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0
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1 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
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2 chr1 11905995 na C A 1 0.0221645 . . . . . . ncRNA_intronic . 0.0641 . 0.0516 -1
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3 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
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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
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5 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
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6 chr1 11907648 NPPA C T 2 0.0734824 0.267 . . . 0.0421 nonsynonymous_SNV exonic T 0.0471 0.0457 0.0459 -1
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7 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
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8 chr1 78390821 NEXN CAAAAAGT CAAAAGT 2 0.00938498 . . . . . . intronic . 0.0251 . 0.0159 2
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9 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
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10 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
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11 chr1 78401656 NEXN TAGAAGAAGAGC TAGAAGAGC 1 . . . . . 0.0001 nonframeshift_deletion exonic . . 8.093e-05 0.0001 8
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12 chr1 112321032 KCND3 T A 6 0.192692 . . . . 0.1960 . intronic . 0.1974 0.1992 0.2087 -1
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13 chr1 112329551 KCND3 G T 9 0.192692 . MedGen:CN169374 not_specified Benign 0.1492 . intronic . 0.1417 0.1469 0.1559 -2
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14 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
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15 chr1 112524788 KCND3 G A 1 . . . . . 1.513e-05 synonymous_SNV exonic . . 8.964e-06 . 4
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16 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
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17 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
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18 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
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19 chr1 116245655 CASQ2 G C 16 0.216054 . . . . 0.2308 . intronic . 0.2029 0.2144 0.2207 2
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20 chr1 116247790 CASQ2 G A 28 0.428714 . MedGen:CN169374 not_specified Benign 0.3086 . intronic . 0.3197 0.3113 0.2918 2
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21 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
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22 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
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23 chr1 116260544 CASQ2 C T 25 0.250799 . . . . 0.2315 . intronic . 0.2274 0.2347 0.2379 2
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24 chr1 116268178 CASQ2 GAAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC GAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAAAAAGAAAGAGCTTC,GAAAAAAAAAAAAAAAAAAGAAAGAGCTTC 25 . . . . . 0.0456 . intronic . . . . 2
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25 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
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26 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
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27 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
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28 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
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29 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
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30 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
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31 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
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32 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
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33 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
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34 chr1 156106964 LMNA C T 1 . 13.679 . . . . stopgain exonic . . . . 13
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35 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
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36 chr1 156108976 LMNA G C 11 0.185304 . MedGen:CN517202 not_provided not_provided . . UTR3 . 0.0773 . 0.0708 2
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37 chr1 162313735 NOS1AP C T 23 0.430911 . . . . 0.3647 synonymous_SNV exonic . 0.3571 0.3580 0.3632 -2
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38 chr1 162335256 NOS1AP C T 14 0.250799 . . . . 0.1195 synonymous_SNV exonic . 0.1199 0.1169 0.1075 -2
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39 chr1 201328705 TNNT2 G A 3 0.0113818 . . . . 0.0364 . intronic . 0.0283 0.0301 0.0266 2
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40 chr1 201328824 TNNT2 G A 9 0.277157 . MedGen:CN169374 not_specified Benign 0.1326 . intronic . 0.1020 0.0985 0.0993 2
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41 chr1 201330366 TNNT2 G C 1 0.0579073 . MedGen:CN169374 not_specified Likely_benign 0.0026 . intronic . 0.0008 0.0020 0.0025 2
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42 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
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43 chr1 201331256 TNNT2 G A 1 0.00179712 . . . . 0.0040 . intronic . 0.0013 0.0018 0.0015 4
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44 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
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45 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
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46 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
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47 chr1 201336984 TNNT2 C T 31 0.285543 . MedGen:CN169374 not_specified Benign 0.4552 . intronic . 0.4466 0.4556 0.4630 2
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48 chr1 201338553 TNNT2 T C 51 0.734625 . . . . . . intronic . 0.7219 . 0.7224 2
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49 chr1 201338896 TNNT2 T C 51 0.529952 . . . . 0.6175 . intronic . 0.6210 0.6161 0.6255 2
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50 chr1 201339043 TNNT2 C T,A 51 0.0495208 . . . . . . intronic . . . 0.0025 2
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51 chr1 201339044 TNNT2 G A 6 0.0678914 . . . . . . intronic . 0.1009 . 0.1003 2
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52 chr1 201341175 TNNT2 CAGAAGAGAAGT CAGAAGT 51 0.520367 . . . . 0.6146 . intronic . . 0.6134 0.6170 2
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53 chr1 201341260 TNNT2 C T 1 . . . . . 2.997e-05 . intronic . 0.0001 3.58e-05 0 8
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54 chr1 201341341 TNNT2 C T 60 0.771765 . . . . . . intronic . 0.7244 . 0.7258 2
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55 chr1 201342385 TNNT2 T C 1 . 1.538 MedGen:CN169374 not_specified Likely_benign 0 . UTR5 T . 2.685e-05 6.683e-05 8
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56 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
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57 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
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58 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
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59 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
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60 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
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61 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
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62 chr1 227075813 PSEN2 A G 1 0.000399361 1.890 . . . 0.0003 nonsynonymous_SNV exonic D 0.0003 0.0003 0.0004 7
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63 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
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64 chr1 227076757 PSEN2 G A 1 . . . . . 1.677e-05 . intronic . . 9.318e-06 . 8
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65 chr1 227078955 PSEN2 T C 58 0.722843 . . . . 0.7860 . intronic . 0.7797 0.7796 0.7624 2
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66 chr1 227081850 PSEN2 G A 50 0.574081 . . . . 0.5668 . intronic . 0.5608 0.5551 0.5390 2
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67 chr1 228399482 C1orf145 C G 44 0.721046 . . . . 0.6207 . ncRNA_intronic . 0.6129 0.6047 0.6098 -2
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68 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
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69 chr1 228399766 OBSCN T C 38 0.726238 . . . . 0.6233 synonymous_SNV exonic . 0.6178 0.6077 0.6101 2
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70 chr1 228399799 OBSCN C T 1 0.0507188 . . . . 0.0482 synonymous_SNV exonic . 0.037 0.0415 0.0477 2
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71 chr1 228399824 OBSCN C A 2 . 2.522 . . . . nonsynonymous_SNV exonic T . . . 9
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72 chr1 228400178 OBSCN G A 1 . 0.338 . . . . nonsynonymous_SNV exonic T . . . 9
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73 chr1 228400286 OBSCN G T 1 . 11.257 . . . . stopgain exonic . . . . 13
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74 chr1 228401183 OBSCN G C 1 0.000998403 4.903 . . . 0.0002 nonsynonymous_SNV exonic D . 9.569e-05 0.0002 5
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75 chr1 228402047 OBSCN A G 44 0.719848 . . . . 0.6132 synonymous_SNV exonic . 0.6095 0.6117 0.6098 2
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76 chr1 228402121 OBSCN A G 44 0.719649 3.331 . . . 0.6122 nonsynonymous_SNV exonic T 0.6065 0.6117 0.6104 3
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77 chr1 228402508 OBSCN C T 30 0.275759 . . . . 0.4016 synonymous_SNV exonic . 0.3900 0.3857 0.3888 2
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78 chr1 228404169 OBSCN G A 1 . 2.214 . . . 0.0006 nonsynonymous_SNV exonic T . 0.0007 0.0007 5
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79 chr1 228404198 OBSCN G A 3 0.0535144 . . . . 0.0822 synonymous_SNV exonic . 0.0367 0.0404 0.0461 2
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80 chr1 228404305 OBSCN G A 1 0.00279553 -0.246 . . . 0.0171 nonsynonymous_SNV exonic T 0.0084 0.0089 0.0085 3
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81 chr1 228404997 OBSCN C T 3 0.0169728 . . . . 0.0407 . intronic . 0.0401 0.0415 0.0410 2
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82 chr1 228407010 OBSCN C T 30 0.285343 . . . . 0.4470 . intronic . . 0.3863 0.3856 2
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83 chr1 228407059 OBSCN G T 3 0.0135783 . . . . 0.0377 synonymous_SNV exonic . . 0.0369 0.0370 2
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84 chr1 228407260 OBSCN G A 30 0.277157 . . . . 0.4158 synonymous_SNV exonic . . 0.3813 0.3852 2
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85 chr1 228412227 OBSCN TG CA 30 . . . . . . nonframeshift_substitution exonic . . . . 9
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86 chr1 228412308 OBSCN G A 30 0.41254 . . . . 0.3933 synonymous_SNV exonic . 0.3925 0.3930 0.3944 2
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87 chr1 228431095 OBSCN A G 42 0.616613 . . . . 0.6797 synonymous_SNV exonic . 0.6828 0.6767 0.6910 2
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88 chr1 228432108 OBSCN C A 1 . 0.266 . . . 0.0001 nonsynonymous_SNV exonic T . 5.371e-05 . 9
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89 chr1 228432264 OBSCN A T 5 0.0171725 0.066 . . . 0.0425 nonsynonymous_SNV exonic T 0.0401 0.0419 0.0395 3
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90 chr1 228433217 OBSCN A G 42 0.616613 . . . . 0.6794 synonymous_SNV exonic . 0.6825 0.6768 0.6913 2
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91 chr1 228434395 OBSCN T C 42 0.617612 . . . . 0.6794 synonymous_SNV exonic . 0.6833 0.6768 0.6906 2
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92 chr1 228434467 OBSCN T C 42 0.66254 . . . . 0.6802 synonymous_SNV exonic . 0.6824 0.6773 0.6917 2
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93 chr1 228444565 OBSCN T A 74 1 0.030 . . . 1 nonsynonymous_SNV exonic T . 1 1 3
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94 chr1 228447463 OBSCN G A 2 0.00239617 0.355 . . . 0.0133 nonsynonymous_SNV exonic T 0.0110 0.0120 0.0103 3
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95 chr1 228451826 OBSCN C T 12 0.30631 0.352 . . . 0.2922 nonsynonymous_SNV exonic T 0.2810 0.2892 0.3003 3
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96 chr1 228452016 OBSCN G C 1 0.00399361 -1.319 . . . 0.0190 nonsynonymous_SNV exonic T 0.0195 0.0186 0.0189 3
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97 chr1 228456398 OBSCN G A 1 . 1.015 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.667e-05 7
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98 chr1 228461097 OBSCN C G 2 0.00219649 1.035 . . . 0.0079 nonsynonymous_SNV exonic T . 0.0074 0.0097 5
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99 chr1 228461129 OBSCN A G 42 0.69349 -0.541 . . . 0.6973 nonsynonymous_SNV exonic T 0.6953 0.6933 0.7098 3
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100 chr1 228461187 OBSCN T C 1 0.00958466 . . . . 0.0226 synonymous_SNV exonic . 0.0250 0.0219 0.0200 2
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101 chr1 228461757 OBSCN G A 19 0.206669 . . . . 0.1897 . intronic . 0.1774 0.1830 0.1770 2
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102 chr1 228464248 OBSCN T G 42 0.695487 -0.460 . . . 0.6998 nonsynonymous_SNV exonic T 0.6965 0.6944 0.7121 3
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103 chr1 228464255 OBSCN T C 1 0.00259585 4.777 . . . 0.0115 nonsynonymous_SNV exonic T 0.0109 0.0105 0.0102 3
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104 chr1 228464276 OBSCN T C 42 0.663538 -0.742 . . . 0.6993 nonsynonymous_SNV exonic T 0.6960 0.6931 0.7115 3
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105 chr1 228464303 OBSCN G T 1 0.00459265 1.771 . . . 0.0290 nonsynonymous_SNV exonic T 0.0278 0.0253 0.0274 3
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106 chr1 228464633 OBSCN C G 1 0.00299521 2.771 . . . 0.0069 nonsynonymous_SNV exonic T 0.0026 0.0010 0.0007 5
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107 chr1 228464713 OBSCN G A 1 . . . . . 0.0004 synonymous_SNV exonic . 0.0005 0.0001 6.688e-05 4
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108 chr1 228464842 OBSCN C G 42 0.69369 . . . . 0.7158 . intronic . 0.6953 0.6887 0.7050 2
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109 chr1 228465031 OBSCN G A 1 0.000399361 . . . . 0.0031 . intronic . 0.0022 0.0030 0.0018 4
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110 chr1 228465346 OBSCN A G 30 0.330072 3.591 . . . 0.5114 nonsynonymous_SNV exonic . . 0.3862 0.3808 3
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111 chr1 228465370 OBSCN T G 41 0.669529 . . . . 0.7351 . intronic . . 0.6986 0.7141 2
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112 chr1 228465403 OBSCN G T 1 0.102835 . . . . 0.0683 . intronic . . 0.0596 0.0611 2
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113 chr1 228465585 OBSCN G A 1 . . . . . 6.418e-05 . intronic . 0.0001 9.355e-05 6.686e-05 8
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114 chr1 228466862 OBSCN C T 3 0.0421326 . . . . 0.0370 . intronic . 0.0331 0.0355 0.0363 2
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115 chr1 228467095 OBSCN T C 1 0.00219649 2.990 . . . 0.0071 nonsynonymous_SNV exonic T 0.0089 0.0078 0.0080 5
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116 chr1 228467711 OBSCN G A 1 0.0836661 3.250 . . . 0.0370 nonsynonymous_SNV exonic T 0.0184 0.0218 0.0221 3
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117 chr1 228468179 OBSCN A C 1 0.000199681 . . . . 0.0010 . intronic . 0.0005 0.0006 0.0003 4
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118 chr1 228468244 OBSCN G A 1 0.113618 . . . . 0.0230 synonymous_SNV exonic . 0.0183 0.0219 0.0225 2
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119 chr1 228468458 OBSCN G A 15 0.31889 1.572 . . . 0.3115 nonsynonymous_SNV exonic T 0.2785 0.3061 0.3193 3
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120 chr1 228469801 OBSCN G C 4 0.0111821 5.043 . . . 0.0216 nonsynonymous_SNV exonic T 0.0219 0.0211 0.0214 3
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121 chr1 228469870 OBSCN C T 1 0.0872604 2.777 . . . 0.0222 nonsynonymous_SNV exonic T 0.0178 0.0210 0.0217 3
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122 chr1 228469903 OBSCN AG TT 1 . . . . . . nonframeshift_substitution exonic . . . . 8
