1269 chr2 211456637 211456637 1 + A G rs1047883 211456637 + 211456617 211456657 41 ATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAA ATGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCTGGAAA Direct Loss 1 0.129121298763884 1 0.153220117092133 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456637 chr2:211456637 nonsynonymous SNV 0.417 1 21 hm1A_associated_SNPs_15 2 other not specified RCV000116829.5
1269 chr2 211456637 211456637 1 + A G rs1047883 211456637 + 211456617 211456657 41 ATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAA ATGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCTGGAAA Direct Loss 1 0.129121298763884 1 0.153220117092133 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456637 chr2:211456637 nonsynonymous SNV 0.417 1 21 hm1A_associated_SNPs_15 2 Benign Congenital hyperammonemia, type I RCV000364698.1
1269 chr6 7580958 7580958 1 + A G rs2076299 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA GAGATTACAAAGGGTCCAGTGTGACCTGCAGAAAGCAAACA Direct Loss 1 0.285561301946461 1 0.502802789211273 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580958 nonsynonymous SNV 0.889 0 21 hm1A_associated_SNPs_27 6 Benign not specified RCV000038050.4
1269 chr6 7580958 7580958 1 + A G rs2076299 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA GAGATTACAAAGGGTCCAGTGTGACCTGCAGAAAGCAAACA Direct Loss 1 0.285561301946461 1 0.502802789211273 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580958 nonsynonymous SNV 0.889 0 21 hm1A_associated_SNPs_27 6 Benign Cardiovascular phenotype RCV000247265.1
1269 chr6 7580958 7580958 1 + A G rs2076299 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA GAGATTACAAAGGGTCCAGTGTGACCTGCAGAAAGCAAACA Direct Loss 1 0.285561301946461 1 0.502802789211273 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580958 nonsynonymous SNV 0.889 0 21 hm1A_associated_SNPs_27 6 Benign Cardiomyopathy, ARVC RCV000301876.1
1269 chr6 7580958 7580958 1 + A G rs2076299 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA GAGATTACAAAGGGTCCAGTGTGACCTGCAGAAAGCAAACA Direct Loss 1 0.285561301946461 1 0.502802789211273 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580958 nonsynonymous SNV 0.889 0 21 hm1A_associated_SNPs_27 6 Benign Epidermolysis bullosa, lethal acantholytic RCV000307957.1
1269 chr6 7580958 7580958 1 + A G rs2076299 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA GAGATTACAAAGGGTCCAGTGTGACCTGCAGAAAGCAAACA Direct Loss 1 0.285561301946461 1 0.502802789211273 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580958 nonsynonymous SNV 0.889 0 21 hm1A_associated_SNPs_27 6 Benign Ectodermal dysplasia skin fragility syndrome RCV000364929.1
1269 chr6 7580958 7580958 1 + A G rs2076299 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA GAGATTACAAAGGGTCCAGTGTGACCTGCAGAAAGCAAACA Direct Loss 1 0.285561301946461 1 0.502802789211273 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580958 nonsynonymous SNV 0.889 0 21 hm1A_associated_SNPs_27 6 Benign Skin fragility woolly hair syndrome RCV000390835.1
1269 chr9 80944838 80944838 1 + A G rs41277905 80944838 + 80944818 80944858 41 GGTTGTTTTTCAATTATGCCATTAAACTAAACATTTCTGTT GGTTGTTTTTCAATTATGCCGTTAAACTAAACATTTCTGTT Direct Loss 1 0.554825604937839 1 0.937973737716675 experiment 1 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control PSAT1 ENSG00000135069 UTR3 Human protein_coding chr9:80944838 chr9:80944838 . . 0 21 hm1A_associated_SNPs_46 1 Uncertain significance Phosphoserine aminotransferase deficiency RCV000288589.1
1269 chr9 131375701 131375701 1 + A G rs1415568 131375701 + 131375681 131375721 41 GAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCT GAAGATTATGGCAAAGACCTGGCTTCTGTGAACAACCTGCT Direct Loss 1 0.169750931744609 1 0.0785200297832489 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131375701 chr9:131375701 synonymous SNV . 0 21 hm1A_associated_SNPs_48 2 Benign not specified RCV000128256.2
1269 chr9 131375701 131375701 1 + A G rs1415568 131375701 + 131375681 131375721 41 GAAGATTATGGCAAAGACCTAGCTTCTGTGAACAACCTGCT GAAGATTATGGCAAAGACCTGGCTTCTGTGAACAACCTGCT Direct Loss 1 0.169750931744609 1 0.0785200297832489 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131375701 chr9:131375701 synonymous SNV . 0 21 hm1A_associated_SNPs_48 2 Benign Early infantile epileptic encephalopathy RCV000471996.1
1269 chr9 139981627 139981627 1 + A G rs968733 139981627 + 139981607 139981647 41 GACGCTGAGCTTTGGCGAGAACTATGACAACAGCAAGAGTT GACGCTGAGCTTTGGCGAGAGCTATGACAACAGCAAGAGTT Direct Loss 1 0.777292704327827 1 0.951843023300171 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139981627 chr9:139981627 nonsynonymous SNV 0.959 0 21 hm1A_associated_SNPs_49 2 Likely benign not specified RCV000117582.2
1269 chr9 139981627 139981627 1 + A G rs968733 139981627 + 139981607 139981647 41 GACGCTGAGCTTTGGCGAGAACTATGACAACAGCAAGAGTT GACGCTGAGCTTTGGCGAGAGCTATGACAACAGCAAGAGTT Direct Loss 1 0.777292704327827 1 0.951843023300171 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139981627 chr9:139981627 nonsynonymous SNV 0.959 0 21 hm1A_associated_SNPs_49 2 Benign Intellectual Disability, Recessive RCV000277681.1
1269 chr10 69882038 69882038 1 + A G rs74143022 69882038 + 69882018 69882058 41 TTACGGAGCAGAGAAGTTCCAGAAGGAACTCGAGTACAGTT TTACGGAGCAGAGAAGTTCCGGAAGGAACTCGAGTACAGTT Direct Loss 1 0.709336847539342 1 0.953569054603577 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MYPN ENSG00000138347 CDS Human protein_coding chr10:69882038 chr10:69882038 synonymous SNV . 0 21 hm1A_associated_SNPs_51 4 not provided not provided RCV000024519.3
1269 chr10 69882038 69882038 1 + A G rs74143022 69882038 + 69882018 69882058 41 TTACGGAGCAGAGAAGTTCCAGAAGGAACTCGAGTACAGTT TTACGGAGCAGAGAAGTTCCGGAAGGAACTCGAGTACAGTT Direct Loss 1 0.709336847539342 1 0.953569054603577 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MYPN ENSG00000138347 CDS Human protein_coding chr10:69882038 chr10:69882038 synonymous SNV . 0 21 hm1A_associated_SNPs_51 4 Benign not specified RCV000180993.2
1269 chr10 69882038 69882038 1 + A G rs74143022 69882038 + 69882018 69882058 41 TTACGGAGCAGAGAAGTTCCAGAAGGAACTCGAGTACAGTT TTACGGAGCAGAGAAGTTCCGGAAGGAACTCGAGTACAGTT Direct Loss 1 0.709336847539342 1 0.953569054603577 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MYPN ENSG00000138347 CDS Human protein_coding chr10:69882038 chr10:69882038 synonymous SNV . 0 21 hm1A_associated_SNPs_51 4 Benign Cardiovascular phenotype RCV000248135.1
1269 chr10 69882038 69882038 1 + A G rs74143022 69882038 + 69882018 69882058 41 TTACGGAGCAGAGAAGTTCCAGAAGGAACTCGAGTACAGTT TTACGGAGCAGAGAAGTTCCGGAAGGAACTCGAGTACAGTT Direct Loss 1 0.709336847539342 1 0.953569054603577 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MYPN ENSG00000138347 CDS Human protein_coding chr10:69882038 chr10:69882038 synonymous SNV . 0 21 hm1A_associated_SNPs_51 4 Benign Dilated cardiomyopathy 1KK RCV000477357.1
1269 chr12 32896366 32896366 1 + A T rs3200103 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGAGTCTTTGTTGACTCAAAACTTG Direct Loss 1 0.174381566368463 1 0.190852552652359 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896366 . . 0 21 hm1A_associated_SNPs_59 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000275050.1
1269 chr12 32896366 32896366 1 + A T rs3200103 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGAGTCTTTGTTGACTCAAAACTTG Direct Loss 1 0.174381566368463 1 0.190852552652359 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896366 . . 0 21 hm1A_associated_SNPs_59 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000313747.1
1269 chr12 32896366 32896366 1 + A T rs3200103 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGAGTCTTTGTTGACTCAAAACTTG Direct Loss 1 0.174381566368463 1 0.190852552652359 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896366 . . 0 21 hm1A_associated_SNPs_59 3 Benign Lethal Encephalopathy RCV000332280.1
1269 chr21 47424502 47424502 1 + A G rs183666840 47424502 + 47424482 47424522 41 CTCCTCAGCTTGGGGCAGCCATTGGCCTCTGTCTCGTTTTG CTCCTCAGCTTGGGGCAGCCGTTGGCCTCTGTCTCGTTTTG Direct Loss 1 0.61858742722679 1 0.982319176197052 experiment 1 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control COL6A1 ENSG00000142156 UTR3 Human protein_coding chr21:47424502 chr21:47424502 . . 0 21 hm1A_associated_SNPs_95 1 Likely benign Collagen VI-related myopathy RCV000345379.1
1269 chr22 41903813 41903813 1 + A C rs137831 41903813 + 41903793 41903833 41 AGACTGAACCGGCCGCTGACACTCTCGGAGAAGATTGTGTA AGACTGAACCGGCCGCTGACCCTCTCGGAGAAGATTGTGTA Direct Loss 1 0.686951388670686 1 0.728695869445801 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control ACO2 ENSG00000100412 CDS Human protein_coding chr22:41903813 chr22:41903813 synonymous SNV . 0 21 hm1A_associated_SNPs_101 1 other not specified RCV000116216.5
1269 chr1 2235405 2235405 1 + C T rs148632347 2235415 + 2235395 2235435 41 CCGAGCCTCTCGCCACTTGCACCCAGCCTCGGAAGCGGAAG CCGAGCCTCTTGCCACTTGCACCCAGCCTCGGAAGCGGAAG < 41bp 1 0.569854827343005 1 0.656980514526367 experiment 0.860290345313991 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control SKI ENSG00000157933 CDS Human protein_coding chr1:2235415 chr1:2235405 synonymous SNV . 0 11 hm1A_associated_SNPs_173 1 Benign not specified RCV000195511.1
1269 chr1 10689869 10689869 1 + G A rs12070353 10689865 + 10689845 10689885 41 AGGTGCAAGGCGAGGAGGAGAAGAGGGAGGACAAGGAGGAC AGGTGCAAGGCGAGGAGGAGAAGAAGGAGGACAAGGAGGAC < 41bp 1 0.717897587717006 1 0.992849349975586 experiment 0.564204824565988 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PEX14 ENSG00000142655 CDS Human protein_coding chr1:10689865 chr1:10689869 nonsynonymous SNV 0.998 0 25 hm1A_associated_SNPs_174 2 Benign not specified RCV000243092.1
1269 chr1 10689869 10689869 1 + G A rs12070353 10689865 + 10689845 10689885 41 AGGTGCAAGGCGAGGAGGAGAAGAGGGAGGACAAGGAGGAC AGGTGCAAGGCGAGGAGGAGAAGAAGGAGGACAAGGAGGAC < 41bp 1 0.717897587717006 1 0.992849349975586 experiment 0.564204824565988 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PEX14 ENSG00000142655 CDS Human protein_coding chr1:10689865 chr1:10689869 nonsynonymous SNV 0.998 0 25 hm1A_associated_SNPs_174 2 Likely benign Zellweger syndrome RCV000399202.1
1269 chr1 78383874 78383874 1 + G A rs35117963 78383887 + 78383867 78383907 41 AGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT AGAGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT < 41bp 1 0.611122397779198 1 0.948745489120483 experiment 0.777755204441604 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78383887 chr1:78383874 synonymous SNV . 0 8 hm1A_associated_SNPs_217 6 Benign not specified RCV000041177.3
1269 chr1 78383874 78383874 1 + G A rs35117963 78383887 + 78383867 78383907 41 AGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT AGAGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT < 41bp 1 0.611122397779198 1 0.948745489120483 experiment 0.777755204441604 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78383887 chr1:78383874 synonymous SNV . 0 8 hm1A_associated_SNPs_217 6 Benign Dilated cardiomyopathy 1CC RCV000231898.2
1269 chr1 78383874 78383874 1 + G A rs35117963 78383887 + 78383867 78383907 41 AGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT AGAGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT < 41bp 1 0.611122397779198 1 0.948745489120483 experiment 0.777755204441604 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78383887 chr1:78383874 synonymous SNV . 0 8 hm1A_associated_SNPs_217 6 Benign Familial hypertrophic cardiomyopathy 20 RCV000231898.2
1269 chr1 78383874 78383874 1 + G A rs35117963 78383887 + 78383867 78383907 41 AGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT AGAGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT < 41bp 1 0.611122397779198 1 0.948745489120483 experiment 0.777755204441604 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78383887 chr1:78383874 synonymous SNV . 0 8 hm1A_associated_SNPs_217 6 Benign Cardiovascular phenotype RCV000242769.1
1269 chr1 78383874 78383874 1 + G A rs35117963 78383887 + 78383867 78383907 41 AGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT AGAGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT < 41bp 1 0.611122397779198 1 0.948745489120483 experiment 0.777755204441604 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78383887 chr1:78383874 synonymous SNV . 0 8 hm1A_associated_SNPs_217 6 Likely benign Dilated Cardiomyopathy, Dominant RCV000275043.1
1269 chr1 78383874 78383874 1 + G A rs35117963 78383887 + 78383867 78383907 41 AGAGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT AGAGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGAT < 41bp 1 0.611122397779198 1 0.948745489120483 experiment 0.777755204441604 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78383887 chr1:78383874 synonymous SNV . 0 8 hm1A_associated_SNPs_217 6 Likely benign Hypertrophic cardiomyopathy RCV000367185.1
1269 chr1 78383874 78383874 1 + G A rs35117963 78383889 + 78383869 78383909 41 AGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT AGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT < 41bp 1 0.543643265618996 1 0.965310990810394 experiment 0.912713468762008 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Glucose_starv_4h NEXN ENSG00000162614 CDS Human protein_coding chr1:78383889 chr1:78383874 synonymous SNV . 0 6 hm1A_associated_SNPs_218 6 Benign not specified RCV000041177.3
1269 chr1 78383874 78383874 1 + G A rs35117963 78383889 + 78383869 78383909 41 AGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT AGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT < 41bp 1 0.543643265618996 1 0.965310990810394 experiment 0.912713468762008 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Glucose_starv_4h NEXN ENSG00000162614 CDS Human protein_coding chr1:78383889 chr1:78383874 synonymous SNV . 0 6 hm1A_associated_SNPs_218 6 Benign Dilated cardiomyopathy 1CC RCV000231898.2
1269 chr1 78383874 78383874 1 + G A rs35117963 78383889 + 78383869 78383909 41 AGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT AGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT < 41bp 1 0.543643265618996 1 0.965310990810394 experiment 0.912713468762008 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Glucose_starv_4h NEXN ENSG00000162614 CDS Human protein_coding chr1:78383889 chr1:78383874 synonymous SNV . 0 6 hm1A_associated_SNPs_218 6 Benign Familial hypertrophic cardiomyopathy 20 RCV000231898.2
1269 chr1 78383874 78383874 1 + G A rs35117963 78383889 + 78383869 78383909 41 AGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT AGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT < 41bp 1 0.543643265618996 1 0.965310990810394 experiment 0.912713468762008 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Glucose_starv_4h NEXN ENSG00000162614 CDS Human protein_coding chr1:78383889 chr1:78383874 synonymous SNV . 0 6 hm1A_associated_SNPs_218 6 Benign Cardiovascular phenotype RCV000242769.1
1269 chr1 78383874 78383874 1 + G A rs35117963 78383889 + 78383869 78383909 41 AGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT AGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT < 41bp 1 0.543643265618996 1 0.965310990810394 experiment 0.912713468762008 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Glucose_starv_4h NEXN ENSG00000162614 CDS Human protein_coding chr1:78383889 chr1:78383874 synonymous SNV . 0 6 hm1A_associated_SNPs_218 6 Likely benign Dilated Cardiomyopathy, Dominant RCV000275043.1
1269 chr1 78383874 78383874 1 + G A rs35117963 78383889 + 78383869 78383909 41 AGAACGGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT AGAACAGAGGAGGAACGAAAACGCAGAATTGAGCAGGATAT < 41bp 1 0.543643265618996 1 0.965310990810394 experiment 0.912713468762008 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Glucose_starv_4h NEXN ENSG00000162614 CDS Human protein_coding chr1:78383889 chr1:78383874 synonymous SNV . 0 6 hm1A_associated_SNPs_218 6 Likely benign Hypertrophic cardiomyopathy RCV000367185.1
1269 chr1 78395131 78395131 1 + A C rs201763096 78395113 + 78395093 78395133 41 GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGAAG GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGCAG < 41bp 1 0.623002948655881 1 0.511038243770599 experiment 0.753994102688237 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78395113 chr1:78395131 nonsynonymous SNV 0.742 1 39 hm1A_associated_SNPs_219 5 other not specified RCV000041187.6
1269 chr1 78395131 78395131 1 + A C rs201763096 78395113 + 78395093 78395133 41 GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGAAG GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGCAG < 41bp 1 0.623002948655881 1 0.511038243770599 experiment 0.753994102688237 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78395113 chr1:78395131 nonsynonymous SNV 0.742 1 39 hm1A_associated_SNPs_219 5 Benign Dilated cardiomyopathy 1CC RCV000231450.2
1269 chr1 78395131 78395131 1 + A C rs201763096 78395113 + 78395093 78395133 41 GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGAAG GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGCAG < 41bp 1 0.623002948655881 1 0.511038243770599 experiment 0.753994102688237 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78395113 chr1:78395131 nonsynonymous SNV 0.742 1 39 hm1A_associated_SNPs_219 5 Benign Familial hypertrophic cardiomyopathy 20 RCV000231450.2
1269 chr1 78395131 78395131 1 + A C rs201763096 78395113 + 78395093 78395133 41 GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGAAG GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGCAG < 41bp 1 0.623002948655881 1 0.511038243770599 experiment 0.753994102688237 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78395113 chr1:78395131 nonsynonymous SNV 0.742 1 39 hm1A_associated_SNPs_219 5 Uncertain significance Hypertrophic cardiomyopathy RCV000311586.1
1269 chr1 78395131 78395131 1 + A C rs201763096 78395113 + 78395093 78395133 41 GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGAAG GCAAAGAAGAGAAGATGAAAAAAGGAAAGCAGAAGAAGCAG < 41bp 1 0.623002948655881 1 0.511038243770599 experiment 0.753994102688237 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78395113 chr1:78395131 nonsynonymous SNV 0.742 1 39 hm1A_associated_SNPs_219 5 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000368643.1
1269 chr1 78407852 78407852 1 + A G rs201390657 78407835 + 78407815 78407855 41 AGAACAAAGAAGAATTGAAGAACAAAAGTTACTACGCATGC AGAACAAAGAAGAATTGAAGAACAAAAGTTACTACGCGTGC < 41bp 1 0.219721532299464 1 0.467869281768799 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control NEXN ENSG00000162614 CDS Human protein_coding chr1:78407835 chr1:78407852 nonsynonymous SNV 0.987 2 38 hm1A_associated_SNPs_220 1 Likely benign not specified RCV000213635.3
1269 chr1 236646627 236646627 1 + A C rs61740488 236646613 + 236646593 236646633 41 CTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCT CTATGAGGTCCTAGAGCTCCAGGACAATGATAAGCCTCGCT < 41bp 1 0.655381926338315 1 0.226452797651291 experiment 0.68923614732337 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236646613 chr1:236646627 . . 0 35 hm1A_associated_SNPs_269 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000369022.1
1269 chr1 236646631 236646631 1 + G A rs61740486 236646613 + 236646593 236646633 41 CTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCT CTATGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCACT < 41bp 1 0.648293098070317 1 0.173793256282806 experiment 0.703413803859365 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236646613 chr1:236646631 . . 0 39 hm1A_associated_SNPs_270 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000276600.1
1269 chr1 237064437 237064437 1 + A G rs41304165 237064445 + 237064425 237064465 41 GCAATGCCGAGAAAGCAATGAAGAGCGTTTCGAAGCATGCC GCAATGCCGAGAGAGCAATGAAGAGCGTTTCGAAGCATGCC < 41bp 1 0.136890063390525 1 0.547656834125519 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control MTR ENSG00000116984 UTR3 Human protein_coding chr1:237064445 chr1:237064437 . . 0 13 hm1A_associated_SNPs_271 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000301386.1
1269 chr2 48023115 48023115 1 + T C rs1800935 48023134 + 48023114 48023154 41 ATGAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTG ACGAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTG < 41bp 1 0.41487859506067 1 0.126713216304779 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48023134 chr2:48023115 synonymous SNV . 0 2 hm1A_associated_SNPs_281 3 Benign Lynch syndrome RCV000030275.4
1269 chr2 48023115 48023115 1 + T C rs1800935 48023134 + 48023114 48023154 41 ATGAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTG ACGAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTG < 41bp 1 0.41487859506067 1 0.126713216304779 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48023134 chr2:48023115 synonymous SNV . 0 2 hm1A_associated_SNPs_281 3 Benign not specified RCV000035326.9
1269 chr2 48023115 48023115 1 + T C rs1800935 48023134 + 48023114 48023154 41 ATGAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTG ACGAAGCCTTAAATAAAGACAAGATTAAGAGGCTTGAATTG < 41bp 1 0.41487859506067 1 0.126713216304779 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48023134 chr2:48023115 synonymous SNV . 0 2 hm1A_associated_SNPs_281 3 Benign Hereditary cancer-predisposing syndrome RCV000131276.2
1269 chr2 211456639 211456639 1 + C T rs2229589 211456637 + 211456617 211456657 41 ATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAA ATGGCTATGCCTTGGACAACACTCTCCCTGCTGGCTGGAAA < 41bp 1 0.12232114273757 1 0.0934565961360931 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456637 chr2:211456639 synonymous SNV . 0 23 hm1A_associated_SNPs_299 2 other not specified RCV000116830.5
1269 chr2 211456639 211456639 1 + C T rs2229589 211456637 + 211456617 211456657 41 ATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAA ATGGCTATGCCTTGGACAACACTCTCCCTGCTGGCTGGAAA < 41bp 1 0.12232114273757 1 0.0934565961360931 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456637 chr2:211456639 synonymous SNV . 0 23 hm1A_associated_SNPs_299 2 Benign Congenital hyperammonemia, type I RCV000302372.1
1269 chr2 211543655 211543655 1 + C T rs139770263 211543644 + 211543624 211543664 41 TCATTCCCTTAAGACGATGGATTCTGTTGAACTATGGGGTC TCATTCCCTTAAGACGATGGATTCTGTTGAATTATGGGGTC < 41bp 1 0.415386347377512 1 0.115012884140015 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CPS1 ENSG00000021826 UTR3 Human protein_coding chr2:211543644 chr2:211543655 . . 0 32 hm1A_associated_SNPs_301 1 Uncertain significance Congenital hyperammonemia, type I RCV000363373.1
1269 chr2 211543655 211543655 1 + C T rs139770263 211543654 + 211543634 211543674 41 AAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCA AAGACGATGGATTCTGTTGAATTATGGGGTCCCACACTGCA < 41bp 1 0.243459550610027 1 0.227535605430603 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CPS1 ENSG00000021826 UTR3 Human protein_coding chr2:211543654 chr2:211543655 . . 0 22 hm1A_associated_SNPs_302 1 Uncertain significance Congenital hyperammonemia, type I RCV000363373.1
1269 chr5 256472 256472 1 + G A rs6961 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTG < 41bp 1 0.726944529544465 1 0.175090342760086 experiment 0.54611094091107 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256472 synonymous SNV . 0 16 hm1A_associated_SNPs_349 5 other not specified RCV000118316.3
1269 chr5 256472 256472 1 + G A rs6961 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTG < 41bp 1 0.726944529544465 1 0.175090342760086 experiment 0.54611094091107 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256472 synonymous SNV . 0 16 hm1A_associated_SNPs_349 5 Benign Hereditary cancer-predisposing syndrome RCV000162483.1
1269 chr5 256472 256472 1 + G A rs6961 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTG < 41bp 1 0.726944529544465 1 0.175090342760086 experiment 0.54611094091107 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256472 synonymous SNV . 0 16 hm1A_associated_SNPs_349 5 Likely benign Leigh syndrome RCV000273207.1
1269 chr5 256472 256472 1 + G A rs6961 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTG < 41bp 1 0.726944529544465 1 0.175090342760086 experiment 0.54611094091107 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256472 synonymous SNV . 0 16 hm1A_associated_SNPs_349 5 Likely benign Pheochromocytoma RCV000303618.1
1269 chr5 256472 256472 1 + G A rs6961 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTG < 41bp 1 0.726944529544465 1 0.175090342760086 experiment 0.54611094091107 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256472 synonymous SNV . 0 16 hm1A_associated_SNPs_349 5 Likely benign Mitochondrial complex II deficiency RCV000358445.1
1269 chr5 256472 256472 1 + G A rs6961 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTGACT < 41bp 1 0.580335020242282 1 0.283869743347168 experiment 0.839329959515437 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256472 synonymous SNV . 0 13 hm1A_associated_SNPs_350 5 other not specified RCV000118316.3
1269 chr5 256472 256472 1 + G A rs6961 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTGACT < 41bp 1 0.580335020242282 1 0.283869743347168 experiment 0.839329959515437 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256472 synonymous SNV . 0 13 hm1A_associated_SNPs_350 5 Benign Hereditary cancer-predisposing syndrome RCV000162483.1
1269 chr5 256472 256472 1 + G A rs6961 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTGACT < 41bp 1 0.580335020242282 1 0.283869743347168 experiment 0.839329959515437 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256472 synonymous SNV . 0 13 hm1A_associated_SNPs_350 5 Likely benign Leigh syndrome RCV000273207.1
1269 chr5 256472 256472 1 + G A rs6961 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTGACT < 41bp 1 0.580335020242282 1 0.283869743347168 experiment 0.839329959515437 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256472 synonymous SNV . 0 13 hm1A_associated_SNPs_350 5 Likely benign Pheochromocytoma RCV000303618.1
1269 chr5 256472 256472 1 + G A rs6961 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCGTAATCGACAAAACTTTGAACGAGGCTGACT < 41bp 1 0.580335020242282 1 0.283869743347168 experiment 0.839329959515437 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256472 synonymous SNV . 0 13 hm1A_associated_SNPs_350 5 Likely benign Mitochondrial complex II deficiency RCV000358445.1
1269 chr5 149779591 149779591 1 + A G rs146760417 149779605 + 149779585 149779625 41 CAACACAGGACGCTTCATATAGATGTGTACAGTATATGTAT CAACACGGGACGCTTCATATAGATGTGTACAGTATATGTAT < 41bp 1 0.0941735147203744 1 0.0223000347614288 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control TCOF1 ENSG00000070814 UTR3 Human protein_coding chr5:149779605 chr5:149779591 . . 0 7 hm1A_associated_SNPs_373 1 Likely benign Treacher Collins Syndrome, Dominant RCV000338079.1
1269 chr6 7580949 7580949 1 + G A rs577061462 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA GAGATTACAAAAGGTCCAGTATGACCTGCAGAAAGCAAACA < 41bp 1 0.262402565300056 1 0.783988118171692 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580949 nonsynonymous SNV 0.203 2 12 hm1A_associated_SNPs_384 1 Uncertain significance not specified RCV000221227.1
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Benign Cardiomyopathy RCV000029680.1
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Benign not specified RCV000038057.4
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000232682.2
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000232682.2
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Benign Cardiovascular phenotype RCV000245309.1
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Likely benign Skin fragility woolly hair syndrome RCV000270902.1
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Likely benign Cardiomyopathy, ARVC RCV000276388.1
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000325940.1
1269 chr6 7581196 7581196 1 + G A rs28763968 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCGTCAGAAGACTCCTGCAAGAGAAAGAAGCTGGAGGAA < 41bp 1 0.288670265417376 1 0.970647096633911 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581196 synonymous SNV . 0 26 hm1A_associated_SNPs_385 9 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000389487.1
1269 chr6 29913298 29913298 1 + A T rs1061235 29913295 + 29913275 29913315 41 GCCCTTCCCTTTGTGACTTGAAGAACCCTGACTTTGTTTCT GCCCTTCCCTTTGTGACTTGAAGTACCCTGACTTTGTTTCT < 41bp 1 0.377638237770083 1 0.0536052286624908 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control HLA-A ENSG00000206503 UTR3 Human protein_coding chr6:29913295 chr6:29913298 . . 0 24 hm1A_associated_SNPs_417 1 other Carbamazepine hypersensitivity RCV000022618.3
1269 chr7 128485240 128485240 1 + C T rs146953558 128485247 + 128485227 128485267 41 CAAATTCCCCACCCGTGTCCATGTGCAGCCTGCGGTCGATA CAAATTCCCCACCTGTGTCCATGTGCAGCCTGCGGTCGATA < 41bp 1 0.659728227267805 1 0.513181030750275 experiment 0.680543545464391 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control FLNC ENSG00000128591 CDS Human protein_coding chr7:128485247 chr7:128485240 nonsynonymous SNV 0.985 4 14 hm1A_associated_SNPs_488 1 Benign not specified RCV000243106.3
1269 chr8 48873650 48873650 1 + C T rs577633841 48873655 + 48873635 48873675 41 AGCAGGGCAGGGAAGCCGGGAGGCGGGCCCGGCCCGAGCTT AGCAGGGCAGGGAAGTCGGGAGGCGGGCCCGGCCCGAGCTT < 41bp 1 0.745505167643142 1 0.719413816928864 experiment 0.508989664713716 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control MCM4 ENSG00000104738 UTR5 Human protein_coding chr8:48873655 chr8:48873650 . . 0 16 hm1A_associated_SNPs_508 1 Likely benign Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000402170.1
1269 chr9 37422763 37422763 1 + C T rs147185003 37422770 + 37422750 37422790 41 GAGACCGGTGCGACTCATGAAGGTGTTCGTCACCCGCAGGA GAGACCGGTGCGATTCATGAAGGTGTTCGTCACCCGCAGGA < 41bp 1 0.51906246742909 1 0.856991648674011 experiment 0.96187506514182 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control GRHPR ENSG00000137106 CDS Human protein_coding chr9:37422770 chr9:37422763 nonsynonymous SNV 0.614 2 14 hm1A_associated_SNPs_540 1 Uncertain significance Primary hyperoxaluria RCV000282740.1
1269 chr9 80944594 80944594 1 + A C rs115361057 80944577 + 80944557 80944597 41 CAAGGTCTGTTTTTAATACCATATACTTTATATTTCTATAC CAAGGTCTGTTTTTAATACCATATACTTTATATTTCTCTAC < 41bp 1 0.36086838606251 1 0.841562867164612 experiment 1 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control PSAT1 ENSG00000135069 UTR3 Human protein_coding chr9:80944577 chr9:80944594 . . 0 38 hm1A_associated_SNPs_541 1 Likely benign Phosphoserine aminotransferase deficiency RCV000386215.1
1269 chr9 80944672 80944672 1 + T G rs143748888 80944688 + 80944668 80944708 41 CTTGTGCATTATAGCATTCCATTAGCAAGAGTTGTACCCCC CTTGGGCATTATAGCATTCCATTAGCAAGAGTTGTACCCCC < 41bp 1 0.614500906425054 1 0.987502574920654 experiment 0.770998187149893 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control PSAT1 ENSG00000135069 UTR3 Human protein_coding chr9:80944688 chr9:80944672 . . 0 5 hm1A_associated_SNPs_542 1 Uncertain significance Phosphoserine aminotransferase deficiency RCV000347019.1
1269 chr9 131395571 131395571 1 + G A rs149318543 131395576 + 131395556 131395596 41 CGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCT CGAGCTCCCCACCGCATTCGACTACGTGGAGTTCACCCGCT < 41bp 1 0.497982879365852 1 0.569200575351715 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131395576 chr9:131395571 synonymous SNV . 0 16 hm1A_associated_SNPs_555 2 other not specified RCV000179189.2
1269 chr9 131395571 131395571 1 + G A rs149318543 131395576 + 131395556 131395596 41 CGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCT CGAGCTCCCCACCGCATTCGACTACGTGGAGTTCACCCGCT < 41bp 1 0.497982879365852 1 0.569200575351715 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131395576 chr9:131395571 synonymous SNV . 0 16 hm1A_associated_SNPs_555 2 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000302111.1
1269 chr10 79795367 79795367 1 + T C rs57866839 79795352 + 79795332 79795372 41 GCCAAAATGTACAAGACCACACCGGATGTCATCTTTGTATT GCCAAAATGTACAAGACCACACCGGATGTCATCTTCGTATT < 41bp 1 0.729304386019478 1 0.196763545274734 experiment 0.541391227961043 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control RPS24 ENSG00000138326 CDS Human protein_coding chr10:79795352 chr10:79795367 synonymous SNV . 0 36 hm1A_associated_SNPs_595 1 Likely benign Diamond-Blackfan anemia RCV000341734.1
1269 chr10 79795367 79795367 1 + T C rs57866839 79795370 + 79795350 79795390 41 ACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTT ACACCGGATGTCATCTTCGTATTTGGATTCAGAACTCATTT < 41bp 1 0.487873446190791 1 0.110551744699478 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control RPS24 ENSG00000138326 CDS Human protein_coding chr10:79795370 chr10:79795367 synonymous SNV . 0 18 hm1A_associated_SNPs_596 1 Likely benign Diamond-Blackfan anemia RCV000341734.1
1269 chr10 79795376 79795376 1 + A G rs6496 79795370 + 79795350 79795390 41 ACACCGGATGTCATCTTTGTATTTGGATTCAGAACTCATTT ACACCGGATGTCATCTTTGTATTTGGGTTCAGAACTCATTT < 41bp 1 0.507625677190181 1 0.091527909040451 experiment 0.984748645619638 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control RPS24 ENSG00000138326 CDS Human protein_coding chr10:79795370 chr10:79795376 synonymous SNV . 0 27 hm1A_associated_SNPs_597 1 other Diamond-Blackfan anemia RCV000400995.1
1269 chr10 79797035 79797035 1 + A G rs139181869 79797030 + 79797010 79797050 41 GAATGAAGAAAGTCAGGGGGACTGCAAAGGCCAATGTTGGT GAATGAAGAAAGTCAGGGGGACTGCGAAGGCCAATGTTGGT < 41bp 1 0.784681214290808 1 0.323575258255005 experiment 0.430637571418384 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control RPS24 ENSG00000138326 CDS Human protein_coding chr10:79797030 chr10:79797035 synonymous SNV . 0 26 hm1A_associated_SNPs_603 1 Benign Diamond-Blackfan anemia RCV000458897.1
1269 chr11 6411784 6411784 1 + G C rs79282481 6411803 + 6411783 6411823 41 GGGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCG GCGGGGGACGGGACAGACGAACCAGCCCCGTGTAGGAAGCG < 41bp 1 0.778131098184124 1 0.98199188709259 experiment 0.443737803631752 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SMPD1 ENSG00000166311 UTR5 Human protein_coding chr11:6411803 chr11:6411784 . . 0 2 hm1A_associated_SNPs_625 1 Likely benign Sphingomyelin/cholesterol lipidosis RCV000395997.1
1269 chr11 67250697 67250697 1 + G A rs116940576 67250683 + 67250663 67250703 41 GGGATCCAAAAACGTGTGATACAGGAAGGCCGAGGAGAGCT GGGATCCAAAAACGTGTGATACAGGAAGGCCGAGAAGAGCT < 41bp 1 0.789426502205793 1 0.761932611465454 experiment 0.421146995588415 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control AIP ENSG00000110711 CDS Human protein_coding chr11:67250683 chr11:67250697 nonsynonymous SNV 0.987 4 35 hm1A_associated_SNPs_662 1 Likely benign Familial Isolated Pituitary Adenomas RCV000304446.1
