 1 0.000199681 . . . . 0.0002 synonymous_SNV exonic . . 7.025e-05 . 6.5 +1 228464937 OBSCN G A 1 0.000199681 0.694 . . . 5.543e-05 nonsynonymous_SNV exonic T 0.0001 3.632e-05 . 8.5 +1 228465346 OBSCN A G 74 0.330072 3.591 . . . 0.5114 nonsynonymous_SNV exonic . . 0.3862 0.3808 3.5 +1 228465370 OBSCN T G 128 0.669529 . . . . 0.7351 . intronic\x3bintronic . . 0.6986 0.7141 1.5 +1 228465403 OBSCN G T 11 0.102835 . . . . 0.0683 . intronic\x3bintronic . . 0.0596 0.0611 1.5 +1 228465426 OBSCN C T 1 0.000399361 . . . . 0.0027 . intronic\x3bintronic . 0.0030 0.0028 0.0017 4 +1 228466819 OBSCN C T 11 0.0167732 . . . . . . intronic . . . 0.0386 1.5 +1 228466843 OBSCN C T 3 0.00499201 . . . . 0.0107 . intronic . 0.0111 0.0106 0.0107 1.5 +1 228466862 OBSCN C T 4 0.0421326 . . . . 0.0370 . intronic . 0.0331 0.0355 0.0363 1.5 +1 228467072 OBSCN C G 1 0.00299521 . . . . 0.0132 synonymous_SNV exonic . 0.0101 0.0124 0.0206 1.5 +1 228467095 OBSCN T C 1 0.00219649 2.990 . . . 0.0071 nonsynonymous_SNV exonic T 0.0089 0.0078 0.0080 6 +1 228467158 OBSCN G A 1 0.000998403 . . . . 0.0024 . intronic . 0.0018 0.0027 0.0032 4 +1 228467642 OBSCN C T 1 0.000599042 3.815 . . . 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0003 0 6 +1 228467711 OBSCN G A 6 0.0836661 3.250 . . . 0.0370 nonsynonymous_SNV exonic T 0.0184 0.0218 0.0221 3.5 +1 228467969 OBSCN G C 1 0.000998403 4.087 . . . 0.0005 nonsynonymous_SNV exonic T 0.0002 0.0006 0.0010 6 +1 228468179 OBSCN A C 1 0.000199681 . . . . 0.0010 . intronic\x3bintronic . 0.0005 0.0006 0.0003 4 +1 228468244 OBSCN G A 6 0.113618 . . . . 0.0230 synonymous_SNV exonic . 0.0183 0.0219 0.0225 1.5 +1 228468458 OBSCN G A 54 0.31889 1.572 . . . 0.3115 nonsynonymous_SNV exonic T 0.2785 0.3061 0.3193 3.5 +1 228468566 OBSCN A G 74 0.239816 . . . . . . intronic . . . 0.3708 1.5 +1 228469720 OBSCN G A 1 0.000199681 2.733 . . . 3.024e-05 nonsynonymous_SNV exonic T . 2.702e-05 . 8.5 +1 228469801 OBSCN G C 8 0.0111821 5.043 . . . 0.0216 nonsynonymous_SNV exonic T 0.0219 0.0211 0.0214 3.5 +1 228469870 OBSCN C T 6 0.0872604 2.777 . . . 0.0222 nonsynonymous_SNV exonic T 0.0178 0.0210 0.0217 3.5 +1 228469903 OBSCN A T 3 0.0766773 11.513 . . . 0.0060 stopgain exonic . 0.0025 0.0048 0.0051 6.5 +1 228469904 OBSCN G T 3 0.0766773 3.320 . . . 0.0060 nonsynonymous_SNV exonic T 0.0024 0.0048 0.0051 3.5 +1 228470995 OBSCN G T 53 0.318091 . . . . 0.3709 . intronic . 0.2859 0.2972 0.3185 1.5 +1 228471028 OBSCN C T 1 0.000199681 . . . . 0.0001 . intronic . . 1.828e-05 . 6.5 +1 228471046 OBSCN C T 70 0.147364 . . . . . . intronic . . . 0.3329 4.5 +1 228471379 OBSCN G C 75 0.230232 . . . . 0.3727 synonymous_SNV exonic . 0.3681 0.3719 0.3705 4.5 +1 228473733 OBSCN G A 1 0.000199681 . . . . 0 . intronic . . 0.0001 0.0001 6.5 +1 228474422 OBSCN G C 1 0.00219649 . . . . . . intronic . . . 0.0080 4 +1 228475715 OBSCN A G 4 0.00559105 . . . . 0.0173 . intronic\x3bintronic . 0.0157 0.0176 0.0173 1.5 +1 228475848 OBSCN G A 53 0.302716 4.107 . . . 0.3041 nonsynonymous_SNV exonic T 0.2973 0.3017 0.3168 3.5 +1 228476366 OBSCN G T 6 0.0958466 2.734 . . . 0.0224 nonsynonymous_SNV exonic T 0.0149 0.0216 0.0222 3.5 +1 228476367 OBSCN A T 6 0.0958466 2.116 . . . 0.0224 nonsynonymous_SNV exonic T 0.0142 0.0218 0.0224 3.5 +1 228476390 OBSCN G A 1 0.000199681 . . . . 2.997e-05 synonymous_SNV exonic . . 1.79e-05 6.668e-05 6.5 +1 228476414 OBSCN G A 6 0.0938498 . . . . 0.0225 synonymous_SNV exonic . 0.0186 0.0218 0.0224 1.5 +1 228476526 OBSCN G A 1 0.000199681 5.578 . . . . nonsynonymous_SNV exonic D . . . 10.5 +1 228480282 OBSCN A G 134 0.698882 . . . . 0.7029 synonymous_SNV exonic . 0.7022 0.6999 0.7148 1.5 +1 228481116 OBSCN G A 1 0.000199681 0.259 . . . 9.004e-05 nonsynonymous_SNV exonic T 0.0001 0.0001 . 8.5 +1 228481382 OBSCN C T 3 0.00459265 . . . . . . intronic . . . 0.0187 1.5 +1 228481917 OBSCN G A 4 0.00878594 . . . . 0.0193 synonymous_SNV exonic . 0.0229 0.0188 0.0157 1.5 +1 228482010 OBSCN C T 94 0.381989 . . . . 0.4961 synonymous_SNV exonic . 0.4953 0.497 0.5212 1.5 +1 228482028 OBSCN G C 34 0.21246 . . . . 0.1837 synonymous_SNV exonic . 0.1766 0.1808 0.1697 1.5 +1 228482059 OBSCN G A 5 0.00798722 5.747 . . . 0.0327 nonsynonymous_SNV exonic T 0.0421 0.0352 0.0357 3.5 +1 228482125 OBSCN C T 1 0.000199681 . . . . 0.0001 . intronic . . 6.286e-05 6.676e-05 6.5 +1 228482160 OBSCN C T 1 0.0225639 . . . . 0.0022 . intronic . 0.0023 0.0020 0.0029 1.5 +1 228482569 OBSCN G A 9 0.0127796 . . . . 0.0324 synonymous_SNV exonic . 0.0324 0.0338 0.0346 1.5 +1 228482663 OBSCN C A 1 0.000199681 -0.373 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.951e-06 . 8.5 +1 228486404 OBSCN C T 31 0.165935 0.548 . . . 0.1816 nonsynonymous_SNV exonic T 0.1788 0.1769 0.1673 3.5 +1 228487165 OBSCN C T 1 0.000599042 . . . . 6.005e-05 synonymous_SNV exonic . . 4.535e-05 6.673e-05 4 +1 228491633 OBSCN G A 5 0.052516 0.427 . . . 0.0391 nonsynonymous_SNV exonic T 0.0397 0.0372 0.0372 3.5 +1 228492044 OBSCN G A 97 0.369209 . . . . 0.4986 synonymous_SNV exonic . 0.4905 0.4974 0.5219 1.5 +1 228492061 OBSCN C T 1 0.000199681 0.464 . . . 6.039e-05 nonsynonymous_SNV exonic T . 6.286e-05 6.672e-05 8.5 +1 228492125 OBSCN C T 1 0.000798722 . . . . 0.0040 synonymous_SNV exonic . 0.0058 0.0043 0.0061 4 +1 228492220 OBSCN C T 4 0.00539137 2.422 . . . 0.0176 nonsynonymous_SNV exonic T 0.0158 0.0179 0.0175 3.5 +1 228494070 OBSCN C G 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 228494209 OBSCN T C 1 0.000599042 . . . . 0.0016 synonymous_SNV exonic . 0.0010 0.0016 0.0011 4 +1 228494346 OBSCN T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 228494357 OBSCN C T 31 0.166733 . . . . 0.1894 . intronic . 0.1716 0.1765 0.1683 1.5 +1 228494382 OBSCN T C,G 31 0.383387 . . . . 0.5074 . intronic . 0.6220 0.5018 0.5224 1.5 +1 228494394 OBSCN C T 1 0.00239617 . . . . . . intronic . . . 0.0058 4 +1 228494552 OBSCN C G 1 0.000199681 . . . . 0 . intronic . . 2.054e-05 . 6.5 +1 228494696 OBSCN G A 37 0.308506 . . . . 0.2636 synonymous_SNV exonic . 0.1945 0.2031 0.1925 1.5 +1 228494790 OBSCN G A 97 0.26857 2.944 . . . 0.4976 nonsynonymous_SNV exonic T 0.4939 0.4972 0.5210 3.5 +1 228496014 OBSCN G A 31 0.213059 . . . . 0.2152 synonymous_SNV exonic . 0.1772 0.1819 0.1705 1.5 +1 228497053 OBSCN A G 134 0.698682 . . . . . . intronic . . . 0.7154 1.5 +1 228497066 OBSCN A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 228497286 OBSCN C A 6 0.0932508 . . . . 0.0227 . intronic . 0.0188 0.0218 0.0224 1.5 +1 228503677 OBSCN A G 134 0.700879 -2.279 . . . 0.7111 nonsynonymous_SNV exonic T 0.7056 0.6950 0.7144 3.5 +1 228503711 OBSCN G A 2 0.0129792 . . . . 0.0523 synonymous_SNV exonic . 0.0327 0.0380 0.0432 1.5 +1 228503798 OBSCN G A 1 0.000399361 . . . . 0.0002 synonymous_SNV exonic . . 3.869e-05 . 6.5 +1 228504373 OBSCN G A 1 0.000199681 . . . . 4.151e-05 . intronic . . 2.265e-05 6.685e-05 6.5 +1 228504472 OBSCN T C 134 0.699281 -1.304 . . . 0.7040 nonsynonymous_SNV exonic T 0.7008 0.6982 0.7147 3.5 +1 228504507 OBSCN G T 4 0.00499201 . . . . 0.0256 synonymous_SNV exonic . 0.0203 0.0220 0.0176 1.5 +1 228504591 OBSCN C A 31 0.145367 1.476 . . . 0.2674 nonsynonymous_SNV exonic T 0.1672 0.1833 0.1681 3.5 +1 228504669 OBSCN G A 31 0.145567 . . . . 0.2135 synonymous_SNV exonic . 0.1453 0.1818 0.1725 1.5 +1 228504670 OBSCN C T 97 0.330272 3.693 . . . 0.5071 nonsynonymous_SNV exonic T 0.4398 0.4992 0.5236 3.5 +1 228504701 OBSCN G GCTCC 134 0.699081 . . . . 0.6977 . intronic . 0.6286 0.6922 0.7129 1.5 +1 228505204 OBSCN G A 37 0.315296 3.357 . . . 0.2095 nonsynonymous_SNV exonic T 0.1944 0.2031 0.1924 3.5 +1 228505518 OBSCN C T 1 0.00159744 . . . . . . intronic . . . 0.0057 4 +1 228505668 OBSCN C G 134 0.699281 0.755 . . . 0.7027 nonsynonymous_SNV exonic T 0.7016 0.6997 0.7146 3.5 +1 228505699 OBSCN T C 134 0.705871 . . . . 0.7045 synonymous_SNV exonic . 0.7008 0.7007 0.7147 1.5 +1 228505725 OBSCN A C 1 0.000399361 3.123 . . . 0.0018 nonsynonymous_SNV exonic T 0.0009 0.0007 0.0005 6 +1 228505727 OBSCN C T 6 0.086262 2.382 . . . 0.0226 nonsynonymous_SNV exonic T 0.0186 0.0218 0.0222 3.5 +1 228505739 OBSCN G A 31 0.173123 0.313 . . . 0.1804 nonsynonymous_SNV exonic T 0.1735 0.1780 0.1681 3.5 +1 228505925 OBSCN G A 4 0.00519169 . . . . . . intronic . 0.0148 . 0.0172 1.5 +1 228506661 OBSCN G A 6 0.0107827 . . . . 0.0592 synonymous_SNV exonic . 0.0230 0.0234 0.0184 1.5 +1 228506768 OBSCN C T 1 0.000199681 1.693 . . . 0.0004 nonsynonymous_SNV exonic T 0.0005 0.0004 0.0007 6 +1 228506965 OBSCN C T 1 0.000199681 . . . . . . intronic . . 3.485e-05 . 6.5 +1 228509367 OBSCN G A 1 0.000199681 6.644 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0001 8.5 +1 228509427 OBSCN A G 134 0.684704 -0.311 . . . 0.7021 nonsynonymous_SNV exonic T 0.6968 0.6995 0.7147 3.5 +1 228511197 OBSCN G A 1 0.000199681 5.134 . . . . nonsynonymous_SNV exonic T . . . 8.5 +1 228511240 OBSCN C T 1 0.000199681 . . . . 0.0002 synonymous_SNV exonic . 0.0002 0.0002 6.668e-05 6.5 +1 228520538 OBSCN C T 1 0.000199681 . . . . 0.0016 . intronic . 0.0013 0.0012 0.0009 4 +1 228520880 OBSCN C T 86 0.341853 . . . . 0.4551 . intronic . 0.4158 0.4122 0.4488 1.5 +1 228520973 OBSCN C G 86 0.335064 1.995 . . . 0.4651 nonsynonymous_SNV exonic T 0.4179 0.4187 0.4485 3.5 +1 228521002 OBSCN C A 1 0.000399361 . . . . 0.0036 synonymous_SNV exonic . 0.0010 0.0013 0.0011 4 +1 228522357 OBSCN G A 11 0.00938498 . . . . . . intronic . . . 0.0220 1.5 +1 228522483 OBSCN C T 5 0.034345 . . . . 0.0484 . intronic . 0.0328 0.0369 0.0369 1.5 +1 228522509 OBSCN C A 1 0.000199681 . . . . 0.0001 . intronic . . 1.609e-05 . 6.5 +1 228523005 OBSCN T TG 100 0.469449 . . . . 0.4474 . intronic . 0.4253 0.6301 0.6579 1.5 +1 228523042 OBSCN T G,TG 100 0.344449 . . . . . . intronic . 0.4471 0.2518 0.5158 1.5 +1 228523412 OBSCN G A 17 0.126797 . . . . . . intronic . . . 0.0942 1.5 +1 228523442 OBSCN T C 103 0.478435 . . . . 0.5182 . intronic . 0.5171 0.5181 0.5408 1.5 +1 228523447 OBSCN T C 175 0.813498 . . . . 0.8273 . intronic . 0.8251 0.8253 0.8306 1.5 +1 228523448 OBSCN G A 86 0.352636 . . . . 0.4257 . intronic . 0.3968 0.4286 0.4463 1.5 +1 228523596 OBSCN G A 3 0.000998403 . . . . 0.0002 . intronic . 0.0001 0.0003 6.67e-05 4 +1 228523618 OBSCN G A 103 0.474241 . . . . . . intronic . 0.5195 . 0.5431 1.5 +1 228523866 OBSCN C G 2 0.00119808 . . . . 0.0047 . intronic . 0.0031 0.0039 0.0021 4 +1 228524642 OBSCN T C 5 0.0353435 . . . . . . intronic . . . 0.0373 1.5 +1 228524671 OBSCN C T 1 0.000199681 . . . . 0.0012 . intronic . 0.0008 0.0011 0.0007 4 +1 228524919 OBSCN G A 86 0.240016 . . . . 0.4286 . intronic . 0.4207 0.4276 0.4476 1.5 +1 228524961 OBSCN C A 86 0.239816 . . . . 0.4306 synonymous_SNV exonic . 0.4226 0.4274 0.4482 1.5 +1 228525008 OBSCN G A 25 0.0766773 4.879 . . . 0.1499 nonsynonymous_SNV exonic T 0.1356 0.1403 0.1305 6.5 +1 228525627 OBSCN C A 86 0.240216 . . . . 0.4565 . intronic . 0.4221 0.4218 0.4463 1.5 +1 228525689 OBSCN G A 1 0.000199681 . . . . 6.603e-05 synonymous_SNV exonic . . 4.51e-05 6.683e-05 6.5 +1 228525799 OBSCN C A 1 0.000199681 16.481 . . . 1.619e-05 stopgain exonic . . 9.067e-06 . 11.5 +1 228525823 OBSCN C T 1 0.000998403 6.985 . . . 0.0004 nonsynonymous_SNV exonic T 0.0004 0.0007 0.0005 6 +1 228525898 OBSCN C G 103 0.538339 . . . . . . intronic\x3bintronic . . . 0.5470 1.5 +1 228526011 OBSCN C T 25 0.117612 . . . . 0.1745 synonymous_SNV exonic . 0.1578 0.1490 0.1545 1.5 +1 228526486 OBSCN G A 86 0.228435 . . . . . . intronic . . . 0.4473 1.5 +1 228526578 OBSCN T A 3 0.00439297 4.894 . . . 0.0137 nonsynonymous_SNV exonic T 0.0095 0.0104 0.0106 3.5 +1 228526653 OBSCN C A 1 0.00119808 1.750 . . . 0.0015 nonsynonymous_SNV exonic T 0.0015 0.0019 0.0007 6 +1 228526665 OBSCN T C 103 0.494409 . . . . 0.5318 synonymous_SNV exonic . 0.5569 0.5179 0.5447 1.5 +1 228527685 OBSCN C T 3 0.00259585 . . . . 0.0057 synonymous_SNV exonic . 0.0065 0.0062 0.0069 4 +1 228527749 OBSCN C T 1 0.00858626 7.261 . . . 0.0013 nonsynonymous_SNV exonic T 0.0018 0.0016 0.0007 6 +1 228527758 OBSCN G C 1 0.000399361 6.172 . . . 0.0006 nonsynonymous_SNV exonic T 0.0004 0.0007 0.0004 6 +1 228527844 OBSCN T G 5 0.0297524 . . . . 0.0425 . intronic . 0.0352 0.0379 0.0358 1.5 +1 228528412 OBSCN G A 86 0.351837 . . . . 0.4383 . intronic . 0.4247 0.4300 0.4487 1.5 +1 228528563 OBSCN C G 103 0.538738 0.194 . . . 0.5577 nonsynonymous_SNV exonic T 0.5203 0.5185 0.5473 3.5 +1 228528752 OBSCN A G 1 0.000199681 . . . . 7.543e-05 . intronic . . 3.347e-05 0 6.5 +1 228529129 OBSCN C A 17 0.138179 . . . . 0.1101 . intronic . 0.0945 0.0990 0.1036 1.5 +1 228538470 OBSCN C G 17 0.147764 . . . . . . intronic . . . 0.0971 1.5 +1 228538568 OBSCN C G 1 0.00119808 5.894 . . . 0.0038 nonsynonymous_SNV exonic T 0.0041 0.0027 0.0022 6 +1 228538635 OBSCN C T 1 0.000798722 6.415 . . . 0.0009 nonsynonymous_SNV exonic D 0.0006 0.0008 0.0007 8 +1 228538968 OBSCN C T 24 0.139577 . . . . . . intronic . . . 0.1337 1.5 +1 228538982 OBSCN G T 2 0.00379393 . . . . 0.0064 . intronic . 0.0046 0.0069 0.0052 4 +1 228539034 OBSCN C T 1 0.000399361 . . . . 0.0032 synonymous_SNV exonic . 0.0012 0.0013 0.0012 4 +1 228543800 OBSCN C T 17 0.172125 . . . . . . intronic . 0.0899 . 0.0976 1.5 +1 228547256 OBSCN G A 17 0.147564 . . . . 0.1310 . intronic . 0.0836 0.0892 0.0962 1.5 +1 228547769 OBSCN C T 3 0.00479233 . . . . 0.0176 synonymous_SNV exonic . 0.0106 0.0103 0.0110 1.5 +1 228547901 OBSCN C T 82 0.298722 . . . . 0.2981 synonymous_SNV exonic . 0.3011 0.2996 0.2846 1.5 +1 228548029 OBSCN C A 2 0.000399361 2.012 . . . 1.538e-05 nonsynonymous_SNV exonic T . 9.007e-06 . 8.5 +1 228548094 OBSCN C G 1 0.000199681 2.418 . . . 1.561e-05 nonsynonymous_SNV exonic D . 9.059e-06 . 8.5 +1 228548129 OBSCN T C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +1 228548197 OBSCN G A 17 0.147764 -0.089 . . . 0.0996 nonsynonymous_SNV exonic T 0.0857 0.0907 0.0958 3.5 +1 228548257 OBSCN G C 1 0.000199681 -0.317 . . . 3.467e-05 nonsynonymous_SNV exonic T . 4.614e-05 . 8.5 +1 228548360 OBSCN G A 3 0.00199681 . . . . 0.0047 synonymous_SNV exonic . 0.0055 0.0047 0.0054 4 +1 228550344 OBSCN G A 1 0.000199681 . . . . 0.0008 synonymous_SNV exonic . 0.0007 0.0007 0.0005 4 +1 228550426 OBSCN C T 17 0.146965 -0.124 . . . 0.1364 nonsynonymous_SNV exonic T 0.0834 0.0910 0.0959 3.5 +1 228550429 OBSCN C T 5 0.0443291 0.627 . . . 0.0622 nonsynonymous_SNV exonic T 0.0362 0.0374 0.0360 3.5 +1 228552618 OBSCN C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 228554767 OBSCN G A 1 0.000199681 1.354 . . . 2.431e-05 nonsynonymous_SNV exonic T . 1.862e-05 . 8.5 +1 228556014 OBSCN C T 1 0.00159744 . . . . 0.0023 . intronic . 0.0011 0.0010 0.0011 4 +1 228556403 OBSCN C T 17 0.125599 . . . . 0.0941 . intronic . 0.0859 0.0902 0.0963 1.5 +1 228556788 OBSCN C T 83 0.320487 . . . . 0.3910 . intronic . 0.3585 0.3722 0.3616 1.5 +1 228556986 OBSCN G C 1 0.000599042 . . . . . . intronic . . . 0.0007 4 +1 228557755 OBSCN G A 1 0.00239617 5.942 . . . 0.0025 nonsynonymous_SNV exonic T 0.0012 0.0023 0.0026 6 +1 228557980 OBSCN T C 1 0.00199681 . . . . 0.0009 . intronic . 0.0010 0.0010 0.0012 4 +1 228558307 OBSCN T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 228558389 OBSCN C T 1 0.000199681 4.526 . . . . nonsynonymous_SNV exonic T . . . 8.5 +1 228558817 OBSCN C T 1 0.000399361 6.323 . . . 1.541e-05 nonsynonymous_SNV exonic T . 1.803e-05 0 8.5 +1 228558892 OBSCN C T 12 0.033746 6.518 . . . 0.0775 nonsynonymous_SNV exonic T 0.0650 0.0658 0.0713 3.5 +1 228558952 OBSCN T G 2 0.00219649 2.292 . . . 0.0158 nonsynonymous_SNV exonic T 0.0103 0.0092 0.0119 3.5 +1 228558992 OBSCN CCA C 2 0.00199681 . . . . 0.0099 frameshift_deletion exonic . 0.0038 0.0051 0.0090 9 +1 228559008 OBSCN C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 0 0 6.5 +1 228559430 OBSCN G A 7 0.0217652 -0.220 . . . 0.0364 nonsynonymous_SNV exonic T 0.0309 0.0366 0.0372 3.5 +1 228559450 OBSCN G A 2 0.00199681 -0.731 . . . 0.0111 nonsynonymous_SNV exonic T 0.0077 0.0118 0.0099 3.5 +1 228559654 OBSCN G A 5 0.00499201 1.765 . . . 0.0156 nonsynonymous_SNV exonic T 0.0152 0.0137 0.0112 3.5 +1 228559967 OBSCN C T 4 0.00499201 2.939 . . . 0.0326 nonsynonymous_SNV exonic T 0.0136 0.0139 0.0110 3.5 +1 228559994 OBSCN C T 99 0.589058 2.792 . . . 0.5975 nonsynonymous_SNV exonic T 0.5033 0.5120 0.4981 6.5 +1 228560034 OBSCN C T 1 0.013778 . . . . 0.0016 synonymous_SNV exonic . 0.0005 0.0004 0.0009 1.5 +1 228560139 OBSCN A G 187 0.974241 . . . . 0.9239 synonymous_SNV exonic . 0.9259 0.9205 0.9202 1.5 +1 228560251 OBSCN G C 1 0.000199681 2.276 . . . 0 nonsynonymous_SNV exonic T . 0 . 8.5 +1 228560700 OBSCN T C 124 0.757987 . . . . 0.5550 synonymous_SNV exonic . 0.5485 0.5490 0.5350 1.5 +1 228561779 OBSCN C T 1 0.00179712 . . . . . . intronic . . . 0.0084 4 +1 228562350 OBSCN T C 1 0.00519169 . . . . 0.0261 synonymous_SNV exonic . 0.0280 0.0253 0.0283 1.5 +1 228562523 OBSCN C G 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 228563558 OBSCN C A 1 0.000599042 . . . . 0.0012 . intronic . 0.0011 0.0013 0.0013 4 +1 228563748 OBSCN G A 1 0.000599042 6.122 . . . 0.0001 nonsynonymous_SNV exonic T . 0.0002 0.0001 6 +1 228564757 OBSCN C T 1 0.00878594 6.283 . . . 0.0011 nonsynonymous_SNV exonic T 0.0004 0.0003 0.0003 6 +1 228564796 OBSCN G A 1 0.000199681 4.260 . . . 8.461e-05 nonsynonymous_SNV exonic T . 8.583e-05 0 8.5 +1 228564884 OBSCN G A 17 0.140775 1.749 . . . 0.1419 nonsynonymous_SNV exonic T 0.0847 0.0935 0.0981 3.5 +1 228565208 OBSCN C T 2 0.0117812 . . . . 0.0437 synonymous_SNV exonic . 0.0354 0.0385 0.0430 1.5 +1 228565209 OBSCN G A 1 0.00179712 7.258 . . . 0.0019 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0004 6 +1 228565255 OBSCN T C 1 0.000199681 5.069 . . . . nonsynonymous_SNV exonic D . . . 10.5 +1 228565311 OBSCN G A 1 0.000199681 6.702 . . . 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0003 6.679e-05 8.5 +1 228565329 OBSCN G A 4 0.00499201 3.334 . . . 0.0222 nonsynonymous_SNV exonic T 0.0231 0.0225 0.0180 3.5 +1 228565445 OBSCN C A 17 0.124201 . . . . 0.0991 . intronic . 0.0852 0.0918 0.0962 1.5 +1 228565556 OBSCN T G 3 0.00479233 . . . . . . intronic\x3bintronic . . . 0.0106 1.5 +1 228565826 OBSCN T C 2 0.00279553 . . . . . . intronic\x3bintronic . . . 0.0163 1.5 +1 228566528 OBSCN G A 1 0.000199681 . . . . 1.884e-05 . UTR3 . . 1.055e-05 . 6.5 +1 229567663 ACTA1 C GG 43 . . MedGen:CN169374 not_specified Benign . . intronic . . . . 11 +1 229567683 ACTA1 TC T 43 0.209465 . MedGen:CN169374 not_specified Benign 0.1544 . intronic\x3bintronic . 0.1609 0.1219 0.1627 1.5 +1 229567826 ACTA1 G A 1 0.000199681 . . . . 7.734e-05 synonymous_SNV exonic . . 6.295e-05 6.674e-05 6.5 +1 229568231 ACTA1 T G 213 0.999002 . . . . . . intronic . . . 0.9995 1.5 +1 229568300 ACTA1 C A 1 0.000199681 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|Congenital_fiber-type_disproportion Uncertain_significance 4.903e-05 . intronic . 0.0002 6.478e-05 0.0001 6.5 +1 229568632 ACTA1 A G 44 0.273962 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign 0.1808 . intronic . 0.1807 0.1743 0.1643 7.5 +1 229568637 ACTA1 C G 44 0.211861 . MedGen:C0206157,Orphanet:ORPHA607,SNOMED_CT:75072002|MedGen:C0340429,Orphanet:ORPHA217635,SNOMED_CT:233878008|MedGen:CN169374|MedGen:CN235628 Nemaline_myopathy|Familial_restrictive_cardiomyopathy|not_specified|Congenital_fiber-type_disproportion Benign/Likely_benign 0.1769 . intronic . 0.1751 0.1715 0.1622 7.5 +1 236849952 ACTN2 C T 11 0.0115815 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0379 . UTR5 . 0.0399 0.0351 0.0323 2.75 +1 236849999 ACTN2 A G 1 0.000599042 1.768 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0014 11 +1 236881185 ACTN2 C T 1 0.000199681 . . . . 0 synonymous_SNV exonic . 0.0001 0 . 6.5 +1 236882303 ACTN2 T C 214 0.992612 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 0.9998 1.0000 1 1.5 +1 236883421 ACTN2 C T 214 0.920727 . MedGen:CN169374 not_specified Benign 0.9953 synonymous_SNV exonic . 0.9953 0.9951 0.9949 1.5 +1 236883564 ACTN2 G A 214 0.922324 . . . . . . intronic . . . 0.9949 1.5 +1 236883585 ACTN2 T G 4 0.00179712 . . . . . . intronic . . . 0.0069 5 +1 236894647 ACTN2 G A 69 0.491613 . . . . 0.3134 . intronic . 0.3102 0.3086 0.2938 1.5 +1 236894667 ACTN2 G A 1 0.000199681 . . . . . . intronic . 0.0006 . 0.0003 4 +1 236899042 ACTN2 G A 25 0.195887 . MedGen:CN169374 not_specified Benign 0.1386 . intronic . 0.1356 0.1341 0.1276 1.5 +1 236900334 ACTN2 C T 4 0.00119808 . . . . . . intronic . . . 0.0013 5 +1 236900554 ACTN2 C T 4 0.00539137 . . . . 0.0236 . intronic . 0.0266 0.0230 0.0231 1.5 +1 236900598 ACTN2 C T 158 0.531949 . . . . . . intronic . . . 0.5338 1.5 +1 236902532 ACTN2 ATT A 8 0.0509185 . . . . . . intronic . . . 0.0580 1.5 +1 236902560 ACTN2 C G,T 8 0.372404 . . . . 0.5993 . intronic . 0.6395 0.6062 0.6275 1.5 +1 236902594 ACTN2 C G 172 0.767572 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7749 . intronic . 0.7763 0.7764 0.7852 2.75 +1 236902865 ACTN2 A C 134 0.422724 . . . . 0.6659 . intronic . 0.6570 0.6665 0.6783 1.5 +1 236907966 ACTN2 G A 3 0.0347444 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0113 synonymous_SNV exonic . 0.0144 0.0116 0.0109 4 +1 236908011 ACTN2 C T 1 0.000399361 . MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736 Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0039 synonymous_SNV exonic . 0.0042 0.0031 0.0024 6.5 +1 236908053 ACTN2 C T 1 0.000998403 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0013 synonymous_SNV exonic . 0.0019 0.0017 0.0016 9 +1 236908144 ACTN2 T C 3 0.0189696 . . . . . . intronic . . . 0.0103 1.5 +1 236911045 ACTN2 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 6.146e-05 synonymous_SNV exonic . . 8.956e-05 6.662e-05 6.5 +1 236911122 ACTN2 C T 7 0.0782748 . . . . 0.0403 . intronic . 0.0324 0.0361 0.0384 1.5 +1 236911137 ACTN2 A G 19 0.10623 . . . . . . intronic . . . 0.0646 1.5 +1 236912597 ACTN2 A G 25 0.189896 . . . . 0.1042 . intronic . 0.1073 0.1005 0.0948 1.5 +1 236912622 ACTN2 T A 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 236914738 ACTN2 ATTGT A 6 0.0145767 . . . . 0.0317 . intronic . 0.0320 0.0304 0.0299 1.5 +1 236914754 ACTN2 T C 4 0.00119808 . MedGen:C2677338,OMIM:612158|MedGen:CN169374 Dilated_cardiomyopathy_1AA|not_specified Benign 0.0018 . intronic . 0.0014 0.0019 0.0013 5.625 +1 236914923 ACTN2 A G 1 0.0195687 0.771 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Hypertrophic_cardiomyopathy|Primary_familial_hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Benign/Likely_benign 0.0005 nonsynonymous_SNV exonic T 0.0014 0.0005 0.0005 6 +1 236920782 ACTN2 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 236920960 ACTN2 A G 1 0.0215655 . . . . 0.0005 . intronic . 0.0015 0.0006 0.0005 1.5 +1 236923197 ACTN2 C T 25 0.0664936 . . . . . . intronic . . . 0.0627 1.5 +1 236924506 ACTN2 A G 188 0.798123 . . . . 0.8880 . intronic . 0.8909 0.8915 0.8953 1.5 +1 236925844 ACTN2 G A 32 0.196086 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C2677338,OMIM:612158|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310 Hypertrophic_cardiomyopathy|Dilated_cardiomyopathy_1AA|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1447 synonymous_SNV exonic . 0.1392 0.1441 0.1429 2.75 +1 237205759 RYR2 G T 1 0.000599042 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy,_ARVC Uncertain_significance . . UTR5 . . . 0.0005 4 +1 237205892 RYR2 G A 1 0.000998403 . . . . 0.0018 . intronic . 0.0016 0.0015 0.0022 4 +1 237519165 RYR2 G T 53 0.186901 . . . . . . intronic . . . 0.2209 1.5 +1 237527551 RYR2 A G 8 0.0103834 . . . . . . intronic . . . 0.0185 1.5 +1 237532763 RYR2 T G 3 0.0189696 . . . . . . intronic . . . 0.0404 1.5 +1 237532860 RYR2 A G 1 0.000199681 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_benign 8.154e-05 synonymous_SNV exonic . . 4.259e-05 . 6.5 +1 237532996 RYR2 G A 2 0.000399361 . . . . . . intronic . . . 0.0001 6.5 +1 237540615 RYR2 A C 55 0.362819 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2482 . intronic . 0.2293 0.2366 0.2498 1.5 +1 237551298 RYR2 C T 1 0.000399361 . . . . . . intronic . . . 0.0003 6.5 +1 237551376 RYR2 T A 120 0.55651 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5716 . intronic . 0.5597 0.5652 0.5458 1.5 +1 237586384 RYR2 T C 24 0.170128 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.1016 . intronic . 0.0985 0.0994 0.0891 1.5 +1 237586449 RYR2 A T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +1 237608663 RYR2 A G 2 0.000399361 . . . . 0.0002 . intronic . 0.0004 0.0002 6.668e-05 6.5 +1 237608842 RYR2 C T 3 0.00658946 . MedGen:CN169374 not_specified Benign 0.0077 . intronic . 0.0060 0.0084 0.0077 4 +1 237617757 RYR2 C T 125 0.535743 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5907 synonymous_SNV exonic . 0.6005 0.5953 0.5988 1.5 +1 237619875 RYR2 ATT ATTT,ATTTT,AT,A 125 0.0127796 . . . . 0.0165 . intronic . . 0.0150 0.0004 1.5 +1 237619971 RYR2 T C 2 0.000399361 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0008 synonymous_SNV exonic . 0.0010 0.0009 0.0007 4 +1 237620049 RYR2 T C 118 0.53115 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.5449 . intronic . 0.5441 0.5458 0.5521 1.5 +1 237620108 RYR2 G A 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237632512 RYR2 T C 1 0.00299521 . . . . 0.0081 . intronic . 0.0092 0.0089 0.0080 4 +1 237632514 RYR2 G T 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237655057 RYR2 C T 1 0.00139776 . . . . 0.0018 . intronic . 0.0022 0.0019 0.0015 4 +1 237655173 RYR2 A T 8 0.0215655 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0369 synonymous_SNV exonic . 0.0180 0.0244 0.0229 1.5 +1 237655267 RYR2 T C 6 0.00399361 . . . . 0.0143 . intronic . 0.0049 0.0182 0.0131 1.5 +1 237656185 RYR2 A G 80 0.396565 . . . . . . intronic . . . 0.0002 1.5 +1 237656289 RYR2 C T 2 0.00219649 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0117 synonymous_SNV exonic . 0.0083 0.0072 0.0052 1.5 +1 237664004 RYR2 C G 5 0.00459265 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0124 . intronic . 0.0124 0.0122 0.0180 1.5 +1 237670140 RYR2 A G 143 0.699481 . MedGen:CN169374 not_specified Benign 0.6691 . intronic . 0.6578 0.6648 0.6682 1.5 +1 237670190 RYR2 C T 1 0.00119808 . . . . . . intronic . . . 6.664e-05 4 +1 237675150 RYR2 A AG 55 0.343251 . . . . . . intronic . . . 0.1647 1.5 +1 237675152 RYR2 A C 1 0.00239617 . . . . . . intronic . . . 0.0079 4 +1 237675163 RYR2 G A 81 0.295327 . . . . . . intronic . . . 0.4248 1.5 +1 237693662 RYR2 C T 3 0.0323482 . . . . . . intronic . . . 0.0092 1.5 +1 237711797 RYR2 A G 201 0.830272 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9594 synonymous_SNV exonic . 0.9585 0.9589 0.9567 1.5 +1 237730059 RYR2 C T 1 0.00239617 2.658 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0114 nonsynonymous_SNV exonic T 0.0130 0.0124 0.0149 3.5 +1 237730124 RYR2 A G 205 0.905551 . MedGen:CN169374 not_specified Benign 0.9738 . intronic . 0.9754 0.9734 0.9705 1.5 +1 237732395 RYR2 G A 150 0.492812 . MedGen:CN169374 not_specified Benign 0.7159 . intronic . 0.7105 0.7128 0.7083 1.5 +1 237732617 RYR2 A G 1 0.000199681 4.237 MedGen:CN169374 not_specified Uncertain_significance 1.679e-05 nonsynonymous_SNV exonic T . 9.003e-06 . 8.5 +1 237732673 RYR2 C T 1 0.0197684 . . . . . . intronic . . . 0.0509 1.5 +1 237732684 RYR2 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237753074 RYR2 AT ATT,A 1 0.285144 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:CN169374 Cardiomyopathy|not_specified Benign/Likely_benign 0.4969 . intronic . 0.4430 0.4791 0.4511 1.5 +1 237753364 RYR2 A C 101 0.336861 . . . . . . intronic . . . 0.4898 1.5 +1 237754020 RYR2 C T 1 0.000599042 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0012 synonymous_SNV exonic . 0.0008 0.0011 0.0008 4 +1 237754340 RYR2 A G 100 0.33746 . MedGen:CN169374 not_specified Benign 0.4827 . intronic . 0.4731 0.4808 0.4867 1.5 +1 237754963 RYR2 A G 6 0.0071885 . . . . . . intronic . . . 0.0272 1.5 +1 237755076 RYR2 A G 6 0.0071885 1.769 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0242 nonsynonymous_SNV exonic T 0.0218 0.0234 0.0272 3.5 +1 237755188 RYR2 C T 100 0.335863 . MedGen:CN169374 not_specified Benign 0.5057 . intronic . 0.4748 0.4825 0.4876 1.5 +1 237755203 RYR2 T C 100 0.33746 . MedGen:CN169374 not_specified Benign 0.4833 . intronic . 0.4624 0.4824 0.4900 1.5 +1 237759023 RYR2 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237765458 RYR2 G T 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237765470 RYR2 A T 96 0.293131 . . . . . . intronic . 0.4598 . 0.4728 1.5 +1 237774017 RYR2 A G 2 0.00159744 . . . . 0.0064 . intronic . 0.0037 0.0054 0.0052 4 +1 237778082 RYR2 G A 6 0.00978435 -1.771 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0237 nonsynonymous_SNV exonic T 0.0234 0.0264 0.0280 3.5 +1 237778084 RYR2 G A 7 0.076278 0.814 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0307 nonsynonymous_SNV exonic T 0.0311 0.0308 0.0263 3.5 +1 237780803 RYR2 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237794913 RYR2 A ATT 77 0.553315 . . . . . . intronic . . . . 1.5 +1 237796837 RYR2 G A 64 0.428514 . MedGen:CN169374 not_specified Benign 0.3291 . intronic . 0.3323 0.3354 0.3469 1.5 +1 237796850 RYR2 A G 7 0.155152 . MedGen:CN169374 not_specified Benign 0.0623 . intronic . 0.0561 0.0586 0.0606 1.5 +1 237797082 RYR2 T G 64 0.440695 . . . . . . intronic . . . 0.3472 1.5 +1 237798342 RYR2 G A 17 0.029353 . MedGen:CN169374 not_specified Likely_benign 0.1169 . intronic . 0.1161 0.1135 0.1211 1.5 +1 237801770 RYR2 T C 214 0.954872 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9994 0.9998 0.9999 1.5 +1 237802559 RYR2 T C 214 0.998203 . . . . . . intronic . . . 0.9999 1.5 +1 237806606 RYR2 G GT 1 0.0129792 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0007 . intronic . 0.0006 0.0010 0.0004 1.5 +1 237806819 RYR2 G A 23 0.14357 . . . . . . intronic . . . 0.0979 1.5 +1 237811766 RYR2 C T 2 0.00159744 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0081 synonymous_SNV exonic . 0.0067 0.0060 0.0065 4 +1 237811896 RYR2 G A 1 0.000399361 7.278 . . . 0.0003 nonsynonymous_SNV exonic D 0.0001 0.0001 6.665e-05 10.5 +1 237813126 RYR2 A G 92 0.573083 . . . . . . intronic . . . 0.4504 1.5 +1 237814783 RYR2 C T 91 0.554912 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.4739 synonymous_SNV exonic . 0.4361 0.4232 0.4477 1.5 +1 237814843 RYR2 C T 1 0.00219649 . . . . . . intronic . . . . 4 +1 237817514 RYR2 GA G 40 0.447484 . . . . . . intronic . . . 0.2622 1.5 +1 237817784 RYR2 A G 33 0.353435 . . . . . . intronic . . . 0.2122 1.5 +1 237823256 RYR2 A C 12 0.0407348 . MedGen:CN169374 not_specified Benign 0.0776 . intronic . 0.0530 0.0532 0.0522 1.5 +1 237823258 RYR2 A C 1 0.000199681 . . . . 2.421e-05 . intronic . . 1.065e-05 . 6.5 +1 237829952 RYR2 G A 2 0.00119808 . . . . . . intronic . 0.0041 . 0.0023 4 +1 237831103 RYR2 C A 214 0.952077 . . . . . . intronic . . . 0.9998 1.5 +1 237831365 RYR2 C T 1 0.000998403 . . . . . . intronic . . . 0.0031 4 +1 237838001 RYR2 G A 2 0.00179712 . . . . 0.0142 . intronic . 0.0079 0.0103 0.0134 1.5 +1 237841339 RYR2 A C 1 0.000199681 . Human_Phenotype_Ontology:HP:0001627,MedGen:C4021866|Human_Phenotype_Ontology:HP:0001688,MedGen:C0085610|Human_Phenotype_Ontology:HP:0001714,MedGen:C0340279|Human_Phenotype_Ontology:HP:0005184,MedGen:C1560305|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|Human_Phenotype_Ontology:HP:0012630,MedGen:C4022814|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Abnormal_heart_morphology|Sinus_bradycardia|Ventricular_hypertrophy|Prolonged_QTc_interval|Left_ventricular_noncompaction_cardiomyopathy|Abnormality_of_the_trabecular_meshwork|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Conflicting_interpretations_of_pathogenicity 0.0006 . intronic . 0.0001 0.0004 0.0003 6.5 +1 237841390 RYR2 A G 54 0.0992412 2.365 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.3459 nonsynonymous_SNV exonic T 0.3042 0.3066 0.3170 3.5 +1 237841393 RYR2 A C 1 0.000199681 4.217 . . . 6.431e-05 nonsynonymous_SNV exonic D . 2.775e-05 . 8.5 +1 237850666 RYR2 C CT 151 0.561102 . . . . . . intronic . . . . 1.5 +1 237850703 RYR2 C T 6 0.00559105 . . . . . . intronic . . 0 0 5 +1 237850729 RYR2 C T 10 0.00958466 . . . . . . intronic . . 1.195e-05 . 6 +1 237850816 RYR2 C T 1 0.000399361 . MedGen:CN169374 not_specified Benign 0.0025 . intronic . 0.0024 0.0023 0.0020 4 +1 237862360 RYR2 A G 1 0.000199681 . . . . . . intronic . . 3.604e-05 6.67e-05 6.5 +1 237862421 RYR2 T A 1 0.000199681 . . . . . . intronic . . . 0.0013 4 +1 237862436 RYR2 T C 155 0.727436 . . . . . . intronic . . . 0.7516 1.5 +1 237863718 RYR2 T G 214 0.969249 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9994 0.9993 1.5 +1 237865203 RYR2 C T 214 0.969249 . . . . . . intronic . . . 0.9994 1.5 +1 237865451 RYR2 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237870203 RYR2 C T 6 0.00579073 . . . . 0.0106 . intronic . 0.0128 0.0113 0.0091 1.5 +1 237870542 RYR2 G A 1 0.000199681 4.327 . . . 2.619e-05 nonsynonymous_SNV exonic D . 1.011e-05 6.662e-05 8.5 +1 237872714 RYR2 GT G 208 0.765974 . . . . . . intronic . . . 0.9875 1.5 +1 237872887 RYR2 T C 6 0.00938498 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Uncertain_significance 0.0186 . intronic . 0.0166 0.0153 0.0114 1.5 +1 237875040 RYR2 C T 1 0.000599042 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0014 . intronic . 0.0004 0.0007 6.661e-05 4 +1 237875068 RYR2 C T 1 0.00339457 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0054 synonymous_SNV exonic . 0.0033 0.0039 0.0030 4 +1 237880443 RYR2 G A 1 0.00159744 . . . . . . intronic . . . 0.0017 4 +1 237881770 RYR2 C T 214 0.960463 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9995 synonymous_SNV exonic . 