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123 chr1 228470995 OBSCN G T 15 0.318091 . . . . 0.3709 . intronic . 0.2859 0.2972 0.3185 2
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124 chr1 228471379 OBSCN G C 30 0.230232 . . . . 0.3727 synonymous_SNV exonic . 0.3681 0.3719 0.3705 3
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125 chr1 228474032 OBSCN G A 1 0.00958466 . . . . 0.0081 synonymous_SNV exonic . 0.0028 0.0012 0.0009 4
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126 chr1 228475848 OBSCN G A 15 0.302716 4.107 . . . 0.3041 nonsynonymous_SNV exonic T 0.2973 0.3017 0.3168 3
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127 chr1 228476366 OBSCN GA TT 1 . . . . . . nonframeshift_substitution exonic . . . . 8
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128 chr1 228476414 OBSCN G A 1 0.0938498 . . . . 0.0225 synonymous_SNV exonic . 0.0186 0.0218 0.0224 2
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129 chr1 228480282 OBSCN A G 44 0.698882 . . . . 0.7029 synonymous_SNV exonic . 0.7022 0.6999 0.7148 2
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130 chr1 228480441 OBSCN G A 1 0.00958466 . . . . 0.0030 synonymous_SNV exonic . 0.0032 0.0012 0.0009 4
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131 chr1 228481854 OBSCN C T 2 0.000199681 . . . . 0.0006 synonymous_SNV exonic . 0.0004 0.0003 0.0003 4
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132 chr1 228481917 OBSCN G A 1 0.00878594 . . . . 0.0193 synonymous_SNV exonic . 0.0229 0.0188 0.0157 2
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133 chr1 228481940 OBSCN C T 1 . 0.911 . . . 2.997e-05 nonsynonymous_SNV exonic T 0.0001 3.581e-05 6.674e-05 9
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134 chr1 228482010 OBSCN C T 24 0.381989 . . . . 0.4961 synonymous_SNV exonic . 0.4953 0.497 0.5212 2
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135 chr1 228482028 OBSCN G C 20 0.21246 . . . . 0.1837 synonymous_SNV exonic . 0.1766 0.1808 0.1697 2
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136 chr1 228482569 OBSCN G A 4 0.0127796 . . . . 0.0324 synonymous_SNV exonic . 0.0324 0.0338 0.0346 2
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137 chr1 228486404 OBSCN C T 19 0.165935 0.548 . . . 0.1816 nonsynonymous_SNV exonic T 0.1788 0.1769 0.1673 3
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138 chr1 228491633 OBSCN G A 4 0.052516 0.427 . . . 0.0391 nonsynonymous_SNV exonic T 0.0397 0.0372 0.0372 3
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139 chr1 228492044 OBSCN G A 26 0.369209 . . . . 0.4986 synonymous_SNV exonic . 0.4905 0.4974 0.5219 2
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140 chr1 228492220 OBSCN C T 1 0.00539137 2.422 . . . 0.0176 nonsynonymous_SNV exonic T 0.0158 0.0179 0.0175 3
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141 chr1 228494144 OBSCN T G 1 . 3.953 . . . 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0008 0.0007 5
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142 chr1 228494357 OBSCN C T 19 0.166733 . . . . 0.1894 . intronic . 0.1716 0.1765 0.1683 2
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143 chr1 228494696 OBSCN G A 19 0.308506 . . . . 0.2636 synonymous_SNV exonic . 0.1945 0.2031 0.1925 2
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144 chr1 228494790 OBSCN G A 26 0.26857 2.944 . . . 0.4976 nonsynonymous_SNV exonic T 0.4939 0.4972 0.5210 3
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145 chr1 228495177 OBSCN C T 1 0.00119808 . . . . 0.0007 synonymous_SNV exonic . 0.0002 0.0005 0.0003 4
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146 chr1 228495983 OBSCN G A 1 . 2.180 . . . 0.0023 nonsynonymous_SNV exonic T 0.0017 0.0025 0.0018 5
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147 chr1 228496013 OBSCN C T 1 0.000599042 4.963 . . . 0.0007 nonsynonymous_SNV exonic T 0.0001 0.0006 0.0003 5
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148 chr1 228496014 OBSCN G A 19 0.213059 . . . . 0.2152 synonymous_SNV exonic . 0.1772 0.1819 0.1705 2
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149 chr1 228497286 OBSCN C A 1 0.0932508 . . . . 0.0227 . intronic . 0.0188 0.0218 0.0224 2
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150 chr1 228503677 OBSCN A G 44 0.700879 -2.279 . . . 0.7111 nonsynonymous_SNV exonic T 0.7056 0.6950 0.7144 3
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151 chr1 228503711 OBSCN G A 1 0.0129792 . . . . 0.0523 synonymous_SNV exonic . 0.0327 0.0380 0.0432 2
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152 chr1 228504472 OBSCN T C 44 0.699281 -1.304 . . . 0.7040 nonsynonymous_SNV exonic T 0.7008 0.6982 0.7147 3
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153 chr1 228504591 OBSCN C A 19 0.145367 1.476 . . . 0.2674 nonsynonymous_SNV exonic T 0.1672 0.1833 0.1681 3
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154 chr1 228504668 OBSCN CG CA 2 . . . . . . frameshift_deletion exonic . . . . 8
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155 chr1 228504669 OBSCN G A 16 0.145567 . . . . 0.2135 synonymous_SNV exonic . 0.1453 0.1818 0.1725 2
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156 chr1 228504670 OBSCN C T 25 0.330272 3.693 . . . 0.5071 nonsynonymous_SNV exonic T 0.4398 0.4992 0.5236 3
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157 chr1 228504700 OBSCN AGC AGCTCCC 1 . . . . . . . intronic . . . . 8
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158 chr1 228504701 OBSCN GCT GCTCCCT 35 . . . . . . . intronic . . . . 9
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159 chr1 228505204 OBSCN G A 19 0.315296 3.357 . . . 0.2095 nonsynonymous_SNV exonic T 0.1944 0.2031 0.1924 3
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160 chr1 228505257 OBSCN G A 2 0.000399361 3.689 . . . 0.0008 nonsynonymous_SNV exonic T 0.0006 0.0005 0.0002 5
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161 chr1 228505574 OBSCN C T 1 . . . . . 4.758e-05 . intronic . . 5.559e-05 6.68e-05 8
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162 chr1 228505668 OBSCN C G 44 0.699281 0.755 . . . 0.7027 nonsynonymous_SNV exonic T 0.7016 0.6997 0.7146 3
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163 chr1 228505699 OBSCN T C 44 0.705871 . . . . 0.7045 synonymous_SNV exonic . 0.7008 0.7007 0.7147 2
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164 chr1 228505727 OBSCN C T 1 0.086262 2.382 . . . 0.0226 nonsynonymous_SNV exonic T 0.0186 0.0218 0.0222 3
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165 chr1 228505739 OBSCN G A 19 0.173123 0.313 . . . 0.1804 nonsynonymous_SNV exonic T 0.1735 0.1780 0.1681 3
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166 chr1 228509427 OBSCN A G 44 0.684704 -0.311 . . . 0.7021 nonsynonymous_SNV exonic T 0.6968 0.6995 0.7147 3
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167 chr1 228520880 OBSCN C T 18 0.341853 . . . . 0.4551 . intronic . 0.4158 0.4122 0.4488 2
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168 chr1 228520973 OBSCN C G 18 0.335064 1.995 . . . 0.4651 nonsynonymous_SNV exonic T 0.4179 0.4187 0.4485 3
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169 chr1 228522483 OBSCN C T 3 0.034345 . . . . 0.0484 . intronic . 0.0328 0.0369 0.0369 2
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170 chr1 228523005 OBSCN TGGGGGT TGGGGGGT 10 0.469449 . . . . 0.4474 . intronic . 0.4253 0.6301 0.6579 2
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171 chr1 228523011 OBSCN T G 1 . . . . . . . intronic . . 0.0333 0 2
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172 chr1 228523448 OBSCN G A 2 0.352636 . . . . 0.4257 . intronic . 0.3968 0.4286 0.4463 2
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173 chr1 228523618 OBSCN G A 26 0.474241 . . . . . . intronic . 0.5195 . 0.5431 2
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174 chr1 228524961 OBSCN C A 18 0.239816 . . . . 0.4306 synonymous_SNV exonic . 0.4226 0.4274 0.4482 2
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175 chr1 228525008 OBSCN G A 15 0.0766773 4.879 . . . 0.1499 nonsynonymous_SNV exonic T 0.1356 0.1403 0.1305 4
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176 chr1 228525627 OBSCN C A 18 0.240216 . . . . 0.4565 . intronic . 0.4221 0.4218 0.4463 2
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177 chr1 228525823 OBSCN C T 1 0.000998403 6.985 . . . 0.0004 nonsynonymous_SNV exonic D 0.0004 0.0007 0.0005 10
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178 chr1 228526011 OBSCN C T 15 0.117612 . . . . 0.1745 synonymous_SNV exonic . 0.1578 0.1490 0.1545 2
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179 chr1 228526619 OBSCN G A 2 0.000399361 3.667 . . . 0.0008 nonsynonymous_SNV exonic T 0.0001 0.0005 0.0005 5
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180 chr1 228526665 OBSCN T C 26 0.494409 . . . . 0.5318 synonymous_SNV exonic . 0.5569 0.5179 0.5447 2
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181 chr1 228526742 OBSCN CCACACACACACACACACACACACACACACACACACGTCCAT CCACACACACACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACACACGTCCAT,CCACACACACACACACACACACACACACACACACACACACGTCCAT 26 . . . . . 0.1081 . intronic . . 0.1567 0.0823 2
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182 chr1 228527758 OBSCN G C 1 0.000399361 6.172 . . . 0.0006 nonsynonymous_SNV exonic D 0.0004 0.0007 0.0004 10
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183 chr1 228528412 OBSCN G A 18 0.351837 . . . . 0.4383 . intronic . 0.4247 0.4300 0.4487 2
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184 chr1 228528563 OBSCN C G 26 0.538738 0.194 . . . 0.5577 nonsynonymous_SNV exonic T 0.5203 0.5185 0.5473 3
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185 chr1 228529129 OBSCN C A 8 0.138179 . . . . 0.1101 . intronic . 0.0945 0.0990 0.1036 2
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186 chr1 228543800 OBSCN C T 8 0.172125 . . . . . . intronic . 0.0899 . 0.0976 2
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187 chr1 228547901 OBSCN C T 30 0.298722 . . . . 0.2981 synonymous_SNV exonic . 0.3011 0.2996 0.2846 2
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188 chr1 228548197 OBSCN G A 8 0.147764 -0.089 . . . 0.0996 nonsynonymous_SNV exonic T 0.0857 0.0907 0.0958 3
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189 chr1 228550344 OBSCN G A 1 0.000199681 . . . . 0.0008 synonymous_SNV exonic . 0.0007 0.0007 0.0005 4
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190 chr1 228550426 OBSCN C T 8 0.146965 -0.124 . . . 0.1364 nonsynonymous_SNV exonic T 0.0834 0.0910 0.0959 3
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191 chr1 228550429 OBSCN C T 4 0.0443291 0.627 . . . 0.0622 nonsynonymous_SNV exonic T 0.0362 0.0374 0.0360 3
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192 chr1 228553245 OBSCN C T 1 . . . . . . synonymous_SNV exonic . . 1.842e-05 . 8
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193 chr1 228556788 OBSCN C T 35 0.320487 . . . . 0.3910 . intronic . 0.3585 0.3722 0.3616 2
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194 chr1 228557681 OBSCN G A 1 . 7.200 . . . 0.0002 nonsynonymous_SNV exonic D 0.0004 0.0001 6.693e-05 10
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195 chr1 228558892 OBSCN C T 8 0.033746 6.518 . . . 0.0775 nonsynonymous_SNV exonic T 0.0650 0.0658 0.0713 3
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196 chr1 228558952 OBSCN T G 1 0.00219649 2.292 . . . 0.0158 nonsynonymous_SNV exonic T 0.0103 0.0092 0.0119 3
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197 chr1 228559167 OBSCN C A 1 . . . . . . synonymous_SNV exonic . . . . 8
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198 chr1 228559430 OBSCN G A 1 0.0217652 -0.220 . . . 0.0364 nonsynonymous_SNV exonic T 0.0309 0.0366 0.0372 3
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199 chr1 228559450 OBSCN G A 1 0.00199681 -0.731 . . . 0.0111 nonsynonymous_SNV exonic T 0.0077 0.0118 0.0099 3
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200 chr1 228559967 OBSCN C T 8 0.00499201 2.939 . . . 0.0326 nonsynonymous_SNV exonic T 0.0136 0.0139 0.0110 3
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201 chr1 228559994 OBSCN C T 46 0.589058 2.792 . . . 0.5975 nonsynonymous_SNV exonic T 0.5033 0.5120 0.4981 4
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202 chr1 228560139 OBSCN A G 70 0.974241 . . . . 0.9239 synonymous_SNV exonic . 0.9259 0.9205 0.9202 2
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203 chr1 228560426 OBSCN A C 1 . 5.647 . . . 6.506e-05 nonsynonymous_SNV exonic T . 2.699e-05 0 9
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204 chr1 228560592 OBSCN A G 2 0.000199681 . . . . 0.0007 synonymous_SNV exonic . 0.0005 0.0004 6.678e-05 4
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205 chr1 228560700 OBSCN T C 59 0.757987 . . . . 0.5550 synonymous_SNV exonic . 0.5485 0.5490 0.5350 2
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206 chr1 228562350 OBSCN T C 1 0.00519169 . . . . 0.0261 synonymous_SNV exonic . 0.0280 0.0253 0.0283 2
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207 chr1 228562438 OBSCN G A 1 0.000199681 -0.095 . . . 0.0002 nonsynonymous_SNV exonic T . 0.0002 6.684e-05 7
|
|
|
208 chr1 228564747 OBSCN G T 1 0.000199681 . . . . 0.0009 . intronic . . 0.0002 0.0002 4
|
|
|
209 chr1 228564884 OBSCN G A 9 0.140775 1.749 . . . 0.1419 nonsynonymous_SNV exonic T 0.0847 0.0935 0.0981 3
|
|
|
210 chr1 228565208 OBSCN C T 1 0.0117812 . . . . 0.0437 synonymous_SNV exonic . 0.0354 0.0385 0.0430 2
|
|
|
211 chr1 228565209 OBSCN G A 1 0.00179712 7.258 . . . 0.0019 nonsynonymous_SNV exonic T 0.0010 0.0010 0.0004 5
|
|
|
212 chr1 228566126 OBSCN G T 2 . . . . . . . intronic . . 0 . 8
|
|
|
213 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
|
|
|
214 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
|
|
|
215 chr1 229567668 ACTA1 A G 1 . . . . . . . intronic . . 9.796e-06 . 8
|
|
|
216 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
|
|
|
217 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
|
|
|
218 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
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|
|
219 chr1 236882303 ACTN2 T C 74 0.992612 . MedGen:CN169374 not_specified Benign 0.9999 synonymous_SNV exonic . 0.9998 1.0000 1 2
|
|
|
220 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
|
|
|
221 chr1 236894647 ACTN2 G A 29 0.491613 . . . . 0.3134 . intronic . 0.3102 0.3086 0.2938 2
|
|
|
222 chr1 236899042 ACTN2 G A 9 0.195887 . MedGen:CN169374 not_specified Benign 0.1386 . intronic . 0.1356 0.1341 0.1276 2
|
|
|
223 chr1 236900554 ACTN2 C T 6 0.00539137 . . . . 0.0236 . intronic . 0.0266 0.0230 0.0231 2
|
|
|
224 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
|
|
|
225 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
|
|
|
226 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
|
|
|
227 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
|
|
|
228 chr1 237527741 RYR2 G T 1 0.00239617 . . . . . . intronic . . . 0 4
|
|
|
229 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
|
|
|
230 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
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|
|
231 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
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|
|
232 chr1 237608842 RYR2 C T 1 0.00658946 . MedGen:CN169374 not_specified Benign 0.0077 . intronic . 0.0060 0.0084 0.0077 4
|
|
|
233 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
|
|
|
234 chr1 237619993 RYR2 G A 1 . 4.480 . . . . nonsynonymous_SNV exonic D . . . 9
|
|
|
235 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
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|
|
236 chr1 237632512 RYR2 T C 1 0.00299521 . . . . 0.0081 . intronic . 0.0092 0.0089 0.0080 4
|
|
|
237 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
|
|
|
238 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
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|
|
239 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
|
|
|
240 chr1 237670140 RYR2 A G 43 0.699481 . MedGen:CN169374 not_specified Benign 0.6691 . intronic . 0.6578 0.6648 0.6682 2
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|
|
241 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
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|
|
242 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
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|
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243 chr1 237765311 RYR2 TAA TA 1 . . . . . . . intronic . . . . 8
|
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244 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
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245 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
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|
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246 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
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|
|
247 chr1 237789101 RYR2 T C 1 . 1.290 . . . 0 nonsynonymous_SNV exonic T . 0 . 9
|