1269 chr11 71821236 71821236 1 + A G rs17161980 71821219 - 71821199 71821239 41 AGATGATGAGGATAGTGAAGAGGACTCAGAGGATGATGAGG AGACGATGAGGATAGTGAAGAGGACTCAGAGGATGATGAGG < 41bp 1 0.787468107080441 1 0.225267291069031 experiment 0.425063785839118 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control ANAPC15 ENSG00000110200 CDS Human protein_coding chr11:71821219 chr11:71821236 synonymous SNV . 0 4 hm1A_associated_SNPs_671 1 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000325528.1
1269 chr11 111908079 111908079 1 + C T rs587754043 111908093 + 111908073 111908113 41 CCCACTCTGTATCATTGTAGAAAAAGAGGCAGATATATCAG CCCACTTTGTATCATTGTAGAAAAAGAGGCAGATATATCAG < 41bp 1 0.271728987542607 1 0.147299975156784 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control DLAT ENSG00000150768 CDS Human protein_coding chr11:111908093 chr11:111908079 synonymous SNV . 0 7 hm1A_associated_SNPs_677 1 Likely benign not specified RCV000418313.1
1269 chr12 6979967 6979967 1 + T C rs58194764 6979966 + 6979946 6979986 41 GCTGTGTATGTGAACCACCCATGTGAGGGAATAAACCTGGC GCTGTGTATGTGAACCACCCACGTGAGGGAATAAACCTGGC < 41bp 1 0.520226836287676 1 0.0872841477394104 experiment 0.959546327424649 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control TPI1 ENSG00000111669 UTR3 Human protein_coding chr12:6979966 chr12:6979967 . . 0 22 hm1A_associated_SNPs_697 1 Benign Triosephosphate isomerase deficiency RCV000267394.1
1269 chr12 32896365 32896365 1 + G C rs1059422 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGACACTTTGTTGACTCAAAACTTG < 41bp 1 0.204015785281976 1 0.111830800771713 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896365 . . 0 20 hm1A_associated_SNPs_705 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000300893.1
1269 chr12 32896365 32896365 1 + G C rs1059422 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGACACTTTGTTGACTCAAAACTTG < 41bp 1 0.204015785281976 1 0.111830800771713 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896365 . . 0 20 hm1A_associated_SNPs_705 3 Benign Lethal Encephalopathy RCV000353033.1
1269 chr12 32896365 32896365 1 + G C rs1059422 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGACACTTTGTTGACTCAAAACTTG < 41bp 1 0.204015785281976 1 0.111830800771713 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896365 . . 0 20 hm1A_associated_SNPs_705 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000367296.1
1269 chr14 24566139 24566139 1 + C G rs61752842 24566156 + 24566136 24566176 41 CATCATGCCGTAGCATCCAGACCCTGCGAGTGCTTAGTGGA CATGATGCCGTAGCATCCAGACCCTGCGAGTGCTTAGTGGA < 41bp 1 0.676350629370665 1 0.18506446480751 experiment 0.64729874125867 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PCK2 ENSG00000100889 CDS Human protein_coding chr14:24566156 chr14:24566139 stopgain 0.966 0 4 hm1A_associated_SNPs_759 2 Likely pathogenic not provided RCV000416137.2
1269 chr14 24566139 24566139 1 + C G rs61752842 24566156 + 24566136 24566176 41 CATCATGCCGTAGCATCCAGACCCTGCGAGTGCTTAGTGGA CATGATGCCGTAGCATCCAGACCCTGCGAGTGCTTAGTGGA < 41bp 1 0.676350629370665 1 0.18506446480751 experiment 0.64729874125867 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PCK2 ENSG00000100889 CDS Human protein_coding chr14:24566156 chr14:24566139 stopgain 0.966 0 4 hm1A_associated_SNPs_759 2 Uncertain significance not specified RCV000441776.1
1269 chr14 51094859 51094859 1 + G A rs148548325 51094861 + 51094841 51094881 41 GGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACC GGTGAAGAAGATGGGTGGAGAAGAATTTAGCCGGCGTTACC < 41bp 1 0.412410268725952 1 0.447084963321686 experiment 1 Functional Loss 26863196;GSE70486;m1A-seq;HEK293;Control ATL1 ENSG00000198513 CDS Human protein_coding chr14:51094861 chr14:51094859 synonymous SNV . 0 19 hm1A_associated_SNPs_764 1 Benign Spastic paraplegia 3 RCV000227026.1
1269 chr15 67457698 67457698 1 + A G rs35874463 67457678 + 67457658 67457698 41 CAGCCATTCCATCCCCGAAAACACTAACTTCCCCGCAGGCA CAGCCATTCCATCCCCGAAAACACTAACTTCCCCGCAGGCG < 41bp 1 0.488467623239919 1 0.804919064044952 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67457678 chr15:67457698 nonsynonymous SNV 0.998 1 41 hm1A_associated_SNPs_795 3 Benign not specified RCV000128164.6
1269 chr15 67457698 67457698 1 + A G rs35874463 67457678 + 67457658 67457698 41 CAGCCATTCCATCCCCGAAAACACTAACTTCCCCGCAGGCA CAGCCATTCCATCCCCGAAAACACTAACTTCCCCGCAGGCG < 41bp 1 0.488467623239919 1 0.804919064044952 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67457678 chr15:67457698 nonsynonymous SNV 0.998 1 41 hm1A_associated_SNPs_795 3 other Thoracic aortic aneurysm and aortic dissection RCV000246765.2
1269 chr15 67457698 67457698 1 + A G rs35874463 67457678 + 67457658 67457698 41 CAGCCATTCCATCCCCGAAAACACTAACTTCCCCGCAGGCA CAGCCATTCCATCCCCGAAAACACTAACTTCCCCGCAGGCG < 41bp 1 0.488467623239919 1 0.804919064044952 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67457678 chr15:67457698 nonsynonymous SNV 0.998 1 41 hm1A_associated_SNPs_795 3 Likely benign Loeys-Dietz syndrome RCV000405224.1
1269 chr15 93545488 93545488 1 + T A rs61756301 93545482 + 93545462 93545502 41 AGGAGAACAAGGAGAAACAAATGAGTTCTAGGAAAGACAAA AGGAGAACAAGGAGAAACAAATGAGTACTAGGAAAGACAAA < 41bp 1 0.293424661137999 1 0.723918199539185 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control CHD2 ENSG00000173575 CDS Human protein_coding chr15:93545482 chr15:93545488 nonsynonymous SNV 0.998 0 27 hm1A_associated_SNPs_805 2 Benign Epileptic encephalopathy, childhood-onset RCV000228010.2
1269 chr15 93545488 93545488 1 + T A rs61756301 93545482 + 93545462 93545502 41 AGGAGAACAAGGAGAAACAAATGAGTTCTAGGAAAGACAAA AGGAGAACAAGGAGAAACAAATGAGTACTAGGAAAGACAAA < 41bp 1 0.293424661137999 1 0.723918199539185 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control CHD2 ENSG00000173575 CDS Human protein_coding chr15:93545482 chr15:93545488 nonsynonymous SNV 0.998 0 27 hm1A_associated_SNPs_805 2 Benign not specified RCV000420173.1
1269 chr15 99505898 99505898 1 + C T rs182645795 99505897 + 99505877 99505917 41 ATTGTCACAGGGATCCTGGCACAGAGAAGAGTTACGAGCAG ATTGTCACAGGGATCCTGGCATAGAGAAGAGTTACGAGCAG < 41bp 1 0.217810139118652 1 0.608103036880493 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99505897 chr15:99505898 . . 0 22 hm1A_associated_SNPs_807 1 Uncertain significance Insulin-Like Growth Factor I Resistance RCV000346827.1
1269 chr16 21964713 21964713 1 + G T rs201397873 21964732 + 21964712 21964752 41 GGCAGTGACCGTGTGTCAGAACAATCTTGAATCATGAAGCT GTCAGTGACCGTGTGTCAGAACAATCTTGAATCATGAAGCT < 41bp 1 0.407744118236928 1 0.231555670499802 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control UQCRC2 ENSG00000140740 UTR5 Human protein_coding chr16:21964732 chr16:21964713 . . 0 2 hm1A_associated_SNPs_837 1 Benign not specified RCV000420465.1
1269 chr16 30732644 30732644 1 + C T rs143519723 30732652 + 30732632 30732672 41 AGCCTGTTGAAGCCCCTGACAGTGCCACCAGGCTACACCTT AGCCTGTTGAAGTCCCTGACAGTGCCACCAGGCTACACCTT < 41bp 1 0.709574263840049 1 0.0968545377254486 experiment 0.580851472319901 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SRCAP ENSG00000080603 CDS Human protein_coding chr16:30732652 chr16:30732644 nonsynonymous SNV 1.000 3 13 hm1A_associated_SNPs_845 2 Benign not specified RCV000176214.2
1269 chr16 30732644 30732644 1 + C T rs143519723 30732652 + 30732632 30732672 41 AGCCTGTTGAAGCCCCTGACAGTGCCACCAGGCTACACCTT AGCCTGTTGAAGTCCCTGACAGTGCCACCAGGCTACACCTT < 41bp 1 0.709574263840049 1 0.0968545377254486 experiment 0.580851472319901 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SRCAP ENSG00000080603 CDS Human protein_coding chr16:30732652 chr16:30732644 nonsynonymous SNV 1.000 3 13 hm1A_associated_SNPs_845 2 Likely benign Floating-Harbor syndrome RCV000342980.1
1269 chr16 30735038 30735038 1 + C G rs79597785 30735047 + 30735027 30735067 41 TCCTCTACAGTCTCAGTTCCATTGTCATCTTCACTCCCCAT TCCTCTACAGTGTCAGTTCCATTGTCATCTTCACTCCCCAT < 41bp 1 0.674637371943657 1 0.999496281147003 experiment 0.650725256112686 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control SRCAP ENSG00000080603 CDS Human protein_coding chr16:30735047 chr16:30735038 synonymous SNV . 0 12 hm1A_associated_SNPs_846 2 other not specified RCV000147664.2
1269 chr16 30735038 30735038 1 + C G rs79597785 30735047 + 30735027 30735067 41 TCCTCTACAGTCTCAGTTCCATTGTCATCTTCACTCCCCAT TCCTCTACAGTGTCAGTTCCATTGTCATCTTCACTCCCCAT < 41bp 1 0.674637371943657 1 0.999496281147003 experiment 0.650725256112686 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control SRCAP ENSG00000080603 CDS Human protein_coding chr16:30735047 chr16:30735038 synonymous SNV . 0 12 hm1A_associated_SNPs_846 2 Likely benign Floating-Harbor syndrome RCV000260460.1
1269 chr17 78078643 78078643 1 + C A rs146615896 78078625 + 78078605 78078645 41 CGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCCAA CGTCCCAGAGCAGTGCCCACACAGTGCGACGTCCCCCCAAA < 41bp 1 0.44877236644627 1 0.177371740341187 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078625 chr17:78078643 synonymous SNV . 0 39 hm1A_associated_SNPs_921 1 other not specified RCV000338982.2
1269 chr19 7599709 7599709 1 + G A rs45483295 7599719 + 7599699 7599739 41 TCACTACTACGTGATAGTAAATCCCCGGCAAAAACCAGCAG TCACTACTACATGATAGTAAATCCCCGGCAAAAACCAGCAG < 41bp 1 0.773459342100282 1 0.194688886404037 experiment 0.453081315799436 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control PNPLA6 ENSG00000032444;ENSG00000268614 UTR5;UTR3 Human other chr19:7599719 chr19:7599709 . . 0 11 hm1A_associated_SNPs_958 1 Uncertain significance Spastic Paraplegia, Recessive RCV000392930.1
1269 chr19 7599735 7599735 1 + A C rs604959 7599719 + 7599699 7599739 41 TCACTACTACGTGATAGTAAATCCCCGGCAAAAACCAGCAG TCACTACTACGTGATAGTAAATCCCCGGCAAAAACCCGCAG < 41bp 1 0.781715685040138 1 0.198440849781036 experiment 0.436568629919724 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control PNPLA6 ENSG00000032444;ENSG00000268614 UTR5;UTR3 Human other chr19:7599719 chr19:7599735 . . 0 37 hm1A_associated_SNPs_960 2 Likely benign Spastic Paraplegia, Recessive RCV000309009.1
1269 chr19 7599735 7599735 1 + A C rs604959 7599719 + 7599699 7599739 41 TCACTACTACGTGATAGTAAATCCCCGGCAAAAACCAGCAG TCACTACTACGTGATAGTAAATCCCCGGCAAAAACCCGCAG < 41bp 1 0.781715685040138 1 0.198440849781036 experiment 0.436568629919724 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control PNPLA6 ENSG00000032444;ENSG00000268614 UTR5;UTR3 Human other chr19:7599719 chr19:7599735 . . 0 37 hm1A_associated_SNPs_960 2 Likely benign Ganglioside sialidase deficiency RCV000325819.1
1269 chr20 61455823 61455823 1 + C T rs150148851 61455839 + 61455819 61455859 41 GTCCCCCAGGGCCCCCTGGAATGCCAGGGTTCAAGGTGAGT GTCCTCCAGGGCCCCCTGGAATGCCAGGGTTCAAGGTGAGT < 41bp 1 0.594360128746132 1 0.616629660129547 experiment 0.811279742507736 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Heat_shock COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61455839 chr20:61455823 synonymous SNV . 0 5 hm1A_associated_SNPs_1063 2 Benign not specified RCV000242901.1
1269 chr20 61455823 61455823 1 + C T rs150148851 61455839 + 61455819 61455859 41 GTCCCCCAGGGCCCCCTGGAATGCCAGGGTTCAAGGTGAGT GTCCTCCAGGGCCCCCTGGAATGCCAGGGTTCAAGGTGAGT < 41bp 1 0.594360128746132 1 0.616629660129547 experiment 0.811279742507736 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Heat_shock COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61455839 chr20:61455823 synonymous SNV . 0 5 hm1A_associated_SNPs_1063 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000289315.1
1269 chr20 61463522 61463522 1 + C A rs751557 61463530 + 61463510 61463550 41 CGGGAGGTGCCGCAGGCCCTAAGGGAGACCAGGTGAGCTGG CGGGAGGTGCCGAAGGCCCTAAGGGAGACCAGGTGAGCTGG < 41bp 1 0.444843307039805 1 0.901682019233704 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Heat_shock COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61463530 chr20:61463522 nonsynonymous SNV 0.052 1 13 hm1A_associated_SNPs_1064 2 Benign not specified RCV000176546.2
1269 chr20 61463522 61463522 1 + C A rs751557 61463530 + 61463510 61463550 41 CGGGAGGTGCCGCAGGCCCTAAGGGAGACCAGGTGAGCTGG CGGGAGGTGCCGAAGGCCCTAAGGGAGACCAGGTGAGCTGG < 41bp 1 0.444843307039805 1 0.901682019233704 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Heat_shock COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61463530 chr20:61463522 nonsynonymous SNV 0.052 1 13 hm1A_associated_SNPs_1064 2 Benign Multiple Epiphyseal Dysplasia, Dominant RCV000304474.1
1269 chr20 61472093 61472093 1 + G A rs116108376 61472100 + 61472080 61472120 41 CATAAAATTCAACGTGAGGAAGCAAGTGACAAGGACGCCCG CATAAAATTCAACATGAGGAAGCAAGTGACAAGGACGCCCG < 41bp 1 0.414793100679512 1 0.170198619365692 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control COL9A3 ENSG00000092758 UTR3 Human protein_coding chr20:61472100 chr20:61472093 . . 0 14 hm1A_associated_SNPs_1065 2 Benign not specified RCV000243188.1
1269 chr20 61472093 61472093 1 + G A rs116108376 61472100 + 61472080 61472120 41 CATAAAATTCAACGTGAGGAAGCAAGTGACAAGGACGCCCG CATAAAATTCAACATGAGGAAGCAAGTGACAAGGACGCCCG < 41bp 1 0.414793100679512 1 0.170198619365692 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control COL9A3 ENSG00000092758 UTR3 Human protein_coding chr20:61472100 chr20:61472093 . . 0 14 hm1A_associated_SNPs_1065 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000377335.1
1269 chr20 61472093 61472093 1 + G A rs116108376 61472103 + 61472083 61472123 41 AAAATTCAACGTGAGGAAGCAAGTGACAAGGACGCCCGAAG AAAATTCAACATGAGGAAGCAAGTGACAAGGACGCCCGAAG < 41bp 1 0.583235691942895 1 0.677363336086273 experiment 0.83352861611421 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control COL9A3 ENSG00000092758 UTR3 Human protein_coding chr20:61472103 chr20:61472093 . . 0 11 hm1A_associated_SNPs_1066 2 Benign not specified RCV000243188.1
1269 chr20 61472093 61472093 1 + G A rs116108376 61472103 + 61472083 61472123 41 AAAATTCAACGTGAGGAAGCAAGTGACAAGGACGCCCGAAG AAAATTCAACATGAGGAAGCAAGTGACAAGGACGCCCGAAG < 41bp 1 0.583235691942895 1 0.677363336086273 experiment 0.83352861611421 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control COL9A3 ENSG00000092758 UTR3 Human protein_coding chr20:61472103 chr20:61472093 . . 0 11 hm1A_associated_SNPs_1066 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000377335.1
1269 chr20 62560785 62560785 1 + C T rs201495666 62560793 + 62560773 62560813 41 AAGGAACATCTACGACAAGTACGGCTCGCTGGGTCTCTACG AAGGAACATCTATGACAAGTACGGCTCGCTGGGTCTCTACG < 41bp 1 0.486375568191721 1 0.231892734766006 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DNAJC5 ENSG00000101152 CDS Human protein_coding chr20:62560793 chr20:62560785 synonymous SNV . 0 13 hm1A_associated_SNPs_1076 2 Benign Neuronal ceroid lipofuscinosis RCV000232360.1
1269 chr20 62560785 62560785 1 + C T rs201495666 62560793 + 62560773 62560813 41 AAGGAACATCTACGACAAGTACGGCTCGCTGGGTCTCTACG AAGGAACATCTATGACAAGTACGGCTCGCTGGGTCTCTACG < 41bp 1 0.486375568191721 1 0.231892734766006 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DNAJC5 ENSG00000101152 CDS Human protein_coding chr20:62560793 chr20:62560785 synonymous SNV . 0 13 hm1A_associated_SNPs_1076 2 Benign not specified RCV000436594.1
1269 chr21 47811217 47811217 1 + C T rs114383833 47811208 + 47811188 47811228 41 GCTGCAGCAGGCGGCCCAGGAGCAGGCGGCGCTGAGGGAGG GCTGCAGCAGGCGGCCCAGGAGCAGGCGGTGCTGAGGGAGG < 41bp 1 0.711292887742093 1 0.859745025634766 experiment 0.577414224515814 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47811208 chr21:47811217 nonsynonymous SNV 0.000 0 30 hm1A_associated_SNPs_1087 1 Likely benign not specified RCV000424009.1
1269 chrX 19373842 19373842 1 + A G rs35752213 19373839 + 19373819 19373859 41 ATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCTA ATCCTGTGCGTCCGAGAGGCAACGAGGTTTGCTGCTGCCTA < 41bp 1 0.430984868798647 1 0.138512790203094 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control PDHA1 ENSG00000131828 CDS Human protein_coding chrX:19373839 chrX:19373842 synonymous SNV . 0 24 hm1A_associated_SNPs_1118 1 Likely benign not specified RCV000425015.1
1269 chrX 47062534 47062534 1 + G A rs2070169 47062537 + 47062517 47062557 41 CCTTTGCATTCCTTAGCGCCAGAACCGTTATGACGGGCAAG CCTTTGCATTCCTTAGCACCAGAACCGTTATGACGGGCAAG < 41bp 1 0.640202501761621 1 0.704436779022217 experiment 0.719594996476758 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control UBA1 ENSG00000130985 CDS Human protein_coding chrX:47062537 chrX:47062534 nonsynonymous SNV 0.431 1 18 hm1A_associated_SNPs_1122 2 Benign Arthrogryposis multiplex congenita, distal, X-linked RCV000293475.1
1269 chrX 47062534 47062534 1 + G A rs2070169 47062537 + 47062517 47062557 41 CCTTTGCATTCCTTAGCGCCAGAACCGTTATGACGGGCAAG CCTTTGCATTCCTTAGCACCAGAACCGTTATGACGGGCAAG < 41bp 1 0.640202501761621 1 0.704436779022217 experiment 0.719594996476758 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control UBA1 ENSG00000130985 CDS Human protein_coding chrX:47062537 chrX:47062534 nonsynonymous SNV 0.431 1 18 hm1A_associated_SNPs_1122 2 Benign not specified RCV000428872.1
1269 chrX 77158147 77158147 1 + C A rs61752458 77158148 + 77158128 77158168 41 TTTTCCTGTAAGTTCGAAGCATTCAGCAAACAATGGCAAGG TTTTCCTGTAAGTTCGAAGAATTCAGCAAACAATGGCAAGG < 41bp 1 0.692036309682131 1 0.667708098888397 experiment 0.615927380635737 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control COX7B ENSG00000131174 CDS Human protein_coding chrX:77158148 chrX:77158147 nonsynonymous SNV 0.999 1 20 hm1A_associated_SNPs_1126 1 Benign not specified RCV000430417.1
1269 chrX 154005148 154005148 1 + G A rs1800533 154005156 + 154005136 154005176 41 TGAGTAGTGAAGGCCACTTGAAGCTGGAGGAGAAACTAAAG TGAGTAGTGAAGACCACTTGAAGCTGGAGGAGAAACTAAAG < 41bp 1 0.215052489473757 1 0.409790545701981 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control DKC1 ENSG00000130826 UTR3 Human protein_coding chrX:154005156 chrX:154005148 . . 0 13 hm1A_associated_SNPs_1138 1 Benign not specified RCV000153152.4
1269 chr17 7578212 7578212 1 + G A ACC 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTTGACATAGTGTGGTGGTGCCCTA < 41bp 1 0.221642108930308 1 0.0340961813926697 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578212 stopgain 0.999 1 19 hm1A_associated_SNPs_1151 4 Pathogenic Li-Fraumeni syndrome RCV000036532.5
1269 chr17 7578212 7578212 1 + G A ACC 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTTGACATAGTGTGGTGGTGCCCTA < 41bp 1 0.221642108930308 1 0.0340961813926697 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578212 stopgain 0.999 1 19 hm1A_associated_SNPs_1151 4 Pathogenic Hereditary cancer-predisposing syndrome RCV000115730.7
1269 chr17 7578212 7578212 1 + G A ACC 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTTGACATAGTGTGGTGGTGCCCTA < 41bp 1 0.221642108930308 1 0.0340961813926697 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578212 stopgain 0.999 1 19 hm1A_associated_SNPs_1151 4 Pathogenic Li-Fraumeni syndrome 1 RCV000144672.3
1269 chr17 7578212 7578212 1 + G A ACC 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTTGACATAGTGTGGTGGTGCCCTA < 41bp 1 0.221642108930308 1 0.0340961813926697 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578212 stopgain 0.999 1 19 hm1A_associated_SNPs_1151 4 Pathogenic not provided RCV000213050.2
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 not provided not specified RCV000122176.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Pathogenic Li-Fraumeni syndrome RCV000123099.3
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Pathogenic Hereditary cancer-predisposing syndrome RCV000130072.4
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Pathogenic Li-Fraumeni syndrome 1 RCV000144664.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000419636.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Squamous cell carcinoma of the skin RCV000420459.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Glioblastoma RCV000420595.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Pathogenic not provided RCV000420734.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Hepatocellular carcinoma RCV000420908.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Uterine Carcinosarcoma RCV000422008.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Oesophageal carcinoma RCV000424188.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Renal cell carcinoma RCV000425846.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000427005.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Malignant melanoma of skin RCV000428223.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Adenocarcinoma of stomach RCV000430601.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Colorectal Neoplasms RCV000430755.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Adenocarcinoma of prostate RCV000430946.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Adenocarcinoma of lung RCV000432016.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Nasopharyngeal Neoplasms RCV000432438.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Neoplasm of the breast RCV000436981.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Transitional cell carcinoma of the bladder RCV000437236.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Neoplasm of brain RCV000438230.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Pancreatic adenocarcinoma RCV000438582.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Adrenocortical carcinoma RCV000441015.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Malignant neoplasm of body of uterus RCV000443346.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Squamous cell carcinoma of lung RCV000444077.1
1269 chr17 7578211 7578211 1 + C T BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCAACATAGTGTGGTGGTGCCCTA < 41bp 1 0.368835111179334 1 0.0386269986629486 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578211 nonsynonymous SNV 0.999 4 20 hm1A_associated_SNPs_1268 27 Likely pathogenic Adenoid cystic carcinoma RCV000444201.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Renal cell carcinoma RCV000417658.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Squamous cell carcinoma of lung RCV000418330.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Oesophageal carcinoma RCV000422504.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Adenocarcinoma of stomach RCV000427653.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Hepatocellular carcinoma RCV000428396.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Pancreatic adenocarcinoma RCV000429028.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000429736.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Transitional cell carcinoma of the bladder RCV000434864.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Colorectal Neoplasms RCV000435583.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Glioblastoma RCV000439733.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Chronic lymphocytic leukemia RCV000445232.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Uncertain significance Li-Fraumeni syndrome RCV000477234.1
1269 chr17 7578208 7578208 1 + T C BLCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACGTAGTGTGGTGGTGCCCTA < 41bp 1 0.42268117589132 1 0.111954391002655 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578208 nonsynonymous SNV 0.998 5 23 hm1A_associated_SNPs_1308 13 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000492372.1
1269 chr21 47754634 47754634 1 + C G BLCA 47754641 + 47754621 47754661 41 AACAGCGTGGGATCTTCACAATCAGTGACCACCCAGCAGAA AACAGCGTGGGATGTTCACAATCAGTGACCACCCAGCAGAA < 41bp 1 0.350013653825359 1 0.100066632032394 experiment 1 Functional Loss 29072297;GSE97420;m1A-seq;HEK293T;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47754641 chr21:47754634 nonsynonymous SNV 0.000 0 14 hm1A_associated_SNPs_1377 1 Uncertain significance not specified RCV000500312.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic not provided RCV000161067.2
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Uncertain significance Li-Fraumeni syndrome RCV000168150.2
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Neoplasm of the breast RCV000421726.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000421819.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Neoplasm of brain RCV000424101.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Squamous cell carcinoma of the skin RCV000426366.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Squamous cell carcinoma of lung RCV000428263.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Pancreatic adenocarcinoma RCV000431843.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Adenocarcinoma of lung RCV000432944.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Uterine Carcinosarcoma RCV000436614.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Oesophageal carcinoma RCV000438503.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Glioblastoma RCV000443170.1
1269 chr17 7578203 7578203 1 + C T BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTATGGTGGTGCCCTA < 41bp 1 0.417128278476534 1 0.101226180791855 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578203 nonsynonymous SNV 0.994 5 28 hm1A_associated_SNPs_1446 13 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000444190.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Adenocarcinoma of stomach RCV000421044.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Neoplasm of the breast RCV000422178.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000425174.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Pancreatic adenocarcinoma RCV000431745.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Small cell lung cancer RCV000432876.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Hepatocellular carcinoma RCV000437603.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Oesophageal carcinoma RCV000439391.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Acute myeloid leukemia RCV000442610.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Likely pathogenic Adenocarcinoma of lung RCV000442691.1
1269 chr17 7578204 7578204 1 + A C BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGGGTGGTGGTGCCCTA < 41bp 1 0.477137552030654 1 0.132446378469467 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578204 nonsynonymous SNV 0.987 5 27 hm1A_associated_SNPs_1447 10 Uncertain significance Li-Fraumeni syndrome RCV000465501.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Small cell lung cancer RCV000420217.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Hepatocellular carcinoma RCV000420881.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Adenocarcinoma of lung RCV000423272.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Acute myeloid leukemia RCV000429840.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Pancreatic adenocarcinoma RCV000430889.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Adenocarcinoma of stomach RCV000433950.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Neoplasm of the breast RCV000435696.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000440493.1
1269 chr17 7578205 7578205 1 + C A BRCA 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATATTGTGGTGGTGCCCTA < 41bp 1 0.409265568338197 1 0.122623860836029 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578205 nonsynonymous SNV 0.993 5 26 hm1A_associated_SNPs_1448 9 Likely pathogenic Oesophageal carcinoma RCV000441630.1
1269 chr6 7581175 7581175 1 + G A COAD 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCATCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA < 41bp 1 0.28128448164673 1 0.964537441730499 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581175 synonymous SNV . 0 5 hm1A_associated_SNPs_1591 5 Likely benign Cardiovascular phenotype RCV000244426.1
1269 chr6 7581175 7581175 1 + G A COAD 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCATCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA < 41bp 1 0.28128448164673 1 0.964537441730499 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581175 synonymous SNV . 0 5 hm1A_associated_SNPs_1591 5 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000265072.1
1269 chr6 7581175 7581175 1 + G A COAD 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCATCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA < 41bp 1 0.28128448164673 1 0.964537441730499 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581175 synonymous SNV . 0 5 hm1A_associated_SNPs_1591 5 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000310635.1
1269 chr6 7581175 7581175 1 + G A COAD 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCATCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA < 41bp 1 0.28128448164673 1 0.964537441730499 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581175 synonymous SNV . 0 5 hm1A_associated_SNPs_1591 5 Likely benign Skin fragility woolly hair syndrome RCV000359779.1
1269 chr6 7581175 7581175 1 + G A COAD 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCGCATCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA < 41bp 1 0.28128448164673 1 0.964537441730499 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581175 synonymous SNV . 0 5 hm1A_associated_SNPs_1591 5 Likely benign Cardiomyopathy, ARVC RCV000365341.1
1269 chr6 7581173 7581173 1 + G A COAD 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCACGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA < 41bp 1 0.302994175567482 1 0.953697204589844 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581173 nonsynonymous SNV 0.008 1 3 hm1A_associated_SNPs_1707 2 Likely benign not specified RCV000038056.4
1269 chr6 7581173 7581173 1 + G A COAD 7581191 + 7581171 7581211 41 CCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA CCACGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAA < 41bp 1 0.302994175567482 1 0.953697204589844 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7581191 chr6:7581173 nonsynonymous SNV 0.008 1 3 hm1A_associated_SNPs_1707 2 Likely benign not provided RCV000172540.3
1269 chr5 224547 224547 1 + C T COAD 224555 + 224535 224575 41 GGGGCAGGCTTGCGAGCTGCATTTGGCCTTTCTGAGGCAGG GGGGCAGGCTTGTGAGCTGCATTTGGCCTTTCTGAGGCAGG < 41bp 1 0.769236613202265 1 0.649510502815247 experiment 0.461526773595471 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:224555 chr5:224547 stopgain 1.000 0 13 hm1A_associated_SNPs_1812 4 Pathogenic Paragangliomas 5 RCV000191050.3
1269 chr5 224547 224547 1 + C T COAD 224555 + 224535 224575 41 GGGGCAGGCTTGCGAGCTGCATTTGGCCTTTCTGAGGCAGG GGGGCAGGCTTGTGAGCTGCATTTGGCCTTTCTGAGGCAGG < 41bp 1 0.769236613202265 1 0.649510502815247 experiment 0.461526773595471 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:224555 chr5:224547 stopgain 1.000 0 13 hm1A_associated_SNPs_1812 4 Pathogenic Mitochondrial complex II deficiency RCV000230857.1
1269 chr5 224547 224547 1 + C T COAD 224555 + 224535 224575 41 GGGGCAGGCTTGCGAGCTGCATTTGGCCTTTCTGAGGCAGG GGGGCAGGCTTGTGAGCTGCATTTGGCCTTTCTGAGGCAGG < 41bp 1 0.769236613202265 1 0.649510502815247 experiment 0.461526773595471 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:224555 chr5:224547 stopgain 1.000 0 13 hm1A_associated_SNPs_1812 4 Pathogenic Paragangliomas 5 RCV000230857.1
1269 chr5 224547 224547 1 + C T COAD 224555 + 224535 224575 41 GGGGCAGGCTTGCGAGCTGCATTTGGCCTTTCTGAGGCAGG GGGGCAGGCTTGTGAGCTGCATTTGGCCTTTCTGAGGCAGG < 41bp 1 0.769236613202265 1 0.649510502815247 experiment 0.461526773595471 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:224555 chr5:224547 stopgain 1.000 0 13 hm1A_associated_SNPs_1812 4 Pathogenic not provided RCV000481058.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Glioblastoma RCV000422282.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000423344.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Uterine Carcinosarcoma RCV000424582.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Squamous cell carcinoma of lung RCV000427043.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000433417.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Oesophageal carcinoma RCV000433620.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Squamous cell carcinoma of the skin RCV000434681.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Neoplasm of the breast RCV000439990.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Neoplasm of brain RCV000440155.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Pancreatic adenocarcinoma RCV000442891.1
1269 chr17 7578202 7578202 1 + A C COAD 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATAGTGGGGTGGTGCCCTA < 41bp 1 0.430673282386839 1 0.0953785181045532 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578202 nonsynonymous SNV 0.997 5 29 hm1A_associated_SNPs_1844 11 Likely pathogenic Adenocarcinoma of lung RCV000442920.1
1269 chr16 78142372 78142372 1 + C T COAD 78142370 + 78142350 78142390 41 TCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGT TCCAAAAACTGGAAAAAGAAAATGAGTGGCAGGAGGTTTGT < 41bp 1 0.102537186995046 1 0.0820977389812469 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Heat_shock WWOX ENSG00000186153 CDS Human protein_coding chr16:78142370 chr16:78142372 stopgain 0.888 1 23 hm1A_associated_SNPs_1853 1 Pathogenic Epileptic encephalopathy, early infantile, 28 RCV000106406.4
1269 chr9 98231267 98231267 1 + C T COAD 98231269 - 98231249 98231289 41 GCACGGAGTACGACCCCCACACGCACGTGTACTACACCACC GCACGGAGTACGACCCCCACACACACGTGTACTACACCACC < 41bp 1 0.346417877589253 1 0.0980069041252136 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231269 chr9:98231267 synonymous SNV . 0 23 hm1A_associated_SNPs_1854 1 Likely benign Gorlin syndrome RCV000227828.2
1269 chr8 128750625 128750625 1 + G C DLBC 128750620 + 128750600 128750640 41 TCTACCAGCAGCAGCAGCAGAGCGAGCTGCAGCCCCCGGCG TCTACCAGCAGCAGCAGCAGAGCGACCTGCAGCCCCCGGCG < 41bp 1 0.720486372937634 1 0.77336597442627 experiment 0.559027254124731 Functional Loss 26863196;GSE70486;m1A-seq;HEK293;Control MYC ENSG00000136997 CDS Human protein_coding chr8:128750620 chr8:128750625 nonsynonymous SNV 1.000 0 26 hm1A_associated_SNPs_1934 1 Pathogenic Burkitt lymphoma RCV000013404.18
1269 chrX 154002914 154002914 1 + T C ESCA 154002928 + 154002908 154002948 41 GCCTTCTGGACAAGCATGGGAAGCCCACAGACAGCACACCT GCCTTCCGGACAAGCATGGGAAGCCCACAGACAGCACACCT < 41bp 1 0.509959518627637 1 0.467102527618408 experiment 0.980080962744727 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control DKC1 ENSG00000130826 CDS Human protein_coding chrX:154002928 chrX:154002914 nonsynonymous SNV 1.000 5 7 hm1A_associated_SNPs_1948 1 Pathogenic Dyskeratosis congenita X-linked RCV000032189.1
