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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