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248 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
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249 chr1 237802395 RYR2 G C 1 . 6.802 MedGen:C1631597,Orphanet:ORPHA3286 Catecholaminergic_polymorphic_ventricular_tachycardia Likely_pathogenic . nonsynonymous_SNV exonic D . . . 10
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|
|
250 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
|
|
|
251 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
|
|
|
252 chr1 237823256 RYR2 A C 5 0.0407348 . MedGen:CN169374 not_specified Benign 0.0776 . intronic . 0.0530 0.0532 0.0522 2
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|
|
253 chr1 237829952 RYR2 G A 1 0.00119808 . . . . . . intronic . 0.0041 . 0.0023 4
|
|
|
254 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
|
|
|
255 chr1 237850716 RYR2 C T 1 0.00139776 . . . . 0.0084 . intronic . 0.0064 0.0050 0.0042 4
|
|
|
256 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
|
|
|
257 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
|
|
|
258 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
|
|
|
259 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
|
|
|
260 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
|
|
|
261 chr1 237893674 RYR2 C T 74 0.985224 . MedGen:CN169374 not_specified Benign 0.9999 . intronic . 0.9998 0.9998 0.9998 2
|
|
|
262 chr1 237905568 RYR2 TCCTTTTTTTTTTTTTTTAAATATACA TCCCTTTTTTTTTTTTTTTAAATATACA,TCCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTAAATATACA,TCCTTTTTTTTTTTTTTTTAAATATACA 74 . . MedGen:CN169374 not_specified Likely_benign 0.0840 . intronic\x3bintronic . . . 0.0794 2
|
|
|
263 chr1 237905570 RYR2 CTTTTTTTTTTTTTTTAAATATACA CTTTTTTTTTTTTTTTTAAATATACA,CTTTTTTTTTTTTTTAAATATACA 74 . . MedGen:CN169374 not_specified Likely_benign 0.2724 . intronic\x3bintronic . . . 0.0087 2
|
|
|
264 chr1 237905571 RYR2 T C 1 . . MedGen:CN169374 not_specified Benign 0.1644 . intronic\x3bintronic . . 0.0948 0.0051 2
|
|
|
265 chr1 237923053 RYR2 C T 56 0.761581 . MedGen:CN169374 not_specified Benign 0.6849 . intronic . 0.6923 0.6833 0.6808 2
|
|
|
266 chr1 237923081 RYR2 G A 1 . 4.805 . . . . nonsynonymous_SNV exonic D . . . 9
|
|
|
267 chr1 237924352 RYR2 G A 1 . . . . . 0 . intronic . . 3.068e-05 6.661e-05 8
|
|
|
268 chr1 237941945 RYR2 G A 3 0.0445288 . MedGen:CN169374 not_specified Likely_benign 0.0427 . intronic . 0.0458 0.0452 0.0483 2
|
|
|
269 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
|
|
|
270 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
|
|
|
271 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
|
|
|
272 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
|
|
|
273 chr1 237951451 RYR2 A G 31 0.636581 . MedGen:CN169374 not_specified Benign 0.5490 . intronic . 0.5443 0.5343 0.5375 2
|
|
|
274 chr1 237957146 RYR2 G A 42 0.734026 . MedGen:CN169374 not_specified Benign 0.6639 . intronic . 0.6579 0.6539 0.6755 2
|
|
|
275 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
|
|
|
276 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
|
|
|
277 chr1 237965131 RYR2 GCATTTTTTTTTTTTGTCATTG ACATTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTTGTCATTG,ACATTTTTTTTTTTTTTGTCATTG 41 . . . . . . . intronic . . . . 9
|
|
|
278 chr1 237965133 RYR2 ATTTTTTTTTTTTGTCATTG ATTTTTTTTTTTGTCATTG 1 . . MedGen:CN169374 not_specified Benign/Likely_benign 0.1446 . intronic . . 0.1302 0.0033 2
|
|
|
279 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
|
|
|
280 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
|
|
|
281 chr1 237991767 RYR2 T C 2 0.00938498 . . . . 0.0111 . intronic . 0.0072 0.0091 0.0082 2
|
|
|
282 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
|
|
|
283 chr10 18430167 CACNB2 G C 2 0.00798722 . . . . 0.0366 . intronic . 0.0274 0.0172 0.0139 -2
|
|
|
284 chr10 18439769 CACNB2 AATAATCTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG AATAATCTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT 2 . . . . . . frameshift_substitution exonic . . . . 4
|
|
|
285 chr10 18439775 CACNB2 CTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG CTTATTTGTCTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . . . intronic . . . . 4
|
|
|
286 chr10 18439777 CACNB2 TATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TATTTGTCTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . 0.0013 . intronic\x3bintronic . . . . 0
|
|
|
287 chr10 18439779 CACNB2 TTTGTCTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . . . intronic . . . . 4
|
|
|
288 chr10 18439784 CACNB2 CTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG TTTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,CTTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG,CTTTTTTTTTTTTTTTTTTTTTTTAGTCATATGG 2 . . . . . 0.0007 . intronic . . . . 0
|
|
|
289 chr10 18439810 CACNB2 AGTCATA TGTCATA,TTTTTTT 2 . . . . . . frameshift_substitution exonic . . . . 4
|
|
|
290 chr10 18439926 CACNB2 T C 7 0.0632987 . . . . 0.1292 . intronic . 0.1213 0.1275 0.1093 -2
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291 chr10 18690063 CACNB2 TTATTTTGTCT TT 1 . . . . . . . intronic . . . . 4
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292 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
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293 chr10 18803338 CACNB2 A G 2 0.014377 . . . . 0.0720 . intronic . 0.0767 0.0752 0.0773 -2
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|
294 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
|
|
|
295 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
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|
296 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
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|
|
297 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
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|
298 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
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299 chr10 18828662 CACNB2 CG CT 7 . . MedGen:C1142166,Orphanet:ORPHA130,SNOMED_CT:418818005 Brugada_syndrome Uncertain_significance 3.196e-05 . UTR3\x3bUTR3 . . 0 . 5
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300 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
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|
|
301 chr10 18828669 CACNB2 GTTTTTTTTTTTTTTTTTTTGAAGTC GTTTTTTTTTTTTTTTTTTGAAGTC,GTTTTTTTTTTTTTTTTTGAAGTC,GCTTTTTTTTTTTTTTTTTGAAGTC,GTTTTTTTTTTTTTTTTGAAGTC,GCTTTTTTTTTTTTTTTTTTGAAGTC,TTTTTTTTTTTTTTTTTTTTGAAGTC 51 . . . . . . . UTR3 . . . . 5
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|
302 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
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303 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
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|
304 chr10 21076100 NEBL C A 1 0.221845 . . . . 0.0298 . intronic . 0.0238 0.0213 0.0177 2
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|
305 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
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|
306 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
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307 chr10 21106567 NEBL G C 1 . 2.705 . . . 1.499e-05 nonsynonymous_SNV exonic T . 8.979e-06 . 9
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308 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
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|
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309 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
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310 chr10 21112111 NEBL A T 18 0.302117 . . . . 0.3146 . intronic . 0.2187 0.2795 0.2738 2
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311 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
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312 chr10 21115347 NEBL A G 2 0.00559105 . . . . 0.0126 . intronic . 0.0131 0.0121 0.0096 2
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313 chr10 21120096 NEBL G A 1 0.000399361 . . . . 0.0003 . intronic . 0.0005 0.0003 0.0002 4
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314 chr10 21120116 NEBL A G 25 0.46905 . MedGen:CN169374 not_specified Benign 0.3503 . intronic . 0.3458 0.3524 0.3394 2
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|
|
315 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
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|
316 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
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317 chr10 21141440 NEBL AGGGAGGGT AGGAGGGT 14 0.252796 . . . . 0.2575 . intronic . 0.2555 0.2637 0.2586 2
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318 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
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319 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
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320 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
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321 chr10 21177143 NEBL GAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT GAAAAAAAAAACAGGAAAAAAATAAATAAATAAACTT,GAAAAAAAAACAGGAAAAAATAAATAAATAAACTT 1 0.540535 . . . . 0.6507 . intronic\x3bintronic . 0.6444 0.6390 0.6549 2
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322 chr10 21177156 NEBL GAAAAAAATAAATAAATAAACTT GAAAAAATAAATAAATAAACTT 46 0.540535 . . . . 0.6507 . intronic\x3bintronic . 0.6444 0.6390 0.6549 2
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323 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
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324 chr10 21462711 NEBL C T 1 . 4.391 . . . . nonsynonymous_SNV exonic T . 0 . 9
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325 chr10 67726514 CTNNA3 A C 22 0.352636 . MedGen:CN169374 not_specified Benign 0.3036 . intronic . 0.3110 0.3028 0.3127 -2
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326 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
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327 chr10 68040325 CTNNA3 C T 30 0.485024 0.202 . . . 0.3747 nonsynonymous_SNV exonic T 0.3621 0.3655 0.3892 -1
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328 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
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329 chr10 68979348 CTNNA3 T C 1 0.0323482 . . . . 0.0011 . intronic . 0.0010 0.0011 0.0009 -2
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330 chr10 69281585 CTNNA3 A C 8 0.187101 . . . . 0.1131 . intronic . 0.1113 0.1108 0.1357 -2
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331 chr10 69281732 CTNNA3 A G 3 0.0593051 . MedGen:CN169374 not_specified Benign 0.0535 . intronic . 0.0592 0.0553 0.0539 -2
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332 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
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333 chr10 69299446 CTNNA3 T A 6 0.195487 . MedGen:CN169374 not_specified Benign 0.1056 . intronic . 0.1024 0.1047 0.0960 -2
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334 chr10 69366602 CTNNA3 T C 20 0.529952 . MedGen:CN169374 not_specified Benign 0.2901 . intronic . 0.2893 0.2871 0.2905 -2
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335 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
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336 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
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337 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
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338 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
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339 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
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340 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
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341 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
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342 chr10 69909899 MYPN G A 5 0.14996 . . . . 0.0893 . intronic . 0.0826 0.0860 0.0803 2
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343 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
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344 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
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345 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
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346 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
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347 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
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348 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
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349 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
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350 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
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351 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
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352 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
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353 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
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354 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
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355 chr10 69959345 MYPN GCTGGGAC GC 31 . . . . . . . intronic . . . . 9
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356 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
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357 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
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358 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
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359 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
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360 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
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361 chr10 88441198 LDB3 C T 1 . . . . . 1.575e-05 synonymous_SNV exonic . . 9.246e-06 . 8
|
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362 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
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363 chr10 88445385 LDB3 G C 54 0.624201 . MedGen:CN169374 not_specified Benign 0.7452 . intronic . 0.7528 0.7447 0.7454 2
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364 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
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365 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
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366 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
|
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367 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
|
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368 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
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369 chr10 92678740 ANKRD1 AATAAATAAATATATATATATATATATATATATAG AATATATGTATATATAG,AATATATATAG,AATATATATATATATAG,AATATATATATATATATATATATATATAG,AATATATATATATATATATATATATATATATAG,AATATATGTATATATAGCATGAGAGATATATATATAG,AATATATATATATATATATATATATATATATATAG,AATATATGTATATATAGCATGATATATATATATATAG 12 . . . . . . . intronic . . . . 9
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370 chr10 92678744 ANKRD1 AATAA TATGT,TATAT 12 . . . . . . . intronic\x3bintronic\x3bintronic . . . . 9
|
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371 chr10 92678755 ANKRD1 ATATATAT AGCATGAGAG 1 . . . . . . . intronic . . . . 8
|
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372 chr10 92678756 ANKRD1 T G 1 . . . . . . . intronic . . . . 8
|
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373 chr10 92678765 ANKRD1 A G 27 0.441094 . . . . 0.6758 . intronic . . 0.6641 0.5462 2
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374 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
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|
375 chr10 101474499 COX15 T C 13 0.233427 . . . . 0.2828 . intronic . 0.2957 0.2904 0.3256 -1
|
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|
376 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
|
|
|
377 chr10 112404420 RBM20 G A 1 . . . . . . . intronic . . . . 8
|
|
|
378 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
|
|
|
379 chr10 112543217 RBM20 G A 52 0.788139 . . . . 0.7966 . intronic . 0.7879 0.7960 0.8062 2
|
|
|
380 chr10 112544063 RBM20 A C 46 0.633986 . . . . 0.5824 . intronic . 0.5698 0.5772 0.5783 2
|
|
|
381 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
|
|
|
382 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
|
|
|
383 chr10 112570243 RBM20 T C 32 0.316494 . . . . 0.3895 . intronic . 0.3755 0.3846 0.3705 2
|
|
|
384 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
|
|
|
385 chr10 112579854 RBM20 A G 1 . -2.871 . . . . nonsynonymous_SNV exonic T . . . 9
|
|
|
386 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
|
|
|
387 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