1269 chr16 78142384 78142384 1 + G A ESCA 78142370 + 78142350 78142390 41 TCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAGGTTTGT TCCAAAAACTGGAAAAAGAAAACGAGTGGCAGGAAGTTTGT < 41bp 1 0.0961284566180578 1 0.118706673383713 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Heat_shock WWOX ENSG00000186153 CDS Human protein_coding chr16:78142370 chr16:78142384 nonsynonymous SNV 0.994 3 35 hm1A_associated_SNPs_1965 1 Likely pathogenic not provided RCV000493734.1
1269 chr5 256470 256470 1 + G A HNSC 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCATGATCGACAAAACTTTGAACGAGGCTG < 41bp 1 0.720410483098268 1 0.210302650928497 experiment 0.559179033803464 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256470 nonsynonymous SNV 0.955 4 14 hm1A_associated_SNPs_2091 2 Uncertain significance Mitochondrial complex II deficiency RCV000475448.1
1269 chr5 256470 256470 1 + G A HNSC 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCATGATCGACAAAACTTTGAACGAGGCTG < 41bp 1 0.720410483098268 1 0.210302650928497 experiment 0.559179033803464 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256470 nonsynonymous SNV 0.955 4 14 hm1A_associated_SNPs_2091 2 Uncertain significance Paragangliomas 5 RCV000475448.1
1269 chr5 256470 256470 1 + G A HNSC 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCATGATCGACAAAACTTTGAACGAGGCTGACT < 41bp 1 0.617142589396969 1 0.213115870952606 experiment 0.765714821206063 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256470 nonsynonymous SNV 0.955 4 11 hm1A_associated_SNPs_2092 2 Uncertain significance Mitochondrial complex II deficiency RCV000475448.1
1269 chr5 256470 256470 1 + G A HNSC 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCATGATCGACAAAACTTTGAACGAGGCTGACT < 41bp 1 0.617142589396969 1 0.213115870952606 experiment 0.765714821206063 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256470 nonsynonymous SNV 0.955 4 11 hm1A_associated_SNPs_2092 2 Uncertain significance Paragangliomas 5 RCV000475448.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic not provided RCV000255449.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Small cell lung cancer RCV000418361.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Adenocarcinoma of lung RCV000419408.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Adenocarcinoma of stomach RCV000427564.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000429054.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Hepatocellular carcinoma RCV000430142.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Neoplasm of the breast RCV000436667.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Oesophageal carcinoma RCV000437324.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Pancreatic adenocarcinoma RCV000439730.1
1269 chr17 7578206 7578206 1 + T C LGG 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACACTTTTCGACATGGTGTGGTGGTGCCCTA < 41bp 1 0.420793947861919 1 0.0766291916370392 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578206 nonsynonymous SNV 0.995 5 25 hm1A_associated_SNPs_2268 10 Likely pathogenic Acute myeloid leukemia RCV000445278.1
1269 chr21 47409676 47409676 1 + G A LIHC 47409678 + 47409658 47409698 41 GTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGT GTGTGTAGGGAGAAAAAGAGAGCCGTGGGGAGAAGGTGAGT < 41bp 1 0.377318338566969 1 0.255789220333099 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47409678 chr21:47409676 nonsynonymous SNV 0.999 5 19 hm1A_associated_SNPs_2380 2 Likely pathogenic Bethlem myopathy 1 RCV000272645.1
1269 chr21 47409676 47409676 1 + G A LIHC 47409678 + 47409658 47409698 41 GTGTGTAGGGAGAAAAAGGGAGCCGTGGGGAGAAGGTGAGT GTGTGTAGGGAGAAAAAGAGAGCCGTGGGGAGAAGGTGAGT < 41bp 1 0.377318338566969 1 0.255789220333099 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47409678 chr21:47409676 nonsynonymous SNV 0.999 5 19 hm1A_associated_SNPs_2380 2 Likely pathogenic Ullrich congenital muscular dystrophy 1 RCV000327751.1
1269 chr20 57480498 57480498 1 + C T LUSC 57480505 + 57480485 57480525 41 TGCCTGCTACGAACGCTCCAACGAGTACCAGCTGATTGACT TGCCTGCTACGAATGCTCCAACGAGTACCAGCTGATTGACT < 41bp 1 0.444400372401589 1 0.157314330339432 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57480505 chr20:57480498 nonsynonymous SNV 0.986 5 14 hm1A_associated_SNPs_2609 1 Pathogenic Pseudohypoparathyroidism type 1A RCV000017286.26
1269 chr14 29237400 29237400 1 + C T LUSC 29237387 + 29237367 29237407 41 CACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACT CACCGGCCTCACCTTCATGGACCGCGCCGGCTCTCTCTACT < 41bp 1 0.587802971568636 1 0.301742434501648 experiment 0.824394056862729 Functional Loss 26863196;GSE70486;m1A-seq;HEK293;Control FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237387 chr14:29237400 synonymous SNV . 0 34 hm1A_associated_SNPs_2663 1 Likely benign not specified RCV000430916.1
1269 chr9 137653805 137653805 1 + C T PAAD 137653797 + 137653777 137653817 41 CCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGG CCTGGTCCTTCCGGCCCACCAGGACCTCTGGGAGACGATGG < 41bp 1 0.415179450925525 1 0.641010522842407 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control|26863196;GSE70487;m1A-seq;HeLa;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137653797 chr9:137653805 nonsynonymous SNV 0.010 4 29 hm1A_associated_SNPs_2880 1 Uncertain significance not specified RCV000200186.2
1269 chr16 2133780 2133780 1 + C T PRAD 2133768 + 2133748 2133788 41 GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCA GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGTGCTAGGCA < 41bp 1 0.455834118313389 1 0.503499507904053 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control TSC2 ENSG00000103197 CDS Human protein_coding chr16:2133768 chr16:2133780 nonsynonymous SNV 0.000 2 33 hm1A_associated_SNPs_2927 4 not provided Tuberous sclerosis syndrome RCV000055293.1
1269 chr16 2133780 2133780 1 + C T PRAD 2133768 + 2133748 2133788 41 GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCA GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGTGCTAGGCA < 41bp 1 0.455834118313389 1 0.503499507904053 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control TSC2 ENSG00000103197 CDS Human protein_coding chr16:2133768 chr16:2133780 nonsynonymous SNV 0.000 2 33 hm1A_associated_SNPs_2927 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000163902.1
1269 chr16 2133780 2133780 1 + C T PRAD 2133768 + 2133748 2133788 41 GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCA GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGTGCTAGGCA < 41bp 1 0.455834118313389 1 0.503499507904053 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control TSC2 ENSG00000103197 CDS Human protein_coding chr16:2133768 chr16:2133780 nonsynonymous SNV 0.000 2 33 hm1A_associated_SNPs_2927 4 Likely benign not specified RCV000189923.3
1269 chr16 2133780 2133780 1 + C T PRAD 2133768 + 2133748 2133788 41 GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGCGCTAGGCA GGAGCCCCCAGGGTTGGAGGACGTTGAGGCAGTGCTAGGCA < 41bp 1 0.455834118313389 1 0.503499507904053 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control TSC2 ENSG00000103197 CDS Human protein_coding chr16:2133768 chr16:2133780 nonsynonymous SNV 0.000 2 33 hm1A_associated_SNPs_2927 4 Likely benign Tuberous sclerosis 2 RCV000476957.1
1269 chr7 75933416 75933416 1 + C T SKCM 75933410 + 75933390 75933430 41 CCACGCAGTCCAACGAGATCACCATCCCAGTCACCTTCGAG CCACGCAGTCCAACGAGATCACCATCTCAGTCACCTTCGAG < 41bp 1 0.661974256042563 1 0.86493182182312 experiment 0.676051487914874 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933410 chr7:75933416 nonsynonymous SNV 0.122 5 27 hm1A_associated_SNPs_3073 1 Pathogenic Distal hereditary motor neuronopathy type 2B RCV000007911.2
1269 chr9 137703382 137703382 1 + C T SKCM 137703391 + 137703371 137703411 41 CAGGGCCTTTTCGGGCAGAAAGGTGATGAAGGTCCCAGAGG CAGGGCCTTTTTGGGCAGAAAGGTGATGAAGGTCCCAGAGG < 41bp 1 0.422145836661693 1 0.636263132095337 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137703391 chr9:137703382 synonymous SNV . 0 12 hm1A_associated_SNPs_3098 1 Uncertain significance Ehlers-Danlos syndrome, type 7A RCV000308719.1
1269 chr15 25207265 25207265 1 + C T SKCM 25207270 + 25207250 25207290 41 TTCTGTTTCAGGGATCGCTTACACCTGAGACGAACTACAGA TTCTGTTTCAGGGATTGCTTACACCTGAGACGAACTACAGA < 41bp 1 0.318265425999511 1 0.177293121814728 experiment 1 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control SNURF ENSG00000214265;ENSG00000273173 CDS Human other chr15:25207270 chr15:25207265 nonsynonymous SNV 0.998 0 16 hm1A_associated_SNPs_3114 1 Uncertain significance Autism spectrum disorders RCV000295889.1
1269 chr9 131395598 131395598 1 + G A SKCM 131395613 + 131395593 131395633 41 CGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCA CGCTCACTTTTCGTGAACTGAGCCACTCCCTGGGTCACCCA < 41bp 1 0.301955866606842 1 0.883742392063141 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131395613 chr9:131395598 synonymous SNV . 0 6 hm1A_associated_SNPs_3122 1 Benign not specified RCV000440901.1
1269 chr6 7580938 7580938 1 + G A SKCM 7580958 + 7580938 7580978 41 GAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA AAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACA < 41bp 1 0.26862576378394 1 0.50445556640625 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580958 chr6:7580938 synonymous SNV . 0 1 hm1A_associated_SNPs_3251 1 Likely benign not specified RCV000038047.3
1269 chr9 98231285 98231285 1 + C T STAD 98231269 - 98231249 98231289 41 GCACGGAGTACGACCCCCACACGCACGTGTACTACACCACC GCACAGAGTACGACCCCCACACGCACGTGTACTACACCACC < 41bp 1 0.324183425045011 1 0.183204382658005 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231269 chr9:98231285 synonymous SNV . 0 5 hm1A_associated_SNPs_3400 1 Uncertain significance Gorlin syndrome RCV000457997.1
1269 chr9 137653812 137653812 1 + C T STAD 137653797 + 137653777 137653817 41 CCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGACGATGG CCTGGTCCTTCCGGCCCACCAGGACCTCCGGGAGATGATGG < 41bp 1 0.44067976531766 1 0.636622548103333 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control|26863196;GSE70487;m1A-seq;HeLa;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137653797 chr9:137653812 synonymous SNV . 0 36 hm1A_associated_SNPs_3538 1 Benign not specified RCV000198876.2
1269 chr5 256491 256491 1 + G A STAD 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCGTGATCGACAAAACTTTGAACAAGGCTG < 41bp 1 0.737075543130767 1 0.262125432491302 experiment 0.525848913738465 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256491 nonsynonymous SNV 0.994 0 35 hm1A_associated_SNPs_3539 2 Uncertain significance Mitochondrial complex II deficiency RCV000204436.2
1269 chr5 256491 256491 1 + G A STAD 256477 + 256457 256497 41 GGAATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTG GGAATATAGACCCGTGATCGACAAAACTTTGAACAAGGCTG < 41bp 1 0.737075543130767 1 0.262125432491302 experiment 0.525848913738465 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256477 chr5:256491 nonsynonymous SNV 0.994 0 35 hm1A_associated_SNPs_3539 2 Uncertain significance Paragangliomas 5 RCV000204436.2
1269 chr5 256491 256491 1 + G A STAD 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCGTGATCGACAAAACTTTGAACAAGGCTGACT < 41bp 1 0.6241874818107 1 0.183075219392776 experiment 0.751625036378601 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256491 nonsynonymous SNV 0.994 0 32 hm1A_associated_SNPs_3540 2 Uncertain significance Mitochondrial complex II deficiency RCV000204436.2
1269 chr5 256491 256491 1 + G A STAD 256480 + 256460 256500 41 ATATAGACCCGTGATCGACAAAACTTTGAACGAGGCTGACT ATATAGACCCGTGATCGACAAAACTTTGAACAAGGCTGACT < 41bp 1 0.6241874818107 1 0.183075219392776 experiment 0.751625036378601 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:256480 chr5:256491 nonsynonymous SNV 0.994 0 32 hm1A_associated_SNPs_3540 2 Uncertain significance Paragangliomas 5 RCV000204436.2
1269 chr9 98231279 98231279 1 + G A UCEC 98231269 - 98231249 98231289 41 GCACGGAGTACGACCCCCACACGCACGTGTACTACACCACC GCACGGAGTATGACCCCCACACGCACGTGTACTACACCACC < 41bp 1 0.363758558490938 1 0.10515969991684 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231269 chr9:98231279 synonymous SNV . 0 11 hm1A_associated_SNPs_3672 1 Benign Gorlin syndrome RCV000123003.4
1269 chr14 51094872 51094872 1 + C T UCEC 51094861 + 51094841 51094881 41 GGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACC GGTGAAGAAGATGGGTGGGGAAGAATTTAGCTGGCGTTACC < 41bp 1 0.412971199221159 1 0.156299114227295 experiment 1 Functional Loss 26863196;GSE70486;m1A-seq;HEK293;Control ATL1 ENSG00000198513 CDS Human protein_coding chr14:51094861 chr14:51094872 nonsynonymous SNV 1.000 4 32 hm1A_associated_SNPs_3734 2 Pathogenic Spastic paraplegia 3 RCV000004600.5
1269 chr14 51094872 51094872 1 + C T UCEC 51094861 + 51094841 51094881 41 GGTGAAGAAGATGGGTGGGGAAGAATTTAGCCGGCGTTACC GGTGAAGAAGATGGGTGGGGAAGAATTTAGCTGGCGTTACC < 41bp 1 0.412971199221159 1 0.156299114227295 experiment 1 Functional Loss 26863196;GSE70486;m1A-seq;HEK293;Control ATL1 ENSG00000198513 CDS Human protein_coding chr14:51094861 chr14:51094872 nonsynonymous SNV 1.000 4 32 hm1A_associated_SNPs_3734 2 Likely pathogenic Inborn genetic diseases RCV000190652.1
1269 chr9 732502 732502 1 + C T UCEC 732508 + 732488 732528 41 AGGATGAAGACACTCGGGGAATGGCAGAAGGGCACCATGCA AGGATGAAGACACTTGGGGAATGGCAGAAGGGCACCATGCA < 41bp 1 0.491316276825449 1 0.175913572311401 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control KANK1 ENSG00000107104 CDS Human protein_coding chr9:732508 chr9:732502 nonsynonymous SNV 0.989 1 15 hm1A_associated_SNPs_3752 1 Uncertain significance not specified RCV000259968.1
1269 chr14 29237392 29237392 1 + G A UCEC 29237387 + 29237367 29237407 41 CACCGGCCTCACCTTCATGGACCGCGCCGGCTCCCTCTACT CACCGGCCTCACCTTCATGGACCGCACCGGCTCCCTCTACT < 41bp 1 0.596176246791795 1 0.266029536724091 experiment 0.807647506416409 Functional Loss 26863196;GSE70486;m1A-seq;HEK293;Control FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237387 chr14:29237392 nonsynonymous SNV 1.000 1 26 hm1A_associated_SNPs_3824 1 Likely benign not specified RCV000428532.1
1269 chr17 7578218 7578218 1 + T C UCEC 7578210 - 7578190 7578230 41 GATGACAGAAACACTTTTCGACATAGTGTGGTGGTGCCCTA GATGACAGAAACGCTTTTCGACATAGTGTGGTGGTGCCCTA < 41bp 1 0.450588696389206 1 0.136682778596878 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control TP53 ENSG00000141510 CDS Human protein_coding chr17:7578210 chr17:7578218 nonsynonymous SNV 0.929 4 13 hm1A_associated_SNPs_3859 1 Uncertain significance Li-Fraumeni syndrome RCV000469438.1
1269 chr9 131395575 131395575 1 + G A UCEC 131395576 + 131395556 131395596 41 CGAGCTCCCCACCGCGTTCGACTACGTGGAGTTCACCCGCT CGAGCTCCCCACCGCGTTCAACTACGTGGAGTTCACCCGCT < 41bp 1 0.448548758515569 1 0.507667422294617 experiment 1 Functional Loss 29072297;GSE97419;m1A-seq;HEK293T;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131395576 chr9:131395575 nonsynonymous SNV 0.907 4 20 hm1A_associated_SNPs_3870 1 Uncertain significance not specified RCV000189539.2
1269 chr8 128750639 128750639 1 + C T UCEC 128750620 + 128750600 128750640 41 TCTACCAGCAGCAGCAGCAGAGCGAGCTGCAGCCCCCGGCG TCTACCAGCAGCAGCAGCAGAGCGAGCTGCAGCCCCCGGTG < 41bp 1 0.714297075707681 1 0.552263140678406 experiment 0.571405848584638 Functional Loss 26863196;GSE70486;m1A-seq;HEK293;Control MYC ENSG00000136997 CDS Human protein_coding chr8:128750620 chr8:128750639 nonsynonymous SNV 0.998 4 40 hm1A_associated_SNPs_3879 1 Likely pathogenic Neoplasm RCV000440255.1
1269 chr7 128485212 128485212 1 + C T UCEC 128485195 + 128485175 128485215 41 CCTTCCCTGGCACCTACACCATTACCATCAAGTATGGCGGG CCTTCCCTGGCACCTACACCATTACCATCAAGTATGGTGGG < 41bp 1 0.642440078208589 1 0.987073063850403 experiment 0.715119843582822 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control FLNC ENSG00000128591 CDS Human protein_coding chr7:128485195 chr7:128485212 synonymous SNV . 0 38 hm1A_associated_SNPs_3944 1 Likely benign not specified RCV000438339.1
1269 chr7 128485212 128485212 1 + C T UCEC 128485201 + 128485181 128485221 41 CTGGCACCTACACCATTACCATCAAGTATGGCGGGCATCCC CTGGCACCTACACCATTACCATCAAGTATGGTGGGCATCCC < 41bp 1 0.636516560797546 1 0.993356585502625 experiment 0.726966878404909 Functional Loss 31719534;GSE97908;miCLIP;HEK293T;Control FLNC ENSG00000128591 CDS Human protein_coding chr7:128485201 chr7:128485212 synonymous SNV . 0 32 hm1A_associated_SNPs_3945 1 Likely benign not specified RCV000438339.1
1269 chr22 19471511 19471511 1 + C T UCEC 19471506 + 19471486 19471526 41 TGATGGGTCAGAGCCTTCTGAGAAGCGCACACGGTTAGAAG TGATGGGTCAGAGCCTTCTGAGAAGTGCACACGGTTAGAAG < 41bp 1 0.410021730397085 1 0.201175421476364 experiment 1 Functional Loss 26863196;GSE70485;m1A-seq;HepG2;Control CDC45 ENSG00000093009 CDS Human protein_coding chr22:19471506 chr22:19471511 nonsynonymous SNV 1.000 2 26 hm1A_associated_SNPs_4467 1 Pathogenic Meier-gorlin syndrome 7 RCV000239541.2
1269 chr13 52602504 52602504 1 + G A UCEC 52602514 + 52602494 52602534 41 CACACAATTCGGGGGGCCCAAAGCTTGACATTGTGGTTCCT CACACAATTCAGGGGGCCCAAAGCTTGACATTGTGGTTCCT < 41bp 1 0.571688423246592 1 0.100254595279694 experiment 0.856623153506816 Functional Loss 26863196;GSE70487;m1A-seq;HeLa;Control ALG11 ENSG00000253710 CDS Human protein_coding chr13:52602514 chr13:52602504 nonsynonymous SNV 1.000 0 11 hm1A_associated_SNPs_4549 1 Likely benign not specified RCV000444031.1
1269 chr7 55086780 55086780 1 + A C rs712830 55086780 + 55086760 55086800 41 CCGCACGGTGTGAGCGCCCGACGCGGCCGAGGCGGCCGGAG CCGCACGGTGTGAGCGCCCGCCGCGGCCGAGGCGGCCGGAG Direct Loss 0.990042376864606 0 0.8729986 0.83045125 prediction 0.980084753729211 Functional Loss - EGFR ENSG00000146648 UTR5 Human protein_coding chr7:55086780 chr7:55086780 . . 0 21 hm1A_associated_SNPs_4587 1 Likely benign Lung cancer RCV000262345.1
1269 chr2 224822227 224822227 1 + A G COAD 224822227 + 224822207 224822247 41 AAGATTGCTGCAGCAGGGACATCGCTGCCTCCTGGCTCCAG AAGATTGCTGCAGCAGGGACGTCGCTGCCTCCTGGCTCCAG Direct Loss 0.97970737119531 0 0.64818263 0.6783698 prediction 0.959414742390619 Functional Loss - MRPL44 ENSG00000135900 CDS Human protein_coding chr2:224822227 chr2:224822227 nonsynonymous SNV 0.015 1 21 hm1A_associated_SNPs_4664 1 Likely benign not specified RCV000200780.1
1269 chr11 22214778 22214778 1 + A C rs114897158 22214778 + 22214758 22214798 41 AGCGCAGGGCCAAGCGCGCGAAGCAGGTTGTGGGGGACCGG AGCGCAGGGCCAAGCGCGCGCAGCAGGTTGTGGGGGACCGG Direct Loss 0.978235802325781 0 0.7784579 0.757356 prediction 0.956471604651563 Functional Loss - ANO5 ENSG00000171714 UTR5 Human protein_coding chr11:22214778 chr11:22214778 . . 0 21 hm1A_associated_SNPs_4684 2 Uncertain significance Miyoshi myopathy RCV000288149.1
1269 chr11 22214778 22214778 1 + A C rs114897158 22214778 + 22214758 22214798 41 AGCGCAGGGCCAAGCGCGCGAAGCAGGTTGTGGGGGACCGG AGCGCAGGGCCAAGCGCGCGCAGCAGGTTGTGGGGGACCGG Direct Loss 0.978235802325781 0 0.7784579 0.757356 prediction 0.956471604651563 Functional Loss - ANO5 ENSG00000171714 UTR5 Human protein_coding chr11:22214778 chr11:22214778 . . 0 21 hm1A_associated_SNPs_4684 2 Uncertain significance Limb-Girdle Muscular Dystrophy, Recessive RCV000384837.1
1269 chr13 43148519 43148519 1 + A G rs200788562 43148519 + 43148499 43148539 41 CGGCCCCGGAGCCCCGCACGAGGGCCCCCTGCACGCCCCGC CGGCCCCGGAGCCCCGCACGGGGGCCCCCTGCACGCCCCGC Direct Loss 0.977707509271342 0 0.79263073 0.80130124 prediction 0.955415018542684 Functional Loss - TNFSF11 ENSG00000120659 CDS Human protein_coding chr13:43148519 chr13:43148519 nonsynonymous SNV 0.517 0 21 hm1A_associated_SNPs_4694 1 Benign not specified RCV000173307.1
1269 chr6 43484915 43484915 1 + A G BRCA 43484915 + 43484895 43484935 41 GGGGGAGTTTGGGGTTCGCAATGTAAGCCTTGTGGCCTTGA GGGGGAGTTTGGGGTTCGCAGTGTAAGCCTTGTGGCCTTGA Direct Loss 0.973199435919051 0 0.6306852 0.63769436 prediction 0.946398871838102 Functional Loss - POLR1C ENSG00000171453 CDS Human protein_coding chr6:43484915 chr6:43484915 nonsynonymous SNV 1.000 2 21 hm1A_associated_SNPs_4758 1 Uncertain significance Treacher Collins Syndrome, Recessive RCV000373304.1
1269 chr17 43971785 43971785 1 + A G rs11575895 43971785 + 43971765 43971805 41 GGCGCTCGCGCGCGCCCACTAGTGGCCGGAGGAGAAGGCTC GGCGCTCGCGCGCGCCCACTGGTGGCCGGAGGAGAAGGCTC Direct Loss 0.971576925077541 0 0.90165365 0.8987591 prediction 0.943153850155082 Functional Loss - MAPT-AS1 ENSG00000264589 ncRNA_intronic Human antisense chr17:43971785 chr17:43971785 . . 0 21 hm1A_associated_SNPs_4795 1 Benign MAPT-Related Spectrum Disorders RCV000385655.1
1269 chr5 60240986 60240986 1 + A G rs158922 60240986 + 60240966 60241006 41 GGGCTCCAGGATGGAGGCCGACCTGACTTCTCCGCCTCGGT GGGCTCCAGGATGGAGGCCGGCCTGACTTCTCCGCCTCGGT Direct Loss 0.970353182570536 0 0.6555058 0.6503558 prediction 0.940706365141073 Functional Loss - NDUFAF2 ENSG00000164182 UTR5 Human protein_coding chr5:60240986 chr5:60240986 . . 0 21 hm1A_associated_SNPs_4809 3 Benign Leigh syndrome RCV000297972.1
1269 chr5 60240986 60240986 1 + A G rs158922 60240986 + 60240966 60241006 41 GGGCTCCAGGATGGAGGCCGACCTGACTTCTCCGCCTCGGT GGGCTCCAGGATGGAGGCCGGCCTGACTTCTCCGCCTCGGT Direct Loss 0.970353182570536 0 0.6555058 0.6503558 prediction 0.940706365141073 Functional Loss - NDUFAF2 ENSG00000164182 UTR5 Human protein_coding chr5:60240986 chr5:60240986 . . 0 21 hm1A_associated_SNPs_4809 3 Benign Cockayne syndrome RCV000337453.1
1269 chr5 60240986 60240986 1 + A G rs158922 60240986 + 60240966 60241006 41 GGGCTCCAGGATGGAGGCCGACCTGACTTCTCCGCCTCGGT GGGCTCCAGGATGGAGGCCGGCCTGACTTCTCCGCCTCGGT Direct Loss 0.970353182570536 0 0.6555058 0.6503558 prediction 0.940706365141073 Functional Loss - NDUFAF2 ENSG00000164182 UTR5 Human protein_coding chr5:60240986 chr5:60240986 . . 0 21 hm1A_associated_SNPs_4809 3 Benign Mitochondrial complex I deficiency RCV000401969.1
1269 chr17 7577517 7577517 1 + A C BRCA 7577517 + 7577497 7577537 41 ACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTC ACCTGGAGTCTTCCAGTGTGCTGATGGTGAGGATGGGCCTC Direct Loss 0.969080889224759 0 0.29671884 0.26112854 prediction 0.938161778449517 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577517 chr17:7577517 nonsynonymous SNV 0.970 5 21 hm1A_associated_SNPs_4828 7 Likely pathogenic Chronic lymphocytic leukemia RCV000417507.1
1269 chr17 7577517 7577517 1 + A C BRCA 7577517 + 7577497 7577537 41 ACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTC ACCTGGAGTCTTCCAGTGTGCTGATGGTGAGGATGGGCCTC Direct Loss 0.969080889224759 0 0.29671884 0.26112854 prediction 0.938161778449517 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577517 chr17:7577517 nonsynonymous SNV 0.970 5 21 hm1A_associated_SNPs_4828 7 Likely pathogenic Oesophageal carcinoma RCV000420747.1
1269 chr17 7577517 7577517 1 + A C BRCA 7577517 + 7577497 7577537 41 ACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTC ACCTGGAGTCTTCCAGTGTGCTGATGGTGAGGATGGGCCTC Direct Loss 0.969080889224759 0 0.29671884 0.26112854 prediction 0.938161778449517 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577517 chr17:7577517 nonsynonymous SNV 0.970 5 21 hm1A_associated_SNPs_4828 7 Likely pathogenic Pancreatic adenocarcinoma RCV000423148.1
1269 chr17 7577517 7577517 1 + A C BRCA 7577517 + 7577497 7577537 41 ACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTC ACCTGGAGTCTTCCAGTGTGCTGATGGTGAGGATGGGCCTC Direct Loss 0.969080889224759 0 0.29671884 0.26112854 prediction 0.938161778449517 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577517 chr17:7577517 nonsynonymous SNV 0.970 5 21 hm1A_associated_SNPs_4828 7 Likely pathogenic Adenocarcinoma of lung RCV000428170.1
1269 chr17 7577517 7577517 1 + A C BRCA 7577517 + 7577497 7577537 41 ACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTC ACCTGGAGTCTTCCAGTGTGCTGATGGTGAGGATGGGCCTC Direct Loss 0.969080889224759 0 0.29671884 0.26112854 prediction 0.938161778449517 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577517 chr17:7577517 nonsynonymous SNV 0.970 5 21 hm1A_associated_SNPs_4828 7 Likely pathogenic Neoplasm of the breast RCV000430544.1
1269 chr17 7577517 7577517 1 + A C BRCA 7577517 + 7577497 7577537 41 ACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTC ACCTGGAGTCTTCCAGTGTGCTGATGGTGAGGATGGGCCTC Direct Loss 0.969080889224759 0 0.29671884 0.26112854 prediction 0.938161778449517 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577517 chr17:7577517 nonsynonymous SNV 0.970 5 21 hm1A_associated_SNPs_4828 7 Likely pathogenic Glioblastoma RCV000441277.1
1269 chr17 7577517 7577517 1 + A C BRCA 7577517 + 7577497 7577537 41 ACCTGGAGTCTTCCAGTGTGATGATGGTGAGGATGGGCCTC ACCTGGAGTCTTCCAGTGTGCTGATGGTGAGGATGGGCCTC Direct Loss 0.969080889224759 0 0.29671884 0.26112854 prediction 0.938161778449517 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577517 chr17:7577517 nonsynonymous SNV 0.970 5 21 hm1A_associated_SNPs_4828 7 Likely pathogenic Neoplasm of brain RCV000441504.1
1269 chr12 121416650 121416650 1 + A C rs1169288 121416650 + 121416630 121416670 41 GGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCG GGCTGAGCAAAGAGGCACTGCTCCAGGCACTGGGTGAGCCG Direct Loss 0.968442295813093 0 0.6525709 0.52481306 prediction 0.936884591626186 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121416650 chr12:121416650 nonsynonymous SNV 0.999 2 21 hm1A_associated_SNPs_4842 4 other Insulin resistance, susceptibility to RCV000016074.3
1269 chr12 121416650 121416650 1 + A C rs1169288 121416650 + 121416630 121416670 41 GGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCG GGCTGAGCAAAGAGGCACTGCTCCAGGCACTGGGTGAGCCG Direct Loss 0.968442295813093 0 0.6525709 0.52481306 prediction 0.936884591626186 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121416650 chr12:121416650 nonsynonymous SNV 0.999 2 21 hm1A_associated_SNPs_4842 4 other SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF RCV000016075.27
1269 chr12 121416650 121416650 1 + A C rs1169288 121416650 + 121416630 121416670 41 GGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCG GGCTGAGCAAAGAGGCACTGCTCCAGGCACTGGGTGAGCCG Direct Loss 0.968442295813093 0 0.6525709 0.52481306 prediction 0.936884591626186 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121416650 chr12:121416650 nonsynonymous SNV 0.999 2 21 hm1A_associated_SNPs_4842 4 other not specified RCV000117233.6
1269 chr12 121416650 121416650 1 + A C rs1169288 121416650 + 121416630 121416670 41 GGCTGAGCAAAGAGGCACTGATCCAGGCACTGGGTGAGCCG GGCTGAGCAAAGAGGCACTGCTCCAGGCACTGGGTGAGCCG Direct Loss 0.968442295813093 0 0.6525709 0.52481306 prediction 0.936884591626186 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121416650 chr12:121416650 nonsynonymous SNV 0.999 2 21 hm1A_associated_SNPs_4842 4 Benign Maturity-onset diabetes of the young RCV000401319.1
1269 chr22 32894453 32894453 1 + A G rs144538200 32894453 + 32894433 32894473 41 GCCAGGGCGAGGCGGCCCCAATGACAGATTTCCCTTTAGAC GCCAGGGCGAGGCGGCCCCAGTGACAGATTTCCCTTTAGAC Direct Loss 0.967742341529825 0 0.3591193 0.30291563 prediction 0.93548468305965 Functional Loss - FBXO7 ENSG00000100225 CDS Human protein_coding chr22:32894453 chr22:32894453 nonsynonymous SNV 0.306 0 21 hm1A_associated_SNPs_4854 1 Uncertain significance Parkinson Disease, Recessive RCV000263188.1
1269 chr2 27309659 27309659 1 + A C rs6742004 27309659 + 27309639 27309679 41 CAGGCAGGGCTGCAGATGCGAGGCCCAGCTGTACCTCGCGT CAGGCAGGGCTGCAGATGCGCGGCCCAGCTGTACCTCGCGT Direct Loss 0.967567982081284 0 0.74805903 0.7552522 prediction 0.935135964162567 Functional Loss - KHK ENSG00000138030 UTR5 Human protein_coding chr2:27309659 chr2:27309659 . . 0 21 hm1A_associated_SNPs_4859 1 Benign Fructosuria, essential RCV000351503.1
1269 chr19 12917520 12917520 1 + A G rs11554400 12917520 + 12917500 12917540 41 GAGCTGGAGAGAGACAATACAGGCCGCTGTCGCCTGAGTTC GAGCTGGAGAGAGACAATACGGGCCGCTGTCGCCTGAGTTC Direct Loss 0.966456263067185 0 0.65841174 0.69692314 prediction 0.93291252613437 Functional Loss - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12917520 chr19:12917520 synonymous SNV . 0 21 hm1A_associated_SNPs_4886 2 Benign not specified RCV000244231.1
1269 chr19 12917520 12917520 1 + A G rs11554400 12917520 + 12917500 12917540 41 GAGCTGGAGAGAGACAATACAGGCCGCTGTCGCCTGAGTTC GAGCTGGAGAGAGACAATACGGGCCGCTGTCGCCTGAGTTC Direct Loss 0.966456263067185 0 0.65841174 0.69692314 prediction 0.93291252613437 Functional Loss - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12917520 chr19:12917520 synonymous SNV . 0 21 hm1A_associated_SNPs_4886 2 Likely benign Aicardi Goutieres syndrome RCV000357131.1
1269 chr6 47445789 47445789 1 + A C rs1056434 47445789 + 47445769 47445809 41 CCGCCTTTGCCTCTGCCTCGAGGGCCGCGCTGAAGAGACTG CCGCCTTTGCCTCTGCCTCGCGGGCCGCGCTGAAGAGACTG Direct Loss 0.962923737557629 0 0.59737766 0.61110395 prediction 0.925847475115258 Functional Loss - CD2AP ENSG00000198087 UTR5 Human protein_coding chr6:47445789 chr6:47445789 . . 0 21 hm1A_associated_SNPs_4977 1 Benign Focal segmental glomerulosclerosis RCV000372105.1
1269 chr11 61197631 61197631 1 + A G UCEC 61197631 + 61197611 61197651 41 TGGGGAAAATGGCGGTGTCTACAGTGTTCTCGACTTCGTCG TGGGGAAAATGGCGGTGTCTGCAGTGTTCTCGACTTCGTCG Direct Loss 0.9623362461485 0 0.7202079 0.7176841 prediction 0.924672492297001 Functional Loss - SDHAF2 ENSG00000167985;ENSG00000256591 CDS Human other chr11:61197631 chr11:61197631 nonsynonymous SNV 0.000 0 21 hm1A_associated_SNPs_4989 1 Uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes RCV000457612.1
1269 chr4 187112826 187112826 1 + A G rs2241819 187112826 + 187112806 187112846 41 CTGGCCGCCGCCCGGGCGGGAAACGTCGTTCCGGGGACCGG CTGGCCGCCGCCCGGGCGGGGAACGTCGTTCCGGGGACCGG Direct Loss 0.95928679608654 0 0.8507176 0.81237304 prediction 0.918573592173079 Functional Loss - CYP4V2 ENSG00000145476 UTR5 Human protein_coding chr4:187112826 chr4:187112826 . . 0 21 hm1A_associated_SNPs_5060 2 Benign Corneal Dystrophy, Recessive RCV000273471.1
1269 chr4 187112826 187112826 1 + A G rs2241819 187112826 + 187112806 187112846 41 CTGGCCGCCGCCCGGGCGGGAAACGTCGTTCCGGGGACCGG CTGGCCGCCGCCCGGGCGGGGAACGTCGTTCCGGGGACCGG Direct Loss 0.95928679608654 0 0.8507176 0.81237304 prediction 0.918573592173079 Functional Loss - CYP4V2 ENSG00000145476 UTR5 Human protein_coding chr4:187112826 chr4:187112826 . . 0 21 hm1A_associated_SNPs_5060 2 Benign Bietti crystalline corneoretinal dystrophy RCV000368046.1
1269 chr10 103825330 103825330 1 + A G rs139591041 103825330 + 103825310 103825350 41 GCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGG GCCGGGGACTCAGCGGTCCGGGTCCGTGGCAGTCCGGACGG Direct Loss 0.958836183424737 0 0.91980875 0.857468 prediction 0.917672366849473 Functional Loss - HPS6 ENSG00000166189 CDS Human protein_coding chr10:103825330 chr10:103825330 synonymous SNV . 0 21 hm1A_associated_SNPs_5073 2 Benign not specified RCV000150829.3
1269 chr10 103825330 103825330 1 + A G rs139591041 103825330 + 103825310 103825350 41 GCCGGGGACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGG GCCGGGGACTCAGCGGTCCGGGTCCGTGGCAGTCCGGACGG Direct Loss 0.958836183424737 0 0.91980875 0.857468 prediction 0.917672366849473 Functional Loss - HPS6 ENSG00000166189 CDS Human protein_coding chr10:103825330 chr10:103825330 synonymous SNV . 0 21 hm1A_associated_SNPs_5073 2 Likely benign Hermansky-Pudlak syndrome RCV000339141.1
1269 chr4 140375183 140375183 1 + A C rs190790812 140375183 + 140375163 140375203 41 GTGCCACACCTGTGCGGGCAAGGGCGGGGCGGGAAGGTGCG GTGCCACACCTGTGCGGGCACGGGCGGGGCGGGAAGGTGCG Direct Loss 0.958376947992986 0 0.69991976 0.71880174 prediction 0.916753895985972 Functional Loss - RAB33B ENSG00000273247 ncRNA_exonic Human antisense chr4:140375183 chr4:140375183 . . 0 21 hm1A_associated_SNPs_5090 1 Uncertain significance Smith-McCort dysplasia RCV000399338.1
1269 chr15 101420155 101420155 1 + A G rs1130737 101420155 + 101420135 101420175 41 TGGAAAACGGGCAGCCGGACAGGAAGCCGCCGGCCCTGCCG TGGAAAACGGGCAGCCGGACGGGAAGCCGCCGGCCCTGCCG Direct Loss 0.957705119188893 0 0.73388743 0.7740505 prediction 0.915410238377787 Functional Loss - ALDH1A3 ENSG00000184254 CDS Human protein_coding chr15:101420155 chr15:101420155 nonsynonymous SNV 0.894 0 21 hm1A_associated_SNPs_5106 1 Likely benign not provided RCV000224752.1
1269 chr7 21582964 21582964 1 + A T rs2285944 21582964 + 21582944 21582984 41 GGAGGCAGTGGGCGCTGTGGAGCTCGAGGAGGAGGAGGAGA GGAGGCAGTGGGCGCTGTGGTGCTCGAGGAGGAGGAGGAGA Direct Loss 0.95735901894086 0 0.8326272 0.8290739 prediction 0.914718037881719 Functional Loss - DNAH11 ENSG00000105877 CDS Human protein_coding chr7:21582964 chr7:21582964 nonsynonymous SNV 0.043 1 21 hm1A_associated_SNPs_5118 2 Benign not specified RCV000079615.4
1269 chr7 21582964 21582964 1 + A T rs2285944 21582964 + 21582944 21582984 41 GGAGGCAGTGGGCGCTGTGGAGCTCGAGGAGGAGGAGGAGA GGAGGCAGTGGGCGCTGTGGTGCTCGAGGAGGAGGAGGAGA Direct Loss 0.95735901894086 0 0.8326272 0.8290739 prediction 0.914718037881719 Functional Loss - DNAH11 ENSG00000105877 CDS Human protein_coding chr7:21582964 chr7:21582964 nonsynonymous SNV 0.043 1 21 hm1A_associated_SNPs_5118 2 Benign Primary ciliary dyskinesia RCV000403909.1
1269 chr9 136507444 136507444 1 + A G rs45465204 136507444 + 136507424 136507464 41 GGTGCAGCTCCTGAAGCCCAATATCCCCGAACCGGAGTTGC GGTGCAGCTCCTGAAGCCCAGTATCCCCGAACCGGAGTTGC Direct Loss 0.955768639353399 0 0.5225555 0.4692633 prediction 0.911537278706799 Functional Loss - DBH ENSG00000123454 CDS Human protein_coding chr9:136507444 chr9:136507444 nonsynonymous SNV 0.002 0 21 hm1A_associated_SNPs_5160 1 Likely benign Dopamine beta hydroxylase deficiency RCV000335908.1
1269 chr2 241808347 241808347 1 + A G rs34885252 241808347 + 241808327 241808367 41 CAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTG CAAGCCCCTCTCCATCCCCAGCCAGCTCCTGCTGGGGCCTG Direct Loss 0.953369776095361 0 0.29059112 0.24239191 prediction 0.906739552190722 Functional Loss - AGXT ENSG00000172482 CDS Human protein_coding chr2:241808347 chr2:241808347 nonsynonymous SNV 0.000 1 21 hm1A_associated_SNPs_5220 3 Uncertain significance Primary hyperoxaluria, type I RCV000186222.1
1269 chr2 241808347 241808347 1 + A G rs34885252 241808347 + 241808327 241808367 41 CAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTG CAAGCCCCTCTCCATCCCCAGCCAGCTCCTGCTGGGGCCTG Direct Loss 0.953369776095361 0 0.29059112 0.24239191 prediction 0.906739552190722 Functional Loss - AGXT ENSG00000172482 CDS Human protein_coding chr2:241808347 chr2:241808347 nonsynonymous SNV 0.000 1 21 hm1A_associated_SNPs_5220 3 Benign not specified RCV000280164.1