0.9995 0.9995 0.9995 1.5 +1 237890437 RYR2 C T 214 0.960264 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.9994 synonymous_SNV exonic . 0.9995 0.9995 0.9995 1.5 +1 237893674 RYR2 C T 214 0.985224 . MedGen:CN169374 not_specified Benign 0.9999 . intronic . 0.9998 0.9998 0.9998 1.5 +1 237905520 RYR2 A G 1 0.000599042 . . . . . . intronic . . . 0.0010 4 +1 237905568 RYR2 T TC 61 0.195088 . . . . 0.2428 . intronic . 0.2912 0.2072 0.2776 1.5 +1 237905586 RYR2 A T 1 0.0081869 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiomyopathy,_ARVC Likely_benign 0.0001 . intronic . . 0.0005 0.0012 4 +1 237923053 RYR2 C T 147 0.761581 . MedGen:CN169374 not_specified Benign 0.6849 . intronic . 0.6923 0.6833 0.6808 1.5 +1 237923243 RYR2 A G 18 0.0930511 . . . . . . intronic . . . 0.1046 1.5 +1 237934206 RYR2 C T 2 0.0061901 . MedGen:C0003811,OMIM:115000|MedGen:CN169374 Cardiac_arrhythmia|not_specified Conflicting_interpretations_of_pathogenicity 0.0229 . intronic . 0.0227 0.0285 0.0295 1.5 +1 237941906 RYR2 C A 6 0.00978435 . . . . . . intronic . . . 0.0123 1.5 +1 237941945 RYR2 G A 7 0.0445288 . MedGen:CN169374 not_specified Likely_benign 0.0427 . intronic . 0.0458 0.0452 0.0483 1.5 +1 237942082 RYR2 AACTG A 6 0.00978435 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0141 . intronic . 0.0158 0.0153 0.0123 1.5 +1 237944814 RYR2 C T 21 0.121006 . . . . . . intronic . 0.0998 . 0.0803 1.5 +1 237946964 RYR2 T C 65 0.414736 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.4541 . intronic . 0.3387 0.3349 0.3411 1.5 +1 237947000 RYR2 C T 6 0.0123802 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0170 synonymous_SNV exonic . 0.0173 0.0154 0.0130 1.5 +1 237948286 RYR2 A G 4 0.0107827 0.618 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Cardiomyopathy|Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0147 . intronic . 0.0092 0.0107 0.0080 1.5 +1 237949440 RYR2 C G 1 0.000199681 . . . . . . intronic . . . 6.661e-05 6.5 +1 237949456 RYR2 T C 15 0.0407348 . . . . . . intronic . . . 0.0565 1.5 +1 237951226 RYR2 A G 2 0.0397364 . . . . . . intronic . . . 0.0362 1.5 +1 237951451 RYR2 A G 113 0.636581 . MedGen:CN169374 not_specified Benign 0.5490 . intronic . 0.5443 0.5343 0.5375 1.5 +1 237951482 RYR2 G A 62 0.297923 . MedGen:CN169374 not_specified Benign 0.2895 . intronic . 0.2861 0.2935 0.2820 1.5 +1 237955364 RYR2 A G 14 0.0535144 . MedGen:C4053736,OMIM:604772|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia_type_1|not_specified Benign 0.0410 . intronic . 0.0312 0.0334 0.0313 1.5 +1 237955649 RYR2 CTGTG C 107 0.528155 . . . . 0.4694 . intronic . . 0.4128 0.3941 1.5 +1 237955678 RYR2 T C 107 0.528155 . . . . . . intronic . . . 0.3936 1.5 +1 237955680 RYR2 T C 107 0.528155 . . . . . . intronic . . . 0.3904 1.5 +1 237957146 RYR2 G A 125 0.734026 . MedGen:CN169374 not_specified Benign 0.6639 . intronic . 0.6579 0.6539 0.6755 1.5 +1 237957161 RYR2 A G 127 0.757588 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.6873 . intronic . 0.6785 0.6791 0.6941 1.5 +1 237957309 RYR2 A C 123 0.750799 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.6717 . intronic . 0.6684 0.6715 0.6851 1.5 +1 237958750 RYR2 A AT 109 0.647764 . . . . . . intronic . . . 0.6679 1.5 +1 237961297 RYR2 A ATGGTTGTGGTTG 5 0.00938498 . . . . . . intronic . . . . 5 +1 237965065 RYR2 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237965094 RYR2 G T 80 0.46226 . . . . . . intronic . . . 0.4195 1.5 +1 237965131 RYR2 G A 80 0.405152 . MedGen:CN169374 not_specified Benign 0.4133 . intronic . 0.4032 0.4023 0.4134 1.5 +1 237965133 RYR2 A AT 70 0.377995 . MedGen:CN169374 not_specified Likely_benign 0.3304 . intronic . . 0.3480 0.3764 1.5 +1 237969638 RYR2 A G 35 0.28774 . . . . . . intronic . . . 0.2112 1.5 +1 237972148 RYR2 C A 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237972152 RYR2 T C 4 0.0091853 . . . . 0.0087 . intronic . 0.0078 0.0090 0.0074 5 +1 237972189 RYR2 A G 4 0.0091853 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN239181 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0087 . intronic . 0.0078 0.0090 0.0074 5 +1 237991614 RYR2 G C 1 0.00179712 . . . . . . intronic . 0.0060 . 0.0089 4 +1 237991767 RYR2 T C 5 0.00938498 . . . . 0.0111 . intronic . 0.0072 0.0091 0.0082 1.5 +1 237991862 RYR2 TG T 10 0.0209665 . . . . . . intronic . . . 0.0739 1.5 +1 237993743 RYR2 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +1 237993798 RYR2 C T 3 0.00159744 . . . . 0.0040 . intronic . 0.0037 0.0033 0.0029 4 +1 237994957 RYR2 G A 1 0.158347 . . . . . . intronic . . . 0.0061 1.5 +1 237996016 RYR2 C G 1 0.000199681 . . . . . . UTR3 . . . . 6.5 +20 30407387 MYLK2 G A 4 0.00119808 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic T 0.0016 0.0017 0.0030 9.5 +20 30408306 MYLK2 C G 7 0.00838658 4.119 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0194 nonsynonymous_SNV exonic T 0.0202 0.0212 0.0203 6 +20 30409207 MYLK2 G A 1 0.000599042 . . . . 0 . intronic . . 9.153e-06 0 4 +20 30409452 MYLK2 T C 23 0.0720847 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0791 synonymous_SNV exonic . 0.0802 0.0781 0.0654 1.5 +20 30409573 MYLK2 C T 23 0.071885 . . . . 0.0786 . intronic . 0.0706 0.0744 0.0639 1.5 +20 30409584 MYLK2 G C 14 0.0549121 . . . . 0.1258 . intronic . 0.1195 0.1264 0.1177 1.5 +20 30411427 MYLK2 T C 23 0.0720847 . . . . 0.0792 . intronic . 0.0802 0.0784 0.0654 1.5 +20 30412101 MYLK2 C T 1 0.00599042 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign 0.0163 synonymous_SNV exonic . 0.0193 0.0171 0.0163 2.125 +20 30414334 MYLK2 G A 23 0.0720847 . . . . . . intronic . . . 0.0650 1.5 +20 30414503 MYLK2 C T 5 0.00499201 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Conflicting_interpretations_of_pathogenicity 0.0157 synonymous_SNV exonic . 0.0185 0.0163 0.0132 4 +20 30414528 MYLK2 G A 5 0.00958466 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0300 . intronic . 0.0265 0.0281 0.0257 1.5 +20 30414560 MYLK2 C G 23 0.0720847 . . . . 0.0789 . intronic\x3bintronic . 0.08 0.0782 0.0654 1.5 +20 30414578 MYLK2 G A 7 0.0201677 . . . . 0.0432 . intronic\x3bintronic . 0.0469 0.0444 0.0400 1.5 +20 30414621 MYLK2 C T 1 0.0081869 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3495498,OMIM:192600|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_1|not_specified Benign/Likely_benign 0.0230 synonymous_SNV exonic . 0.0216 0.0244 0.0287 2.75 +20 30418996 MYLK2 G A 4 0.00179712 . . . . 0.0048 . intronic . 0.0048 0.0044 0.0055 5 +20 30419595 MYLK2 C T 1 0.000199681 5.477 . . . 1.498e-05 nonsynonymous_SNV exonic T . 1.79e-05 . 8.5 +20 30419954 MYLK2 A G 23 0.0722843 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign/Likely_benign 0.0912 . intronic . 0.0755 0.0747 0.0637 1.5 +20 30421459 MYLK2 C T 44 0.222444 . . . . . . intronic . 0.2040 . 0.2227 7.5 +20 31996336 SNTA1 T G 2 0.0365415 3.397 . . . 3.014e-05 nonsynonymous_SNV exonic D . 1.796e-05 . -0.5 +20 32000351 SNTA1 A G 144 0.6877 . . . . 0.6942 . intronic . 0.6893 0.6956 0.6878 -2.5 +20 32000462 SNTA1 C T 2 0.0071885 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0139 synonymous_SNV exonic . 0.0195 0.0153 0.0178 -2.5 +20 32000520 SNTA1 G C 2 0.000998403 4.849 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0033 nonsynonymous_SNV exonic T 0.0030 0.0033 0.0039 2 +20 32031206 SNTA1 G A 2 0.000599042 1.143 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2751830,OMIM:612955|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_12|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0029 nonsynonymous_SNV exonic T . 0.0042 0.0038 2 +20 32031227 SNTA1 G A 1 0.000199681 1.553 MedGen:CN517202 not_provided Uncertain_significance . nonsynonymous_SNV exonic T . 0 . 4.5 +20 42743454 JPH2 A G 66 0.257388 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.3485 synonymous_SNV exonic . 0.3065 0.2967 0.3031 2.125 +20 42743559 JPH2 G A 1 0.000199681 . . . . 0 . intronic . . 0 . 6.5 +20 42743616 JPH2 G C 6 0.00499201 . . . . . . intronic . . . 0.0140 1.5 +20 42744265 JPH2 G C 14 0.104433 . . . . 0.0737 . intronic . 0.0740 0.0727 0.0732 1.5 +20 42744587 JPH2 G C 51 0.152955 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.2759 synonymous_SNV exonic . 0.1887 0.2230 0.2293 2.125 +20 42744802 JPH2 C T 3 0.0153754 0.202 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0368 nonsynonymous_SNV exonic T 0.004 0.0050 0.0081 4.125 +20 42745033 JPH2 G A 4 0.00738818 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign 0.0269 . intronic . . 0.0308 0.0320 2.125 +20 42747247 JPH2 C T 28 0.270367 5.490 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.1362 nonsynonymous_SNV exonic T 0.1290 0.1342 0.1291 4.125 +20 42747254 JPH2 G A 25 0.048722 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.0937 synonymous_SNV exonic . 0.1027 0.0951 0.1001 2.125 +20 42789053 JPH2 G A 1 0.00199681 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign 0.0032 . intronic . 0.0021 0.0027 0.0021 4.625 +20 42789056 JPH2 G C 1 0.00299521 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151264,OMIM:613873|MedGen:CN169374 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_17|not_specified Benign 0.0068 . intronic . 0.0027 0.0045 0.0055 4.625 +20 42806581 JPH2 G A 1 0.000199681 . . . . 1.498e-05 . UTR3 . . 3.658e-05 0 6.5 +20 42806597 JPH2 C T 1 0.000399361 . . . . 1.498e-05 . UTR3 . . 9.148e-06 0 6.5 +20 42814931 JPH2 T C 175 0.862819 . . . . 0.8271 . intronic . 0.8244 0.8241 0.8306 1.5 +20 42815190 JPH2 G A 175 0.854233 . MedGen:C3151264,OMIM:613873|MedGen:CN169374|MedGen:CN230736 Familial_hypertrophic_cardiomyopathy_17|not_specified|Cardiovascular_phenotype Benign 0.8316 synonymous_SNV exonic . 0.8293 0.8292 0.8375 2.125 +20 61039958 GATA5 T C 100 0.629193 . . . . 0.5152 synonymous_SNV exonic . 0.5094 0.5142 0.5374 -2.5 +20 61040014 GATA5 C T 1 0.000399361 1.651 . . . 0.0001 nonsynonymous_SNV exonic D 0.0002 7.487e-05 6.746e-05 4.5 +20 61040453 GATA5 C G 94 0.534545 . . . . 0.4912 synonymous_SNV exonic . 0.4841 0.4921 0.5042 -2.5 +20 61040951 GATA5 C T 95 0.529553 . . . . 0.5459 synonymous_SNV exonic . 0.4776 0.4787 0.4993 -2.5 +20 61040991 GATA5 C T 1 0.000199681 . . . . 0.0002 . intronic . 0.0002 0.0001 0.0003 2.5 +20 61041422 GATA5 C T 1 0.000399361 . . . . . . intronic . . . . 2.5 +20 61041640 GATA5 G A 1 0.000599042 . . . . 0.0019 . intronic . 0.0010 0.0015 0.0009 0 +20 61041651 GATA5 G A 1 0.000199681 . . . . 0.0003 . intronic . . 0.0002 . 2.5 +20 61041653 GATA5 G C 94 0.420327 . . . . 0.4323 . intronic . 0.3733 0.4111 0.4132 -2.5 +20 61048460 GATA5 A G 2 0.00219649 3.750 . . . 0.0033 nonsynonymous_SNV exonic D 0.0014 0.0021 0.0016 2 +20 61048549 GATA5 G A 94 0.388179 . . . . 0.4679 synonymous_SNV exonic . 0.4344 0.4383 0.4330 -2.5 +20 61050082 GATA5 C T 1 0.00239617 2.628 . . . 0 nonsynonymous_SNV exonic T 0.0001 8.473e-05 0 2 +20 61050154 GATA5 A G 1 0.000599042 4.737 MedGen:CN169374 not_specified Uncertain_significance 0.0042 nonsynonymous_SNV exonic D 0.0002 0.0001 0.0005 2 +20 61050379 GATA5 T G 35 0.142572 0.113 . . . 0.2407 nonsynonymous_SNV exonic T . 0.1733 0.1805 -0.5 +20 61050552 GATA5 G C 1 0.000998403 1.970 . . . 0 nonsynonymous_SNV exonic D . 0 . 2 +20 61050625 GATA5 G A 5 0.101837 . . . . 0.0279 . intronic . 0.0070 0.0118 0.0090 -2.5 +21 35742722 KCNE2 C T 34 0.286941 . . . . . . intronic . . . 0.1445 1.5 +21 35742750 KCNE2 A G 4 0.0744808 . MedGen:CN169374 not_specified Benign 0.0275 . intronic . 0.0316 0.0291 0.0288 1.5 +21 35742947 KCNE2 T C 2 0.000798722 5.453 MedGen:C0003811,OMIM:115000|MedGen:C3150953,OMIM:613693|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Cardiac_arrhythmia|Long_QT_syndrome_6|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic D 0.0002 0.0011 0.0001 8 +21 35821609 KCNE1 G A 1 0.000199681 . . . . 3.03e-05 synonymous_SNV exonic . . 1.793e-05 . 2.5 +21 35821680 KCNE1 C T 1 0.00379393 2.892 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C3150956|MedGen:C3150957|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Long_QT_syndrome_5,_acquired,_susceptibility_to|Long_QT_syndrome_2/5|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity,_other,_risk_factor 0.0132 nonsynonymous_SNV exonic T 0.0122 0.0125 0.0103 -0.5 +21 35821821 KCNE1 T C 127 0.673922 -1.420 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:C2751629,OMIM:613035|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Hearing_loss,_noise-induced,_susceptibility_to|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign 0.6443 nonsynonymous_SNV exonic T 0.6369 0.6420 0.6458 -0.5 +21 35821849 KCNE1 C T 1 0.00379393 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0022387,Orphanet:ORPHA90647,SNOMED_CT:373905003|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Jervell_and_Lange-Nielsen_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0051 synonymous_SNV exonic . 0.0056 0.0055 0.0049 0 +21 35821939 KCNE1 C T 1 0.000399361 0.846 . . . 0 . UTR5 . . 0 . 2.5 +22 19864694 TXNRD2 C T 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0005 unknown exonic . 0.0001 0.0001 0.0003 4 +22 19865925 TXNRD2 C T 1 0.000199681 . . . . 0 unknown exonic . . 8.952e-06 . 6.5 +22 19867771 TXNRD2 C T 41 0.269169 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1620 unknown exonic . 0.1615 0.1619 0.1510 4.5 +22 19868218 TXNRD2 A G 162 0.718251 2.110 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.7400 unknown exonic T 0.7377 0.7391 0.7310 1.5 +22 19868228 TXNRD2 G A 1 0.0169728 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0044 unknown exonic . 0.0044 0.0039 0.0021 2.125 +22 19868255 TXNRD2 AG A 42 0.156749 . MedGen:CN169374 not_specified Benign 0.1660 . intronic . 0.1610 0.1565 0.1480 1.5 +22 19870831 TXNRD2 C T 68 0.221645 . MedGen:CN169374 not_specified Benign 0.3069 . intronic . 0.2962 0.3038 0.3008 4.5 +22 19871018 TXNRD2 C T 1 0.000199681 . . . . 1.503e-05 . intronic . 0.0001 8.964e-06 . 6.5 +22 19882984 TXNRD2 T G 32 0.251198 -1.829 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1665 nonsynonymous_SNV exonic T 0.1662 0.1666 0.1572 9.5 +22 19883123 TXNRD2 C T 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 0.0009 . intronic . 0.0004 0.0009 0.0006 4 +22 19885548 TXNRD2 G T 32 0.242212 . MedGen:CN169374 not_specified Benign 0.2105 . intronic . 0.1568 0.1687 0.1568 7.5 +22 19898818 TXNRD2 C A 1 0.0483227 . . . . . . intronic . . . 0.0186 4.5 +22 19898837 TXNRD2 A G 116 0.751198 . . . . . . intronic . 0.5632 . 0.5662 1.5 +22 19898886 TXNRD2 C T 18 0.171526 . MedGen:CN169374 not_specified Benign 0.0908 . intronic . 0.0903 0.0908 0.1058 1.5 +22 19898887 TXNRD2 G A 1 0.048123 . MedGen:CN169374 not_specified Benign 0.0194 . intronic . 0.0214 0.0205 0.0185 4.5 +22 19899061 TXNRD2 G C 1 0.0483227 . . . . . . intronic . . . 0.0184 4.5 +22 19902671 TXNRD2 C T 8 0.0585064 . . . . . . intronic . 0.0525 . 0.0408 4.5 +22 19902896 TXNRD2 C T 76 0.507987 . . . . . . intronic . . . 0.3803 1.5 +22 19905802 TXNRD2 G A 114 0.7498 . . . . . . intronic . 0.5597 . 0.5638 1.5 +22 19906367 TXNRD2 G T 1 0.00259585 . MedGen:CN169374 not_specified Benign 0.0004 . intronic . 0.0007 0.0005 0.0001 4 +22 19906370 TXNRD2 G A 7 0.0297524 . MedGen:CN169374 not_specified Benign 0.0248 . intronic . 0.0297 0.0276 0.0226 1.5 +22 19906511 TXNRD2 G A 30 0.168131 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1510 synonymous_SNV exonic . 0.1476 0.1457 0.1431 4.5 +22 19907099 TXNRD2 C A 76 0.483027 6.178 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.4078 nonsynonymous_SNV exonic T 0.3312 0.3327 0.3772 3.5 +22 19907118 TXNRD2 G A 105 0.596845 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.5426 synonymous_SNV exonic . 0.4793 0.4826 0.5193 1.5 +22 19907192 TXNRD2 A G 113 0.754393 . . . . . . intronic . 0.5575 . 0.5641 1.5 +22 19918723 TXNRD2 G A 10 0.0107827 . . . . . . intronic . . . 0.0289 1.5 +2 39224112 SOS1 T C 1 0.000599042 1.576 MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Noonan_syndrome|Rasopathy|not_specified Benign 0.0030 nonsynonymous_SNV exonic T 0.0028 0.0033 0.0040 2 +2 39224351 SOS1 G T 199 0.90016 . MedGen:CN169374 not_specified Benign 0.9337 . intronic . 0.9369 0.9338 0.9394 -2.5 +2 39224614 SOS1 A G 2 0.00359425 . MedGen:CN169374 not_specified Likely_benign 0.0390 . intronic . . 0.0326 0.0309 -2.5 +2 39224615 SOS1 G GT 199 0.787939 . MedGen:CN169374 not_specified Benign 0.9319 . intronic . 0.9326 0.9327 0.9393 -2.5 +2 39233500 SOS1 G A 199 0.905152 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006 Noonan_syndrome Benign . . intronic . . . 0.9383 -2.5 +2 39239386 SOS1 T G 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 2.5 +2 39240758 SOS1 C T 1 0.000399361 . . . . . . intronic . . . 0.0005 0 +2 39241107 SOS1 G A 4 0.00319489 1.732 MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Rasopathy|not_specified Benign 0.0122 nonsynonymous_SNV exonic T 0.0098 0.0116 0.0103 -0.5 +2 39249896 SOS1 A G 1 0.000199681 2.765 . . . . nonsynonymous_SNV exonic D . . . 4.5 +2 39250386 SOS1 A G 1 0.00778754 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.0100 . intronic . 0.0077 0.0089 0.0091 0 +2 39262348 SOS1 C G 1 0.00279553 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN517202 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified|not_provided Benign 0.0164 . intronic . 0.0081 0.0117 0.0155 -2.5 +2 39278394 SOS1 A G 1 0.000199681 5.873 MedGen:CN517202 not_provided Uncertain_significance 7.496e-05 nonsynonymous_SNV exonic D . 7.168e-05 . 6.5 +2 39278497 SOS1 A G 1 0.000399361 . . . . . . intronic . . . 0.0007 0 +2 39281730 SOS1 G C 199 0.891374 . MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN169374 Noonan_syndrome|not_specified Benign 0.9131 . intronic . 0.9209 0.9157 0.9187 -2.5 +2 39281905 SOS1 G A 2 0.000998403 . Human_Phenotype_Ontology:HP:0000169,MedGen:C0016049|MeSH:D009634,MedGen:C0028326,Orphanet:ORPHA648,SNOMED_CT:205824006|MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374 Gingival_fibromatosis|Noonan_syndrome|Rasopathy|not_specified Benign 0.0035 synonymous_SNV exonic . 0.0045 0.0036 0.0033 0 +2 39283784 SOS1 G C 4 0.00658946 . . . . . . intronic . . . 0.0188 -2.5 +2 39285762 SOS1 G C 6 0.0515176 . . . . . . intronic . 0.0131 . 0.0115 -2.5 +2 39347388 SOS1 GC G 12 0.0135783 . . . . . . intronic . . . 0.0226 -2.5 +2 47389342 CALM2 A C 20 0.205072 . . . . . . intronic . . . 0.0752 -2.5 +2 47389467 CALM2 G A 2 0.000599042 . MedGen:C0035828,OMIM:192500,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome_1|not_specified Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0010 0.0013 0.0005 0 +2 47389842 CALM2 T C 2 0.00559105 . . . . 0.0002 . intronic . 0.0003 0.0003 0.0004 0 +2 105977761 FHL2 G A 40 0.111422 . MedGen:CN169374 not_specified Benign 0.1934 synonymous_SNV exonic . 0.1959 0.1935 0.1913 1.5 +2 105977776 FHL2 G A 25 0.0517173 . MedGen:CN169374 not_specified Benign 0.1184 synonymous_SNV exonic . 0.1270 0.1223 0.1172 1.5 +2 105977903 FHL2 G C 25 0.305511 . MedGen:CN169374 not_specified Benign 0.1310 . intronic . 0.1364 0.1332 0.1422 1.5 +2 105979730 FHL2 C A 81 0.277356 . MedGen:CN169374 not_specified Benign 0.3779 . intronic . 0.3766 0.3798 0.3795 4.5 +2 105979752 FHL2 G A 2 0.00459265 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:CN169374 Primary_dilated_cardiomyopathy|not_specified Benign 0.0075 synonymous_SNV exonic . 0.0126 0.0098 0.0103 2.125 +2 105979986 FHL2 C T 3 0.00219649 . . . . . . intronic . . . 0.0053 4 +2 179391754 TTN A G 1 0.000399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0010 synonymous_SNV exonic . 0.0011 0.0013 0.0013 6.5 +2 179392015 TTN T C 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0018 synonymous_SNV exonic . 0.0018 0.0016 0.0017 4.625 +2 179392080 na A T 26 0.209065 . MedGen:CN169374 not_specified Benign 0.1488 . ncRNA_intronic . 0.1461 0.1444 0.1545 -2.5 +2 179392277 TTN A G 1 0.00219649 1.541 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0016 0.0009 0.0006 8.5 +2 179393111 TTN A G 15 0.0920527 0.471 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0216 nonsynonymous_SNV exonic T 0.0207 0.0205 0.0187 4.75 +2 179393691 TTN G A 1 0.00379393 3.210 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0094 nonsynonymous_SNV exonic T 0.0068 0.0083 0.0160 4.75 +2 179393840 TTN C T 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0018 synonymous_SNV exonic . 0.0020 0.0017 0.0017 6.5 +2 179393859 TTN A G 6 0.00459265 2.010 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0201 nonsynonymous_SNV exonic T 0.0178 0.0176 0.0172 6 +2 179395067 TTN C G 15 0.0509185 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0878 synonymous_SNV exonic . 0.0874 0.0890 0.0873 1.5 +2 179395554 TTN G A 5 0.00519169 2.704 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0165 nonsynonymous_SNV exonic T 0.0143 0.0163 0.0153 3.5 +2 179395555 TTN C A 5 0.00519169 2.275 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0165 nonsynonymous_SNV exonic T 0.0143 0.0163 0.0153 3.5 +2 179395560 TTN G A 15 0.0792732 3.557 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 nonsynonymous_SNV exonic T 0.0208 0.0205 0.0186 4.75 +2 179395573 TTN C T 7 0.00658946 4.028 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0201 nonsynonymous_SNV exonic T 0.0175 0.0203 0.0186 4.125 +2 179395760 TTN G A 15 0.091254 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0215 synonymous_SNV exonic . 0.0205 0.0206 0.0189 2.75 +2 179395874 TTN C T 1 0.00319489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0116 synonymous_SNV exonic . 0.0119 0.0113 0.01 4 +2 179395958 TTN T C 57 0.508187 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2314 synonymous_SNV exonic . 0.2231 0.2261 0.2310 1.5 +2 179396162 TTN C G 9 0.0229633 2.686 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0418 nonsynonymous_SNV exonic T 0.0436 0.0438 0.0486 4.75 +2 179396354 TTN G A 26 0.231829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1451 0.1444 0.1547 1.5 +2 179396573 TTN T G 1 0.00379393 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0095 synonymous_SNV exonic . 0.0068 0.0083 0.0159 2.75 +2 179396766 TTN C T 1 0.00359425 3.918 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0176 nonsynonymous_SNV exonic T 0.0145 0.0171 0.0221 4.75 +2 179396782 TTN C G 2 0.00239617 2.504 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0072 nonsynonymous_SNV exonic T 0.0090 0.0084 0.0074 8.5 +2 179397561 TTN C T 26 0.208666 4.497 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1455 nonsynonymous_SNV exonic T 0.1442 0.1441 0.1542 3.5 +2 179398195 TTN C G 1 0.00219649 2.784 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic T 0.0006 0.0012 0.0022 8.5 +2 179398509 TTN C A 15 0.0780751 3.098 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0212 nonsynonymous_SNV exonic T 0.0198 0.0202 0.0185 4.75 +2 179398591 TTN T C 2 0.00119808 0.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic T 0.0012 0.0014 0.0019 8.5 +2 179398747 TTN T C 2 0.00599042 1.457 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 +2 179398823 TTN G A 26 0.232029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1468 synonymous_SNV exonic . 0.1465 0.1447 0.1549 1.5 +2 179398989 TTN C T 1 0.000199681 3.802 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.797e-05 0 8.5 +2 179399071 TTN G A 2 0.000798722 3.933 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0016 0.0014 0.0013 8.5 +2 179399451 TTN C T 2 0.00599042 4.009 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 +2 179399537 TTN A C 1 0.000199681 0.640 MedGen:CN169374 not_specified Uncertain_significance 4.533e-05 nonsynonymous_SNV exonic D . 3.595e-05 6.663e-05 8.5 +2 179399576 TTN C G 4 0.00459265 1.720 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0099 nonsynonymous_SNV exonic T 0.0104 0.0110 0.0099 6 +2 179399677 TTN C T 2 0.00119808 2.339 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0055 nonsynonymous_SNV exonic T 0.0065 0.0062 0.0052 7.25 +2 179399936 TTN G C 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0020 0.0016 0.0017 6.5 +2 179400586 na A G 3 0.0233626 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2483 . ncRNA_intronic . 0.0050 0.0647 0.0254 -1.25 +2 179400895 TTN C T 13 0.0654952 3.526 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0182 nonsynonymous_SNV exonic T 0.0174 0.0179 0.0169 4.75 +2 179401074 TTN A C 2 0.000798722 2.164 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 0.0006 nonsynonymous_SNV exonic D 0.0006 0.0005 0.0003 6 +2 179401311 na C CA 2 0.00359425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0066 . ncRNA_intronic . 0.0072 0.0063 0.0094 2.5 +2 179401740 TTN C T 3 0.0231629 3.001 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0266 nonsynonymous_SNV exonic T 0.0207 0.0235 0.0243 4.75 +2 179401742 TTN C T 2 0.00479233 4.269 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0193 nonsynonymous_SNV exonic T 0.0210 0.0201 0.0199 4.75 +2 179401777 TTN A T 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0018 0.0016 0.0017 6.5 +2 179402301 TTN A T 1 0.000199681 . . . . 1.502e-05 synonymous_SNV exonic . . 8.971e-06 . 6.5 +2 179402474 TTN G A 3 0.000599042 4.461 MedGen:CN169374 not_specified Uncertain_significance 4.506e-05 nonsynonymous_SNV exonic T . 2.688e-05 6.665e-05 6 +2 179403425 TTN G A 1 0.000199681 3.515 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.978e-06 . 8.5 +2 179403593 na G A 26 0.185104 . . . . 0.1466 . ncRNA_exonic . 0.1444 0.1443 0.1547 -2.5 +2 179403750 TTN C T 10 0.076877 4.332 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0324 nonsynonymous_SNV exonic T 0.0287 0.0323 0.0284 3.5 +2 179404197 TTN T C 3 0.00399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0177 synonymous_SNV exonic . 0.0166 0.0175 0.0163 4 +2 179404293 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0020 0.0017 0.0017 6.5 +2 179404402 TTN T C 6 0.00399361 1.106 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0067 nonsynonymous_SNV exonic T 0.0081 0.0071 0.0057 8.25 +2 179404461 TTN C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 9.012e-06 . 6.5 +2 179404498 TTN G C 1 0.000998403 2.862 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic T 0.0041 0.0044 0.0041 8.5 +2 179404550 TTN G A 1 0.00139776 3.839 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0052 nonsynonymous_SNV exonic T 0.0041 0.0053 0.0108 6 +2 179404628 TTN T A 13 0.0425319 2.893 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0177 nonsynonymous_SNV exonic T 0.0170 0.0177 0.0167 4.75 +2 179404786 na A T 26 0.232628 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1471 . ncRNA_intronic . 0.1464 0.1443 0.1551 -2.5 +2 179406003 na C A 56 0.504593 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2610 . ncRNA_intronic . 0.2102 0.2152 0.2295 -2.5 +2 179406191 TTN C T 26 0.209265 5.326 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1472 nonsynonymous_SNV exonic T 0.1453 0.1439 0.1545 3.5 +2 179407663 TTN G A 2 0.00119808 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign 0.0011 synonymous_SNV exonic . 0.0012 0.0010 0.0008 5.25 +2 179408713 TTN A G 11 0.115815 2.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0343 nonsynonymous_SNV exonic T 0.0322 0.0347 0.0300 3.5 +2 179410282 TTN A G 3 0.00559105 2.442 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0158 nonsynonymous_SNV exonic T 0.0159 0.0174 0.0150 6 +2 179410468 na A G 2 0.00599042 . . . . 0.0017 . ncRNA_intronic . 0.0020 0.0016 0.0017 0 +2 179410666 TTN G A 2 0.00599042 2.870 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 +2 179410704 TTN G A 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0117 synonymous_SNV exonic . 0.0108 0.0119 0.0105 4 +2 179410815 TTN G A 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0017 synonymous_SNV exonic . 0.0019 0.0016 0.0017 4.625 +2 179411011 TTN T C 3 0.0223642 1.667 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0205 0.0233 0.0236 4.75 +2 179411207 TTN A T 1 0.00179712 2.403 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0038 nonsynonymous_SNV exonic T 0.0035 0.0030 0.0033 8.5 +2 179411212 TTN G A 1 0.000399361 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0015 synonymous_SNV exonic . 0.0015 0.0017 0.0017 6.5 +2 179411665 na A G 41 0.327476 . . . . 0.1698 . ncRNA_intronic\x3bncRNA_intronic . 0.1683 0.1661 0.1749 -2.5 +2 179412966 TTN G A 3 0.00898562 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0316 synonymous_SNV exonic . 0.0284 0.0312 0.0311 2.75 +2 179413110 TTN G A 26 0.234225 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1470 synonymous_SNV exonic . 0.1460 0.1448 0.1548 1.5 +2 179413452 TTN G A 7 0.0121805 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0280 synonymous_SNV exonic . 0.0315 0.0294 0.0241 4 +2 179413657 TTN A G 1 0.000199681 2.176 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0004 0.0005 0.0004 8.5 +2 179414177 TTN G A 1 0.00199681 2.180 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0030 nonsynonymous_SNV exonic D 0.0023 0.0032 0.0036 8.5 +2 179414318 TTN C T 10 0.15016 2.929 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0337 nonsynonymous_SNV exonic T 0.0308 0.0334 0.0294 3.5 +2 179414633 na C A 41 0.323482 . . . . 0.1682 . ncRNA_intronic . 0.1680 0.1662 0.1751 -2.5 +2 179414705 na A T 3 0.0223642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0259 . ncRNA_intronic . 0.0196 0.0234 0.0235 -1.25 +2 179414800 TTN C T 2 0.00599042 3.867 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 +2 179415013 na G A 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0017 . ncRNA_intronic . 0.0015 0.0016 0.0017 0 +2 179415833 TTN G A 1 0.000199681 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . . 0.0002 0.0001 6.5 +2 179415942 TTN A C 1 0.000199681 3.814 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.996e-06 . 8.5 +2 179416556 TTN A C 11 0.152356 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0352 synonymous_SNV exonic . 0.0328 0.0354 0.0311 1.5 +2 179416801 TTN A C 2 0.00599042 1.496 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 +2 179417091 TTN C T 2 0.0061901 3.757 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0020 0.0017 0.0021 8.5 +2 179417415 TTN C T 1 0.000199681 1.435 . . . 1.499e-05 nonsynonymous_SNV exonic T . 1.794e-05 . 8.5 +2 179417633 TTN C T 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0018 synonymous_SNV exonic . 0.0019 0.0016 0.0017 4.625 +2 179418144 na C T 1 0.000199681 . . . . 0.0001 . ncRNA_intronic . 0.0001 0.0001 6.67e-05 2.5 +2 179418306 TTN C T 1 0.000199681 3.208 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0009 8.5 +2 179419342 TTN G A 1 0.000199681 4.209 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.995e-06 . 8.5 +2 179419792 TTN G A 3 0.00179712 3.106 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0045 0.0044 0.0077 8.5 +2 179421609 TTN C T 10 0.0842652 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0325 synonymous_SNV exonic . 0.0291 0.0324 0.0284 1.5 +2 179421694 TTN A G 56 0.507188 -0.530 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2298 nonsynonymous_SNV exonic T 0.2206 0.2240 0.2291 3.5 +2 179422073 TTN G A 1 0.000199681 2.379 . . . . nonsynonymous_SNV exonic T . . . 8.5 +2 179422181 TTN C T 1 0.00259585 2.139 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0022 nonsynonymous_SNV exonic T 0.0010 0.0019 0.0041 8.5 +2 179422286 na C A 1 0.000798722 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0027 . ncRNA_intronic . 0.0025 0.0030 0.0023 2.5 +2 179422669 TTN G T 2 0.00219649 1.974 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic D 0.0001 0.0006 0.0007 8.5 +2 179422834 TTN C A 1 0.000199681 1.943 . . . 1.501e-05 nonsynonymous_SNV exonic T . 9.011e-06 . 8.5 +2 179423099 TTN A G 3 0.0223642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0257 synonymous_SNV exonic . 0.0208 0.0233 0.0236 2.75 +2 179423168 TTN T C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +2 179424048 TTN T C 9 0.0161741 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0314 synonymous_SNV exonic . 0.0324 0.0312 0.0344 2.75 +2 179424558 TTN C T 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0117 synonymous_SNV exonic . 0.0118 0.0113 0.0102 2.75 +2 179424734 TTN C T 1 0.000199681 4.062 . . . 1.506e-05 nonsynonymous_SNV exonic T . 9.076e-06 . 8.5 +2 179424834 TTN C T 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0001 synonymous_SNV exonic . 0.0001 0.0001 0.0001 9 +2 179425470 TTN G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 3.01e-05 synonymous_SNV exonic . . 3.599e-05 . 6.5 +2 179425988 TTN G A 2 0.000399361 3.592 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0007 0.0010 0.0010 8.5 +2 179426219 TTN T C 1 0.000399361 0.707 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 8.5 +2 179426596 TTN C T 2 0.000599042 2.154 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0009 0.0010 0.0007 8.5 +2 179426682 TTN T C 1 0.000199681 . . . . 1.513e-05 synonymous_SNV exonic . . 1.806e-05 . 6.5 +2 179427186 TTN A G 57 0.508786 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2312 synonymous_SNV exonic . 0.2228 0.2252 0.2311 1.5 +2 179427536 TTN T C 57 0.508387 0.936 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2335 nonsynonymous_SNV exonic T 0.2229 0.2261 0.2309 3.5 +2 179428119 TTN C T 4 0.00778754 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0079 synonymous_SNV exonic . 0.0073 0.0077 0.0097 7.5 +2 179428299 TTN G T 2 0.00579073 1.633 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic T 0.0018 0.0016 0.0017 8.5 +2 179429004 TTN G A 3 0.0221645 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0250 synonymous_SNV exonic . 0.0206 0.0232 0.0235 2.75 +2 179429301 TTN A G 1 0.00299521 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0056 synonymous_SNV exonic . 