|
|
|
388 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
|
|
|
389 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
|
|
|
390 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
|
|
|
391 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
|
|
|
392 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
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|
|
393 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
|
|
|
394 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
|
|
|
395 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
|
|
|
396 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
|
|
|
397 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
|
|
|
398 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
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|
|
399 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
|
|
|
400 chr11 2797320 KCNQ1 A G 46 0.668331 . . . . 0.6840 . intronic . 0.6891 0.6784 0.6863 2
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401 chr11 2798305 KCNQ1 T C 18 0.223842 . . . . 0.2406 . intronic . 0.2302 0.2356 0.2468 2
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402 chr11 2799299 KCNQ1 G T 1 0.0133786 . . . . 0.0484 . intronic . 0.0511 0.0514 0.0608 2
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403 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
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404 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
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405 chr11 6630223 ILK G C 1 . . . . . . . intronic . . . . 8
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406 chr11 6630410 ILK T C 12 0.120807 . . . . 0.2542 . intronic . 0.2548 0.2530 0.2603 2
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407 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
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408 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
|
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409 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
|
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410 chr11 6631300 ILK G A 1 0.00579073 . . . . 0.0173 . intronic . 0.0177 0.0164 0.0124 2
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411 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
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412 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
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413 chr11 47353498 MYBPC3 G A 9 0.356629 . . . . . . intronic . 0.1747 . 0.1750 4
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414 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
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415 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
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416 chr11 47354905 MYBPC3 T C 12 0.0329473 . MedGen:CN169374 not_specified Benign 0.1510 . intronic . 0.1060 0.1074 0.1200 2
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417 chr11 47356582 MYBPC3 GGGGC AGGGG 1 . . . . . . . intronic . . . . 8
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418 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
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419 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
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420 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
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421 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
|
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422 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
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423 chr11 47362642 MYBPC3 C T 3 0.00898562 . MedGen:CN169374 not_specified Benign 0.0272 . intronic . 0.0192 0.0218 0.0229 2
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424 chr11 47364259 MYBPC3 G C 1 . . MedGen:CN169374 not_specified Likely_benign 9.002e-05 synonymous_SNV exonic . . 8.057e-05 0 8
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425 chr11 47365199 MYBPC3 G A 22 0.249601 . MedGen:CN169374 not_specified Benign 0.3310 . intronic . 0.3084 0.3074 0.2921 4
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426 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
|
|
|
427 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
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428 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
|
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429 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
|
|
|
430 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
|
|
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431 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
|
|
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432 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
|
|
|
433 chr11 47371697 MYBPC3 T C 1 . . . . . 0.0001 . intronic . . 1.77e-05 6.672e-05 8
|
|
|
434 chr11 47372096 MYBPC3 C A 1 . . . . . . synonymous_SNV exonic . . . . 8
|
|
|
435 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
|
|
|
436 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
|
|
|
437 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
|
|
|
438 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
|
|
|
439 chr11 118037813 SCN2B G T 35 0.514377 . MedGen:CN169374 not_specified Benign 0.4739 . intronic . 0.4707 0.4661 0.4683 -1
|
|
|
440 chr11 118047045 SCN2B C T 1 0.00199681 . . . . 0.0030 . intronic . 0.0023 0.0031 0.0018 0
|
|
|
441 chr11 123504945 SCN3B G A 1 0.000199681 . . . . 0.0016 . intronic . 0.0020 0.0017 0.0014 0
|
|
|
442 chr11 123504959 SCN3B C G 44 0.750599 . . . . 0.5550 . intronic . 0.5523 0.5519 0.5424 -2
|
|
|
443 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
|
|
|
444 chr11 123524411 SCN3B G A 3 0.142173 . . . . 0.1402 . intronic . 0.1395 0.1415 0.1368 -2
|
|
|
445 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
|
|
|
446 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
|
|
|
447 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
|
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|
448 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
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449 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
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450 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
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451 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
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452 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
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453 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
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454 chr12 2558298 CACNA1C GTT ATC 22 . . . . . . . intronic . . . . 9
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455 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
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456 chr12 2613589 CACNA1C T G 1 . . . . . . . intronic . . . . 8
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457 chr12 2613716 CACNA1C C T 11 0.0782748 . MedGen:CN169374 not_specified Benign 0.0824 . intronic . 0.0868 0.0817 0.0716 2
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458 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
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459 chr12 2659082 CACNA1C G T 23 0.294928 . . . . 0.3105 . intronic . 0.2256 0.2304 0.2286 2
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460 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
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461 chr12 2706687 CACNA1C C T 1 . . . . . . . intronic . . . . 8
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462 chr12 2706720 CACNA1C G C 73 0.951278 . . . . . . intronic . 0.9739 . 0.9762 2
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463 chr12 2715862 CACNA1C G A 1 . . . . . 2.477e-05 . intronic . . 2.063e-05 0 8
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464 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
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465 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
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466 chr12 2757752 CACNA1C AGAGTCCCT AGAGCCCCT 2 0.666933 . . . . . . intronic\x3bintronic . . . 0.8137 2
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467 chr12 2757755 CACNA1C GTCCCT GCCCCT 4 0.666933 . . . . . . intronic\x3bintronic . . . 0.8137 2
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468 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
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469 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
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470 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
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471 chr12 2786236 na CTC CC 1 . . . . . 0 . ncRNA_exonic . . 1.827e-05 . 4
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472 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
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473 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
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474 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
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475 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
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476 chr12 2789641 CACNA1C G A 1 . 0.352 . . . . nonsynonymous_SNV exonic T . . . 9
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477 chr12 2789686 CACNA1C TC CG 1 . . . . . . nonframeshift_substitution exonic . . . . 8
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478 chr12 2789697 CACNA1C AGGAG GGGAC 1 . . . . . . nonframeshift_substitution exonic . . . . 8
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479 chr12 2789718 CACNA1C CT TG 1 . . . . . . nonframeshift_substitution exonic . . . . 8
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480 chr12 2789737 CACNA1C G C 1 . -0.302 . . . . nonsynonymous_SNV exonic T . . . 9
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481 chr12 2789755 na TC CT 1 . . . . . . . ncRNA_intronic . . . . 4
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482 chr12 2791130 CACNA1C CGA TGG,CGG 1 . . . . . . frameshift_deletion exonic . . . . 8
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483 chr12 2791205 CACNA1C A G 74 1 . MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic . 1 1 1 3
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484 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
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485 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
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486 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
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487 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
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488 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
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489 chr12 21965027 ABCC9 A C 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.97e-06 . 8
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490 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
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491 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
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492 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
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493 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
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494 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
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495 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
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496 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
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497 chr12 22017486 ABCC9 C G 74 0.998203 . . . . . . intronic . 1 . 1 2
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498 chr12 22059054 ABCC9 A G 1 . . . . . 1.502e-05 . intronic . . 1.798e-05 . 8
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499 chr12 22061007 ABCC9 T G 1 . . MedGen:CN230736 Cardiovascular_phenotype Uncertain_significance 0.0001 . intronic . 0.0003 8.094e-05 0 6
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500 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
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501 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
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502 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
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503 chr12 22066006 ABCC9 GAAAAAAAAAAGAAAAAAAAAACAGATGT GAAAAAAAAAGAAAAAAAAAACAGATGT 3 . . . . . 0.0229 . intronic . 0.0198 0.0199 0.0168 2
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504 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
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505 chr12 32945486 PKP2 G T 3 0.0339457 . . . . . . intronic . 0.0283 . 0.0253 2
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506 chr12 32945495 PKP2 C T 43 0.450479 . . . . . . intronic . . . 0.6571 2
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507 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
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508 chr12 32949251 PKP2 AACA AAA,AAAA 8 . . . . . 0.0198 . intronic . . 0.0092 0.0007 2
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509 chr12 32949252 PKP2 ACA AA 5 0.304912 . MedGen:CN169374 not_specified Benign 0.1115 . intronic\x3bintronic . 0.1207 0.0915 0.1204 2
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510 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
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511 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
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512 chr12 32974391 PKP2 CAA CA 1 . . . . . . frameshift_deletion exonic . . . . 8
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513 chr12 32996137 PKP2 GAA AAT 2 . . . . . . nonframeshift_substitution exonic . . . . 8
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514 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
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515 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
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516 chr12 33030841 PKP2 CCGCCTGGCCGACAGT CCAGG 1 . . . . . . frameshift_substitution exonic . . . . 8
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517 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
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518 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
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519 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
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520 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
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|
|
521 chr12 98940228 TMPO ATTCA ATTTCA 5 0.086262 . MedGen:CN169374 not_specified Benign 0.0751 . intronic . 0.0840 0.0760 0.0844 2
|
|
|
522 chr12 98941637 TMPO A G 1 0.00279553 . MedGen:CN169374 not_specified Likely_benign 0.0050 . UTR3 . 0.0059 0.0050 0.0037 4
|
|
|
523 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
|
|
|
524 chr12 111350999 MYL2 G A,T 1 0.00439297 . . . . 0.0142 . intronic . . 0.0155 0.0181 2
|
|
|
525 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
|
|
|
526 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
|
|
|
527 chr12 111351186 MYL2 C T 4 0.102636 . MedGen:CN517202 not_provided not_provided . . intronic . 0.0644 . 0.0727 2
|
|
|
528 chr12 111351963 MYL2 GACACACACACACACACACG GACACACACACACACACACACG 2 . . MedGen:CN169374 not_specified Likely_benign 0.0905 . intronic . 0.0653 0.1604 0.0740 2
|
|
|
529 chr12 111351973 MYL2 CA CAGA 1 . . . . . . . intronic . . . . 8
|
|
|
530 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
|
|
|
531 chr12 111358266 MYL2 C T 1 0.0155751 . . . . . . intronic . 0.0116 . 0.0145 2
|
|
|
532 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
|
|
|
533 chr14 23854272 MYH6 T C 4 0.072484 . MedGen:CN169374 not_specified Benign 0.0877 . intronic . 0.0844 0.0831 0.0785 3
|
|
|
534 chr14 23855233 MYH6 C T 1 . . . . . 4.5e-05 synonymous_SNV exonic . . 2.687e-05 . 8
|
|
|
535 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
|
|
|
536 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
|
|
|
537 chr14 23855849 MYH6 C T 21 0.235224 . MedGen:CN169374 not_specified Benign 0.2676 . intronic . 0.2634 0.2645 0.2387 2
|
|
|
538 chr14 23856714 MYH6 G A 3 0.019369 . . . . 0.0409 . intronic . 0.0417 0.0379 0.0341 2
|
|
|
539 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
|
|
|
540 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
|
|
|
541 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
|
|
|
542 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
|
|
|