1269 chr2 241808347 241808347 1 + A G rs34885252 241808347 + 241808327 241808367 41 CAAGCCCCTCTCCATCCCCAACCAGCTCCTGCTGGGGCCTG CAAGCCCCTCTCCATCCCCAGCCAGCTCCTGCTGGGGCCTG Direct Loss 0.953369776095361 0 0.29059112 0.24239191 prediction 0.906739552190722 Functional Loss - AGXT ENSG00000172482 CDS Human protein_coding chr2:241808347 chr2:241808347 nonsynonymous SNV 0.000 1 21 hm1A_associated_SNPs_5220 3 Likely benign Primary hyperoxaluria RCV000395994.1
1269 chr12 64202558 64202558 1 + C T COAD 64202560 + 64202540 64202580 41 GTAAACACAGAATGCTATCGAATCTATGAGGCTTGCTCCTA GTAAACACAGAATGCTATTGAATCTATGAGGCTTGCTCCTA < 41bp 0.784582003897285 0.496014916750995 0.6358203 0.44518918 prediction 0.56916400779457 Functional Loss - TMEM5 ENSG00000118600 CDS Human protein_coding chr12:64202560 chr12:64202558 stopgain 0.429 1 19 hm1A_associated_SNPs_5309 1 Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 RCV000043551.3
1269 chr1 236925910 236925910 1 + C T PAAD 236925912 + 236925892 236925932 41 CGCACTCTACGGGGAGAGCGATCTGTGATGCTGAGCTTCTG CGCACTCTACGGGGAGAGTGATCTGTGATGCTGAGCTTCTG < 41bp 0.783755668476432 0.475744133716596 0.71294713 0.34204435 prediction 0.567511336952863 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236925912 chr1:236925910 synonymous SNV . 0 19 hm1A_associated_SNPs_5319 3 Likely benign not specified RCV000036907.3
1269 chr1 236925910 236925910 1 + C T PAAD 236925912 + 236925892 236925932 41 CGCACTCTACGGGGAGAGCGATCTGTGATGCTGAGCTTCTG CGCACTCTACGGGGAGAGTGATCTGTGATGCTGAGCTTCTG < 41bp 0.783755668476432 0.475744133716596 0.71294713 0.34204435 prediction 0.567511336952863 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236925912 chr1:236925910 synonymous SNV . 0 19 hm1A_associated_SNPs_5319 3 Likely benign Dilated cardiomyopathy 1AA RCV000461026.1
1269 chr1 236925910 236925910 1 + C T PAAD 236925912 + 236925892 236925932 41 CGCACTCTACGGGGAGAGCGATCTGTGATGCTGAGCTTCTG CGCACTCTACGGGGAGAGTGATCTGTGATGCTGAGCTTCTG < 41bp 0.783755668476432 0.475744133716596 0.71294713 0.34204435 prediction 0.567511336952863 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236925912 chr1:236925910 synonymous SNV . 0 19 hm1A_associated_SNPs_5319 3 Likely benign Primary familial hypertrophic cardiomyopathy RCV000461026.1
1269 chr18 28972163 28972163 1 + C T KIRC 28972165 + 28972145 28972185 41 TTAAGTTCGGAACTGATACGATTACAAGCAATTGATCTTGA TTAAGTTCGGAACTGATATGATTACAAGCAATTGATCTTGA < 41bp 0.80787849960075 0.531320888516556 0.2196626 0.089659035 prediction 0.553115222168387 Functional Loss - DSG4 ENSG00000175065 CDS Human protein_coding chr18:28972165 chr18:28972163 stopgain 0.997 0 19 hm1A_associated_SNPs_5434 1 Pathogenic Hypotrichosis 6 RCV000002845.2
1269 chr1 150461542 150461542 1 + C T UCEC 150461544 + 150461524 150461564 41 CCTCAGATTTCTGACATTCGATTCCCCAGAGGGGAAAGCAG CCTCAGATTTCTGACATTTGATTCCCCAGAGGGGAAAGCAG < 41bp 0.790489666568536 0.518742346972244 0.6451865 0.0932219 prediction 0.543494639192584 Functional Loss - TARS2 ENSG00000143374 CDS Human protein_coding chr1:150461544 chr1:150461542 synonymous SNV . 0 19 hm1A_associated_SNPs_5562 1 Likely benign not specified RCV000428852.1
1269 chr12 119631624 119631624 1 + C T rs112052602 119631626 + 119631606 119631646 41 AGAGAGCAGTTTCAACAACGAGCTTCCCCAGGACAGCCAGG AGAGAGCAGTTTCAACAATGAGCTTCCCCAGGACAGCCAGG < 41bp 0.805156539712376 0.535446576646249 0.07864082 0.060286015 prediction 0.539419926132255 Functional Loss - HSPB8 ENSG00000152137 CDS Human protein_coding chr12:119631626 chr12:119631624 synonymous SNV . 0 19 hm1A_associated_SNPs_5637 4 Likely benign Distal hereditary motor neuronopathy RCV000280226.1
1269 chr12 119631624 119631624 1 + C T rs112052602 119631626 + 119631606 119631646 41 AGAGAGCAGTTTCAACAACGAGCTTCCCCAGGACAGCCAGG AGAGAGCAGTTTCAACAATGAGCTTCCCCAGGACAGCCAGG < 41bp 0.805156539712376 0.535446576646249 0.07864082 0.060286015 prediction 0.539419926132255 Functional Loss - HSPB8 ENSG00000152137 CDS Human protein_coding chr12:119631626 chr12:119631624 synonymous SNV . 0 19 hm1A_associated_SNPs_5637 4 Likely benign Charcot-Marie-Tooth, Type 2 RCV000387740.1
1269 chr12 119631624 119631624 1 + C T rs112052602 119631626 + 119631606 119631646 41 AGAGAGCAGTTTCAACAACGAGCTTCCCCAGGACAGCCAGG AGAGAGCAGTTTCAACAATGAGCTTCCCCAGGACAGCCAGG < 41bp 0.805156539712376 0.535446576646249 0.07864082 0.060286015 prediction 0.539419926132255 Functional Loss - HSPB8 ENSG00000152137 CDS Human protein_coding chr12:119631626 chr12:119631624 synonymous SNV . 0 19 hm1A_associated_SNPs_5637 4 Benign not specified RCV000426819.1
1269 chr12 119631624 119631624 1 + C T rs112052602 119631626 + 119631606 119631646 41 AGAGAGCAGTTTCAACAACGAGCTTCCCCAGGACAGCCAGG AGAGAGCAGTTTCAACAATGAGCTTCCCCAGGACAGCCAGG < 41bp 0.805156539712376 0.535446576646249 0.07864082 0.060286015 prediction 0.539419926132255 Functional Loss - HSPB8 ENSG00000152137 CDS Human protein_coding chr12:119631626 chr12:119631624 synonymous SNV . 0 19 hm1A_associated_SNPs_5637 4 Benign Charcot-Marie-Tooth disease, type 2L RCV000467640.1
1269 chr1 247587657 247587657 1 + C T GBM 247587659 + 247587639 247587679 41 CTTCCTCATGGACGGCTTCGATGAGCTGCAAGGTGCCTTTG CTTCCTCATGGACGGCTTTGATGAGCTGCAAGGTGCCTTTG < 41bp 0.769123891832197 0.489587239124105 0.7649439 0.34544498 prediction 0.538247783664393 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587659 chr1:247587657 synonymous SNV . 0 19 hm1A_associated_SNPs_5663 1 Likely benign not specified RCV000429880.1
1269 chr4 6303832 6303832 1 + C T SKCM 6303834 + 6303814 6303854 41 CTGCCACATCAAGAAGTTCGACCGCTACAAGTTTGAGATTA CTGCCACATCAAGAAGTTTGACCGCTACAAGTTTGAGATTA < 41bp 0.788355302355975 0.520579652661156 0.5694926 0.12385115 prediction 0.535551299389639 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303834 chr4:6303832 synonymous SNV . 0 19 hm1A_associated_SNPs_5724 1 Likely benign not specified RCV000434111.1
1269 chr11 95546134 95546134 1 + C T COAD 95546136 + 95546116 95546156 41 AATCTTCAAGATAAGATTCGACGCTTGGAACTTGAGAGGAT AATCTTCAAGATAAGATTTGACGCTTGGAACTTGAGAGGAT < 41bp 0.779270094377829 0.511617623081123 0.15210673 0.06284678 prediction 0.535304942593412 Functional Loss - CEP57 ENSG00000166037 CDS Human protein_coding chr11:95546136 chr11:95546134 stopgain 1.000 1 19 hm1A_associated_SNPs_5733 1 Pathogenic Mosaic variegated aneuploidy syndrome 2 RCV000023670.2
1269 chr11 126278075 126278075 1 + C T rs2230279 126278077 + 126278057 126278097 41 AGATGCCATCAACAAGTACGATGTGGTCATCAGGTGTGTGT AGATGCCATCAACAAGTATGATGTGGTCATCAGGTGTGTGT < 41bp 0.766083995349292 0.499722491619072 0.18154594 0.10780844 prediction 0.532167990698585 Functional Loss - ST3GAL4 ENSG00000110080 CDS Human protein_coding chr11:126278077 chr11:126278075 nonsynonymous SNV . 0 19 hm1A_associated_SNPs_5805 1 Benign not specified RCV000241833.1
1269 chr8 37602108 37602108 1 + C T rs16887018 37602110 + 37602090 37602130 41 GTATGATATAGTGAAGAACTATACTGCTGACTATGACAAGG GTATGATATAGTGAAGAATTATACTGCTGACTATGACAAGG < 41bp 0.785469031489103 0.520053236209112 0.108208925 0.09410527 prediction 0.530831590559982 Functional Loss - ERLIN2 ENSG00000147475 CDS Human protein_coding chr8:37602110 chr8:37602108 synonymous SNV . 0 19 hm1A_associated_SNPs_5834 2 other not specified RCV000117002.3
1269 chr8 37602108 37602108 1 + C T rs16887018 37602110 + 37602090 37602130 41 GTATGATATAGTGAAGAACTATACTGCTGACTATGACAAGG GTATGATATAGTGAAGAATTATACTGCTGACTATGACAAGG < 41bp 0.785469031489103 0.520053236209112 0.108208925 0.09410527 prediction 0.530831590559982 Functional Loss - ERLIN2 ENSG00000147475 CDS Human protein_coding chr8:37602110 chr8:37602108 synonymous SNV . 0 19 hm1A_associated_SNPs_5834 2 Benign Spastic paraplegia RCV000465138.1
1269 chr9 12704564 12704564 1 + C T READ 12704566 + 12704546 12704586 41 AAGTATGACCCTGCTGTTCGAAGTCTTCACAATTTGGCTCA AAGTATGACCCTGCTGTTTGAAGTCTTCACAATTTGGCTCA < 41bp 0.764323738634013 0.484924453261899 0.15617856 0.07854265 prediction 0.528647477268026 Functional Loss - TYRP1 ENSG00000107165 CDS Human protein_coding chr9:12704566 chr9:12704564 stopgain 1.000 1 19 hm1A_associated_SNPs_5897 1 Pathogenic Oculocutaneous albinism type 3 RCV000019161.28
1269 chrX 73740843 73740843 1 + C T UCEC 73740845 + 73740825 73740865 41 CATGGGTCGGAGCCCTCGCGATGGGTATGATCTTCTTCTGT CATGGGTCGGAGCCCTCGTGATGGGTATGATCTTCTTCTGT < 41bp 0.79085420097444 0.52841594342443 0.6190424 0.23184058 prediction 0.524876515100019 Functional Loss - SLC16A2 ENSG00000147100 CDS Human protein_coding chrX:73740845 chrX:73740843 nonsynonymous SNV 0.723 1 19 hm1A_associated_SNPs_6001 2 Pathogenic Allan-Herndon-Dudley syndrome RCV000012400.17
1269 chrX 73740843 73740843 1 + C T UCEC 73740845 + 73740825 73740865 41 CATGGGTCGGAGCCCTCGCGATGGGTATGATCTTCTTCTGT CATGGGTCGGAGCCCTCGTGATGGGTATGATCTTCTTCTGT < 41bp 0.79085420097444 0.52841594342443 0.6190424 0.23184058 prediction 0.524876515100019 Functional Loss - SLC16A2 ENSG00000147100 CDS Human protein_coding chrX:73740845 chrX:73740843 nonsynonymous SNV 0.723 1 19 hm1A_associated_SNPs_6001 2 Pathogenic not provided RCV000081445.3
1269 chr15 66783261 66783261 1 + C A rs14303 66783263 + 66783243 66783283 41 TGTGGGTAGTCATTCTTACAATTGCACTGCTGTTCCTGCTC TGTGGGTAGTCATTCTTAAAATTGCACTGCTGTTCCTGCTC < 41bp 0.761925412672639 0.430508518838617 0.053180426 0.04920882 prediction 0.523850825345278 Functional Loss - MAP2K1 ENSG00000261351 ncRNA_intronic Human antisense chr15:66783263 chr15:66783261 . . 0 19 hm1A_associated_SNPs_6031 2 Likely benign Noonan syndrome RCV000275926.1
1269 chr15 66783261 66783261 1 + C A rs14303 66783263 + 66783243 66783283 41 TGTGGGTAGTCATTCTTACAATTGCACTGCTGTTCCTGCTC TGTGGGTAGTCATTCTTAAAATTGCACTGCTGTTCCTGCTC < 41bp 0.761925412672639 0.430508518838617 0.053180426 0.04920882 prediction 0.523850825345278 Functional Loss - MAP2K1 ENSG00000261351 ncRNA_intronic Human antisense chr15:66783263 chr15:66783261 . . 0 19 hm1A_associated_SNPs_6031 2 Likely benign Cardio-facio-cutaneous syndrome RCV000333406.1
1269 chr11 30255185 30255185 1 + C T rs6169 30255187 + 30255167 30255207 41 CTTCAAGGAACTGGTATACGAAACAGTGAGAGTGCCCGGCT CTTCAAGGAACTGGTATATGAAACAGTGAGAGTGCCCGGCT < 41bp 0.761113515685523 0.487463662918272 0.13105068 0.10909447 prediction 0.522227031371047 Functional Loss - FSHB ENSG00000131808 CDS Human protein_coding chr11:30255187 chr11:30255185 synonymous SNV . 0 19 hm1A_associated_SNPs_6090 2 Benign not specified RCV000249738.1
1269 chr11 30255185 30255185 1 + C T rs6169 30255187 + 30255167 30255207 41 CTTCAAGGAACTGGTATACGAAACAGTGAGAGTGCCCGGCT CTTCAAGGAACTGGTATATGAAACAGTGAGAGTGCCCGGCT < 41bp 0.761113515685523 0.487463662918272 0.13105068 0.10909447 prediction 0.522227031371047 Functional Loss - FSHB ENSG00000131808 CDS Human protein_coding chr11:30255187 chr11:30255185 synonymous SNV . 0 19 hm1A_associated_SNPs_6090 2 Likely benign isolated follicle-stimulating hormone deficiency RCV000324366.1
1269 chr5 169535491 169535491 1 + C T HNSC 169535493 + 169535473 169535513 41 GCGGTGGGGGTGACTGGGCGAACCCCATGCCCACCAACATG GCGGTGGGGGTGACTGGGTGAACCCCATGCCCACCAACATG < 41bp 0.759943347372154 0.485752929305012 0.22675368 0.0954344 prediction 0.519886694744307 Functional Loss - FOXI1 ENSG00000168269 CDS Human protein_coding chr5:169535493 chr5:169535491 nonsynonymous SNV 0.643 1 19 hm1A_associated_SNPs_6165 2 Uncertain significance Pendred's syndrome RCV000265990.1
1269 chr5 169535491 169535491 1 + C T HNSC 169535493 + 169535473 169535513 41 GCGGTGGGGGTGACTGGGCGAACCCCATGCCCACCAACATG GCGGTGGGGGTGACTGGGTGAACCCCATGCCCACCAACATG < 41bp 0.759943347372154 0.485752929305012 0.22675368 0.0954344 prediction 0.519886694744307 Functional Loss - FOXI1 ENSG00000168269 CDS Human protein_coding chr5:169535493 chr5:169535491 nonsynonymous SNV 0.643 1 19 hm1A_associated_SNPs_6165 2 Uncertain significance Nonsyndromic Hearing Loss, Mixed RCV000358373.1
1269 chr14 70490034 70490034 1 + C T rs11846426 70490036 + 70490016 70490056 41 GCGGGAGATGAAGCCCTTCAAGCGCTACGTGAAGAAGAAAG GCGGGAGATGAAGCCCTTTAAGCGCTACGTGAAGAAGAAAG < 41bp 0.75968830414067 0.492711976220316 0.3540776 0.4021087 prediction 0.519376608281341 Functional Loss - SMOC1 ENSG00000198732 CDS Human protein_coding chr14:70490036 chr14:70490034 synonymous SNV . 0 19 hm1A_associated_SNPs_6185 1 Benign not specified RCV000244730.1
1269 chr11 13733493 13733493 1 + C T SKCM 13733495 + 13733475 13733515 41 GCAGGGAAAGGAATTCTTCGAACAATACGTGCCTCCAACAA GCAGGGAAAGGAATTCTTTGAACAATACGTGCCTCCAACAA < 41bp 0.760722223739076 0.501439735811933 0.21683156 0.13620475 prediction 0.518564975854287 Functional Loss - FAR1 ENSG00000197601 CDS Human protein_coding chr11:13733495 chr11:13733493 stopgain 1.000 1 19 hm1A_associated_SNPs_6211 1 Pathogenic Peroxisomal fatty acyl-coa reductase 1 disorder RCV000149593.3
1269 chr17 59560463 59560463 1 + C T rs7218485 59560465 + 59560445 59560485 41 CGGGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGCTGA CGGGGTGTCTGGGGTGGATGACCTGCCCCCACCTCCGCTGA < 41bp 0.801805201274742 0.543247401217135 0.685481 0.5087064 prediction 0.517115600115214 Functional Loss - TBX4 ENSG00000121075 CDS Human protein_coding chr17:59560465 chr17:59560463 synonymous SNV . 0 19 hm1A_associated_SNPs_6264 1 Benign Ischiopatellar dysplasia RCV000351494.1
1269 chr19 50906815 50906815 1 + C T CESC 50906817 + 50906797 50906837 41 TTACAACATCCAGAACTTCGACCTTCCGTACCTCATCTCTC TTACAACATCCAGAACTTTGACCTTCCGTACCTCATCTCTC < 41bp 0.765377525580353 0.506915732030664 0.4819871 0.49662778 prediction 0.516923587099378 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906817 chr19:50906815 synonymous SNV . 0 19 hm1A_associated_SNPs_6273 1 Likely benign Colorectal cancer 10 RCV000465435.1
1269 chr20 18507152 18507152 1 + C T UCEC 18507154 + 18507134 18507174 41 ATTGAGAAAGATAATGCACGATTCATGAAAAAGGCAACCAA ATTGAGAAAGATAATGCATGATTCATGAAAAAGGCAACCAA < 41bp 0.758060299308266 0.466108556070594 0.22895876 0.07505581 prediction 0.516120598616533 Functional Loss - SEC23B ENSG00000101310 CDS Human protein_coding chr20:18507154 chr20:18507152 stopgain 1.000 1 19 hm1A_associated_SNPs_6312 1 Pathogenic Congenital dyserythropoietic anemia, type II RCV000001285.4
1269 chr4 155488821 155488821 1 + C T rs6056 155488823 + 155488803 155488843 41 AGATGAGACTGTGAATAGCAATATCCCAACTAACCTTCGTG AGATGAGACTGTGAATAGTAATATCCCAACTAACCTTCGTG < 41bp 0.756912046530576 0.479781308321457 0.0695124 0.08398765 prediction 0.513824093061153 Functional Loss - FGB ENSG00000171564 CDS Human protein_coding chr4:155488823 chr4:155488821 synonymous SNV . 0 19 hm1A_associated_SNPs_6409 2 Benign not specified RCV000253184.1
1269 chr4 155488821 155488821 1 + C T rs6056 155488823 + 155488803 155488843 41 AGATGAGACTGTGAATAGCAATATCCCAACTAACCTTCGTG AGATGAGACTGTGAATAGTAATATCCCAACTAACCTTCGTG < 41bp 0.756912046530576 0.479781308321457 0.0695124 0.08398765 prediction 0.513824093061153 Functional Loss - FGB ENSG00000171564 CDS Human protein_coding chr4:155488823 chr4:155488821 synonymous SNV . 0 19 hm1A_associated_SNPs_6409 2 Benign Afibrinogenemia, congenital RCV000278745.1
1269 chr11 57373548 57373548 1 + C T rs35788383 57373550 + 57373530 57373570 41 AGCAGCAGCCCCAGAGTCCTAAGCAACAACAGTGACGCCAA AGCAGCAGCCCCAGAGTCTTAAGCAACAACAGTGACGCCAA < 41bp 0.756397333478236 0.497590568000692 0.13054454 0.1312725 prediction 0.512794666956472 Functional Loss - SERPING1 ENSG00000149131 CDS Human protein_coding chr11:57373550 chr11:57373548 synonymous SNV . 0 19 hm1A_associated_SNPs_6454 2 Likely benign Hereditary Angioedema RCV000296699.1
1269 chr11 57373548 57373548 1 + C T rs35788383 57373550 + 57373530 57373570 41 AGCAGCAGCCCCAGAGTCCTAAGCAACAACAGTGACGCCAA AGCAGCAGCCCCAGAGTCTTAAGCAACAACAGTGACGCCAA < 41bp 0.756397333478236 0.497590568000692 0.13054454 0.1312725 prediction 0.512794666956472 Functional Loss - SERPING1 ENSG00000149131 CDS Human protein_coding chr11:57373550 chr11:57373548 synonymous SNV . 0 19 hm1A_associated_SNPs_6454 2 Benign not specified RCV000430524.1
1269 chr18 60027236 60027236 1 + C T UCEC 60027238 + 60027218 60027258 41 TCATGGGACAGAGAAATCCGATGCGGTTTGCAGTTCTTCTC TCATGGGACAGAGAAATCTGATGCGGTTTGCAGTTCTTCTC < 41bp 0.756223582896588 0.47353550741687 0.24233708 0.113946766 prediction 0.512447165793175 Functional Loss - TNFRSF11A ENSG00000141655 CDS Human protein_coding chr18:60027238 chr18:60027236 synonymous SNV . 0 19 hm1A_associated_SNPs_6466 1 Benign not specified RCV000305548.1
1269 chr4 6303706 6303706 1 + C T rs71530908 6303708 + 6303688 6303728 41 GCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACG GCTCCCGTTCTTCATCGGTGACTGGATGCGCTGCCTCTACG < 41bp 0.756146530190207 0.498500189887664 0.70438516 0.6687628 prediction 0.512293060380415 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303708 chr4:6303706 synonymous SNV . 0 19 hm1A_associated_SNPs_6474 3 Benign not specified RCV000038652.4
1269 chr4 6303706 6303706 1 + C T rs71530908 6303708 + 6303688 6303728 41 GCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACG GCTCCCGTTCTTCATCGGTGACTGGATGCGCTGCCTCTACG < 41bp 0.756146530190207 0.498500189887664 0.70438516 0.6687628 prediction 0.512293060380415 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303708 chr4:6303706 synonymous SNV . 0 19 hm1A_associated_SNPs_6474 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000318906.1
1269 chr4 6303706 6303706 1 + C T rs71530908 6303708 + 6303688 6303728 41 GCTCCCGTTCTTCATCGGCGACTGGATGCGCTGCCTCTACG GCTCCCGTTCTTCATCGGTGACTGGATGCGCTGCCTCTACG < 41bp 0.756146530190207 0.498500189887664 0.70438516 0.6687628 prediction 0.512293060380415 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303708 chr4:6303706 synonymous SNV . 0 19 hm1A_associated_SNPs_6474 3 Likely benign WFS1-Related Spectrum Disorders RCV000378185.1
1269 chr12 64199152 64199152 1 + C T GBM 64199154 + 64199134 64199174 41 TTTGAAAAAAGATGGGAACGATAAGCTTTGTTGGGTTTCAG TTTGAAAAAAGATGGGAATGATAAGCTTTGTTGGGTTTCAG < 41bp 0.824869793963888 0.569705285956103 0.17713276 0.10891619 prediction 0.510329016015571 Functional Loss - TMEM5 ENSG00000118600 CDS Human protein_coding chr12:64199154 chr12:64199152 synonymous SNV . 0 19 hm1A_associated_SNPs_6564 1 Likely benign not specified RCV000426072.1
1269 chr2 176984544 176984544 1 + C T rs72923454 176984546 + 176984526 176984566 41 GGTGAGATGGGATATTGGCGATTTATGCCTTGTAGCCTTTC GGTGAGATGGGATATTGGTGATTTATGCCTTGTAGCCTTTC < 41bp 0.823019136396723 0.568948270771248 0.23621804 0.10669315 prediction 0.508141731250949 Functional Loss - HOXD10 ENSG00000128710 UTR3 Human protein_coding chr2:176984546 chr2:176984544 . . 0 19 hm1A_associated_SNPs_6674 1 Likely benign Vertical talus, congenital RCV000374208.1
1269 chr7 94055755 94055755 1 + C T rs62001059 94055757 + 94055737 94055777 41 CCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAA CCCACAAGGCATTCGTGGTGATAAGGGAGAGCCCGGTGAAA < 41bp 0.778166355918086 0.524157462274654 0.27420542 0.18471375 prediction 0.508017787286864 Functional Loss - COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94055757 chr7:94055755 synonymous SNV . 0 19 hm1A_associated_SNPs_6681 3 Likely benign Osteogenesis imperfecta RCV000029601.1
1269 chr7 94055755 94055755 1 + C T rs62001059 94055757 + 94055737 94055777 41 CCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAA CCCACAAGGCATTCGTGGTGATAAGGGAGAGCCCGGTGAAA < 41bp 0.778166355918086 0.524157462274654 0.27420542 0.18471375 prediction 0.508017787286864 Functional Loss - COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94055757 chr7:94055755 synonymous SNV . 0 19 hm1A_associated_SNPs_6681 3 Likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient RCV000274679.1
1269 chr7 94055755 94055755 1 + C T rs62001059 94055757 + 94055737 94055777 41 CCCACAAGGCATTCGTGGCGATAAGGGAGAGCCCGGTGAAA CCCACAAGGCATTCGTGGTGATAAGGGAGAGCCCGGTGAAA < 41bp 0.778166355918086 0.524157462274654 0.27420542 0.18471375 prediction 0.508017787286864 Functional Loss - COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94055757 chr7:94055755 synonymous SNV . 0 19 hm1A_associated_SNPs_6681 3 Likely benign Osteogenesis Imperfecta, Dominant RCV000329838.1
1269 chr7 94057007 94057007 1 + C T rs34691365 94057009 + 94056989 94057029 41 TGGTTATGACTTTGGTTACGATGGAGACTTCTACAGGGCTG TGGTTATGACTTTGGTTATGATGGAGACTTCTACAGGGCTG < 41bp 0.753976043099345 0.463408271535928 0.6269754 0.29611742 prediction 0.50795208619869 Functional Loss - COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057009 chr7:94057007 synonymous SNV . 0 19 hm1A_associated_SNPs_6684 3 Likely benign Osteogenesis imperfecta RCV000029604.1
1269 chr7 94057007 94057007 1 + C T rs34691365 94057009 + 94056989 94057029 41 TGGTTATGACTTTGGTTACGATGGAGACTTCTACAGGGCTG TGGTTATGACTTTGGTTATGATGGAGACTTCTACAGGGCTG < 41bp 0.753976043099345 0.463408271535928 0.6269754 0.29611742 prediction 0.50795208619869 Functional Loss - COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057009 chr7:94057007 synonymous SNV . 0 19 hm1A_associated_SNPs_6684 3 Likely benign Osteogenesis Imperfecta, Dominant RCV000302545.1
1269 chr7 94057007 94057007 1 + C T rs34691365 94057009 + 94056989 94057029 41 TGGTTATGACTTTGGTTACGATGGAGACTTCTACAGGGCTG TGGTTATGACTTTGGTTATGATGGAGACTTCTACAGGGCTG < 41bp 0.753976043099345 0.463408271535928 0.6269754 0.29611742 prediction 0.50795208619869 Functional Loss - COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057009 chr7:94057007 synonymous SNV . 0 19 hm1A_associated_SNPs_6684 3 Likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient RCV000402770.1
1269 chr21 35743094 35743094 1 + C T UCEC 35743096 + 35743076 35743116 41 TCTTGAATCTAGAAGAATCGAAGGCCACCATCCATGAGAAC TCTTGAATCTAGAAGAATTGAAGGCCACCATCCATGAGAAC < 41bp 0.819818096864787 0.566539680476203 0.505778 0.35596964 prediction 0.506556832777169 Functional Loss - KCNE2 ENSG00000159197 CDS Human protein_coding chr21:35743096 chr21:35743094 nonsynonymous SNV 0.947 1 19 hm1A_associated_SNPs_6748 2 Uncertain significance not specified RCV000439315.1
1269 chr21 35743094 35743094 1 + C T UCEC 35743096 + 35743076 35743116 41 TCTTGAATCTAGAAGAATCGAAGGCCACCATCCATGAGAAC TCTTGAATCTAGAAGAATTGAAGGCCACCATCCATGAGAAC < 41bp 0.819818096864787 0.566539680476203 0.505778 0.35596964 prediction 0.506556832777169 Functional Loss - KCNE2 ENSG00000159197 CDS Human protein_coding chr21:35743096 chr21:35743094 nonsynonymous SNV 0.947 1 19 hm1A_associated_SNPs_6748 2 Uncertain significance Long QT syndrome 6 RCV000460748.1
1269 chr10 23482734 23482734 1 + C T UCEC 23482736 + 23482716 23482756 41 AAGGAACAAAATATTATCCGAACAGCCAAAGTCTGGACCCC AAGGAACAAAATATTATCTGAACAGCCAAAGTCTGGACCCC < 41bp 0.797439550913184 0.544534964999696 0.39872503 0.18762192 prediction 0.505809171826975 Functional Loss - PTF1A ENSG00000168267 CDS Human protein_coding chr10:23482736 chr10:23482734 stopgain 1.000 1 19 hm1A_associated_SNPs_6786 1 Pathogenic Diabetes mellitus, permanent neonatal, with cerebellar agenesis RCV000003594.2
1269 chr5 140076569 140076569 1 + C T rs73273316 140076571 + 140076551 140076591 41 ATGTTTCAGGATCCCAGACTATCCCAGAACAAGCAGGCCCT ATGTTTCAGGATCCCAGATTATCCCAGAACAAGCAGGCCCT < 41bp 0.815128369812489 0.563078228796888 0.13438877 0.1155822 prediction 0.504100282031203 Functional Loss - HARS2 ENSG00000112855 CDS Human protein_coding chr5:140076571 chr5:140076569 synonymous SNV . 0 19 hm1A_associated_SNPs_6869 1 Benign not specified RCV000198400.2
1269 chr10 43612094 43612094 1 + C T BLCA 43612096 + 43612076 43612116 41 AAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGG AAAAACTCTAGGAGAAGGTGAATTTGGAAAAGTGGTCAAGG < 41bp 0.811004296933217 0.559067145152039 0.29269224 0.13477483 prediction 0.503874303562355 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43612096 chr10:43612094 synonymous SNV . 0 19 hm1A_associated_SNPs_6883 1 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000123308.1
1269 chr16 23203690 23203690 1 + C T rs5739 23203692 + 23203672 23203712 41 GTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCA GTGCTCAAATGACACCTCTGACTGTGCCACCTACACCTTCA < 41bp 0.769493600742233 0.517790428365972 0.21092522 0.10841951 prediction 0.503406344752521 Functional Loss - SCNN1G ENSG00000166828 CDS Human protein_coding chr16:23203692 chr16:23203690 synonymous SNV . 0 19 hm1A_associated_SNPs_6905 3 Benign not specified RCV000155573.1
1269 chr16 23203690 23203690 1 + C T rs5739 23203692 + 23203672 23203712 41 GTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCA GTGCTCAAATGACACCTCTGACTGTGCCACCTACACCTTCA < 41bp 0.769493600742233 0.517790428365972 0.21092522 0.10841951 prediction 0.503406344752521 Functional Loss - SCNN1G ENSG00000166828 CDS Human protein_coding chr16:23203692 chr16:23203690 synonymous SNV . 0 19 hm1A_associated_SNPs_6905 3 Likely benign Pseudohypoaldosteronism, Type I, Recessive RCV000280259.1
1269 chr16 23203690 23203690 1 + C T rs5739 23203692 + 23203672 23203712 41 GTGCTCAAATGACACCTCCGACTGTGCCACCTACACCTTCA GTGCTCAAATGACACCTCTGACTGTGCCACCTACACCTTCA < 41bp 0.769493600742233 0.517790428365972 0.21092522 0.10841951 prediction 0.503406344752521 Functional Loss - SCNN1G ENSG00000166828 CDS Human protein_coding chr16:23203692 chr16:23203690 synonymous SNV . 0 19 hm1A_associated_SNPs_6905 3 Likely benign Pseudoprimary hyperaldosteronism RCV000335344.1
1269 chr3 158363475 158363475 1 + C T HNSC 158363477 + 158363457 158363497 41 ATTCCTAATGAAAAAATACGAAATATTGGAATCTCAGCTCA ATTCCTAATGAAAAAATATGAAATATTGGAATCTCAGCTCA < 41bp 0.753511023863029 0.502935407790095 0.046777368 0.019604921 prediction 0.501151232145868 Functional Loss - GFM1 ENSG00000168827 CDS Human protein_coding chr3:158363477 chr3:158363475 stopgain 0.998 1 19 hm1A_associated_SNPs_7026 1 Pathogenic Combined oxidative phosphorylation deficiency 1 RCV000004378.4
1269 chr11 71907035 71907035 1 + C T SKCM 71907037 + 71907017 71907057 41 TGAAATCTGGACTCACTCCTACAAGGTCAGCAACTACAGCC TGAAATCTGGACTCACTCTTACAAGGTCAGCAACTACAGCC < 41bp 0.821441447923459 0.571201029718751 0.123593956 0.10803789 prediction 0.500480836409416 Functional Loss - FOLR1 ENSG00000110195 CDS Human protein_coding chr11:71907037 chr11:71907035 synonymous SNV . 0 19 hm1A_associated_SNPs_7064 2 Uncertain significance Cerebral folate deficiency RCV000367953.1
1269 chr11 71907035 71907035 1 + C T SKCM 71907037 + 71907017 71907057 41 TGAAATCTGGACTCACTCCTACAAGGTCAGCAACTACAGCC TGAAATCTGGACTCACTCTTACAAGGTCAGCAACTACAGCC < 41bp 0.821441447923459 0.571201029718751 0.123593956 0.10803789 prediction 0.500480836409416 Functional Loss - FOLR1 ENSG00000110195 CDS Human protein_coding chr11:71907037 chr11:71907035 synonymous SNV . 0 19 hm1A_associated_SNPs_7064 2 Likely benign not specified RCV000442324.1
1269 chr2 233075081 233075081 1 + C T rs17272089 233075083 + 233075063 233075103 41 ATCAACCGCCCGAGACCTCGATGATGCCCTCTCCTGCAAGC ATCAACCGCCCGAGACCTTGATGATGCCCTCTCCTGCAAGC < 41bp 0.750140480242516 0.474089222810208 0.8380914 0.57771784 prediction 0.500280960485031 Functional Loss - DIS3L2 ENSG00000144535 CDS Human protein_coding chr2:233075083 chr2:233075081 synonymous SNV . 0 19 hm1A_associated_SNPs_7075 1 other Renal hamartomas nephroblastomatosis and fetal gigantism RCV000331495.1
1269 chr15 40705225 40705225 1 + C T rs2229312 40705227 + 40705207 40705247 41 CACCTCTAAGAAGCTGGACAAGCTGGGGATGAGGGGCTCTA CACCTCTAAGAAGCTGGATAAGCTGGGGATGAGGGGCTCTA < 41bp 0.771230067639711 0.521360141481349 0.109482795 0.10469809 prediction 0.499739852316725 Functional Loss - IVD ENSG00000128928 CDS Human protein_coding chr15:40705227 chr15:40705225 synonymous SNV . 0 19 hm1A_associated_SNPs_7108 2 Benign not specified RCV000080001.5
1269 chr15 40705225 40705225 1 + C T rs2229312 40705227 + 40705207 40705247 41 CACCTCTAAGAAGCTGGACAAGCTGGGGATGAGGGGCTCTA CACCTCTAAGAAGCTGGATAAGCTGGGGATGAGGGGCTCTA < 41bp 0.771230067639711 0.521360141481349 0.109482795 0.10469809 prediction 0.499739852316725 Functional Loss - IVD ENSG00000128928 CDS Human protein_coding chr15:40705227 chr15:40705225 synonymous SNV . 0 19 hm1A_associated_SNPs_7108 2 Likely benign Isovaleryl-CoA dehydrogenase deficiency RCV000315524.1
1269 chrX 37660572 37660572 1 + C T COAD 37660574 + 37660554 37660594 41 AGGTTGGTGCGGTTTTGGCGATCTCAACAGAAGGTGGTCAT AGGTTGGTGCGGTTTTGGTGATCTCAACAGAAGGTGGTCAT < 41bp 0.828192278526826 0.578389068493939 0.16403204 0.07637775 prediction 0.499606420065774 Functional Loss - CYBB ENSG00000165168 CDS Human protein_coding chrX:37660574 chrX:37660572 stopgain 1.000 1 19 hm1A_associated_SNPs_7116 1 Pathogenic not provided RCV000255940.2
1269 chr11 126277216 126277216 1 + C T rs2230278 126277218 + 126277198 126277238 41 CAAGACGCCATCTGCTTACGAGCTGCCCTATGGGACCAAGG CAAGACGCCATCTGCTTATGAGCTGCCCTATGGGACCAAGG < 41bp 0.766613266654621 0.517312168686382 0.41412908 0.2565119 prediction 0.498602195936477 Functional Loss - ST3GAL4 ENSG00000110080 CDS Human protein_coding chr11:126277218 chr11:126277216 synonymous SNV . 0 19 hm1A_associated_SNPs_7172 1 Benign not specified RCV000252516.1
1269 chr5 86672329 86672329 1 + C T CESC 86672331 + 86672311 86672351 41 TCCCTGCGTGTTCGAGCACGATACTCTATGGAAAAAATCAT TCCCTGCGTGTTCGAGCATGATACTCTATGGAAAAAATCAT < 41bp 0.748754328519518 0.455276970255671 0.4006275 0.16428244 prediction 0.497508657039035 Functional Loss - RASA1 ENSG00000145715 CDS Human protein_coding chr5:86672331 chr5:86672329 stopgain 1.000 1 19 hm1A_associated_SNPs_7242 1 Pathogenic not provided RCV000196439.2
1269 chr4 184585162 184585162 1 + C T CESC 184585164 + 184585144 184585184 41 GCAAATCGGAGAGCTGATCGAGTACCAATTTCTTTCAAGGT GCAAATCGGAGAGCTGATTGAGTACCAATTTCTTTCAAGGT < 41bp 0.775803269908503 0.527078246174142 0.6275609 0.19264099 prediction 0.497450047468723 Functional Loss - TRAPPC11 ENSG00000168538 CDS Human protein_coding chr4:184585164 chr4:184585162 stopgain 0.998 1 19 hm1A_associated_SNPs_7244 1 Pathogenic Limb-girdle muscular dystrophy, type 2S RCV000416446.1
1269 chr20 45355544 45355544 1 + C T KICH 45355546 + 45355526 45355566 41 ATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTG ATCTACCCTGTGGAGATATGAGGAAGAGCCTTCGCCTTCTG < 41bp 0.791322792550083 0.542657126350885 0.5181321 0.48810515 prediction 0.497331332398396 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45355546 chr20:45355544 stopgain 0.990 1 19 hm1A_associated_SNPs_7251 2 Pathogenic Arterial tortuosity syndrome RCV000202558.1
1269 chr20 45355544 45355544 1 + C T KICH 45355546 + 45355526 45355566 41 ATCTACCCTGTGGAGATACGAGGAAGAGCCTTCGCCTTCTG ATCTACCCTGTGGAGATATGAGGAAGAGCCTTCGCCTTCTG < 41bp 0.791322792550083 0.542657126350885 0.5181321 0.48810515 prediction 0.497331332398396 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45355546 chr20:45355544 stopgain 0.990 1 19 hm1A_associated_SNPs_7251 2 Likely pathogenic not provided RCV000492992.1
1269 chrX 37642818 37642818 1 + C T CESC 37642820 + 37642800 37642840 41 ATTCTCTTGCCAGTCTGTCGAAATCTGCTGTCCTTCCTCAG ATTCTCTTGCCAGTCTGTTGAAATCTGCTGTCCTTCCTCAG < 41bp 0.804352376942758 0.555722959496722 0.16190308 0.1072028 prediction 0.497258834892071 Functional Loss - CYBB ENSG00000165168 CDS Human protein_coding chrX:37642820 chrX:37642818 stopgain 1.000 1 19 hm1A_associated_SNPs_7259 2 Pathogenic Chronic granulomatous disease, X-linked RCV000011670.6
1269 chrX 37642818 37642818 1 + C T CESC 37642820 + 37642800 37642840 41 ATTCTCTTGCCAGTCTGTCGAAATCTGCTGTCCTTCCTCAG ATTCTCTTGCCAGTCTGTTGAAATCTGCTGTCCTTCCTCAG < 41bp 0.804352376942758 0.555722959496722 0.16190308 0.1072028 prediction 0.497258834892071 Functional Loss - CYBB ENSG00000165168 CDS Human protein_coding chrX:37642820 chrX:37642818 stopgain 1.000 1 19 hm1A_associated_SNPs_7259 2 Pathogenic not provided RCV000254770.1
1269 chr15 63353950 63353950 1 + C T UCEC 63353952 + 63353932 63353972 41 AAGAATTGAAAACTGTGACGAACAACTTGAAGTCACTGGAG AAGAATTGAAAACTGTGATGAACAACTTGAAGTCACTGGAG < 41bp 0.748381266460599 0.495710561593279 0.32718623 0.26857445 prediction 0.496762532921198 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63353952 chr15:63353950 nonsynonymous SNV 1.000 3 19 hm1A_associated_SNPs_7287 1 Uncertain significance not specified RCV000159374.2
1269 chr4 56230312 56230312 1 + G A BLCA 56230310 - 56230290 56230330 41 CACTGACGTAGAGGCACTCGAAGAGTCTTCGTAAGCTGTGC CACTGACGTAGAGGCACTTGAAGAGTCTTCGTAAGCTGTGC < 41bp 0.798136900544103 0.550087649186762 0.37973186 0.21525165 prediction 0.496098502714683 Functional Loss - SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56230310 chr4:56230312 nonsynonymous SNV 0.656 4 19 hm1A_associated_SNPs_7327 1 Likely pathogenic not provided RCV000482809.1
1269 chr3 30729968 30729968 1 + C T CESC 30729970 + 30729950 30729990 41 GTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAGCTTCTG GTGTTGAGAGATCGAGGGTGACCAGAAATTCCCAGCTTCTG < 41bp 0.748024216748097 0.498655823601378 0.29275298 0.2412245 prediction 0.496048433496195 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729970 chr3:30729968 stopgain 0.967 1 19 hm1A_associated_SNPs_7329 3 Uncertain significance not specified RCV000199072.1
1269 chr3 30729968 30729968 1 + C T CESC 30729970 + 30729950 30729990 41 GTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAGCTTCTG GTGTTGAGAGATCGAGGGTGACCAGAAATTCCCAGCTTCTG < 41bp 0.748024216748097 0.498655823601378 0.29275298 0.2412245 prediction 0.496048433496195 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729970 chr3:30729968 stopgain 0.967 1 19 hm1A_associated_SNPs_7329 3 Pathogenic Thoracic aortic aneurysm and aortic dissection RCV000244033.1
1269 chr3 30729968 30729968 1 + C T CESC 30729970 + 30729950 30729990 41 GTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAGCTTCTG GTGTTGAGAGATCGAGGGTGACCAGAAATTCCCAGCTTCTG < 41bp 0.748024216748097 0.498655823601378 0.29275298 0.2412245 prediction 0.496048433496195 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729970 chr3:30729968 stopgain 0.967 1 19 hm1A_associated_SNPs_7329 3 Pathogenic Loeys-Dietz syndrome 2 RCV000490801.1
1269 chr17 3560020 3560020 1 + C T rs200170842 3560022 + 3560002 3560042 41 GAACCCCGTGAACAGCAACGACGTCTTCTTCAGCCTGCACG GAACCCCGTGAACAGCAATGACGTCTTCTTCAGCCTGCACG < 41bp 0.792883513338068 0.544882499259543 0.33183634 0.21789038 prediction 0.49600202815705 Functional Loss - CTNS ENSG00000040531 CDS Human protein_coding chr17:3560022 chr17:3560020 synonymous SNV . 0 19 hm1A_associated_SNPs_7332 1 Uncertain significance not specified RCV000180610.1
1269 chr17 68171552 68171552 1 + C T rs138877244 68171554 + 68171534 68171574 41 GGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTG GGGCAAAGCTTGTGTGTCTGAGGTCAACAGCTTCACGGCTG < 41bp 0.805558110685187 0.558332895187605 0.25888735 0.15742022 prediction 0.494450430995165 Functional Loss - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171554 chr17:68171552 synonymous SNV . 0 19 hm1A_associated_SNPs_7440 3 Benign not specified RCV000126415.3
1269 chr17 68171552 68171552 1 + C T rs138877244 68171554 + 68171534 68171574 41 GGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTG GGGCAAAGCTTGTGTGTCTGAGGTCAACAGCTTCACGGCTG < 41bp 0.805558110685187 0.558332895187605 0.25888735 0.15742022 prediction 0.494450430995165 Functional Loss - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171554 chr17:68171552 synonymous SNV . 0 19 hm1A_associated_SNPs_7440 3 Benign Andersen Tawil syndrome RCV000463819.1
