# HG changeset patch
# User elixir-it
# Date 1591718242 0
# Node ID 1e6d7de8bbadffdeb142d387aed8f73ec11794b6

Uploaded

diff -r 000000000000 -r 1e6d7de8bbad GeneP_pdf.R
--- /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();
diff -r 000000000000 -r 1e6d7de8bbad boxplot.xml
--- /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>
diff -r 000000000000 -r 1e6d7de8bbad test-data/R.csv
--- /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
diff -r 000000000000 -r 1e6d7de8bbad test-data/T.csv
--- /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