543 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
|
|
|
544 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
|
|
|
545 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
|
|
|
546 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
|
|
|
547 chr14 23865885 MYH6 G A 30 0.367812 . MedGen:CN169374 not_specified Benign 0.3548 . intronic . 0.3628 0.3529 0.3604 2
|
|
|
548 chr14 23866146 MYH6 G C 2 0.0325479 . . . . 0.0144 . intronic . 0.0124 0.0122 0.0097 2
|
|
|
549 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
|
|
|
550 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
|
|
|
551 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
|
|
|
552 chr14 23871840 MYH6 G T 1 0.00119808 . . . . 0.0066 . intronic . 0.0060 0.0072 0.0058 4
|
|
|
553 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
|
|
|
554 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
|
|
|
555 chr14 23873021 MYH6 C T 3 0.0455272 . . . . 0.0377 . intronic . 0.0364 0.0340 0.0294 2
|
|
|
556 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
|
|
|
557 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
|
|
|
558 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
|
|
|
559 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
|
|
|
560 chr14 23876216 MYH6 G A 3 0.0497204 . MedGen:CN169374 not_specified Benign 0.0298 . intronic . 0.0364 0.0329 0.0297 2
|
|
|
561 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
|
|
|
562 chr14 23882144 MYH7 T C 32 0.384385 . . . . . . intronic . 0.3705 . 0.3720 2
|
|
|
563 chr14 23883184 MYH7 C T 13 0.134984 . MedGen:CN169374 not_specified Benign 0.1570 . intronic . 0.1524 0.1562 0.1659 2
|
|
|
564 chr14 23884353 MYH7 C T 1 . 7.265 MedGen:CN517202 not_provided Pathogenic . nonsynonymous_SNV exonic D . 8.952e-06 . 10
|
|
|
565 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
|
|
|
566 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
|
|
|
567 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
|
|
|
568 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
|
|
|
569 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
|
|
|
570 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
|
|
|
571 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
|
|
|
572 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
|
|
|
573 chr14 23895233 MYH7 C T 1 . 6.690 . . . . nonsynonymous_SNV exonic D . . . 10
|
|
|
574 chr14 23898507 MYH7 G A 1 . . . . . . synonymous_SNV exonic . . 0 . 8
|
|
|
575 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
|
|
|
576 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
|
|
|
577 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
|
|
|
578 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
|
|
|
579 chr14 23900093 MYH7 C T 2 0.0471246 . MedGen:CN169374 not_specified Likely_benign 0.0095 . intronic . 0.0091 0.0080 0.0064 3
|
|
|
580 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
|
|
|
581 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
|
|
|
582 chr14 23901996 MYH7 C T 1 . . MedGen:CN169374 not_specified Likely_benign 6.005e-05 synonymous_SNV exonic . 0.0002 3.585e-05 . 6
|
|
|
583 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
|
|
|
584 chr14 73664718 PSEN1 T C 7 0.0189696 . . . . 0.0703 . intronic . 0.0523 0.0552 0.0516 2
|
|
|
585 chr14 73664853 PSEN1 G T 42 0.671526 . MedGen:CN169374 not_specified Benign 0.5730 . intronic . 0.5613 0.5520 0.5399 2
|
|
|
586 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
|
|
|
587 chr14 73673219 PSEN1 G A 1 0.00139776 . . . . 0.0002 . intronic . 0.0002 0.0002 0.0001 4
|
|
|
588 chr14 76425702 TGFB3 T G 1 . . . . . . . intronic . . . . 8
|
|
|
589 chr14 76432050 TGFB3 G C 1 0.00119808 . MedGen:CN169374 not_specified Likely_benign 0.0003 . intronic . 0.0003 0.0003 0.0004 4
|
|
|
590 chr14 90863489 CALM1 G A 62 0.716054 . . . . . . UTR5 . 0.8852 . 0.8792 -2
|
|
|
591 chr14 90863643 CALM1 TTTTGTTTGT TTTTGT 1 . . . . . . . intronic . . . . 4
|
|
|
592 chr14 90866346 CALM1 C T 41 0.484425 . . . . . . intronic . 0.6245 . 0.6196 -2
|
|
|
593 chr15 35083508 LOC101928174 TCACACACACACACACACACACACACACACACACACACACACACACAT TCACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACACACACACACACAT,TCACACACACACACACACACACACACACACAT 41 . . . . . . . ncRNA_intronic . . . 0.1698 -2
|
|
|
594 chr15 35084392 ACTC1 G A 1 . 6.658 . . . . nonsynonymous_SNV exonic D . . . 10
|
|
|
595 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
|
|
|
596 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
|
|
|
597 chr15 63354009 TPM1 G C 2 0.00898562 . MedGen:CN169374 not_specified Likely_benign 0.0139 . intronic . 0.0128 0.0136 0.0118 2
|
|
|
598 chr15 63358032 TPM1 CTTTTTTTTTTTTTTCTCATTGTG CTTTTTTTTTTTTTCTCATTGTG 7 . . . . . . . intronic . . . 0.1093 2
|
|
|
599 chr15 63362179 TPM1 G A 1 0.0247604 . . . . 0.0002 . UTR3 . 0.0005 0.0003 0.0001 2
|
|
|
600 chr15 63363401 TPM1 CGT CATTTTGTTTTGT,CATTTTGT 1 0.32528 . . . . 0.2517 . UTR3 . . . 0.2721 2
|
|
|
601 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
|
|
|
602 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
|
|
|
603 chr15 73615205 HCN4 C T 1 . 4.641 . . . 8.7e-05 nonsynonymous_SNV exonic D . 7.372e-05 . 5
|
|
|
604 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
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|
|
605 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
|
|
|
606 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
|
|
|
607 chr15 73617804 HCN4 G T 1 0.00339457 . MedGen:CN169374 not_specified Benign 0.0099 . intronic . 0.0145 0.0111 0.0124 -2
|
|
|
608 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
|
|
|
609 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
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|
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610 chr17 8192202 SLC25A35 C G 1 0.00179712 . MedGen:CN169374 not_specified Benign 0.0005 . UTR3 . 0.0006 0.0003 0.0002 0
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611 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
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|
|
612 chr17 8192922 na C T 5 0.141573 . MedGen:CN169374 not_specified Benign 0.0422 . UTR3 . 0.0433 0.0388 0.0423 -2
|
|
|
613 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
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|
|
614 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
|
|
|
615 chr17 39913645 JUP T C 61 0.717252 . MedGen:CN169374 not_specified Benign 0.7393 . intronic . 0.7456 0.7450 0.7532 2
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|
|
616 chr17 39913995 JUP G A 1 0.000199681 . MedGen:CN517202 not_provided Benign 1.563e-05 synonymous_SNV exonic . . 2.747e-05 . 6
|
|
|
617 chr17 39919361 JUP G A 1 . . MedGen:CN169374 not_specified Likely_benign 3e-05 synonymous_SNV exonic . . 8.962e-06 . 8
|
|
|
618 chr17 39923614 JUP A G 67 0.744209 . MedGen:CN169374 not_specified Benign 0.8096 . intronic . 0.8084 0.8138 0.8146 2
|
|
|
619 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
|
|
|
620 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
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|
|
621 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
|
|
|
622 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
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|
|
623 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
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|
624 chr18 28648200 DSC2 C T 6 0.0199681 . . . . 0.0538 . intronic . 0.0607 0.0592 0.0586 2
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|
|
625 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
|
|
|
626 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
|
|
|
627 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
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|
|
628 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
|
|
|
629 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
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|
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630 chr18 29078304 DSG2 G T 1 . . . . . . . intronic . . . . 8
|
|
|
631 chr18 29078333 DSG2 C G 1 0.0189696 . . . . . . intronic . . . 0.0168 2
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|
|
632 chr18 29101215 DSG2 CTTTTTTTTTTTTTTTAATAAATAAATAC CTTTTTTTTTTTTTTAAATAAATAAATAC,CTTTTTTTTTTTTTTAATAAATAAATAC 1 . . MedGen:CN169374 not_specified Uncertain_significance 0.3557 . intronic . . 0.3808 0.0109 2
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633 chr18 29104564 DSG2 C A 13 0.211462 . MedGen:CN169374 not_specified Benign 0.2552 . intronic . 0.2609 0.2574 0.2649 2
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|
634 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
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|
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635 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
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|
|
636 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
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|
|
637 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
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|
638 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
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|
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639 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
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|
|
640 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
|
|
|
641 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
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|
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642 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
|
|
|
643 chr18 32335915 DTNA A G 4 0.0479233 . MedGen:CN169374 not_specified Benign 0.0835 . intronic . 0.0780 0.0825 0.0878 2
|
|
|
644 chr18 32400909 DTNA ACA AA 5 0.114617 . . . . 0.1093 . intronic . 0.1147 0.1120 0.1290 2
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|
|
645 chr18 32418186 DTNA T A 16 0.204073 . . . . 0.2563 . intronic . 0.2615 0.2592 0.2637 2
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|
|
646 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
|
|
|
647 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
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|
|
648 chr18 32455379 DTNA T C 3 0.128195 . MedGen:CN169374 not_specified Benign 0.1218 . intronic . 0.1264 0.1216 0.1417 2
|
|
|
649 chr18 32459615 DTNA G A 1 . . MedGen:CN169374 not_specified Likely_benign 0 synonymous_SNV exonic . . 8.953e-06 0 8
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650 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
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|
651 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
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652 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
|
|
|
653 chr19 16593415 CALR3 G A 55 0.660144 . . . . 0.7113 . intronic . 0.7048 0.7067 0.7043 3
|
|
|
654 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
|
|
|
655 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
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|
|
656 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
|
|
|
657 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
|
|
|
658 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
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|
659 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
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|
|
660 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
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|
661 chr19 35530514 SCN1B T G 5 0.0081869 . . . . 0.0144 . intronic . 0.015 0.0144 0.0155 -2
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|
662 chr19 35530525 SCN1B C A 5 0.00798722 . MedGen:CN169374 not_specified Benign 0.0145 . intronic . 0.0151 0.0145 0.0156 -2
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|
663 chr19 35530641 SCN1B G A 1 0.000399361 . . . . 0.0052 . intronic . 0.0041 0.0037 0.0021 0
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664 chr19 47109176 CALM3 A G 3 . . . . . . . intronic . 0.0016 . 0.0016 0
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|
|
665 chr19 47111591 CALM3 G T 1 . 3.363 . . . . nonsynonymous_SNV exonic D . . . 5
|
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|
666 chr19 47112261 CALM3 C G 1 . . . . . . . intronic . . 0 . 4
|
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|
667 chr19 47112357 CALM3 CCTCTCTCTCTG CCTCTCTCTG 1 0.00599042 . MedGen:CN169374 not_specified Likely_benign 0.0179 . intronic . 0.0251 0.0189 0.0224 -2
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668 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
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|
|
669 chr19 47259117 FKRP C A 1 . -1.212 . . . . nonsynonymous_SNV exonic D . . . 9
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670 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
|
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|
671 chr19 47259135 FKRP G A 1 . 0.418 . . . . nonsynonymous_SNV exonic D . 0 . 9
|
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|
672 chr19 47259469 FKRP C A 1 . . . . . . synonymous_SNV exonic . . . . 8
|
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673 chr19 49661071 TRPM4 C A 2 . . . . . . . UTR5 . . . . 8
|
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|
674 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
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|
|
675 chr19 49661439 TRPM4 C T 1 . . MedGen:CN169374 not_specified Likely_benign 8.999e-05 . intronic . 0.0002 0.0001 . 6
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676 chr19 49661547 TRPM4 A G 15 0.223642 . . . . 0.1388 . intronic . 0.1345 0.1361 0.1317 2
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|
677 chr19 49661582 TRPM4 T C 59 0.599441 . . . . . . intronic . 0.8564 . 0.8580 2
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678 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
|
|
|
679 chr19 49671503 TRPM4 C T 1 0.00938498 . MedGen:CN169374 not_specified Benign 0.0001 . intronic . 0.0005 9.857e-05 0.0002 4
|
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680 chr19 49674841 TRPM4 G A 1 . 2.465 . . . 0.0001 nonsynonymous_SNV exonic T . 7.196e-05 . 9
|
|
|
681 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
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|
|
682 chr19 49675233 TRPM4 C T 5 0.0914537 . . . . 0.0488 . intronic . 0.0421 0.0454 0.0403 2
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683 chr19 49684586 TRPM4 T A 1 0.0145767 . MedGen:CN169374 not_specified Benign 0.0576 . intronic . 0.0581 0.0601 0.0640 3
|
|
|
684 chr19 49692023 TRPM4 C T 1 . . . . . . synonymous_SNV exonic . . 8.957e-06 . 8
|
|
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685 chr19 49693461 TRPM4 A C 1 . . MedGen:CN169374 not_specified Likely_benign 0.0001 . intronic . 0.0001 8.959e-05 0 8
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686 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
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687 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
|
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688 chr19 49714439 TRPM4 G A 1 . 1.618 . . . 7.334e-05 nonsynonymous_SNV exonic T . 3.956e-05 . 9
|
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689 chr19 49714732 TRPM4 C G 2 0.0203674 . MedGen:CN169374 not_specified Benign 0.0039 . intronic . 0.0027 0.0037 0.0029 2
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690 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
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691 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
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692 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
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693 chr19 55668397 TNNI3 C T 6 0.0477236 . MedGen:CN169374 not_specified Benign 0.1201 . intronic . 0.0622 0.0708 0.0655 2
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694 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
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695 chr19 55669004 TNNI3 G A 1 0.00259585 . MedGen:CN169374 not_specified Likely_benign 0.0113 . UTR5 . 0.0094 0.0105 0.0086 2
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696 chr2 47387986 CALM2 GACCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC GACCAAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,GACCAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 1 . . . . . 0.0770 . intronic\x3bintronic . . . . -2
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697 chr2 47387988 CALM2 CCAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CCAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 1 . . . . . . . intronic . . . . 4
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698 chr2 47387989 CALM2 CAAAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC CAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAATCACATTTACTC,CAAAAAAAAAAAAAAAAAAAAAATCACATTTACTC 1 . . . . . 0.0086 . intronic . . . . 0