0.0065 0.0058 0.0045 5.25 +2 179429612 TTN A G 2 0.000599042 1.929 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0005 8.5 +2 179430060 TTN G T 3 0.0221645 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0250 synonymous_SNV exonic . 0.0206 0.0232 0.0235 2.75 +2 179430105 TTN C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 8.992e-06 . 6.5 +2 179430137 TTN T G 1 0.000399361 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign/Likely_benign 0.0001 synonymous_SNV exonic . . 0.0001 0.0002 7.75 +2 179430997 TTN G A 41 0.342252 2.294 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1691 nonsynonymous_SNV exonic T 0.1669 0.1655 0.1745 3.5 +2 179431076 TTN C G 8 0.00738818 2.573 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0190 nonsynonymous_SNV exonic D 0.0200 0.0198 0.0245 4.125 +2 179431594 TTN A G 3 0.0223642 1.803 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0252 nonsynonymous_SNV exonic T 0.0207 0.0234 0.0236 4.75 +2 179431797 TTN A T 15 0.0926518 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 synonymous_SNV exonic . 0.0208 0.0209 0.0197 2.75 +2 179432004 TTN A G 2 0.00119808 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0004 synonymous_SNV exonic . 0.0009 0.0005 0.0001 6.5 +2 179432185 TTN A G 52 0.129992 3.368 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3013 nonsynonymous_SNV exonic T 0.3030 0.3052 0.3241 3.5 +2 179433221 TTN T C 3 0.0223642 0.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0209 0.0234 0.0236 4.75 +2 179433580 TTN T C 3 0.0223642 0.998 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0206 0.0233 0.0235 4.75 +2 179433654 TTN C T 2 0.000399361 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0010 synonymous_SNV exonic . 0.0011 0.0010 0.0006 5.25 +2 179434139 TTN A G 3 0.0223642 1.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0251 nonsynonymous_SNV exonic T 0.0207 0.0234 0.0235 4.75 +2 179434303 TTN A G 1 0.000199681 2.873 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 3.115e-05 nonsynonymous_SNV exonic T 0.0001 6.347e-05 . 8.5 +2 179434516 TTN C T 15 0.0792732 2.413 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0222 nonsynonymous_SNV exonic T 0.0202 0.0208 0.0193 4.75 +2 179435337 TTN T G 11 0.143171 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0351 synonymous_SNV exonic . 0.0327 0.0353 0.0307 1.5 +2 179435418 TTN T C 1 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0054 synonymous_SNV exonic . 0.0059 0.0057 0.0059 5.25 +2 179436020 TTN G A 26 0.208067 3.394 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1448 nonsynonymous_SNV exonic T 0.1442 0.1436 0.1528 3.5 +2 179436257 TTN T C 1 0.000399361 0.906 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 8.5 +2 179436303 TTN G C 1 0.000199681 . . . . 7.569e-05 synonymous_SNV exonic . . 2.726e-05 . 6.5 +2 179437034 TTN C G 1 0.00159744 2.191 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0024 0.0037 0.0059 8.5 +2 179438235 TTN T C 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0019 0.0017 0.0017 6.5 +2 179438866 TTN C T 9 0.0978435 4.024 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0326 nonsynonymous_SNV exonic T 0.0292 0.0326 0.0286 3.5 +2 179439511 TTN C T 1 0.000199681 4.171 MedGen:CN169374 not_specified Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 6.668e-05 8.5 +2 179440029 TTN G A 50 0.146565 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2979 synonymous_SNV exonic . 0.2975 0.3020 0.3216 1.5 +2 179440182 TTN A G 1 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0044 synonymous_SNV exonic . 0.0051 0.0043 0.0070 5.25 +2 179441119 TTN G A 1 0.00778754 2.369 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 4.695e-05 nonsynonymous_SNV exonic T 0.0001 5.205e-05 6.665e-05 7.25 +2 179441295 TTN T C 1 0.00299521 1.439 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0095 nonsynonymous_SNV exonic D 0.0092 0.0085 0.0074 6.625 +2 179441738 TTN A G 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +2 179441932 TTN G A 1 0.000998403 2.114 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0048 nonsynonymous_SNV exonic D 0.0052 0.0055 0.0049 8.5 +2 179442292 na TA T 26 0.0678914 . . . . 0.1651 . ncRNA_intronic\x3bncRNA_intronic . 0.1192 0.1623 0.1109 -2.5 +2 179442784 TTN C G 1 0.000798722 2.997 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0027 nonsynonymous_SNV exonic D 0.0031 0.0026 0.002 8.5 +2 179443540 TTN A G 11 0.135982 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0351 synonymous_SNV exonic . 0.0327 0.0353 0.0309 1.5 +2 179444137 na A G 42 0.347444 . MedGen:CN169374 not_specified Benign 0.1730 . ncRNA_intronic . 0.1688 0.1675 0.1758 -2.5 +2 179444166 na G A 1 0.000399361 . . . . 7.976e-05 . ncRNA_intronic . . 6.101e-05 0 2.5 +2 179444289 TTN A G 5 0.0283546 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0269 synonymous_SNV exonic . 0.0225 0.0251 0.0254 2.75 +2 179444626 na A C 3 0.0223642 . . . . 0.0252 . ncRNA_intronic\x3bncRNA_intronic . 0.0207 0.0234 0.0237 -2.5 +2 179444768 TTN C G 214 0.994609 -0.011 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 nonsynonymous_SNV exonic T 0.9999 0.9997 0.9999 3.5 +2 179444939 TTN C T 48 0.351238 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1776 nonsynonymous_SNV exonic T 0.1769 0.1739 0.1805 3.5 +2 179446381 TTN C T 8 0.00579073 3.234 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0225 nonsynonymous_SNV exonic T 0.0219 0.0223 0.0175 6 +2 179447848 TTN T C 58 0.513778 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2377 synonymous_SNV exonic . 0.2244 0.2271 0.2316 1.5 +2 179448315 na A C 5 0.0391374 . MedGen:CN169374 not_specified Benign 0.0375 . ncRNA_exonic . 0.0227 0.0248 0.0255 -2.5 +2 179448967 na A AAAC 5 0.0920527 . . . . 0.0270 . ncRNA_intronic . 0.0237 0.0260 0.0244 -2.5 +2 179449131 TTN G A 7 0.0107827 3.355 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0374 nonsynonymous_SNV exonic T 0.0426 0.0398 0.0350 4.75 +2 179449186 TTN G A 2 0.0129792 4.103 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0036 nonsynonymous_SNV exonic T 0.0028 0.0026 0.0016 4.75 +2 179449579 TTN C T 2 0.00599042 2.898 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0017 nonsynonymous_SNV exonic D 0.0019 0.0016 0.0017 8.5 +2 179451420 TTN G A 56 0.507588 3.015 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2301 nonsynonymous_SNV exonic T 0.2197 0.2241 0.2281 3.5 +2 179451906 TTN G A 2 0.0131789 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0060 synonymous_SNV exonic . 0.0053 0.0058 0.0059 2.75 +2 179453429 TTN G A 4 0.00579073 -0.383 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0143 nonsynonymous_SNV exonic T 0.0163 0.0139 0.0127 6 +2 179454394 TTN A G 57 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2326 synonymous_SNV exonic . 0.2249 0.2270 0.2314 1.5 +2 179454530 TTN C T 1 0.000998403 3.623 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic T 0.0043 0.0043 0.0039 8.5 +2 179455207 TTN T C 57 0.51238 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2330 synonymous_SNV exonic . 0.2242 0.2269 0.2315 1.5 +2 179455352 TTN C T 1 0.00119808 3.890 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0062 nonsynonymous_SNV exonic T 0.0043 0.0063 0.0042 7.25 +2 179455595 TTN T C 1 0.000199681 0.486 . . . 1.502e-05 nonsynonymous_SNV exonic T . 9.029e-06 . 8.5 +2 179456310 na C G 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 +2 179457147 TTN G A 27 0.213059 2.159 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1473 0.1444 0.1539 3.5 +2 179457446 na A G 20 0.10004 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0259 -2.5 +2 179457457 na G T 1 0.000199681 . . . . 1.503e-05 . ncRNA_intronic\x3bncRNA_intronic . . 9.062e-06 . 2.5 +2 179457928 TTN G T 1 0.000199681 . . . . 1.501e-05 synonymous_SNV exonic . . 9.013e-06 . 6.5 +2 179458591 TTN C T 27 0.21246 4.706 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1465 nonsynonymous_SNV exonic T 0.1473 0.1453 0.1540 3.5 +2 179460433 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0023 synonymous_SNV exonic . 0.0018 0.0016 0.0017 6.5 +2 179460557 na A T 5 0.0285543 . . . . 0.0354 . ncRNA_intronic . 0.0208 0.0239 0.0252 -2.5 +2 179462494 TTN A G 50 0.126997 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3002 synonymous_SNV exonic . 0.3001 0.3054 0.3235 1.5 +2 179462580 na T C 1 0.000199681 . . . . 1.504e-05 . ncRNA_intronic\x3bncRNA_intronic . . 9.025e-06 6.668e-05 2.5 +2 179462796 na A G 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 1.502e-05 . ncRNA_intronic . . 1.817e-05 6.663e-05 2.5 +2 179463422 na A G 1 0.00219649 . . . . 0.0094 . ncRNA_intronic\x3bncRNA_intronic . 0.0103 0.0097 0.0079 -2.5 +2 179463446 na T TA 9 0.0265575 . . . . 0.0318 . ncRNA_intronic\x3bncRNA_intronic . 0.0295 0.0304 0.0294 -2.5 +2 179463823 na T A 5 0.00658946 . . . . 0.0079 . ncRNA_intronic\x3bncRNA_intronic . 0.0065 0.0086 0.0063 1 +2 179463991 TTN C T 1 0.00359425 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0122 synonymous_SNV exonic . 0.0110 0.0122 0.0107 2.75 +2 179464245 na A G 5 0.0285543 . . . . 0.0272 . ncRNA_intronic . 0.0225 0.0258 0.0253 -2.5 +2 179464527 TTN T C 57 0.51278 2.157 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2340 nonsynonymous_SNV exonic T 0.2261 0.2276 0.2319 3.5 +2 179464637 na A T 1 0.00219649 . . . . . . ncRNA_intronic . . . 0.0023 0 +2 179465706 TTN A T 1 0.000199681 1.091 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0007 0.0006 0.0003 8.5 +2 179466859 TTN A G 1 0.000599042 2.502 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Uncertain_significance 7.541e-05 nonsynonymous_SNV exonic T . 8.27e-05 0.0001 6 +2 179467070 TTN A G 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 7.516e-05 synonymous_SNV exonic . . 8.118e-05 . 7.75 +2 179467226 TTN G C 3 0.00159744 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0014 synonymous_SNV exonic . 0.0007 0.0010 0.0004 5.25 +2 179468704 TTN A G 2 0.000798722 1.896 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0008 0.0011 0.0015 8.5 +2 179469386 na A G 12 0.119209 . . . . 0.0410 . ncRNA_intronic . 0.0358 0.0381 0.0367 -2.5 +2 179470047 na C A 7 0.0832668 . . . . 0.0147 . ncRNA_exonic . 0.0133 0.0126 0.0121 -2.5 +2 179472223 TTN A G 3 0.00459265 2.046 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0166 nonsynonymous_SNV exonic D 0.0143 0.0139 0.0149 4.75 +2 179472292 TTN T A 3 0.0295527 1.552 . . . 0.0254 nonsynonymous_SNV exonic T 0.0204 0.0234 0.0228 3.5 +2 179472319 TTN C T 1 0.00119808 3.630 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0028 nonsynonymous_SNV exonic T 0.0030 0.0030 0.0018 8.5 +2 179472693 TTN A G 3 0.0305511 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0256 synonymous_SNV exonic . 0.0205 0.0235 0.0229 2.75 +2 179472825 na T C 14 0.0107827 . MedGen:CN169374 not_specified Benign 0.0247 . ncRNA_intronic . 0.0226 0.0225 0.0215 -2.5 +2 179473238 na C A 1 0.000199681 . . . . 0.0005 . ncRNA_intronic . . 0.0004 0.0003 0 +2 179473705 na G A 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 +2 179474075 TTN C T 1 0.000199681 3.675 . . . 1.511e-05 nonsynonymous_SNV exonic T . 1.806e-05 . 8.5 +2 179474466 TTN C T 3 0.0299521 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0255 synonymous_SNV exonic . 0.0204 0.0232 0.0229 2.75 +2 179474668 TTN G A 7 0.0726837 3.431 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 nonsynonymous_SNV exonic T 0.0131 0.0126 0.0117 4.75 +2 179474787 na T C 2 0.00599042 . . . . 0.0018 . ncRNA_intronic . 0.0019 0.0017 0.0017 0 +2 179477267 TTN T G 3 0.00638978 1.693 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0235 nonsynonymous_SNV exonic T 0.0198 0.0211 0.0208 4.75 +2 179477332 na ATT AT 55 . . . . . . . ncRNA_intronic . . . . 7 +2 179477435 na C T 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 +2 179477476 na T G 5 0.0361422 . . . . 0.0306 . ncRNA_intronic . 0.0219 0.0249 0.0249 -2.5 +2 179477529 TTN C G 2 0.00599042 2.501 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 +2 179477717 TTN A G 7 0.0736821 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0130 0.0126 0.0117 2.75 +2 179477802 na G A 1 0.000599042 . . . . 4.517e-05 . ncRNA_intronic . . 2.71e-05 . 0 +2 179478639 TTN T A 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0018 synonymous_SNV exonic . 0.0019 0.0017 0.0017 4.625 +2 179478829 TTN C T 1 0.000199681 3.307 . . . . nonsynonymous_SNV exonic D . . . 8.5 +2 179479118 na A AT 5 0.0365415 . . . . 0.0271 . ncRNA_exonic . 0.0227 0.0250 0.0248 -2.5 +2 179479245 TTN C T 7 0.072484 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0127 0.0126 0.0117 2.75 +2 179479741 na G A 4 0.0938498 . . . . 0.0293 . ncRNA_intronic . 0.0209 0.0237 0.0224 -2.5 +2 179482089 TTN C T 1 0.00299521 4.000 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0146 nonsynonymous_SNV exonic T 0.0088 0.0075 0.0069 6 +2 179482280 na G A 1 0.000199681 . . . . 3.423e-05 . ncRNA_intronic . . 1.431e-05 . 2.5 +2 179482309 na CAATT C 7 0.081869 . . . . . . ncRNA_intronic . . . 0.0120 -2.5 +2 179482533 TTN G T 2 0.00599042 1.986 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0016 0.0017 8.5 +2 179482852 na G A 1 0.000199681 . . . . 1.512e-05 . ncRNA_intronic\x3bncRNA_intronic . . 1.833e-05 . 2.5 +2 179482937 TTN C T 1 0.000599042 2.837 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0026 nonsynonymous_SNV exonic T 0.0023 0.0030 0.0027 8.5 +2 179482994 TTN G A 4 0.00139776 2.977 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0035 nonsynonymous_SNV exonic D 0.0029 0.0037 0.0037 9.5 +2 179483040 TTN C T 1 0.000199681 . . . . 1.501e-05 synonymous_SNV exonic . . 9.035e-06 . 6.5 +2 179484892 na T A 5 0.0363419 . . . . . . ncRNA_exonic\x3bncRNA_exonic . . . 0.0247 -2.5 +2 179485521 TTN A T 1 0.000199681 -1.228 . . . 1.5e-05 nonsynonymous_SNV exonic T . 9.049e-06 . 8.5 +2 179485599 TTN A G 5 0.0363419 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0271 synonymous_SNV exonic . 0.0224 0.0249 0.0248 2.75 +2 179485707 TTN G A 1 0.000199681 . . . . 3.016e-05 synonymous_SNV exonic . . 3.641e-05 . 6.5 +2 179486037 TTN C A 1 0.00219649 3.020 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 nonsynonymous_SNV exonic T 0.0086 0.0079 0.0070 8.5 +2 179486376 TTN C T 2 0.00339457 4.195 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 7.25 +2 179486478 MIR548N T C 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0122 . ncRNA_intronic . 0.0109 0.0122 0.0107 0 +2 179487314 MIR548N C CT 5 0.0391374 . . . . . . ncRNA_intronic . . . 0.0249 -2.5 +2 179495795 TTN C T 1 0.000199681 . . . . 1.503e-05 synonymous_SNV exonic . . 9.015e-06 . 6.5 +2 179497025 TTN A G 2 0.0395367 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0062 synonymous_SNV exonic . 0.0036 0.0034 0.0043 2.75 +2 179497133 TTN C T 3 0.00698882 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0346 synonymous_SNV exonic . 0.0290 0.0300 0.0430 2.75 +2 179498022 TTN G A 1 0.00119808 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0002 synonymous_SNV exonic . 0.0001 0.0002 6.67e-05 5.25 +2 179498042 TTN T C 25 0.0509185 2.465 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1043 nonsynonymous_SNV exonic T 0.1098 0.1075 0.1110 3.5 +2 179498303 TTN T C 4 0.109425 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0247 synonymous_SNV exonic . 0.0211 0.0241 0.0229 1.5 +2 179499038 MIR548N A G 4 0.109625 . . . . . . ncRNA_intronic . . . 0.0228 -2.5 +2 179499530 TTN T C 3 0.0305511 1.512 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0253 nonsynonymous_SNV exonic T 0.0205 0.0232 0.0229 4.75 +2 179500629 MIR548N C T 1 0.000199681 . . . . . . ncRNA_intronic . . . . 2.5 +2 179500777 TTN C T 1 0.000399361 2.678 Human_Phenotype_Ontology:HP:0003198,MedGen:C0026848|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Myopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0004 0.0007 0.0005 8.5 +2 179500790 TTN A G 5 0.0365415 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0270 synonymous_SNV exonic . 0.0220 0.0249 0.0247 2.75 +2 179501351 TTN G A 2 0.00119808 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0050 synonymous_SNV exonic . 0.0043 0.0044 0.0043 6.5 +2 179505896 MIR548N A G 5 0.0365415 . . . . . . ncRNA_intronic . . . 0.0247 -2.5 +2 179506911 MIR548N G A 2 0.00119808 . . . . 0.0016 . ncRNA_intronic . . 0.0010 0.0008 0 +2 179509245 MIR548N T C 3 0.00159744 . . . . 0.0019 . ncRNA_intronic . 0.0007 0.0009 0.0004 0 +2 179510833 MIR548N A T 4 0.10603 . . . . . . ncRNA_intronic . . . 0.0050 -2.5 +2 179513923 MIR548N A T 4 0.0934505 . . . . . . ncRNA_intronic . . . 0.0227 -2.5 +2 179513966 MIR548N G A 1 0.000199681 . . . . 0.0002 . ncRNA_intronic . . 7.869e-05 6.691e-05 2.5 +2 179514208 MIR548N G A 5 0.0327476 . . . . . . ncRNA_intronic . . . 0.0071 -2.5 +2 179514420 MIR548N G A 3 0.0305511 . . . . . . ncRNA_intronic . . . 0.0229 -2.5 +2 179514433 MIR548N T C 51 0.32488 . . . . . . ncRNA_intronic . . . 0.2015 -2.5 +2 179514479 MIR548N C T 2 0.00119808 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0049 0 +2 179514508 MIR548N A C 3 0.0305511 . . . . 0.0253 . ncRNA_intronic . 0.0195 0.0231 0.0229 -2.5 +2 179514941 TTN TTTTCCTCTTCAGGAGCAA T 5 0.033147 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0103 nonframeshift_deletion exonic . 0.0049 0.0065 0.0078 2.75 +2 179515437 MIR548N T G 3 0.0307508 . . . . 0.0321 . ncRNA_intronic . 0.0198 0.0220 0.0230 -2.5 +2 179515472 MIR548N G A 2 0.00159744 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0169 . ncRNA_intronic . 0.0091 0.0086 0.0096 -1.875 +2 179515475 MIR548N T C 1 0.000199681 . . . . 6.89e-05 . ncRNA_intronic . . 1.977e-05 . 2.5 +2 179515483 TTN G C 2 0.0393371 0.743 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0093 nonsynonymous_SNV exonic T 0.0034 0.0034 0.0043 4.75 +2 179516580 MIR548N G C 3 0.00838658 . . . . 0.0298 . ncRNA_intronic . 0.0231 0.0211 0.0218 -2.5 +2 179516690 TTN G A 1 0.000399361 . MedGen:CN169374 not_specified Likely_benign 3.651e-05 synonymous_SNV exonic . . 2.795e-05 . 6.5 +2 179517019 TTN A T 1 0.00279553 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0119 synonymous_SNV exonic . 0.0110 0.0121 0.0107 4 +2 179517105 MIR548N G A 1 0.000199681 . . . . 1.502e-05 . ncRNA_intronic\x3bncRNA_intronic . . 8.989e-06 . 2.5 +2 179517605 TTN G A 1 0.00638978 1.597 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0055 nonsynonymous_SNV exonic . 0.0068 0.0057 0.0059 6.625 +2 179517632 TTN G A 2 0.00259585 1.228 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic . 0.0003 0.0006 0.0007 8.5 +2 179517654 TTN T C 5 0.0365415 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0273 synonymous_SNV exonic . . 0.0250 0.0247 2.125 +2 179517725 MIR548N T G 1 0.000199681 . . . . 3.073e-05 . ncRNA_intronic\x3bncRNA_intronic . . 1.844e-05 . 2.5 +2 179518003 TTN A G 10 0.117013 -0.768 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0527 nonsynonymous_SNV exonic . . 0.0493 0.0473 4.125 +2 179518170 TTN T G 1 0.000199681 0.677 . . . . nonsynonymous_SNV exonic . . . . 8.5 +2 179518273 MIR548N G A 1 0.00159744 . . . . 0.0068 . ncRNA_intronic\x3bncRNA_intronic . . 0.0056 0.0114 -2.5 +2 179518854 MIR548N G A 2 0.00599042 . . . . 0.0018 . ncRNA_intronic\x3bncRNA_intronic . . 0.0016 0.0017 0 +2 179518911 MIR548N TAGC T 42 0.109425 . . . . 0.1924 . ncRNA_intronic\x3bncRNA_intronic . . 0.1952 0.1997 -2.5 +2 179519086 MIR548N A T 1 0.0413339 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0047 -2.5 +2 179519330 MIR548N C A 11 0.103035 . . . . . . ncRNA_intronic . . . 0.0168 -2.5 +2 179519351 MIR548N T C 11 0.102436 . . . . . . ncRNA_intronic . . . 0.0144 -2.5 +2 179522337 MIR548N G A 5 0.136581 . . . . 0.0010 . ncRNA_intronic\x3bncRNA_intronic . . 0.0048 0.0086 -2.5 +2 179522377 MIR548N T C 1 0.000199681 . . . . 0 . ncRNA_intronic\x3bncRNA_intronic . . 0 . 2.5 +2 179522513 MIR548N T C 1 0.000199681 . . . . 0 . ncRNA_intronic\x3bncRNA_intronic . . 0 . 2.5 +2 179522795 MIR548N A G 1 0.000199681 . . . . 3.285e-05 . ncRNA_intronic . . 1.927e-05 . 2.5 +2 179523368 MIR548N G A 51 0.0680911 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.1863 -2.5 +2 179527095 TTN G A 4 0.0091853 0.568 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0267 nonsynonymous_SNV exonic . . 0.0262 0.0182 4.125 +2 179527475 TTN C T 5 0.0329473 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 0.0222 synonymous_SNV exonic . . 0.0105 0.0062 2.75 +2 179528068 TTN C A 2 0.057508 1.906 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0062 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0045 0.0042 0.0047 2.125 +2 179528335 MIR548N T C 4 0.0698882 . . . . 0.0245 . ncRNA_intronic\x3bncRNA_intronic . 0.0221 0.0237 0.0226 -2.5 +2 179528378 TTN C T 14 0.259185 2.900 MedGen:CN169374 not_specified Benign 0.0632 nonsynonymous_SNV exonic T 0.0560 0.0595 0.0572 3.5 +2 179529273 MIR548N A G 5 0.0367412 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Benign 0.0273 . ncRNA_intronic . 0.0218 0.0253 0.0247 -1.875 +2 179529497 MIR548N T G 5 0.0369409 . . . . 0.0277 . ncRNA_intronic\x3bncRNA_intronic . 0.0216 0.0252 0.0247 -2.5 +2 179529584 TTN A T 1 0.000199681 2.012 . . . 1.797e-05 nonsynonymous_SNV exonic T . 9.829e-06 . 8.5 +2 179531693 MIR548N A G 3 0.0309505 . . . . . . ncRNA_intronic . . . 0.0231 -2.5 +2 179534224 MIR548N C T 1 0.000399361 . . . . 8.9e-05 . ncRNA_intronic\x3bncRNA_intronic . . 0.0002 0.0001 2.5 +2 179534225 MIR548N G A 3 0.00838658 . . . . . . ncRNA_intronic\x3bncRNA_intronic . . . 0.0220 -2.5 +2 179535068 MIR548N T C 1 0.000199681 . . . . 0.0001 . ncRNA_intronic . . 3.186e-05 . 2.5 +2 179537200 TTN C T 1 0.000998403 2.829 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0060 nonsynonymous_SNV exonic T 0.0036 0.0059 0.0041 8.5 +2 179538492 MIR548N C T 1 0.000798722 . . . . . . ncRNA_intronic . 0.0016 . 0.0054 0 +2 179539803 TTN G A 1 0.000199681 . . . . 1.544e-05 synonymous_SNV exonic . . 1.022e-05 . 6.5 +2 179539812 TTN T G 2 0.00599042 1.654 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0018 0.0017 0.0017 8.5 +2 179539903 MIR548N C A 54 0.471246 . . . . . . ncRNA_intronic . 0.2126 . 0.2194 0.5 +2 179540461 TTN G T 3 0.00159744 2.531 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0222 nonsynonymous_SNV exonic . . 0.0058 0.0036 4.125 +2 179541899 TTN C G 148 0.773363 . . . . 0.7155 . intronic . . 0.7180 0.7498 1.5 +2 179542046 TTN A G 1 0.000199681 . . . . 0.0012 . intronic . . 0.0002 . 4 +2 179542068 TTN T C 4 0.0666933 . . . . . . intronic . . . 0.0004 1.5 +2 179542674 TTN C T 1 0.00419329 . . . . 0.0094 . intronic . 0.0094 0.0102 0.0101 1.5 +2 179543217 TTN C T 40 0.238419 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2297 synonymous_SNV exonic . 0.1604 0.1558 0.1636 4.5 +2 179543382 TTN T G 1 0.000199681 . . . . . . intronic . . . 0.0003 6.5 +2 179543399 TTN C T 2 0.00599042 . . . . . . intronic . . . 0.0017 4 +2 179544427 TTN A G 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0020 . intronic . 0.0017 0.0017 0.0017 4 +2 179544701 TTN A G 1 0.000199681 0.576 . . . 1.502e-05 nonsynonymous_SNV exonic T . 8.992e-06 . 8.5 +2 179544983 TTN C G 1 0.00159744 1.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign 0.0022 nonsynonymous_SNV exonic T 0.0033 0.0025 0.0019 7.25 +2 179545107 TTN C T 1 0.000399361 . . . . 0.0001 . intronic . 0.0002 0.0002 0.0003 6.5 +2 179545177 TTN C T 1 0.00199681 . . . . . . intronic . . . 0.0012 4 +2 179545859 TTN C T 49 0.125998 2.302 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3005 nonsynonymous_SNV exonic T 0.3031 0.3030 0.3243 3.5 +2 179547455 TTN T C 3 0.00459265 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0081 synonymous_SNV exonic . 0.0086 0.0090 0.0085 5.25 +2 179547465 TTN C T 2 0.00139776 1.213 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T 0.0011 0.0010 0.0012 8.5 +2 179547860 TTN A G 45 0.284944 . . . . . . intronic . . . 0.1732 1.5 +2 179548633 TTN C CT 2 0.00599042 . . . . . . intronic . . . 0.0018 4 +2 179548704 TTN T C 1 0.000798722 . . . . 0.0031 . intronic . 0.0022 0.0031 0.0030 4 +2 179549048 TTN C T 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0124 . intronic . 0.0111 0.0121 0.0107 2.125 +2 179549131 TTN C T 6 0.00539137 2.951 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0176 nonsynonymous_SNV exonic T 0.0180 0.0168 0.0168 4.75 +2 179549407 TTN G A 4 0.00179712 2.586 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0077 nonsynonymous_SNV exonic T 0.0059 0.0066 0.0061 9.5 +2 179549474 TTN G A 1 0.000199681 2.695 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0004 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0004 11 +2 179549500 TTN A G 2 0.00599042 . . . . 0.0018 . intronic . 0.0020 0.0017 0.0018 4 +2 179549608 TTN G GA 2 0.00599042 . . . . 0.0023 . intronic . 0.0022 0.0016 0.0017 4 +2 179549707 TTN G A 1 0.000798722 2.765 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Likely_benign 0.0042 nonsynonymous_SNV exonic T 0.0021 0.0028 0.0022 7.25 +2 179550069 TTN T C 5 0.0329473 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0102 . intronic . 0.0089 0.0093 0.0072 1.5 +2 179550302 TTN C T 1 0.000199681 2.215 . . . 0 nonsynonymous_SNV exonic T . 0 . 8.5 +2 179550393 TTN T G 2 0.00599042 . . . . . . intronic . . . 0.0017 4 +2 179553542 TTN G T 6 0.00539137 . . . . 0.0182 . intronic . 0.0187 0.0174 0.0171 1.5 +2 179553566 TTN A G 5 0.00658946 . . . . . . intronic . . . 0.0062 5 +2 179553730 TTN ATTTTTTTT A 7 0.110423 . . . . 0.0008 . intronic . . . . 1.5 +2 179553781 TTN T C 1 0.00139776 . . . . . synonymous_SNV exonic . . . . 4 +2 179553787 TTN A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 +2 179553790 TTN A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 +2 179553793 TTN A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 +2 179553917 TTN G A 14 0.261581 . . . . . . intronic . 0.0550 . 0.0570 1.5 +2 179554305 TTN C T 63 0.413339 4.097 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.3697 nonsynonymous_SNV exonic T 0.3605 0.3561 0.3821 3.5 +2 179554549 TTN G C 1 0.000599042 1.700 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0003 8.5 +2 179558282 TTN T A 50 0.322284 . . . . . . intronic . . . 0.1965 4.5 +2 179558366 TTN T C 55 0.477835 1.533 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2457 nonsynonymous_SNV exonic T 0.2286 0.2271 0.2289 3.5 +2 179563622 TTN C T 2 0.00339457 . . . . . synonymous_SNV exonic . . 0 . 4 +2 179563702 TTN C T 8 0.00938498 . . . . . . intronic . . . 0.0253 1.5 +2 179566398 TTN C G 2 0.00599042 . . . . . . intronic . . . 0.0018 4 +2 179566802 TTN T TA 6 0.130192 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Benign/Likely_benign 0.0432 . intronic . 0.0286 0.0395 0.0274 1.5 +2 179567230 TTN A G 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0017 synonymous_SNV exonic . 0.0019 0.0016 0.0017 6.5 +2 179567340 TTN G A 1 0.00119808 2.770 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Primary_dilated_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0053 nonsynonymous_SNV exonic T 0.0041 0.0054 0.0109 8.5 +2 179567431 TTN A C 1 0.00539137 . . . . 0.0031 . intronic . 0.0035 0.0030 0.0019 4 +2 179569147 TTN T C 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0027 . intronic . 0.0032 0.0026 0.0025 4 +2 179569387 TTN T A 10 0.0105831 2.427 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0259 nonsynonymous_SNV exonic T 0.0266 0.0255 0.0296 4.75 +2 179569400 TTN C T 5 0.0842652 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0295 synonymous_SNV exonic . 0.0243 0.0255 0.0258 1.5 +2 179569436 TTN A G 5 0.096845 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0304 synonymous_SNV exonic . 0.0248 0.0259 0.0262 1.5 +2 179569583 TTN T A 2 0.00599042 . . . . 0.0017 . intronic . 0.0018 0.0017 0.0017 4 +2 179569705 TTN A G 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0017 . intronic . 0.0018 0.0016 0.0017 4 +2 179570114 TTN A T 5 0.0866613 . . . . 0.0342 . intronic . 0.0227 0.0253 0.0260 1.5 +2 179570122 TTN C A 3 0.0513179 . . . . 0.0278 . intronic . 0.0195 0.0231 0.0236 1.5 +2 179571448 TTN A G 5 0.127396 2.835 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0280 nonsynonymous_SNV exonic T 0.0261 0.0270 0.0260 3.5 +2 179571697 TTN C T 5 0.0942492 . MedGen:CN169374 not_specified Benign 0.0370 . intronic . 0.0239 0.0261 0.025 1.5 +2 179572222 TTN G T 2 0.00898562 . . . . 1.742e-05 . intronic . . 5.78e-05 0 4 +2 179572445 TTN C T 1 0.000199681 3.339 MedGen:CN169374 not_specified Uncertain_significance 7.499e-05 nonsynonymous_SNV exonic T . 8.961e-05 0.0001 8.5 +2 179574384 TTN C T 5 0.0752796 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0289 synonymous_SNV exonic . 0.0237 0.0259 0.0255 2.75 +2 179575295 TTN C T 1 0.000199681 . . . . . . intronic . . . 0.0011 4 +2 179575511 TTN C T 11 0.0273562 3.915 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0518 nonsynonymous_SNV exonic T 0.0570 0.0552 0.0558 4.75 +2 179575949 TTN G T 28 0.0740815 . MedGen:CN230736 Cardiovascular_phenotype Likely_benign 0.0002 synonymous_SNV exonic . . 0.0002 . 1.5 +2 179576855 TTN A G 1 0.000998403 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0008 synonymous_SNV exonic . 0.0009 0.0009 0.0005 6.5 +2 179577736 TTN G A 2 0.00599042 . . . . 0.0018 . intronic . 0.0020 0.0016 0.0017 4 +2 179577998 TTN T C 1 0.00219649 1.184 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0005 0.0011 0.0022 8.5 +2 179578108 TTN T TACAAA,TACAAAACAAA 1 0.0211661 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0007 . intronic . 0.0499 0.0013 0.0024 2.75 +2 179578159 TTN A G 2 0.00359425 . . . . . . intronic . . . 0.0154 1.5 +2 179578703 TTN C T 3 0.00459265 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0039 synonymous_SNV exonic . 0.0034 0.0034 0.0046 6.5 +2 179578704 TTN G A 5 0.111422 2.101 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0277 nonsynonymous_SNV exonic T 0.0256 0.0265 0.0254 3.5 +2 179578730 TTN G A 50 0.444688 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2023 synonymous_SNV exonic . 0.2012 0.2022 0.2036 1.5 +2 179578937 TTN A G 5 0.0804712 . . . . 0.0292 . intronic . 0.0238 0.0262 0.0259 1.5 +2 179579093 TTN T C 40 0.247005 -0.712 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1458 nonsynonymous_SNV exonic T 0.1506 0.1501 0.1514 6.5 +2 179579212 TTN T C 50 0.483427 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2041 synonymous_SNV exonic . 0.2019 0.2031 0.2030 4.5 +2 179579366 TTN G A 5 0.0800719 . . . . . . intronic . . . 0.0259 1.5 +2 179579694 TTN T A 5 0.0754792 . MedGen:CN169374 not_specified Benign 0.0293 . intronic . 0.0237 0.0260 0.0258 1.5 +2 179579822 TTN T A 50 0.444489 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2020 synonymous_SNV exonic . 0.2005 0.2025 0.2030 4.5 +2 179579977 TTN G A 8 0.00938498 3.568 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0207 nonsynonymous_SNV exonic T 0.0223 0.0211 0.0256 6 +2 179580171 TTN T C 1 0.000199681 . . . . 1.543e-05 . intronic . . 1.039e-05 . 6.5 +2 179580210 TTN G A 5 0.111422 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0278 . intronic . 0.0251 0.0263 0.0254 1.5 +2 179580434 TTN A G 3 0.0507188 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0395 synonymous_SNV exonic . 0.0215 0.024 0.0236 1.5 +2 179580525 TTN C T 5 0.111422 . . . . 0.0357 . intronic . 0.0246 0.0256 0.0254 1.5 +2 179581835 TTN C A 3 0.0513179 0.191 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0268 nonsynonymous_SNV exonic T 0.0214 0.0237 0.0236 4.75 +2 179581933 TTN T G 7 0.028754 1.592 . . . . nonsynonymous_SNV exonic T . 0 . 3.5 +2 179581971 TTN C T 2 0.00599042 2.691 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 +2 179582063 TTN A T 2 0.028754 0.979 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0027 0.0022 0.0023 4.75 +2 179582162 TTN C T 40 0.24401 . . . . . . intronic . . . 0.1515 4.5 +2 179582166 TTN G A 1 0.000199681 . . . . . . intronic . . . 0.0002 6.5 +2 179582327 TTN C T 40 0.24381 1.700 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1461 nonsynonymous_SNV exonic T 0.1508 0.1496 0.1515 6.5 +2 179582537 TTN G T 50 0.444888 2.566 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2037 nonsynonymous_SNV exonic T 0.2018 0.2023 0.2029 6.5 +2 179582605 TTN A G 42 0.279153 . . . . . . intronic\x3bintronic . . . 0.1546 4.5 +2 179582760 TTN T C 1 0.00159744 1.518 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0093 nonsynonymous_SNV exonic T 0.0076 0.0089 0.0069 6.625 +2 179582824 TTN C T 3 0.0235623 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0109 synonymous_SNV exonic . 0.0069 0.0099 0.0077 2.75 +2 179582853 TTN T C 5 0.0121805 1.513 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0297 nonsynonymous_SNV exonic T 0.0308 0.0299 0.0260 4.75 +2 179583317 TTN G A 23 0.0734824 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1051 synonymous_SNV exonic . 0.1101 0.1091 0.1114 1.5 +2 179583326 TTN T G 1 0.00499201 1.396 . . . . nonsynonymous_SNV exonic T . . . 6 +2 179583398 TTN T C 42 0.271565 . . . . 0.1487 . intronic . 0.1537 0.1523 0.1545 4.5 +2 179583496 TTN T G 40 0.238818 0.820 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1454 nonsynonymous_SNV exonic T 0.1517 0.1501 0.1519 3.5 +2 179583966 TTN C T 1 0.000199681 3.412 . . . . nonsynonymous_SNV exonic D . 1.802e-05 6.671e-05 8.5 +2 179583967 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0018 synonymous_SNV exonic . 0.0019 0.0017 0.0017 6.5 +2 179584152 TTN G A 1 0.000399361 3.575 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 4.514e-05 nonsynonymous_SNV exonic D 0.0001 8.994e-05 6.669e-05 11 +2 179584366 TTN G T 1 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0023 synonymous_SNV exonic . 