1269 chr17 68171552 68171552 1 + C T rs138877244 68171554 + 68171534 68171574 41 GGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTG GGGCAAAGCTTGTGTGTCTGAGGTCAACAGCTTCACGGCTG < 41bp 0.805558110685187 0.558332895187605 0.25888735 0.15742022 prediction 0.494450430995165 Functional Loss - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171554 chr17:68171552 synonymous SNV . 0 19 hm1A_associated_SNPs_7440 3 Benign Short QT syndrome 3 RCV000463819.1
1269 chr1 236918491 236918491 1 + C T UCEC 236918493 + 236918473 236918513 41 ACAAGCACACGAACTACACGATGGAGGTACGGCAGCCAGAC ACAAGCACACGAACTACATGATGGAGGTACGGCAGCCAGAC < 41bp 0.788803920921693 0.541928226090652 0.3981989 0.2283136 prediction 0.493751389662081 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918493 chr1:236918491 nonsynonymous SNV 0.993 3 19 hm1A_associated_SNPs_7495 6 Uncertain significance Cardiomyopathy RCV000029298.3
1269 chr1 236918491 236918491 1 + C T UCEC 236918493 + 236918473 236918513 41 ACAAGCACACGAACTACACGATGGAGGTACGGCAGCCAGAC ACAAGCACACGAACTACATGATGGAGGTACGGCAGCCAGAC < 41bp 0.788803920921693 0.541928226090652 0.3981989 0.2283136 prediction 0.493751389662081 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918493 chr1:236918491 nonsynonymous SNV 0.993 3 19 hm1A_associated_SNPs_7495 6 Uncertain significance not specified RCV000036896.3
1269 chr1 236918491 236918491 1 + C T UCEC 236918493 + 236918473 236918513 41 ACAAGCACACGAACTACACGATGGAGGTACGGCAGCCAGAC ACAAGCACACGAACTACATGATGGAGGTACGGCAGCCAGAC < 41bp 0.788803920921693 0.541928226090652 0.3981989 0.2283136 prediction 0.493751389662081 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918493 chr1:236918491 nonsynonymous SNV 0.993 3 19 hm1A_associated_SNPs_7495 6 Uncertain significance Familial hypertrophic cardiomyopathy 1 RCV000172894.1
1269 chr1 236918491 236918491 1 + C T UCEC 236918493 + 236918473 236918513 41 ACAAGCACACGAACTACACGATGGAGGTACGGCAGCCAGAC ACAAGCACACGAACTACATGATGGAGGTACGGCAGCCAGAC < 41bp 0.788803920921693 0.541928226090652 0.3981989 0.2283136 prediction 0.493751389662081 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918493 chr1:236918491 nonsynonymous SNV 0.993 3 19 hm1A_associated_SNPs_7495 6 Uncertain significance Dilated cardiomyopathy 1AA RCV000228927.1
1269 chr1 236918491 236918491 1 + C T UCEC 236918493 + 236918473 236918513 41 ACAAGCACACGAACTACACGATGGAGGTACGGCAGCCAGAC ACAAGCACACGAACTACATGATGGAGGTACGGCAGCCAGAC < 41bp 0.788803920921693 0.541928226090652 0.3981989 0.2283136 prediction 0.493751389662081 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918493 chr1:236918491 nonsynonymous SNV 0.993 3 19 hm1A_associated_SNPs_7495 6 Uncertain significance Primary familial hypertrophic cardiomyopathy RCV000228927.1
1269 chr1 236918491 236918491 1 + C T UCEC 236918493 + 236918473 236918513 41 ACAAGCACACGAACTACACGATGGAGGTACGGCAGCCAGAC ACAAGCACACGAACTACATGATGGAGGTACGGCAGCCAGAC < 41bp 0.788803920921693 0.541928226090652 0.3981989 0.2283136 prediction 0.493751389662081 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918493 chr1:236918491 nonsynonymous SNV 0.993 3 19 hm1A_associated_SNPs_7495 6 Uncertain significance Cardiovascular phenotype RCV000251944.1
1269 chr11 36596185 36596185 1 + C T LUSC 36596187 + 36596167 36596207 41 TCCTGCTGGCTCTGAGGGCGAGGAATGAGCACAGGCAAGCT TCCTGCTGGCTCTGAGGGTGAGGAATGAGCACAGGCAAGCT < 41bp 0.789692714222764 0.543215983531329 0.2603702 0.23245555 prediction 0.492953461382871 Functional Loss - RAG1 ENSG00000166349 CDS Human protein_coding chr11:36596187 chr11:36596185 nonsynonymous SNV 0.826 4 19 hm1A_associated_SNPs_7555 1 not provided not provided RCV000059562.1
1269 chr6 52318995 52318995 1 + C T HNSC 52318997 + 52318977 52319017 41 GATGATACGGTGGAAATTCGAGAGGTCCACGAACGGAATGA GATGATACGGTGGAAATTTGAGAGGTCCACGAACGGAATGA < 41bp 0.774118634603901 0.528216018354775 0.22710419 0.19556403 prediction 0.491805232498253 Functional Loss - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52318997 chr6:52318995 stopgain 0.997 0 19 hm1A_associated_SNPs_7625 1 Pathogenic Myoclonic epilepsy, juvenile 1 RCV000195077.1
1269 chr1 150482172 150482172 1 + C T STAD 150482174 + 150482154 150482194 41 CCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCACCC CCCTCCCCACCCCTATCCTGAAGCCTCCCCATGGATCACCC < 41bp 0.745748360028474 0.492294845913398 0.58331 0.4085906 prediction 0.491496720056948 Functional Loss - ECM1 ENSG00000143369 CDS Human protein_coding chr1:150482174 chr1:150482172 stopgain 0.007 0 19 hm1A_associated_SNPs_7649 1 Pathogenic Lipid proteinosis RCV000007901.2
1269 chr9 130984809 130984809 1 + C T rs35048348 130984811 + 130984791 130984831 41 AGATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCA AGATCAGATCGACACCTATGAACTGTCAGGGGGAGCCCGCA < 41bp 0.801223698721722 0.555957175172012 0.4951046 0.48813096 prediction 0.49053304709942 Functional Loss - DNM1 ENSG00000106976 CDS Human protein_coding chr9:130984811 chr9:130984809 nonsynonymous SNV . 0 19 hm1A_associated_SNPs_7714 1 Benign not specified RCV000433577.1
1269 chr2 99013379 99013379 1 + C T rs77311157 99013381 + 99013361 99013401 41 GTTCTGCCTCTCAAAGGACGATCTCATGGAGGCCCTCACCG GTTCTGCCTCTCAAAGGATGATCTCATGGAGGCCCTCACCG < 41bp 0.851297286393548 0.606673351085033 0.6634145 0.50400996 prediction 0.489247870617029 Functional Loss - CNGA3 ENSG00000144191 CDS Human protein_coding chr2:99013381 chr2:99013379 synonymous SNV . 0 19 hm1A_associated_SNPs_7823 1 Uncertain significance Achromatopsia RCV000278277.1
1269 chr3 158369895 158369895 1 + C T UCEC 158369897 + 158369877 158369917 41 TTTCTTAGTCAGATTGTTCGATATGGTGAGATTCCAGCTGA TTTCTTAGTCAGATTGTTTGATATGGTGAGATTCCAGCTGA < 41bp 0.806800162910651 0.562313831040528 0.21996984 0.09414363 prediction 0.488972663740247 Functional Loss - GFM1 ENSG00000168827 CDS Human protein_coding chr3:158369897 chr3:158369895 stopgain 0.920 1 19 hm1A_associated_SNPs_7848 1 Pathogenic not provided RCV000198570.1
1269 chr20 45362452 45362452 1 + C T UCEC 45362454 + 45362434 45362474 41 CATCCCGTACAGCCGCATCGAGATCTCTGCGGCCTCCTGAG CATCCCGTACAGCCGCATTGAGATCTCTGCGGCCTCCTGAG < 41bp 0.803762360716337 0.560071801649258 0.5928291 0.38560283 prediction 0.487381118134157 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45362454 chr20:45362452 synonymous SNV . 0 19 hm1A_associated_SNPs_7959 1 Likely benign Arterial tortuosity syndrome RCV000462576.1
1269 chr12 57958726 57958726 1 + C T HNSC 57958728 + 57958708 57958748 41 GACAAATCTGTCCGTGCACGAGGACAAGAACCGGGTGCCAT GACAAATCTGTCCGTGCATGAGGACAAGAACCGGGTGCCAT < 41bp 0.74367710449013 0.485752737050631 0.4007029 0.3651112 prediction 0.48735420898026 Functional Loss - KIF5A ENSG00000155980 CDS Human protein_coding chr12:57958728 chr12:57958726 synonymous SNV . 0 19 hm1A_associated_SNPs_7960 1 Uncertain significance Spastic Paraplegia, Dominant RCV000390969.1
1269 chr10 88485931 88485931 1 + C T rs45578640 88485933 + 88485913 88485953 41 CACCAAGTGCCATGGCTGCGATTTCCCCGTGGAGGCTGGCG CACCAAGTGCCATGGCTGTGATTTCCCCGTGGAGGCTGGCG < 41bp 0.832492254833351 0.589047023798867 0.72725683 0.31512153 prediction 0.486890462068968 Functional Loss - LDB3 ENSG00000122367 CDS Human protein_coding chr10:88485933 chr10:88485931 synonymous SNV . 0 19 hm1A_associated_SNPs_7991 2 other not specified RCV000038748.4
1269 chr10 88485931 88485931 1 + C T rs45578640 88485933 + 88485913 88485953 41 CACCAAGTGCCATGGCTGCGATTTCCCCGTGGAGGCTGGCG CACCAAGTGCCATGGCTGTGATTTCCCCGTGGAGGCTGGCG < 41bp 0.832492254833351 0.589047023798867 0.72725683 0.31512153 prediction 0.486890462068968 Functional Loss - LDB3 ENSG00000122367 CDS Human protein_coding chr10:88485933 chr10:88485931 synonymous SNV . 0 19 hm1A_associated_SNPs_7991 2 Benign Myofibrillar myopathy, ZASP-related RCV000227115.1
1269 chr12 52056721 52056721 1 + C T rs145881860 52056723 + 52056703 52056743 41 CAAGAAACCACCAAAGGCCGATGGCAGTCATCGGGAGGACG CAAGAAACCACCAAAGGCTGATGGCAGTCATCGGGAGGACG < 41bp 0.742162869422265 0.474757034884979 0.7571663 0.57832396 prediction 0.484325738844529 Functional Loss - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52056723 chr12:52056721 synonymous SNV . 0 19 hm1A_associated_SNPs_8175 1 Likely benign not specified RCV000438179.1
1269 chr4 88584148 88584148 1 + C T rs2615498 88584150 + 88584130 88584170 41 AGAGGAGCAAGCAGACAGCGAATCCAGTGAGAGCCTCAACT AGAGGAGCAAGCAGACAGTGAATCCAGTGAGAGCCTCAACT < 41bp 0.74195253698448 0.488047646128771 0.3656639 0.3094871 prediction 0.48390507396896 Functional Loss - DMP1 ENSG00000152592 CDS Human protein_coding chr4:88584150 chr4:88584148 synonymous SNV . 0 19 hm1A_associated_SNPs_8209 1 Benign Hypophosphatemic Rickets, Recessive RCV000266071.1
1269 chr2 220286196 220286196 1 + C T UCEC 220286198 + 220286178 220286218 41 GATGGCCCGCCATCTGCGCGAGTACCAGGACCTGCTCAACG GATGGCCCGCCATCTGCGTGAGTACCAGGACCTGCTCAACG < 41bp 0.803776770474909 0.562533194681657 0.23667881 0.20163217 prediction 0.482487151586504 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286198 chr2:220286196 synonymous SNV . 0 19 hm1A_associated_SNPs_8314 1 Uncertain significance not specified RCV000290385.1
1269 chr9 130265163 130265163 1 + C T rs34768188 130265165 + 130265145 130265185 41 CGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGC CGCCCAGCGCCTCCGCATTTACCACAGCAGCTGAGTGCTGC < 41bp 0.819016703560942 0.577904916364128 0.3789606 0.33755088 prediction 0.482223574393628 Functional Loss - LRSAM1 ENSG00000148356 CDS Human protein_coding chr9:130265165 chr9:130265163 synonymous SNV . 0 19 hm1A_associated_SNPs_8336 2 Benign not specified RCV000424473.1
1269 chr9 130265163 130265163 1 + C T rs34768188 130265165 + 130265145 130265185 41 CGCCCAGCGCCTCCGCATCTACCACAGCAGCTGAGTGCTGC CGCCCAGCGCCTCCGCATTTACCACAGCAGCTGAGTGCTGC < 41bp 0.819016703560942 0.577904916364128 0.3789606 0.33755088 prediction 0.482223574393628 Functional Loss - LRSAM1 ENSG00000148356 CDS Human protein_coding chr9:130265165 chr9:130265163 synonymous SNV . 0 19 hm1A_associated_SNPs_8336 2 Benign Charcot-Marie-Tooth disease type 2P RCV000458933.1
1269 chr22 20030915 20030915 1 + C T COAD 20030917 + 20030897 20030937 41 AGGGATGAATTCTACAGCCGACCCTCCAAGTTAGCTGACTT AGGGATGAATTCTACAGCTGACCCTCCAAGTTAGCTGACTT < 41bp 0.781600210662159 0.540522480836965 0.22772202 0.16711757 prediction 0.482155459650388 Functional Loss - TANGO2 ENSG00000183597 CDS Human protein_coding chr22:20030917 chr22:20030915 stopgain 0.458 1 19 hm1A_associated_SNPs_8341 1 Pathogenic not provided RCV000435649.1
1269 chr7 31018852 31018852 1 + T C rs2228078 31018851 + 31018831 31018871 41 CGGCAAAGGTGCTGACATCTATGTGCTAGGCTGCCTCATCA CGGCAAAGGTGCTGACATCTACGTGCTAGGCTGCCTCATCA < 41bp 0.784394393396202 0.543821679283247 0.3483678 0.4771979 prediction 0.481145428225909 Functional Loss - GHRHR ENSG00000106128 CDS Human protein_coding chr7:31018851 chr7:31018852 nonsynonymous SNV 0.654 0 22 hm1A_associated_SNPs_8418 1 Likely benign Isolated Growth Hormone Deficiency RCV000302610.1
1269 chr7 66103980 66103980 1 + C T UCEC 66103982 + 66103962 66104002 41 CCGCTCCTCAACTCCCTGCGATTTGAGCGGAGTGAGAGTGA CCGCTCCTCAACTCCCTGTGATTTGAGCGGAGTGAGAGTGA < 41bp 0.868662236754402 0.628921046854466 0.4533689 0.18797052 prediction 0.479482379799871 Functional Loss - KCTD7 ENSG00000243335 CDS Human protein_coding chr7:66103982 chr7:66103980 stopgain 0.970 0 19 hm1A_associated_SNPs_8549 1 Pathogenic not provided RCV000426305.1
1269 chr12 52056742 52056742 1 + C T rs149013279 52056744 + 52056724 52056764 41 TGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGC TGGCAGTCATCGGGAGGATGATGAGGACAGCAAGCCCAAGC < 41bp 0.739685890811748 0.477347982255437 0.6432803 0.5243479 prediction 0.479371781623496 Functional Loss - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52056744 chr12:52056742 synonymous SNV . 0 19 hm1A_associated_SNPs_8557 3 Benign not specified RCV000175856.2
1269 chr12 52056742 52056742 1 + C T rs149013279 52056744 + 52056724 52056764 41 TGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGC TGGCAGTCATCGGGAGGATGATGAGGACAGCAAGCCCAAGC < 41bp 0.739685890811748 0.477347982255437 0.6432803 0.5243479 prediction 0.479371781623496 Functional Loss - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52056744 chr12:52056742 synonymous SNV . 0 19 hm1A_associated_SNPs_8557 3 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000384601.1
1269 chr12 52056742 52056742 1 + C T rs149013279 52056744 + 52056724 52056764 41 TGGCAGTCATCGGGAGGACGATGAGGACAGCAAGCCCAAGC TGGCAGTCATCGGGAGGATGATGAGGACAGCAAGCCCAAGC < 41bp 0.739685890811748 0.477347982255437 0.6432803 0.5243479 prediction 0.479371781623496 Functional Loss - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52056744 chr12:52056742 synonymous SNV . 0 19 hm1A_associated_SNPs_8557 3 Benign Early infantile epileptic encephalopathy RCV000463116.1
1269 chr19 50910248 50910248 1 + C T rs371647100 50910250 + 50910230 50910270 41 CCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGG CCATCCCCAGAATGGGAATGACCAGACCCGCCGCCGCCTGG < 41bp 0.744127965625144 0.504863036704542 0.23318893 0.1402283 prediction 0.478529857841205 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910250 chr19:50910248 synonymous SNV . 0 19 hm1A_associated_SNPs_8640 2 Benign Colorectal cancer 10 RCV000229903.2
1269 chr19 50910248 50910248 1 + C T rs371647100 50910250 + 50910230 50910270 41 CCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCCTGG CCATCCCCAGAATGGGAATGACCAGACCCGCCGCCGCCTGG < 41bp 0.744127965625144 0.504863036704542 0.23318893 0.1402283 prediction 0.478529857841205 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910250 chr19:50910248 synonymous SNV . 0 19 hm1A_associated_SNPs_8640 2 Likely benign not specified RCV000420407.1
1269 chrX 48546784 48546784 1 + C T UCEC 48546786 + 48546766 48546806 41 GACCTCTAAACTTATCTACGACTTCATTGAGGACCAGGGTG GACCTCTAAACTTATCTATGACTTCATTGAGGACCAGGGTG < 41bp 0.798263145938871 0.559721424880359 0.3754349 0.3311243 prediction 0.477083442117022 Functional Loss - WAS ENSG00000015285 CDS Human protein_coding chrX:48546786 chrX:48546784 synonymous SNV . 0 19 hm1A_associated_SNPs_8753 1 Likely benign not specified RCV000249500.1
1269 chr15 42695111 42695111 1 + C T LUAD 42695113 + 42695093 42695133 41 CTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCCCTCCA CTTCCGCCTGCCTCCCAGTGAGTACGTCATCGTGCCCTCCA < 41bp 0.738262407478548 0.481190100393494 0.52513456 0.5126127 prediction 0.476524814957096 Functional Loss - CAPN3 ENSG00000092529 CDS Human protein_coding chr15:42695113 chr15:42695111 synonymous SNV . 0 19 hm1A_associated_SNPs_8792 1 Uncertain significance not specified RCV000345342.1
1269 chr12 44182405 44182405 1 + C T rs4251556 44182407 + 44182387 44182427 41 GGCTGGAGTGCAGTGGCACGATCTCGGCTCACTGCAAGCTC GGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAAGCTC < 41bp 0.781052578848086 0.542800039530199 0.64584607 0.39316478 prediction 0.476505078635776 Functional Loss - IRAK4 ENSG00000198001 UTR3 Human protein_coding chr12:44182407 chr12:44182405 . . 0 19 hm1A_associated_SNPs_8793 1 Likely benign IRAK4 deficiency RCV000319653.1
1269 chr10 102568872 102568872 1 + C T rs1800897 102568874 + 102568854 102568894 41 TCTCTCCTCCCAGGGGAACGAGTACTCCCTCCCAGCCCTGA TCTCTCCTCCCAGGGGAATGAGTACTCCCTCCCAGCCCTGA < 41bp 0.792907724001818 0.554683014442094 0.5278778 0.406147 prediction 0.476449419119448 Functional Loss - PAX2 ENSG00000075891 CDS Human protein_coding chr10:102568874 chr10:102568872 synonymous SNV . 0 19 hm1A_associated_SNPs_8800 2 not provided not provided RCV000144382.1
1269 chr10 102568872 102568872 1 + C T rs1800897 102568874 + 102568854 102568894 41 TCTCTCCTCCCAGGGGAACGAGTACTCCCTCCCAGCCCTGA TCTCTCCTCCCAGGGGAATGAGTACTCCCTCCCAGCCCTGA < 41bp 0.792907724001818 0.554683014442094 0.5278778 0.406147 prediction 0.476449419119448 Functional Loss - PAX2 ENSG00000075891 CDS Human protein_coding chr10:102568874 chr10:102568872 synonymous SNV . 0 19 hm1A_associated_SNPs_8800 2 Benign not specified RCV000242495.1
1269 chr1 110170866 110170866 1 + C T rs114727970 110170868 + 110170848 110170888 41 CATGAATCTCACGGCCTACGACCTGAGTGTGGACACGCTGG CATGAATCTCACGGCCTATGACCTGAGTGTGGACACGCTGG < 41bp 0.737076163105067 0.490063833006716 0.37802052 0.3594186 prediction 0.474152326210133 Functional Loss - AMPD2 ENSG00000116337 CDS Human protein_coding chr1:110170868 chr1:110170866 synonymous SNV . 0 19 hm1A_associated_SNPs_9006 1 Uncertain significance not specified RCV000192657.1
1269 chr9 103054849 103054849 1 + C T rs116606949 103054851 + 103054831 103054871 41 TGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCCAGCA TGCAAGCCTTCCACCGCATGATAGCCACTGGAAGCCCAGCA < 41bp 0.736739612645235 0.448631737437883 0.68809265 0.367099 prediction 0.473479225290469 Functional Loss - INVS ENSG00000119509 CDS Human protein_coding chr9:103054851 chr9:103054849 synonymous SNV . 0 19 hm1A_associated_SNPs_9074 2 other Nephronophthisis RCV000226248.2
1269 chr9 103054849 103054849 1 + C T rs116606949 103054851 + 103054831 103054871 41 TGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCCAGCA TGCAAGCCTTCCACCGCATGATAGCCACTGGAAGCCCAGCA < 41bp 0.736739612645235 0.448631737437883 0.68809265 0.367099 prediction 0.473479225290469 Functional Loss - INVS ENSG00000119509 CDS Human protein_coding chr9:103054851 chr9:103054849 synonymous SNV . 0 19 hm1A_associated_SNPs_9074 2 Likely benign not specified RCV000247908.1
1269 chr4 120079273 120079273 1 + C T COAD 120079275 + 120079255 120079295 41 CCCAACACCCCAGATCCACGAAGCCCTCCAAATCCAGACAA CCCAACACCCCAGATCCATGAAGCCCTCCAAATCCAGACAA < 41bp 0.782881481439764 0.546330285092396 0.22622624 0.18811738 prediction 0.473102392694737 Functional Loss - MYOZ2 ENSG00000172399 CDS Human protein_coding chr4:120079275 chr4:120079273 stopgain 0.997 1 19 hm1A_associated_SNPs_9109 1 Uncertain significance Hypertrophic cardiomyopathy RCV000465076.1
1269 chr1 228345606 228345606 1 + C T rs139992251 228345608 + 228345588 228345628 41 CGAGGCCATCTACTCGGACGAGCAGGCCAAGTTCACTTGCA CGAGGCCATCTACTCGGATGAGCAGGCCAAGTTCACTTGCA < 41bp 0.807935590529164 0.571655518575377 0.653326 0.47276336 prediction 0.472560143907573 Functional Loss - GJC2 ENSG00000198835 CDS Human protein_coding chr1:228345608 chr1:228345606 synonymous SNV . 0 19 hm1A_associated_SNPs_9161 1 Likely benign not specified RCV000250957.1
1269 chr14 74711883 74711883 1 + C T rs35435463 74711885 + 74711865 74711905 41 CAGGACAATCTTTACCTCCTACCAGCTAGAGGAGCTGGAGA CAGGACAATCTTTACCTCTTACCAGCTAGAGGAGCTGGAGA < 41bp 0.764241291319655 0.528039074466858 0.3150208 0.24081331 prediction 0.472404433705594 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74711885 chr14:74711883 synonymous SNV . 0 19 hm1A_associated_SNPs_9175 3 Benign not specified RCV000154137.4
1269 chr14 74711883 74711883 1 + C T rs35435463 74711885 + 74711865 74711905 41 CAGGACAATCTTTACCTCCTACCAGCTAGAGGAGCTGGAGA CAGGACAATCTTTACCTCTTACCAGCTAGAGGAGCTGGAGA < 41bp 0.764241291319655 0.528039074466858 0.3150208 0.24081331 prediction 0.472404433705594 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74711885 chr14:74711883 synonymous SNV . 0 19 hm1A_associated_SNPs_9175 3 Benign Microphthalmia, isolated 6 RCV000276080.1
1269 chr14 74711883 74711883 1 + C T rs35435463 74711885 + 74711865 74711905 41 CAGGACAATCTTTACCTCCTACCAGCTAGAGGAGCTGGAGA CAGGACAATCTTTACCTCTTACCAGCTAGAGGAGCTGGAGA < 41bp 0.764241291319655 0.528039074466858 0.3150208 0.24081331 prediction 0.472404433705594 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74711885 chr14:74711883 synonymous SNV . 0 19 hm1A_associated_SNPs_9175 3 Benign VSX2-related Microphthalmia RCV000368201.1
1269 chr1 97771751 97771751 1 + C T COAD 97771753 + 97771733 97771773 41 CTTCCTTTGCAGCTCTTGCGATGCTCACAATATCAGTGACA CTTCCTTTGCAGCTCTTGTGATGCTCACAATATCAGTGACA < 41bp 0.815709544243133 0.579615840066006 0.17600906 0.08589813 prediction 0.472187408354255 Functional Loss - DPYD ENSG00000188641 CDS Human protein_coding chr1:97771753 chr1:97771751 nonsynonymous SNV 0.999 4 19 hm1A_associated_SNPs_9195 1 not provided not provided RCV000086464.1
1269 chr4 6302680 6302680 1 + C T rs71524354 6302682 + 6302662 6302702 41 GCTGCTGCGCTTCGAGCCCAACCTGGATGTGGAGCAGGCCG GCTGCTGCGCTTCGAGCCTAACCTGGATGTGGAGCAGGCCG < 41bp 0.824530247420632 0.588726381428932 0.6279733 0.510047 prediction 0.4716077319834 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6302682 chr4:6302680 synonymous SNV . 0 19 hm1A_associated_SNPs_9249 1 Benign not specified RCV000126316.1
1269 chr12 121434086 121434086 1 + C T UCEC 121434088 + 121434068 121434108 41 TGCGCTATGGACAGCCTGCGACCAGTGAGACTGCAGAAGTA TGCGCTATGGACAGCCTGTGACCAGTGAGACTGCAGAAGTA < 41bp 0.745398176193487 0.50989168897571 0.29956734 0.23396528 prediction 0.471012974435554 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121434088 chr12:121434086 stopgain 0.002 1 19 hm1A_associated_SNPs_9324 1 Uncertain significance not specified RCV000499904.1
1269 chr16 68835596 68835596 1 + C T BLCA 68835598 + 68835578 68835618 41 TTTGAAGATTGCACCGGTCGACAAAGGACAGCCTATTTTTC TTTGAAGATTGCACCGGTTGACAAAGGACAGCCTATTTTTC < 41bp 0.786744546166907 0.551312420866107 0.603017 0.35117096 prediction 0.470864250601601 Functional Loss - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68835598 chr16:68835596 stopgain 0.087 0 19 hm1A_associated_SNPs_9342 1 Pathogenic Hereditary diffuse gastric cancer RCV000144590.2
1269 chr9 101894916 101894916 1 + C T UCEC 101894918 + 101894898 101894938 41 CGCACTGTCATTCACCATCGAGTGCCAAATGAAGAGGACCC CGCACTGTCATTCACCATTGAGTGCCAAATGAAGAGGACCC < 41bp 0.80969691508696 0.574663768635617 0.29315323 0.1784319 prediction 0.470066292902687 Functional Loss - TGFBR1 ENSG00000106799 CDS Human protein_coding chr9:101894918 chr9:101894916 stopgain 0.999 1 19 hm1A_associated_SNPs_9418 1 Pathogenic Thoracic aortic aneurysm and aortic dissection RCV000461373.1
1269 chrX 17742490 17742490 1 + C T UCEC 17742492 + 17742472 17742512 41 TCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAAC TCGGTACTACAGCGGAGATGAAAATTGAGGAGGAGGAAAAC < 41bp 0.734574707947774 0.488545667005973 0.68939024 0.5474022 prediction 0.469149415895547 Functional Loss - NHS ENSG00000188158 CDS Human protein_coding chrX:17742492 chrX:17742490 stopgain 0.999 1 19 hm1A_associated_SNPs_9501 2 Pathogenic Nance-Horan syndrome RCV000011772.10
1269 chrX 17742490 17742490 1 + C T UCEC 17742492 + 17742472 17742512 41 TCGGTACTACAGCGGAGACGAAAATTGAGGAGGAGGAAAAC TCGGTACTACAGCGGAGATGAAAATTGAGGAGGAGGAAAAC < 41bp 0.734574707947774 0.488545667005973 0.68939024 0.5474022 prediction 0.469149415895547 Functional Loss - NHS ENSG00000188158 CDS Human protein_coding chrX:17742492 chrX:17742490 stopgain 0.999 1 19 hm1A_associated_SNPs_9501 2 Pathogenic not provided RCV000082793.4
1269 chr17 61566074 61566074 1 + C T KIRP 61566076 + 61566056 61566096 41 TGGGCATGGGAGGGCTGGCGAGACAAGGCGGGGAGAGCCAT TGGGCATGGGAGGGCTGGTGAGACAAGGCGGGGAGAGCCAT < 41bp 0.734347962499641 0.493326086469684 0.1505754 0.14747271 prediction 0.468695924999281 Functional Loss - ACE ENSG00000159640;ENSG00000264813 CDS Human other chr17:61566076 chr17:61566074 stopgain 0.883 1 19 hm1A_associated_SNPs_9542 1 Pathogenic Renal dysplasia RCV000043471.29
1269 chr11 2549206 2549206 1 + C T rs1800170 2549208 + 2549188 2549228 41 CAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCA CAGCGTGCTGTCCACCATTGAGCAGTATGCCGCCCTGGCCA < 41bp 0.734328442793846 0.495386190689586 0.25898755 0.23328444 prediction 0.468656885587691 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2549208 chr11:2549206 synonymous SNV . 0 19 hm1A_associated_SNPs_9545 7 Benign not specified RCV000150863.1
1269 chr11 2549206 2549206 1 + C T rs1800170 2549208 + 2549188 2549228 41 CAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCA CAGCGTGCTGTCCACCATTGAGCAGTATGCCGCCCTGGCCA < 41bp 0.734328442793846 0.495386190689586 0.25898755 0.23328444 prediction 0.468656885587691 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2549208 chr11:2549206 synonymous SNV . 0 19 hm1A_associated_SNPs_9545 7 other Long QT syndrome RCV000205669.4
1269 chr11 2549206 2549206 1 + C T rs1800170 2549208 + 2549188 2549228 41 CAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCA CAGCGTGCTGTCCACCATTGAGCAGTATGCCGCCCTGGCCA < 41bp 0.734328442793846 0.495386190689586 0.25898755 0.23328444 prediction 0.468656885587691 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2549208 chr11:2549206 synonymous SNV . 0 19 hm1A_associated_SNPs_9545 7 Benign Cardiovascular phenotype RCV000244395.1
1269 chr11 2549206 2549206 1 + C T rs1800170 2549208 + 2549188 2549228 41 CAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCA CAGCGTGCTGTCCACCATTGAGCAGTATGCCGCCCTGGCCA < 41bp 0.734328442793846 0.495386190689586 0.25898755 0.23328444 prediction 0.468656885587691 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2549208 chr11:2549206 synonymous SNV . 0 19 hm1A_associated_SNPs_9545 7 Likely benign Familial atrial fibrillation RCV000262280.1
1269 chr11 2549206 2549206 1 + C T rs1800170 2549208 + 2549188 2549228 41 CAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCA CAGCGTGCTGTCCACCATTGAGCAGTATGCCGCCCTGGCCA < 41bp 0.734328442793846 0.495386190689586 0.25898755 0.23328444 prediction 0.468656885587691 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2549208 chr11:2549206 synonymous SNV . 0 19 hm1A_associated_SNPs_9545 7 Likely benign short QT syndrome RCV000276186.1
1269 chr11 2549206 2549206 1 + C T rs1800170 2549208 + 2549188 2549228 41 CAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCA CAGCGTGCTGTCCACCATTGAGCAGTATGCCGCCCTGGCCA < 41bp 0.734328442793846 0.495386190689586 0.25898755 0.23328444 prediction 0.468656885587691 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2549208 chr11:2549206 synonymous SNV . 0 19 hm1A_associated_SNPs_9545 7 Likely benign Jervell and Lange-Nielsen syndrome RCV000357067.1
1269 chr11 2549206 2549206 1 + C T rs1800170 2549208 + 2549188 2549228 41 CAGCGTGCTGTCCACCATCGAGCAGTATGCCGCCCTGGCCA CAGCGTGCTGTCCACCATTGAGCAGTATGCCGCCCTGGCCA < 41bp 0.734328442793846 0.495386190689586 0.25898755 0.23328444 prediction 0.468656885587691 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2549208 chr11:2549206 synonymous SNV . 0 19 hm1A_associated_SNPs_9545 7 Likely benign Romano-Ward syndrome RCV000370718.1
1269 chr1 26135615 26135615 1 + C T rs34177164 26135617 + 26135597 26135637 41 CTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGATGT CTGCCTGACTGCCATCAGTGACTTCTACTACACTGTGATGT < 41bp 0.734119712483792 0.473328048413682 0.19322073 0.1522592 prediction 0.468239424967584 Functional Loss - SELENON ENSG00000162430 CDS Human protein_coding chr1:26135617 chr1:26135615 synonymous SNV . 0 19 hm1A_associated_SNPs_9590 1 Likely benign not specified RCV000179509.2
1269 chrX 135106524 135106524 1 + C T READ 135106526 + 135106506 135106546 41 GCATTTGCCTTGGCCATTCGAGATACTGCCACTTATGCACG GCATTTGCCTTGGCCATTTGAGATACTGCCACTTATGCACG < 41bp 0.802967947085266 0.568869182654225 0.09820303 0.074968785 prediction 0.468197528862083 Functional Loss - SLC9A6 ENSG00000198689 CDS Human protein_coding chrX:135106526 chrX:135106524 stopgain 0.999 1 19 hm1A_associated_SNPs_9596 1 Pathogenic Christianson syndrome RCV000012232.15
1269 chr2 241814577 241814577 1 + C A rs147106773 241814579 + 241814559 241814599 41 CTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGG CTCCTTCTACCTGGACATAAAGTGGCTGGCCAACTTCTGGG < 41bp 0.735726614604177 0.501694612890265 0.16564909 0.14991438 prediction 0.468064003427825 Functional Loss - AGXT ENSG00000172482 CDS Human protein_coding chr2:241814579 chr2:241814577 synonymous SNV . 0 19 hm1A_associated_SNPs_9612 2 Benign not specified RCV000253631.1
1269 chr2 241814577 241814577 1 + C A rs147106773 241814579 + 241814559 241814599 41 CTCCTTCTACCTGGACATCAAGTGGCTGGCCAACTTCTGGG CTCCTTCTACCTGGACATAAAGTGGCTGGCCAACTTCTGGG < 41bp 0.735726614604177 0.501694612890265 0.16564909 0.14991438 prediction 0.468064003427825 Functional Loss - AGXT ENSG00000172482 CDS Human protein_coding chr2:241814579 chr2:241814577 synonymous SNV . 0 19 hm1A_associated_SNPs_9612 2 Likely benign Primary hyperoxaluria RCV000269803.1
1269 chr4 56230300 56230300 1 + C T UCEC 56230302 + 56230282 56230322 41 CTGTGGCTGCACAGCTTACGAAGACTCTTCGAGTGCCTCTA CTGTGGCTGCACAGCTTATGAAGACTCTTCGAGTGCCTCTA < 41bp 0.733895373809455 0.452067416473439 0.14320362 0.106470555 prediction 0.46779074761891 Functional Loss - SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56230302 chr4:56230300 stopgain 0.005 1 19 hm1A_associated_SNPs_9643 1 Pathogenic Congenital disorder of glycosylation type 1Q RCV000000892.3
1269 chr14 60977955 60977955 1 + C T COAD 60977957 + 60977937 60977977 41 CATCACGTCCAGCGACAGCGAGTGCGACATCTGAGTTGCCC CATCACGTCCAGCGACAGTGAGTGCGACATCTGAGTTGCCC < 41bp 0.843444089031004 0.609723570477823 0.50426644 0.2589085 prediction 0.467441037106363 Functional Loss - SIX6 ENSG00000184302 CDS Human protein_coding chr14:60977957 chr14:60977955 synonymous SNV . 0 19 hm1A_associated_SNPs_9675 1 Uncertain significance Anophthalmia - microphthalmia RCV000287167.1
1269 chr17 73729697 73729697 1 + C T STAD 73729699 + 73729679 73729719 41 GCACTGTGTGTGCTACGGCGAAGGCCGCTACGAGGGTCAGT GCACTGTGTGTGCTACGGTGAAGGCCGCTACGAGGGTCAGT < 41bp 0.777595097119028 0.543893022527261 0.63111407 0.4555534 prediction 0.467404149183535 Functional Loss - ITGB4 ENSG00000132470 CDS Human protein_coding chr17:73729699 chr17:73729697 synonymous SNV . 0 19 hm1A_associated_SNPs_9680 1 Uncertain significance Epidermolysis bullosa junctionalis with pyloric atresia RCV000361719.1
1269 chrX 38262956 38262956 1 + C T SKCM 38262958 + 38262938 38262978 41 CCATCATGATGAGCGCAGCGAAATTCGGAATGCACCTTCAG CCATCATGATGAGCGCAGTGAAATTCGGAATGCACCTTCAG < 41bp 0.796847858862343 0.563714161744681 0.15952817 0.1338884 prediction 0.466267394235324 Functional Loss - OTC ENSG00000036473 CDS Human protein_coding chrX:38262958 chrX:38262956 nonsynonymous SNV 0.986 4 19 hm1A_associated_SNPs_9789 1 Pathogenic not provided RCV000083518.1
1269 chr6 106553435 106553435 1 + C T rs77256382 106553437 + 106553417 106553457 41 TCAACCCCACTTCTCTCCCGAGCTCGCTGCCCTCAGATGGA TCAACCCCACTTCTCTCCTGAGCTCGCTGCCCTCAGATGGA < 41bp 0.779738470478969 0.546616316345459 0.5178824 0.38372195 prediction 0.466244308267022 Functional Loss - PRDM1 ENSG00000057657 CDS Human protein_coding chr6:106553437 chr6:106553435 nonsynonymous SNV 0.004 4 19 hm1A_associated_SNPs_9792 1 not provided not specified RCV000121873.1
1269 chr2 207635989 207635989 1 + C T ACC 207635991 + 207635971 207636011 41 GTATTGGAAAAGATGCACCGATTGCTCTTAAGAGGAAACTG GTATTGGAAAAGATGCACTGATTGCTCTTAAGAGGAAACTG < 41bp 0.732910936578533 0.439381648862227 0.4013666 0.12934068 prediction 0.465821873157066 Functional Loss - FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207635991 chr2:207635989 nonsynonymous SNV 0.446 4 19 hm1A_associated_SNPs_9830 1 Likely pathogenic not provided RCV000196278.2
1269 chr5 121761178 121761178 1 + C T rs55770446 121761180 + 121761160 121761200 41 GATGGGAGAAGACTGCCTCAATGAGCGCAACACTGAGAAGT GATGGGAGAAGACTGCCTTAATGAGCGCAACACTGAGAAGT < 41bp 0.783018789450687 0.550395023033935 0.21404728 0.18971646 prediction 0.465247532833504 Functional Loss - SNCAIP ENSG00000064692 CDS Human protein_coding chr5:121761180 chr5:121761178 stopgain 0.888 0 19 hm1A_associated_SNPs_9877 1 Likely benign Parkinson Disease, Dominant/Recessive RCV000291899.1
1269 chr14 70418985 70418985 1 + C T rs143606483 70418987 + 70418967 70419007 41 GAGCCAAGTGCCGAGACCCGACCCTGGGCGTGGTGCATCGA GAGCCAAGTGCCGAGACCTGACCCTGGGCGTGGTGCATCGA < 41bp 0.756242686600589 0.523768981434873 0.35981438 0.33403045 prediction 0.464947410331432 Functional Loss - SMOC1 ENSG00000198732 CDS Human protein_coding chr14:70418987 chr14:70418985 nonsynonymous SNV 0.269 0 19 hm1A_associated_SNPs_9900 1 Uncertain significance not specified RCV000332875.2
1269 chr5 68728824 68728824 1 + C T rs61736168 68728826 + 68728806 68728846 41 AGACCAGTTTTCAGAGTACAAAGAGCTGTCTGCAGAAGTTC AGACCAGTTTTCAGAGTATAAAGAGCTGTCTGCAGAAGTTC < 41bp 0.84008418925802 0.608144691548432 0.16934818 0.12725627 prediction 0.463878995419175 Functional Loss - MARVELD2 ENSG00000152939 CDS Human protein_coding chr5:68728826 chr5:68728824 synonymous SNV . 0 19 hm1A_associated_SNPs_9997 2 other not specified RCV000036811.4
1269 chr5 68728824 68728824 1 + C T rs61736168 68728826 + 68728806 68728846 41 AGACCAGTTTTCAGAGTACAAAGAGCTGTCTGCAGAAGTTC AGACCAGTTTTCAGAGTATAAAGAGCTGTCTGCAGAAGTTC < 41bp 0.84008418925802 0.608144691548432 0.16934818 0.12725627 prediction 0.463878995419175 Functional Loss - MARVELD2 ENSG00000152939 CDS Human protein_coding chr5:68728826 chr5:68728824 synonymous SNV . 0 19 hm1A_associated_SNPs_9997 2 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000292080.1
1269 chr1 12023655 12023655 1 + C T rs74949176 12023657 + 12023637 12023677 41 TGCTGACGTGGCCCTGACCGAGCCCAACAGCCTGCGGCTGC TGCTGACGTGGCCCTGACTGAGCCCAACAGCCTGCGGCTGC < 41bp 0.731765616160129 0.468494736962604 0.7475394 0.3545462 prediction 0.463531232320257 Functional Loss - PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12023657 chr1:12023655 synonymous SNV . 0 19 hm1A_associated_SNPs_10033 1 Likely benign not specified RCV000424359.1
1269 chr17 27062353 27062353 1 + C T UCEC 27062355 + 27062335 27062375 41 CCTGGGCTGTGTCCTCTACGAGCTGGCCAGCCTCAAGAGGG CCTGGGCTGTGTCCTCTATGAGCTGGCCAGCCTCAAGAGGG < 41bp 0.790615084548603 0.558852390959388 0.32109457 0.22712123 prediction 0.463525387178431 Functional Loss - NEK8 ENSG00000160602 CDS Human protein_coding chr17:27062355 chr17:27062353 synonymous SNV . 0 19 hm1A_associated_SNPs_10035 1 Uncertain significance Nephronophthisis RCV000342342.1
1269 chrX 76711924 76711924 1 + C T UCEC 76711926 + 76711906 76711946 41 GAGGGATACAGGACTAAACGACACCAGAAATTCACTCACTT GAGGGATACAGGACTAAATGACACCAGAAATTCACTCACTT < 41bp 0.835825948455157 0.604185663048401 0.24576524 0.11819184 prediction 0.463280570813513 Functional Loss - FGF16 ENSG00000196468 CDS Human protein_coding chrX:76711926 chrX:76711924 unknown 1.000 0 19 hm1A_associated_SNPs_10056 1 Pathogenic Metacarpal 4-5 fusion RCV000056296.6
1269 chr6 43748479 43748479 1 + C T GBM 43748481 + 43748461 43748501 41 TTTTCCAGAAAATCAGTTCGAGGAAAGGGAAAGGGGCAAAA TTTTCCAGAAAATCAGTTTGAGGAAAGGGAAAGGGGCAAAA < 41bp 0.793886549380309 0.562408943923377 0.539431 0.37435302 prediction 0.462955210913864 Functional Loss - VEGFA ENSG00000112715 CDS Human protein_coding chr6:43748481 chr6:43748479 stopgain 1.000 0 19 hm1A_associated_SNPs_10085 1 Uncertain significance not specified RCV000265745.1