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699 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
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700 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
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701 chr2 105977903 FHL2 G C 5 0.305511 . MedGen:CN169374 not_specified Benign 0.1310 . intronic . 0.1364 0.1332 0.1422 2
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702 chr2 105979730 FHL2 C A 11 0.277356 . MedGen:CN169374 not_specified Benign 0.3779 . intronic . 0.3766 0.3798 0.3795 3
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703 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
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704 chr2 105979872 FHL2 G A 1 . 1.339 . . . . synonymous_SNV exonic T . . . 8
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705 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
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706 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
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707 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
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|
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708 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
|
|
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709 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
|
|
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710 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
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|
|
711 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
|
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712 chr2 179397150 TTN T C 1 . 2.595 MedGen:CN169374 not_specified Uncertain_significance 0 nonsynonymous_SNV exonic T . 0 . 9
|
|
|
713 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
|
|
|
714 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
|
|
|
715 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
|
|
|
716 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
|
|
|
717 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
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718 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
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|
|
719 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
|
|
|
720 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
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|
|
721 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
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|
|
722 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
|
|
|
723 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
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|
|
724 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
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725 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
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|
|
726 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
|
|
|
727 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
|
|
|
728 chr2 179412442 TTN A G 1 . 1.832 . . . . nonsynonymous_SNV exonic T . . . 9
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729 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
|
|
|
730 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
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|
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731 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
|
|
|
732 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
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|
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733 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
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|
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734 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
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|
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735 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
|
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736 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
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|
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737 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
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738 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
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739 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
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740 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
|
|
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741 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
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742 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
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|
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743 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
|
|
|
744 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
|
|
|
745 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
|
|
|
746 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
|
|
|
747 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
|
|
|
748 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
|
|
|
749 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
|
|
|
750 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
|
|
|
751 chr2 179441947 TTN C T 1 . 3.130 . . . . nonsynonymous_SNV exonic D . . . 9
|
|
|
752 chr2 179442546 TTN A G 1 . . . . . 7.564e-05 synonymous_SNV exonic . . 6.365e-05 . 8
|
|
|
753 chr2 179444137 na A G 8 0.347444 . MedGen:CN169374 not_specified Benign 0.1730 . ncRNA_intronic . 0.1688 0.1675 0.1758 -2
|
|
|
754 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
|
|
|
755 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
|
|
|
756 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
|
|
|
757 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
|
|
|
758 chr2 179448315 na A C 1 0.0391374 . MedGen:CN169374 not_specified Benign 0.0375 . ncRNA_exonic . 0.0227 0.0248 0.0255 -2
|
|
|
759 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
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|
|
760 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
|
|
|
761 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
|
|
|
762 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
|
|
|
763 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
|
|
|
764 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
|
|
|
765 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
|
|
|
766 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
|
|
|
767 chr2 179457856 na AAGTTA AA 1 . . . . . . . ncRNA_intronic . . . . 4
|
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|
768 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
|
|
|
769 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
|
|
|
770 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
|
|
|
771 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
|
|
|
772 chr2 179466017 TTN C T 1 . . . . . 1.555e-05 synonymous_SNV exonic . . 9.731e-06 . 8
|
|
|
773 chr2 179469697 na G C 1 . . MedGen:CN169374 not_specified Likely_benign 3.062e-05 . ncRNA_exonic . . 2.882e-05 . 4
|
|
|
774 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
|
|
|
775 chr2 179472825 na T C 1 0.0107827 . MedGen:CN169374 not_specified Benign 0.0247 . ncRNA_intronic . 0.0226 0.0225 0.0215 -2
|
|
|
776 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
|
|
|
777 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
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778 chr2 179476243 TTN G A 1 . 3.937 . . . 4.508e-05 nonsynonymous_SNV exonic T . 3.636e-05 . 9
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779 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
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|
|
780 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
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|
|
781 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
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782 chr2 179481370 na G A 1 . . . . . . . ncRNA_intronic . . . . 4
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783 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
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|
|
784 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
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|
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785 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
|
|
|
786 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
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|
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787 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
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|
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788 chr2 179505367 MIR548N AAGATTA AA 1 . . . . . . . ncRNA_intronic . . . . 4
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789 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
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790 chr2 179516580 MIR548N G C 1 0.00838658 . . . . 0.0298 . ncRNA_intronic . 0.0231 0.0211 0.0218 -2
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791 chr2 179516680 TTN C G 1 . 2.264 . . . . nonsynonymous_SNV exonic T . . . 9
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792 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
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793 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
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794 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
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795 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
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796 chr2 179539903 MIR548N C A 6 0.471246 . . . . . . ncRNA_intronic . 0.2126 . 0.2194 -1
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797 chr2 179541899 TTN C G 2 0.773363 . . . . 0.7155 . intronic . . 0.7180 0.7498 2
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798 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
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799 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
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800 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
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801 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
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802 chr2 179548694 TTN GATTTTTTTTTTTTTTTTAAGAG GATTTTTTTTTTTTTTTAAGAG 1 . . . . . 0.4608 . intronic\x3bintronic . . 0.4476 0.1442 2
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803 chr2 179548695 TTN ATTTTTTTTTTTTTTTTAAGAG ATTTTTTTTTTTTTTTAAGAG,ATTTTTTTTTTTTTTTTTAAGAG 1 . . . . . 0.0310 . intronic . . 0.0385 0.0061 2
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804 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
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805 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
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806 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
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807 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
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808 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
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809 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
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810 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
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811 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
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812 chr2 179578108 TTN TACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT TACAAAACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT,AACAAAACAAAACAAAACAAAACAAAACAAAAAAAACAAAGGACAACAAT 1 . . . . . . . intronic . . . . 8
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|
|
813 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
|
|
|
814 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
|
|
|
815 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
|
|
|
816 chr2 179579786 TTN G A 1 . . . . . . synonymous_SNV exonic . . . . 8
|
|
|
817 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
|
|
|
818 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
|
|
|
819 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
|
|
|
820 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
|
|
|
821 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
|
|
|
822 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
|
|
|
823 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
|
|
|
824 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
|
|
|
825 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
|
|
|
826 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
|
|
|
827 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
|
|
|
828 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
|
|
|
829 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
|
|
|
830 chr2 179595117 TTN C G 4 0.348043 . MedGen:CN169374 not_specified Benign 0.1836 . intronic . 0.1789 0.1770 0.1788 3
|
|
|
831 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
|
|
|
832 chr2 179597007 TTN T C 1 . . . . . . synonymous_SNV exonic . . . . 8
|
|
|
833 chr2 179598139 TTN C A 1 . 3.544 . . . . nonsynonymous_SNV exonic D . . . 9
|
|
|
834 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
|
|
|
835 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
|
|
|
836 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
|
|
|
837 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
|
|
|
838 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
|
|
|
839 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
|
|
|
840 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
|
|
|
841 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
|
|
|
842 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
|
|
|
843 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
|
|
|
844 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
|
|
|
845 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
|
|
|
846 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
|
|
|
847 chr2 179616770 TTN GAAAAAAAAAAAAAAACCTTT GAAAAAAAAAAAAAACCTTT,GAAAAAAAAAAAAACCTTT 26 0.120008 . MedGen:CN169374 not_specified Likely_benign 0.2294 . intronic . . 0.1667 0.1230 2
|
|
|
848 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
|
|
|
849 chr2 179621477 TTN C T 26 0.999002 . MedGen:CN169374 not_specified Benign/Likely_benign 1 nonsynonymous_SNV exonic . 1 1.0000 1 3
|
|
|
850 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
|
|
|
851 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
|
|
|
852 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
|
|
|
853 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
|
|
|
854 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
|
|
|
855 chr2 179632710 TTN T C 21 0.503994 . . . . 0.7975 . intronic . 0.7988 0.7994 0.7977 2
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|
|
856 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
|
|
|
857 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
|
|
|
858 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
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|
|
859 chr2 179635919 TTN C T 2 0.0155751 . MedGen:CN169374 not_specified Benign 0.0360 . intronic . 0.0377 0.0369 0.0349 2
|
|
|
860 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
|
|
|
861 chr2 179638314 TTN CGGT CGC 1 . . . . . . frameshift_substitution exonic . . . . 8
|
|
|
862 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
|
|
|
863 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
|
|
|
864 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
|
|
|
865 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
|
|
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866 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
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|
|
867 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
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|
|
868 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
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|
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869 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
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|
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870 chr2 179659108 TTN T C 1 0.00119808 . MedGen:CN169374 not_specified Benign 0.0031 . intronic . 0.0021 0.0029 0.0032 4
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|
871 chr2 179659294 TTN C T 1 0.000998403 . MedGen:CN169374 not_specified Benign 0.0012 . intronic . 0.0014 0.0011 0.0005 4
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|
|