0.0033 0.0025 0.0019 5.25 +2 179584831 TTN G C 2 0.00599042 0.555 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0020 0.0017 0.0017 8.5 +2 179585257 TTN G C 2 0.00499201 1.967 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0025 nonsynonymous_SNV exonic T 0.0021 0.0021 0.0016 7.25 +2 179585266 TTN C T 214 0.982029 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 1.5 +2 179585393 TTN A G 50 0.460064 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2124 . intronic . 0.1985 0.2036 0.2028 4.5 +2 179585963 TTN A G 3 0.0513179 . . . . 0.0350 . intronic . 0.0210 0.0250 0.0236 1.5 +2 179586604 TTN C G 8 0.0201677 2.558 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0360 nonsynonymous_SNV exonic T 0.0386 0.0368 0.0401 4.75 +2 179586901 TTN G GT 2 0.00758786 . . . . 0.0199 . intronic . 0.0223 0.0199 0.0246 1.5 +2 179587130 TTN C G 40 0.247005 2.840 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1457 nonsynonymous_SNV exonic T 0.1523 0.1500 0.1519 6.5 +2 179587546 TTN A G 5 0.0940495 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0270 synonymous_SNV exonic . 0.0242 0.0264 0.0253 1.5 +2 179587552 TTN T C 3 0.00279553 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0116 synonymous_SNV exonic . 0.0118 0.0118 0.0089 2.125 +2 179587670 TTN G A 1 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 0.0003 . intronic . 0.0001 0.0001 . 5.25 +2 179587687 TTN T C 50 0.48722 . . . . 0.2055 . intronic . 0.2016 0.2033 0.2037 4.5 +2 179588535 TTN G A 3 0.00199681 . . . . 0.0048 . intronic . 0.0055 0.0054 0.0089 4 +2 179588908 TTN A C 1 0.00219649 . . . . 0.0014 . intronic . 0.0005 0.0011 0.0022 4 +2 179589058 TTN G A 2 0.0357428 2.818 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0040 nonsynonymous_SNV exonic T 0.0031 0.0029 0.0041 4.75 +2 179589217 TTN C T 1 0.000199681 3.330 . . . 1.511e-05 nonsynonymous_SNV exonic D . 9.036e-06 . 8.5 +2 179589241 TTN G A 3 0.0515176 3.167 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0198 nonsynonymous_SNV exonic T 0.0190 0.0195 0.0199 3.5 +2 179589260 TTN C T 1 0.000199681 3.991 . . . 1.574e-05 nonsynonymous_SNV exonic T . 2.867e-05 6.669e-05 8.5 +2 179590133 TTN C G 2 0.000599042 2.435 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0008 0.0010 0.0007 8.5 +2 179590329 TTN C T 3 0.00658946 3.112 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0163 nonsynonymous_SNV exonic D 0.0173 0.0179 0.0154 4.125 +2 179591757 TTN T C 1 0.000399361 . . . . . . intronic . . . . 6.5 +2 179591917 TTN T C 2 0.00599042 -1.660 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 +2 179592161 TTN A G 3 0.0513179 . . . . . . intronic . . . 0.0235 1.5 +2 179593270 TTN A G 1 0.00219649 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0115 synonymous_SNV exonic . 0.0104 0.0114 0.0101 4 +2 179593352 TTN C T 5 0.0932508 1.515 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0275 nonsynonymous_SNV exonic T 0.0246 0.0266 0.0253 3.5 +2 179593862 TTN G A 1 0.0241613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0067 synonymous_SNV exonic . 0.0065 0.0064 0.0065 2.75 +2 179594059 TTN T C 2 0.00599042 0.545 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 8.5 +2 179594653 TTN C A 1 0.000199681 3.147 . . . 1.635e-05 nonsynonymous_SNV exonic T . 9.07e-06 . 8.5 +2 179595117 TTN C G 46 0.348043 . MedGen:CN169374 not_specified Benign 0.1836 . intronic . 0.1789 0.1770 0.1788 4.5 +2 179595372 TTN T C 1 0.00219649 1.928 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0112 nonsynonymous_SNV exonic T 0.0104 0.0115 0.0101 6 +2 179595577 TTN GT GTT,G 1 0.109225 . . . . . . intronic . . . 0.0278 1.5 +2 179595588 TTN TA T 2 0.00858626 . . . . . . intronic\x3bintronic . . . 0.0202 1.5 +2 179595589 TTN A T 3 0.0205671 . . . . . . intronic\x3bintronic . . . 0.0004 1.5 +2 179596554 TTN T C 1 0.00199681 -1.446 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0086 nonsynonymous_SNV exonic T 0.0072 0.0081 0.0063 8.5 +2 179597242 TTN C A 1 0.000399361 1.791 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic D 0.0013 0.0009 0.0007 8.5 +2 179597273 TTN A G 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 synonymous_SNV exonic . 0.0002 0.0001 0.0001 9 +2 179597600 TTN C T 1 0.00359425 2.783 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0080 nonsynonymous_SNV exonic T 0.0091 0.0085 0.0094 8.5 +2 179598228 TTN A G 26 0.0295527 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0786 synonymous_SNV exonic . 0.0792 0.0797 0.0776 1.5 +2 179599355 TTN G C 2 0.00599042 . . . . 0.0019 . intronic . 0.0020 0.0018 0.0017 4 +2 179599473 TTN C G 2 0.00339457 1.514 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0039 nonsynonymous_SNV exonic T 0.0038 0.0037 0.0037 8.5 +2 179599667 TTN G C 1 0.00439297 1.674 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0130 nonsynonymous_SNV exonic T 0.0090 0.0092 0.0107 4.75 +2 179600303 TTN G C 1 0.00179712 1.289 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0043 nonsynonymous_SNV exonic T 0.0035 0.0032 0.0037 8.5 +2 179600563 TTN G A 214 0.981829 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9999 0.9996 0.9999 1.5 +2 179600648 TTN C T 7 0.144768 0.315 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0500 nonsynonymous_SNV exonic T 0.0479 0.0473 0.0471 3.5 +2 179603837 TTN C T 2 0.00599042 . . . . 0.0019 . intronic . 0.0019 0.0018 0.0017 4 +2 179604101 TTN C T 2 0.00599042 2.576 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0018 nonsynonymous_SNV exonic T 0.0019 0.0017 0.0017 7.25 +2 179604160 TTN T G 5 0.076278 -1.298 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 nonsynonymous_SNV exonic T 0.0431 0.0444 0.0441 3.5 +2 179604366 TTN T G 5 0.0760783 -0.781 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 nonsynonymous_SNV exonic T 0.0435 0.0445 0.0440 3.5 +2 179604440 TTN A G 1 0.000399361 -1.764 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 9.92e-05 . 8.5 +2 179604742 TTN G A 5 0.0766773 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0433 0.0444 0.0441 1.5 +2 179604871 TTN G A 1 0.000599042 . . . . 1.501e-05 synonymous_SNV exonic . . 9.004e-06 . 4 +2 179605180 TTN C A,T 1 0.238818 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.1283 synonymous_SNV exonic . 0.1283 0.1301 0.1324 4.5 +2 179605380 TTN T A 1 0.00299521 -0.005 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0057 nonsynonymous_SNV exonic T 0.0067 0.0059 0.0044 6.625 +2 179605705 TTN A G 5 0.0760783 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0459 synonymous_SNV exonic . 0.0437 0.0444 0.0442 1.5 +2 179605725 TTN T C 9 0.0161741 -1.264 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0184 nonsynonymous_SNV exonic T 0.0185 0.0195 0.0161 4.125 +2 179605755 TTN G C 1 0.000199681 0.306 . . . . nonsynonymous_SNV exonic T . . . 8.5 +2 179605991 TTN G A 3 0.00279553 1.510 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0116 nonsynonymous_SNV exonic T 0.0118 0.0118 0.0087 4.125 +2 179606172 TTN C T 2 0.000798722 0.926 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0003 6 +2 179606538 TTN G A 12 0.273163 1.979 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.0854 nonsynonymous_SNV exonic T 0.0732 0.0740 0.0723 3.5 +2 179606590 TTN T C 2 0.000599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0010 0.0008 0.0007 5.25 +2 179610967 TTN C T 2 0.00119808 1.745 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0044 nonsynonymous_SNV exonic T 0.0041 0.0045 0.0041 6 +2 179611279 TTN G A 1 0.000199681 1.499 . . . 1.505e-05 nonsynonymous_SNV exonic T . 9.032e-06 . 8.5 +2 179611552 TTN C T 1 0.000199681 1.711 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance 0.0004 nonsynonymous_SNV exonic T 0.0005 0.0004 0.0005 6 +2 179611711 TTN C A 5 0.0772764 0.758 MedGen:CN169374 not_specified Benign 0.0459 nonsynonymous_SNV exonic T 0.0433 0.0444 0.0441 3.5 +2 179611847 TTN T G 1 0.000998403 . MedGen:CN169374 not_specified Likely_benign 0.0002 synonymous_SNV exonic . 0.0002 0.0002 0.0004 4 +2 179611851 TTN C T 1 0.0399361 . MedGen:CN169374 not_specified Benign 0.0005 synonymous_SNV exonic . 0.0007 0.0003 0.0010 1.5 +2 179611875 TTN A G 1 0.0397364 . MedGen:CN169374 not_specified Benign 0.0002 synonymous_SNV exonic . 0.0007 0.0001 0.0010 1.5 +2 179612373 TTN A C 1 0.00579073 . MedGen:CN169374 not_specified Benign 0.0032 synonymous_SNV exonic . 0.0037 0.0032 0.0023 4 +2 179612383 TTN C T 17 0.0145767 1.322 MedGen:CN169374 not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0582 0.0580 0.0492 3.5 +2 179612511 TTN G A 1 0.000399361 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 synonymous_SNV exonic . 0.0003 0.0006 0.0005 4 +2 179612635 TTN C T 2 0.00599042 0.214 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN517202 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|not_provided Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0022 0.0019 0.0019 7.25 +2 179612883 TTN A G 2 0.00339457 . MedGen:CN169374 not_specified Benign 0.0111 synonymous_SNV exonic . 0.0128 0.0125 0.0111 1.5 +2 179613049 TTN A G 1 0.000399361 0.341 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0008 nonsynonymous_SNV exonic T 0.0013 0.0009 0.0005 6 +2 179613191 TTN T C 1 0.00259585 0.041 MedGen:CN169374 not_specified Benign 0.0107 nonsynonymous_SNV exonic T 0.0093 0.0085 0.0068 3.5 +2 179613651 TTN G A 7 0.0109824 . MedGen:CN169374 not_specified Benign 0.0288 synonymous_SNV exonic . 0.0356 0.0331 0.0291 1.5 +2 179613763 TTN T C 1 0.000798722 0.715 Human_Phenotype_Ontology:HP:0001279,MedGen:C0039070|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Syncope|Hypertrophic_cardiomyopathy|not_specified Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0001 0.0005 0.0005 6 +2 179614952 TTN A G 214 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 1.5 +2 179615318 TTN T G 1 0.000399361 0.356 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0001 . 8.5 +2 179615321 TTN G T 1 0.000199681 . MedGen:CN169374 not_specified Benign 0.0002 synonymous_SNV exonic . 0.0002 0.0002 0.0001 6.5 +2 179615887 TTN T C 202 0.733027 0.654 MedGen:CN169374 not_specified Benign 0.9251 nonsynonymous_SNV exonic T 0.9303 0.9291 0.9301 3.5 +2 179615931 TTN C G 214 0.97504 0.163 MedGen:CN169374 not_specified Benign 0.9997 nonsynonymous_SNV exonic T 0.9992 0.9998 0.9999 3.5 +2 179615994 TTN T C 214 0.97504 . MedGen:CN169374 not_specified Benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9998 1.5 +2 179616210 TTN G A 1 0.000998403 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0017 0.0015 0.0019 4 +2 179616481 TTN C T 1 0.000399361 1.324 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0005 0.0002 0.0001 6 +2 179616770 TTN GAAA GAAAA,GAA,GA,G 1 0.00179712 . . . . 0.0046 . intronic . . 0.0017 8.151e-05 4 +2 179618019 TTN T A 202 0.804513 . . . . . . intronic . . . 0.9312 1.5 +2 179620951 TTN C T 202 0.804513 3.252 MedGen:CN169374 not_specified Benign 0.9274 nonsynonymous_SNV exonic T 0.9321 0.9303 0.9314 3.5 +2 179621184 TTN G A 5 0.00519169 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0164 synonymous_SNV exonic . 0.0146 0.0165 0.0154 2.125 +2 179621477 TTN C T 214 0.999002 . MedGen:CN169374 not_specified Benign/Likely_benign 1 nonsynonymous_SNV exonic . 1 1.0000 1 3.5 +2 179621503 TTN C T 6 0.00638978 2.386 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified Benign 0.0201 nonsynonymous_SNV exonic T 0.0176 0.0202 0.0186 4.125 +2 179623758 TTN C T 202 0.808906 1.814 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9274 nonsynonymous_SNV exonic T 0.9324 0.9303 0.9313 3.5 +2 179623772 TTN G A 2 0.00259585 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0072 synonymous_SNV exonic . 0.0087 0.0085 0.0071 5.25 +2 179623939 TTN T C 214 0.998403 . . . . 1.0000 . intronic . 1 1.0000 1 1.5 +2 179628918 TTN C T 2 0.00379393 3.746 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0148 nonsynonymous_SNV exonic T 0.0164 0.0155 0.0153 4.125 +2 179629363 TTN T C 214 0.973642 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9997 synonymous_SNV exonic . 0.9992 0.9998 0.9999 1.5 +2 179629461 TTN C T 202 0.804912 2.855 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9273 nonsynonymous_SNV exonic T 0.9322 0.9303 0.9314 3.5 +2 179631091 TTN A T 2 0.000798722 . MedGen:CN169374 not_specified Benign 0.0013 . intronic . 0.0015 0.0014 0.0010 4 +2 179631214 TTN T C 11 0.167732 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0720 synonymous_SNV exonic . 0.0667 0.0690 0.0684 1.5 +2 179631357 TTN TA T 1 0.00199681 . MedGen:CN169374 not_specified Benign 0.0003 . intronic . . 0.0002 0.0003 4 +2 179631362 TTN A C 15 0.145367 . . . . 0.0759 . intronic . . 0.0742 0.0749 1.5 +2 179631364 TTN AC A 4 0.0846645 . . . . 0.0263 . intronic . 0.0223 0.0250 0.0241 1.5 +2 179632496 TTN T C 5 0.0860623 1.376 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 nonsynonymous_SNV exonic T 0.0212 0.0233 0.0225 3.5 +2 179632598 TTN C T 1 0.00159744 4.072 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0054 nonsynonymous_SNV exonic T 0.0044 0.0055 0.0112 6 +2 179632710 TTN T C 165 0.503994 . . . . 0.7975 . intronic\x3bintronic . 0.7988 0.7994 0.7977 1.5 +2 179633644 TTN G C 5 0.0866613 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0243 synonymous_SNV exonic . 0.0215 0.0233 0.0225 1.5 +2 179634389 TTN TA T 214 0.996605 . . . . 0.0424 . intronic . . 0.0242 0.1262 1.5 +2 179634391 TTN TA T 214 0.996605 . MedGen:CN169374 not_specified Benign 0.0395 . intronic . . 0.0242 0.1261 1.5 +2 179634421 TTN T G 42 0.215455 2.313 MedGen:CN169374 not_specified Benign 0.3398 nonsynonymous_SNV exonic D . 0.2334 0.0115 3.5 +2 179634936 TTN C T 6 0.08127 2.325 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0476 nonsynonymous_SNV exonic T 0.0451 0.0455 0.0457 3.5 +2 179634961 TTN C A 1 0.00758786 2.904 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Benign 0.0212 nonsynonymous_SNV exonic T 0.0220 0.0222 0.0231 4.125 +2 179635882 TTN C T 214 0.967851 . . . . . . intronic . . . 0.9996 1.5 +2 179635888 TTN C T 1 0.000199681 . . . . 3.009e-05 . intronic . . 0.0001 6.669e-05 6.5 +2 179635919 TTN C T 11 0.0155751 . MedGen:CN169374 not_specified Benign 0.0360 . intronic . 0.0377 0.0369 0.0349 1.5 +2 179636257 TTN T A 6 0.0814696 . . . . . . intronic . . . 0.0455 1.5 +2 179637861 TTN C G 5 0.0754792 1.057 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0458 nonsynonymous_SNV exonic T 0.0433 0.0442 0.0442 3.5 +2 179638238 TTN G A 22 0.0754792 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.1080 synonymous_SNV exonic . 0.1147 0.1125 0.1134 1.5 +2 179638246 TTN C G 2 0.000399361 1.644 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.983e-06 . 8.5 +2 179638721 TTN C T 5 0.0874601 2.444 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0248 nonsynonymous_SNV exonic T 0.0221 0.0234 0.0225 3.5 +2 179640152 TTN C T 1 0.000199681 2.105 . . . 1.5e-05 nonsynonymous_SNV exonic D . 8.983e-06 . 8.5 +2 179641112 TTN C A 2 0.000798722 2.291 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352|MedGen:CN517202 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive|not_provided Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0015 0.0013 0.0010 8.5 +2 179641336 TTN C T 1 0.000199681 3.253 MedGen:CN169374 not_specified Likely_benign 4.499e-05 nonsynonymous_SNV exonic T . 8.996e-06 6.663e-05 8.5 +2 179641802 LOC101927055 A G 1 0.00579073 . . . . 0.0019 . ncRNA_exonic . 0.0020 0.0013 0.0015 0 +2 179641975 TTN C T 5 0.0752796 2.306 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0456 nonsynonymous_SNV exonic T 0.0430 0.0442 0.0440 3.5 +2 179642425 LOC101927055 G A 212 0.911542 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9890 . ncRNA_exonic . 0.9914 0.9898 0.9889 -2.5 +2 179642589 TTN C G,T 212 0.000399361 4.476 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Uncertain_significance 3.004e-05 nonsynonymous_SNV exonic T . 5.395e-05 0 10.5 +2 179643775 TTN C T 1 0.00379393 3.042 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0096 nonsynonymous_SNV exonic T 0.0073 0.0084 0.0162 4.75 +2 179643886 LOC101927055 A G 212 0.919928 . . . . 0.9891 . ncRNA_intronic . 0.9913 0.9899 0.9889 -2.5 +2 179643934 LOC101927055 A G 212 0.920128 . . . . 0.9891 . ncRNA_intronic . 0.9916 0.9899 0.9889 -2.5 +2 179644035 TTN G A 212 0.920128 2.581 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.9890 nonsynonymous_SNV exonic T 0.9914 0.9898 0.9889 3.5 +2 179644160 TTN T C 5 0.0756789 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0563 synonymous_SNV exonic . 0.0422 0.0441 0.0441 1.5 +2 179644848 TTN C G 1 0.000199681 1.775 MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0002 6.666e-05 8.5 +2 179644855 TTN T C 188 0.5002 2.524 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.8655 nonsynonymous_SNV exonic T 0.8702 0.8685 0.8651 3.5 +2 179647546 TTN A G 8 0.0776757 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0500 synonymous_SNV exonic . 0.0476 0.0483 0.0520 1.5 +2 179647823 TTN C T 2 0.0828674 . . . . 0.0114 . intronic . 0.0090 0.0102 0.0109 1.5 +2 179647824 TTN G A 6 0.0181709 . . . . 0.0336 . intronic . 0.0362 0.0344 0.0353 1.5 +2 179648778 TTN C A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0004 . intronic . 0.0006 0.0004 0.0002 4 +2 179649134 TTN C A 1 0.000199681 . . . . . . intronic . . . 0 6.5 +2 179650408 TTN G A 56 0.100439 2.681 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.2383 nonsynonymous_SNV exonic T 0.2345 0.2369 0.2096 3.5 +2 179650701 TTN C T 81 0.204673 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.4010 synonymous_SNV exonic . 0.4057 0.4034 0.4251 1.5 +2 179650932 TTN G A 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 +2 179654032 TTN T G 2 0.00439297 . . . . . . intronic . . . 0.0134 1.5 +2 179654121 TTN G T 16 0.0644968 1.430 . . . 0.0003 nonsynonymous_SNV exonic T . 2.703e-05 . 3.5 +2 179654136 TTN C A 1 0.000199681 3.304 . . . . nonsynonymous_SNV exonic T . . . 8.5 +2 179654695 TTN C G 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0024 . intronic . 0.0022 0.0018 0.0018 6.5 +2 179656963 TTN T C 1 0.000199681 . . . . 0.0012 . intronic . 0.0015 0.0013 0.0011 4 +2 179656977 TTN A C 3 0.00958466 . . . . . . intronic . . . 0.0089 4 +2 179656993 TTN A C 1 0.00339457 . . . . . . intronic . . . 0.0063 4 +2 179658175 TTN C T 5 0.00758786 2.756 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0200 nonsynonymous_SNV exonic T 0.0233 0.0225 0.0207 4.75 +2 179658310 TTN T C 1 0.00119808 . . . . 0.0052 . intronic . 0.0042 0.0053 0.0111 1.5 +2 179659064 TTN T C 1 0.000199681 . . . . . . intronic . . . 0.0006 4 +2 179659110 TTN G A 2 0.00599042 . MedGen:CN169374 not_specified Benign 0.0024 . intronic . 0.0022 0.0018 0.0018 4 +2 179659334 TTN A C 2 0.0934505 . . . . . . intronic . . . 0.0109 1.5 +2 179659722 TTN G A 1 0.000199681 2.255 . . . . nonsynonymous_SNV exonic T . 0 . 8.5 +2 179659757 TTN T C 2 0.00599042 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145|MedGen:CN169374|MedGen:CN230736 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0022 0.0018 0.0018 6.5 +2 179659815 TTN C G 2 0.0119808 2.453 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0024 nonsynonymous_SNV exonic T 0.0022 0.0018 0.0020 4.75 +2 179659912 TTN G A 12 0.236022 2.207 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Distal_myopathy_Markesbery-Griggs_type|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0508 nonsynonymous_SNV exonic T 0.0531 0.0513 0.0551 3.5 +2 179659928 TTN C A 1 0.000199681 1.766 . . . 7.496e-05 nonsynonymous_SNV exonic T . 4.494e-05 . 8.5 +2 179660030 TTN T C 4 0.101837 . . . . 0.0138 . intronic . 0.0112 0.0120 0.0128 1.5 +2 179665231 TTN G C 1 0.000199681 . MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1858763,OMIM:604145 Limb-girdle_muscular_dystrophy,_type_2J|Dilated_cardiomyopathy_1G Likely_benign 2.997e-05 synonymous_SNV exonic . . 1.791e-05 . 7.75 +2 179665279 TTN G A 2 0.00599042 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0024 synonymous_SNV exonic . 0.0022 0.0018 0.0018 6.5 +2 179666830 TTN G A 19 0.0313498 . . . . 0.0823 . intronic . 0.0849 0.0824 0.0779 1.5 +2 179666956 TTN G A 1 0.000199681 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 8.996e-05 synonymous_SNV exonic . . 6.276e-05 . 6.5 +2 179666982 TTN C A 3 0.0289537 3.822 Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837342,OMIM:608807,Orphanet:ORPHA140922|MedGen:C1838244,OMIM:600334,Orphanet:ORPHA609|MedGen:C1858763,OMIM:604145|MedGen:C1863599,OMIM:603689,Orphanet:ORPHA178464|MedGen:C2673677,OMIM:611705,Orphanet:ORPHA289377|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Hypertrophic_cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2J|Distal_myopathy_Markesbery-Griggs_type|Dilated_cardiomyopathy_1G|Hereditary_myopathy_with_early_respiratory_failure|Myopathy,_early-onset,_with_fatal_cardiomyopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0065 nonsynonymous_SNV exonic T 0.0059 0.0065 0.0050 4.75 +2 179667090 TTN C T 107 0.703474 . . . . 0.5666 . intronic . 0.5384 0.5414 0.5640 1.5 +2 179669199 TTN C T 1 0.000998403 . . . . . . intronic . . . 0.0019 4 +2 179669227 TTN CTGGAG C 2 0.0628994 . . . . . . intronic . 0.0086 . 0.0106 1.5 +2 179669244 TTN G GA 1 0.00419329 . . . . 0.0057 . intronic . 0.0045 0.0018 0.0002 4 +2 220283259 DES A G 214 0.886182 . 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 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9889 synonymous_SNV exonic . 0.9877 0.9886 0.9896 4.5 +2 220283277 DES T C 214 0.866014 . 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 Cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.9886 synonymous_SNV exonic . 0.9880 0.9882 0.9892 4.5 +2 220283591 DES T A 1 0.000399361 6.000 MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736 Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype Uncertain_significance 0.0003 nonsynonymous_SNV exonic D . 0.0001 0.0002 10.5 +2 220283592 DES C T 9 0.0123802 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.0753 synonymous_SNV exonic . 0.0352 0.0384 0.0435 1.5 +2 220283826 DES T G 214 1 . . . . . . intronic . . . 1 1.5 +2 220284779 DES C T 133 0.529353 . MedGen:CN169374 not_specified Benign 0.6272 . intronic . 0.6303 0.6307 0.6482 1.5 +2 220284873 DES G A 1 0.000399361 6.700 Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0011664,MedGen:C4021133|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Left_ventricular_noncompaction_cardiomyopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic D 0.0002 0.0003 0.0001 10.5 +2 220284876 DES C T 4 0.00559105 5.554 Gene:1732,MeSH:D065630,MedGen:C1840644,OMIM:142340|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Congenital_diaphragmatic_hernia|Scapuloperoneal_weakness|Myofibrillar_myopathy|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0153 nonsynonymous_SNV exonic D 0.0137 0.0153 0.0150 5.5 +2 220285054 DES A G 1 0.000199681 6.166 . . . . nonsynonymous_SNV exonic D . . . 10.5 +2 220285088 DES C T 5 0.00419329 . Human_Phenotype_Ontology:HP:0003715,MedGen:C2678065,Orphanet:ORPHA593,SNOMED_CT:699269005|MedGen:CN169374 Myofibrillar_myopathy|not_specified Benign 0.0136 . intronic . 0.0109 0.0126 0.0097 1.5 +2 220285182 DES C A 7 0.0127796 . MedGen:CN169374 not_specified Benign 0.0511 . intronic . 0.0521 0.0498 0.0476 1.5 +2 220285273 DES C T 1 0.00419329 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0001 7.276e-05 0.0002 4 +2 220285309 DES C T 81 0.33746 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3555 0.3562 0.3400 1.5 +2 220285395 DES G A 1 0.000399361 . . . . 3.019e-05 . intronic . . 1.795e-05 . 6.5 +2 220285666 DES G C 81 0.33766 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3631 synonymous_SNV exonic . 0.3551 0.3551 0.3399 1.5 +2 220286142 DES G A 81 0.333666 . Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446 Scapuloperoneal_weakness|Myofibrillar_myopathy_1|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant Benign 0.3603 synonymous_SNV exonic . 0.3552 0.3567 0.3410 1.5 +2 220288562 DES C G 1 0.00539137 . . . . 0.0002 . intronic . . 7.195e-05 . 4 +2 220290674 DES G A 1 0.00978435 1.930 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0003704,MedGen:C1842161|MedGen:C1832370,OMIM:601419,Orphanet:ORPHA98909|MedGen:C3809137,OMIM:615325,Orphanet:ORPHA363543|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239446|MedGen:CN517202 Primary_dilated_cardiomyopathy|Scapuloperoneal_weakness|Myofibrillar_myopathy_1|Muscular_dystrophy,_limb-girdle,_type_2r|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Myofibrillar_Myopathy,_Dominant|not_provided Benign/Likely_benign 0.0001 nonsynonymous_SNV exonic D 0.0001 0.0002 6.691e-05 7.25 +3 8775589 CAV3 C T 25 0.0425319 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1248 0.1301 0.1246 1.5 +3 8775661 CAV3 C T 71 0.371006 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2648 synonymous_SNV exonic . 0.2388 0.2547 0.2666 1.5 +3 8775702 CAV3 G A 4 0.076877 . MedGen:CN517202 not_provided not_provided 0.0556 . intronic . 0.0499 0.0503 0.0580 1.5 +3 8775724 CAV3 G A 3 0.000998403 . . . . 0.0016 . intronic . 0.0015 0.0017 0.0010 4 +3 8787164 CAV3 AAGCGGGTGGCTTCTGTG A 27 0.0461262 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Likely_benign 0.1408 . intronic . . 0.1406 0.1347 1.5 +3 8787189 CAV3 G C 10 0.0648962 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0871 . intronic . 0.0891 0.0825 0.0922 4.5 +3 8787220 CAV3 T C 38 0.152955 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C3280443,OMIM:614321|MedGen:CN043575,Orphanet:ORPHA207078|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN239426|MedGen:CN517202 Hypertrophic_cardiomyopathy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Distal_myopathy,_Tateyama_type|Caveolinopathy|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|Limb-Girdle_Muscular_Dystrophy,_Dominant|not_provided Benign/Likely_benign 0.2372 synonymous_SNV exonic . 0.2410 0.2384 0.2446 1.5 +3 8787313 CAV3 C G 2 0.000998403 4.285 Human_Phenotype_Ontology:HP:0003236,MedGen:C0241005,OMIM:123320|Human_Phenotype_Ontology:HP:0006785,MedGen:C0686353,Orphanet:ORPHA263,SNOMED_CT:93153005|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1832567,OMIM:607801,Orphanet:ORPHA265|MedGen:C1853698,OMIM:606072,Orphanet:ORPHA97238|MedGen:C2678485,OMIM:611818|MedGen:C3280443,OMIM:614321|MedGen:C3495498,OMIM:192600|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Elevated_serum_creatine_phosphokinase|Limb-girdle_muscular_dystrophy|Long_QT_syndrome|Limb-girdle_muscular_dystrophy,_type_1C|Rippling_muscle_disease|Long_QT_syndrome_9|Distal_myopathy,_Tateyama_type|Familial_hypertrophic_cardiomyopathy_1|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0012 nonsynonymous_SNV exonic D 0.0017 0.0017 0.0014 8.5 +3 8787330 CAV3 C T 4 0.00199681 4.085 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678485,OMIM:611818|MedGen:C3279093|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_9|Long_QT_syndrome_2/9,_digenic|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0042 nonsynonymous_SNV exonic D 0.0044 0.0037 0.0027 7 +3 12626019 RAF1 G A 3 0.00439297 . MedGen:CN166718,Orphanet:ORPHA98733|MedGen:CN169374|MedGen:CN230736 Rasopathy|not_specified|Cardiovascular_phenotype Benign 0.0111 synonymous_SNV exonic . 0.0112 0.0107 0.0095 1.5 +3 12626516 RAF1 G A 92 0.364617 . MedGen:CN169374 not_specified Benign 0.3593 . intronic . 0.3652 0.3577 0.3590 7.5 +3 12633168 RAF1 A G 8 0.0213658 . MedGen:CN169374 not_specified Benign 0.0133 . intronic . 0.0119 0.0137 0.0116 4.5 +3 12641349 RAF1 A G 2 0.00459265 . MedGen:CN169374 not_specified Likely_benign 0.0147 . intronic . 0.0155 0.0141 0.0115 1.5 +3 12641350 RAF1 A G 2 0.00459265 . MedGen:CN169374 not_specified Likely_benign 0.0147 . intronic . 0.0156 0.0141 0.0115 1.5 +3 12641873 RAF1 C T 1 0.000199681 . . . . 1.498e-05 . intronic . . 8.956e-06 . 6.5 +3 12647830 RAF1 G A 1 0.00299521 . . . . 0.0045 . intronic . 0.0042 0.0039 0.0026 4 +3 12650482 RAF1 T A 214 1 . . . . . . intronic . . . 1 1.5 +3 14166739 TMEM43 G C 1 0.00199681 . . . . 0.0054 . intronic . 0.0037 0.0045 0.0047 4 +3 14166813 TMEM43 G C 1 0.00119808 . . . . . . intronic . . . 0.0011 4 +3 14166835 TMEM43 C T 27 0.245807 . . . . . . intronic . . . 0.1146 1.5 +3 14171082 TMEM43 C T 1 0.00179712 . . . . 0.0061 . intronic . 0.0055 0.0064 0.0083 4 +3 14172381 TMEM43 C T 9 0.00399361 . MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0124 synonymous_SNV exonic . 0.0121 0.0137 0.0123 1.5 +3 14172494 TMEM43 G A 1 0.00139776 . . . . 1.547e-05 . intronic . . 9.726e-06 . 4 +3 14173963 TMEM43 G T 54 0.45627 . . . . . . intronic . . . 0.2910 1.5 +3 14174002 TMEM43 G A 1 0.000199681 . . . . 1.502e-05 . intronic . . 8.959e-06 . 6.5 +3 14174146 TMEM43 T C 77 0.557308 . . . . 0.3973 . intronic . 0.4069 0.3989 0.4133 1.5 +3 14174170 TMEM43 G C 1 0.000199681 . . . . . . intronic . . . 6.685e-05 6.5 +3 14174318 TMEM43 G A 3 0.00499201 . . . . 0.0105 . intronic . 0.0095 0.0102 0.0120 1.5 +3 14174427 TMEM43 A T 53 0.352636 2.489 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2792 nonsynonymous_SNV exonic T 0.2878 0.2838 0.2893 3.5 +3 14174454 TMEM43 G T 2 0.00798722 . MedGen:CN169374 not_specified Benign 0.0194 . intronic . 0.0226 0.0219 0.0220 1.5 +3 14175262 TMEM43 T C 54 0.463259 0.428 MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.2864 nonsynonymous_SNV exonic T 0.2955 0.2909 0.2967 3.5 +3 14176446 TMEM43 G A 52 0.350839 . . . . . . intronic . . . 0.2813 1.5 +3 14177251 TMEM43 G A 46 0.201877 . . . . . . intronic . . . 0.2547 1.5 +3 14177433 TMEM43 G A 1 0.000599042 . MedGen:CN517202 not_provided Likely_benign 0.0011 . intronic . 0.0015 0.0008 0.0006 4 +3 14180633 TMEM43 C T 38 0.0964457 . . . . 0.2108 . intronic . 0.2149 0.2122 0.2069 4.5 +3 14180706 TMEM43 C T 7 0.0213658 . MedGen:C1858379,OMIM:604400|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_5|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0210 synonymous_SNV exonic . 0.02 0.0213 0.0181 1.5 +3 14180732 TMEM43 G A 1 0.000199681 6.388 . . . . nonsynonymous_SNV exonic T . . . 8.5 +3 14183326 TMEM43 T C 1 0.00579073 . . . . 0.0108 . UTR3 . 0.0083 0.0094 0.0105 1.5 +3 32148371 GPD1L G T 1 0.000199681 . . . . . . intronic . . . 0.0019 0 +3 32169509 GPD1L G A 1 0.000199681 . . . . . . intronic . . . . 2.5 +3 32181709 GPD1L C A 1 0.000199681 . . . . 0.0002 . intronic . . 8.067e-05 6.662e-05 2.5 +3 32181710 GPD1L A T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 0.0002 . intronic . . 8.066e-05 6.667e-05 2.5 +3 32181725 GPD1L A G 1 0.000399361 2.478 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 2.997e-05 nonsynonymous_SNV exonic T . 8.962e-06 0.0001 4.5 +3 32181761 GPD1L C T 35 0.14976 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1307 synonymous_SNV exonic . 0.1387 0.1348 0.1251 -2.5 +3 32181798 GPD1L C T 2 0.000399361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0003 synonymous_SNV exonic . 0.0003 0.0003 6.664e-05 2.5 +3 32188248 GPD1L GA G 4 0.101637 . . . . 0.0185 . intronic . 0.0194 0.0189 0.0159 -2.5 +3 32200322 GPD1L T C 46 0.479433 . . . . 0.3354 . intronic . 0.3065 0.3094 0.3225 0.5 +3 32200588 GPD1L C T 2 0.000399361 0.097 Human_Phenotype_Ontology:HP:0001522,MedGen:C1844947|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C2673193,OMIM:611777|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Death_in_infancy|Brugada_syndrome|Brugada_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0002 6.67e-05 4.5 +3 32201104 GPD1L C T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN230736 Brugada_syndrome|Cardiovascular_phenotype Likely_benign 0.0001 synonymous_SNV exonic . . 0.0001 . 2.5 +3 32201123 GPD1L G T 1 0.000199681 2.083 . . . 1.517e-05 nonsynonymous_SNV exonic T . 8.97e-06 . 4.5 +3 38591847 SCN5A G C 1 0.000399361 -2.385 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Likely_benign 0.0020 nonsynonymous_SNV exonic T 0.0016 0.0019 0.0017 6 +3 38591888 SCN5A C G 1 0.000199681 -3.096 . . . 1.565e-05 nonsynonymous_SNV exonic T . 2.058e-05 . 8.5 +3 38592406 SCN5A A G 76 0.492412 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.3338 synonymous_SNV exonic . 0.3336 0.3339 0.3240 1.5 +3 38592799 SCN5A G A 1 0.000199681 . MedGen:CN169374 not_specified Benign/Likely_benign 5.993e-05 synonymous_SNV exonic . . 3.58e-05 . 6.5 +3 38597180 SCN5A G A 1 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0044 synonymous_SNV exonic . 0.0045 0.0047 0.0060 4 +3 38597867 SCN5A C T 30 0.0854633 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign . . intronic . . . 0.0882 4.5 +3 38598669 SCN5A A G 12 0.127995 . . . . . . intronic . 0.0597 . 0.0585 1.5 +3 38601665 SCN5A C T 2 0.00359425 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0131 synonymous_SNV exonic . 0.0138 0.0134 0.0123 1.5 +3 38601722 SCN5A C G 1 0.000199681 1.309 . . . 1.521e-05 nonsynonymous_SNV exonic D . 8.954e-06 . 8.5 +3 38603958 SCN5A G A 1 0.000199681 5.635 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1141890,Orphanet:ORPHA768,SNOMED_CT:442917000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:C1859062,OMIM:603830|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Congenital_long_QT_syndrome|Brugada_syndrome|Long_QT_syndrome_3|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic D 0.0005 0.0003 6.678e-05 8 +3 38618080 SCN5A A G 11 0.0345447 . . . . . . intronic . . . 0.0621 1.5 +3 38618142 SCN5A G A 1 0.00199681 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Cardiomyopathy|Brugada_syndrome|not_specified Benign 0.0096 . intronic . 0.0064 0.0080 0.0097 4 +3 38618342 SCN5A G A 1 0.000798722 . . . . . . intronic . . . 