1269 chr20 30409275 30409275 1 + C T UCEC 30409277 + 30409257 30409297 41 GGCCAAGAAGCCCCCAAGCGAGGCATCAGAGCTCACCTTTG GGCCAAGAAGCCCCCAAGTGAGGCATCAGAGCTCACCTTTG < 41bp 0.737856661941432 0.506983737150478 0.23771602 0.17729688 prediction 0.461745849581907 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30409277 chr20:30409275 synonymous SNV . 0 19 hm1A_associated_SNPs_10190 1 Uncertain significance Familial hypertrophic cardiomyopathy 1 RCV000471417.1
1269 chr2 1507832 1507832 1 + C T rs142148533 1507834 + 1507814 1507854 41 CCCCTACGAGTTAGGAGACGATGGGAGAACCTGCGTAGGTG CCCCTACGAGTTAGGAGATGATGGGAGAACCTGCGTAGGTG < 41bp 0.730845113313908 0.476685985656831 0.6432632 0.45598087 prediction 0.461690226627817 Functional Loss - TPO ENSG00000115705 CDS Human protein_coding chr2:1507834 chr2:1507832 synonymous SNV . 0 19 hm1A_associated_SNPs_10196 1 Uncertain significance Congenital hypothyroidism RCV000272954.1
1269 chr4 88967864 88967864 1 + C T UCEC 88967866 + 88967846 88967886 41 CAGCCTTTAAAGCTGATCCGATATGTCACAACTTTTGATTT CAGCCTTTAAAGCTGATCTGATATGTCACAACTTTTGATTT < 41bp 0.850811162815105 0.620092809906052 0.21378386 0.051398993 prediction 0.461436705818106 Functional Loss - PKD2 ENSG00000118762 CDS Human protein_coding chr4:88967866 chr4:88967864 stopgain 0.935 0 19 hm1A_associated_SNPs_10229 1 Pathogenic Polycystic kidney disease 2 RCV000014476.27
1269 chr9 136522201 136522201 1 + C T rs200509113 136522203 + 136522183 136522223 41 CCCCACCAGGTTCAACAACGAGGATGTCTGCACCTGCCCTC CCCCACCAGGTTCAACAATGAGGATGTCTGCACCTGCCCTC < 41bp 0.758620550676494 0.528452701569913 0.1537748 0.12975389 prediction 0.460335698213163 Functional Loss - DBH ENSG00000123454 CDS Human protein_coding chr9:136522203 chr9:136522201 synonymous SNV . 0 19 hm1A_associated_SNPs_10351 1 Uncertain significance Dopamine beta hydroxylase deficiency RCV000353567.1
1269 chr14 65560500 65560500 1 + G A GBM 65560498 - 65560478 65560518 41 CATCATAATGCACTGGAACGAAAACGTAGGGACCACATCAA CATCATAATGCACTGGAATGAAAACGTAGGGACCACATCAA < 41bp 0.806454580197177 0.576470755675648 0.19887722 0.15169382 prediction 0.459967649043059 Functional Loss - MAX ENSG00000125952 CDS Human protein_coding chr14:65560498 chr14:65560500 stopgain 1.000 1 19 hm1A_associated_SNPs_10386 1 other Pheochromocytoma, susceptibility to RCV000022655.3
1269 chr1 247582326 247582326 1 + C T BRCA 247582328 + 247582308 247582348 41 CCGTGTGGATCTTCGCTGCGATCAACAGGAGAGACCTTTAT CCGTGTGGATCTTCGCTGTGATCAACAGGAGAGACCTTTAT < 41bp 0.778384177079283 0.548656115705497 0.6679451 0.35327747 prediction 0.459456122747572 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247582328 chr1:247582326 nonsynonymous SNV 0.756 1 19 hm1A_associated_SNPs_10437 1 Uncertain significance not specified RCV000213778.1
1269 chr2 99013259 99013259 1 + C T rs78583671 99013261 + 99013241 99013281 41 CCAGTTCGTGGTCCTCAGCGATGGCAGCTACTTCGGGGAGA CCAGTTCGTGGTCCTCAGTGATGGCAGCTACTTCGGGGAGA < 41bp 0.856046521885143 0.627141417291148 0.46205875 0.17544013 prediction 0.45781020918799 Functional Loss - CNGA3 ENSG00000144191 CDS Human protein_coding chr2:99013261 chr2:99013259 synonymous SNV . 0 19 hm1A_associated_SNPs_10605 1 Likely benign Achromatopsia RCV000322641.1
1269 chr11 85365183 85365183 1 + C T COAD 85365185 + 85365165 85365205 41 ATAGCAAACAGTCTTTTTCGACGCATCTTGAATGTGACAAA ATAGCAAACAGTCTTTTTTGACGCATCTTGAATGTGACAAA < 41bp 0.846749340672 0.618537335884468 0.19230288 0.1486004 prediction 0.456424009575063 Functional Loss - TMEM126A ENSG00000171202 CDS Human protein_coding chr11:85365185 chr11:85365183 stopgain 0.976 1 19 hm1A_associated_SNPs_10714 1 Pathogenic Optic atrophy 7 RCV000000438.3
1269 chr3 119205693 119205693 1 + C T UCEC 119205695 + 119205675 119205715 41 TATAGGACAAGTCCAGAACGAGATCCTCTCATTCTTCTGTC TATAGGACAAGTCCAGAATGAGATCCTCTCATTCTTCTGTC < 41bp 0.728163413730293 0.450796046332186 0.13152385 0.09598383 prediction 0.456326827460585 Functional Loss - POGLUT1 ENSG00000163389 CDS Human protein_coding chr3:119205695 chr3:119205693 stopgain 1.000 1 19 hm1A_associated_SNPs_10723 1 Pathogenic Dowling-degos disease 4 RCV000114420.3
1269 chr3 9476085 9476085 1 + C T UCEC 9476087 + 9476067 9476107 41 AACGCTGTGGAGACAGCCCGAACTCTGAAGGAGAAACTGTA AACGCTGTGGAGACAGCCTGAACTCTGAAGGAGAAACTGTA < 41bp 0.833612208762045 0.605854000475657 0.58334315 0.28411448 prediction 0.455516416572777 Functional Loss - SETD5 ENSG00000168137 CDS Human protein_coding chr3:9476087 chr3:9476085 nonsynonymous SNV 1.000 0 19 hm1A_associated_SNPs_10808 1 Uncertain significance not specified RCV000499911.1
1269 chr1 12034756 12034756 1 + C T rs557317492 12034758 + 12034738 12034778 41 ACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATG ACTGTTCCATCCGAGCCCTAAGGAAGGGCTGGACCCTCATG < 41bp 0.727560592148706 0.436110828496552 0.41439012 0.41733217 prediction 0.455121184297411 Functional Loss - PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12034758 chr1:12034756 nonsynonymous SNV 0.115 1 19 hm1A_associated_SNPs_10851 3 Likely pathogenic Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000202446.1
1269 chr1 12034756 12034756 1 + C T rs557317492 12034758 + 12034738 12034778 41 ACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATG ACTGTTCCATCCGAGCCCTAAGGAAGGGCTGGACCCTCATG < 41bp 0.727560592148706 0.436110828496552 0.41439012 0.41733217 prediction 0.455121184297411 Functional Loss - PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12034758 chr1:12034756 nonsynonymous SNV 0.115 1 19 hm1A_associated_SNPs_10851 3 Uncertain significance Thoracic aortic aneurysm and aortic dissection RCV000246181.1
1269 chr1 12034756 12034756 1 + C T rs557317492 12034758 + 12034738 12034778 41 ACTGTTCCATCCGAGCCCCAAGGAAGGGCTGGACCCTCATG ACTGTTCCATCCGAGCCCTAAGGAAGGGCTGGACCCTCATG < 41bp 0.727560592148706 0.436110828496552 0.41439012 0.41733217 prediction 0.455121184297411 Functional Loss - PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12034758 chr1:12034756 nonsynonymous SNV 0.115 1 19 hm1A_associated_SNPs_10851 3 Uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000301074.1
1269 chrX 153649739 153649739 1 + C T rs144283894 153649741 + 153649721 153649761 41 CCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACC CCTACCCACCGCCCTTGCTGAACCAGGAGCTGCTCACTACC < 41bp 0.745880500036821 0.518508024068008 0.29409134 0.15190917 prediction 0.454744951937626 Functional Loss - TAZ ENSG00000102125 UTR3 Human protein_coding chrX:153649741 chrX:153649739 . . 0 19 hm1A_associated_SNPs_10900 4 Likely benign Endocardial fibroelastosis RCV000280388.1
1269 chrX 153649739 153649739 1 + C T rs144283894 153649741 + 153649721 153649761 41 CCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACC CCTACCCACCGCCCTTGCTGAACCAGGAGCTGCTCACTACC < 41bp 0.745880500036821 0.518508024068008 0.29409134 0.15190917 prediction 0.454744951937626 Functional Loss - TAZ ENSG00000102125 UTR3 Human protein_coding chrX:153649741 chrX:153649739 . . 0 19 hm1A_associated_SNPs_10900 4 Likely benign Dilated cardiomyopathy 3B RCV000337834.1
1269 chrX 153649739 153649739 1 + C T rs144283894 153649741 + 153649721 153649761 41 CCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACC CCTACCCACCGCCCTTGCTGAACCAGGAGCTGCTCACTACC < 41bp 0.745880500036821 0.518508024068008 0.29409134 0.15190917 prediction 0.454744951937626 Functional Loss - TAZ ENSG00000102125 UTR3 Human protein_coding chrX:153649741 chrX:153649739 . . 0 19 hm1A_associated_SNPs_10900 4 Likely benign 3-Methylglutaconic aciduria type 2 RCV000395034.1
1269 chrX 153649739 153649739 1 + C T rs144283894 153649741 + 153649721 153649761 41 CCTACCCACCGCCCTTGCCGAACCAGGAGCTGCTCACTACC CCTACCCACCGCCCTTGCTGAACCAGGAGCTGCTCACTACC < 41bp 0.745880500036821 0.518508024068008 0.29409134 0.15190917 prediction 0.454744951937626 Functional Loss - TAZ ENSG00000102125 UTR3 Human protein_coding chrX:153649741 chrX:153649739 . . 0 19 hm1A_associated_SNPs_10900 4 Likely benign Left ventricular noncompaction cardiomyopathy RCV000404306.1
1269 chr2 98349454 98349454 1 + C T rs56340622 98349456 + 98349436 98349476 41 GGGCAAGTACTGCATTCCCGAGGGCACCAAGTTTGACACGC GGGCAAGTACTGCATTCCTGAGGGCACCAAGTTTGACACGC < 41bp 0.766622507462674 0.539388480969526 0.49186024 0.30876547 prediction 0.454468052986297 Functional Loss - ZAP70 ENSG00000115085 CDS Human protein_coding chr2:98349456 chr2:98349454 synonymous SNV . 0 19 hm1A_associated_SNPs_10921 1 Likely benign Severe Combined Immune Deficiency RCV000407147.1
1269 chr5 126758397 126758397 1 + C T UCEC 126758399 + 126758379 126758419 41 GAACTGTGCTGAGCGCTGCGACTGCAGCCACGCAGATGGCT GAACTGTGCTGAGCGCTGTGACTGCAGCCACGCAGATGGCT < 41bp 0.792014613773417 0.564947893223729 0.5404889 0.37352523 prediction 0.454133441099376 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126758399 chr5:126758397 synonymous SNV . 0 19 hm1A_associated_SNPs_10955 1 Likely benign not specified RCV000246222.2
1269 chr3 128628983 128628983 1 + C T rs141647117 128628985 + 128628965 128629005 41 CATTGGGCTCCGCAACCACGACCACGAGGTGAGCCCAGCCC CATTGGGCTCCGCAACCATGACCACGAGGTGAGCCCAGCCC < 41bp 0.75797341003098 0.531228905360598 0.68527406 0.6931723 prediction 0.453489009340763 Functional Loss - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128628985 chr3:128628983 synonymous SNV 0.010 0 19 hm1A_associated_SNPs_11020 1 Benign not specified RCV000123470.1
1269 chrX 37651246 37651246 1 + C T STAD 37651248 + 37651228 37651268 41 TGCTGCTCAACAAGAGTTCGAAGACAACTGGACAGGAATCT TGCTGCTCAACAAGAGTTTGAAGACAACTGGACAGGAATCT < 41bp 0.828176087671727 0.601450144788622 0.19833249 0.08898935 prediction 0.453451885766209 Functional Loss - CYBB ENSG00000165168 CDS Human protein_coding chrX:37651248 chrX:37651246 stopgain 1.000 1 19 hm1A_associated_SNPs_11024 1 Pathogenic not provided RCV000303335.1
1269 chr4 74274452 74274452 1 + C T UCEC 74274454 + 74274434 74274474 41 GACAACCCAAACCTCCCCCGATTGGTGAGACCAGAGGTTGA GACAACCCAAACCTCCCCTGATTGGTGAGACCAGAGGTTGA < 41bp 0.795633865345288 0.568997308177005 0.5151147 0.13124877 prediction 0.453273114336566 Functional Loss - ALB ENSG00000163631 CDS Human protein_coding chr4:74274454 chr4:74274452 stopgain 0.000 0 19 hm1A_associated_SNPs_11041 1 not provided Analbuminemia RCV000144404.1
1269 chr18 28913591 28913591 1 + C T GBM 28913593 + 28913573 28913613 41 GCTGTAAGAGGCTCTGACCGAGATGGCGGGGCAGATGGCAT GCTGTAAGAGGCTCTGACTGAGATGGCGGGGCAGATGGCAT < 41bp 0.765179252678541 0.538919667293579 0.23951116 0.20371139 prediction 0.452519170769923 Functional Loss - DSG1 ENSG00000134760 CDS Human protein_coding chr18:28913593 chr18:28913591 stopgain 0.775 0 19 hm1A_associated_SNPs_11129 1 Pathogenic not provided RCV000295636.1
1269 chr2 217279476 217279476 1 + C T UCEC 217279478 + 217279458 217279498 41 AAAAAGATTGAAGAGAATCGACAAAAGGCTCTGGCCCGCAG AAAAAGATTGAAGAGAATTGACAAAAGGCTCTGGCCCGCAG < 41bp 0.830149389632181 0.604790480024431 0.3131212 0.22936401 prediction 0.4507178192155 Functional Loss - SMARCAL1 ENSG00000138375 CDS Human protein_coding chr2:217279478 chr2:217279476 stopgain 0.998 1 19 hm1A_associated_SNPs_11319 1 Pathogenic Schimke immunoosseous dysplasia RCV000004389.3
1269 chr10 104268953 104268953 1 + T C rs35166585 104268952 + 104268932 104268972 41 TGGCCCAGACCCCTTGGACTATGTTAGCATGTACAGGAATG TGGCCCAGACCCCTTGGACTACGTTAGCATGTACAGGAATG < 41bp 0.734318378546527 0.509205592368666 0.14135447 0.18452322 prediction 0.450225572355722 Functional Loss - SUFU ENSG00000107882 CDS Human protein_coding chr10:104268952 chr10:104268953 synonymous SNV . 0 22 hm1A_associated_SNPs_11356 3 Benign Gorlin syndrome RCV000233220.2
1269 chr10 104268953 104268953 1 + T C rs35166585 104268952 + 104268932 104268972 41 TGGCCCAGACCCCTTGGACTATGTTAGCATGTACAGGAATG TGGCCCAGACCCCTTGGACTACGTTAGCATGTACAGGAATG < 41bp 0.734318378546527 0.509205592368666 0.14135447 0.18452322 prediction 0.450225572355722 Functional Loss - SUFU ENSG00000107882 CDS Human protein_coding chr10:104268952 chr10:104268953 synonymous SNV . 0 22 hm1A_associated_SNPs_11356 3 Benign Medulloblastoma RCV000233220.2
1269 chr10 104268953 104268953 1 + T C rs35166585 104268952 + 104268932 104268972 41 TGGCCCAGACCCCTTGGACTATGTTAGCATGTACAGGAATG TGGCCCAGACCCCTTGGACTACGTTAGCATGTACAGGAATG < 41bp 0.734318378546527 0.509205592368666 0.14135447 0.18452322 prediction 0.450225572355722 Functional Loss - SUFU ENSG00000107882 CDS Human protein_coding chr10:104268952 chr10:104268953 synonymous SNV . 0 22 hm1A_associated_SNPs_11356 3 Uncertain significance Medulloblastoma RCV000301743.1
1269 chr9 101585541 101585541 1 + C T rs114902755 101585543 + 101585523 101585563 41 CCGCTGTATTTGCAGGTGCAAAGAGAAGAAATATGATTATG CCGCTGTATTTGCAGGTGTAAAGAGAAGAAATATGATTATG < 41bp 0.725090403508282 0.461055540623598 0.10827106 0.101242304 prediction 0.450180807016563 Functional Loss - GALNT12 ENSG00000119514 CDS Human protein_coding chr9:101585543 chr9:101585541 synonymous SNV . 0 19 hm1A_associated_SNPs_11362 1 Benign not specified RCV000234383.2
1269 chr19 50918806 50918806 1 + C T SKCM 50918808 + 50918788 50918828 41 GCTGACCCGCGCGGCCTCCGACTATGCCGGCAAGCAGGCCC GCTGACCCGCGCGGCCTCTGACTATGCCGGCAAGCAGGCCC < 41bp 0.783345155373148 0.558264976855664 0.68495274 0.5879827 prediction 0.450160357034967 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50918808 chr19:50918806 synonymous SNV . 0 19 hm1A_associated_SNPs_11364 1 Likely benign not specified RCV000444516.1
1269 chr19 36211882 36211882 1 + C T STAD 36211884 + 36211864 36211904 41 GTCATCAAGACACCCCGGCGATTTATGGATGAAGACCCCCC GTCATCAAGACACCCCGGTGATTTATGGATGAAGACCCCCC < 41bp 0.850639430413369 0.625639310973804 0.6824559 0.23122543 prediction 0.450000238879131 Functional Loss - KMT2B ENSG00000272333 CDS Human protein_coding chr19:36211884 chr19:36211882 stopgain 0.987 0 19 hm1A_associated_SNPs_11374 1 Pathogenic Dystonia 28, childhood-onset RCV000415516.1
1269 chr15 63353404 63353404 1 + C T SKCM 63353406 + 63353386 63353426 41 TCCACTAACAGCCAAGTCCGACAGCTGGAAGAACAATTAAG TCCACTAACAGCCAAGTCTGACAGCTGGAAGAACAATTAAG < 41bp 0.790510584525871 0.565825152812137 0.3450032 0.18615472 prediction 0.44937086342747 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63353406 chr15:63353404 stopgain 1.000 0 19 hm1A_associated_SNPs_11443 1 Uncertain significance not provided RCV000172141.1
1269 chrX 138630614 138630614 1 + C T SKCM 138630616 + 138630596 138630636 41 TCCTGTACTGAGGGATATCGACTTGCAGAAAACCAGAAGTC TCCTGTACTGAGGGATATTGACTTGCAGAAAACCAGAAGTC < 41bp 0.724379200549923 0.467473483055613 0.25700533 0.18343869 prediction 0.448758401099846 Functional Loss - F9 ENSG00000101981 CDS Human protein_coding chrX:138630616 chrX:138630614 stopgain 0.968 0 19 hm1A_associated_SNPs_11508 1 Pathogenic Hereditary factor IX deficiency disease RCV000011386.4
1269 chr22 45683104 45683104 1 + C A rs138918236 45683106 + 45683086 45683126 41 CCAACACCCCACTGGGCTCAACGTTCCTACAAACAGAGGGT CCAACACCCCACTGGGCTAAACGTTCCTACAAACAGAGGGT < 41bp 0.760426453279475 0.536292423296346 0.15987024 0.15198702 prediction 0.448268059966257 Functional Loss - UPK3A ENSG00000100373 CDS Human protein_coding chr22:45683106 chr22:45683104 stopgain 0.002 0 19 hm1A_associated_SNPs_11561 1 Likely benign Renal adysplasia RCV000337872.1
1269 chr4 110897315 110897315 1 + C T rs11568993 110897317 + 110897297 110897337 41 TGACAAGTTGTACTGGTGCGATGCCAAGCAGTCTGTGATTG TGACAAGTTGTACTGGTGTGATGCCAAGCAGTCTGTGATTG < 41bp 0.723934189184826 0.412397084011036 0.58261836 0.12986088 prediction 0.447868378369651 Functional Loss - EGF ENSG00000138798 CDS Human protein_coding chr4:110897317 chr4:110897315 synonymous SNV . 0 19 hm1A_associated_SNPs_11611 1 Likely benign Renal Hypomagnesemia, Recessive RCV000350212.1
1269 chr15 63351840 63351840 1 + C A rs1071646 63351842 + 63351822 63351862 41 GATCCAACTGAAAGAGGCCAAGCACATTGCTGAAGATGCCG GATCCAACTGAAAGAGGCAAAGCACATTGCTGAAGATGCCG < 41bp 0.742076332563212 0.518194181572932 0.50076675 0.27922422 prediction 0.44776430198056 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63351842 chr15:63351840 synonymous SNV . 0 19 hm1A_associated_SNPs_11624 5 not provided not provided RCV000024584.3
1269 chr15 63351840 63351840 1 + C A rs1071646 63351842 + 63351822 63351862 41 GATCCAACTGAAAGAGGCCAAGCACATTGCTGAAGATGCCG GATCCAACTGAAAGAGGCAAAGCACATTGCTGAAGATGCCG < 41bp 0.742076332563212 0.518194181572932 0.50076675 0.27922422 prediction 0.44776430198056 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63351842 chr15:63351840 synonymous SNV . 0 19 hm1A_associated_SNPs_11624 5 Benign not specified RCV000036332.4
1269 chr15 63351840 63351840 1 + C A rs1071646 63351842 + 63351822 63351862 41 GATCCAACTGAAAGAGGCCAAGCACATTGCTGAAGATGCCG GATCCAACTGAAAGAGGCAAAGCACATTGCTGAAGATGCCG < 41bp 0.742076332563212 0.518194181572932 0.50076675 0.27922422 prediction 0.44776430198056 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63351842 chr15:63351840 synonymous SNV . 0 19 hm1A_associated_SNPs_11624 5 Benign Cardiovascular phenotype RCV000248314.1
1269 chr15 63351840 63351840 1 + C A rs1071646 63351842 + 63351822 63351862 41 GATCCAACTGAAAGAGGCCAAGCACATTGCTGAAGATGCCG GATCCAACTGAAAGAGGCAAAGCACATTGCTGAAGATGCCG < 41bp 0.742076332563212 0.518194181572932 0.50076675 0.27922422 prediction 0.44776430198056 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63351842 chr15:63351840 synonymous SNV . 0 19 hm1A_associated_SNPs_11624 5 Likely benign Dilated Cardiomyopathy, Dominant RCV000280647.1
1269 chr15 63351840 63351840 1 + C A rs1071646 63351842 + 63351822 63351862 41 GATCCAACTGAAAGAGGCCAAGCACATTGCTGAAGATGCCG GATCCAACTGAAAGAGGCAAAGCACATTGCTGAAGATGCCG < 41bp 0.742076332563212 0.518194181572932 0.50076675 0.27922422 prediction 0.44776430198056 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63351842 chr15:63351840 synonymous SNV . 0 19 hm1A_associated_SNPs_11624 5 Likely benign Hypertrophic cardiomyopathy RCV000373427.1
1269 chrX 152037558 152037558 1 + C T COAD 152037560 + 152037540 152037580 41 ATTCCACTACTACAGCTGCGAGAGAGCCAAAAAGGCCATGG ATTCCACTACTACAGCTGTGAGAGAGCCAAAAAGGCCATGG < 41bp 0.85508029739506 0.631351596552382 0.20292413 0.15222993 prediction 0.447457401685358 Functional Loss - NSDHL ENSG00000147383 CDS Human protein_coding chrX:152037560 chrX:152037558 synonymous SNV . 0 19 hm1A_associated_SNPs_11651 1 Likely benign not specified RCV000502473.1
1269 chr15 38591587 38591587 1 + C T HNSC 38591589 + 38591569 38591609 41 TTTAGTAATAGTTATGCACGAGTGCGAGCTGTGGTGATGAC TTTAGTAATAGTTATGCATGAGTGCGAGCTGTGGTGATGAC < 41bp 0.722816793634075 0.456928424032067 0.15000522 0.098811656 prediction 0.44563358726815 Functional Loss - SPRED1 ENSG00000166068 CDS Human protein_coding chr15:38591589 chr15:38591587 stopgain 1.000 1 19 hm1A_associated_SNPs_11857 1 Pathogenic not provided RCV000414009.1
1269 chr3 14176277 14176277 1 + C T STAD 14176279 + 14176259 14176299 41 GGTCCCCTCAGGCCTCATCGACAAAGTCGACAACTTCAAGT GGTCCCCTCAGGCCTCATTGACAAAGTCGACAACTTCAAGT < 41bp 0.8115129817234 0.588739734620763 0.60234034 0.3215496 prediction 0.445546494205274 Functional Loss - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14176279 chr3:14176277 synonymous SNV . 0 19 hm1A_associated_SNPs_11867 1 Likely benign Arrhythmogenic right ventricular cardiomyopathy, type 5 RCV000463198.1
1269 chr4 146560355 146560355 1 + C T UCEC 146560357 + 146560337 146560377 41 CTTTTAAGAGCACCTTTCCGATGTTACCACTTCATCTTTCA CTTTTAAGAGCACCTTTCTGATGTTACCACTTCATCTTTCA < 41bp 0.839231328272099 0.616515515009487 0.16845974 0.09134242 prediction 0.445431626525224 Functional Loss - MMAA ENSG00000151611 CDS Human protein_coding chr4:146560357 chr4:146560355 stopgain 0.025 0 19 hm1A_associated_SNPs_11885 2 Pathogenic Methylmalonic aciduria cblA type RCV000203329.1
1269 chr4 146560355 146560355 1 + C T UCEC 146560357 + 146560337 146560377 41 CTTTTAAGAGCACCTTTCCGATGTTACCACTTCATCTTTCA CTTTTAAGAGCACCTTTCTGATGTTACCACTTCATCTTTCA < 41bp 0.839231328272099 0.616515515009487 0.16845974 0.09134242 prediction 0.445431626525224 Functional Loss - MMAA ENSG00000151611 CDS Human protein_coding chr4:146560357 chr4:146560355 stopgain 0.025 0 19 hm1A_associated_SNPs_11885 2 Pathogenic not provided RCV000488986.1
1269 chr19 50910293 50910293 1 + C T rs2230247 50910295 + 50910275 50910315 41 GTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGG GTACTGCCTGAAGGATGCTTACCTGCCACTGCGGCTGCTGG < 41bp 0.784390338853619 0.562354812003391 0.41140896 0.38954085 prediction 0.444071053700457 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910295 chr19:50910293 synonymous SNV . 0 19 hm1A_associated_SNPs_12027 2 Benign not specified RCV000427134.1
1269 chr19 50910293 50910293 1 + C T rs2230247 50910295 + 50910275 50910315 41 GTACTGCCTGAAGGATGCCTACCTGCCACTGCGGCTGCTGG GTACTGCCTGAAGGATGCTTACCTGCCACTGCGGCTGCTGG < 41bp 0.784390338853619 0.562354812003391 0.41140896 0.38954085 prediction 0.444071053700457 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910295 chr19:50910293 synonymous SNV . 0 19 hm1A_associated_SNPs_12027 2 Benign Colorectal cancer 10 RCV000459453.1
1269 chr10 124266386 124266386 1 + C T CESC 124266388 + 124266368 124266408 41 CATGGACTACATCCAGACCGACGCCATCATCAACGTGAGCC CATGGACTACATCCAGACTGACGCCATCATCAACGTGAGCC < 41bp 0.816248329826982 0.594656749103097 0.6217027 0.32672316 prediction 0.44318316144777 Functional Loss - HTRA1 ENSG00000166033 CDS Human protein_coding chr10:124266388 chr10:124266386 synonymous SNV . 0 19 hm1A_associated_SNPs_12133 1 Uncertain significance not provided RCV000488019.1
1269 chr16 89623405 89623405 1 + C T rs61747711 89623407 + 89623387 89623427 41 CGCACCGCAGAGGTGGATCGACGCCCAGAGGGAGAAACAGG CGCACCGCAGAGGTGGATTGACGCCCAGAGGGAGAAACAGG < 41bp 0.866183034713606 0.644942559203963 0.8775517 0.8032501 prediction 0.442480951019287 Functional Loss - SPG7 ENSG00000197912 CDS Human protein_coding chr16:89623407 chr16:89623405 synonymous SNV . 0 19 hm1A_associated_SNPs_12205 2 Benign not specified RCV000128211.2
1269 chr16 89623405 89623405 1 + C T rs61747711 89623407 + 89623387 89623427 41 CGCACCGCAGAGGTGGATCGACGCCCAGAGGGAGAAACAGG CGCACCGCAGAGGTGGATTGACGCCCAGAGGGAGAAACAGG < 41bp 0.866183034713606 0.644942559203963 0.8775517 0.8032501 prediction 0.442480951019287 Functional Loss - SPG7 ENSG00000197912 CDS Human protein_coding chr16:89623407 chr16:89623405 synonymous SNV . 0 19 hm1A_associated_SNPs_12205 2 Benign Spastic paraplegia 7 RCV000459963.1
1269 chr1 41304093 41304093 1 + C G rs191631836 41304095 + 41304075 41304115 41 AGTGCCGCTGTTCGACCCCGACATCACCTCCGACTACCACA AGTGCCGCTGTTCGACCCGGACATCACCTCCGACTACCACA < 41bp 0.776545443056927 0.555403797853742 0.80778337 0.77311444 prediction 0.44228329040637 Functional Loss - KCNQ4 ENSG00000117013 CDS Human protein_coding chr1:41304095 chr1:41304093 synonymous SNV . 0 19 hm1A_associated_SNPs_12239 1 Benign not specified RCV000213130.1
1269 chr16 68732297 68732297 1 + C T rs202210726 68732299 + 68732279 68732319 41 GTACGGTGGCGGGGAGGACGACTAGGCGGCCTGCCTGCAGG GTACGGTGGCGGGGAGGATGACTAGGCGGCCTGCCTGCAGG < 41bp 0.819306380087464 0.598621601931993 0.7368556 0.7125752 prediction 0.441369556310942 Functional Loss - CDH3 ENSG00000062038 CDS Human protein_coding chr16:68732299 chr16:68732297 synonymous SNV . 0 19 hm1A_associated_SNPs_12337 1 Uncertain significance EEM syndrome RCV000372482.1
1269 chr4 5733379 5733379 1 + C T rs553634958 5733381 + 5733361 5733401 41 CCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAA CCCTGAAGTGCTGGCCTGTGAGAGGTAAGGAGAGCGGGCAA < 41bp 0.739354871059587 0.519256379915353 0.3925396 0.3249557 prediction 0.440196982288469 Functional Loss - EVC ENSG00000072840 CDS Human protein_coding chr4:5733381 chr4:5733379 synonymous SNV . 0 19 hm1A_associated_SNPs_12466 2 Likely benign Ellis-van Creveld Syndrome RCV000313721.1
1269 chr4 5733379 5733379 1 + C T rs553634958 5733381 + 5733361 5733401 41 CCCTGAAGTGCTGGCCTGCGAGAGGTAAGGAGAGCGGGCAA CCCTGAAGTGCTGGCCTGTGAGAGGTAAGGAGAGCGGGCAA < 41bp 0.739354871059587 0.519256379915353 0.3925396 0.3249557 prediction 0.440196982288469 Functional Loss - EVC ENSG00000072840 CDS Human protein_coding chr4:5733381 chr4:5733379 synonymous SNV . 0 19 hm1A_associated_SNPs_12466 2 Likely benign Curry-Hall syndrome RCV000370325.1
1269 chr18 72998004 72998004 1 + T C rs3744908 72998003 + 72997983 72998023 41 GCTGCAGCAGACGTCCTCGTATGGGCTGCTTCCTGAGCCCA GCTGCAGCAGACGTCCTCGTACGGGCTGCTTCCTGAGCCCA < 41bp 0.742546022838422 0.522471045527624 0.3148439 0.5131298 prediction 0.440149954621597 Functional Loss - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72998003 chr18:72998004 synonymous SNV . 0 22 hm1A_associated_SNPs_12469 1 Benign Aural atresia, congenital RCV000342688.1
1269 chr16 89592797 89592797 1 + C T UCEC 89592799 + 89592779 89592819 41 AAGTTTGAAGAGAAGCTTCGAGCAGCTGAAGATGAGCTGAA AAGTTTGAAGAGAAGCTTTGAGCAGCTGAAGATGAGCTGAA < 41bp 0.846000758070493 0.626291469799233 0.44494322 0.2858032 prediction 0.439418576542521 Functional Loss - SPG7 ENSG00000197912 CDS Human protein_coding chr16:89592799 chr16:89592797 stopgain 0.998 1 19 hm1A_associated_SNPs_12560 1 Pathogenic not provided RCV000276524.1
1269 chrX 115304255 115304255 1 + C T UCEC 115304257 + 115304237 115304277 41 GAAAACACTTACTGAAGACGAATAGCTATGGGAAGAACAGG GAAAACACTTACTGAAGATGAATAGCTATGGGAAGAACAGG < 41bp 0.719619790795973 0.442139982302301 0.11639774 0.113722265 prediction 0.439239581591947 Functional Loss - AGTR2 ENSG00000180772 CDS Human protein_coding chrX:115304257 chrX:115304255 nonsynonymous SNV 0.994 3 19 hm1A_associated_SNPs_12591 1 Uncertain significance not specified RCV000443904.1
1269 chr19 45206624 45206624 1 + T C rs114907619 45206623 + 45206603 45206643 41 GACTCCTCTTCCTCAGCCACATTCCTGAATGTGGGGGCCGA GACTCCTCTTCCTCAGCCACACTCCTGAATGTGGGGGCCGA < 41bp 0.79141941883783 0.572120835272299 0.13729182 0.129415 prediction 0.438597167131062 Functional Loss - CEACAM16 ENSG00000213892 CDS Human protein_coding chr19:45206623 chr19:45206624 nonsynonymous SNV 0.001 0 22 hm1A_associated_SNPs_12679 1 Benign not specified RCV000213726.1
1269 chr20 30418900 30418900 1 + C T GBM 30418902 + 30418882 30418922 41 GAATTATGACCAAATCTCCGATAAGACAGACATGTGGAGTA GAATTATGACCAAATCTCTGATAAGACAGACATGTGGAGTA < 41bp 0.851599699956361 0.632562033746107 0.35125178 0.08771914 prediction 0.438075332420508 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30418902 chr20:30418900 synonymous SNV . 0 19 hm1A_associated_SNPs_12748 1 Likely benign not specified RCV000418339.1
1269 chr22 51117580 51117580 1 + T C rs9616915 51117579 + 51117559 51117599 41 ACGACCACGCTCAGCTGGGGATCACCGACGAGAATGGCTGG ACGACCACGCTCAGCTGGGGACCACCGACGAGAATGGCTGG < 41bp 0.752233498613073 0.533368645458344 0.26241034 0.25410843 prediction 0.437729706309458 Functional Loss - SHANK3 ENSG00000251322 CDS Human protein_coding chr22:51117579 chr22:51117580 nonsynonymous SNV . 0 22 hm1A_associated_SNPs_12786 1 Benign not specified RCV000454654.1
1269 chr6 112382382 112382382 1 + C T rs112665393 112382384 + 112382364 112382404 41 ATGCTGTAAAATCTGTGCCAAGCAACCAGGGGAAATCTGCA ATGCTGTAAAATCTGTGCTAAGCAACCAGGGGAAATCTGCA < 41bp 0.821012895864491 0.602482859374637 0.20761752 0.22077203 prediction 0.437060072979709 Functional Loss - WISP3 ENSG00000112761 CDS Human protein_coding chr6:112382384 chr6:112382382 synonymous SNV . 0 19 hm1A_associated_SNPs_12853 1 Likely benign Progressive pseudorheumatoid dysplasia RCV000331501.1
1269 chr1 44365315 44365315 1 + C T rs201204481 44365317 + 44365297 44365337 41 GCAGCGGCCTGAGCAGTACGAGCGCGATTCTCTCTTTGTCC GCAGCGGCCTGAGCAGTATGAGCGCGATTCTCTCTTTGTCC < 41bp 0.72330639925546 0.504907987234649 0.7724198 0.73055804 prediction 0.436796824041622 Functional Loss - ST3GAL3 ENSG00000126091 CDS Human protein_coding chr1:44365317 chr1:44365315 synonymous SNV . 0 19 hm1A_associated_SNPs_12887 1 Uncertain significance not specified RCV000180632.1
1269 chr16 30762461 30762461 1 + C T SKCM 30762463 + 30762443 30762483 41 GTCCGCCGTTGTGTTCATCGAGCTACTGGCCACGAGTTTGC GTCCGCCGTTGTGTTCATTGAGCTACTGGCCACGAGTTTGC < 41bp 0.825674130752798 0.608051001905381 0.70172733 0.52545285 prediction 0.435246257694834 Functional Loss - PHKG2 ENSG00000156873 CDS Human protein_coding chr16:30762463 chr16:30762461 stopgain 0.999 0 19 hm1A_associated_SNPs_13076 1 Pathogenic Glycogen storage disease IXc RCV000014598.26
1269 chr2 233201319 233201319 1 + C T SKCM 233201321 + 233201301 233201341 41 GGAGTCTGACGGTGAGCCCGAGGACTCAAGCACCAGCTGAG GGAGTCTGACGGTGAGCCTGAGGACTCAAGCACCAGCTGAG < 41bp 0.732888371587627 0.515639709708794 0.74883837 0.73388004 prediction 0.434497323757665 Functional Loss - DIS3L2 ENSG00000144535 CDS Human protein_coding chr2:233201321 chr2:233201319 synonymous SNV . 0 19 hm1A_associated_SNPs_13162 1 other Renal hamartomas nephroblastomatosis and fetal gigantism RCV000314381.1
1269 chr2 44100948 44100948 1 + C T UCEC 44100950 + 44100930 44100970 41 CAGATTTCCAACGACTTCCGAGACCTGCCCACCCTCCTCAT CAGATTTCCAACGACTTCTGAGACCTGCCCACCCTCCTCAT < 41bp 0.716990055181965 0.439507010639361 0.50177336 0.28015232 prediction 0.43398011036393 Functional Loss - ABCG8 ENSG00000143921 CDS Human protein_coding chr2:44100950 chr2:44100948 stopgain 0.997 1 19 hm1A_associated_SNPs_13227 1 other Sitosterolemia RCV000005260.3
1269 chr2 203383560 203383560 1 + C T STAD 203383562 + 203383542 203383582 41 CAGCTGATTGGCCGAGGTCGATATGGAGCAGTATATAAAGG CAGCTGATTGGCCGAGGTTGATATGGAGCAGTATATAAAGG < 41bp 0.855892065071646 0.638916973474216 0.33626005 0.16825724 prediction 0.43395018319486 Functional Loss - BMPR2 ENSG00000204217 CDS Human protein_coding chr2:203383562 chr2:203383560 stopgain 0.997 1 19 hm1A_associated_SNPs_13232 2 Pathogenic not provided RCV000385546.1
1269 chr2 203383560 203383560 1 + C T STAD 203383562 + 203383542 203383582 41 CAGCTGATTGGCCGAGGTCGATATGGAGCAGTATATAAAGG CAGCTGATTGGCCGAGGTTGATATGGAGCAGTATATAAAGG < 41bp 0.855892065071646 0.638916973474216 0.33626005 0.16825724 prediction 0.43395018319486 Functional Loss - BMPR2 ENSG00000204217 CDS Human protein_coding chr2:203383562 chr2:203383560 stopgain 0.997 1 19 hm1A_associated_SNPs_13232 2 Pathogenic Primary pulmonary hypertension RCV000488654.1
1269 chr9 138647008 138647008 1 + C T UCEC 138647010 + 138646990 138647030 41 GAAAGATGACACTGTGGGCGATCCAGGTGAGTGCCCTACCC GAAAGATGACACTGTGGGTGATCCAGGTGAGTGCCCTACCC < 41bp 0.75967473012262 0.543212780030564 0.54682183 0.30092174 prediction 0.43292390018411 Functional Loss - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138647010 chr9:138647008 nonsynonymous SNV 0.353 0 19 hm1A_associated_SNPs_13355 1 Likely benign not specified RCV000419340.1
1269 chr11 36595176 36595176 1 + C T PAAD 36595178 + 36595158 36595198 41 ATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGG ATCCATCAAGCCAACCTTTGACATCTCTGCCGCATCTGTGG < 41bp 0.71645993406142 0.414303217309927 0.6084388 0.3359912 prediction 0.43291986812284 Functional Loss - RAG1 ENSG00000166349 CDS Human protein_coding chr11:36595178 chr11:36595176 stopgain 0.114 0 19 hm1A_associated_SNPs_13356 2 Likely pathogenic Severe combined immunodeficiency disease RCV000030393.1
1269 chr11 36595176 36595176 1 + C T PAAD 36595178 + 36595158 36595198 41 ATCCATCAAGCCAACCTTCGACATCTCTGCCGCATCTGTGG ATCCATCAAGCCAACCTTTGACATCTCTGCCGCATCTGTGG < 41bp 0.71645993406142 0.414303217309927 0.6084388 0.3359912 prediction 0.43291986812284 Functional Loss - RAG1 ENSG00000166349 CDS Human protein_coding chr11:36595178 chr11:36595176 stopgain 0.114 0 19 hm1A_associated_SNPs_13356 2 Pathogenic Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive RCV000397265.1
1269 chr11 281612 281612 1 + C T UCEC 281614 + 281594 281634 41 GTTGCTGTACTGCCTGTACGAGACGCAGGAGGACGCGTTTG GTTGCTGTACTGCCTGTATGAGACGCAGGAGGACGCGTTTG < 41bp 0.753673503102737 0.537521193896555 0.5612008 0.40373522 prediction 0.432304618412363 Functional Loss - NLRP6 ENSG00000174885 CDS Human protein_coding chr11:281614 chr11:281612 synonymous SNV . 0 19 hm1A_associated_SNPs_13426 1 not provided not provided RCV000089492.1
1269 chr11 66283014 66283014 1 + C T ESCA 66283016 + 66282996 66283036 41 CCCACATTGTCACAGGACCGAATCGACCCCTTAACCCTGAA CCCACATTGTCACAGGACTGAATCGACCCCTTAACCCTGAA < 41bp 0.716137343277307 0.449994523498754 0.7282361 0.3239508 prediction 0.432274686554614 Functional Loss - BBS1 ENSG00000174483;ENSG00000256349 CDS Human other chr11:66283016 chr11:66283014 stopgain 0.023 0 19 hm1A_associated_SNPs_13428 1 Likely pathogenic Bardet-Biedl syndrome RCV000169066.1
1269 chr9 2643480 2643480 1 + C T LUAD 2643482 + 2643462 2643502 41 TGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTG TGCATCCATAAGAAGTGGTGATGTGATGGGGACCCTGACTG < 41bp 0.837602571504026 0.621479380326126 0.42316326 0.2788418 prediction 0.4322463823558 Functional Loss - VLDLR ENSG00000147852 CDS Human protein_coding chr9:2643482 chr9:2643480 stopgain 0.980 1 19 hm1A_associated_SNPs_13431 2 Pathogenic Cerebellar ataxia and mental retardation with quadrupedal locomotion 1 RCV000012985.22
1269 chr9 2643480 2643480 1 + C T LUAD 2643482 + 2643462 2643502 41 TGCATCCATAAGAAGTGGCGATGTGATGGGGACCCTGACTG TGCATCCATAAGAAGTGGTGATGTGATGGGGACCCTGACTG < 41bp 0.837602571504026 0.621479380326126 0.42316326 0.2788418 prediction 0.4322463823558 Functional Loss - VLDLR ENSG00000147852 CDS Human protein_coding chr9:2643482 chr9:2643480 stopgain 0.980 1 19 hm1A_associated_SNPs_13431 2 Pathogenic Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 RCV000020557.1
1269 chr10 43609938 43609938 1 + C T UCEC 43609940 + 43609920 43609960 41 ACCCACAGATCCACTGTGCGACGAGCTGTGCCGCACGGTGA ACCCACAGATCCACTGTGTGACGAGCTGTGCCGCACGGTGA < 41bp 0.799425903561677 0.583477430373286 0.49530315 0.40420124 prediction 0.431896946376782 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609940 chr10:43609938 synonymous SNV . 0 19 hm1A_associated_SNPs_13467 1 Likely benign Multiple endocrine neoplasia, type 2 RCV000197302.2
1269 chr20 43052737 43052737 1 + C T COAD 43052739 + 43052719 43052759 41 CTTGGAGGACTACATCAACGACCGCCAGTATGACTCGCGTG CTTGGAGGACTACATCAATGACCGCCAGTATGACTCGCGTG < 41bp 0.818846666171551 0.603022947601457 0.614843 0.5704478 prediction 0.431647437140186 Functional Loss - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43052739 chr20:43052737 synonymous SNV . 0 19 hm1A_associated_SNPs_13493 1 Likely benign not specified RCV000501332.1
1269 chr3 30729962 30729962 1 + C T STAD 30729964 + 30729944 30729984 41 GACAACGTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAG GACAACGTGTTGAGAGATTGAGGGCGACCAGAAATTCCCAG < 41bp 0.842336318010321 0.627926301149593 0.5624327 0.24336678 prediction 0.428820033721456 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729964 chr3:30729962 stopgain 0.938 1 19 hm1A_associated_SNPs_13813 4 Pathogenic Loeys-Dietz syndrome 2 RCV000013344.24