872 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
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873 chr2 179669244 TTN GAAAAAAAAACAAAAGTG GAAAAAAAAAACAAAAGTG 1 0.00419329 . . . . 0.0057 . intronic . 0.0045 0.0018 0.0002 4
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874 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
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|
875 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
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876 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
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|
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877 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
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878 chr2 220284779 DES C T 13 0.529353 . MedGen:CN169374 not_specified Benign 0.6272 . intronic . 0.6303 0.6307 0.6482 2
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|
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879 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
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880 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
|
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|
881 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
|
|
|
882 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
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|
|
883 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
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|
|
884 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
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|
|
885 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
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886 chr20 30414560 MYLK2 C G 10 0.0720847 . . . . 0.0789 . intronic . 0.08 0.0782 0.0654 -2
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887 chr20 30414578 MYLK2 G A 4 0.0201677 . . . . 0.0432 . intronic . 0.0469 0.0444 0.0400 -2
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888 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
|
|
|
889 chr20 30419834 MYLK2 C T 1 . . . . . 1.981e-05 synonymous_SNV exonic . . 9.568e-06 0 4
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|
|
890 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
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891 chr20 31996708 SNTA1 A G 1 . . . . . 7.575e-05 . intronic . 0.0002 9.92e-05 . 2
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892 chr20 32031112 SNTA1 C A 1 . . . . . . . intronic . . . . 4
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|
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893 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
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894 chr20 32031208 SNTA1 C A 2 . . . . . . synonymous_SNV exonic . . . . 4
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|
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895 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
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|
|
896 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
|
|
|
897 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
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898 chr20 42744945 JPH2 G A 1 . -0.233 . . . . nonsynonymous_SNV exonic T . . . 9
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899 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
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|
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900 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
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901 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
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|
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902 chr20 42814955 JPH2 A C 1 . . MedGen:CN169374 not_specified Likely_benign 7.525e-05 . intronic . . 7.245e-05 0.0001 8
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|
903 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
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904 chr20 61039958 GATA5 T C 44 0.629193 . . . . 0.5152 synonymous_SNV exonic . 0.5094 0.5142 0.5374 -2
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905 chr20 61040453 GATA5 C G 38 0.534545 . . . . 0.4912 synonymous_SNV exonic . 0.4841 0.4921 0.5042 -2
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|
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906 chr20 61040951 GATA5 C T 38 0.529553 . . . . 0.5459 synonymous_SNV exonic . 0.4776 0.4787 0.4993 -2
|
|
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907 chr20 61048549 GATA5 G A 38 0.388179 . . . . 0.4679 synonymous_SNV exonic . 0.4344 0.4383 0.4330 -2
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908 chr20 61050223 GATA5 C A 1 . 2.136 . . . . nonsynonymous_SNV exonic D . . . 5
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909 chr20 61050238 GATA5 T C 1 . -0.649 . . . . nonsynonymous_SNV exonic T . . . 5
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910 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
|
|
|
911 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
|
|
|
912 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
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|
|
913 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
|
|
|
914 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
|
|
|
915 chr22 19868255 TXNRD2 AGGGGGGCCA AGGGGGCCA 12 0.156749 . MedGen:CN169374 not_specified Benign 0.1660 . intronic . 0.1610 0.1565 0.1480 2
|
|
|
916 chr22 19870831 TXNRD2 C T 24 0.221645 . MedGen:CN169374 not_specified Benign 0.3069 . intronic . 0.2962 0.3038 0.3008 3
|
|
|
917 chr22 19870995 TXNRD2 CAGAGAGG CAGAGG 1 . . . . . . . intronic . . 1.791e-05 . 8
|
|
|
918 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
|
|
|
919 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
|
|
|
920 chr22 19885548 TXNRD2 G T 15 0.242212 . MedGen:CN169374 not_specified Benign 0.2105 . intronic . 0.1568 0.1687 0.1568 4
|
|
|
921 chr22 19898886 TXNRD2 C T 10 0.171526 . MedGen:CN169374 not_specified Benign 0.0908 . intronic . 0.0903 0.0908 0.1058 2
|
|
|
922 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
|
|
|
923 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
|
|
|
924 chr22 19905801 TXNRD2 CG CA 4 . . . . . . . intronic . . . . 8.5
|
|
|
925 chr22 19905802 TXNRD2 G A 41 0.7498 . . . . . . intronic . 0.5597 . 0.5638 2
|
|
|
926 chr22 19906370 TXNRD2 G A 3 0.0297524 . MedGen:CN169374 not_specified Benign 0.0248 . intronic . 0.0297 0.0276 0.0226 2
|
|
|
927 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
|
|
|
928 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
|
|
|
929 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
|
|
|
930 chr22 19907192 TXNRD2 A G 45 0.754393 . . . . . . intronic . 0.5575 . 0.5641 2
|
|
|
931 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
|
|
|
932 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
|
|
|
933 chr3 8775702 CAV3 G A 4 0.076877 . MedGen:CN517202 not_provided not_provided 0.0556 . intronic . 0.0499 0.0503 0.0580 -2
|
|
|
934 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
|
|
|
935 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
|
|
|
936 chr3 14174146 TMEM43 T C 9 0.557308 . . . . 0.3973 . intronic . 0.4069 0.3989 0.4133 2
|
|
|
937 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
|
|
|
938 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
|
|
|
939 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
|
|
|
940 chr3 32188248 GPD1L GAG GG 1 0.101637 . . . . 0.0185 . intronic . 0.0194 0.0189 0.0159 -2
|
|
|
941 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
|
|
|
942 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
|
|
|
943 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
|
|
|
944 chr3 38622465 SCN5A TCT TCC 2 . . . . . . frameshift_deletion exonic . . . . 8
|
|
|
945 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
|
|
|
946 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
|
|
|
947 chr3 38640484 SCN5A C T 2 . -0.893 . . . . nonsynonymous_SNV exonic T . . . 9
|
|
|
948 chr3 38645420 SCN5A T C 7 0.230431 -1.102 . . . 0.2246 nonsynonymous_SNV exonic T 0.2321 0.2301 0.2467 3
|
|
|
949 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
|
|
|
950 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
|
|
|
951 chr3 38739574 SCN10A T C 26 1 0.227 MedGen:CN169374 not_specified Benign 1 nonsynonymous_SNV exonic T . 1 1 -1
|
|
|
952 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
|
|
|
953 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
|
|
|
954 chr3 38739857 SCN10A C T 1 . 6.248 . . . . nonsynonymous_SNV exonic D . . . 6
|
|
|
955 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
|
|
|
956 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
|
|
|
957 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
|
|
|
958 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
|
|
|
959 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
|
|
|
960 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
|
|
|
961 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
|
|
|
962 chr3 52485839 TNNC1 T A 1 . 2.734 . . . . nonsynonymous_SNV exonic T . . . 9
|
|
|
963 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
|
|
|
964 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
|
|
|
965 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
|
|
|
966 chr3 57850505 SLMAP CTTTTTTTTTTTTGGAC CTTTTTTTTTTTGGAC 1 . . . . . 0.2750 . intronic . . 0.2514 0.0026 -2
|
|
|
967 chr3 57857438 SLMAP TAT TGT 1 0.0147764 . MedGen:CN169374 not_specified Benign 0.0489 . intronic . 0.0506 0.0523 0.0452 -2
|
|
|
968 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
|
|
|
969 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
|
|
|
970 chr3 57898434 SLMAP T A 1 . . . . . 3.231e-05 . intronic . . 1.851e-05 . 4
|
|
|
971 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
|
|
|
972 chr3 57908594 SLMAP CTTTTTTTTTCTTTGCC CTTTTTTTTCTTTGCC 9 0.1875 . . . . 0.1998 . intronic . 0.1907 0.2014 0.1827 -2
|
|
|
973 chr3 196771513 DLG1 G A 2 0.0251597 4.635 . . . 0.0535 nonsynonymous_SNV exonic T 0.0471 0.0510 0.0556 3
|
|
|
974 chr3 196771554 DLG1 T C 2 0.0253594 . . . . 0.0535 synonymous_SNV exonic . 0.0470 0.0517 0.0557 2
|
|
|
975 chr3 196778438 DLG1 C T 11 0.264577 . . . . 0.2687 . intronic . 0.28 0.2717 0.2591 2
|
|
|
976 chr3 196792163 DLG1 C T 1 0.00419329 7.123 . . . 0.0247 nonsynonymous_SNV exonic T 0.0245 0.0250 0.0240 3
|
|
|
977 chr3 196812473 DLG1 C T 1 . 7.595 . . . . nonsynonymous_SNV exonic D 0.0001 8.967e-06 . 10
|
|
|
978 chr3 196865242 DLG1 C T 8 0.127995 4.417 . . . 0.1487 nonsynonymous_SNV exonic T 0.1473 0.1455 0.1379 3
|
|
|
979 chr3 196869688 DLG1 A G 26 0.993211 . . . . 1.0000 . intronic . 0.9999 1.0000 1 2
|
|
|
980 chr3 196876600 DLG1 G A 4 0.0766773 . . . . 0.1784 . intronic . 0.1783 0.1725 0.1723 2
|
|
|
981 chr3 196921360 DLG1 T C 1 0.0145767 2.040 . . . 0.0470 nonsynonymous_SNV exonic T 0.0443 0.0453 0.0511 3
|
|
|
982 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
|
|
|
983 chr4 114161619 ANK2 T C 1 0.00279553 . . . . 0.0110 . intronic . 0.0116 0.0122 0.0117 2
|
|
|
984 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
|
|
|
985 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
|
|
|
986 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
|
|
|
987 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
|
|
|
988 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
|
|
|
989 chr4 114275600 ANK2 C T 1 . . . . . 3e-05 synonymous_SNV exonic . . 2.695e-05 . 8
|
|
|
990 chr4 114276330 ANK2 G A 1 . 1.905 . . . 1.499e-05 nonsynonymous_SNV exonic T . 0 . 9
|
|
|
991 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
|
|
|
992 chr4 114276880 ANK2 TTCAA CTCAG 4 . . . . . . nonframeshift_substitution exonic . . . . 8.5
|
|
|
993 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
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994 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
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995 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
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996 chr4 114286357 ANK2 ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC,ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGTGTC 4 . . . . . 0.0456 . intronic . . . 0.1155 2
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997 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
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998 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
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999 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
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1000 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
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1001 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
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1002 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
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1003 chr4 186423655 PDLIM3 G A 5 0.139177 . MedGen:CN169374 not_specified Benign 0.1615 . intronic . 0.1602 0.1637 0.1652 2
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1004 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
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1005 chr4 186456617 PDLIM3 A G 26 0.948283 . . . . 0.9997 . UTR5 . 0.9993 0.9996 0.9997 2
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1006 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
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1007 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
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|
|
1008 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
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|
|
1009 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
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|
|
1010 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
|
|
|
1011 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
|
|
|
1012 chr5 231143 SDHA T C 4 0.247404 . . . . 0.1276 . intronic . 0.1356 0.1278 0.1139 3
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|
|
1013 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
|
|
|
1014 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
|
|
|
1015 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
|
|
|
1016 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
|
|
|
1017 chr5 37294473 NUP155 T C 7 0.277157 . . . . 0.3075 synonymous_SNV exonic . 0.2929 0.2896 0.2895 2
|
|
|
1018 chr5 37307389 NUP155 T C 1 0.0589058 . . . . 0.0429 . intronic . 0.0406 0.0425 0.0498 2
|
|
|
1019 chr5 37309371 NUP155 TAGAAGAGG TAGAGG 7 0.269169 . . . . 0.3044 . intronic . 0.2911 0.2847 0.2869 2
|
|
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1020 chr5 37333727 NUP155 A G 9 0.355032 . . . . 0.1704 synonymous_SNV exonic . 0.1599 0.1620 0.1693 2
|
|
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1021 chr5 37341352 NUP155 T C 4 0.188698 . . . . 0.2136 . intronic . 0.2115 0.2132 0.2138 2
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1022 chr5 37348573 NUP155 C A 1 0.0127796 . . . . 0.0001 . intronic . 0.0002 0.0001 6.668e-05 2
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|
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1023 chr5 37350390 NUP155 C A 8 0.33766 . . . . 0.1666 . intronic . 0.1597 0.1619 0.1696 2
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|
1024 chr5 37364443 NUP155 C T 26 0.969649 . . . . 1.0000 synonymous_SNV exonic . 0.9999 0.9999 0.9999 2
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|
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1025 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
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|
|
1026 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
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|
|
1027 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
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|
|
1028 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
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|
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1029 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
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|
|
1030 chr6 7566745 DSP GAAAAAAAAAAACTTT GAAAAAAAAAACTTT 1 . . . . . 0.0296 . intronic . 0.0298 0.0075 0.0002 2
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|
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1031 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
|
|
|
1032 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
|
|
|
1033 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
|
|
|
1034 chr6 7578819 DSP TAGCG GAGCA 20 . . . . . . . intronic . . . . 9
|
|
|
1035 chr6 7580243 DSP G C 1 . 3.491 . . . . nonsynonymous_SNV exonic D . . . 9
|
|
|
1036 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
|
|
|
1037 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
|
|
|
1038 chr6 7584611 DSP C T 1 0.000399361 . . . . 0 synonymous_SNV exonic . . 0 0 6