0.0003 4 +3 38622467 SCN5A T C 193 0.923123 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.8898 synonymous_SNV exonic . 0.8830 0.8897 0.8978 1.5 +3 38622745 SCN5A C A 2 0.000399361 6.503 . . . 3.41e-05 nonsynonymous_SNV exonic D . 1.825e-05 . 10.5 +3 38622868 SCN5A G A 8 0.0323482 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0440 . intronic . 0.0430 0.0386 0.0366 1.5 +3 38627153 SCN5A G GGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGT,GGTGTGTGTGTGTGTGTGTGTGTGTGTGT 8 0.359824 . . . . . . intronic . . . . 1.5 +3 38627537 SCN5A G T 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310|MedGen:CN517202 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|not_provided Conflicting_interpretations_of_pathogenicity 0.0006 . intronic . 0.0007 0.0008 0.0011 4 +3 38628851 SCN5A A AC 2 0.00139776 . . . . 0.0041 . intronic . 0.0042 0.0043 0.0044 4 +3 38628879 SCN5A C T 5 0.00239617 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN239310 Cardiomyopathy|Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0048 . intronic . 0.0031 0.0037 0.0037 5 +3 38640536 SCN5A C T 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Likely_benign 3.212e-05 synonymous_SNV exonic . . 1.841e-05 . 6.5 +3 38645420 SCN5A T C 50 0.230431 -1.102 . . . 0.2246 nonsynonymous_SNV exonic T 0.2321 0.2301 0.2467 3.5 +3 38645506 SCN5A A G 2 0.00199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0085 synonymous_SNV exonic . 0.0081 0.0073 0.0062 4 +3 38645516 SCN5A C T 1 0.000399361 2.390 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Uncertain_significance 6.115e-05 nonsynonymous_SNV exonic T 0.0001 4.607e-05 6.673e-05 8.5 +3 38646423 SCN5A C T 42 0.17512 . MedGen:CN169374 not_specified Benign 0.2266 . intronic . 0.1935 0.1983 0.2173 1.5 +3 38647642 SCN5A G T 42 0.151158 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.1847 . intronic . 0.1850 0.1870 0.2089 1.5 +3 38649621 SCN5A G A 1 0.000199681 . . . . 4.496e-05 . intronic . . 5.386e-05 0 6.5 +3 38651442 SCN5A G A 2 0.00139776 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Brugada_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0053 synonymous_SNV exonic . 0.0067 0.0054 0.0049 4 +3 38655354 SCN5A C A 1 0.000199681 . . . . 3.303e-05 . intronic . . 1.158e-05 . 6.5 +3 38655358 SCN5A G A 1 0.000199681 . . . . 0.0004 . intronic . 0.0006 0.0004 0.0002 4 +3 38655643 SCN5A C T 43 0.223043 . . . . . . intronic . . . 0.1556 1.5 +3 38662276 SCN5A C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +3 38662310 SCN5A C T 1 0.000599042 . . . . 0 . intronic . . 0 0 4 +3 38671768 SCN5A G T 10 0.0465256 . MedGen:CN169374 not_specified Benign 0.0337 . intronic . 0.0368 0.0341 0.0309 1.5 +3 38671840 SCN5A G A 1 0.00539137 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0031 synonymous_SNV exonic . 0.0029 0.0029 0.0034 4 +3 38671944 SCN5A G A 2 0.0644968 . MedGen:CN169374 not_specified Benign 0.0184 . intronic . 0.0175 0.0185 0.0191 1.5 +3 38674475 SCN5A C T 11 0.0385383 . . . . . . intronic . 0.0377 . 0.0342 1.5 +3 38674652 SCN5A C T 2 0.000399361 . . . . 3.081e-05 synonymous_SNV exonic . . 1.809e-05 . 6.5 +3 38674712 SCN5A T C 178 0.781749 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0037052,Orphanet:ORPHA166282,SNOMED_CT:36083008|MedGen:C0340493,Orphanet:ORPHA228140,SNOMED_CT:233915000|MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN206278,Orphanet:ORPHA871|MedGen:CN230736|MedGen:CN239310 Long_QT_syndrome|Sick_sinus_syndrome|Paroxysmal_familial_ventricular_fibrillation|Brugada_syndrome|Romano-Ward_syndrome|not_specified|Progressive_familial_heart_block|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.7906 synonymous_SNV exonic . 0.8072 0.7949 0.7774 1.5 +3 38739353 SCN10A G A 1 0.000399361 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0006 synonymous_SNV exonic . 0.0003 0.0005 0.0005 0 +3 38739455 SCN10A G A 1 0.000199681 . . . . 5.994e-05 synonymous_SNV exonic . 0.0002 6.285e-05 0.0001 2.5 +3 38739494 SCN10A G A 5 0.014377 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0303 synonymous_SNV exonic . 0.0308 0.0317 0.0334 -2.5 +3 38739574 SCN10A T C 214 1 0.227 MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic T . 1 1 -0.5 +3 38739622 SCN10A C T 4 0.00638978 0.274 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0144 nonsynonymous_SNV exonic T 0.0137 0.0139 0.0133 -0.5 +3 38739845 SCN10A A G 201 0.92472 . MedGen:CN169374 not_specified Benign 0.9180 synonymous_SNV exonic . 0.9151 0.9162 0.9122 -2.5 +3 38740001 SCN10A C T 4 0.0579073 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0148 synonymous_SNV exonic . 0.0142 0.0143 0.0139 -2.5 +3 38743314 SCN10A G A 1 0.00519169 . MedGen:CN169374 not_specified Benign 0.0005 . intronic . 0.0006 0.0004 0.0003 0 +3 38743571 SCN10A G A 1 0.000199681 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign/Likely_benign 0.0016 synonymous_SNV exonic . 0.0009 0.0015 0.0042 0 +3 38743629 SCN10A G A 4 0.00359425 . . . . 0.0079 . intronic . 0.0064 0.0081 0.0063 1 +3 38748833 SCN10A T C 39 0.242412 . MedGen:CN169374 not_specified Benign 0.1396 synonymous_SNV exonic . 0.1430 0.1404 0.1377 -2.5 +3 38748883 SCN10A A G 1 0.000199681 . . . . 4.501e-05 . intronic . . 4.486e-05 . 2.5 +3 38752386 SCN10A T G 1 0.000199681 . . . . 1.646e-05 synonymous_SNV exonic . . 1.798e-05 . 2.5 +3 38753977 SCN10A C T 60 0.251997 . . . . 0.2667 . intronic . 0.2617 0.2594 0.2686 -2.5 +3 38755505 SCN10A G A 1 0.000199681 11.990 . . . 3e-05 stopgain exonic . . 8.957e-06 . 7.5 +3 38755637 SCN10A A G 1 0.0740815 . . . . . . intronic . . . 0.0131 -2.5 +3 38763863 SCN10A G C 61 0.219649 . MedGen:CN169374 not_specified Benign 0.2636 synonymous_SNV exonic . 0.2602 0.2571 0.2677 -2.5 +3 38764998 SCN10A A G 61 0.219649 0.961 MedGen:CN169374 not_specified Benign 0.3007 nonsynonymous_SNV exonic T 0.26 0.2587 0.2678 -0.5 +3 38765075 SCN10A C T 1 0.000599042 . . . . 0.0004 . intronic . 0.0001 0.0002 6.67e-05 0 +3 38766675 SCN10A A G 130 0.757987 -0.943 MedGen:CN169374 not_specified Benign 0.6036 nonsynonymous_SNV exonic T 0.6019 0.6030 0.6167 -0.5 +3 38766701 SCN10A C T 17 0.115415 . MedGen:CN169374 not_specified Benign 0.1411 synonymous_SNV exonic . 0.1414 0.1448 0.1510 -2.5 +3 38766825 SCN10A A G 13 0.0844649 . MedGen:CN169374 not_specified Benign 0.0512 . intronic . 0.0492 0.0506 0.0473 -2.5 +3 38768212 SCN10A G A 1 0.000599042 4.779 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0014 nonsynonymous_SNV exonic T 0.0014 0.0018 0.0013 2 +3 38768247 SCN10A G A 70 0.190495 . MedGen:CN169374 not_specified Benign 0.2635 synonymous_SNV exonic . 0.2614 0.2571 0.2661 -2.5 +3 38768300 SCN10A T C 70 0.210663 -1.544 MedGen:CN169374 not_specified Benign 0.2642 nonsynonymous_SNV exonic T 0.2620 0.2575 0.2662 -0.5 +3 38768334 SCN10A T C 17 0.135982 . MedGen:CN169374 not_specified Benign 0.0644 synonymous_SNV exonic . 0.0648 0.0656 0.0613 -2.5 +3 38768427 SCN10A G T 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 2.5 +3 38768609 SCN10A G A 1 0.000199681 . . . . . . intronic . . . 6.663e-05 2.5 +3 38769983 SCN10A C T 1 0.000199681 . . . . 3.126e-05 . intronic . . 2.357e-05 . 2.5 +3 38770391 SCN10A A G 1 0.000199681 5.824 . . . 3.044e-05 nonsynonymous_SNV exonic D . 6.533e-05 . 6.5 +3 38780971 SCN10A G A 42 0.1873 . . . . 0.2548 . intronic . 0.2509 0.2555 0.2653 -2.5 +3 38784010 SCN10A C A 1 0.000199681 2.858 . . . 1.509e-05 nonsynonymous_SNV exonic D . 9.052e-06 . 4.5 +3 38784029 SCN10A T C 131 0.757788 . MedGen:CN169374 not_specified Benign 0.5976 . intronic . 0.5951 0.5958 0.6096 -2.5 +3 38784056 SCN10A A C 5 0.137979 . . . . 0.0299 . intronic . 0.0297 0.0296 0.0286 -2.5 +3 38791482 SCN10A C T 5 0.137979 . . . . . . intronic . . . 0.0275 -2.5 +3 38791507 SCN10A C T 13 0.0880591 . . . . . . intronic . . . 0.0470 -2.5 +3 38793940 SCN10A A G 5 0.139976 -0.356 MedGen:CN169374 not_specified Benign 0.0288 nonsynonymous_SNV exonic T 0.0280 0.0285 0.0276 -0.5 +3 38793989 SCN10A G A 70 0.207668 . MedGen:CN169374 not_specified Benign 0.2599 synonymous_SNV exonic . 0.2523 0.2507 0.2585 -2.5 +3 38798171 SCN10A C T 70 0.207468 . MedGen:CN169374 not_specified Benign 0.2542 synonymous_SNV exonic . 0.2509 0.2474 0.2567 -2.5 +3 38802155 SCN10A A G 1 0.00139776 . MedGen:CN169374 not_specified Likely_benign 0.0031 . intronic . 0.0031 0.0035 0.0026 0 +3 38802251 SCN10A A G 77 0.388778 . MedGen:CN169374 not_specified Benign 0.2855 . intronic . 0.2826 0.2779 0.2867 -2.5 +3 38802620 SCN10A TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG T 3 0.0091853 . . . . . . intronic . . . 0.0237 -2.5 +3 38804951 SCN10A G A 2 0.00159744 . . . . 0.0047 . intronic . 0.0064 0.0048 0.0039 0 +3 38805069 SCN10A T C 4 0.0419329 1.807 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0156 nonsynonymous_SNV exonic T 0.0159 0.0156 0.0147 -0.5 +3 38805130 SCN10A C G 7 0.11901 . . . . 0.0471 . intronic . 0.0463 0.0457 0.0483 -2.5 +3 38805157 SCN10A G A 6 0.00279553 . . . . . . intronic . . . 0.0105 -2.5 +3 38812708 SCN10A C T 77 0.416334 . . . . . . intronic . . . 0.3799 -2.5 +3 38835173 SCN10A T A 2 0.00379393 . . . . . . intronic . . . 0.0099 0 +3 38835457 SCN10A G A 4 0.00299521 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0072 synonymous_SNV exonic . 0.0107 0.0087 0.0101 -2.5 +3 38835461 SCN10A C A 2 0.00119808 5.749 MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Likely_benign 0.0032 nonsynonymous_SNV exonic D 0.0030 0.0027 0.0030 4 +3 38835509 SCN10A T A 1 0.000599042 . MedGen:CN169374 not_specified Likely_benign 0.0014 . upstream . 0.0013 0.0015 0.0035 0 +3 46899725 MYL3 G A 1 0.000199681 . MedGen:CN169374 not_specified Benign 0.0001 . UTR3 . 0.0002 9.847e-05 0.0001 6.5 +3 46900051 MYL3 G A 11 0.147165 . . . . . . intronic . . . 0.0788 4.5 +3 46902129 MYL3 T G 26 0.462859 . MedGen:CN169374 not_specified Benign 0.1263 . intronic . 0.1248 0.1198 0.1208 1.5 +3 46902491 MYL3 C A 2 0.000998403 . MedGen:C1837471,OMIM:608751|MedGen:CN169374 Familial_hypertrophic_cardiomyopathy_8|not_specified Benign/Likely_benign 0.0020 . intronic . 0.0037 0.0022 0.0023 5.25 +3 46902578 MYL3 C T 1 0.000399361 . . . . . . intronic . . . 0.0003 6.5 +3 46904708 MYL3 C A 26 0.39397 . MedGen:CN169374 not_specified Benign 0.1246 . intronic . 0.1230 0.1187 0.1196 4.5 +3 46904812 MYL3 G A 3 0.0371406 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1837471,OMIM:608751|MedGen:CN169374|MedGen:CN230736 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_8|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0066 synonymous_SNV exonic . 0.0074 0.0065 0.0075 2.75 +3 52485889 TNNC1 C T 1 0.000199681 . . . . . . intronic . . . . 6.5 +3 57743337 SLMAP C G 51 0.192492 . . . . 0.1964 . UTR5 . 0.1936 0.1945 0.1874 0.5 +3 57835630 SLMAP G A 1 0.000399361 . . . . . . intronic . . . 6.66e-05 2.5 +3 57843561 SLMAP C T 1 0.000599042 . . . . 0.0002 . intronic . . 0.0002 0.0001 0 +3 57846577 SLMAP C A 55 0.228634 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.2301 . intronic . 0.1615 0.2452 0.2002 -2.5 +3 57846627 SLMAP A G 1 0.000798722 . . . . . . intronic . . . 0.0012 0 +3 57847871 SLMAP A G 1 0.000199681 . . . . . . intronic . . . . 2.5 +3 57857439 SLMAP A G 8 0.0147764 . MedGen:CN169374 not_specified Benign 0.0489 . intronic . 0.0506 0.0523 0.0452 -2.5 +3 57882601 SLMAP C T 60 0.299521 . MedGen:CN169374 not_specified Benign 0.2669 synonymous_SNV exonic . 0.2420 0.2560 0.2499 -2.5 +3 57893558 SLMAP A G 1 0.000199681 . . . . . . intronic . . . . 2.5 +3 57898376 SLMAP T A 7 0.0071885 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0282 synonymous_SNV exonic . 0.0320 0.0294 0.0254 -2.5 +3 57898433 SLMAP A G 1 0.000399361 . . . . 0.0004 . intronic . 0.0005 0.0003 0.0002 0 +3 57902639 SLMAP G A 9 0.0133786 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Benign 0.0334 synonymous_SNV exonic . 0.0322 0.0327 0.033 -2.5 +3 57908594 SLMAP CT C 51 0.1875 . . . . 0.1998 . intronic . 0.1907 0.2014 0.1827 -2.5 +3 57912985 SLMAP G A 1 0.000399361 . . . . 0.0006 . intronic . 0.0001 0.0004 0.0001 0 +3 57913141 SLMAP T A 1 0.000199681 . . . . 0 . UTR3 . . 0 . 2.5 +3 180702494 DNAJC19 T G 1 0.00199681 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374 3-methylglutaconic_aciduria_type_V|not_specified Benign 0.0078 synonymous_SNV exonic . 0.0043 0.0055 0.0099 0 +3 180703653 DNAJC19 T C 1 0.000199681 . . . . . . intronic . . . . 2.5 +3 180703663 DNAJC19 A C 1 0.00199681 . . . . 0.0048 . intronic . 0.0062 0.0043 0.0027 0 +3 180703743 DNAJC19 C T 1 0.000199681 4.150 . . . 3.003e-05 nonsynonymous_SNV exonic T . 1.792e-05 . 4.5 +3 180705871 DNAJC19 C T 3 0.00279553 . MedGen:C1857776,OMIM:610198,Orphanet:ORPHA66634|MedGen:CN169374 3-methylglutaconic_aciduria_type_V|not_specified Conflicting_interpretations_of_pathogenicity 0.0043 synonymous_SNV\x3bsynonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic\x3bexonic . 0.0044 0.0045 0.0026 0 +3 180705940 DNAJC19 C T 1 0.000199681 . . . . . . intronic\x3bintronic\x3bintronic . . 2.686e-05 . 2.5 +3 180706141 DNAJC19 CT C 61 0.289936 . . . . . . intronic . . . 0.0364 -2.5 +3 196771513 DLG1 G A 7 0.0251597 4.635 . . . 0.0535 nonsynonymous_SNV exonic T 0.0471 0.0510 0.0556 3.5 +3 196771521 DLG1 G A 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . . 0.0002 0.0003 6.5 +3 196771554 DLG1 T C 7 0.0253594 . . . . 0.0535 synonymous_SNV exonic . 0.0470 0.0517 0.0557 1.5 +3 196778421 DLG1 A C 3 0.0115815 . . . . 0.0046 . intronic . 0.0031 0.0038 0.0021 1.5 +3 196778438 DLG1 C T 57 0.264577 . . . . 0.2687 . intronic . 0.28 0.2717 0.2591 1.5 +3 196786804 DLG1 G A 1 0.000199681 . . . . 1.5e-05 synonymous_SNV exonic . . 8.962e-06 . 6.5 +3 196792163 DLG1 C T 1 0.00419329 7.123 . . . 0.0247 nonsynonymous_SNV exonic T 0.0245 0.0250 0.0240 3.5 +3 196793475 DLG1 A T 7 0.0289537 . . . . . . intronic . . . 0.0580 1.5 +3 196795292 DLG1 TAATC T 1 0.00299521 . . . . . . intronic . . . 0.0063 4 +3 196795342 DLG1 A C 1 0.000199681 . . . . . . intronic . . 1.04e-05 . 6.5 +3 196795442 DLG1 T C 1 0.00119808 . . . . 0.0022 . intronic . 0.0020 0.0020 0.0017 4 +3 196795990 DLG1 T C 2 0.000399361 . . . . . . intronic . . . . 6.5 +3 196796231 DLG1 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +3 196796248 DLG1 TTTTC T 15 0.0369409 . . . . . . intronic . . . 0.0442 1.5 +3 196802740 DLG1 T C 1 0.000199681 2.048 . . . 1.501e-05 nonsynonymous_SNV exonic T . 8.993e-06 . 8.5 +3 196803647 DLG1 T C 63 0.252596 . . . . . . intronic . . . 0.2834 1.5 +3 196807928 DLG1 A C 4 0.00559105 1.923 . . . 0.0109 nonsynonymous_SNV exonic T 0.0134 0.0119 0.0103 3.5 +3 196808026 DLG1 A C 1 0.000199681 . . . . 0.0003 . intronic . . 0.0004 0.0003 6.5 +3 196817735 DLG1 A T 7 0.029353 . . . . 0.0561 . intronic . 0.0502 0.0550 0.0580 1.5 +3 196831946 DLG1 C T 3 0.00738818 . . . . . . intronic . . . 0.0184 1.5 +3 196846378 DLG1 G A 1 0.000199681 2.660 . . . 3.013e-05 nonsynonymous_SNV exonic T . 2.701e-05 . 8.5 +3 196846437 DLG1 C T 34 0.0794728 . . . . 0.1958 . intronic . 0.1755 0.1763 0.1724 1.5 +3 196865242 DLG1 C T 38 0.127995 4.417 . . . 0.1487 nonsynonymous_SNV exonic T 0.1473 0.1455 0.1379 3.5 +3 196865301 DLG1 A G 7 0.0255591 . . . . 0.1585 . intronic . . 0.0809 0.0550 1.5 +3 196869518 DLG1 T C 57 0.257188 . . . . . . intronic . 0.2719 . 0.2613 1.5 +3 196869688 DLG1 A G 214 0.993211 . . . . 1.0000 . intronic . 0.9999 1.0000 1 1.5 +3 196876600 DLG1 G A 34 0.0766773 . . . . 0.1784 . intronic . 0.1783 0.1725 0.1723 1.5 +3 196876717 DLG1 G A 1 0.00139776 . . . . 0.0025 . intronic . 0.0031 0.0032 0.0027 4 +3 196876775 DLG1 T TTA 34 0.105032 . . . . . . intronic . . . 0.1721 1.5 +3 196921360 DLG1 T C 13 0.0145767 2.040 . . . 0.0470 nonsynonymous_SNV exonic T 0.0443 0.0453 0.0511 3.5 +3 196921477 DLG1 C T 2 0.000998403 . . . . 0.0007 . intronic . 0.0009 0.0005 0.0002 4 +3 197009609 DLG1 G A 1 0.000199681 4.090 . . . 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0001 . 8.5 +4 113825680 ANK2 G T 1 0.000199681 . . . . . . intronic . . . . 6.5 +4 113971067 ANK2 A G 1 0.000399361 . . . . . . intronic . . . 0.0012 4 +4 114117472 ANK2 C T 31 0.179113 . . . . . . intronic . . . 0.1479 1.5 +4 114117474 ANK2 A AT 31 0.179113 . . . . 0.1522 . intronic . 0.1442 0.1499 0.1482 1.5 +4 114120284 ANK2 C T 3 0.0253594 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.0343 . intronic . 0.0293 0.0358 0.0413 1.5 +4 114158111 ANK2 T C 1 0.000399361 . . . . 0.0007 . intronic . 0.0005 0.0007 0.0005 4 +4 114158395 ANK2 TA T 3 0.0107827 . . . . . . intronic . . . 0.0391 1.5 +4 114161619 ANK2 T C 2 0.00279553 . . . . 0.0110 . intronic . 0.0116 0.0122 0.0117 1.5 +4 114171076 ANK2 A G 5 0.0549121 . . . . . . intronic . . . 0.0509 1.5 +4 114176848 ANK2 GA G 1 0.00159744 . . . . 0.2109 . intronic . 0.1409 0.1401 0.0383 1.5 +4 114176850 ANK2 A G 1 0.00159744 . . . . 0 . intronic . . 0 0 4 +4 114179348 ANK2 C T 1 0.000399361 . . . . 0.0008 . intronic . 0.0003 0.0006 0.0006 4 +4 114186005 ANK2 C T 3 0.0291534 . . . . 0.0322 . intronic . 0.0318 0.0367 0.0425 1.5 +4 114186067 ANK2 A G 1 0.00159744 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0076 synonymous_SNV exonic . 0.0040 0.0035 0.0029 4 +4 114209691 ANK2 C T 28 0.0790735 . . . . 0.1173 . intronic . 0.1069 0.1139 0.1055 1.5 +4 114209732 ANK2 T C 32 0.177716 . . . . . . intronic . . . 0.1126 1.5 +4 114213551 ANK2 C T 4 0.00359425 . . . . 0.0183 . intronic . 0.0094 0.0125 0.0108 1.5 +4 114213561 ANK2 G A 1 0.00119808 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related Benign/Likely_benign 0.0100 . intronic . 0.0071 0.0081 0.0086 4 +4 114213631 ANK2 C T 5 0.0215655 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0445 synonymous_SNV exonic . 0.0366 0.0355 0.0472 1.5 +4 114213705 ANK2 C T 9 0.00499201 . . . . 0.0152 . intronic . 0.0122 0.0122 0.0101 1.5 +4 114214524 ANK2 G T 2 0.00479233 . . . . . . intronic . . . 6.665e-05 4 +4 114214588 ANK2 C T 1 0.00419329 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign 0.0098 . intronic . 0.0110 0.0102 0.0079 1.5 +4 114254240 ANK2 G T 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0012 synonymous_SNV exonic . 0.0009 0.0008 0.0003 4 +4 114254322 ANK2 A G 2 0.000399361 2.396 . . . 1.498e-05 nonsynonymous_SNV exonic D . 8.953e-06 . 8.5 +4 114257201 ANK2 C T 19 0.260383 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0990 synonymous_SNV exonic . 0.1038 0.0993 0.1036 1.5 +4 114257694 ANK2 A G 1 0.000199681 . . . . 0 . intronic . . 1.233e-05 . 6.5 +4 114260492 ANK2 G T 19 0.228634 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374 Long_QT_syndrome|not_specified Benign/Likely_benign 0.0990 . intronic . 0.1044 0.1002 0.1049 1.5 +4 114260538 ANK2 C T 19 0.230032 . . . . . . intronic . . . 0.1046 1.5 +4 114263101 ANK2 T G 34 0.0479233 . . . . 0.1359 . intronic . 0.1369 0.1366 0.1228 1.5 +4 114267023 ANK2 G A 214 0.9998 . . . . 0.9996 . intronic . 0.9997 0.9996 0.9995 1.5 +4 114269499 ANK2 T G 19 0.0894569 . . . . 0.0004 . intronic . . 2.7e-05 . 1.5 +4 114269509 ANK2 G A 3 0.0960463 . . . . 0.0185 . intronic . 0.0213 0.0199 0.0182 1.5 +4 114269552 ANK2 G A 38 0.284744 . . . . . . intronic . . . 0.1610 1.5 +4 114275177 ANK2 C G 1 0.000199681 . . . . 1.501e-05 synonymous_SNV exonic . . 2.701e-05 . 6.5 +4 114275243 ANK2 C T 24 0.0389377 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1139 synonymous_SNV exonic . 0.1119 0.1123 0.1214 1.5 +4 114275541 ANK2 G A 57 0.26258 4.891 . . . 0.0015 nonsynonymous_SNV exonic T . 0 . 3.5 +4 114275942 ANK2 C G 5 0.11881 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0232 synonymous_SNV exonic . 0.0244 0.0239 0.0209 1.5 +4 114275950 ANK2 C T 1 0.000199681 1.613 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0009 nonsynonymous_SNV exonic T 0.0007 0.0008 0.0012 6 +4 114275980 ANK2 G A 1 0.000998403 3.507 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Cardiac_arrest|Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Likely_benign 0.0014 nonsynonymous_SNV exonic T 0.0012 0.0013 0.0011 6 +4 114276422 ANK2 C G 3 0.00139776 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0036 synonymous_SNV exonic . 0.0033 0.0037 0.0029 4 +4 114276880 ANK2 T C 24 0.0920527 -2.250 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1189 nonsynonymous_SNV exonic T 0.1163 0.1166 0.1250 3.5 +4 114276884 ANK2 A G 38 0.284944 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1603 synonymous_SNV exonic . 0.1620 0.1576 0.1616 1.5 +4 114276957 ANK2 A C 1 0.000199681 0.715 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 8.5 +4 114276986 ANK2 A T 1 0.000199681 4.593 . . . 2.999e-05 nonsynonymous_SNV exonic T . 1.802e-05 . 8.5 +4 114278277 ANK2 C T 14 0.187899 0.373 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0414 nonsynonymous_SNV exonic T 0.0457 0.0410 0.0371 3.5 +4 114278684 ANK2 C T 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 1.798e-05 . 6.5 +4 114278935 ANK2 C T 1 0.000199681 2.531 . . . 1.502e-05 nonsynonymous_SNV exonic D . 9.018e-06 . 8.5 +4 114279422 ANK2 A G 26 0.0920527 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1192 synonymous_SNV exonic . 0.1158 0.1167 0.1244 1.5 +4 114279628 ANK2 T C 4 0.00399361 4.950 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0114 nonsynonymous_SNV exonic D 0.0090 0.0107 0.0123 3.5 +4 114279674 ANK2 C A 8 0.00998403 2.371 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0264 nonsynonymous_SNV exonic D 0.0317 0.0271 0.0297 3.5 +4 114280145 ANK2 G A 2 0.00199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0045 synonymous_SNV exonic . 0.0031 0.0038 0.0025 4 +4 114280169 ANK2 G A 1 0.000399361 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0032 synonymous_SNV exonic . 0.0043 0.0044 0.0038 4 +4 114284645 ANK2 C T 24 0.0756789 . MedGen:C1970119,OMIM:600919|MedGen:CN169374 Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign 0.1185 . intronic . 0.1156 0.1161 0.1243 1.5 +4 114286207 ANK2 T A 2 0.00199681 4.753 EFO:EFO_0004269,Human_Phenotype_Ontology:HP:0011675,MedGen:C0855329,SNOMED_CT:248650006|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Arrhythmia|Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0043 nonsynonymous_SNV exonic T 0.0031 0.0037 0.0025 6 +4 114286357 ANK2 ATG A 198 0.76877 . MedGen:CN169374 not_specified Benign 0.5224 . intronic . . . 0.7868 1.5 +4 114289049 ANK2 A C 1 0.000199681 . . . . 1.527e-05 . intronic . . 9.295e-06 . 6.5 +4 114289062 ANK2 G A 4 0.0714856 . . . . . . intronic . . . 0.0203 1.5 +4 114294308 ANK2 T C 38 0.313299 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1581 synonymous_SNV exonic . 0.1601 0.1561 0.1617 1.5 +4 114302634 ANK2 C T 6 0.0177716 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C1970119,OMIM:600919|MedGen:CN169374 Long_QT_syndrome|Cardiac_arrhythmia,_ankyrin_B-related|not_specified Benign/Likely_benign 0.0394 . UTR3 . 0.0347 0.0373 0.0282 1.5 +4 120072006 MYOZ2 C T 1 0.000399361 . . . . 0.0018 . intronic . 0.0015 0.0013 0.0011 4 +4 120072187 MYOZ2 A G 4 0.00379393 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0149 synonymous_SNV exonic . 0.0140 0.0147 0.0127 2.125 +4 120072233 MYOZ2 G C 145 0.54353 . . . . 0.7007 . intronic . 0.7245 0.7077 0.7039 7.5 +4 120072238 MYOZ2 A G 145 0.544129 . . . . 0.7008 . intronic . 0.7248 0.7074 0.7035 7.5 +4 120079159 MYOZ2 A G 145 0.546326 . MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN517202 Familial_hypertrophic_cardiomyopathy_16|not_specified|not_provided Benign 0.7014 . intronic . 0.7257 0.7092 0.7063 8.125 +4 120085448 MYOZ2 A G 7 0.0838658 . Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C3151204,OMIM:613838|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Hypertrophic_cardiomyopathy|Familial_hypertrophic_cardiomyopathy_16|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0251 synonymous_SNV exonic . 0.0248 0.0257 0.0257 2.75 +4 120107098 MYOZ2 G GT 37 0.240216 . MedGen:CN169374 not_specified Benign 0.2616 . intronic . 0.1878 0.2415 0.2039 1.5 +4 186064502 SLC25A4 G A 4 0.0788738 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign 0.0167 . UTR5 . 0.0099 0.0102 0.0144 1.5 +4 186066373 SLC25A4 T C 2 0.00239617 . MedGen:CN169374|MedGen:CN239267 not_specified|Progressive_External_Ophthalmoplegia_with_Mitochondrial_DNA_Deletions Benign/Likely_benign 0.0109 synonymous_SNV exonic . 0.0105 0.0112 0.0143 1.5 +4 186067934 SLC25A4 G A 1 0.000199681 . . . . 1.499e-05 . intronic . . 1.793e-05 6.665e-05 6.5 +4 186423397 PDLIM3 G A 1 0.00379393 . . . . 0.0042 . UTR3 . 0.0052 0.0051 0.0045 4 +4 186423436 PDLIM3 G A 4 0.00858626 . MedGen:CN169374 not_specified Benign 0.0131 . UTR3 . 0.0129 0.0120 0.0125 1.5 +4 186423637 PDLIM3 G A 153 0.659545 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.8484 synonymous_SNV exonic . 0.8535 0.8525 0.8604 1.5 +4 186423655 PDLIM3 G A 24 0.139177 . MedGen:CN169374 not_specified Benign 0.1615 . intronic . 0.1602 0.1637 0.1652 1.5 +4 186423677 PDLIM3 G A 153 0.659545 . . . . 0.8494 . intronic . 0.8542 0.8534 0.8605 1.5 +4 186425571 PDLIM3 A G 3 0.0369409 . . . . . . intronic . . . 0.0121 1.5 +4 186425638 PDLIM3 C T 1 0.000199681 2.167 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic T 0.0003 0.0002 0.0001 11 +4 186427686 PDLIM3 G A 1 0.000199681 . . . . 3e-05 synonymous_SNV exonic . . 2.686e-05 . 6.5 +4 186427735 PDLIM3 G A 5 0.00559105 1.346 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype|not_provided Benign 0.0242 nonsynonymous_SNV exonic T 0.0210 0.0253 0.0287 4.125 +4 186427841 PDLIM3 T C 154 0.764177 . . . . 0.8507 . intronic . 0.8549 0.8550 0.8625 1.5 +4 186427871 PDLIM3 A G 57 0.197883 . . . . . . intronic . . . 0.1225 1.5 +4 186435435 PDLIM3 C T 1 0.000599042 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified Benign 0.0029 synonymous_SNV exonic . 0.0020 0.0025 0.0022 4.625 +4 186435563 PDLIM3 A G 1 0.000199681 . . . . . . intronic . . . 0.0002 6.5 +4 186444698 PDLIM3 A C 160 0.719249 . . . . . . intronic . . . 0.8765 1.5 +4 186446257 PDLIM3 G A 2 0.00259585 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|not_specified|Cardiovascular_phenotype Benign 0.0107 synonymous_SNV exonic . 0.0099 0.0109 0.0099 2.125 +4 186446365 PDLIM3 G A 1 0.000399361 . . . . 0.0001 . intronic . 0.0001 0.0002 0.0001 6.5 +4 186456617 PDLIM3 A G 214 0.948283 . . . . 0.9997 . UTR5 . 0.9993 0.9996 0.9997 1.5 +5 218381 SDHA T TC 20 0.247005 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency Likely_benign . . UTR5 . . . 0.1132 1.5 +5 218598 SDHA G A 100 0.329872 . . . . . . intronic . . . 0.4979 1.5 +5 223646 SDHA A T 8 0.0185703 0.820 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0442 nonsynonymous_SNV exonic T 0.0456 0.0458 0.0444 3.5 +5 224418 SDHA T G 20 0.247404 . . . . . . intronic . . . 0.1138 4.5 +5 224633 SDHA A G 20 0.240016 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1253 synonymous_SNV exonic . 0.1294 0.1261 0.1134 4.5 +5 224684 SDHA G A 2 0.00439297 . . . . 0.0042 . intronic . 0.0057 0.0053 0.0047 4 +5 224692 SDHA G T 20 0.244209 . . . . . . intronic . . . 0.1137 4.5 +5 225515 SDHA G T 1 0.00139776 . MedGen:C3279992,OMIM:614165|MedGen:CN169374 Paragangliomas_5|not_specified Likely_benign 0.0033 . intronic . 0.0026 0.0035 0.0041 4 +5 225709 SDHA G A 1 0.113019 . . . . 0.0033 . intronic . 0.0034 0.0029 0.0025 7.5 +5 225941 SDHA C T 40 0.307907 . . . . . . intronic . . . 0.2604 4.5 +5 226160 SDHA A C 20 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1279 synonymous_SNV exonic . 0.1359 0.1282 0.1135 4.5 +5 226222 SDHA T C 20 0.247404 . . . . . . intronic . . . 0.1137 4.5 +5 228278 SDHA CT C 20 0.234625 . MedGen:CN169374 not_specified Benign 0.1271 . intronic . 0.1308 0.1225 0.1127 1.5 +5 228362 SDHA T C 20 0.247404 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1275 synonymous_SNV exonic . 0.1360 0.1282 0.1140 4.5 +5 230942 SDHA G C 3 0.000998403 . . . . . . intronic . . . . 4 +5 230943 SDHA T C 3 0.000998403 . . . . . . intronic . . . . 4 +5 230980 SDHA A G 167 0.858427 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.8837 . intronic . 0.8817 0.8844 0.8853 7.5 +5 231042 SDHA C T 1 0.00998403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0036 synonymous_SNV exonic . 0.0036 0.0024 0.0025 4 +5 231111 SDHA T C 140 0.653355 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.7574 synonymous_SNV exonic . 0.7582 0.7575 0.7589 7.5 +5 231143 SDHA T C 20 0.247404 . . . . 0.1276 . intronic . 0.1356 0.1278 0.1139 4.5 +5 233560 SDHA G A 1 0.114018 . . . . 0.0032 . intronic . 0.0035 0.0029 0.0025 7.5 +5 233572 SDHA A G 20 0.247204 . MedGen:CN169374 not_specified Benign 0.1277 . intronic . 0.1364 0.1284 0.1138 4.5 +5 233698 SDHA G A 2 0.000399361 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign 0.0013 synonymous_SNV exonic . 0.0012 0.0015 0.0011 4 +5 233734 SDHA C G 20 0.257788 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1283 synonymous_SNV exonic . 0.1373 0.1285 0.1132 4.5 +5 235345 SDHA C G 2 0.000399361 12.451 MedGen:C0027672,SNOMED_CT:699346009 Hereditary_cancer-predisposing_syndrome Pathogenic 3.003e-05 stopgain exonic . . 1.793e-05 . 11.5 +5 235364 SDHA C T 1 0.113618 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0032 synonymous_SNV exonic . 0.0035 0.0029 0.0025 7.5 +5 235416 SDHA T C 1 0.000199681 6.036 . . . 1.503e-05 nonsynonymous_SNV exonic D . 8.953e-06 . 10.5 +5 236482 SDHA A G 2 0.00219649 . . . . . . intronic . . . . 4 +5 236587 SDHA G T 3 0.0151757 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0235 synonymous_SNV exonic . 0.0208 0.0197 0.0196 1.5 +5 236695 SDHA C T 1 0.000798722 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0033 synonymous_SNV exonic . 0.0036 0.0019 0.0021 4 +5 236753 SDHA C T 20 0.246805 . . . . 0.1254 . intronic . 0.1336 0.1260 0.1119 4.5 +5 236760 SDHA C A 22 0.2498 . . . . 0.1345 . intronic . 0.1403 0.1342 0.1191 4.5 +5 240663 SDHA A T 20 0.247604 . . . . . . intronic . . . 0.1135 4.5 +5 251055 SDHA G A 1 0.00239617 . . . . . . intronic . 0.0083 . 0.0130 1.5 +5 251178 SDHA G A 4 0.00199681 . MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Benign/Likely_benign 0.0029 synonymous_SNV exonic . 0.0028 0.0029 0.0015 5 +5 251207 SDHA C T 1 0.000399361 3.930 MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165 Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|Paragangliomas_5 Uncertain_significance 1.499e-05 nonsynonymous_SNV exonic D . 2.694e-05 . 8.5 +5 251419 SDHA C T 20 0.248203 . . . . 0.1187 . intronic . . 0.1172 0.1130 1.5 +5 251469 SDHA G A 20 0.248403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1280 synonymous_SNV exonic . . 0.1231 0.1131 1.5 +5 251526 SDHA C T 1 0.000199681 . MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:C3279992,OMIM:614165|MedGen:CN169374 Mitochondrial_complex_II_deficiency|Paragangliomas_5|not_specified Likely_benign 4.531e-05 synonymous_SNV exonic . . 7.184e-05 . 6.5 +5 251541 SDHA A G 20 0.248403 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1276 synonymous_SNV exonic . 0.1357 0.1272 0.1137 4.5 +5 254442 SDHA C T 214 0.973442 . . . . 0.9994 . intronic . . 0.9994 0.9997 1.5 +5 254636 SDHA C T 17 0.0355431 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1175 . intronic . . 0.1164 0.1161 1.5 +5 256422 SDHA A T 1 0.000399361 . . . . 0.0002 . intronic . 0.0001 0.0002 0.0002 6.5 +5 256472 SDHA G A 53 0.335264 . Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1407 synonymous_SNV exonic . 0.1436 0.1323 0.1233 4.5 +5 256509 SDHA G A 19 0.175319 0.913 Human_Phenotype_Ontology:HP:0002666,MedGen:C0031511,OMIM:171300|MedGen:C0023264,OMIM:256000,Orphanet:ORPHA506,SNOMED_CT:29570005|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C1855008,OMIM:252011,Orphanet:ORPHA3208|MedGen:CN169374 Pheochromocytoma|Leigh_syndrome|Hereditary_cancer-predisposing_syndrome|Mitochondrial_complex_II_deficiency|not_specified Benign/Likely_benign 0.1205 nonsynonymous_SNV exonic T 0.1299 0.1229 0.1084 6.5 +5 37294473 NUP155 T C 68 0.277157 . . . . 0.3075 synonymous_SNV exonic . 0.2929 0.2896 0.2895 1.5 +5 37298896 NUP155 C T 1 0.000199681 . . . . . . intronic . . . 6.664e-05 6.5 +5 37307389 NUP155 T C 5 0.0589058 . . . . 0.0429 . intronic . 0.0406 0.0425 0.0498 1.5 +5 37309371 NUP155 TAGA T 67 0.269169 . . . . 0.3044 . intronic . 0.2911 0.2847 0.2869 1.5 +5 37314287 NUP155 T TA 1 0.000599042 . . . . 0.0031 . intronic . 0.0019 0.0024 0.0022 4 +5 37318029 NUP155 T C 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 +5 37325919 NUP155 A C 5 0.0423323 . . . . . . intronic . . . 0.0482 1.5 +5 37325940 NUP155 T C 26 0.147963 . . . . . . intronic . 0.1479 . 0.1647 1.5 +5 37327832 NUP155 G A 1 0.000199681 . . . . 1.499e-05 synonymous_SNV exonic . . 8.955e-06 . 6.5 +5 37328643 NUP155 T C 1 0.000599042 . . . . . . intronic . . . 0.0016 4 +5 37331795 NUP155 A G 1 0.00159744 . . . . 0.0069 synonymous_SNV exonic . 0.0069 0.0067 0.0053 4 +5 37333727 NUP155 A G 29 0.355032 . . . . 0.1704 synonymous_SNV exonic . 0.1599 0.1620 0.1693 1.5 +5 37337942 NUP155 T C 1 0.000199681 2.170 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.958e-06 . 8.5 +5 37341352 NUP155 T C 50 0.188698 . . . . 0.2136 . intronic . 0.2115 0.2132 0.2138 1.5 +5 37350390 NUP155 C A 28 0.33766 . . . . 0.1666 . intronic . 0.1597 0.1619 0.1696 1.5 +5 37351270 NUP155 C A 1 0.000798722 . . . . 0.0016 . intronic . . 0.0020 0.0023 4 +5 37352816 NUP155 C T 1 0.000798722 . . . . 9.408e-05 . intronic . 0.0002 0.0002 0.0001 4 +5 37352829 NUP155 G A 2 0.0656949 . . . . 0.0038 . intronic . 0.0041 0.0043 0.0034 1.5 +5 37364133 NUP155 CTTT C 1 0.0169728 . . . . 0.0002 . intronic . 0.0005 0.0002 0.0003 1.5 +5 37364443 NUP155 C T 214 0.969649 . . . . 1.0000 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.9999 0.9999 0.9999 1.5 +5 37371059 NUP155 G A 4 0.0071885 . . . . 0.0105 synonymous_SNV exonic . 0.0085 0.0087 0.0098 1.5 +5 155756623 SGCD G T 1 0.000199681 . . . . 0.0026 . intronic . 0.0020 0.0026 0.0027 4 +5 155771458 SGCD G T 1 0.00119808 . . . . 