1269 chr3 30729962 30729962 1 + C T STAD 30729964 + 30729944 30729984 41 GACAACGTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAG GACAACGTGTTGAGAGATTGAGGGCGACCAGAAATTCCCAG < 41bp 0.842336318010321 0.627926301149593 0.5624327 0.24336678 prediction 0.428820033721456 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729964 chr3:30729962 stopgain 0.938 1 19 hm1A_associated_SNPs_13813 4 Likely pathogenic Loeys-Dietz syndrome RCV000157519.1
1269 chr3 30729962 30729962 1 + C T STAD 30729964 + 30729944 30729984 41 GACAACGTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAG GACAACGTGTTGAGAGATTGAGGGCGACCAGAAATTCCCAG < 41bp 0.842336318010321 0.627926301149593 0.5624327 0.24336678 prediction 0.428820033721456 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729964 chr3:30729962 stopgain 0.938 1 19 hm1A_associated_SNPs_13813 4 Pathogenic not provided RCV000195964.1
1269 chr3 30729962 30729962 1 + C T STAD 30729964 + 30729944 30729984 41 GACAACGTGTTGAGAGATCGAGGGCGACCAGAAATTCCCAG GACAACGTGTTGAGAGATTGAGGGCGACCAGAAATTCCCAG < 41bp 0.842336318010321 0.627926301149593 0.5624327 0.24336678 prediction 0.428820033721456 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729964 chr3:30729962 stopgain 0.938 1 19 hm1A_associated_SNPs_13813 4 Pathogenic Thoracic aortic aneurysm and aortic dissection RCV000253575.1
1269 chr9 101606425 101606425 1 + C G rs35616709 101606427 + 101606407 101606447 41 CTTTGACTATAACCCTCCCGATGAAAACCAGATTGTGGGAC CTTTGACTATAACCCTCCGGATGAAAACCAGATTGTGGGAC < 41bp 0.748232518987648 0.5341575982506 0.5339745 0.29781526 prediction 0.428149841474095 Functional Loss - GALNT12 ENSG00000119514 CDS Human protein_coding chr9:101606427 chr9:101606425 synonymous SNV . 0 19 hm1A_associated_SNPs_13866 1 Benign not specified RCV000206253.2
1269 chr4 995305 995305 1 + T C rs6815946 995304 + 995284 995324 41 GTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACT GTGGAACTTCGAGACGTGGAACGAGCCAGACCACCACGACT < 41bp 0.713947037315332 0.496541997737835 0.6636101 0.7018565 prediction 0.427894074630664 Functional Loss - IDUA ENSG00000127415 CDS Human protein_coding chr4:995304 chr4:995305 synonymous SNV . 0 22 hm1A_associated_SNPs_13899 2 Benign not specified RCV000078395.6
1269 chr4 995305 995305 1 + T C rs6815946 995304 + 995284 995324 41 GTGGAACTTCGAGACGTGGAATGAGCCAGACCACCACGACT GTGGAACTTCGAGACGTGGAACGAGCCAGACCACCACGACT < 41bp 0.713947037315332 0.496541997737835 0.6636101 0.7018565 prediction 0.427894074630664 Functional Loss - IDUA ENSG00000127415 CDS Human protein_coding chr4:995304 chr4:995305 synonymous SNV . 0 22 hm1A_associated_SNPs_13899 2 Benign Mucopolysaccharidosis type I RCV000340349.1
1269 chr7 116381004 116381004 1 + C T PAAD 116381006 + 116380986 116381026 41 TCAGTGTGGCTGGTGCCACGACAAATGTGTGCGATCGGAGG TCAGTGTGGCTGGTGCCATGACAAATGTGTGCGATCGGAGG < 41bp 0.777770122821952 0.564464967094515 0.37571234 0.3890088 prediction 0.426610311454874 Functional Loss - MET ENSG00000105976 CDS Human protein_coding chr7:116381006 chr7:116381004 synonymous SNV . 0 19 hm1A_associated_SNPs_14030 1 Likely benign Renal cell carcinoma, papillary, 1 RCV000199732.1
1269 chr3 14180706 14180706 1 + C T rs35100587 14180708 + 14180688 14180728 41 TCATAGAGAACTAAGGAGCAACTCCATGAAGACCTGGGGCC TCATAGAGAACTAAGGAGTAACTCCATGAAGACCTGGGGCC < 41bp 0.83267339137548 0.619388969235933 0.31992263 0.30062002 prediction 0.426568844279095 Functional Loss - TMEM43 ENSG00000170876;ENSG00000268279 CDS Human other chr3:14180708 chr3:14180706 synonymous SNV . 0 19 hm1A_associated_SNPs_14038 4 Benign not specified RCV000039393.3
1269 chr3 14180706 14180706 1 + C T rs35100587 14180708 + 14180688 14180728 41 TCATAGAGAACTAAGGAGCAACTCCATGAAGACCTGGGGCC TCATAGAGAACTAAGGAGTAACTCCATGAAGACCTGGGGCC < 41bp 0.83267339137548 0.619388969235933 0.31992263 0.30062002 prediction 0.426568844279095 Functional Loss - TMEM43 ENSG00000170876;ENSG00000268279 CDS Human other chr3:14180708 chr3:14180706 synonymous SNV . 0 19 hm1A_associated_SNPs_14038 4 Benign Cardiovascular phenotype RCV000241757.1
1269 chr3 14180706 14180706 1 + C T rs35100587 14180708 + 14180688 14180728 41 TCATAGAGAACTAAGGAGCAACTCCATGAAGACCTGGGGCC TCATAGAGAACTAAGGAGTAACTCCATGAAGACCTGGGGCC < 41bp 0.83267339137548 0.619388969235933 0.31992263 0.30062002 prediction 0.426568844279095 Functional Loss - TMEM43 ENSG00000170876;ENSG00000268279 CDS Human other chr3:14180708 chr3:14180706 synonymous SNV . 0 19 hm1A_associated_SNPs_14038 4 Likely benign Cardiomyopathy, ARVC RCV000281924.1
1269 chr3 14180706 14180706 1 + C T rs35100587 14180708 + 14180688 14180728 41 TCATAGAGAACTAAGGAGCAACTCCATGAAGACCTGGGGCC TCATAGAGAACTAAGGAGTAACTCCATGAAGACCTGGGGCC < 41bp 0.83267339137548 0.619388969235933 0.31992263 0.30062002 prediction 0.426568844279095 Functional Loss - TMEM43 ENSG00000170876;ENSG00000268279 CDS Human other chr3:14180708 chr3:14180706 synonymous SNV . 0 19 hm1A_associated_SNPs_14038 4 Benign Arrhythmogenic right ventricular cardiomyopathy, type 5 RCV000477225.1
1269 chr17 4804902 4804902 1 + G A rs33970119 4804900 - 4804880 4804920 41 CTCTCAGACGTACAATGCCGAAGAGGTGGAGTTCACTTTTG CTCTCAGACGTACAATGCTGAAGAGGTGGAGTTCACTTTTG < 41bp 0.792968866317976 0.579782232837108 0.6528555 0.61718196 prediction 0.426373266961736 Functional Loss - CHRNE ENSG00000108556 CDS Human protein_coding chr17:4804900 chr17:4804902 synonymous SNV . 0 19 hm1A_associated_SNPs_14063 2 other not specified RCV000116740.4
1269 chr17 4804902 4804902 1 + G A rs33970119 4804900 - 4804880 4804920 41 CTCTCAGACGTACAATGCCGAAGAGGTGGAGTTCACTTTTG CTCTCAGACGTACAATGCTGAAGAGGTGGAGTTCACTTTTG < 41bp 0.792968866317976 0.579782232837108 0.6528555 0.61718196 prediction 0.426373266961736 Functional Loss - CHRNE ENSG00000108556 CDS Human protein_coding chr17:4804900 chr17:4804902 synonymous SNV . 0 19 hm1A_associated_SNPs_14063 2 Likely benign Congenital Myasthenic Syndrome, Dominant/Recessive RCV000341350.1
1269 chr19 39058515 39058515 1 + C T rs2302296 39058517 + 39058497 39058537 41 GAAGGAGGAAGCTGGAGGCGAATTCTGGGGAGAACTGGAGG GAAGGAGGAAGCTGGAGGTGAATTCTGGGGAGAACTGGAGG < 41bp 0.760016244208464 0.546886231413815 0.45052108 0.45647973 prediction 0.426260025589299 Functional Loss - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39058517 chr19:39058515 synonymous SNV . 0 19 hm1A_associated_SNPs_14075 1 not provided not provided RCV000119481.1
1269 chr1 156100408 156100408 1 + C T rs41313880 156100410 + 156100390 156100430 41 CTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACC CTCCCCTCTCTTCTTTAGTAATACCAAGAAGGAGGGTGACC < 41bp 0.843272526228858 0.630151037274198 0.114763856 0.12945276 prediction 0.42624297790932 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100410 chr1:156100408 synonymous SNV . 0 19 hm1A_associated_SNPs_14081 6 other not specified RCV000041345.5
1269 chr1 156100408 156100408 1 + C T rs41313880 156100410 + 156100390 156100430 41 CTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACC CTCCCCTCTCTTCTTTAGTAATACCAAGAAGGAGGGTGACC < 41bp 0.843272526228858 0.630151037274198 0.114763856 0.12945276 prediction 0.42624297790932 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100410 chr1:156100408 synonymous SNV . 0 19 hm1A_associated_SNPs_14081 6 Likely benign not provided RCV000057395.7
1269 chr1 156100408 156100408 1 + C T rs41313880 156100410 + 156100390 156100430 41 CTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACC CTCCCCTCTCTTCTTTAGTAATACCAAGAAGGAGGGTGACC < 41bp 0.843272526228858 0.630151037274198 0.114763856 0.12945276 prediction 0.42624297790932 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100410 chr1:156100408 synonymous SNV . 0 19 hm1A_associated_SNPs_14081 6 Likely benign Emery-Dreifuss muscular dystrophy RCV000148598.2
1269 chr1 156100408 156100408 1 + C T rs41313880 156100410 + 156100390 156100430 41 CTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACC CTCCCCTCTCTTCTTTAGTAATACCAAGAAGGAGGGTGACC < 41bp 0.843272526228858 0.630151037274198 0.114763856 0.12945276 prediction 0.42624297790932 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100410 chr1:156100408 synonymous SNV . 0 19 hm1A_associated_SNPs_14081 6 Likely benign Dilated cardiomyopathy RCV000211467.1
1269 chr1 156100408 156100408 1 + C T rs41313880 156100410 + 156100390 156100430 41 CTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACC CTCCCCTCTCTTCTTTAGTAATACCAAGAAGGAGGGTGACC < 41bp 0.843272526228858 0.630151037274198 0.114763856 0.12945276 prediction 0.42624297790932 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100410 chr1:156100408 synonymous SNV . 0 19 hm1A_associated_SNPs_14081 6 Benign Charcot-Marie-Tooth disease, type 2 RCV000228540.2
1269 chr1 156100408 156100408 1 + C T rs41313880 156100410 + 156100390 156100430 41 CTCCCCTCTCTTCTTTAGCAATACCAAGAAGGAGGGTGACC CTCCCCTCTCTTCTTTAGTAATACCAAGAAGGAGGGTGACC < 41bp 0.843272526228858 0.630151037274198 0.114763856 0.12945276 prediction 0.42624297790932 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100410 chr1:156100408 synonymous SNV . 0 19 hm1A_associated_SNPs_14081 6 Benign Cardiovascular phenotype RCV000249770.1
1269 chr13 115090509 115090509 1 + C T ESCA 115090511 + 115090491 115090531 41 TCTGGCCCACCAGAACTCCGAAAGACAGCTCCCACGTTGTC TCTGGCCCACCAGAACTCTGAAAGACAGCTCCCACGTTGTC < 41bp 0.819859325418812 0.606860540711754 0.28456622 0.19909608 prediction 0.425997569414116 Functional Loss - CHAMP1 ENSG00000198824 CDS Human protein_coding chr13:115090511 chr13:115090509 stopgain 0.998 1 19 hm1A_associated_SNPs_14103 2 Pathogenic intellectual disability with severe speech impairment RCV000190452.1
1269 chr13 115090509 115090509 1 + C T ESCA 115090511 + 115090491 115090531 41 TCTGGCCCACCAGAACTCCGAAAGACAGCTCCCACGTTGTC TCTGGCCCACCAGAACTCTGAAAGACAGCTCCCACGTTGTC < 41bp 0.819859325418812 0.606860540711754 0.28456622 0.19909608 prediction 0.425997569414116 Functional Loss - CHAMP1 ENSG00000198824 CDS Human protein_coding chr13:115090511 chr13:115090509 stopgain 0.998 1 19 hm1A_associated_SNPs_14103 2 Pathogenic Mental retardation, autosomal dominant 40 RCV000192002.3
1269 chr11 120998942 120998942 1 + C T rs10502247 120998944 + 120998924 120998964 41 CCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCG CCCAGAGTACTTGGAAATTGACATCAACAAGAAGAAGCCCG < 41bp 0.712974798803389 0.452414720603055 0.3366977 0.22768179 prediction 0.425949597606778 Functional Loss - TECTA ENSG00000109927 CDS Human protein_coding chr11:120998944 chr11:120998942 synonymous SNV . 0 19 hm1A_associated_SNPs_14109 3 Benign not specified RCV000038484.3
1269 chr11 120998942 120998942 1 + C T rs10502247 120998944 + 120998924 120998964 41 CCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCG CCCAGAGTACTTGGAAATTGACATCAACAAGAAGAAGCCCG < 41bp 0.712974798803389 0.452414720603055 0.3366977 0.22768179 prediction 0.425949597606778 Functional Loss - TECTA ENSG00000109927 CDS Human protein_coding chr11:120998944 chr11:120998942 synonymous SNV . 0 19 hm1A_associated_SNPs_14109 3 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000260464.1
1269 chr11 120998942 120998942 1 + C T rs10502247 120998944 + 120998924 120998964 41 CCCAGAGTACTTGGAAATCGACATCAACAAGAAGAAGCCCG CCCAGAGTACTTGGAAATTGACATCAACAAGAAGAAGCCCG < 41bp 0.712974798803389 0.452414720603055 0.3366977 0.22768179 prediction 0.425949597606778 Functional Loss - TECTA ENSG00000109927 CDS Human protein_coding chr11:120998944 chr11:120998942 synonymous SNV . 0 19 hm1A_associated_SNPs_14109 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000353054.1
1269 chr18 29178548 29178548 1 + C T BLCA 29178550 + 29178530 29178570 41 GGTGGTATTCACAGCCAACGACTCCGGCCCCCGCCGCTACA GGTGGTATTCACAGCCAATGACTCCGGCCCCCGCCGCTACA < 41bp 0.858076797321911 0.645326618702244 0.2698003 0.23809832 prediction 0.425500357239333 Functional Loss - TTR ENSG00000118271 CDS Human protein_coding chr18:29178550 chr18:29178548 synonymous SNV . 0 19 hm1A_associated_SNPs_14162 3 Likely benign not specified RCV000152542.2
1269 chr18 29178548 29178548 1 + C T BLCA 29178550 + 29178530 29178570 41 GGTGGTATTCACAGCCAACGACTCCGGCCCCCGCCGCTACA GGTGGTATTCACAGCCAATGACTCCGGCCCCCGCCGCTACA < 41bp 0.858076797321911 0.645326618702244 0.2698003 0.23809832 prediction 0.425500357239333 Functional Loss - TTR ENSG00000118271 CDS Human protein_coding chr18:29178550 chr18:29178548 synonymous SNV . 0 19 hm1A_associated_SNPs_14162 3 Likely benign Cardiovascular phenotype RCV000242314.1
1269 chr18 29178548 29178548 1 + C T BLCA 29178550 + 29178530 29178570 41 GGTGGTATTCACAGCCAACGACTCCGGCCCCCGCCGCTACA GGTGGTATTCACAGCCAATGACTCCGGCCCCCGCCGCTACA < 41bp 0.858076797321911 0.645326618702244 0.2698003 0.23809832 prediction 0.425500357239333 Functional Loss - TTR ENSG00000118271 CDS Human protein_coding chr18:29178550 chr18:29178548 synonymous SNV . 0 19 hm1A_associated_SNPs_14162 3 Likely benign Amyloidogenic transthyretin amyloidosis RCV000460535.1
1269 chr10 43597857 43597857 1 + C T rs142345108 43597859 + 43597839 43597879 41 CACATCCCTTCGTGAGGGCGAGTGCCAGTGGCCAGGCTGTG CACATCCCTTCGTGAGGGTGAGTGCCAGTGGCCAGGCTGTG < 41bp 0.842175844051248 0.62979885193595 0.334796 0.21749961 prediction 0.424753984230597 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43597859 chr10:43597857 synonymous SNV . 0 19 hm1A_associated_SNPs_14259 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000130281.3
1269 chr10 43597857 43597857 1 + C T rs142345108 43597859 + 43597839 43597879 41 CACATCCCTTCGTGAGGGCGAGTGCCAGTGGCCAGGCTGTG CACATCCCTTCGTGAGGGTGAGTGCCAGTGGCCAGGCTGTG < 41bp 0.842175844051248 0.62979885193595 0.334796 0.21749961 prediction 0.424753984230597 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43597859 chr10:43597857 synonymous SNV . 0 19 hm1A_associated_SNPs_14259 2 Benign Multiple endocrine neoplasia, type 2 RCV000467605.1
1269 chr11 86663069 86663069 1 + G A STAD 86663067 - 86663047 86663087 41 AGTACTGACCTTCCTGATCGATTCTTCTAGGTTTTCCTACC AGTACTGACCTTCCTGATTGATTCTTCTAGGTTTTCCTACC < 41bp 0.712348968633823 0.365365444172867 0.38799793 0.049475193 prediction 0.424697937267647 Functional Loss - FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663067 chr11:86663069 synonymous SNV . 0 19 hm1A_associated_SNPs_14267 1 Uncertain significance not specified RCV000175839.1
1269 chr4 187130310 187130310 1 + C T UCEC 187130312 + 187130292 187130332 41 ATGCATTGCACAGAGATCCGAGATACTTCCCCAACCCCGAG ATGCATTGCACAGAGATCTGAGATACTTCCCCAACCCCGAG < 41bp 0.836435070067504 0.624222393766073 0.40401825 0.22059625 prediction 0.424425352602863 Functional Loss - CYP4V2 ENSG00000145476;ENSG00000164344 CDS Human other chr4:187130312 chr4:187130310 nonsynonymous SNV 0.049 3 19 hm1A_associated_SNPs_14312 2 Uncertain significance Corneal Dystrophy, Recessive RCV000298644.1
1269 chr4 187130310 187130310 1 + C T UCEC 187130312 + 187130292 187130332 41 ATGCATTGCACAGAGATCCGAGATACTTCCCCAACCCCGAG ATGCATTGCACAGAGATCTGAGATACTTCCCCAACCCCGAG < 41bp 0.836435070067504 0.624222393766073 0.40401825 0.22059625 prediction 0.424425352602863 Functional Loss - CYP4V2 ENSG00000145476;ENSG00000164344 CDS Human other chr4:187130312 chr4:187130310 nonsynonymous SNV 0.049 3 19 hm1A_associated_SNPs_14312 2 Uncertain significance Bietti crystalline corneoretinal dystrophy RCV000355789.1
1269 chr9 103054732 103054732 1 + C T rs148758887 103054734 + 103054714 103054754 41 CAGAGGTGAGACAGCTGGCGATGAGCGGTGTGCAAAGGGGA CAGAGGTGAGACAGCTGGTGATGAGCGGTGTGCAAAGGGGA < 41bp 0.840651876981085 0.628459494232739 0.27998245 0.2589969 prediction 0.424384765496693 Functional Loss - INVS ENSG00000119509 CDS Human protein_coding chr9:103054734 chr9:103054732 synonymous SNV . 0 19 hm1A_associated_SNPs_14319 1 Likely benign not specified RCV000404909.1
1269 chr3 14170944 14170944 1 + C A UCEC 14170946 + 14170926 14170966 41 TACCCGGAGAGAACATGTCAAAGTTAAAACCAGCTCCCAGC TACCCGGAGAGAACATGTAAAAGTTAAAACCAGCTCCCAGC < 41bp 0.802833556749197 0.590715329791153 0.083198875 0.09889814 prediction 0.424236453916089 Functional Loss - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14170946 chr3:14170944 synonymous SNV . 0 19 hm1A_associated_SNPs_14339 1 other not specified RCV000154852.2
1269 chr15 75188506 75188506 1 + C T rs139190144 75188508 + 75188488 75188528 41 CTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGG CTCAGCGGCTGCCGGAAATAACATGGAGGACATCTTTGGGG < 41bp 0.819548826782027 0.607479260545967 0.27708843 0.22320098 prediction 0.42413913247212 Functional Loss - MPI ENSG00000178802 CDS Human protein_coding chr15:75188508 chr15:75188506 synonymous SNV . 0 19 hm1A_associated_SNPs_14353 2 Benign not specified RCV000153510.5
1269 chr15 75188506 75188506 1 + C T rs139190144 75188508 + 75188488 75188528 41 CTCAGCGGCTGCCGGAAACAACATGGAGGACATCTTTGGGG CTCAGCGGCTGCCGGAAATAACATGGAGGACATCTTTGGGG < 41bp 0.819548826782027 0.607479260545967 0.27708843 0.22320098 prediction 0.42413913247212 Functional Loss - MPI ENSG00000178802 CDS Human protein_coding chr15:75188508 chr15:75188506 synonymous SNV . 0 19 hm1A_associated_SNPs_14353 2 Likely benign Congenital disorder of glycosylation RCV000329835.1
1269 chr16 89245955 89245955 1 + C T rs2287358 89245957 + 89245937 89245977 41 CAGCGTATCCGAGAACCACAAGCGTCTCCCCTACCCCCTGG CAGCGTATCCGAGAACCATAAGCGTCTCCCCTACCCCCTGG < 41bp 0.774864720639468 0.563382154483754 0.5591175 0.5322391 prediction 0.422965132311427 Functional Loss - CDH15 ENSG00000129910 CDS Human protein_coding chr16:89245957 chr16:89245955 synonymous SNV . 0 19 hm1A_associated_SNPs_14504 1 Likely benign not specified RCV000116617.2
1269 chr7 50607694 50607694 1 + G A rs11575302 50607692 - 50607672 50607712 41 CAGCCCCTACTTCTTCGCCTACTTCCCCACTGCCAGCTCGT CAGCCCCTACTTCTTCGCTTACTTCCCCACTGCCAGCTCGT < 41bp 0.711271599711643 0.474614287551311 0.2705928 0.3200264 prediction 0.422543199423286 Functional Loss - DDC ENSG00000132437 CDS Human protein_coding chr7:50607692 chr7:50607694 synonymous SNV . 0 19 hm1A_associated_SNPs_14557 1 Likely benign Deficiency of aromatic-L-amino-acid decarboxylase RCV000394914.1
1269 chr3 38522875 38522875 1 + C T rs2228012 38522877 + 38522857 38522897 41 GAATGTATTGCTGAAGAGCGACCTCACAGCCGTGCTGGCTG GAATGTATTGCTGAAGAGTGACCTCACAGCCGTGCTGGCTG < 41bp 0.71124238817345 0.4432832791344 0.3271885 0.2337186 prediction 0.4224847763469 Functional Loss - ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38522877 chr3:38522875 synonymous SNV . 0 19 hm1A_associated_SNPs_14564 2 Benign Heterotaxy, visceral, 4, autosomal RCV000227436.2
1269 chr3 38522875 38522875 1 + C T rs2228012 38522877 + 38522857 38522897 41 GAATGTATTGCTGAAGAGCGACCTCACAGCCGTGCTGGCTG GAATGTATTGCTGAAGAGTGACCTCACAGCCGTGCTGGCTG < 41bp 0.71124238817345 0.4432832791344 0.3271885 0.2337186 prediction 0.4224847763469 Functional Loss - ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38522877 chr3:38522875 synonymous SNV . 0 19 hm1A_associated_SNPs_14564 2 Benign not specified RCV000254491.1
1269 chr10 43606732 43606732 1 + C T SKCM 43606734 + 43606714 43606754 41 GCTGCATTCCTCTGGTGCCAACTGCAGCACGCTAGGGGTGG GCTGCATTCCTCTGGTGCTAACTGCAGCACGCTAGGGGTGG < 41bp 0.711220561526298 0.448317714785896 0.28700247 0.2902212 prediction 0.422441123052596 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43606734 chr10:43606732 synonymous SNV . 0 19 hm1A_associated_SNPs_14570 1 Likely benign Hereditary cancer-predisposing syndrome RCV000214454.1
1269 chr4 6302656 6302656 1 + C A rs71530904 6302658 + 6302638 6302678 41 GAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGC GAACTTCCGCACCCTCACAGACCTGCTGCTGCGCTTCGAGC < 41bp 0.839505479589166 0.628609429315795 0.42803088 0.3443979 prediction 0.421792100546742 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6302658 chr4:6302656 synonymous SNV . 0 19 hm1A_associated_SNPs_14655 3 other not specified RCV000038634.5
1269 chr4 6302656 6302656 1 + C A rs71530904 6302658 + 6302638 6302678 41 GAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGC GAACTTCCGCACCCTCACAGACCTGCTGCTGCGCTTCGAGC < 41bp 0.839505479589166 0.628609429315795 0.42803088 0.3443979 prediction 0.421792100546742 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6302658 chr4:6302656 synonymous SNV . 0 19 hm1A_associated_SNPs_14655 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000285280.1
1269 chr4 6302656 6302656 1 + C A rs71530904 6302658 + 6302638 6302678 41 GAACTTCCGCACCCTCACCGACCTGCTGCTGCGCTTCGAGC GAACTTCCGCACCCTCACAGACCTGCTGCTGCGCTTCGAGC < 41bp 0.839505479589166 0.628609429315795 0.42803088 0.3443979 prediction 0.421792100546742 Functional Loss - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6302658 chr4:6302656 synonymous SNV . 0 19 hm1A_associated_SNPs_14655 3 Likely benign WFS1-Related Spectrum Disorders RCV000379830.1
1269 chr5 169535522 169535522 1 + T C rs10063424 169535521 + 169535501 169535541 41 GCCCACCAACATGCTCAGCTATGGAGGATCTGTGCTCAGCC GCCCACCAACATGCTCAGCTACGGAGGATCTGTGCTCAGCC < 41bp 0.820849726459991 0.610197534892272 0.25253958 0.5081487 prediction 0.421304383135439 Functional Loss - FOXI1 ENSG00000168269 CDS Human protein_coding chr5:169535521 chr5:169535522 synonymous SNV . 0 22 hm1A_associated_SNPs_14709 3 Benign not specified RCV000249027.1
1269 chr5 169535522 169535522 1 + T C rs10063424 169535521 + 169535501 169535541 41 GCCCACCAACATGCTCAGCTATGGAGGATCTGTGCTCAGCC GCCCACCAACATGCTCAGCTACGGAGGATCTGTGCTCAGCC < 41bp 0.820849726459991 0.610197534892272 0.25253958 0.5081487 prediction 0.421304383135439 Functional Loss - FOXI1 ENSG00000168269 CDS Human protein_coding chr5:169535521 chr5:169535522 synonymous SNV . 0 22 hm1A_associated_SNPs_14709 3 Benign Nonsyndromic Hearing Loss, Mixed RCV000304739.1
1269 chr5 169535522 169535522 1 + T C rs10063424 169535521 + 169535501 169535541 41 GCCCACCAACATGCTCAGCTATGGAGGATCTGTGCTCAGCC GCCCACCAACATGCTCAGCTACGGAGGATCTGTGCTCAGCC < 41bp 0.820849726459991 0.610197534892272 0.25253958 0.5081487 prediction 0.421304383135439 Functional Loss - FOXI1 ENSG00000168269 CDS Human protein_coding chr5:169535521 chr5:169535522 synonymous SNV . 0 22 hm1A_associated_SNPs_14709 3 Benign Pendred's syndrome RCV000361597.1
1269 chr20 9376240 9376240 1 + C T UCEC 9376242 + 9376222 9376262 41 AGCAAACATCTTAGAGGACGATAATGAAGAGGAGATCGAAA AGCAAACATCTTAGAGGATGATAATGAAGAGGAGATCGAAA < 41bp 0.710387174286078 0.422569591207427 0.32519126 0.18187651 prediction 0.420774348572155 Functional Loss - PLCB4 ENSG00000101333 CDS Human protein_coding chr20:9376242 chr20:9376240 synonymous SNV . 0 19 hm1A_associated_SNPs_14782 1 Likely benign Auriculocondylar syndrome RCV000323757.1
1269 chr2 46605046 46605046 1 + C T SARC 46605048 + 46605028 46605068 41 CACAGGGAATCAGAACTTCGAGGAGTCCTCAGCCTATGGCA CACAGGGAATCAGAACTTTGAGGAGTCCTCAGCCTATGGCA < 41bp 0.827363162159596 0.617221911244137 0.25248015 0.21051145 prediction 0.420282501830919 Functional Loss - EPAS1 ENSG00000116016 CDS Human protein_coding chr2:46605048 chr2:46605046 synonymous SNV . 0 19 hm1A_associated_SNPs_14848 1 Uncertain significance Familial erythrocytosis RCV000341286.1
1269 chr19 39075642 39075642 1 + C T UCEC 39075644 + 39075624 39075664 41 AGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAAT AGGCATTGGGGACGAGATTGAGGACCCCGCGGGTGACGAAT < 41bp 0.710072906927857 0.486144344734145 0.73596424 0.720282 prediction 0.420145813855714 Functional Loss - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39075644 chr19:39075642 synonymous SNV . 0 19 hm1A_associated_SNPs_14866 4 Uncertain significance Central core disease RCV000287271.1
1269 chr19 39075642 39075642 1 + C T UCEC 39075644 + 39075624 39075664 41 AGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAAT AGGCATTGGGGACGAGATTGAGGACCCCGCGGGTGACGAAT < 41bp 0.710072906927857 0.486144344734145 0.73596424 0.720282 prediction 0.420145813855714 Functional Loss - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39075644 chr19:39075642 synonymous SNV . 0 19 hm1A_associated_SNPs_14866 4 Uncertain significance Neuromuscular disease, congenital, with uniform type 1 fiber RCV000336592.1
1269 chr19 39075642 39075642 1 + C T UCEC 39075644 + 39075624 39075664 41 AGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAAT AGGCATTGGGGACGAGATTGAGGACCCCGCGGGTGACGAAT < 41bp 0.710072906927857 0.486144344734145 0.73596424 0.720282 prediction 0.420145813855714 Functional Loss - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39075644 chr19:39075642 synonymous SNV . 0 19 hm1A_associated_SNPs_14866 4 Uncertain significance Malignant hyperthermia susceptibility RCV000342306.1
1269 chr19 39075642 39075642 1 + C T UCEC 39075644 + 39075624 39075664 41 AGGCATTGGGGACGAGATCGAGGACCCCGCGGGTGACGAAT AGGCATTGGGGACGAGATTGAGGACCCCGCGGGTGACGAAT < 41bp 0.710072906927857 0.486144344734145 0.73596424 0.720282 prediction 0.420145813855714 Functional Loss - RYR1 ENSG00000196218 CDS Human protein_coding chr19:39075644 chr19:39075642 synonymous SNV . 0 19 hm1A_associated_SNPs_14866 4 Uncertain significance Multiminicore Disease RCV000395190.1
1269 chr16 68721470 68721470 1 + T C rs2296405 68721469 + 68721449 68721489 41 GCTAACACTGATTGATGTCAATGACCATGGCCCAGTCCCTG GCTAACACTGATTGATGTCAACGACCATGGCCCAGTCCCTG < 41bp 0.776798497205413 0.567094787967798 0.085327595 0.13055235 prediction 0.419407418475229 Functional Loss - CDH3 ENSG00000062038 CDS Human protein_coding chr16:68721469 chr16:68721470 synonymous SNV . 0 22 hm1A_associated_SNPs_14960 1 Benign EEM syndrome RCV000336277.1
1269 chr17 61566335 61566335 1 + T C rs13306091 61566334 + 61566314 61566354 41 CAGGGGACTCGTGGAGGTCTATGTACGAGACACCATCCCTG CAGGGGACTCGTGGAGGTCTACGTACGAGACACCATCCCTG < 41bp 0.777868075091431 0.568457213347902 0.2516824 0.44374573 prediction 0.418821723487056 Functional Loss - ACE ENSG00000159640;ENSG00000264813 CDS Human other chr17:61566334 chr17:61566335 nonsynonymous SNV 0.001 0 22 hm1A_associated_SNPs_15020 1 Uncertain significance Renal dysplasia RCV000313206.1
1269 chr12 4796244 4796244 1 + T C rs146190369 4796243 + 4796223 4796263 41 GCTGTCTGCTGAAATTGAGGATGTGAAGCCGGCCAAGACCG GCTGTCTGCTGAAATTGAGGACGTGAAGCCGGCCAAGACCG < 41bp 0.732139986495878 0.523095990551921 0.4057442 0.60322094 prediction 0.418087991887914 Functional Loss - NDUFA9 ENSG00000139180 CDS Human protein_coding chr12:4796243 chr12:4796244 synonymous SNV . 0 22 hm1A_associated_SNPs_15107 1 Likely benign not specified RCV000424846.1
1269 chrX 38271205 38271205 1 + C T UCEC 38271207 + 38271187 38271227 41 GAAGTCTTTTATTCTCCTCGATCACTAGTGTTCCCAGAGGC GAAGTCTTTTATTCTCCTTGATCACTAGTGTTCCCAGAGGC < 41bp 0.708803169358093 0.404965355304034 0.591451 0.2680377 prediction 0.417606338716186 Functional Loss - OTC ENSG00000036473 CDS Human protein_coding chrX:38271207 chrX:38271205 stopgain 0.919 1 19 hm1A_associated_SNPs_15158 1 Pathogenic not provided RCV000083620.3
1269 chr1 55473935 55473935 1 + T C rs200886926 55473934 + 55473914 55473954 41 CCCCTTGGCTTCCTTCCAAGATGACCTGGACATGGACTCCA CCCCTTGGCTTCCTTCCAAGACGACCTGGACATGGACTCCA < 41bp 0.708737909319016 0.469215961953968 0.28072625 0.39992115 prediction 0.417475818638033 Functional Loss - BSND ENSG00000162399 CDS Human protein_coding chr1:55473934 chr1:55473935 synonymous SNV . 0 22 hm1A_associated_SNPs_15175 1 Benign not specified RCV000219125.1
1269 chr3 128618283 128618283 1 + T C rs1979529 128618282 + 128618262 128618302 41 AATGGGAAACCCGAAGATAAATTAGGCATTCGGGGCTCCAA AATGGGAAACCCGAAGATAAACTAGGCATTCGGGGCTCCAA < 41bp 0.736312111832907 0.527813564529703 0.27188987 0.24794304 prediction 0.416997094606409 Functional Loss - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128618282 chr3:128618283 synonymous SNV . 0 22 hm1A_associated_SNPs_15233 2 Benign not specified RCV000123466.1
1269 chr3 128618283 128618283 1 + T C rs1979529 128618282 + 128618262 128618302 41 AATGGGAAACCCGAAGATAAATTAGGCATTCGGGGCTCCAA AATGGGAAACCCGAAGATAAACTAGGCATTCGGGGCTCCAA < 41bp 0.736312111832907 0.527813564529703 0.27188987 0.24794304 prediction 0.416997094606409 Functional Loss - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128618282 chr3:128618283 synonymous SNV . 0 22 hm1A_associated_SNPs_15233 2 Likely benign Acyl-CoA dehydrogenase family, member 9, deficiency of RCV000294963.1
1269 chr20 62316944 62316944 1 + C T rs188479221 62316946 + 62316926 62316966 41 GCTGGGGGCCTTACAGTCCTATAAGGTAGGGGCCACCTCCA GCTGGGGGCCTTACAGTCTTATAAGGTAGGGGCCACCTCCA < 41bp 0.787449895386314 0.579077418073162 0.13852319 0.12188676 prediction 0.416744954626304 Functional Loss - RTEL1 ENSG00000026036;ENSG00000258366 CDS Human other chr20:62316946 chr20:62316944 synonymous SNV . 0 19 hm1A_associated_SNPs_15266 1 Likely benign not specified RCV000499652.1
1269 chr16 89579416 89579416 1 + C T LGG 89579418 + 89579398 89579438 41 ATAAGGAGAAGGATAAGTCGAAGGGGAAGGCGCCTGAAGAG ATAAGGAGAAGGATAAGTTGAAGGGGAAGGCGCCTGAAGAG < 41bp 0.833705468457266 0.625469521904077 0.6206443 0.5053219 prediction 0.416471893106377 Functional Loss - SPG7 ENSG00000197912 CDS Human protein_coding chr16:89579418 chr16:89579416 nonsynonymous SNV 0.039 1 19 hm1A_associated_SNPs_15306 1 Likely benign not specified RCV000200302.2
1269 chr17 18023161 18023161 1 + C T SKCM 18023163 + 18023143 18023183 41 GGATCCCTATGCGCCGTACGACGCGCCATACCCACCCTATG GGATCCCTATGCGCCGTATGACGCGCCATACCCACCCTATG < 41bp 0.708030374266036 0.482808417323423 0.7300499 0.40293437 prediction 0.416060748532072 Functional Loss - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18023163 chr17:18023161 synonymous SNV . 0 19 hm1A_associated_SNPs_15361 1 Likely benign not specified RCV000222286.1
1269 chr17 7359154 7359154 1 + T C rs76927517 7359153 + 7359133 7359173 41 CCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCT CCCCTGATCTGCGGCGATTTACCGATGGTCCAAACCGGGCT < 41bp 0.732419748804541 0.524457701765276 0.40554273 0.38747543 prediction 0.41592409407853 Functional Loss - CHRNB1 ENSG00000170175 CDS Human protein_coding chr17:7359153 chr17:7359154 nonsynonymous SNV 1.000 1 22 hm1A_associated_SNPs_15386 2 other not specified RCV000116724.4
1269 chr17 7359154 7359154 1 + T C rs76927517 7359153 + 7359133 7359173 41 CCCCTGATCTGCGGCGATTTATCGATGGTCCAAACCGGGCT CCCCTGATCTGCGGCGATTTACCGATGGTCCAAACCGGGCT < 41bp 0.732419748804541 0.524457701765276 0.40554273 0.38747543 prediction 0.41592409407853 Functional Loss - CHRNB1 ENSG00000170175 CDS Human protein_coding chr17:7359153 chr17:7359154 nonsynonymous SNV 1.000 1 22 hm1A_associated_SNPs_15386 2 Likely benign Congenital Myasthenic Syndrome, Dominant/Recessive RCV000276935.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic Absent or delayed speech development RCV000149564.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic Deeply set eye RCV000149564.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic Feeding difficulties RCV000149564.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic Intellectual disability RCV000149564.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic Microcephaly RCV000149564.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic Seizures RCV000149564.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic Mental retardation, autosomal dominant 7 RCV000193013.1
1269 chr21 38877655 38877655 1 + C T COAD 38877657 + 38877637 38877677 41 ACAGGAGGACCTGGTGGGCGACGTGCTGGGGAGTCAGGTCA ACAGGAGGACCTGGTGGGTGACGTGCTGGGGAGTCAGGTCA < 41bp 0.770319825872759 0.562449280046071 0.6087961 0.5337176 prediction 0.415741091653376 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38877657 chr21:38877655 stopgain 0.971 1 19 hm1A_associated_SNPs_15410 8 Pathogenic not provided RCV000413642.1
1269 chr5 126732420 126732420 1 + C T rs113794264 126732422 + 126732402 126732442 41 CCAGAATGGAGCCACCTGCGACCACGTCACGGGGGAATGCC CCAGAATGGAGCCACCTGTGACCACGTCACGGGGGAATGCC < 41bp 0.810792846074977 0.603405926208678 0.3013922 0.25269467 prediction 0.414773839732599 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126732422 chr5:126732420 synonymous SNV . 0 19 hm1A_associated_SNPs_15518 2 Benign not specified RCV000249391.2
1269 chr5 126732420 126732420 1 + C T rs113794264 126732422 + 126732402 126732442 41 CCAGAATGGAGCCACCTGCGACCACGTCACGGGGGAATGCC CCAGAATGGAGCCACCTGTGACCACGTCACGGGGGAATGCC < 41bp 0.810792846074977 0.603405926208678 0.3013922 0.25269467 prediction 0.414773839732599 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126732422 chr5:126732420 synonymous SNV . 0 19 hm1A_associated_SNPs_15518 2 Uncertain significance Myopathy, areflexia, respiratory distress, and dysphagia, early-onset RCV000320027.1
1269 chr8 102571013 102571013 1 + C T rs34332949 102571015 + 102570995 102571035 41 TCCGGACAGCACATACAGCGAGAGCTTCAAGGACGCAGCCA TCCGGACAGCACATACAGTGAGAGCTTCAAGGACGCAGCCA < 41bp 0.706871369462166 0.463327926298745 0.45370367 0.34798336 prediction 0.413742738924332 Functional Loss - GRHL2 ENSG00000083307 CDS Human protein_coding chr8:102571015 chr8:102571013 synonymous SNV . 0 19 hm1A_associated_SNPs_15639 1 Benign not specified RCV000039464.3
1269 chr1 161293426 161293426 1 + C T LUSC 161293428 + 161293408 161293448 41 GTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCTCAGCT GTTGGTCGTCATTGCCTCTGAGCCCACTTTAGCCCTCAGCT < 41bp 0.834099375485454 0.627513239674028 0.34767112 0.14271834 prediction 0.413172271622853 Functional Loss - SDHC ENSG00000143252 CDS Human protein_coding chr1:161293428 chr1:161293426 stopgain 0.989 0 19 hm1A_associated_SNPs_15699 3 Pathogenic Paragangliomas 3 RCV000034695.2
1269 chr1 161293426 161293426 1 + C T LUSC 161293428 + 161293408 161293448 41 GTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCTCAGCT GTTGGTCGTCATTGCCTCTGAGCCCACTTTAGCCCTCAGCT < 41bp 0.834099375485454 0.627513239674028 0.34767112 0.14271834 prediction 0.413172271622853 Functional Loss - SDHC ENSG00000143252 CDS Human protein_coding chr1:161293428 chr1:161293426 stopgain 0.989 0 19 hm1A_associated_SNPs_15699 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000128874.4
1269 chr1 161293426 161293426 1 + C T LUSC 161293428 + 161293408 161293448 41 GTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCTCAGCT GTTGGTCGTCATTGCCTCTGAGCCCACTTTAGCCCTCAGCT < 41bp 0.834099375485454 0.627513239674028 0.34767112 0.14271834 prediction 0.413172271622853 Functional Loss - SDHC ENSG00000143252 CDS Human protein_coding chr1:161293428 chr1:161293426 stopgain 0.989 0 19 hm1A_associated_SNPs_15699 3 Pathogenic not provided RCV000486068.1
1269 chr12 5154242 5154242 1 + C T rs17215402 5154244 + 5154224 5154264 41 TGGCCCCGCCCTCTGGCCCTACGGTGGCACCGCTCCTGCCC TGGCCCCGCCCTCTGGCCTTACGGTGGCACCGCTCCTGCCC < 41bp 0.78336512373058 0.576864445519117 0.7089663 0.6510589 prediction 0.413001356422925 Functional Loss - KCNA5 ENSG00000130037 CDS Human protein_coding chr12:5154244 chr12:5154242 nonsynonymous SNV 0.017 1 19 hm1A_associated_SNPs_15721 1 Benign not specified RCV000171807.1
1269 chr9 129453334 129453334 1 + C T UCEC 129453336 + 129453316 129453356 41 CAGCTCCGTGAGCCCCGACGAGTCCGACTCCGGTGAGGCCT CAGCTCCGTGAGCCCCGATGAGTCCGACTCCGGTGAGGCCT < 41bp 0.7925156103008 0.586675921753863 0.8051958 0.76775956 prediction 0.411679377093873 Functional Loss - LMX1B ENSG00000136944 CDS Human protein_coding chr9:129453336 chr9:129453334 synonymous SNV . 0 19 hm1A_associated_SNPs_15891 1 Likely benign not specified RCV000243410.1