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|
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1039 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
|
|
|
1040 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
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|
|
1041 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
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|
|
1042 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
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|
|
1043 chr6 76554593 MYO6 G A 26 0.997804 . . . . 0.9853 . intronic . 0.9868 0.9856 0.9873 2
|
|
|
1044 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
|
|
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1045 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
|
|
|
1046 chr6 76596728 MYO6 C T 14 0.147764 . MedGen:CN169374 not_specified Benign 0.3227 . intronic . 0.3349 0.3302 0.3225 4
|
|
|
1047 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
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1048 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
|
|
|
1049 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
|
|
|
1050 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
|
|
|
1051 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
|
|
|
1052 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
|
|
|
1053 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
|
|
|
1054 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
|
|
|
1055 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
|
|
|
1056 chr6 112471688 LAMA4 G C 5 0.3127 . . . . 0.2714 . intronic . 0.2797 0.2705 0.2618 3
|
|
|
1057 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
|
|
|
1058 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
|
|
|
1059 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
|
|
|
1060 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
|
|
|
1061 chr6 112506583 LAMA4 G T 20 0.900559 . . . . 0.7137 . intronic . 0.7115 0.7083 0.7025 2
|
|
|
1062 chr6 112508769 LAMA4 TG GT 26 . . MedGen:CN169374 not_specified Benign . nonframeshift_substitution exonic . . . . 9
|
|
|
1063 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
|
|
|
1064 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
|
|
|
1065 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
|
|
|
1066 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
|
|
|
1067 chr6 123539904 TRDN C T 13 0.375998 . MedGen:CN169374 not_specified Benign 0.5013 . intronic . 0.4593 0.4754 0.4510 -2
|
|
|
1068 chr6 123581789 TRDN GAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG GAAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG,AAAAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG,GAAAAAAAAAAAAAAGAATGTAGAAAGAAAGG 13 . . . . . 0.0295 . intronic . . 0.0212 0.0010 -2
|
|
|
1069 chr6 123594181 TRDN T G 1 . . . . . . . intronic . . . . 4
|
|
|
1070 chr6 123595869 TRDN A C 2 0.263179 . . . . . . intronic . 0.1708 . 0.1901 -2
|
|
|
1071 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
|
|
|
1072 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
|
|
|
1073 chr6 123687403 TRDN A G 1 . . . . . . . intronic . . . . 4
|
|
|
1074 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
|
|
|
1075 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
|
|
|
1076 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
|
|
|
1077 chr6 123702499 TRDN G A 7 0.476238 . MedGen:CN169374 not_specified Benign 0.3708 . intronic . 0.3270 0.3220 0.3635 -1
|
|
|
1078 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
|
|
|
1079 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
|
|
|
1080 chr6 123851610 TRDN G A 18 0.497404 . . . . 0.6181 . intronic . . 0.6339 0.6409 -2
|
|
|
1081 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
|
|
|
1082 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
|
|
|
1083 chr6 133782375 EYA4 T A 4 0.201278 . . . . . . intronic . 0.0669 . 0.0603 2
|
|
|
1084 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
|
|
|
1085 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
|
|
|
1086 chr6 133827354 TARID A G 17 0.722244 . . . . 0.5672 . ncRNA_exonic . 0.5607 0.5633 0.5620 -2
|
|
|
1087 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
|
|
|
1088 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
|
|
|
1089 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
|
|
|
1090 chr6 152454618 SYNE1 T C 1 . 2.612 . . . 1.518e-05 nonsynonymous_SNV exonic T . 8.958e-06 . 9
|
|
|
1091 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
|
|
|
1092 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
|
|
|
1093 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
|
|
|
1094 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
|
|
|
1095 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
|
|
|
1096 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
|
|
|
1097 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
|
|
|
1098 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
|
|
|
1099 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
|
|
|
1100 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
|
|
|
1101 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
|
|
|
1102 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
|
|
|
1103 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
|
|
|
1104 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
|
|
|
1105 chr6 152570274 SYNE1 A G 1 0.0607029 . . . . 0.0782 . intronic . 0.0780 0.0786 0.0692 2
|
|
|
1106 chr6 152570415 SYNE1 G A 15 0.680711 . MedGen:CN169374 not_specified Benign 0.6208 . intronic . 0.6098 0.6133 0.6467 2
|
|
|
1107 chr6 152577752 SYNE1 T C 3 0.0764776 . MedGen:CN169374 not_specified Benign 0.0622 . intronic . 0.0598 0.0592 0.0500 2
|
|
|
1108 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
|
|
|
1109 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
|
|
|
1110 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
|
|
|
1111 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
|
|
|
1112 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
|
|
|
1113 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
|
|
|
1114 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
|
|
|
1115 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
|
|
|
1116 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
|
|
|
1117 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
|
|
|
1118 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
|
|
|
1119 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
|
|
|
1120 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
|
|
|
1121 chr6 152658141 SYNE1 CT AC,CC 2 . . . . . . frameshift_deletion exonic . . . . 8
|
|
|
1122 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
|
|
|
1123 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
|
|
|
1124 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
|
|
|
1125 chr6 152671475 SYNE1 A C 16 0.58746 . MedGen:CN169374 not_specified Benign 0.6003 . intronic . 0.6098 0.6049 0.6074 2
|
|
|
1126 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
|
|
|
1127 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
|
|
|
1128 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
|
|
|
1129 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
|
|
|
1130 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
|
|
|
1131 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
|
|
|
1132 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
|
|
|
1133 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
|
|
|
1134 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
|
|
|
1135 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
|
|
|
1136 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
|
|
|
1137 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
|
|
|
1138 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
|
|
|
1139 chr6 152751218 SYNE1 ATAGTAGA ATAGA 7 . . MedGen:CN169374 not_specified Likely_benign 0.1868 . intronic . 0.1354 0.1288 0.1291 2
|
|
|
1140 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
|
|
|
1141 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
|
|
|
1142 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
|
|
|
1143 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
|
|
|
1144 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
|
|
|
1145 chr6 152793412 SYNE1 C A 16 0.855232 . MedGen:CN169374 not_specified Benign 0.7166 . intronic . 0.7044 0.7070 0.7065 2
|
|
|
1146 chr6 152793572 SYNE1 TAAA AAAG,TAAG 16 . . . . . . . intronic . . . . 9
|
|
|
1147 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
|
|
|
1148 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
|
|
|
1149 chr6 152847335 SYNE1 G A 7 0.264177 . MedGen:CN169374 not_specified Benign 0.3249 . intronic . 0.3233 0.3243 0.3317 2
|
|
|
1150 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
|
|
|
1151 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
|
|
|
1152 chr7 81591716 CACNA2D1 T G 5 0.230232 . . . . 0.3482 . intronic . 0.3168 0.3118 0.3041 -2
|
|
|
1153 chr7 81593454 CACNA2D1 G A 8 0.257987 . . . . 0.2096 . intronic . 0.2076 0.2123 0.1978 -2
|
|
|
1154 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
|
|
|
1155 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
|
|
|
1156 chr7 81620630 CACNA2D1 C T 1 . . . . . . . intronic . . . . 4
|
|
|
1157 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
|
|
|
1158 chr7 81641570 LOC101927356 GAAAAAAAAAAAAAGTCG GAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAGTCG,GAAAAAAAAAAAAAAAAAGTCG 6 0.221046 . MedGen:CN169374 not_specified Benign 0.1156 . ncRNA_intronic . . 0.1431 0.2453 -2
|
|
|
1159 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
|
|
|
1160 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
|
|
|
1161 chr7 81765996 CACNA2D1 CAAAAAAAAAAGAACGC CAAAAAAAAAAAGAACGC,CAAAAAAAAAAGAATGC 1 . . . . . 0 . intronic . 0.0001 0 6.714e-05 4
|
|
|
1162 chr7 81799966 CACNA2D1 G A 1 0.0139776 . . . . 0.0244 . intronic . 0.0274 0.0265 0.0216 -2
|
|
|
1163 chr7 81799990 CACNA2D1 T C 1 0.0609026 . . . . . . intronic . 0.0292 . 0.0218 -2
|
|
|
1164 chr7 81799996 CACNA2D1 C G 1 0.0609026 . . . . . . intronic . 0.0289 . 0.0218 -2
|
|
|
1165 chr7 81964578 CACNA2D1 GAAAAAAAAAACTAG GAAAAAAAAAAACTAG 10 0.16254 . MedGen:CN169374 not_specified Benign 0.2135 . intronic . 0.2010 0.2304 0.2180 -2
|
|
|
1166 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
|
|
|
1167 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
|
|
|
1168 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
|
|
|
1169 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
|
|
|
1170 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
|
|
|
1171 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
|
|
|
1172 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
|
|
|
1173 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
|
|
|
1174 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
|
|
|
1175 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
|
|
|
1176 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
|
|
|
1177 chr7 91714092 AKAP9 ATTTTTTTTTTTTTAACAG ATTTTTTTTTTTTAACAG 1 . . . . . 0.1956 . intronic . . 0.1726 0.0035 2
|
|
|
1178 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
|
|
|
1179 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
|
|
|
1180 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
|
|
|
1181 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
|
|
|
1182 chr7 92085669 GATAD1 C T 1 . . . . . 1.541e-05 . intronic . . 6.533e-05 0.0002 6
|
|
|
1183 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
|
|
|
1184 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
|
|
|
1185 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
|
|
|
1186 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
|
|
|
1187 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
|
|
|
1188 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
|
|
|
1189 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
|
|
|
1190 chr7 150655219 KCNH2 C T 2 . 5.033 . . . . nonsynonymous_SNV exonic D . . . 10
|
|
|
1191 chr7 150655361 KCNH2 C A 2 . . . . . . synonymous_SNV exonic . . . . 8
|
|
|
1192 chr7 151262385 PRKAG2 T C 5 0.0171725 . . . . 0.0411 . intronic . 0.0316 0.0351 0.0340 -2
|
|
|
1193 chr7 151262528 PRKAG2 A C 1 0.00239617 . . . . . . intronic . . . 0.0008 0
|
|
|
1194 chr7 151267353 PRKAG2 G A 3 0.144169 . MedGen:CN169374 not_specified Benign 0.1175 . intronic . 0.1105 0.1131 0.1201 -2
|
|
|
1195 chr7 151329255 PRKAG2 A G 1 . . . . . 5.705e-05 . UTR5 . . 3.368e-05 . 4
|
|
|
1196 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
|
|
|
1197 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
|
|
|
1198 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
|
|
|
1199 chr9 71668197 FXN T C 17 0.501597 . . . . 0.5290 . intronic . 0.5149 0.5285 0.5132 2
|
|
|
1200 chr9 103348319 MURC C T 1 . . . . . 1.499e-05 synonymous_SNV exonic . . 8.977e-06 . 8
|
|
|
1201 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
|
|
|
1202 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
|
|
|
1203 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
|
|
|
1204 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
|
|
|
1205 chr9 108370092 FKTN G T 1 . . MedGen:CN169374 not_specified Uncertain_significance . . intronic . . . . 8
|
|
|
1206 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
|
|
|
1207 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
|
|
|
1208 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
|
|
|
1209 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
|
|
|
1210 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
|
|
|
1211 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
|
|
|
1212 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
|
|
|
1213 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
|
|
|
1214 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
|
|
|
1215 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
|
|
|
1216 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
|
|
|
1217 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
|
|
|
1218 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
|
|
|
1219 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
|
|
|
1220 chrX 32459449 DMD A G 2 0.0010596 . MedGen:CN169374 not_specified Benign 0.0104 . intronic . 0.0089 0.0099 0.0107 2
|
|
|
1221 chrX 32472763 DMD CTTTTTTTTTTTTTACCTTCA CTTTTTTTTTTTTTTACCTTCA,CTTTTTTTTTTTTACCTTCA 2 . . MedGen:CN169374 not_specified Benign 0.0578 . intronic . 0.1409 0.0768 0.0021 2
|
|
|
1222 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
|
|
|
1223 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
|
|
|
1224 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
|
|
|
1225 chrX 32591811 DMD A G 14 0.0731126 . MedGen:CN169374 not_specified Benign 0.1289 . intronic . 0.1216 0.1272 0.1260 2
|
|
|
1226 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
|
|
|
1227 chrX 32613880 DMD T A 2 . 3.637 . . . . nonsynonymous_SNV exonic T . . . 9
|
|
|
1228 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
|
|
|
1229 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
|
|
|
1230 chrX 100653950 na T C 12 0.16106 . MedGen:CN169374 not_specified Benign 0.1191 . intronic . 0.1205 0.1202 0.1226 -2
|
|
|
1231 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
|
|
|
1232 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
|
|
|
1233 chrX 108868153 KCNE5 G A 9 0.0519205 -2.020 . . . 0.1836 nonsynonymous_SNV exonic T 0.1424 0.1677 0.1475 -1
|
|
|
1234 chrX 119573169 LAMP2 G A 1 . . . . . 0.0005 . intronic . 0.0001 0.0004 9.446e-05 4
|
|
|
1235 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
|
|
|
1236 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
|
|
|
1237 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
|
|
|
1238 chrX 135279350 FHL1 C A 1 . . . . . . . intronic . . . . 8
|
|
|
1239 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
|
|
|
1240 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
|
|
|
1241 chrX 153641619 TAZ C T 3 0.00450331 . . . . 0.0100 . intronic . 0.0089 0.0089 0.0057 4
|
|
|
1242 chrX 153648032 TAZ C T 2 . . . . . . . intronic . . . . 8
|
|
|
1243 chrX 153648156 TAZ C T 2 . . . . . . . intronic . . . . 8
|
|
|
1244 chr3 12626632 RAF1 T G 3 . 3.634 . . . 1.498e-05 nonsynonymous_SNV exonic T . 8.968e-06 . 9
|
|
|
1245 chr7 91726576 AKAP9 C T 3 . 11.961 . . . . stopgain exonic . . . . 13
|
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1246 chr7 91737871 AKAP9 C G 2 . 12.107 . . . . stopgain exonic . . 8.955e-06 . 13
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1247 chr6 7569521 DSP G GG 1 . . . . . . frameshift_insertion exonic . . . . 8
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1248 chr1 156100468 LMNA TCTGCTGAAC TCTGCTGAACTCTGCTGAAC 7 . . . . . . frameshift_insertion exonic . . . . 9
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1249 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
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1250 chr1 78401654 NEXN AAT A 14 . . . . . . frameshift_deletion exonic . . . . 9
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1251 chr2 179434234 TTN AC A 4 . . . . . . frameshift_deletion exonic . . . . 8.5
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