0.0134 . intronic . 0.0128 0.0121 0.0107 1.5 +5 155771579 SGCD T C 100 0.485423 . MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign 0.4360 synonymous_SNV exonic . 0.4316 0.4309 0.4331 1.5 +5 155935708 SGCD G A 9 0.0189696 7.006 MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239352 Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0635 nonsynonymous_SNV exonic T 0.0642 0.0636 0.0574 3.5 +5 155935720 SGCD T C 3 0.00279553 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1832525,OMIM:601287,Orphanet:ORPHA219|MedGen:CN072428|MedGen:CN169374|MedGen:CN239310|MedGen:CN239352 Cardiomyopathy|Limb-girdle_muscular_dystrophy,_type_2F|Delta-sarcoglycanopathy|not_specified|Dilated_Cardiomyopathy,_Dominant|Limb-Girdle_Muscular_Dystrophy,_Recessive Benign/Likely_benign 0.0084 . intronic . 0.0091 0.0077 0.0090 4 +5 156022101 SGCD G A 1 0.000399361 . . . . 0.0003 . intronic . 0.0002 0.0004 0.0006 4 +5 156074654 SGCD TAAATTGA T 186 0.89996 . . . . . . intronic . . . 0.8870 1.5 +5 172659511 na C A 71 0.255591 . MedGen:CN169374 not_specified Benign . . UTR3 . . . 0.3645 -2.5 +5 172660004 na C T 4 0.00479233 . Human_Phenotype_Ontology:HP:0001631,MedGen:C0018817,Orphanet:ORPHA1478|MedGen:C3276096,OMIM:108900|MedGen:CN169374|MedGen:CN230736 Atrial_septal_defect|Atrial_septal_defect_7_with_or_without_atrioventricular_conduction_defects|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0108 synonymous_SNV exonic . 0.0077 0.0069 0.0061 -2.5 +5 172660099 na C T 1 0.000199681 6.295 MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance . nonsynonymous_SNV exonic D . . . 6.5 +5 172660523 na T A 98 0.610623 . MedGen:CN169374 not_specified Benign 0.3887 . intronic\x3bintronic . . . 0.2954 -2.5 +5 172660527 na T A 85 0.403355 . . . . 0.3725 . intronic\x3bintronic . . 0.3637 0.4326 -2.5 +5 172661690 na C T 1 0.00519169 . . . . . . intronic . . . 0.0178 -2.5 +5 172661843 na A T 1 0.000199681 1.130 . . . 3.396e-05 nonsynonymous_SNV exonic T . 2.024e-05 . 4.5 +5 172662024 na T C 60 0.535743 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3027 synonymous_SNV exonic . 0.2813 0.2975 0.2926 -2.5 +6 7542148 DSP C CA 23 0.199681 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.1686 . UTR5 . 0.1456 0.1365 0.1418 1.5 +6 7542236 DSP G A 1 0.00219649 -2.115 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|Human_Phenotype_Ontology:HP:0011663,MedGen:C2063326|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Cardiomyopathy|Right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0033 nonsynonymous_SNV exonic T 0.0019 0.0018 0.0015 8.5 +6 7542253 DSP G A 3 0.00339457 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|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:CN239181 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|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0160 synonymous_SNV exonic . 0.0087 0.0095 0.0049 4 +6 7542274 DSP T C 15 0.0609026 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.1147 synonymous_SNV exonic . 0.0524 0.0557 0.0529 1.5 +6 7556063 DSP C T 6 0.0125799 . 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:CN239181 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|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0373 . intronic . 0.0378 0.0372 0.0343 2.75 +6 7558318 DSP T C 59 0.15615 . MedGen:CN169374 not_specified Benign 0.2346 . intronic . 0.2349 0.2348 0.2266 1.5 +6 7563982 DSP C T 1 0.000199681 2.649 . . . 1.499e-05 nonsynonymous_SNV exonic D . 8.958e-06 . 8.5 +6 7563983 DSP T G 214 1 . MedGen:CN169374 not_specified Likely_benign 0.9985 synonymous_SNV exonic . 0.9981 0.9986 0.9992 1.5 +6 7564139 DSP C G 60 0.345647 . . . . . . intronic . . . 0.2848 1.5 +6 7565627 DSP G T 1 0.000199681 2.456 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.961e-06 . 8.5 +6 7565727 DSP A T 10 0.0183706 5.980 Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C0949658,Orphanet:ORPHA155,SNOMED_CT:83978005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0394 nonsynonymous_SNV exonic D 0.0419 0.0397 0.0387 10.5 +6 7565801 DSP C G 1 0.000199681 . . . . 1.502e-05 . intronic . . 2.707e-05 . 6.5 +6 7566745 DSP G GA 4 0.0239617 . . . . 0.0688 . intronic . 0.0299 0.0676 0.0008 1.5 +6 7567970 DSP C T 166 0.772764 . MedGen:CN169374 not_specified Benign 0.7683 . intronic . 0.7752 0.7668 0.7545 1.5 +6 7569353 DSP T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 7571874 DSP G A 167 0.819688 . . . . . . intronic . . . 0.7589 1.5 +6 7572026 DSP T A 92 0.508986 . MedGen:CN169374 not_specified Benign 0.4094 . intronic . 0.4183 0.4132 0.4019 1.5 +6 7572262 DSP A G 167 0.774361 . MedGen:CN169374 not_specified Benign 0.7720 synonymous_SNV exonic . 0.7795 0.7704 0.7585 1.5 +6 7574536 DSP T C 4 0.140974 . . . . 0.0119 . intronic . 0.0104 0.0076 0.0081 1.5 +6 7574852 DSP T C 15 0.0638978 . . . . 0.0556 . intronic . 0.0577 0.0556 0.0533 1.5 +6 7576527 DSP G A 170 0.735423 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.7998 synonymous_SNV exonic . 0.8024 0.8007 0.7824 1.5 +6 7577260 DSP C T 50 0.27516 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.2210 synonymous_SNV exonic . 0.2159 0.2193 0.2309 1.5 +6 7577354 DSP C A 141 0.69389 . . . . . . intronic . . . 0.6006 1.5 +6 7578189 DSP G A 62 0.279353 . . . . . . intronic . . . 0.3081 1.5 +6 7578819 DSP T G 170 0.740016 . MedGen:CN169374 not_specified Benign 0.7995 . intronic . 0.8023 0.8006 0.7798 1.5 +6 7578823 DSP G A 170 0.764377 . MedGen:CN169374 not_specified Benign 0.7998 . intronic . 0.8030 0.8006 0.7813 1.5 +6 7579705 DSP G C 1 0.000199681 5.683 . . . 3.022e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . 2.695e-05 . 6.5 +6 7580285 DSP A C 1 0.000399361 0.765 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic D 0.0001 0.0003 0.0001 11 +6 7580346 DSP G C 1 0.000199681 4.219 . . . 3.023e-05 nonsynonymous_SNV exonic T . 1.8e-05 . 8.5 +6 7580386 DSP G A 3 0.00579073 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Conflicting_interpretations_of_pathogenicity 0.0192 synonymous_SNV exonic . 0.0149 0.0178 0.0175 4 +6 7580935 DSP C T 1 0.000199681 . . . . 1.516e-05 synonymous_SNV exonic . . 9.08e-06 . 6.5 +6 7580958 DSP A G 8 0.203275 0.670 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.0455 nonsynonymous_SNV exonic T 0.0442 0.0418 0.0382 3.5 +6 7581001 DSP C A 1 0.0511182 -0.527 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign 0.0005 nonsynonymous_SNV exonic T 0.0007 0.0005 0.0003 4.125 +6 7581196 DSP G A 2 0.0071885 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0193 synonymous_SNV exonic . 0.0174 0.0192 0.0175 2.75 +6 7581636 DSP G A 33 0.240415 0.509 MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided Benign 0.1230 nonsynonymous_SNV exonic T 0.1257 0.1218 0.1245 3.5 +6 7581641 DSP G A 1 0.000399361 0.993 EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Gene:192115,Human_Phenotype_Ontology:HP:0002076,MedGen:C0149931,OMIM:157300,SNOMED_CT:37796009|Human_Phenotype_Ontology:HP:0002301,MedGen:C0018991|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN239850|MedGen:CN517202 Primary_dilated_cardiomyopathy|Migraine|Hemiplegia|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|Cardiomyopathy,_ARVC|Arrhythmogenic_right_ventricular_dysplasia|not_provided Conflicting_interpretations_of_pathogenicity 0.0016 nonsynonymous_SNV exonic T 0.0013 0.0019 0.0011 11 +6 7582993 DSP A T 6 0.00399361 6.311 MedGen:C0349788,Orphanet:ORPHA247,SNOMED_CT:253528005,SNOMED_CT:281170005|MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC|not_provided Conflicting_interpretations_of_pathogenicity 0.0139 nonsynonymous_SNV exonic T 0.0130 0.0136 0.0147 6 +6 7583885 DSP T C 3 0.00658946 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0127 synonymous_SNV exonic . 0.0136 0.0142 0.0129 2.75 +6 7583946 DSP C T 1 0.000199681 6.649 MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282 Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma Uncertain_significance 0 nonsynonymous_SNV exonic D . 0 0 10.5 +6 7584617 DSP C T 83 0.211661 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 Skin_fragility_woolly_hair_syndrome|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiovascular_phenotype|Cardiomyopathy,_ARVC Benign 0.3568 synonymous_SNV exonic . 0.3690 0.3556 0.3318 1.5 +6 7584876 DSP C T 1 0.000199681 5.363 . . . 1.503e-05 nonsynonymous_SNV exonic D . 8.965e-06 . 10.5 +6 7585670 DSP C A 9 0.0239617 . MedGen:C1843292,OMIM:607655,Orphanet:ORPHA293165|MedGen:C1843896,OMIM:607450|MedGen:C1854063,OMIM:605676,Orphanet:ORPHA65282|MedGen:C1858302,OMIM:604536,Orphanet:ORPHA158668|MedGen:C1864826,OMIM:609638,Orphanet:ORPHA158687|MedGen:CN169374|MedGen:CN230736|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign/Likely_benign 0.0674 synonymous_SNV exonic . 0.0633 0.0675 0.0605 2.75 +6 7585967 DSP G C 153 0.709465 . 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|MedGen:CN239181 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|Cardiomyopathy,_ARVC Benign 0.7101 synonymous_SNV exonic . 0.7173 0.7084 0.6820 2.125 +6 7586120 DSP T A 2 0.00319489 . 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:CN239181|MedGen:CN517202 Arrhythmogenic_right_ventricular_cardiomyopathy|Skin_fragility_woolly_hair_syndrome|Arrhythmogenic_right_ventricular_cardiomyopathy,_type_8|Dilated_cardiomyopathy_with_woolly_hair_and_keratoderma|Ectodermal_dysplasia_skin_fragility_syndrome|Epidermolysis_bullosa,_lethal_acantholytic|not_specified|Cardiomyopathy,_ARVC|not_provided Benign/Likely_benign 0.0075 . UTR3 . 0.0109 0.0072 0.0071 2.75 +6 26087649 HFE G A 1 0.000199681 . . . . 9.191e-05 . UTR5 . 0.0002 0.0002 . 2.5 +6 26087856 HFE T A 71 0.39377 . . . . . . intronic . . . 0.4144 3.5 +6 26091047 HFE A G 1 0.000199681 . . . . 0.0001 . intronic . 0.0002 0.0001 0.0003 2.5 +6 26091179 HFE C G 38 0.0730831 4.570 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis_type_1|not_provided Pathogenic,_other,_risk_factor 0.1368 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.1513 0.1441 0.1440 -2.5 +6 26091185 HFE A T 1 0.00399361 4.972 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Uncertain_significance 0.0149 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0151 0.0155 0.0137 -2.5 +6 26091309 HFE T C 1 0.000199681 3.831 . . . . nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . . . 2.5 +6 26091336 HFE T C 75 0.426717 . MedGen:C0392514,SNOMED_CT:35400008|MedGen:CN169374 Hereditary_hemochromatosis|not_specified Benign/Likely_benign 0.3205 . intronic\x3bintronic . 0.3356 0.3247 0.3213 -2.5 +6 26092865 HFE C G 1 0.0425319 . . . . 0.0017 . intronic . 0.0007 0.0017 0.0014 -2.5 +6 26093125 HFE G A 1 0.00179712 5.999 MedGen:C0392514,SNOMED_CT:35400008|MedGen:C3469186,OMIM:235200 Hereditary_hemochromatosis|Hemochromatosis_type_1 Conflicting_interpretations_of_pathogenicity 0.0006 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0007 0.0005 0.0003 0 +6 26093141 HFE G A 6 0.0125799 5.270 .|.|.|Human_Phenotype_Ontology:HP:0000992,MedGen:C0349506|Human_Phenotype_Ontology:HP:0010473,MedGen:C0151861|MedGen:C0027672,SNOMED_CT:699346009|MedGen:C0392514,SNOMED_CT:35400008|MedGen:C2673520,OMIM:612635|MedGen:C3150862|MedGen:C3280096,OMIM:614193|MedGen:C3469186,OMIM:235200|MedGen:CN517202 Alzheimer_disease,_susceptibility_to|Porphyria_cutanea_tarda,_susceptibility_to|Porphyria_variegata,_susceptibility_to|Cutaneous_photosensitivity|Porphyrinuria|Hereditary_cancer-predisposing_syndrome|Hereditary_hemochromatosis|Microvascular_complications_of_diabetes_7|Hemochromatosis,_juvenile,_digenic|Transferrin_serum_level_quantitative_trait_locus_2|Hemochromatosis_type_1|not_provided Conflicting_interpretations_of_pathogenicity,_association,_other,_risk_factor 0.0514 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0641 0.0573 0.0593 0.5 +6 26093236 HFE G A 16 0.13139 . . HFE_INTRONIC_POLYMORPHISM Benign 0.1300 . intronic\x3bintronic . 0.1291 0.1251 0.1261 -2.5 +6 26093297 HFE G A 1 0.00319489 . . . . 0.0097 . intronic . 0.0083 0.0098 0.0110 -2.5 +6 26093303 HFE T C 13 0.21865 . . . . 0.0689 . intronic . 0.0628 0.0640 0.0660 -2.5 +6 26094346 HFE G A 1 0.000199681 . . . . . . intronic . . . . 2.5 +6 26094367 HFE G A 91 0.590655 . . . . 0.4562 . intronic . 0.4708 0.4553 0.4539 -2.5 +6 26094515 HFE C T 1 0.0091853 . . . . . . UTR3 . . . 0.0004 0 +6 76538403 MYO6 G A 110 0.687899 . . . . . . intronic . . . 0.5246 1.5 +6 76540088 MYO6 A G 1 0.000199681 . . . . 0.0002 . intronic . . 0.0003 0.0002 6.5 +6 76545684 MYO6 T C 33 0.102636 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.1482 . intronic . 0.1521 0.1492 0.1487 1.5 +6 76550237 MYO6 A G 33 0.102835 . . . . . . intronic . . . 0.1482 1.5 +6 76554593 MYO6 G A 209 0.997804 . . . . 0.9853 . intronic . 0.9868 0.9856 0.9873 1.5 +6 76558200 MYO6 G A 1 0.000199681 3.506 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Conflicting_interpretations_of_pathogenicity 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0003 0.0002 8.5 +6 76558260 MYO6 A AT 7 0.139577 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Likely_benign 0.0582 . intronic . 0.0583 0.0576 0.0565 1.5 +6 76564953 MYO6 A G 2 0.0265575 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0138 synonymous_SNV exonic . 0.0130 0.0142 0.0145 1.5 +6 76566810 MYO6 A G 3 0.00199681 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0033 . intronic . 0.0042 0.0036 0.0039 4 +6 76572240 MYO6 T G 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 76572389 MYO6 A G 1 0.000199681 . . . . 1.5e-05 synonymous_SNV exonic . . 1.792e-05 . 6.5 +6 76576290 MYO6 C T 14 0.0289537 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0624 synonymous_SNV exonic . 0.0609 0.0615 0.0583 1.5 +6 76595634 MYO6 C A 33 0.1252 . . . . . . intronic . . . 0.1485 1.5 +6 76596728 MYO6 C T 71 0.147764 . MedGen:CN169374 not_specified Benign 0.3227 . intronic . 0.3349 0.3302 0.3225 7.5 +6 76599787 MYO6 C T 1 0.000399361 3.313 MedGen:CN239435|MedGen:CN239439 Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Uncertain_significance 6.076e-05 nonsynonymous_SNV exonic D 0.0001 6.291e-05 0.0001 8.5 +6 76607983 MYO6 T A 84 0.348842 . . . . . . intronic . . . 0.3927 4.5 +6 76608251 MYO6 T C 1 0.00139776 . . . . . . intronic . . . 0.0011 4 +6 76617511 MYO6 A ATGTGTGTG 53 0.138778 . . . . . . intronic . . . 0.3121 1.5 +6 76618299 MYO6 A G 1 0.000199681 2.531 MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Uncertain_significance 0.0001 nonsynonymous_SNV exonic T 0.0001 8.061e-05 6.665e-05 8.5 +6 76624538 MYO6 G A 5 0.00559105 7.271 MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.0140 nonsynonymous_SNV exonic D 0.0130 0.0122 0.0090 5.5 +6 76624741 MYO6 C T 71 0.146965 . MedGen:CN169374|MedGen:CN239435|MedGen:CN239439 not_specified|Nonsyndromic_Hearing_Loss,_Dominant|Nonsyndromic_Hearing_Loss,_Recessive Benign/Likely_benign 0.3592 . UTR3 . 0.3343 0.3327 0.3216 7.5 +6 112430850 LAMA4 C T 2 0.0463259 . . . . . . intronic . . . 0 1.5 +6 112435264 LAMA4 T G 55 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2679 . intronic . 0.2706 0.2662 0.2602 2.125 +6 112435273 LAMA4 A C 55 0.240016 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2678 . intronic . 0.2716 0.2663 0.2608 2.125 +6 112435335 LAMA4 G A 1 0.000599042 7.024 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic D . 0.0002 . 8 +6 112435444 LAMA4 G GAAT 55 0.240815 . . . . 0.2663 . intronic . 0.2699 0.2652 0.2626 1.5 +6 112435796 LAMA4 G C 56 0.240815 . . . . . . intronic . . . 0.2667 1.5 +6 112435807 LAMA4 G T 56 0.227236 . . . . . . intronic . . . 0.2668 1.5 +6 112435912 LAMA4 A T 59 0.281749 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2904 synonymous_SNV exonic . 0.2894 0.2864 0.2846 2.125 +6 112438912 LAMA4 GA G 31 0.229233 . . . . 0.1785 . intronic . 0.1688 0.1727 0.2059 1.5 +6 112439071 LAMA4 G C 1 0.00139776 3.989 . . . 6.154e-05 nonsynonymous_SNV exonic T . 1.822e-05 . 6 +6 112440311 LAMA4 C G 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 112440380 LAMA4 T C 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +6 112440464 LAMA4 G A 2 0.0666933 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0013 synonymous_SNV exonic . 0.0020 0.0011 0.0007 2.125 +6 112441727 LAMA4 A C 1 0.000199681 . . . . 1.843e-05 . intronic . . 1.01e-05 . 6.5 +6 112451012 LAMA4 A AT 1 0.00579073 . . . . . . intronic . . . 0.0032 4 +6 112457383 LAMA4 G C 55 0.210463 4.097 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.2560 nonsynonymous_SNV exonic T 0.2603 0.2561 0.2516 4.125 +6 112457390 LAMA4 C T 142 0.839856 2.280 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7033 nonsynonymous_SNV exonic T 0.6965 0.7023 0.7204 4.125 +6 112457471 LAMA4 G A 142 0.840455 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.7030 . intronic . 0.6959 0.7021 0.7197 2.125 +6 112460365 LAMA4 C T 1 0.00359425 8.015 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0138 nonsynonymous_SNV exonic D 0.0130 0.0139 0.0135 6.125 +6 112460511 LAMA4 C T 1 0.00159744 . MedGen:CN169374 not_specified Likely_benign 0.0003 . intronic . 0.0006 0.0004 0.0003 4 +6 112460541 LAMA4 G A 60 0.300519 . . . . 0.2639 . intronic . 0.27 0.2637 0.2578 4.5 +6 112461135 LAMA4 C T 1 0.000798722 . . . . 0.0020 . intronic . 0.0023 0.0019 0.0019 4 +6 112463253 LAMA4 T G 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 112463419 LAMA4 C T 1 0.000199681 1.299 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0002 0.0002 6.662e-05 11 +6 112463545 LAMA4 G A 1 0.000798722 . . . . 0.0005 . intronic . 0.0001 0.0004 0.0005 4 +6 112466086 LAMA4 C T 1 0.000798722 . MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype Benign/Likely_benign 1.503e-05 synonymous_SNV exonic . . 8.974e-06 0 5.25 +6 112469480 LAMA4 C T 1 0.000199681 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign 8.994e-05 synonymous_SNV exonic . . 9.867e-05 0.0001 7.75 +6 112471688 LAMA4 G C 64 0.3127 . . . . 0.2714 . intronic . 0.2797 0.2705 0.2618 4.5 +6 112476210 LAMA4 T C 63 0.3127 . . . . . . intronic . . . 0.2627 4.5 +6 112480041 LAMA4 A G 22 0.091254 . MedGen:CN169374 not_specified Benign 0.0987 synonymous_SNV exonic . 0.0881 0.0964 0.1301 1.5 +6 112486397 LAMA4 G A 2 0.000798722 4.719 MedGen:C3808935,OMIM:615235|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Dilated_cardiomyopathy_1JJ|not_specified|Cardiovascular_phenotype|not_provided Likely_benign 0.0023 nonsynonymous_SNV exonic T 0.0023 0.0023 0.0031 7.25 +6 112493774 LAMA4 C T 2 0.00139776 . . . . 0.0039 . intronic . 0.0053 0.0044 0.0037 4 +6 112493790 LAMA4 T C 2 0.000399361 . . . . 0.0007 . intronic . 0.0007 0.0006 0.0006 4 +6 112493872 LAMA4 A G 140 0.758387 -0.041 MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.6004 nonsynonymous_SNV exonic T 0.6020 0.5971 0.6020 4.125 +6 112496511 LAMA4 C A 6 0.08127 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0145 . intronic . 0.0110 0.0128 0.0112 2.125 +6 112496690 LAMA4 G C 2 0.0315495 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0004 . intronic . 0.0005 0.0006 0.0004 2.125 +6 112499245 LAMA4 G A 2 0.0329473 . . . . . . intronic . . . 0.0004 1.5 +6 112506375 LAMA4 G A 111 0.416933 . . . . . . intronic . . . 0.4486 1.5 +6 112506583 LAMA4 G T 168 0.900559 . . . . 0.7137 . intronic . 0.7115 0.7083 0.7025 1.5 +6 112508745 LAMA4 G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0003 synonymous_SNV exonic . 0.0005 0.0003 0.0004 4 +6 112508769 LAMA4 T G 214 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 1.0000 synonymous_SNV exonic . . 1 1 1.5 +6 112508770 LAMA4 G T 214 1 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 1 nonsynonymous_SNV exonic . . 1 1 3.5 +6 112512905 LAMA4 G A 28 0.316893 . MedGen:CN169374 not_specified Benign 0.1338 synonymous_SNV exonic . 0.1219 0.1299 0.1536 1.5 +6 112522852 LAMA4 G A 14 0.0309505 7.272 MedGen:CN169374 not_specified Benign 0.0609 nonsynonymous_SNV exonic T 0.0649 0.0648 0.0627 3.5 +6 112522893 LAMA4 A C 3 0.0207668 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0140 . intronic . 0.0103 0.0122 0.0107 2.125 +6 112528149 LAMA4 AAAACA AAAACAAAACAAAACG,A 3 . . . . . . . intronic . . . . 9 +6 112537497 LAMA4 A G 92 0.489417 . . . . . . intronic . . . 0.3337 1.5 +6 112537682 LAMA4 A G 9 0.0121805 . MedGen:C3808935,OMIM:615235|MedGen:CN169374 Dilated_cardiomyopathy_1JJ|not_specified Benign 0.0252 . intronic . 0.0195 0.0231 0.0220 2.125 +6 112574962 LOC101927640 C T 1 0.000199681 . . . . 1.501e-05 . ncRNA_intronic . . 8.99e-06 . 2.5 +6 112575203 LAMA4 C T 2 0.000399361 . MedGen:C3808935,OMIM:615235 Dilated_cardiomyopathy_1JJ Likely_benign 0.0001 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . . 3.604e-05 0.0001 7.75 +6 118880029 PLN C T 1 0.000599042 . . . . . . UTR5 . . . 0.0009 4 +6 121768710 GJA1 G A 4 0.034345 . MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN031062,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|Hypoplastic_left_heart_syndrome_1|not_specified Benign/Likely_benign 0.0126 synonymous_SNV exonic . 0.0148 0.0124 0.0153 -2.5 +6 121768751 GJA1 C T 4 0.00299521 0.820 MedGen:C0812437,OMIM:164200|MedGen:C2749477,OMIM:257850|MedGen:CN169374 Oculodentodigital_dysplasia|Oculodentodigital_dysplasia,_autosomal_recessive|not_specified Benign/Likely_benign 0.0123 nonsynonymous_SNV exonic T 0.0160 0.0138 0.0119 -0.5 +6 121769144 GJA1 T TA 3 0.0579073 . MedGen:C0039075,Orphanet:ORPHA90025|MedGen:C0812437,OMIM:164200|MedGen:CN031062,OMIM:241550|MedGen:CN169374 Syndactyly|Oculodentodigital_dysplasia|Hypoplastic_left_heart_syndrome_1|not_specified Benign 0.0447 . UTR3 . 0.0471 0.0426 0.0512 -2.5 +6 123539684 TRDN C T 174 0.761182 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . UTR3 . . . 0.7892 -2.5 +6 123539685 TRDN T C 106 0.465256 . MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Benign . . UTR3 . . . 0.4543 -2.5 +6 123539904 TRDN C T 106 0.375998 . MedGen:CN169374 not_specified Benign 0.5013 . intronic . 0.4593 0.4754 0.4510 -2.5 +6 123542784 TRDN C A 1 0.000199681 . . . . . . intronic . . . . 2.5 +6 123545159 TRDN GA G 110 0.50639 . . . . . . intronic . . . 0.4794 -2.5 +6 123580660 TRDN C T 119 0.335264 . . . . . . intronic . . . 0.5090 -2.5 +6 123580675 TRDN C T 40 0.319888 . . . . . . intronic . . . 0.1909 -2.5 +6 123581843 TRDN T A 1 0.00279553 . . . . . . intronic . . . . 0 +6 123588810 TRDN A G 1 0.00239617 . . . . 0.0053 . intronic . 0.0037 0.0039 0.0037 0 +6 123591138 TRDN T A 40 0.324481 . . . . . . intronic . . . 0.1903 -2.5 +6 123594217 TRDN G A 5 0.00219649 . . . . . . intronic . . . 0.0056 1 +6 123594426 TRDN G A 1 0.00119808 . . . . . . intronic . . . 0.0037 0 +6 123594510 TRDN T TA 40 0.262979 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2040 . splicing . 0.1584 0.1639 0.1900 -2.5 +6 123594634 TRDN G T 1 0.000399361 . . . . . . intronic . . . . 2.5 +6 123595869 TRDN A C 40 0.263179 . . . . . . intronic . 0.1708 . 0.1901 -2.5 +6 123599505 TRDN A C 2 0.00279553 . MedGen:CN169374 not_specified Benign/Likely_benign 0.0159 . intronic . 0.0092 0.0108 0.0081 -2.5 +6 123600184 TRDN G A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0002 . intronic . 0.0001 0.0001 0.0002 2.5 +6 123600356 TRDN T A 1 0.000199681 . . . . . . intronic . . . . 2.5 +6 123653127 TRDN A G 1 0.000798722 . . . . . . intronic . 0.0047 . 0.0052 0 +6 123658671 TRDN T C 58 0.222843 . . . . . . intronic . . . 0.3066 -2.5 +6 123658680 TRDN A G 104 0.305511 . . . . . . intronic . . . 0.4180 -2.5 +6 123658825 TRDN G T 40 0.29373 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign 0.1911 . intronic . 0.1503 0.1684 0.1899 -2.5 +6 123673628 TRDN C T 11 0.00898562 . . . . 0.0404 . UTR3\x3bUTR3 . 0.0399 0.0417 0.0465 -2.5 +6 123673672 TRDN A AT 1 0.00179712 . MedGen:CN169374 not_specified Uncertain_significance 0.0003 stoploss\x3bstoploss exonic\x3bexonic . 0.0006 0.0004 0.0004 0 +6 123687288 TRDN A C 202 0.939297 0.489 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.9106 nonsynonymous_SNV exonic T 0.9156 0.9089 0.9157 -0.5 +6 123687318 TRDN C T 1 0.000399361 2.244 . . . 3.063e-05 nonsynonymous_SNV exonic T . 2.69e-05 0.0001 4.5 +6 123687432 TRDN T C 202 0.954473 . . . . . . intronic . . . 0.9155 -2.5 +6 123696766 TRDN G T 32 0.147364 0.783 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1474 nonsynonymous_SNV exonic T 0.1188 0.1186 0.1296 2.5 +6 123698748 TRDN A G 1 0.000199681 . . . . . . intronic . . . . 2.5 +6 123699019 TRDN A C 23 0.169129 2.548 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1831 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.1454 0.1525 0.1686 0.5 +6 123699042 TRDN T C 91 0.272165 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4311 synonymous_SNV exonic . 0.3635 0.3904 0.3618 -2.5 +6 123702499 TRDN G A 64 0.476238 . MedGen:CN169374 not_specified Benign 0.3708 . intronic . 0.3270 0.3220 0.3635 0.5 +6 123702587 TRDN G A 1 0.00199681 . . . . . . intronic . 0.0026 . 0.0098 0 +6 123702642 TRDN T G 32 0.120807 . . . . . . intronic . . . 0.1308 0.5 +6 123703168 TRDN C T 32 0.120807 . . . . . . intronic . . . 0.1302 -2.5 +6 123714764 TRDN C T 13 0.0163738 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0819 . intronic . 0.0483 0.0498 0.0479 -2.5 +6 123714938 TRDN C T 1 0.00399361 . . . . . . intronic . . . 0 0 +6 123818365 TRDN T C 1 0.000199681 0.195 . . . . nonsynonymous_SNV exonic T . 0 0 4.5 +6 123833457 TRDN G C 178 0.843251 -0.289 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.8300 nonsynonymous_SNV exonic T 0.8615 0.8470 0.8672 -0.5 +6 123837214 TRDN C A 1 0.000199681 . . . . . . intronic . . . . 2.5 +6 123837416 TRDN G A 2 0.00279553 . . . . . . intronic . . . 6.682e-05 0 +6 123851590 TRDN G A 133 0.497804 . . . . . . intronic . . . 0.6416 -2.5 +6 123851610 TRDN G A 133 0.497404 . . . . 0.6181 . intronic . . 0.6339 0.6409 -2.5 +6 123851757 TRDN A C 1 0.000199681 . . . . 0.0001 . intronic . . 3.188e-05 . 2.5 +6 123868506 TRDN C T 4 0.00279553 4.510 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.0134 nonsynonymous_SNV exonic T 0.0099 0.0117 0.0138 -0.5 +6 123869607 TRDN G C 114 0.392971 -0.436 MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified|Cardiovascular_phenotype Benign 0.5608 nonsynonymous_SNV exonic T 0.5375 0.5166 0.5242 -0.5 +6 123869615 TRDN G A 1 0.000399361 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN230736 Catecholaminergic_polymorphic_ventricular_tachycardia|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0002 synonymous_SNV exonic . 0.0002 0.0003 0.0003 2.5 +6 123869769 TRDN TAA T 123 0.500599 . MedGen:C1631597,Orphanet:ORPHA3286|MedGen:CN169374 Catecholaminergic_polymorphic_ventricular_tachycardia|not_specified Benign 0.5243 . intronic . . 0.4867 0.5595 -2.5 +6 123892001 TRDN G A 78 0.495807 . . . . . . intronic . . . 0.3962 -2.5 +6 123892044 TRDN A G 23 0.0467252 . . . . 0.0944 . intronic . 0.0938 0.0900 0.0779 -2.5 +6 123892337 TRDN G A 90 0.24361 . . . . . . intronic . . . 0.3328 -2.5 +6 123957876 TRDN C T 1 0.000199681 . . . . 7.529e-05 . intronic . . 9.934e-05 6.676e-05 2.5 +6 129371106 LAMA2 C T 40 0.0706869 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.1232 synonymous_SNV exonic . 0.1164 0.1162 0.1159 -2.5 +6 129381026 LAMA2 C A 208 0.936701 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.9705 synonymous_SNV exonic . 0.9699 0.9694 0.9723 -2.5 +6 129419454 LAMA2 C T 1 0.000399361 4.755 . . . 8.993e-05 nonsynonymous_SNV exonic T . 8.956e-05 6.662e-05 4.5 +6 129419609 LAMA2 G A 1 0.00159744 . . . . 0.0043 . intronic . 0.0066 0.0044 0.0056 0 +6 129465020 LAMA2 G A 34 0.247404 . MedGen:CN169374 not_specified Benign 0.2016 . intronic . 0.1932 0.1890 0.1876 -2.5 +6 129468288 LAMA2 A T 34 0.352236 . . . . . . intronic . . . 0.1899 -2.5 +6 129486657 LAMA2 C A 1 0.00219649 . . . . . . intronic . . . 0.0093 0 +6 129486815 LAMA2 G A 1 0.000199681 0.655 . . . 0.0001 nonsynonymous_SNV exonic T . 0.0001 . 4.5 +6 129511373 LAMA2 T C 4 0.0565096 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0132 synonymous_SNV exonic . 0.0112 0.0120 0.0087 -2.5 +6 129513850 LAMA2 T A 1 0.00159744 5.154 MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign 0.0043 nonsynonymous_SNV exonic T 0.0070 0.0044 0.0056 2 +6 129514008 LAMA2 C T 1 0.000199681 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance 0.0012 . intronic . 0.0005 0.0011 0.0043 0 +6 129571330 LAMA2 G A 27 0.270966 -0.271 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.1346 nonsynonymous_SNV exonic T 0.14 0.1358 0.1374 -0.5 +6 129601231 LAMA2 C T 1 0.00319489 5.122 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related|not_provided Conflicting_interpretations_of_pathogenicity 0.0062 nonsynonymous_SNV exonic T 0.0064 0.0060 0.0076 2 +6 129609026 LAMA2 C T 1 0.000199681 6.647 . . . 0 nonsynonymous_SNV exonic T . 1.791e-05 . 4.5 +6 129609237 LAMA2 T C 1 0.0341454 . MedGen:CN169374 not_specified Benign 0.0007 . intronic . 0.0008 0.0007 0.0007 -2.5 +6 129612765 LAMA2 G T 1 0.0463259 2.558 MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0010 0.0009 0.0007 -0.5 +6 129612808 LAMA2 A G 48 0.313898 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.2253 synonymous_SNV exonic . 0.2272 0.2253 0.2232 -2.5 +6 129618791 LAMA2 T C 4 0.00359425 . MedGen:CN169374 not_specified Likely_benign 0.0169 . intronic . 0.0156 0.0164 0.0159 -2.5 +6 129618905 LAMA2 G A 1 0.000199681 6.101 MedGen:CN169374 not_specified Uncertain_significance 0.0001 nonsynonymous_SNV exonic T . 0.0002 0.0003 4.5 +6 129619059 LAMA2 G A 13 0.182508 . MedGen:CN169374 not_specified Benign 0.0843 . intronic . 0.0769 0.0800 0.0776 -2.5 +6 129621840 LAMA2 T A 1 0.000199681 . . . . 1.5e-05 . intronic . . 8.962e-06 . 2.5 +6 129622055 LAMA2 A G 111 0.303714 . MedGen:CN169374 not_specified Benign 0.4653 . intronic . 0.4524 0.4559 0.4500 -2.5 +6 129633970 LAMA2 TTG T 14 0.170128 . MedGen:CN169374 not_specified Benign 0.0834 . intronic . 0.0774 0.0778 0.0779 -2.5 +6 129634255 LAMA2 G A 20 0.355232 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.1228 . intronic . 0.1241 0.1228 0.1187 -2.5 +6 129635800 LAMA2 G A 7 0.120008 2.722 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0415 nonsynonymous_SNV exonic T 0.0469 0.0427 0.0398 -0.5 +6 129636606 LAMA2 T G 1 0.0081869 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity 0.0083 . intronic . 0.005 0.0071 0.0053 0 +6 129637037 LAMA2 G A 1 0.000199681 4.218 . . . 2.997e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 4.5 +6 129663463 LAMA2 ACTT A 6 0.00579073 . MedGen:CN169374 not_specified Uncertain_significance 0.0124 . intronic . 0.0143 0.0128 0.0153 -2.5 +6 129670438 LAMA2 T A 1 0.00279553 . MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Laminin_alpha_2-related_dystrophy|not_specified|not_provided Benign/Likely_benign 0.0083 . intronic . 0.0098 0.0083 0.0081 0 +6 129670476 LAMA2 C T 1 0.00299521 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0081 synonymous_SNV exonic . 0.0095 0.0081 0.0079 0 +6 129670493 LAMA2 C T 3 0.00279553 5.746 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0051 nonsynonymous_SNV exonic T 0.0044 0.0042 0.0027 2 +6 129670548 LAMA2 C T 13 0.0970447 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374 Merosin_deficient_congenital_muscular_dystrophy|not_specified Benign 0.0632 . intronic . 0.0613 0.0605 0.0544 -2.5 +6 129674561 LAMA2 TC T 13 0.116813 . . . . . . intronic . . . 0.0526 -2.5 +6 129687396 LAMA2 G A 4 0.0101837 2.753 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0290 nonsynonymous_SNV exonic T 0.0330 0.0301 0.0282 -0.5 +6 129691132 LAMA2 C G 13 0.0966454 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0631 synonymous_SNV exonic . 0.0615 0.0602 0.0541 -2.5 +6 129704460 LAMA2 C G 1 0.000399361 . . . . . . intronic . . . 6.665e-05 2.5 +6 129722389 LAMA2 A G 99 0.544529 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.4678 synonymous_SNV exonic . 0.4653 0.4610 0.4523 -2.5 +6 129722425 LAMA2 G A 99 0.543331 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.4658 synonymous_SNV exonic . 0.4641 0.4592 0.4496 -2.5 +6 129722453 LAMA2 C A 1 0.00499201 2.879 Human_Phenotype_Ontology:HP:0002126,MedGen:C0266464,Orphanet:ORPHA35981|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Polymicrogyria|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0171 nonsynonymous_SNV exonic T 0.0171 0.0184 0.0162 -0.5 +6 129722481 LAMA2 T G 1 0.000199681 3.035 MedGen:CN117977|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|Congenital_Muscular_Dystrophy,_LAMA2-related Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0005 0.0002 0.0001 2 +6 129724942 LAMA2 T A 96 0.539936 . MedGen:CN169374 not_specified Benign 0.4558 . intronic . 0.1772 0.4495 0.4399 -2.5 +6 129724944 LAMA2 C T 96 0.540735 . . . . 0.4560 . intronic . 0.0005 0.4497 0.4399 -2.5 +6 129724945 LAMA2 T G 96 0.540735 . . . . 0.4559 . intronic . 0.0049 0.4496 0.4397 -2.5 +6 129748836 LAMA2 G A 3 0.00359425 . . . . . . intronic . . . 0.0099 0 +6 129749070 LAMA2 T C 1 0.000199681 . . . . . . intronic . . . . 2.5 +6 129759802 LAMA2 C A 1 0.000199681 0.259 . . . 4.55e-05 nonsynonymous_SNV exonic T 0.0001 2.705e-05 . 4.5 +6 129762036 LAMA2 A G 3 0.00119808 -0.014 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN517202 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|not_provided Uncertain_significance 0.0013 nonsynonymous_SNV exonic T 0.0014 0.0015 0.0011 2 +6 129762062 LAMA2 G A 1 0.000399361 2.360 . . . 1.501e-05 nonsynonymous_SNV exonic T . 8.997e-06 . 4.5 +6 129762112 LAMA2 G A 30 0.182508 . MedGen:CN169374|MedGen:CN239326 not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.1514 synonymous_SNV exonic . 0.1457 0.1544 0.1698 -2.5 +6 129763248 LAMA2 G T 1 0.000199681 . . . . . . intronic . . . 6.673e-05 2.5 +6 129774077 LAMA2 C T 2 0.000399361 . . . . . . intronic . . . . 2.5 +6 129775470 LAMA2 T C 28 0.172324 . MedGen:CN169374 not_specified Benign 0.1434 . intronic . 0.1206 0.1333 0.1361 -2.5 +6 129781525 LAMA2 A T 3 0.00658946 . . . . . . intronic . . . 0.0157 -2.5 +6 129785391 LAMA2 T C 123 0.660942 . MedGen:CN169374 not_specified Benign 0.5793 . intronic . 0.5763 0.5776 0.5721 -2.5 +6 129796620 LAMA2 C T 97 0.408347 . . . . . . intronic . 0.4104 . 0.3859 -2.5 +6 129807629 LAMA2 C T 160 0.583866 7.378 MedGen:CN169374 not_specified Benign 0.7148 nonsynonymous_SNV exonic D 0.7265 0.7167 0.7152 1.5 +6 129807697 LAMA2 G A 1 0.000199681 5.529 . . . 2.999e-05 nonsynonymous_SNV exonic T 0.0001 8.978e-06 0 4.5 +6 129807699 LAMA2 G C 160 0.584265 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.7149 synonymous_SNV exonic . 0.7266 0.7169 0.7153 -2.5 +6 129807714 LAMA2 G A 46 0.403754 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign 0.2597 synonymous_SNV exonic . 0.2488 0.2591 0.2609 -2.5 +6 129813043 LAMA2 C T 1 0.000199681 . . . . 3.632e-05 . intronic . . 3.608e-05 0 2.5 +6 129813053 LAMA2 A G 10 0.111621 2.164 MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0759 nonsynonymous_SNV exonic T 0.0630 0.0674 0.0676 -0.5 +6 129813175 LAMA2 T C 1 0.0185703 . MedGen:C1263858,OMIM:607855,Orphanet:ORPHA258,SNOMED_CT:111503008|MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Merosin_deficient_congenital_muscular_dystrophy|Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0138 synonymous_SNV exonic . 0.0130 0.0144 0.0123 -2.5 +6 129813288 LAMA2 A G 1 0.000399361 . . . . . . intronic . . . . 2.5 +6 129813429 LAMA2 T TA 5 0.0129792 . . . . 0.0211 . intronic . 0.0208 0.0222 0.0264 -2.5 +6 129813697 LAMA2 G C 1 0.000199681 . . . . . . intronic . . . . 2.5 +6 129823857 LAMA2 C T 1 0.000199681 . MedGen:CN117977 Laminin_alpha_2-related_dystrophy Likely_benign 0.0003 synonymous_SNV exonic . 0.0003 0.0003 0.0003 2.5 +6 129826335 LAMA2 T C 1 0.00359425 . MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Benign 0.0135 . intronic . 0.0127 0.0139 0.0123 -2.5 +6 129826383 LAMA2 T C 1 0.000798722 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Conflicting_interpretations_of_pathogenicity 0.0010 synonymous_SNV exonic . 0.0006 0.0011 0.0005 0 +6 129826488 LAMA2 A G 1 0.0179712 . MedGen:CN117977|MedGen:CN169374|MedGen:CN239326 Laminin_alpha_2-related_dystrophy|not_specified|Congenital_Muscular_Dystrophy,_LAMA2-related Benign/Likely_benign 0.0001 synonymous_SNV exonic . 0.0005 0.0001 0.0001 -2.5 +6 129835530 LAMA2 G C 1 0.000399361 3.224 MedGen:CN117977|MedGen:CN169374 Laminin_alpha_2-related_dystrophy|not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0001 6.666e-05 4.5 +6 129835690 LAMA2 C A 1 0.000199681 2.437 . . . 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0002 0.0003 4.5 +6 129837320 LAMA2 C A 7 0.0091853 . MedGen:CN169374 not_specified Benign 0.0355 . intronic . 0.0415 0.0361 0.0334 -2.5 +6 129837549 LAMA2 A C 1 0.0509185 . MedGen:CN239326 Congenital_Muscular_Dystrophy,_LAMA2-related Likely_benign . . UTR3 . . . 0.0045 -2.5 +6 133596051 EYA4 A G 1 0.000599042 . . . . . . intronic . . . 0 4 +6 133703698 EYA4 T C 3 0.0922524 . . . . . . intronic . . . 0.0015 1.5 +6 133777690 EYA4 G A 2 0.000399361 . . . . 7.493e-05 . intronic . . 7.174e-05 6.665e-05 6.5 +6 133777842 EYA4 C G 1 0.000199681 . . . . . . intronic . . . 0.0001 6.5 +6 133782375 EYA4 T A 10 0.201278 . . . . . . intronic . 0.0669 . 0.0603 1.5 +6 133789728 EYA4 G A 73 0.409545 5.411 MedGen:CN169374|MedGen:CN230736|MedGen:CN239310|MedGen:CN239435 not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Benign/Likely_benign 0.3197 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.3128 0.3223 0.3103 1.5 +6 133789737 EYA4 C A 1 0.000199681 6.665 . . . 7.501e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D 0.0001 6.293e-05 . 6.5 +6 133802542 EYA4 G A 23 0.0283546 . . . . . . intronic . . . 0.0789 1.5 +6 133802711 EYA4 T C 1 0.000199681 4.879 . . . . nonsynonymous_SNV exonic D . . . 8.5 +6 133827354 TARID A G 136 0.722244 . . . . 0.5672 . ncRNA_exonic . 0.5607 0.5633 0.5620 -2.5 +6 133833915 EYA4 A G 1 0.000199681 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Uncertain_significance 2.997e-05 synonymous_SNV exonic . 0.0001 5.375e-05 0.0003 6.5 +6 133836430 TARID G A 6 0.00539137 . . . . 0.0165 . ncRNA_intronic . 0.0164 0.0174 0.0140 -2.5 +6 133844137 TARID C A 28 0.154752 . . . . . . ncRNA_intronic . . . 0.1403 3.5 +6 133844339 TARID G C 1 0.0373403 . . . . 0.0004 . ncRNA_intronic . 0.0012 0.0004 0.0006 -2.5 +6 133849789 TARID A G 129 0.770367 . . . . . . ncRNA_intronic . . . 0.5453 -2.5 +6 133849868 EYA4 C T 4 0.0081869 . Human_Phenotype_Ontology:HP:0001638,MedGen:C0878544,Orphanet:ORPHA167848,SNOMED_CT:85898001|MedGen:C1854368,OMIM:605362,Orphanet:ORPHA217622|MedGen:CN169374|MedGen:CN230736 Cardiomyopathy|Dilated_cardiomyopathy_1J|not_specified|Cardiovascular_phenotype Benign 0.0143 synonymous_SNV exonic . 0.0128 0.0124 0.0107 2.125 +6 133849966 TARID C T 95 0.471046 . MedGen:CN239310|MedGen:CN239435 Dilated_Cardiomyopathy,_Dominant|Nonsyndromic_Hearing_Loss,_Dominant Likely_benign 0.3777 . ncRNA_intronic . 0.3865 0.3807 0.3957 -2.5 +6 152443744 SYNE1 G T 25 0.076877 4.671 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1516 nonsynonymous_SNV exonic T 0.1398 0.1501 0.1644 3.5 +6 152443761 SYNE1 C T 6 0.0648962 1.625 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0386 nonsynonymous_SNV exonic T 0.0335 0.0350 0.0438 3.5 +6 152453291 SYNE1 G A 15 0.0257588 1.797 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0739 nonsynonymous_SNV exonic T 0.0745 0.0769 0.0768 3.5 +6 152456437 SYNE1 A C 1 0.00119808 . . . . . . intronic . . . . 4 +6 152456438 SYNE1 A C 2 0.00599042 . . . . . . intronic . . . 0.0135 1.5 +6 152457897 SYNE1 G A 1 0.000199681 . MedGen:CN169374 not_specified Uncertain_significance 3e-05 synonymous_SNV exonic . . 8.954e-06 . 6.5 +6 152461061 SYNE1 G A 99 0.444489 . MedGen:CN169374 not_specified Benign 0.3754 . intronic . 0.3941 0.3786 0.3605 1.5 +6 152461162 SYNE1 C T 1 0.000798722 4.590 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 nonsynonymous_SNV exonic T 0.0013 0.0008 0.0006 6 +6 152462480 SYNE1 C A 6 0.00559105 . MedGen:CN169374 not_specified Benign 0.0096 . intronic . 0.0097 0.0091 0.0057 5 +6 152462524 SYNE1 C T 1 0.0303514 . . . . . . intronic . . . 0.0001 1.5 +6 152464839 SYNE1 A G 123 0.689696 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5481 synonymous_SNV exonic . 0.5564 0.5516 0.5468 1.5 +6 152466578 SYNE1 A C 2 0.0567093 . MedGen:CN169374 not_specified Likely_benign 0.0066 . intronic . 0.0051 0.0049 0.0089 1.5 +6 152466582 SYNE1 A G 79 0.381589 . MedGen:CN169374 not_specified Benign 0.3237 . intronic . 0.3359 0.3244 0.3152 1.5 +6 152466674 SYNE1 T C 79 0.366214 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3171 synonymous_SNV exonic . 0.3301 0.3201 0.3112 1.5 +6 152469188 SYNE1 C G 81 0.399361 0.755 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3230 nonsynonymous_SNV exonic T 0.3373 0.3248 0.3163 3.5 +6 152469204 SYNE1 G A 2 0.00219649 2.924 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0071 nonsynonymous_SNV exonic T 0.0056 0.0069 0.0090 6 +6 152469331 SYNE1 C T 66 0.339457 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2768 synonymous_SNV exonic . 0.2944 0.2810 0.2778 1.5 +6 152469354 SYNE1 C T 1 0.000199681 6.962 . . . 6.012e-05 nonsynonymous_SNV exonic T . 5.387e-05 6.671e-05 8.5 +6 152469433 SYNE1 G C 1 0.000199681 -1.526 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0011 nonsynonymous_SNV exonic T 0.0006 0.0013 0.0004 6 +6 152470752 SYNE1 C A 22 0.115615 2.796 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0561 nonsynonymous_SNV exonic T 0.0548 0.0534 0.0441 3.5 +6 152472631 MIR3163 A G 13 0.024361 . . . . . . ncRNA_intronic . . . 0.0353 -2.5 +6 152472660 MIR3163 T A 14 0.0317492 . MedGen:CN169374 not_specified Benign 0.0469 . ncRNA_intronic . 0.0434 0.0434 0.0385 -2.5 +6 152473136 SYNE1 G T 1 0.000199681 5.447 . . . . nonsynonymous_SNV exonic T . . . 8.5 +6 152473181 SYNE1 T C 14 0.0365415 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0470 synonymous_SNV exonic . 0.0441 0.0439 0.0386 1.5 +6 152476985 MIR3163 T G 5 0.057508 . . . . . . ncRNA_intronic . . . . -2.5 +6 152497500 MIR3163 C T 12 0.0225639 . MedGen:CN169374 not_specified Benign 0.0593 . ncRNA_intronic . 0.0597 0.0615 0.0571 -2.5 +6 152501313 SYNE1 A G 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +6 152510429 SYNE1 G A 1 0.00119808 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0022 synonymous_SNV exonic . 0.0023 0.0019 0.0015 4 +6 152510573 MIR3163 G A 1 0.0680911 . . . . 0.0100 . ncRNA_intronic . 0.0085 0.0085 0.0085 -2.5 +6 152522926 MIR3163 G A 47 0.134585 . MedGen:CN169374 not_specified Benign 0.1721 . ncRNA_intronic . 0.1767 0.1719 0.1761 -2.5 +6 152523143 MIR3163 G A 141 0.645567 . . . . . . ncRNA_intronic . . . 0.5851 -2.5 +6 152529122 SYNE1 G A 3 0.00339457 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0170 synonymous_SNV exonic . 0.0177 0.0177 0.0191 1.5 +6 152529260 SYNE1 G A 29 0.155152 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1315 synonymous_SNV exonic . 0.1341 0.1321 0.1210 1.5 +6 152532702 SYNE1 T C 4 0.00459265 6.017 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0205 nonsynonymous_SNV exonic T 0.0171 0.0195 0.0139 3.5 +6 152534768 SYNE1 C T 5 0.0205671 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0328 synonymous_SNV exonic . 0.0271 0.0320 0.0266 1.5 +6 152534789 SYNE1 T C 6 0.0135783 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0347 synonymous_SNV exonic . 0.0302 0.0339 0.0432 1.5 +6 152534946 MIR3163 T A 214 0.997005 . . . . 0.9903 . ncRNA_intronic . 0.9890 0.9895 0.9895 -2.5 +6 152534947 MIR3163 T A 83 0.307508 . . . . . . ncRNA_intronic . . . 0.4554 -2.5 +6 152539350 MIR3163 C G 33 0.279153 . MedGen:CN169374 not_specified Benign 0.2177 . ncRNA_intronic . 0.2219 0.2111 0.2283 -2.5 +6 152539515 SYNE1 G A 1 0.000599042 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0012 synonymous_SNV exonic . 0.0019 0.0015 0.0009 4 +6 152539572 MIR3163 TA TAA,T 1 0.404952 . . . . 0.4495 . ncRNA_intronic . . 0.4266 0.4470 -2.5 +6 152540230 SYNE1 C T 1 0.000199681 3.652 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0001 nonsynonymous_SNV exonic T 0.0001 0.0001 6.662e-05 8.5 +6 152540278 SYNE1 A C 211 0.995607 -0.224 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.9886 nonsynonymous_SNV exonic T 0.9901 0.9878 0.9892 3.5 +6 152540357 MIR3163 T C 25 0.0696885 . . . . 0.0901 . ncRNA_intronic . 0.0913 0.0908 0.0813 -2.5 +6 152542234 MIR3163 G T 62 0.389377 . . . . . . ncRNA_intronic . . . 0.3177 -2.5 +6 152542548 MIR3163 A G 34 0.337859 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2204 . ncRNA_intronic . 0.2248 0.2135 0.2303 -2.5 +6 152545600 MIR3163 G A 5 0.00758786 . . . . 0.0259 . ncRNA_intronic . 0.0241 0.0276 0.0261 -2.5 +6 152545865 MIR3163 T C 43 0.124002 . . . . . . ncRNA_intronic . . . 0.1967 -2.5 +6 152555057 SYNE1 T A 3 0.00978435 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0259 synonymous_SNV exonic . 0.0259 0.0249 0.0260 1.5 +6 152555112 SYNE1 C T 35 0.208866 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2231 . intronic . 0.2167 0.2160 0.2297 1.5 +6 152555762 SYNE1 C T 1 0.000599042 . . . . 0.0008 . intronic . 0.0005 0.0010 0.0009 4 +6 152557178 SYNE1 G C 1 0.000798722 . . . . . . intronic . . . 0.0041 4 +6 152557220 SYNE1 T C 1 0.00239617 . . . . 0.0090 . intronic . 0.0098 0.0092 0.0100 4 +6 152558111 SYNE1 T TA 35 0.210264 . MedGen:CN169374 not_specified Likely_benign 0.2220 . intronic . 0.2170 0.2156 0.2290 1.5 +6 152563312 SYNE1 T C 4 0.00519169 . . . . . . intronic . . . 0.0066 5 +6 152565669 SYNE1 C T 2 0.00439297 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|Human_Phenotype_Ontology:HP:0012443,MedGen:C4021085|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Abnormality_of_brain_morphology|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0007 . intronic . 0.0007 0.0008 0.0005 4 +6 152570274 SYNE1 A G 19 0.0607029 . . . . 0.0782 . intronic . 0.0780 0.0786 0.0692 1.5 +6 152570415 SYNE1 G A 109 0.680711 . MedGen:CN169374 not_specified Benign 0.6208 . intronic . 0.6098 0.6133 0.6467 1.5 +6 152577752 SYNE1 T C 9 0.0764776 . MedGen:CN169374 not_specified Benign 0.0622 . intronic . 0.0598 0.0592 0.0500 1.5 +6 152589378 SYNE1 A C 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 152590434 SYNE1 A G 1 0.000798722 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Likely_benign 0.0019 . intronic . 0.0015 0.0016 0.0025 4 +6 152599173 SYNE1 C T 2 0.00439297 . . . . 0.0073 . intronic . 0.0040 0.0064 0.0074 4 +6 152603139 SYNE1 T C 11 0.0722843 . MedGen:CN169374 not_specified Benign 0.0665 . intronic . 0.0645 0.0636 0.0621 1.5 +6 152605242 SYNE1 C T 1 0.000199681 . . . . 2.999e-05 synonymous_SNV exonic . . 1.794e-05 6.662e-05 6.5 +6 152614766 SYNE1 G C 1 0.000199681 1.546 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.96e-06 . 8.5 +6 152615042 SYNE1 G T 5 0.0473243 . . . . . . intronic . . . 0.0550 1.5 +6 152615200 SYNE1 G A 41 0.147764 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1932 synonymous_SNV exonic . 0.1917 0.1932 0.1927 1.5 +6 152621818 SYNE1 G A 2 0.000399361 . MedGen:CN169374 not_specified Uncertain_significance 0.0006 synonymous_SNV exonic . 0.0010 0.0007 0.0008 4 +6 152621955 SYNE1 A G 2 0.00379393 . . . . 0.0109 . intronic . 0.0126 0.0109 0.0124 1.5 +6 152623056 SYNE1 T A 1 0.000199681 5.841 . . . 1.507e-05 nonsynonymous_SNV exonic T . 8.961e-06 . 8.5 +6 152629586 SYNE1 G A 116 0.457468 . MedGen:CN169374 not_specified Benign 0.5309 . intronic\x3bintronic . 0.5247 0.5339 0.5535 1.5 +6 152629617 SYNE1 C T 73 0.304313 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.3227 . intronic\x3bintronic . 0.3235 0.3209 0.3338 1.5 +6 152629631 SYNE1 C T 2 0.038139 6.154 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0080 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic T 0.0071 0.0066 0.0075 1.5 +6 152629772 SYNE1 GAA GAAA,GA,G 2 0.014377 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0271 . intronic\x3bintronic . . 0.0205 0.0128 1.5 +6 152629815 SYNE1 C T 178 0.884784 . . . . 0.8021 . intronic\x3bintronic . 0.7880 0.7998 0.8174 1.5 +6 152630946 SYNE1 C T 25 0.117612 . MedGen:CN169374 not_specified Benign 0.1005 . intronic\x3bintronic . 0.0981 0.0954 0.0928 1.5 +6 152631802 SYNE1 C CT 3 0.00678914 . . . . 0.0228 . intronic . 0.0168 0.0189 0.0099 1.5 +6 152632033 SYNE1 G A 2 0.0443291 . MedGen:CN169374 not_specified Benign 0.0283 . intronic . 0.0235 0.0255 0.0316 1.5 +6 152638192 SYNE1 C T 4 0.00539137 . . . . . . intronic . . . 0.0119 1.5 +6 152639184 SYNE1 C G 8 0.0864617 . MedGen:CN169374 not_specified Benign 0.0390 . intronic . 0.0463 0.0404 0.0377 1.5 +6 152639350 SYNE1 C T 1 0.000199681 6.336 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.958e-06 0 8.5 +6 152640091 SYNE1 C T 1 0.000399361 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0004 synonymous_SNV exonic . 0.0006 0.0004 0.0002 4 +6 152640110 SYNE1 G A 5 0.0463259 2.539 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0289 nonsynonymous_SNV exonic T 0.0272 0.0292 0.0336 3.5 +6 152640160 SYNE1 T A 1 0.000199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy Likely_benign 4.641e-05 . intronic . . 4.485e-05 . 6.5 +6 152642331 SYNE1 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 152642795 SYNE1 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 152643070 SYNE1 C T 9 0.0107827 . MedGen:CN169374 not_specified Likely_benign 0.0366 . intronic . 0.0409 0.0391 0.0350 1.5 +6 152646279 SYNE1 G C 7 0.0623003 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0298 synonymous_SNV exonic . 0.0280 0.0305 0.0334 1.5 +6 152647388 SYNE1 A G 1 0.000199681 . . . . 3e-05 . intronic . . 2.691e-05 . 6.5 +6 152647681 SYNE1 A T 156 0.814696 1.978 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7581 nonsynonymous_SNV exonic T 0.7494 0.7562 0.7754 3.5 +6 152650812 SYNE1 G A 6 0.0115815 . . . . . . intronic . . . 0.0321 1.5 +6 152650903 SYNE1 G A 7 0.033746 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0386 synonymous_SNV exonic . 0.0436 0.0396 0.0382 1.5 +6 152651521 SYNE1 C T 1 0.000199681 4.083 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.952e-06 . 8.5 +6 152651759 SYNE1 C G 18 0.165136 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0592 synonymous_SNV exonic . 0.0621 0.0600 0.0639 1.5 +6 152652034 SYNE1 A T 156 0.803315 -5.477 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7577 nonsynonymous_SNV exonic T 0.7490 0.7561 0.7745 3.5 +6 152652599 SYNE1 G A 7 0.0335463 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0388 synonymous_SNV exonic . 0.0437 0.0397 0.0385 1.5 +6 152653037 SYNE1 T C 93 0.413139 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4696 . intronic . 0.4607 0.4617 0.4722 1.5 +6 152658062 SYNE1 C G 2 0.0123802 6.665 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0358 nonsynonymous_SNV exonic T 0.0326 0.0357 0.0318 3.5 +6 152658141 SYNE1 C A 13 0.0876597 2.991 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0738 nonsynonymous_SNV exonic T . 0.0749 0.0693 3.5 +6 152658142 SYNE1 T C 154 0.793131 0.371 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.7478 nonsynonymous_SNV exonic T 0.7194 0.7459 0.7642 3.5 +6 152658191 SYNE1 T C 155 0.790136 . MedGen:CN169374 not_specified Benign 0.7529 . intronic . 0.7401 0.7471 0.7640 1.5 +6 152658192 SYNE1 G A 1 0.000599042 . . . . 0.0002 . intronic . . 0.0002 0 4 +6 152658216 SYNE1 A G 82 0.242212 . . . . . . intronic . . . 0.4137 1.5 +6 152660310 SYNE1 A G 64 0.157149 . . . . . . intronic . . . 0.3504 1.5 +6 152660451 SYNE1 G A 30 0.0732827 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.1418 synonymous_SNV exonic . 0.1315 0.1438 0.1464 1.5 +6 152665261 SYNE1 C A 129 0.545527 0.235 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6031 nonsynonymous_SNV exonic T 0.6178 0.6078 0.6094 3.5 +6 152665303 SYNE1 C T 1 0.0269569 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0021 synonymous_SNV exonic . 0.0019 0.0010 0.0006 1.5 +6 152665374 SYNE1 C A 1 0.00938498 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0020 . intronic . 0.0013 0.0008 0.0005 4 +6 152668211 SYNE1 A G 5 0.00539137 6.385 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0170 nonsynonymous_SNV exonic T 0.0151 0.0161 0.0147 3.5 +6 152668215 SYNE1 C T 3 0.00479233 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0133 synonymous_SNV exonic . 0.0130 0.0133 0.0113 1.5 +6 152668272 SYNE1 C T 3 0.00239617 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0076 synonymous_SNV exonic . 0.0080 0.0077 0.0079 4 +6 152671475 SYNE1 A C 130 0.58746 . MedGen:CN169374 not_specified Benign 0.6003 . intronic . 0.6098 0.6049 0.6074 1.5 +6 152671499 SYNE1 A T 1 0.000998403 . . . . 0.0053 . intronic . 0.0043 0.0043 0.0043 4 +6 152671865 SYNE1 T G 4 0.0543131 2.231 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign 0.0189 nonsynonymous_SNV exonic T 0.0201 0.0191 0.0181 3.5 +6 152671919 SYNE1 G GA 130 0.56889 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5945 . intronic . . 0.5914 0.6112 1.5 +6 152671975 SYNE1 A G 130 0.571286 . . . . . . intronic . . . 0.6067 1.5 +6 152673147 SYNE1 G A 130 0.565895 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6003 . intronic . 0.6134 0.6040 0.6083 1.5 +6 152673312 SYNE1 C T 1 0.000399361 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0008 synonymous_SNV exonic . 0.0002 0.0008 0.0015 4 +6 152673519 SYNE1 A C 130 0.567492 . MedGen:CN169374 not_specified Benign 0.6002 . intronic . 0.6127 0.6036 0.6077 1.5 +6 152673543 SYNE1 C CT,CTT 130 0.00838658 . . . . . . intronic . . . 0.0009 6 +6 152674464 SYNE1 C A 1 0.00139776 2.840 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0067 nonsynonymous_SNV exonic T 0.0073 0.0077 0.0059 6 +6 152674524 SYNE1 T C 1 0.000399361 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0014 synonymous_SNV exonic . 0.0014 0.0015 0.0024 4 +6 152675854 SYNE1 A G 130 0.568291 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6001 synonymous_SNV\x3bsynonymous_SNV exonic\x3bexonic . 0.6133 0.6049 0.6074 1.5 +6 152679518 SYNE1 C T 6 0.0071885 3.946 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0156 nonsynonymous_SNV exonic T 0.02 0.0165 0.0131 3.5 +6 152679594 SYNE1 A G 3 0.00459265 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0159 synonymous_SNV exonic . 0.0176 0.0144 0.0133 1.5 +6 152679729 SYNE1 G A 33 0.143371 . . . . . . intronic . . . 0.1691 1.5 +6 152683278 SYNE1 A G 1 0.00139776 . . . . 0.0058 . intronic . 0.0052 0.0056 0.0051 4 +6 152683413 SYNE1 G T 148 0.659145 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.6652 synonymous_SNV exonic . 0.6806 0.6701 0.6773 1.5 +6 152686071 SYNE1 A G 2 0.00199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 synonymous_SNV exonic . 0.0064 0.0062 0.0056 4 +6 152686090 SYNE1 G T 2 0.00199681 2.251 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Conflicting_interpretations_of_pathogenicity 0.0065 nonsynonymous_SNV exonic T 0.0064 0.0062 0.0057 6 +6 152688366 SYNE1 G A 1 0.000199681 0.385 MedGen:CN169374 not_specified Uncertain_significance 0.0002 nonsynonymous_SNV exonic T . 0.0001 0.0001 8.5 +6 152688567 SYNE1 C T 192 0.863618 . MedGen:CN169374 not_specified Benign 0.9158 . intronic . 0.9177 0.9217 0.9298 1.5 +6 152690559 SYNE1 G A 103 0.410942 . MedGen:CN169374 not_specified Benign 0.5326 . intronic . 0.5455 0.5389 0.5421 1.5 +6 152694184 SYNE1 T C 103 0.468251 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.5328 synonymous_SNV exonic . 0.5458 0.5394 0.5421 1.5 +6 152694190 SYNE1 T C 1 0.000599042 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0020 synonymous_SNV exonic . 0.0015 0.0016 0.0015 4 +6 152697675 SYNE1 G T 2 0.00678914 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0140 synonymous_SNV exonic . 0.0121 0.0128 0.0137 1.5 +6 152697706 SYNE1 C T 111 0.529153 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4739 . intronic . 0.4606 0.4658 0.4662 1.5 +6 152702434 SYNE1 C T 1 0.000199681 2.351 . . . 3.007e-05 nonsynonymous_SNV exonic T . 2.753e-05 0 8.5 +6 152708310 SYNE1 G A 62 0.249002 0.486 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.2229 nonsynonymous_SNV exonic T 0.2190 0.2241 0.2138 3.5 +6 152708366 SYNE1 G C 1 0.000199681 . . . . 2.997e-05 synonymous_SNV exonic . . 1.794e-05 . 6.5 +6 152708472 SYNE1 C T 1 0.000199681 1.040 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.97e-06 . 8.5 +6 152711395 SYNE1 T A 91 0.561901 . MedGen:CN169374 not_specified Benign 0.3850 . intronic . 0.3801 0.3819 0.3795 1.5 +6 152711422 SYNE1 C T 1 0.000199681 4.088 . . . 1.5e-05 nonsynonymous_SNV exonic T . 8.973e-06 . 8.5 +6 152711428 SYNE1 C T 1 0.00319489 -0.289 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374|MedGen:CN517202 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified|not_provided Benign/Likely_benign 0.0090 nonsynonymous_SNV exonic T 0.0098 0.0085 0.0113 3.5 +6 152712440 SYNE1 G T 3 0.00159744 0.895 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0036 nonsynonymous_SNV exonic T 0.0035 0.0039 0.0031 6 +6 152712714 SYNE1 G A 32 0.169728 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0012 . intronic . . 0.0046 0.0009 1.5 +6 152712715 SYNE1 G A 32 0.169728 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign . . intronic . . . . 1.5 +6 152712730 SYNE1 G A 70 0.406949 . . . . 0.0053 . intronic . . 0.0074 0.0181 1.5 +6 152712752 SYNE1 C T 91 0.558706 . MedGen:CN169374 not_specified Benign 0.2545 . intronic . 0.2696 0.3096 0.3741 1.5 +6 152717896 SYNE1 T C 8 0.014377 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0362 . intronic . 0.0336 0.0377 0.0336 1.5 +6 152718008 SYNE1 T C 1 0.000199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Conflicting_interpretations_of_pathogenicity 0.0009 synonymous_SNV exonic . 0.0006 0.0010 0.0006 4 +6 152719792 SYNE1 C A 1 0.000199681 6.234 . . . 2.998e-05 nonsynonymous_SNV exonic T . 1.791e-05 . 8.5 +6 152722228 SYNE1 A G 91 0.519768 . MedGen:CN169374 not_specified Benign 0.3863 . intronic . 0.3803 0.3816 0.3792 1.5 +6 152725470 SYNE1 TAACTA T 1 0.071885 . . . . 0.0068 . intronic . 0.0035 0.0052 0.0064 1.5 +6 152728281 SYNE1 G A 1 0.000199681 . . . . 4.498e-05 synonymous_SNV exonic . . 2.69e-05 . 6.5 +6 152730221 SYNE1 G A 1 0.000199681 . . . . 4.496e-05 synonymous_SNV exonic . 0.0001 2.687e-05 . 6.5 +6 152730736 SYNE1 A G 2 0.000998403 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0023 synonymous_SNV exonic . 0.0026 0.0024 0.0016 4 +6 152737559 SYNE1 G A 1 0.000199681 7.182 . . . 1.498e-05 stopgain exonic . . 1.792e-05 . 11.5 +6 152740681 SYNE1 T TA 52 0.35024 . . . . 0.3240 . intronic . 0.2008 0.3715 0.2080 1.5 +6 152746593 SYNE1 A T 20 0.0327476 -0.505 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0553 nonsynonymous_SNV exonic T 0.0516 0.0539 0.0622 3.5 +6 152749373 SYNE1 G A 1 0.000199681 1.031 MedGen:CN169374 not_specified Uncertain_significance 1.503e-05 nonsynonymous_SNV exonic T 0.0001 8.973e-06 . 8.5 +6 152749380 SYNE1 T G 1 0.000199681 . . . . 1.502e-05 synonymous_SNV exonic . . 8.97e-06 . 6.5 +6 152749494 SYNE1 C T 1 0.000599042 -0.742 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0016 0.0015 0.0015 6 +6 152749540 SYNE1 C T 1 0.00239617 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign/Likely_benign 0.0077 . intronic . 0.0083 0.0073 0.0097 4 +6 152751286 SYNE1 A T 1 0.000199681 . . . . 0.0001 synonymous_SNV exonic . . 0.0001 . 6.5 +6 152751300 SYNE1 T C 1 0.000199681 0.241 . . . 0.0002 nonsynonymous_SNV exonic T 0.0001 0.0001 6.674e-05 8.5 +6 152751367 SYNE1 A C 1 0.000199681 . . . . 0.0021 . intronic . 0.0010 0.0017 0.0041 4 +6 152751398 SYNE1 CA C 5 0.028754 . . . . . . intronic . . . 0.0300 1.5 +6 152751426 SYNE1 A C 60 0.252196 . . . . . . intronic . . . 0.2165 1.5 +6 152751558 SYNE1 C T 102 0.595847 . . . . . . intronic . . . 0.4107 1.5 +6 152757122 SYNE1 A T 1 0.000199681 2.694 . . . . nonsynonymous_SNV exonic D . 8.956e-06 . 8.5 +6 152757224 SYNE1 G A 3 0.00239617 6.572 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0041 nonsynonymous_SNV exonic D 0.0057 0.0043 0.0041 8 +6 152763191 SYNE1 C T 1 0.00219649 . MedGen:CN169374 not_specified Likely_benign 0.0014 . intronic . 0.0008 0.0012 0.0005 4 +6 152763258 SYNE1 T C 8 0.0127796 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0227 synonymous_SNV exonic . 0.0184 0.0203 0.0275 1.5 +6 152763413 SYNE1 T C 1 0.000199681 . . . . 1.521e-05 . intronic . . 9.406e-06 . 6.5 +6 152765579 SYNE1 C T 4 0.00678914 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0132 synonymous_SNV exonic . 0.0124 0.0135 0.0130 1.5 +6 152768796 SYNE1 T G 108 0.597644 . MedGen:CN169374 not_specified Benign 0.4364 . intronic . 0.4338 0.4303 0.4282 1.5 +6 152770645 SYNE1 G A 14 0.0185703 . . . . 0.0360 . intronic . 0.0345 0.0326 0.0394 1.5 +6 152771749 SYNE1 T C 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 152771789 SYNE1 G T 1 0.000199681 4.036 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.958e-06 . 8.5 +6 152771849 SYNE1 G A 26 0.048722 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 synonymous_SNV exonic . 0.0680 0.0663 0.0729 1.5 +6 152772239 SYNE1 A C 1 0.000199681 -0.914 . . . . nonsynonymous_SNV exonic T . . . 8.5 +6 152772264 SYNE1 A G 108 0.607228 3.767 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4291 nonsynonymous_SNV exonic D 0.4295 0.4232 0.4198 3.5 +6 152774695 SYNE1 G A 1 0.000199681 0.117 . . . 4.502e-05 . intronic T 0.0001 3.581e-05 6.66e-05 6.5 +6 152774917 SYNE1 A G 108 0.607428 . . . . . . intronic . . . 0.4204 1.5 +6 152776540 SYNE1 T C 6 0.0061901 . . . . 0.0144 . intronic . 0.0134 0.0131 0.0095 1.5 +6 152776750 SYNE1 G A 53 0.301518 . MedGen:CN169374 not_specified Benign 0.2402 . intronic . 0.2298 0.2380 0.2265 1.5 +6 152777095 SYNE1 A C 26 0.0433307 0.696 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.0687 nonsynonymous_SNV exonic T 0.0679 0.0664 0.0734 3.5 +6 152777200 SYNE1 A G 2 0.00339457 . . . . 0.0090 . intronic . 0.0070 0.0087 0.0079 4 +6 152777236 SYNE1 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +6 152779932 SYNE1 C T 1 0.000399361 1.805 MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998 Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant Uncertain_significance 4.499e-05 nonsynonymous_SNV exonic T . 3.59e-05 6.664e-05 8.5 +6 152779933 SYNE1 G A 8 0.0115815 4.640 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0333 nonsynonymous_SNV exonic T 0.0312 0.0339 0.0313 3.5 +6 152782933 SYNE1 G A 108 0.602436 . . . . . . intronic . . . 0.4207 1.5 +6 152784054 SYNE1 G A 29 0.248802 . MedGen:CN169374 not_specified Likely_benign 0.1199 . intronic . 0.1307 0.1179 0.1178 1.5 +6 152784075 SYNE1 C T 29 0.248802 . MedGen:CN169374 not_specified Likely_benign 0.1198 . intronic . 0.1305 0.1178 0.1178 1.5 +6 152784621 SYNE1 T C 1 0.00399361 4.526 . . . 0.0085 nonsynonymous_SNV exonic T 0.0080 0.0078 0.0087 6 +6 152787026 SYNE1 G A 2 0.00119808 . . . . . . intronic . . . 0.0019 4 +6 152793375 SYNE1 TA T 25 0.195487 . . . . . . intronic . . . 0.1112 1.5 +6 152793412 SYNE1 C A 168 0.855232 . MedGen:CN169374 not_specified Benign 0.7166 . intronic . 0.7044 0.7070 0.7065 1.5 +6 152793572 SYNE1 T A 82 0.483427 . MedGen:CN169374 not_specified Benign 0.3388 . intronic . 0.0162 0.3152 0.3368 1.5 +6 152793575 SYNE1 A G 108 0.602236 . MedGen:CN169374 not_specified Benign 0.4256 . intronic . 0.1459 0.4045 0.4136 1.5 +6 152793628 SYNE1 C T 14 0.028754 . . . . . . intronic . . . 0.0394 1.5 +6 152806014 SYNE1 C T 2 0.00199681 6.660 Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Likely_benign 0.0015 nonsynonymous_SNV exonic D 0.0010 0.0017 0.0008 8 +6 152809527 SYNE1 A T 108 0.589257 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|not_specified Benign 0.4370 . intronic . 0.4328 0.4257 0.4250 1.5 +6 152809540 SYNE1 A G 1 0.000199681 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Conflicting_interpretations_of_pathogenicity 0.0009 synonymous_SNV exonic . 0.0010 0.0007 0.0013 4 +6 152809699 SYNE1 A C 1 0.000199681 . . . . . . intronic . . . 6.662e-05 6.5 +6 152826456 SYNE1 T C 1 0.000199681 3.348 . . . 1.504e-05 nonsynonymous_SNV exonic D . 8.968e-06 . 8.5 +6 152831295 SYNE1 G A 1 0.000199681 . . . . 2.999e-05 . intronic . . 4.491e-05 0.0001 6.5 +6 152832851 SYNE1 T C 1 0.00279553 . . . . . . intronic . . . 0.0118 1.5 +6 152847284 SYNE1 A G 1 0.00279553 . Human_Phenotype_Ontology:HP:0001251,MedGen:C0007758,SNOMED_CT:85102008|MedGen:C0410189,Orphanet:ORPHA261,SNOMED_CT:111508004|MedGen:C1853116,OMIM:610743,Orphanet:ORPHA88644|MedGen:C2751807,OMIM:612998|MedGen:CN169374 Cerebellar_ataxia|Emery-Dreifuss_muscular_dystrophy|Spinocerebellar_ataxia,_autosomal_recessive_8|Emery-Dreifuss_muscular_dystrophy_4,_autosomal_dominant|not_specified Benign/Likely_benign 0.0119 synonymous_SNV exonic . 0.0114 0.0112 0.0117 1.5 +6 152847335 SYNE1 G A 74 0.264177 . MedGen:CN169374 not_specified Benign 0.3249 . intronic . 0.3233 0.3243 0.3317 1.5 +7 35271037 TBX20 C T 2 0.00339457 . . . . . . intronic . . . 0.0074 0 +7 35271254 TBX20 T C 45 0.0888578 . . . . . . intronic . 0.1782 . 0.1482 -2.5 +7 35280480 TBX20 T C 1 0.000199681 . . . . 1.515e-05 . intronic . . 8.989e-06 . 2.5 +7 35280539 TBX20 G T 1 0.0305511 . MedGen:CN230736 Cardiovascular_phenotype Benign 0.0005 synonymous_SNV exonic . 0.0006 0.0005 0.0008 -2.5 +7 35280693 TBX20 C T 85 0.34365 . . . . 0.3824 . intronic . 0.3906 0.3819 0.3926 3.5 +7 35288276 TBX20 T C 85 0.34365 . . . . 0.3817 . intronic . 0.3907 0.3819 0.3924 3.5 +7 35293158 TBX20 G C 1 0.000199681 6.806 . . . 1.557e-05 nonsynonymous_SNV exonic D . 8.988e-06 . 6.5 +7 35293193 TBX20 A G 154 0.69389 . MedGen:C1969657,OMIM:611363|MedGen:CN230736 Atrial_septal_defect_4|Cardiovascular_phenotype Benign 0.6791 synonymous_SNV exonic . 0.6892 0.6824 0.6756 -2.5 +7 35293222 TBX20 T A 3 0.000599042 2.411 . . . 0.0003 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0003 2 +7 81579832 CACNA2D1 T TA 21 0.0621006 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.0992 . intronic . 0.0808 0.0996 0.0856 -2.5 +7 81588636 CACNA2D1 G A 64 0.222644 . MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Benign 0.3047 synonymous_SNV exonic . 0.3153 0.3061 0.3054 -2.5 +7 81588738 CACNA2D1 G A 1 0.00139776 . . . . . . intronic . . . 0.0003 0 +7 81591114 CACNA2D1 GTAATGATTATAACAGTATATACAATTTCT G 145 0.698682 . . . . . . intronic . . . 0.6872 -2.5 +7 81591409 CACNA2D1 G A 8 0.00778754 . . . . . . intronic . . . 0.0224 -2.5 +7 81591716 CACNA2D1 T G 66 0.230232 . . . . 0.3482 . intronic . 0.3168 0.3118 0.3041 -2.5 +7 81591827 CACNA2D1 A T 1 0.000199681 . . . . 6.505e-05 . intronic . . 6.958e-05 . 2.5 +7 81593454 CACNA2D1 G A 56 0.257987 . . . . 0.2096 . intronic\x3bintronic . 0.2076 0.2123 0.1978 -2.5 +7 81593508 CACNA2D1 G A 1 0.000199681 . . . . 1.502e-05 . intronic\x3bintronic . . 2.702e-05 6.676e-05 2.5 +7 81594860 CACNA2D1 C T 1 0.000399361 . . . . 4.527e-05 . intronic . . 7.237e-05 0 2.5 +7 81596639 CACNA2D1 A G 1 0.000199681 . . . . . . intronic . . . . 2.5 +7 81598129 CACNA2D1 T C 2 0.00858626 . . . . . . intronic . . . 0.0144 -2.5 +7 81599131 CACNA2D1 G A 2 0.000798722 . . . . . . intronic . . . 6.704e-05 0 +7 81600168 CACNA2D1 A G 1 0.000199681 . . . . . . intronic . . . . 2.5 +7 81601231 CACNA2D1 C G 74 0.236422 . . . . 0.3715 . intronic . 0.3844 0.375 0.3736 -2.5 +7 81603871 CACNA2D1 G GAA 28 0.096845 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1140 . intronic . 0.0922 0.0903 0.0838 -2.5 +7 81603945 CACNA2D1 AT A 154 0.678514 . . . . . . intronic . . . 0.7265 -2.5 +7 81612766 CACNA2D1 T C 1 0.000199681 . . . . . . intronic . . . . 2.5 +7 81634681 CACNA2D1 G T 1 0.000199681 . . . . . . intronic . . . . 2.5 +7 81634822 CACNA2D1 GA AA,G 1 0.20028 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.3124 . intronic . . 0.2613 0.0468 -2.5 +7 81635221 CACNA2D1 T A 1 0.000199681 . . . . . . intronic . . . . 2.5 +7 81635245 CACNA2D1 T C 1 0.00399361 . . . . . . intronic . . . 0.0053 0 +7 81641500 CACNA2D1 G A 1 0.00319489 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0122 synonymous_SNV exonic . 0.0083 0.0109 0.0135 -2.5 +7 81641570 LOC101927356 G GAA,GAAA,GAAAA 1 0.221046 . MedGen:CN169374 not_specified Benign 0.1156 . ncRNA_intronic . . 0.1431 0.2453 -2.5 +7 81641571 LOC101927356 A G 2 0.00159744 . MedGen:CN169374 not_specified Likely_benign 0.0720 . ncRNA_intronic . . 0.0079 0.0002 -2.5 +7 81642949 LOC101927356 C T 102 0.544728 . . . . . . ncRNA_intronic . . . 0.3871 -2.5 +7 81643813 LOC101927356 T C 3 0.00359425 . MedGen:CN169374 not_specified Benign 0.0073 . ncRNA_intronic . 0.0079 0.0075 0.0069 0 +7 81643836 LOC101927356 A C 1 0.000199681 . . . . 0.0002 . ncRNA_intronic . . 0.0002 . 2.5 +7 81667468 CACNA2D1 C T 8 0.019369 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374|MedGen:CN230736 Brugada_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0502 synonymous_SNV exonic . 0.0448 0.0474 0.0631 -2.5 +7 81667579 CACNA2D1 A G 3 0.00239617 . . . . 0.0059 . intronic . 0.0063 0.0061 0.0061 0 +7 81689726 CACNA2D1 C T 1 0.000199681 . . . . 1.52e-05 . intronic . . 2.714e-05 . 2.5 +7 81693768 CACNA2D1 T C 29 0.091853 . . . . . . intronic . . . 0.0761 -2.5 +7 81695859 CACNA2D1 G A 4 0.0071885 . MedGen:CN169374 not_specified Likely_benign 6.77e-05 . intronic . . 0.0057 0.0011 1 +7 81746295 CACNA2D1 A G 1 0.00279553 . . . . . . intronic . . . 0.0083 0 +7 81765930 CACNA2D1 T G 1 0.000399361 . . . . 0.0003 . intronic . 0.0001 0.0003 0.0004 2.5 +7 81765996 CACNA2D1 C CA 20 0.125399 . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005|MedGen:CN169374 Brugada_syndrome|not_specified Benign 0.1348 . intronic . 0.0985 0.1094 0.0809 -2.5 +7 81765997 CACNA2D1 A G 1 0.000199681 . . . . 0 . intronic . . 0 . 2.5 +7 81799966 CACNA2D1 G A 4 0.0139776 . . . . 0.0244 . intronic . 0.0274 0.0265 0.0216 -2.5 +7 81799990 CACNA2D1 T C 4 0.0609026 . . . . . . intronic . 0.0292 . 0.0218 -2.5 +7 81799996 CACNA2D1 C G 4 0.0609026 . . . . . . intronic . 0.0289 . 0.0218 -2.5 +7 81800028 CACNA2D1 CAGA C 1 0.000798722 . . . . . . intronic . . . 0.0007 0 +7 81964578 CACNA2D1 G GA 50 0.16254 . MedGen:CN169374 not_specified Benign 0.2135 . intronic . 0.2010 0.2304 0.2180 -2.5 +7 81964649 CACNA2D1 T G 3 0.0385383 . . . . . . intronic . . . 0.0114 -2.5 +7 82072789 CACNA2D1 G A 1 0.000199681 . . . . 0.0003 . UTR5 . 0.0002 0.0003 0.0002 2.5 +7 91603004 AKAP9 G A 1 0.0225639 0.259 . . . 0.0004 . intronic . 0.0006 0.0003 0.0003 1.5 +7 91603115 AKAP9 C T 2 0.00219649 -1.115 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0127 nonsynonymous_SNV exonic T 0.0140 0.0133 0.0108 3.5 +7 91622187 AKAP9 G C 1 0.000199681 . . . . 1.562e-05 . intronic . . 1.797e-05 . 6.5 +7 91630330 AKAP9 G A 1 0.000199681 -0.799 Human_Phenotype_Ontology:HP:0001695,MedGen:C0018790|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN517202 Cardiac_arrest|Long_QT_syndrome|Long_QT_syndrome_2|not_specified|not_provided Likely_benign 0.0009 nonsynonymous_SNV exonic T 0.0001 0.0004 0.0003 6 +7 91630532 AKAP9 G A 1 0.0177716 2.698 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 7.572e-05 nonsynonymous_SNV exonic T 0.0002 7.238e-05 6.675e-05 3.5 +7 91630565 AKAP9 T C 1 0.000199681 4.893 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Uncertain_significance 0.0002 nonsynonymous_SNV exonic T 0.0002 0.0002 0.0002 8.5 +7 91630620 AKAP9 G T 86 0.372204 -0.375 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN221574|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Colorectal_cancer|Cardiovascular_phenotype Benign/Likely_benign 0.4004 nonsynonymous_SNV exonic T 0.4030 0.3908 0.3782 3.5 +7 91632306 AKAP9 C T 185 0.935903 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.8650 synonymous_SNV exonic . 0.8727 0.8638 0.8471 1.5 +7 91641682 AKAP9 A G 1 0.000998403 . . . . . . intronic . . . 0.0007 4 +7 91641714 AKAP9 T C 1 0.00319489 . . . . 0.0001 . intronic . . 0.0001 6.663e-05 4 +7 91641928 AKAP9 A G 86 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4006 synonymous_SNV exonic . 0.4031 0.3908 0.3779 1.5 +7 91643488 AKAP9 G C 1 0.000199681 . . . . . . intronic . . . . 6.5 +7 91646406 AKAP9 G A 3 0.0109824 0.354 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0154 nonsynonymous_SNV exonic T 0.0089 0.0083 0.0063 3.5 +7 91652178 AKAP9 A AAAC 86 0.42472 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4010 nonframeshift_insertion exonic . 0.4031 0.3893 0.3761 1.5 +7 91659150 AKAP9 C G 86 0.373802 . . . . . . intronic . . . 0.3790 1.5 +7 91660820 AKAP9 A T 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign 0.0006 . intronic . 0.0005 0.0006 0.0001 4 +7 91667692 AKAP9 T G 86 0.359625 . . . . 0.4153 . intronic . 0.3989 0.3937 0.3770 1.5 +7 91669950 AKAP9 T C 1 0.0091853 . . . . 0.0122 . intronic . . 0.0076 0.0176 1.5 +7 91669960 AKAP9 GT G 87 0.398363 . MedGen:C0003811,OMIM:115000 Cardiac_arrhythmia Benign 0.2703 . intronic . . 0.2155 0.0041 1.5 +7 91672166 AKAP9 T C 4 0.00738818 . . . . . . intronic . . . 0.0075 5 +7 91674302 AKAP9 G A 86 0.428514 . MedGen:C2678483,OMIM:611820|MedGen:CN169374 Long_QT_syndrome_11|not_specified Benign 0.4009 . intronic . 0.4031 0.3906 0.3781 4.5 +7 91691601 AKAP9 C T 86 0.359824 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4002 synonymous_SNV exonic . 0.4031 0.3906 0.3776 1.5 +7 91706252 AKAP9 A G 1 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0005 synonymous_SNV exonic . 0.0002 0.0004 0.0007 4 +7 91707197 AKAP9 C T 86 0.36242 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified Benign/Likely_benign 0.4291 . intronic . 0.4004 0.3882 0.3782 1.5 +7 91708722 AKAP9 G A 1 0.00159744 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign 0.0039 synonymous_SNV exonic . 0.0047 0.0043 0.0043 4 +7 91708898 AKAP9 A G 31 0.0654952 -1.816 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.1364 nonsynonymous_SNV exonic T 0.1273 0.1370 0.1533 3.5 +7 91708935 AKAP9 T G 1 0.000199681 -0.178 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0005 nonsynonymous_SNV exonic T 0.0002 0.0004 0.0004 6 +7 91711791 AKAP9 A AT,G 1 0.360623 . . . . 0.4049 . intronic . 0.4042 0.3933 0.3787 1.5 +7 91712609 AKAP9 A C 2 0.000798722 -0.507 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0021 nonsynonymous_SNV exonic T 0.0013 0.0019 0.0018 6 +7 91712678 AKAP9 T G 1 0.000199681 . . . . 1.509e-05 synonymous_SNV exonic . . 2.707e-05 . 6.5 +7 91712698 AKAP9 A G 85 0.295927 -0.076 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3992 nonsynonymous_SNV exonic T 0.4013 0.3899 0.3764 3.5 +7 91713016 AKAP9 TA T 86 0.360623 . . . . 0.5086 . intronic . . 0.5109 0.3921 1.5 +7 91713017 AKAP9 A T 73 0.322085 . . . . 0.0076 . intronic . . 0.0020 0.0004 1.5 +7 91713018 AKAP9 A T 86 0.360623 . . . . 0.4909 . intronic . . 0.4696 0.3746 1.5 +7 91713972 AKAP9 C T 86 0.373802 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4000 synonymous_SNV exonic . 0.4027 0.3900 0.3782 1.5 +7 91714911 AKAP9 C T 214 0.998802 -0.130 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.9963 nonsynonymous_SNV exonic T 0.9962 0.9963 0.9942 3.5 +7 91714998 AKAP9 G A 1 0.000199681 0.726 . . . 5.457e-05 nonsynonymous_SNV exonic T . 2.731e-05 0 8.5 +7 91715662 AKAP9 C T 85 0.295727 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3990 synonymous_SNV exonic . 0.4013 0.3898 0.3766 1.5 +7 91718874 AKAP9 A G 1 0.0125799 0.526 . . . 0.0199 . intronic . 0.0203 0.0182 0.0220 1.5 +7 91726280 AKAP9 G A 1 0.000199681 0.447 . . . 2.998e-05 nonsynonymous_SNV exonic T . 4.481e-05 0 8.5 +7 91726470 AKAP9 T C 1 0.000998403 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736 Long_QT_syndrome|Cardiovascular_phenotype Benign/Likely_benign 0.0020 synonymous_SNV exonic . 0.0030 0.0022 0.0022 4 +7 91726927 AKAP9 A C 86 0.377396 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.4001 synonymous_SNV exonic . 0.4036 0.3909 0.3776 1.5 +7 91727018 AKAP9 C A 1 0.000199681 0.054 . . . . nonsynonymous_SNV exonic T . . . 8.5 +7 91727385 AKAP9 G A 86 0.362021 . . . . 0.4158 . intronic . 0.4027 0.3901 0.3775 1.5 +7 91727479 AKAP9 A T 1 0.000599042 6.273 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0014 nonsynonymous_SNV exonic T 0.0013 0.0015 0.0012 6 +7 91727487 AKAP9 A G 1 0.000998403 3.059 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Romano-Ward_syndrome|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0010 nonsynonymous_SNV exonic T 0.0008 0.0010 0.0006 6 +7 91729127 AKAP9 A G 2 0.00678914 1.252 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C2678483,OMIM:611820|MedGen:CN119492,Orphanet:ORPHA101016,SNOMED_CT:20852007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Long_QT_syndrome_11|Romano-Ward_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0099 nonsynonymous_SNV exonic T 0.0088 0.0104 0.0093 3.5 +7 91730115 AKAP9 G C 1 0.00139776 . . . . . . intronic . . . 0.0081 4 +7 91732083 AKAP9 G A 1 0.00159744 2.838 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.0021 nonsynonymous_SNV exonic T 0.0021 0.0022 0.0019 6 +7 91734904 AKAP9 A G 1 0.000199681 . . . . . . intronic . . . . 6.5 +7 91734913 AKAP9 C T 1 0.000199681 . . . . . . intronic . . . 0 6.5 +7 91735104 AKAP9 A C 2 0.00139776 . . . . 0.0006 . intronic . 0.0001 0.0007 0.0004 4 +7 91735110 AKAP9 A G 1 0.000199681 . . . . 1.512e-05 . intronic . . 1.795e-05 6.668e-05 6.5 +7 91736794 AKAP9 T A 88 0.428315 . . . . . . intronic . . . 0.3754 4.5 +7 91736803 AKAP9 AT A 1 0.000599042 . . . . . . intronic . . . 0.0033 4 +7 91739498 AKAP9 G A 1 0.000399361 . . . . 0.0002 . UTR3 . . 0.0001 0.0002 6.5 +7 92077202 GATAD1 G A 1 0.000199681 . . . . . synonymous_SNV exonic . . . . 6.5 +7 92077203 GATAD1 G A 25 0.0816693 -0.493 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign 0.2308 nonsynonymous_SNV exonic T . 0.2080 0.1293 7.125 +7 92084022 GATAD1 G GT 12 0.0179712 . . . . 0.0373 . intronic . 0.0412 0.0399 0.0337 1.5 +7 92085763 GATAD1 C T 5 0.00698882 7.208 MedGen:C3553409,OMIM:614672|MedGen:CN169374 Cardiomyopathy,_dilated,_2b|not_specified Benign 0.0164 nonsynonymous_SNV exonic T 0.0155 0.0172 0.0138 4.125 +7 128470838 FLNC C T 21 0.110024 . MedGen:CN169374 not_specified Benign 0.0860 synonymous_SNV exonic . 0.0851 0.0856 0.0929 -2.5 +7 128471084 FLNC G A 1 0.000599042 . . . . 0.0015 . intronic . 0.0021 0.0017 0.0019 0 +7 128475583 FLNC C A 1 0.000199681 2.790 . . . 1.518e-05 nonsynonymous_SNV exonic D . 9.136e-06 . 4.5 +7 128475624 FLNC C T 2 0.00119808 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0025 synonymous_SNV exonic . 0.0021 0.0023 0.0017 1.25 +7 128475627 FLNC C T 1 0.000199681 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant|not_provided Likely_benign 0.0004 synonymous_SNV exonic . 0.0001 0.0003 0.0004 3.75 +7 128477472 FLNC T C 26 0.121805 . MedGen:CN169374 not_specified Benign 0.1113 synonymous_SNV exonic . 0.1110 0.1118 0.1201 -2.5 +7 128477547 FLNC T C 26 0.121006 . MedGen:CN169374 not_specified Benign 0.1112 synonymous_SNV exonic . 0.1108 0.1116 0.1200 -2.5 +7 128477620 FLNC G A 24 0.076877 . MedGen:CN169374 not_specified Benign 0.0891 . intronic\x3bintronic . 0.0864 0.0879 0.0896 -2.5 +7 128477865 FLNC G A 8 0.197484 . . . . . . intronic . . . 0.0397 -2.5 +7 128478103 FLNC C T 8 0.196486 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0409 0.0410 0.0397 -2.5 +7 128478605 FLNC C T 1 0.0191693 . . . . . . intronic . 0.0005 . 0.0002 -2.5 +7 128480099 FLNC C T 1 0.000199681 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0002 synonymous_SNV exonic . 0.0006 0.0003 0.0003 1.25 +7 128480123 FLNC C A 3 0.196086 . MedGen:CN169374 not_specified Benign 0.0205 synonymous_SNV exonic . 0.0179 0.0181 0.0192 -2.5 +7 128480229 FLNC C A 1 0.00139776 . MedGen:CN169374|MedGen:CN517202 not_specified|not_provided Benign 0.0063 . intronic . 0.0052 0.0064 0.0067 0 +7 128480620 FLNC T C 1 0.000199681 4.290 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0002 nonsynonymous_SNV exonic D 0.0001 0.0002 0.0002 7 +7 128480666 FLNC C T 4 0.0159744 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0395 synonymous_SNV exonic . 0.0347 0.0386 0.0442 -1.875 +7 128480791 FLNC C G 27 0.298123 . . . . . . intronic . . . 0.0918 -2.5 +7 128480793 FLNC GGGCTGCGAGGGAGTTTGAGGGGAGATGGAGTT G 4 0.019369 . . . . . . intronic\x3bintronic . . . 0.0440 -2.5 +7 128481035 FLNC G T 2 0.00239617 . MedGen:CN169374 not_specified Conflicting_interpretations_of_pathogenicity 0.0007 . intronic . 0.0005 0.0006 0.0004 0 +7 128481060 FLNC G A 6 0.00459265 . MedGen:CN169374 not_specified Likely_benign 0.0102 . intronic . 0.0075 0.0091 0.0072 -2.5 +7 128481196 FLNC T C 8 0.264976 . MedGen:CN169374 not_specified Benign 0.0447 . intronic . 0.0434 0.0441 0.0429 -2.5 +7 128481312 FLNC G A 1 0.00159744 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0064 synonymous_SNV exonic . 0.0054 0.0066 0.0068 0.625 +7 128481386 FLNC T G 1 0.000399361 0.903 MedGen:CN169374 not_specified Likely_benign 5.997e-05 nonsynonymous_SNV exonic T . 7.162e-05 0 4.5 +7 128481578 FLNC A C 1 0.00199681 6.252 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0057 nonsynonymous_SNV exonic D 0.0054 0.0051 0.0043 4.625 +7 128482258 FLNC T C 1 0.00179712 . MedGen:CN169374 not_specified Likely_benign 0.0059 . intronic . 0.0058 0.0061 0.0060 0 +7 128482440 FLNC C G 9 0.267372 . MedGen:CN169374 not_specified Benign 0.0534 . intronic . 0.0515 0.0539 0.0538 -2.5 +7 128482806 FLNC G T 4 0.0147764 . . . . 0.0665 . intronic\x3bintronic . 0.0348 0.0389 0.0443 -2.5 +7 128482834 FLNC C T 5 0.00339457 . MedGen:CN169374 not_specified Benign 0.0169 . intronic . 0.0114 0.0136 0.0101 -2.5 +7 128482835 FLNC C T 4 0.0147764 . MedGen:CN169374 not_specified Benign 0.0449 . intronic . 0.0352 0.0387 0.0446 -2.5 +7 128483227 FLNC T C 34 0.361821 . . . . . . intronic . 0.1647 . 0.1732 -2.5 +7 128483635 FLNC C T 1 0.000199681 . . . . 0 . intronic . . 9.232e-06 . 2.5 +7 128484373 FLNC T C 1 0.000199681 . . . . . . intronic . . . . 2.5 +7 128484816 FLNC A G 34 0.379992 . MedGen:CN169374 not_specified Benign 0.1635 synonymous_SNV exonic . 0.1648 0.1643 0.1724 -2.5 +7 128484977 FLNC T G 1 0.000399361 3.089 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN239310|MedGen:CN517202 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|Dilated_Cardiomyopathy,_Dominant|not_provided Uncertain_significance 7.511e-05 nonsynonymous_SNV exonic D . 9.855e-05 6.67e-05 4.5 +7 128485240 FLNC C T 2 0.00199681 5.769 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0092 nonsynonymous_SNV exonic D 0.0095 0.0093 0.0117 2.125 +7 128486091 FLNC C T 4 0.0197684 . MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Benign 0.0398 synonymous_SNV exonic . 0.0345 0.0386 0.0448 -1.875 +7 128486252 FLNC T TGGGCAGGTGGGCAGGGCC 8 0.158147 . . . . 0.0418 . intronic . 0.0411 . 0.0413 -2.5 +7 128486363 FLNC C T 35 0.346046 . MedGen:CN169374 not_specified Benign 0.1711 synonymous_SNV exonic . 0.1622 0.1667 0.1717 0.5 +7 128486412 FLNC G A 1 0.000798722 5.915 MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Conflicting_interpretations_of_pathogenicity 0.0013 nonsynonymous_SNV exonic T 0.0018 0.0009 0.0002 4.5 +7 128486446 FLNC C T 8 0.160543 . MedGen:CN169374 not_specified Benign 0.0420 synonymous_SNV exonic . 0.0401 0.0409 0.0396 -2.5 +7 128486579 FLNC C T 2 0.0091853 . . . . . . intronic . . . 0.0192 -2.5 +7 128487866 FLNC T C 214 0.990615 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 1 0.9999 0.9999 -2.5 +7 128487893 FLNC G A 8 0.257788 . MedGen:CN169374 not_specified Benign 0.0446 synonymous_SNV exonic . 0.0433 0.0439 0.0428 -2.5 +7 128488072 FLNC C T 1 0.000199681 . . . . 2.291e-05 synonymous_SNV exonic . . 1.923e-05 0 2.5 +7 128488734 FLNC G A 21 0.0625 4.924 MedGen:CN169374 not_specified Benign 0.0879 nonsynonymous_SNV exonic T 0.0850 0.0866 0.0886 -0.5 +7 128488800 FLNC G A 4 0.0147764 . . . . 0.0396 . intronic\x3bintronic . 0.0352 0.0386 0.0445 -2.5 +7 128490012 FLNC C T 1 0.000798722 . MedGen:CN169374 not_specified Likely_benign 3.903e-05 . intronic . . 1.086e-05 0 0 +7 128490553 FLNC T C 37 0.403355 . MedGen:CN169374 not_specified Benign 0.1948 . intronic . 0.1900 0.1934 0.2064 0.5 +7 128490926 FLNC C T 1 0.000599042 5.676 . . . 0 nonsynonymous_SNV exonic D . 8.954e-06 0.0001 4 +7 128491497 FLNC C T 4 0.0147764 . MedGen:CN169374 not_specified Benign 0.0396 . intronic . 0.0352 0.0386 0.0445 -2.5 +7 128491603 FLNC T C 8 0.288938 . MedGen:CN169374 not_specified Benign 0.0448 synonymous_SNV exonic . 0.0448 0.0443 0.0431 -2.5 +7 128492817 FLNC G A 1 0.00399361 . MedGen:CN169374 not_specified Benign 0.0105 . intronic\x3bintronic . 0.0128 0.0114 0.0102 -2.5 +7 128492825 FLNC G A 1 0.00479233 . MedGen:CN169374 not_specified Benign 0.0185 . intronic\x3bintronic . 0.0172 0.0189 0.0180 -2.5 +7 128495338 FLNC C T 9 0.258786 . MedGen:CN169374 not_specified Benign 0.0445 synonymous_SNV exonic . 0.0436 0.0439 0.0426 -2.5 +7 128497040 FLNC C T 1 0.00638978 . . . . . . intronic . . . 0.0078 0 +7 128498228 FLNC C T 1 0.000399361 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001639,MedGen:C0007194,Orphanet:ORPHA217569|MedGen:C1836050,OMIM:609524,Orphanet:ORPHA171445|MedGen:C3279722,OMIM:614065,Orphanet:ORPHA63273|MedGen:C4310749,OMIM:617047|MedGen:CN169374|MedGen:CN239310 Primary_dilated_cardiomyopathy|Hypertrophic_cardiomyopathy|Myofibrillar_myopathy,_filamin_C-related|Myopathy,_distal,_4|Cardiomyopathy,_familial_hypertrophic,_26|not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0011 synonymous_SNV exonic . 0.0004 0.0010 0.0014 2.5 +7 128498630 FLNC TACACAC TACAC,T 1 0.0890575 . . . . . . UTR3 . . . 0.1074 -2.5 +7 136699781 CHRM2 G A 1 0.000199681 4.382 . . . 6e-05 nonsynonymous_SNV exonic T . 5.403e-05 0 8.5 +7 136700303 CHRM2 G A 1 0.000998403 2.077 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0045 nonsynonymous_SNV exonic T 0.0049 0.0053 0.0071 6 +7 136700385 CHRM2 A G 1 0.000998403 -1.074 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Benign/Likely_benign 0.0020 nonsynonymous_SNV exonic T 0.0017 0.0018 0.0007 6 +7 136700726 CHRM2 C G 1 0.000399361 0.481 MedGen:CN169374|MedGen:CN239310 not_specified|Dilated_Cardiomyopathy,_Dominant Likely_benign 0.0018 nonsynonymous_SNV exonic T 0.0016 0.0016 0.0013 6 +7 150644388 KCNH2 C G 1 0.000399361 . . . . 0 . intronic . . 0.0003 0.0004 6.5 +7 150644394 KCNH2 C T 50 0.385583 . . . . 0.3279 . intronic . 0.1625 0.2188 0.2221 1.5 +7 150644428 KCNH2 C A 3 0.00898562 5.379 EFO:EFO_0005307,MedGen:C0040479,SNOMED_CT:31722008|MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:C0520806|MedGen:C3150943,OMIM:613688|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Torsades_de_pointes|Long_QT_syndrome|Cardiac_arrhythmia|Sudden_unexplained_death|Long_QT_syndrome_2|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0200 nonsynonymous_SNV exonic T 0.0178 0.0228 0.0351 3.5 +7 150644755 KCNH2 C T 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 7.575e-05 synonymous_SNV exonic . . 6.875e-05 6.684e-05 6.5 +7 150644866 KCNH2 C T 1 0.000199681 . . . . . synonymous_SNV exonic . . 4.252e-05 . 6.5 +7 150644890 KCNH2 C G 1 0.000199681 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007 Long_QT_syndrome Likely_benign . synonymous_SNV exonic . . . . 6.5 +7 150645015 KCNH2 G A 1 0.000599042 . . . . 0 . intronic . . 0.0018 0.0016 4 +7 150645023 KCNH2 G A 20 0.174121 . . . . . . intronic . . . 0.1149 1.5 +7 150645534 KCNH2 T G 63 0.136182 2.039 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0004238|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|Atrial_fibrillation|not_specified|Cardiovascular_phenotype|not_provided Benign/Likely_benign 0.2348 nonsynonymous_SNV exonic T 0.2326 0.2359 0.2577 3.5 +7 150645682 KCNH2 G A 134 0.709465 . . . . 0.5634 . intronic . 0.5610 0.5705 0.5607 1.5 +7 150647569 KCNH2 T C 138 0.754992 . . . . . . intronic\x3bintronic . . . 0.5989 1.5 +7 150647969 KCNH2 C T 67 0.273762 . . . . 0.2634 . intronic . 0.2281 0.2678 0.2570 1.5 +7 150647970 KCNH2 C G 67 0.273762 . . . . 0.2639 . intronic . 0.2324 0.2681 0.2574 1.5 +7 150648198 KCNH2 A G 138 0.772165 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.5994 synonymous_SNV exonic . 0.5898 0.6023 0.6004 1.5 +7 150648229 KCNH2 G A 1 0.00239617 . . . . 4.892e-05 . intronic . . 2.908e-05 6.686e-05 4 +7 150648789 KCNH2 T C 76 0.608427 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.3756 synonymous_SNV exonic . 0.3601 0.3725 0.3836 1.5 +7 150648986 KCNH2 G C 78 0.431709 . . . . . . intronic . . . 0.3292 1.5 +7 150649531 KCNH2 G A 50 0.341653 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:C0003811,OMIM:115000|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|Cardiac_arrhythmia|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2218 synonymous_SNV exonic . 0.2133 0.2141 0.2223 1.5 +7 150649542 KCNH2 G A 1 0.000599042 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.0015 synonymous_SNV exonic . 0.0017 0.0011 0.0013 4 +7 150649603 KCNH2 G A 51 0.342652 . MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736 Long_QT_syndrome|not_specified|Cardiovascular_phenotype Benign/Likely_benign 0.2213 synonymous_SNV exonic . 0.2135 0.2152 0.2231 1.5 +7 150649984 KCNH2 G C 1 0.000199681 . . . . 0.0001 . intronic . 0.0003 0.0001 0.0002 6.5 +7 150652419 KCNH2 T C 20 0.133786 . . . . . . intronic . . . 0.1133 1.5 +7 150652420 KCNH2 G A 1 0.000199681 . . . . . . intronic . . . 0.0005 4 +7 150654622 KCNH2 A AG 214 1 . . . . 1 . intronic . 0.9988 1.0000 1 1.5 +7 150655624 KCNH2 T C 70 0.501797 . . . . 0.3521 . intronic . 0.2406 0.3112 0.3351 4.5 +7 150655643 KCNH2 G A 70 0.4998 . . . . . . intronic . . . 0.3350 4.5 +7 150656690 KCNH2 G A 1 0.000599042 4.974 MeSH:D008133,MedGen:C0023976,SNOMED_CT:9651007|MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 Long_QT_syndrome|not_specified|Cardiovascular_phenotype|not_provided Conflicting_interpretations_of_pathogenicity 0.0015 nonsynonymous_SNV exonic D 0.0019 0.0006 0.0006 6 +7 150671769 KCNH2 G A 1 0.0215655 . . . . 0.0078 . intronic . 0.0025 0.0021 0.0026 1.5 +7 150671772 KCNH2 C G 1 0.00219649 . . . . 0.0055 . intronic . . 0.0024 0.0036 4 +7 150671793 KCNH2 T C 1 0.000199681 . . . . . . intronic . . 0 0 6.5 +7 150675078 KCNH2 C G 1 0.000199681 . . . . . . UTR5 . . . . 6.5 +7 151254175 PRKAG2 T C 139 0.554313 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign . . UTR3 . . . 0.6430 2.75 +7 151254231 PRKAG2 C T 3 0.00519169 . . . . . . UTR3 . 0.0082 . 0.0071 4 +7 151254443 PRKAG2 G A 8 0.0131789 . . . . . . intronic . . . 0.0429 1.5 +7 151254445 PRKAG2 T C 139 0.540136 . . . . . . intronic . . . 0.6433 1.5 +7 151262385 PRKAG2 T C 8 0.0171725 . . . . 0.0411 . intronic . 0.0316 0.0351 0.0340 1.5 +7 151262528 PRKAG2 A C 1 0.00239617 . . . . . . intronic . . . 0.0008 4 +7 151267237 PRKAG2 GA GAA 2 . . . . . . . intronic . . . . 9 +7 151267292 PRKAG2 T A 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 3.013e-05 synonymous_SNV exonic . . 1.8e-05 . 6.5 +7 151267353 PRKAG2 G A 23 0.144169 . MedGen:CN169374 not_specified Benign 0.1175 . intronic . 0.1105 0.1131 0.1201 1.5 +7 151267397 PRKAG2 G A 40 0.242412 . . . . . . intronic . . . 0.2439 1.5 +7 151269890 PRKAG2 T A 23 0.147764 . . . . . . intronic . . . 0.1198 1.5 +7 151269916 PRKAG2 C T 23 0.147764 . . . . . . intronic . . . 0.1201 1.5 +7 151292395 PRKAG2 A AT 156 0.804712 . MedGen:CN169374 not_specified Likely_benign 0.7345 . intronic . 0.7284 0.7300 0.7277 1.5 +7 151292609 PRKAG2 G A 1 0.000199681 . . . . . . intronic . . . 6.663e-05 6.5 +7 151292614 PRKAG2 C T 1 0.000199681 . . . . . . intronic . . . 0.0002 6.5 +7 151329345 PRKAG2 G A 2 0.0547125 . . . . . . intronic . . . 0.0043 1.5 +7 151372472 PRKAG2 C T 1 0.000399361 . . . . 0.0012 . intronic . 0.0008 0.0009 0.0016 4 +7 151372744 PRKAG2 A G 1 0.061901 . . . . 0.0143 . intronic . 0.0120 0.0134 0.0133 1.5 +7 151478187 PRKAG2 A G 10 0.0157748 . . . . 0.0478 . intronic . 0.0491 0.0487 0.0502 1.5 +7 151478227 PRKAG2 C G 1 0.000199681 . . . . 4.516e-05 . intronic . . 2.69e-05 . 6.5 +7 151483608 PRKAG2 A T 1 0.000199681 3.373 . . . 3.591e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . 1.809e-05 . 6.5 +7 151573549 PRKAG2 G A 7 0.0587061 . MedGen:CN169374 not_specified Benign 0.0445 . intronic . 0.0434 0.0444 0.0411 1.5 +7 151573580 PRKAG2 G A 7 0.0277556 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Benign/Likely_benign 0.0710 . intronic . 0.0769 0.0731 0.0817 2.75 +7 151573731 PRKAG2 G A 26 0.188898 . Human_Phenotype_Ontology:HP:0001716,MedGen:C1963282|MedGen:C1849813,OMIM:261740,Orphanet:ORPHA439854|MedGen:CN169374|MedGen:CN239247 Wolff-Parkinson-White_syndrome|Glycogen_storage_disease_of_heart,_lethal_congenital|not_specified|Familial_Hypertrophic_Cardiomyopathy_with_Wolff-Parkinson-White_Syndrome Likely_benign 0.1276 . UTR5 . 0.1259 0.1237 0.1309 2.75 +8 11566168 GATA4 C T 1 0.000199681 3.029 . . . . nonsynonymous_SNV exonic D . . . 4.5 +8 11606364 GATA4 G C 23 0.0493211 . MedGen:C0152021,SNOMED_CT:13213009 Congenital_heart_disease Pathogenic . . intronic . . . 0.1886 -2.5 +8 11607658 GATA4 C T 1 0.00179712 . EFO:EFO_0000407,Human_Phenotype_Ontology:HP:0001644,MedGen:C0007193,Orphanet:ORPHA217604,SNOMED_CT:195021004|Human_Phenotype_Ontology:HP:0001636,MedGen:C0039685,OMIM:187500,Orphanet:ORPHA3303,SNOMED_CT:86299006|MedGen:C1842778,OMIM:607941|MedGen:C3280777,OMIM:614429|MedGen:C3280781,OMIM:614430|MedGen:CN169374|MedGen:CN230736 Primary_dilated_cardiomyopathy|Tetralogy_of_Fallot|Atrial_septal_defect_2|Ventricular_septal_defect_1|Atrioventricular_septal_defect_4|not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 0.0030 synonymous_SNV exonic . 0.0040 0.0032 0.0041 2.5 +8 11607693 GATA4 C T 1 0.000599042 6.411 . . . 6.036e-05 nonsynonymous_SNV exonic D . 7.173e-05 . 4 +8 11612512 GATA4 C T 1 0.000199681 . . . . 0.0001 . intronic . . 0.0001 6.664e-05 2.5 +8 11612519 GATA4 A C 1 0.000199681 . . . . 1.804e-05 . intronic . . 9.167e-06 . 2.5 +8 11612665 GATA4 A T 1 0.0233626 . . . . 0.0006 . intronic . 0.0003 0.0007 0.0003 -2.5 +8 11612698 GATA4 C A 119 0.734425 . MedGen:C0152021,SNOMED_CT:13213009|MedGen:CN517202 Congenital_heart_disease|not_provided Conflicting_interpretations_of_pathogenicity . . intronic . 0.5839 . 0.5729 3.5 +8 11614575 GATA4 A G 21 0.0429313 0.793 MedGen:CN169374|MedGen:CN230736|MedGen:CN517202 not_specified|Cardiovascular_phenotype|not_provided Benign 0.1354 nonsynonymous_SNV exonic T 0.14 0.1309 0.1595 -0.5 +8 11616015 GATA4 C T 1 0.000199681 . . . . 0.0002 . UTR3 . 0.0001 0.0002 0.0005 0 +8 74888494 TMEM70 C T 61 0.216653 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.3705 . UTR5 . 0.2945 0.3017 0.3004 -2.5 +8 74888616 TMEM70 G C 42 0.176118 2.230 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1674 nonsynonymous_SNV exonic T 0.1301 0.1316 0.1276 -0.5 +8 74890961 TMEM70 A G 106 0.477835 . . . . 0.4598 . intronic\x3bintronic . 0.4551 0.4526 0.4510 -2.5 +8 74890985 TMEM70 C T 2 0.000599042 . MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Conflicting_interpretations_of_pathogenicity 0.0042 . intronic\x3bintronic . 0.0040 0.0041 0.0033 0 +8 74891164 TMEM70 A G 42 0.186102 . . . . . . intronic\x3bintronic . . . 0.1276 -2.5 +8 74893419 TMEM70 C G 3 0.0227636 -2.907 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374|MedGen:CN239153 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign/Likely_benign 0.0202 nonsynonymous_SNV exonic T 0.0177 0.0193 0.0219 -0.5 +8 74893653 TMEM70 G A 5 0.0071885 0.759 MedGen:C3279699,OMIM:614052,Orphanet:ORPHA1194|MedGen:CN169374 Nuclearly-encoded_mitochondrial_complex_V_(ATP_synthase)_deficiency_2|not_specified Benign 0.0170 nonsynonymous_SNV exonic T 0.0156 0.0154 0.0173 -0.5 +8 74893727 TMEM70 A G 1 0.000199681 . . . . 0.0002 synonymous_SNV exonic . . 0.0002 0.0003 2.5 +8 74893821 TMEM70 A G 45 0.258986 -3.329 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1603 nonsynonymous_SNV exonic T 0.1556 0.1522 0.1506 -0.5 +8 74893839 TMEM70 C T 1 0.000199681 -1.050 . . . 4.57e-05 nonsynonymous_SNV exonic T . 2.736e-05 . 4.5 +8 74893850 TMEM70 C G 45 0.258986 -1.736 MedGen:CN169374|MedGen:CN239153 not_specified|Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.1605 nonsynonymous_SNV exonic T 0.1556 0.1516 0.1506 -0.5 +8 74893880 TMEM70 C T 106 0.47504 . MedGen:CN239153 Mitochondrial_Complex_V_(ATP_Synthase)_Deficiency,_Nuclear_Type Benign 0.4715 . UTR3 . 0.4513 0.4515 0.4520 -2.5 +9 7161999 KDM4C A C 6 0.00599042 . . . . . . intronic . . . 0.0156 -2.5 +9 7162001 KDM4C CT C 2 0.000798722 . . . . . . intronic . . . 0.0011 0 +9 7162074 KDM4C A C 5 0.0061901 . . . . . . intronic . . . 0.0125 -2.5 +9 7162249 KDM4C C G 1 0.000199681 . . . . . . intronic . . . . 2.5 +9 7162351 KDM4C G A 73 0.126797 . . . . . . intronic . . . 0.1872 -2.5 +9 7162437 KDM4C G A 1 0.000199681 . . . . . . intronic . . . 0.0006 0 +9 71650692 FXN G A 9 0.00758786 . MedGen:CN169374 not_specified Benign 0.0265 . UTR5 . . 0.0325 0.0291 1.5 +9 71650752 FXN A G 214 0.984824 . MedGen:C1856689,OMIM:229300|MedGen:CN169374|MedGen:CN230736 Friedreich_ataxia_1|not_specified|Cardiovascular_phenotype Benign 1 synonymous_SNV exonic . . 0.9998 0.9999 1.5 +9 71650878 FXN C T 1 0.00119808 . . . . 0 . intronic . . 0 0 4 +9 71650906 FXN G GGCCGCAC 4 0.00339457 . . . . 0 . intronic . . 0.0005 0.0098 5 +9 71661314 FXN G A 1 0.00179712 -0.060 MedGen:CN169374|MedGen:CN230736 not_specified|Cardiovascular_phenotype Conflicting_interpretations_of_pathogenicity 1.518e-05 nonsynonymous_SNV exonic T . 8.954e-06 0 6 +9 71667986 FXN G A 86 0.349241 . . . . . . intronic . . . 0.4440 1.5 +9 71668197 FXN T C 120 0.501597 . . . . 0.5290 . intronic . 0.5149 0.5285 0.5132 1.5 +9 71680034 FXN C T 1 0.000998403 . . . . . . intronic\x3bintronic . . . 0.0018 4 +9 71687440 FXN C T 91 0.467053 . . . . . . intronic . . . 0.4020 1.5 +9 71687451 FXN G A 1 0.000998403 . . . . . . intronic . . . 0.0035 4 +9 103340369 MURC G A 84 0.302915 . . . . . . UTR5 . . . 0.4299 4.5 +9 103340875 MURC T C 65 0.210663 . . . . 0.3243 . intronic . 0.3068 0.3287 0.3437 4.5 +9 103348157 MURC G C 1 0.000199681 . MedGen:CN169374 not_specified Likely_benign 0.0007 synonymous_SNV exonic . 0.0005 0.0007 0.0006 4 +9 103348208 MURC A T 4 0.117812 . MedGen:CN169374 not_specified Benign 0.0238 synonymous_SNV exonic . 0.0236 0.0238 0.0218 1.5 +9 103348340 MURC A G 2 0.000998403 . . . . 0 synonymous_SNV exonic . . 0 0 4 +9 103348343 MURC G A 2 0.000998403 . . . . . synonymous_SNV exonic . . . . 4 +9 103348352 MURC A G 2 0.00119808 . . . . . synonymous_SNV exonic . . . . 4 +9 103348538 MURC C T 1 0.000199681 . . . . 0.0003 synonymous_SNV exonic . 0.0005 0.0004 0.0002 4 +9 103348634 MURC G A 84 0.293331 . MedGen:CN169374 not_specified Benign 0.4040 synonymous_SNV exonic . 0.4166 0.4052 0.4264 7.5 +9 108363426 FKTN C T 8 0.0103834 5.704 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Conflicting_interpretations_of_pathogenicity 0.0368 nonsynonymous_SNV exonic D 0.0283 0.0273 0.0245 5.5 +9 108366499 FKTN G A 1 0.0371406 1.784 MedGen:C0265221,Orphanet:ORPHA899,SNOMED_CT:111504002|MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:CN169374|MedGen:CN230736 Walker-Warburg_congenital_muscular_dystrophy|Fukuyama_congenital_muscular_dystrophy|not_specified|Cardiovascular_phenotype Benign 0.0106 nonsynonymous_SNV exonic T 0.0114 0.0110 0.0108 3.5 +9 108366734 FKTN G A 55 0.158147 3.672 MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3053 nonsynonymous_SNV exonic T 0.3190 0.3085 0.3229 6.5 +9 108370163 FKTN C G 1 0.000199681 2.079 . . . . nonsynonymous_SNV exonic T . . . 8.5 +9 108380223 FKTN T A 2 0.000399361 . . . . 0.0002 . intronic . . 0.0001 . 6.5 +9 108380355 FKTN C A 55 0.178315 . MedGen:C0410174,OMIM:253800,Orphanet:ORPHA272,SNOMED_CT:111502003|MedGen:C1969040,OMIM:611588,Orphanet:ORPHA206554|MedGen:C2751052,OMIM:613152|MedGen:CN169374|MedGen:CN230736|MedGen:CN239222 Fukuyama_congenital_muscular_dystrophy|Limb-girdle_muscular_dystrophy-dystroglycanopathy,_type_C4|Congenital_muscular_dystrophy-dystroglycanopathy_without_mental_retardation,_type_B4|not_specified|Cardiovascular_phenotype|Dilated_Cardiomyopathy,_Recessive Benign/Likely_benign 0.3058 synonymous_SNV exonic . 0.3177 0.3079 0.3218 1.5 +9 108380417 FKTN A G 4 0.0113818 . MedGen:CN169374 not_specified Benign 0.0405 . intronic . 0.0375 0.0407 0.0387 1.5 +9 108397426 FKTN T C 1 0.000199681 6.116 . . . 1.498e-05 nonsynonymous_SNV\x3bnonsynonymous_SNV exonic\x3bexonic D . 8.957e-06 . 6.5 +9 131707989 DOLK G A 1 0.000199681 1.384 . . . 2.997e-05 nonsynonymous_SNV exonic D . 2.685e-05 . 8.5 +9 131708145 DOLK T C 1 0.000199681 0.079 MedGen:CN517202 not_provided Uncertain_significance 8.991e-05 nonsynonymous_SNV exonic T 0.0001 0.0001 0.0001 8.5 +9 131708504 DOLK T C 1 0.000798722 3.446 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Likely_benign 0.0017 nonsynonymous_SNV exonic T 0.0009 0.0012 0.0005 6 +9 131708883 DOLK T C 1 0.000998403 -0.828 MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374 Congenital_disorder_of_glycosylation_type_1M|not_specified Uncertain_significance 0.0019 nonsynonymous_SNV exonic T 0.0014 0.0020 0.0019 6 +9 131709581 DOLK A AT 1 0.00259585 . MedGen:C1835849,OMIM:610768,Orphanet:ORPHA91131|MedGen:CN169374|MedGen:CN517202 Congenital_disorder_of_glycosylation_type_1M|not_specified|not_provided Benign/Likely_benign 0.0130 frameshift_insertion exonic . 0.0092 0.0114 0.0092 6.5