1269 chrX 10188768 10188768 1 + C T SKCM 10188770 + 10188750 10188790 41 CTTCACGGAGGAACCCCCCGAGCTGCCGGCCAACAGCCCAC CTTCACGGAGGAACCCCCTGAGCTGCCGGCCAACAGCCCAC < 41bp 0.705462805187787 0.450485138716844 0.578194 0.43849123 prediction 0.410925610375575 Functional Loss - CLCN4 ENSG00000073464 CDS Human protein_coding chrX:10188770 chrX:10188768 synonymous SNV . 0 19 hm1A_associated_SNPs_15990 1 Uncertain significance not specified RCV000193033.1
1269 chr3 42728214 42728214 1 + C T rs147863385 42728216 + 42728196 42728236 41 CGTGGCTGGAGGCCTCTTCTACAACGAAGACAACAAAGAGG CGTGGCTGGAGGCCTCTTTTACAACGAAGACAACAAAGAGG < 41bp 0.778944394870425 0.573553981956559 0.2662158 0.20463157 prediction 0.410780825827731 Functional Loss - KLHL40 ENSG00000157119 CDS Human protein_coding chr3:42728216 chr3:42728214 synonymous SNV . 0 19 hm1A_associated_SNPs_16005 1 Benign not specified RCV000250047.2
1269 chr16 23200761 23200761 1 + T C rs5734 23200760 + 23200740 23200780 41 AGAGGCCCTGAAGTCCCTGTATGGCTTTCCAGAGTCCCGGA AGAGGCCCTGAAGTCCCTGTACGGCTTTCCAGAGTCCCGGA < 41bp 0.726048179639281 0.520916283017301 0.2790395 0.38868183 prediction 0.41026379324396 Functional Loss - SCNN1G ENSG00000166828 CDS Human protein_coding chr16:23200760 chr16:23200761 synonymous SNV . 0 22 hm1A_associated_SNPs_16081 3 Benign not specified RCV000151819.2
1269 chr16 23200761 23200761 1 + T C rs5734 23200760 + 23200740 23200780 41 AGAGGCCCTGAAGTCCCTGTATGGCTTTCCAGAGTCCCGGA AGAGGCCCTGAAGTCCCTGTACGGCTTTCCAGAGTCCCGGA < 41bp 0.726048179639281 0.520916283017301 0.2790395 0.38868183 prediction 0.41026379324396 Functional Loss - SCNN1G ENSG00000166828 CDS Human protein_coding chr16:23200760 chr16:23200761 synonymous SNV . 0 22 hm1A_associated_SNPs_16081 3 Benign Pseudohypoaldosteronism, Type I, Recessive RCV000328934.1
1269 chr16 23200761 23200761 1 + T C rs5734 23200760 + 23200740 23200780 41 AGAGGCCCTGAAGTCCCTGTATGGCTTTCCAGAGTCCCGGA AGAGGCCCTGAAGTCCCTGTACGGCTTTCCAGAGTCCCGGA < 41bp 0.726048179639281 0.520916283017301 0.2790395 0.38868183 prediction 0.41026379324396 Functional Loss - SCNN1G ENSG00000166828 CDS Human protein_coding chr16:23200760 chr16:23200761 synonymous SNV . 0 22 hm1A_associated_SNPs_16081 3 Benign Pseudoprimary hyperaldosteronism RCV000383542.1
1269 chr2 98354113 98354113 1 + C T OV 98354115 + 98354095 98354135 41 CAAAGCACTGGGTGCCGACGACAGCTACTACACTGTAAGCC CAAAGCACTGGGTGCCGATGACAGCTACTACACTGTAAGCC < 41bp 0.705047845312893 0.443227788964979 0.31811747 0.23558024 prediction 0.410095690625787 Functional Loss - ZAP70 ENSG00000115085 CDS Human protein_coding chr2:98354115 chr2:98354113 synonymous SNV . 0 19 hm1A_associated_SNPs_16112 1 Likely benign not specified RCV000440355.1
1269 chr22 17578719 17578719 1 + C T LUSC 17578721 + 17578701 17578741 41 GACAGCTGGATTCACCCTCGAAACCTGACCCCCTCCTCCCC GACAGCTGGATTCACCCTTGAAACCTGACCCCCTCCTCCCC < 41bp 0.831289730601364 0.626312141603348 0.34482157 0.18904722 prediction 0.409955177996032 Functional Loss - IL17RA ENSG00000177663 CDS Human protein_coding chr22:17578721 chr22:17578719 stopgain 0.960 0 19 hm1A_associated_SNPs_16128 1 Pathogenic Candidiasis, familial, 5 RCV000412660.1
1269 chr11 124740980 124740980 1 + C T rs35978862 124740982 + 124740962 124741002 41 GAGCGTGGCTTTCCAGTGCGAGACCAAAGGAAACCCCCCAC GAGCGTGGCTTTCCAGTGTGAGACCAAAGGAAACCCCCCAC < 41bp 0.704924083380311 0.446598391372722 0.23532408 0.16570419 prediction 0.409848166760622 Functional Loss - ROBO3 ENSG00000154134 CDS Human protein_coding chr11:124740982 chr11:124740980 synonymous SNV . 0 19 hm1A_associated_SNPs_16147 1 Benign Gaze palsy, familial horizontal, with progressive scoliosis RCV000405418.1
1269 chr20 30419539 30419539 1 + T C rs111888319 30419538 + 30419518 30419558 41 CTCCCCCTTCCTGGGAGATGATGACACAGAGACCCTAAACA CTCCCCCTTCCTGGGAGATGACGACACAGAGACCCTAAACA < 41bp 0.745962802864929 0.541358159458394 0.20018345 0.35053667 prediction 0.409209286813069 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30419538 chr20:30419539 synonymous SNV . 0 22 hm1A_associated_SNPs_16222 2 Benign not specified RCV000154785.2
1269 chr20 30419539 30419539 1 + T C rs111888319 30419538 + 30419518 30419558 41 CTCCCCCTTCCTGGGAGATGATGACACAGAGACCCTAAACA CTCCCCCTTCCTGGGAGATGACGACACAGAGACCCTAAACA < 41bp 0.745962802864929 0.541358159458394 0.20018345 0.35053667 prediction 0.409209286813069 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30419538 chr20:30419539 synonymous SNV . 0 22 hm1A_associated_SNPs_16222 2 Benign Familial hypertrophic cardiomyopathy 1 RCV000461474.1
1269 chr19 11221443 11221443 1 + C A rs13306515 11221445 + 11221425 11221465 41 GGTGGCCCAGCGAAGATGCGAAGGTGATTTCCGGGTGGGAC GGTGGCCCAGCGAAGATGAGAAGGTGATTTCCGGGTGGGAC < 41bp 0.729033281487668 0.524446239112307 0.6131804 0.58818144 prediction 0.409174084750722 Functional Loss - LDLR ENSG00000130164 CDS Human protein_coding chr19:11221445 chr19:11221443 stopgain 0.282 1 19 hm1A_associated_SNPs_16228 1 other Familial hypercholesterolemia RCV000238410.1
1269 chr17 68172397 68172397 1 + T C BRCA 68172396 + 68172376 68172416 41 GTACGGACACGCCCCCTGACATAGACCTTCACAACCAGGCA GTACGGACACGCCCCCTGACACAGACCTTCACAACCAGGCA < 41bp 0.800956355529075 0.596420367053935 0.36481148 0.3105988 prediction 0.40907197695028 Functional Loss - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68172396 chr17:68172397 nonsynonymous SNV 0.991 1 22 hm1A_associated_SNPs_16242 1 Uncertain significance not provided RCV000171668.1
1269 chr16 28912072 28912072 1 + C T UCEC 28912074 + 28912054 28912094 41 TGGCATCTTTGGGGAGAACGAGGAGGTGGCCGATCGCGCCT TGGCATCTTTGGGGAGAATGAGGAGGTGGCCGATCGCGCCT < 41bp 0.816039581897383 0.611620241167972 0.7315332 0.71707284 prediction 0.408838681458822 Functional Loss - ATP2A1 ENSG00000196296 CDS Human protein_coding chr16:28912074 chr16:28912072 synonymous SNV . 0 19 hm1A_associated_SNPs_16276 1 Uncertain significance Brody myopathy RCV000314694.1
1269 chr19 54696167 54696167 1 + C A rs11879943 54696169 + 54696149 54696189 41 TACAGAGACCTGTGGGAGCGAGGCTTCTTCCTCAGTGCGGC TACAGAGACCTGTGGGAGAGAGGCTTCTTCCTCAGTGCGGC < 41bp 0.825145439907792 0.620807513210473 0.35096556 0.2166715 prediction 0.408675853394639 Functional Loss - TSEN34 ENSG00000170892 CDS Human protein_coding chr19:54696169 chr19:54696167 synonymous SNV . 0 19 hm1A_associated_SNPs_16300 2 Benign not specified RCV000147765.3
1269 chr19 54696167 54696167 1 + C A rs11879943 54696169 + 54696149 54696189 41 TACAGAGACCTGTGGGAGCGAGGCTTCTTCCTCAGTGCGGC TACAGAGACCTGTGGGAGAGAGGCTTCTTCCTCAGTGCGGC < 41bp 0.825145439907792 0.620807513210473 0.35096556 0.2166715 prediction 0.408675853394639 Functional Loss - TSEN34 ENSG00000170892 CDS Human protein_coding chr19:54696169 chr19:54696167 synonymous SNV . 0 19 hm1A_associated_SNPs_16300 2 Likely benign Pontoneocerebellar hypoplasia RCV000324822.1
1269 chr10 75676464 75676464 1 + C T rs4065 75676466 + 75676446 75676486 41 CTGTGCCACCCACCAGGGCGAACGACAATAGCTTTACCCTC CTGTGCCACCCACCAGGGTGAACGACAATAGCTTTACCCTC < 41bp 0.704240825563549 0.414722224966136 0.15447801 0.12012565 prediction 0.408481651127097 Functional Loss - PLAU ENSG00000122861 UTR3 Human protein_coding chr10:75676466 chr10:75676464 . . 0 19 hm1A_associated_SNPs_16328 1 Benign Quebec platelet disorder RCV000261471.1
1269 chr12 57963431 57963431 1 + C T COAD 57963433 + 57963413 57963453 41 CCCAGAAGGAGACGATTGCGAAGCTGGAGGCTGAGCTGAGC CCCAGAAGGAGACGATTGTGAAGCTGGAGGCTGAGCTGAGC < 41bp 0.835370130238753 0.631228963998313 0.8269131 0.8233516 prediction 0.40828233248088 Functional Loss - KIF5A ENSG00000155980 CDS Human protein_coding chr12:57963433 chr12:57963431 nonsynonymous SNV 0.521 0 19 hm1A_associated_SNPs_16359 1 Pathogenic Spastic paraplegia 10 RCV000007211.3
1269 chr13 113795258 113795258 1 + C T rs111737184 113795260 + 113795240 113795280 41 GAAGCTCTGCAGCCTGGACAACGGGGACTGTGACCAGTTCT GAAGCTCTGCAGCCTGGATAACGGGGACTGTGACCAGTTCT < 41bp 0.704078691680864 0.465833321579529 0.2761434 0.21456242 prediction 0.408157383361728 Functional Loss - F10 ENSG00000126218 CDS Human protein_coding chr13:113795260 chr13:113795258 synonymous SNV . 0 19 hm1A_associated_SNPs_16382 1 Uncertain significance Factor X deficiency RCV000362718.1
1269 chr2 46611697 46611697 1 + C T rs35795449 46611699 + 46611679 46611719 41 TGAGTCCTACCTGCTGCCCGAACTGACCAGATATGACTGTG TGAGTCCTACCTGCTGCCTGAACTGACCAGATATGACTGTG < 41bp 0.703920811372822 0.387434465092372 0.5530546 0.34126306 prediction 0.407841622745643 Functional Loss - EPAS1 ENSG00000116016 CDS Human protein_coding chr2:46611699 chr2:46611697 synonymous SNV . 0 19 hm1A_associated_SNPs_16425 1 Benign Familial erythrocytosis RCV000378133.1
1269 chr16 55734106 55734106 1 + T C rs3743788 55734105 + 55734085 55734125 41 CACTCACCTACGACGACTACATCTTCCCGCCCTGGGCCAAC CACTCACCTACGACGACTACACCTTCCCGCCCTGGGCCAAC < 41bp 0.811240477971798 0.60742864494053 0.27429056 0.32323384 prediction 0.407623666062537 Functional Loss - SLC6A2 ENSG00000103546 CDS Human protein_coding chr16:55734105 chr16:55734106 nonsynonymous SNV 0.886 0 22 hm1A_associated_SNPs_16449 1 Likely benign Orthostatic intolerance RCV000270081.1
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 other not specified RCV000037223.5
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 Benign Cardiovascular phenotype RCV000248571.1
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 Likely benign Scapuloperoneal weakness RCV000281168.1
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 Likely benign Dilated Cardiomyopathy, Dominant RCV000336268.1
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 Likely benign Myofibrillar Myopathy, Dominant RCV000348859.1
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 Likely benign Myofibrillar myopathy 1 RCV000375457.1
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 Benign Muscular dystrophy, limb-girdle, type 2r RCV000459928.1
1269 chr2 220286064 220286064 1 + C T rs61731508 220286066 + 220286046 220286086 41 TCCCCCTCTCCTGCAGAACGATTCCCTGATGAGGCAGATGC TCCCCCTCTCCTGCAGAATGATTCCCTGATGAGGCAGATGC < 41bp 0.878141828022877 0.674404098404393 0.657137 0.30183667 prediction 0.407475459236968 Functional Loss - DES ENSG00000175084 CDS Human protein_coding chr2:220286066 chr2:220286064 synonymous SNV . 0 19 hm1A_associated_SNPs_16469 8 Benign Myofibrillar myopathy 1 RCV000459928.1
1269 chr19 7593569 7593569 1 + C T CESC 7593571 + 7593551 7593591 41 TGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGT TGCGCCCGCTCACTCCTTTGAGGCTTCCTGCTGCAGAACGT < 41bp 0.703427485050483 0.436556831369011 0.6123936 0.25271267 prediction 0.406854970100966 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7593571 chr19:7593569 stopgain 0.464 1 19 hm1A_associated_SNPs_16550 2 other Ganglioside sialidase deficiency RCV000005440.5
1269 chr19 7593569 7593569 1 + C T CESC 7593571 + 7593551 7593591 41 TGCGCCCGCTCACTCCTTCGAGGCTTCCTGCTGCAGAACGT TGCGCCCGCTCACTCCTTTGAGGCTTCCTGCTGCAGAACGT < 41bp 0.703427485050483 0.436556831369011 0.6123936 0.25271267 prediction 0.406854970100966 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7593571 chr19:7593569 stopgain 0.464 1 19 hm1A_associated_SNPs_16550 2 Pathogenic not provided RCV000479374.1
1269 chr16 84193349 84193349 1 + C T LUSC 84193351 + 84193331 84193371 41 AGAAGGACAGTCACTGTACGACTAAAGCACTTAACATACCT AGAAGGACAGTCACTGTATGACTAAAGCACTTAACATACCT < 41bp 0.703292171803362 0.428926522670671 0.084611386 0.06900549 prediction 0.406584343606724 Functional Loss - DNAAF1 ENSG00000154099 CDS Human protein_coding chr16:84193351 chr16:84193349 stopgain 0.651 1 19 hm1A_associated_SNPs_16586 1 Pathogenic Ciliary dyskinesia, primary, 13 RCV000000288.3
1269 chr2 179320828 179320828 1 + C T CESC 179320830 + 179320810 179320850 41 GAGAGCATCCGAACCACACGACAGTGCTCACTGTCTGTGCA GAGAGCATCCGAACCACATGACAGTGCTCACTGTCTGTGCA < 41bp 0.702621317609777 0.446018941909622 0.5453012 0.36930788 prediction 0.405242635219553 Functional Loss - DFNB59 ENSG00000204311 CDS Human protein_coding chr2:179320830 chr2:179320828 stopgain 0.939 0 19 hm1A_associated_SNPs_16756 2 Pathogenic Deafness, autosomal recessive 59 RCV000001363.2
1269 chr2 179320828 179320828 1 + C T CESC 179320830 + 179320810 179320850 41 GAGAGCATCCGAACCACACGACAGTGCTCACTGTCTGTGCA GAGAGCATCCGAACCACATGACAGTGCTCACTGTCTGTGCA < 41bp 0.702621317609777 0.446018941909622 0.5453012 0.36930788 prediction 0.405242635219553 Functional Loss - DFNB59 ENSG00000204311 CDS Human protein_coding chr2:179320830 chr2:179320828 stopgain 0.939 0 19 hm1A_associated_SNPs_16756 2 Pathogenic Nonsyndromic hearing loss and deafness RCV000223480.1
1269 chr8 74891018 74891018 1 + C T ESCA 74891020 + 74891000 74891040 41 TATTGGGAAGGATATGTTCGATTCTTAAATACGCCATCTGA TATTGGGAAGGATATGTTTGATTCTTAAATACGCCATCTGA < 41bp 0.702370692602857 0.39982962823237 0.76485825 0.11216414 prediction 0.404741385205713 Functional Loss - TMEM70 ENSG00000175606 CDS Human protein_coding chr8:74891020 chr8:74891018 stopgain 0.212 0 19 hm1A_associated_SNPs_16815 1 Pathogenic Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 RCV000023948.3
1269 chr19 45206632 45206632 1 + T C rs202230938 45206631 + 45206611 45206651 41 TTCCTCAGCCACATTCCTGAATGTGGGGGCCGAGATCTCTA TTCCTCAGCCACATTCCTGAACGTGGGGGCCGAGATCTCTA < 41bp 0.755403409499042 0.553261131797013 0.18195319 0.2517143 prediction 0.404284555404058 Functional Loss - CEACAM16 ENSG00000213892 CDS Human protein_coding chr19:45206631 chr19:45206632 synonymous SNV . 0 22 hm1A_associated_SNPs_16865 1 Benign not specified RCV000177109.2
1269 chr4 108870613 108870613 1 + C T SKCM 108870615 + 108870595 108870635 41 GAGGATTTCTACCCTAATCGATTTCTGGATGACCAAGGACA GAGGATTTCTACCCTAATTGATTTCTGGATGACCAAGGACA < 41bp 0.701924934166833 0.387707877036833 0.33478427 0.10289124 prediction 0.403849868333666 Functional Loss - CYP2U1 ENSG00000155016 CDS Human protein_coding chr4:108870615 chr4:108870613 stopgain 1.000 1 19 hm1A_associated_SNPs_16913 1 Likely pathogenic not provided RCV000415839.1
1269 chr5 112164616 112164616 1 + C T COAD 112164618 + 112164598 112164638 41 AATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGC AATAGTAAAAAGACGTTGTGAGAAGTTGGAAGTGTGAAAGC < 41bp 0.701552970467536 0.451128437756591 0.1820657 0.14249942 prediction 0.403105940935073 Functional Loss - APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164618 chr5:112164616 stopgain 0.965 1 19 hm1A_associated_SNPs_17016 2 Pathogenic Familial adenomatous polyposis 1 RCV000000846.4
1269 chr5 112164616 112164616 1 + C T COAD 112164618 + 112164598 112164638 41 AATAGTAAAAAGACGTTGCGAGAAGTTGGAAGTGTGAAAGC AATAGTAAAAAGACGTTGTGAGAAGTTGGAAGTGTGAAAGC < 41bp 0.701552970467536 0.451128437756591 0.1820657 0.14249942 prediction 0.403105940935073 Functional Loss - APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164618 chr5:112164616 stopgain 0.965 1 19 hm1A_associated_SNPs_17016 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000493386.1
1269 chr11 93526946 93526946 1 + C T rs116727804 93526948 + 93526928 93526968 41 AATAAAGAATACAGATCTCGATCTGGATAAAAAGATACCTG AATAAAGAATACAGATCTTGATCTGGATAAAAAGATACCTG < 41bp 0.894885047428424 0.693431153296508 0.18335932 0.048494667 prediction 0.402907788263834 Functional Loss - MED17 ENSG00000042429 CDS Human protein_coding chr11:93526948 chr11:93526946 synonymous SNV . 0 19 hm1A_associated_SNPs_17042 1 Uncertain significance not specified RCV000193193.1
1269 chr7 116166704 116166704 1 + C T rs10029 116166706 + 116166686 116166726 41 CAAGGAGATCGACCTGGTCAACCGCGACCCTAAACACCTCA CAAGGAGATCGACCTGGTTAACCGCGACCCTAAACACCTCA < 41bp 0.842667948764966 0.642379005610329 0.72468805 0.706414 prediction 0.400577886309274 Functional Loss - CAV1 ENSG00000105974 CDS Human protein_coding chr7:116166706 chr7:116166704 synonymous SNV . 0 19 hm1A_associated_SNPs_17363 1 other not specified RCV000116582.4
1269 chr19 7591755 7591755 1 + C T BLCA 7591757 + 7591737 7591777 41 TGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGCCAA TGCCAGCGGTACTACCACTGAGGCCACGTGGACCCGGCCAA < 41bp 0.819066256350753 0.619014670749655 0.75485045 0.6204382 prediction 0.400103171202196 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7591757 chr19:7591755 stopgain 0.430 0 19 hm1A_associated_SNPs_17432 1 other Ganglioside sialidase deficiency RCV000195067.1
1269 chr22 19711765 19711765 1 + C T rs142352780 19711767 + 19711747 19711787 41 CCTGCTGCCCTATCTGGCCGAGGACGAGCTGCGCGCCGCTT CCTGCTGCCCTATCTGGCTGAGGACGAGCTGCGCGCCGCTT < 41bp 0.786205733738426 0.586196193810192 0.7703224 0.7331995 prediction 0.400019079856467 Functional Loss - GP1BB ENSG00000203618 CDS Human protein_coding chr22:19711767 chr22:19711765 synonymous SNV . 0 19 hm1A_associated_SNPs_17446 1 other not specified RCV000247854.2
1269 chr8 11615876 11615876 1 + A C rs7830178 11615878 + 11615858 11615898 41 GGCCCTGAAGCTCTCCCCACAAGGCTATGCGTCTCCCGTCA GGCCCTGAAGCTCTCCCCCCAAGGCTATGCGTCTCCCGTCA < 41bp 0.505487816503508 0.784236577394504 0.32405084 0.44117588 prediction 0.557497521781992 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615878 chr8:11615876 synonymous SNV . 0 19 hm1A_associated_SNPs_17503 1 Benign Atrioventricular septal defect 4 RCV000234038.2
1269 chr1 114442885 114442885 1 + A G rs141417436 114442883 - 114442863 114442903 41 GCAGTAGCCCAGGTGTGGTGATGGGAGCTACCAAACTTTTT GCAGTAGCCCAGGTGTGGCGATGGGAGCTACCAAACTTTTT < 41bp 0.517752107720106 0.78995022926573 0.10160175 0.18679705 prediction 0.544396243091248 Functional Gain - AP4B1 ENSG00000134262 CDS Human protein_coding chr1:114442883 chr1:114442885 nonsynonymous SNV 1.000 2 19 hm1A_associated_SNPs_17549 2 Uncertain significance not specified RCV000425918.1
1269 chr1 114442885 114442885 1 + A G rs141417436 114442883 - 114442863 114442903 41 GCAGTAGCCCAGGTGTGGTGATGGGAGCTACCAAACTTTTT GCAGTAGCCCAGGTGTGGCGATGGGAGCTACCAAACTTTTT < 41bp 0.517752107720106 0.78995022926573 0.10160175 0.18679705 prediction 0.544396243091248 Functional Gain - AP4B1 ENSG00000134262 CDS Human protein_coding chr1:114442883 chr1:114442885 nonsynonymous SNV 1.000 2 19 hm1A_associated_SNPs_17549 2 Uncertain significance Spastic paraplegia 47, autosomal recessive RCV000463656.1
1269 chrX 38260570 38260570 1 + T C rs145777402 38260572 + 38260552 38260592 41 AGTATTGGCTCGAGTGTATAAACAATCAGATTTGGACACCC AGTATTGGCTCGAGTGTACAAACAATCAGATTTGGACACCC < 41bp 0.50954592587378 0.772455535858933 0.1546937 0.19671169 prediction 0.525819219970305 Functional Gain - OTC ENSG00000036473 CDS Human protein_coding chrX:38260572 chrX:38260570 synonymous SNV . 0 19 hm1A_associated_SNPs_17672 1 Benign not specified RCV000242781.2
1269 chr17 45364540 45364540 1 + T C rs5919 45364542 + 45364522 45364562 41 GGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTG GGCAGGCATTGTCCAGCCCAATGACGGGCAGTGTCATGTTG < 41bp 0.572267318753215 0.828956664295591 0.28205004 0.3741455 prediction 0.513378691084754 Functional Gain - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45364542 chr17:45364540 synonymous SNV . 0 19 hm1A_associated_SNPs_17789 2 Benign not specified RCV000252166.1
1269 chr17 45364540 45364540 1 + T C rs5919 45364542 + 45364522 45364562 41 GGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTG GGCAGGCATTGTCCAGCCCAATGACGGGCAGTGTCATGTTG < 41bp 0.572267318753215 0.828956664295591 0.28205004 0.3741455 prediction 0.513378691084754 Functional Gain - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45364542 chr17:45364540 synonymous SNV . 0 19 hm1A_associated_SNPs_17789 2 Benign Glanzmann thrombasthenia RCV000389557.1
1269 chr5 126769146 126769146 1 + T C rs11950427 126769148 + 126769128 126769168 41 TGGGGCTTCATGCTCCCCTGATGATGGCATCTGCGAGTGTG TGGGGCTTCATGCTCCCCCGATGATGGCATCTGCGAGTGTG < 41bp 0.467798253157523 0.753193309441971 0.269616 0.5559399 prediction 0.506386618883942 Functional Gain - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126769148 chr5:126769146 synonymous SNV . 0 19 hm1A_associated_SNPs_17880 2 Benign not specified RCV000242386.2
1269 chr5 126769146 126769146 1 + T C rs11950427 126769148 + 126769128 126769168 41 TGGGGCTTCATGCTCCCCTGATGATGGCATCTGCGAGTGTG TGGGGCTTCATGCTCCCCCGATGATGGCATCTGCGAGTGTG < 41bp 0.467798253157523 0.753193309441971 0.269616 0.5559399 prediction 0.506386618883942 Functional Gain - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126769148 chr5:126769146 synonymous SNV . 0 19 hm1A_associated_SNPs_17880 2 Likely benign Myopathy, areflexia, respiratory distress, and dysphagia, early-onset RCV000386947.1
1269 chr2 190670407 190670407 1 + T C rs2066457 190670409 + 190670389 190670429 41 AACAAGAACGGCTGCTGATAATTTTAGCACCCAGTATGTTT AACAAGAACGGCTGCTGACAATTTTAGCACCCAGTATGTTT < 41bp 0.530241545362292 0.782863435596014 0.11771038 0.12913516 prediction 0.505243780467443 Functional Gain - PMS1 ENSG00000064933 CDS Human protein_coding chr2:190670409 chr2:190670407 synonymous SNV . 0 19 hm1A_associated_SNPs_17906 1 Likely benign Lynch syndrome RCV000383843.1
1269 chr13 33635463 33635463 1 + T C rs648202 33635465 + 33635445 33635485 41 AAAGGACAAAGAGGTGGCTGAGAGAGTTTTGGAATTTGACA AAAGGACAAAGAGGTGGCCGAGAGAGTTTTGGAATTTGACA < 41bp 0.516077180280779 0.768568081268265 0.44900727 0.5842802 prediction 0.504981801974971 Functional Gain - KL ENSG00000133116 CDS Human protein_coding chr13:33635465 chr13:33635463 synonymous SNV . 0 19 hm1A_associated_SNPs_17907 1 Benign Tumoral calcinosis, familial, hyperphosphatemic RCV000294071.1
1269 chr11 126147774 126147774 1 + T C rs77902129 126147776 + 126147756 126147796 41 GCCGAGGCCAATAGCGAGTGATGAGCGGGATCCTAGGACTG GCCGAGGCCAATAGCGAGCGATGAGCGGGATCCTAGGACTG < 41bp 0.533935248801955 0.785709593809061 0.35441607 0.6084746 prediction 0.503548690014213 Functional Gain - FOXRED1 ENSG00000110074 UTR3 Human protein_coding chr11:126147776 chr11:126147774 . . 0 19 hm1A_associated_SNPs_17931 1 Uncertain significance Mitochondrial complex I deficiency RCV000392587.1
1269 chr4 56233758 56233758 1 + A C rs35496669 56233760 + 56233740 56233780 41 TTCTCATTCCTATAGCCTACATAACAGGGAAAAATCTATTG TTCTCATTCCTATAGCCTCCATAACAGGGAAAAATCTATTG < 41bp 0.572489883682975 0.823116590642389 0.109400034 0.77990425 prediction 0.501253413918828 Functional Gain - SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56233760 chr4:56233758 nonsynonymous SNV 0.002 0 19 hm1A_associated_SNPs_17970 2 other not specified RCV000192865.2
1269 chr4 56233758 56233758 1 + A C rs35496669 56233760 + 56233740 56233780 41 TTCTCATTCCTATAGCCTACATAACAGGGAAAAATCTATTG TTCTCATTCCTATAGCCTCCATAACAGGGAAAAATCTATTG < 41bp 0.572489883682975 0.823116590642389 0.109400034 0.77990425 prediction 0.501253413918828 Functional Gain - SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56233760 chr4:56233758 nonsynonymous SNV 0.002 0 19 hm1A_associated_SNPs_17970 2 Uncertain significance Congenital disorder of glycosylation RCV000344054.1
1269 chrX 79283509 79283509 1 + T C rs195293 79283511 + 79283491 79283531 41 GGTGTATTGGATGGGCTTTTAGAGACCTACCCATGGAGGCC GGTGTATTGGATGGGCTTCTAGAGACCTACCCATGGAGGCC < 41bp 0.524833015482921 0.771211093372313 0.114177674 0.116271764 prediction 0.492756155778783 Functional Gain - TBX22 ENSG00000122145 CDS Human protein_coding chrX:79283511 chrX:79283509 synonymous SNV . 0 19 hm1A_associated_SNPs_18141 1 Likely benign Cleft palate X-linked RCV000325138.1
1269 chr17 1680002 1680002 1 + T C rs6828 1680004 + 1679984 1680024 41 CAAGCTGAAGCTGAGTTATGAAGGCGAAGTCACCAAGTCCC CAAGCTGAAGCTGAGTTACGAAGGCGAAGTCACCAAGTCCC < 41bp 0.545385571237926 0.790549595862859 0.36170685 0.55373365 prediction 0.490328049249867 Functional Gain - SERPINF1 ENSG00000132386 CDS Human protein_coding chr17:1680004 chr17:1680002 synonymous SNV . 0 19 hm1A_associated_SNPs_18195 1 Benign Osteogenesis Imperfecta, Recessive RCV000333112.1
1269 chr4 88584378 88584378 1 + A C rs574215585 88584380 + 88584360 88584400 41 AAGATGGCCAGTTGAAAAACATTGAGATAGAGAGCCGGAAA AAGATGGCCAGTTGAAAACCATTGAGATAGAGAGCCGGAAA < 41bp 0.520215376832945 0.764094151590427 0.24948543 0.7510146 prediction 0.487757549514963 Functional Gain - DMP1 ENSG00000152592 CDS Human protein_coding chr4:88584380 chr4:88584378 nonsynonymous SNV 0.002 0 19 hm1A_associated_SNPs_18256 1 Uncertain significance Hypophosphatemic Rickets, Recessive RCV000372193.1
1269 chr8 74893607 74893607 1 + T C rs139864454 74893609 + 74893589 74893629 41 TGAGGCCACAACAGACACTTATAAAGCCATTACCTACAATG TGAGGCCACAACAGACACCTATAAAGCCATTACCTACAATG < 41bp 0.615358904166928 0.858087108382552 0.18180645 0.21668047 prediction 0.485456408431248 Functional Gain - TMEM70 ENSG00000175606 CDS Human protein_coding chr8:74893609 chr8:74893607 synonymous SNV . 0 19 hm1A_associated_SNPs_18309 1 Uncertain significance Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000278414.1
1269 chr9 34500796 34500796 1 + A C rs16931555 34500798 + 34500778 34500818 41 GCCGCTCTGGAAGTTCCAAAATGACAAAGCCAAGCGCCTGT GCCGCTCTGGAAGTTCCACAATGACAAAGCCAAGCGCCTGT < 41bp 0.518677722915006 0.760635772450316 0.1341989 0.13575897 prediction 0.483916099070618 Functional Gain - DNAI1 ENSG00000122735 CDS Human protein_coding chr9:34500798 chr9:34500796 nonsynonymous SNV 0.998 1 19 hm1A_associated_SNPs_18358 2 other Primary ciliary dyskinesia RCV000227513.3
1269 chr9 34500796 34500796 1 + A C rs16931555 34500798 + 34500778 34500818 41 GCCGCTCTGGAAGTTCCAAAATGACAAAGCCAAGCGCCTGT GCCGCTCTGGAAGTTCCACAATGACAAAGCCAAGCGCCTGT < 41bp 0.518677722915006 0.760635772450316 0.1341989 0.13575897 prediction 0.483916099070618 Functional Gain - DNAI1 ENSG00000122735 CDS Human protein_coding chr9:34500798 chr9:34500796 nonsynonymous SNV 0.998 1 19 hm1A_associated_SNPs_18358 2 Benign not specified RCV000243446.1
1269 chr17 7630505 7630505 1 + T C rs11867551 7630507 + 7630487 7630527 41 AGTGTGGACACAGGAGCATGATGCCATTCTGGAACACTTTG AGTGTGGACACAGGAGCACGATGCCATTCTGGAACACTTTG < 41bp 0.527320994125761 0.769155820116263 0.20633468 0.49795556 prediction 0.483669651981004 Functional Gain - DNAH2 ENSG00000183914 CDS Human protein_coding chr17:7630507 chr17:7630505 synonymous SNV . 0 19 hm1A_associated_SNPs_18363 1 Benign not specified RCV000454569.1
1269 chr9 138651621 138651621 1 + C T UVM 138651620 + 138651600 138651640 41 CACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGA CACCTTCTCCACCGTGGGCTATGGTGACGTCACGCCCAAGA < 41bp 0.491811664300425 0.740982115456874 0.32624203 0.32960814 prediction 0.481964230913748 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138651620 chr9:138651621 synonymous SNV . 0 22 hm1A_associated_SNPs_18417 2 Likely benign Early infantile epileptic encephalopathy 14 RCV000473025.1
1269 chr9 138651621 138651621 1 + C T UVM 138651620 + 138651600 138651640 41 CACCTTCTCCACCGTGGGCTACGGTGACGTCACGCCCAAGA CACCTTCTCCACCGTGGGCTATGGTGACGTCACGCCCAAGA < 41bp 0.491811664300425 0.740982115456874 0.32624203 0.32960814 prediction 0.481964230913748 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138651620 chr9:138651621 synonymous SNV . 0 22 hm1A_associated_SNPs_18417 2 Likely benign Epilepsy, nocturnal frontal lobe, 5 RCV000473025.1
1269 chr7 143043267 143043267 1 + C T rs139757692 143043266 + 143043246 143043286 41 TTGCTCTCCACCCCTCTACTACTGCCCCTCTGTCCCCAGAA TTGCTCTCCACCCCTCTACTATTGCCCCTCTGTCCCCAGAA < 41bp 0.477628786614306 0.740207113201547 0.20162037 0.20517966 prediction 0.480414226403093 Functional Gain - CLCN1 ENSG00000188037 CDS Human protein_coding chr7:143043266 chr7:143043267 nonsynonymous SNV 0.002 1 22 hm1A_associated_SNPs_18458 1 Likely benign Myotonia congenita RCV000407398.1
1269 chr16 46731413 46731413 1 + T C rs34343511 46731415 + 46731395 46731435 41 ACATAAACCACAGAAAGATGAAGATCTGACACAGGATTATG ACATAAACCACAGAAAGACGAAGATCTGACACAGGATTATG < 41bp 0.521706627891923 0.761630258139785 0.102844566 0.14462551 prediction 0.479847260495725 Functional Gain - ORC6 ENSG00000091651 CDS Human protein_coding chr16:46731415 chr16:46731413 synonymous SNV . 0 19 hm1A_associated_SNPs_18475 2 Benign not specified RCV000117883.1
1269 chr16 46731413 46731413 1 + T C rs34343511 46731415 + 46731395 46731435 41 ACATAAACCACAGAAAGATGAAGATCTGACACAGGATTATG ACATAAACCACAGAAAGACGAAGATCTGACACAGGATTATG < 41bp 0.521706627891923 0.761630258139785 0.102844566 0.14462551 prediction 0.479847260495725 Functional Gain - ORC6 ENSG00000091651 CDS Human protein_coding chr16:46731415 chr16:46731413 synonymous SNV . 0 19 hm1A_associated_SNPs_18475 2 Likely benign Meier-Gorlin syndrome RCV000259687.1
1269 chr4 6303052 6303052 1 + C T rs35789242 6303051 + 6303031 6303071 41 CCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCC CCCGTGCCTGCTCTATGTCTATCTGCTCTATCTCTTCTTCC < 41bp 0.578047590003866 0.817305016434071 0.33575344 0.4069642 prediction 0.47851485286041 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303051 chr4:6303052 synonymous SNV . 0 22 hm1A_associated_SNPs_18524 3 other not specified RCV000152678.3
1269 chr4 6303052 6303052 1 + C T rs35789242 6303051 + 6303031 6303071 41 CCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCC CCCGTGCCTGCTCTATGTCTATCTGCTCTATCTCTTCTTCC < 41bp 0.578047590003866 0.817305016434071 0.33575344 0.4069642 prediction 0.47851485286041 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303051 chr4:6303052 synonymous SNV . 0 22 hm1A_associated_SNPs_18524 3 Likely benign WFS1-Related Spectrum Disorders RCV000295433.1
1269 chr4 6303052 6303052 1 + C T rs35789242 6303051 + 6303031 6303071 41 CCCGTGCCTGCTCTATGTCTACCTGCTCTATCTCTTCTTCC CCCGTGCCTGCTCTATGTCTATCTGCTCTATCTCTTCTTCC < 41bp 0.578047590003866 0.817305016434071 0.33575344 0.4069642 prediction 0.47851485286041 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303051 chr4:6303052 synonymous SNV . 0 22 hm1A_associated_SNPs_18524 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000389673.1
1269 chr4 39462421 39462421 1 + A C rs140921822 39462423 + 39462403 39462443 41 TCTTTAGGTATTTGGGAGATATTTTTGCAGCCCAGTCAGAC TCTTTAGGTATTTGGGAGCTATTTTTGCAGCCCAGTCAGAC < 41bp 0.562286240749157 0.801077466292581 0.10649255 0.18285775 prediction 0.477582451086848 Functional Gain - LIAS ENSG00000121897 CDS Human protein_coding chr4:39462423 chr4:39462421 nonsynonymous SNV 0.936 0 19 hm1A_associated_SNPs_18561 1 Likely benign not specified RCV000442643.1
1269 chr18 9117867 9117867 1 + T C rs906807 9117869 + 9117849 9117889 41 GGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGA GGAATTTGCATAAGACAGCTATGCAAAATGGAGCTGGAGGA < 41bp 0.591256768360714 0.828639271020839 0.06483343 0.07407093 prediction 0.474765005320249 Functional Gain - NDUFV2 ENSG00000178127 CDS Human protein_coding chr18:9117869 chr18:9117867 nonsynonymous SNV 0.747 0 19 hm1A_associated_SNPs_18644 3 Uncertain significance Parkinson disease, mitochondrial RCV000009621.2
1269 chr18 9117867 9117867 1 + T C rs906807 9117869 + 9117849 9117889 41 GGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGA GGAATTTGCATAAGACAGCTATGCAAAATGGAGCTGGAGGA < 41bp 0.591256768360714 0.828639271020839 0.06483343 0.07407093 prediction 0.474765005320249 Functional Gain - NDUFV2 ENSG00000178127 CDS Human protein_coding chr18:9117869 chr18:9117867 nonsynonymous SNV 0.747 0 19 hm1A_associated_SNPs_18644 3 other not specified RCV000117718.3
1269 chr18 9117867 9117867 1 + T C rs906807 9117869 + 9117849 9117889 41 GGAATTTGCATAAGACAGTTATGCAAAATGGAGCTGGAGGA GGAATTTGCATAAGACAGCTATGCAAAATGGAGCTGGAGGA < 41bp 0.591256768360714 0.828639271020839 0.06483343 0.07407093 prediction 0.474765005320249 Functional Gain - NDUFV2 ENSG00000178127 CDS Human protein_coding chr18:9117869 chr18:9117867 nonsynonymous SNV 0.747 0 19 hm1A_associated_SNPs_18644 3 Benign Mitochondrial complex I deficiency RCV000312272.1
1269 chr1 160093164 160093164 1 + C T UCEC 160093163 + 160093143 160093183 41 TATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGG TATCCTCTGCTTCCTGGCCTATGGCATCCAGGCTGCCATGG < 41bp 0.514912175563076 0.752289907029605 0.30206227 0.287553 prediction 0.474755462933058 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160093163 chr1:160093164 synonymous SNV . 0 22 hm1A_associated_SNPs_18645 3 Uncertain significance Alternating hemiplegia of childhood RCV000321006.1
1269 chr1 160093164 160093164 1 + C T UCEC 160093163 + 160093143 160093183 41 TATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGG TATCCTCTGCTTCCTGGCCTATGGCATCCAGGCTGCCATGG < 41bp 0.514912175563076 0.752289907029605 0.30206227 0.287553 prediction 0.474755462933058 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160093163 chr1:160093164 synonymous SNV . 0 22 hm1A_associated_SNPs_18645 3 Uncertain significance Familial hemiplegic migraine RCV000380349.1
1269 chr1 160093164 160093164 1 + C T UCEC 160093163 + 160093143 160093183 41 TATCCTCTGCTTCCTGGCCTACGGCATCCAGGCTGCCATGG TATCCTCTGCTTCCTGGCCTATGGCATCCAGGCTGCCATGG < 41bp 0.514912175563076 0.752289907029605 0.30206227 0.287553 prediction 0.474755462933058 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160093163 chr1:160093164 synonymous SNV . 0 22 hm1A_associated_SNPs_18645 3 Benign not specified RCV000429036.1
1269 chr1 160098797 160098797 1 + C T KIRC 160098796 + 160098776 160098816 41 CTTTTGACAAACGATCCCCTACGTGGACGGCCCTGTCTCGA CTTTTGACAAACGATCCCCTATGTGGACGGCCCTGTCTCGA < 41bp 0.514347974156471 0.751543027944499 0.44562262 0.402579 prediction 0.474390107576057 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160098796 chr1:160098797 nonsynonymous SNV 0.971 4 22 hm1A_associated_SNPs_18654 1 Pathogenic Familial hemiplegic migraine type 2 RCV000013791.26
1269 chr19 50919693 50919693 1 + C T UCEC 50919692 + 50919672 50919712 41 AGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAG AGCACAGCCTGCCCATTGACATGCAGTACTACCTGGAGCAG < 41bp 0.499630647449251 0.73602520626649 0.28806165 0.25270498 prediction 0.472050412532979 Functional Gain - POLD1 ENSG00000062822;ENSG00000142539 CDS Human other chr19:50919692 chr19:50919693 nonsynonymous SNV 0.993 4 22 hm1A_associated_SNPs_18727 2 Uncertain significance Colorectal cancer 10 RCV000226033.2
1269 chr19 50919693 50919693 1 + C T UCEC 50919692 + 50919672 50919712 41 AGCACAGCCTGCCCATTGACACGCAGTACTACCTGGAGCAG AGCACAGCCTGCCCATTGACATGCAGTACTACCTGGAGCAG < 41bp 0.499630647449251 0.73602520626649 0.28806165 0.25270498 prediction 0.472050412532979 Functional Gain - POLD1 ENSG00000062822;ENSG00000142539 CDS Human other chr19:50919692 chr19:50919693 nonsynonymous SNV 0.993 4 22 hm1A_associated_SNPs_18727 2 Uncertain significance not specified RCV000480742.1
1269 chr4 41270399 41270399 1 + T C rs78683791 41270401 + 41270381 41270421 41 TAAGACCTTGGATGTGGTTTAATTGTTTGTCCTCAAAAGGA TAAGACCTTGGATGTGGTCTAATTGTTTGTCCTCAAAAGGA < 41bp 0.440905102317291 0.7356739565719 0.09101114 0.124660075 prediction 0.471347913143801 Functional Gain - UCHL1 ENSG00000154277 UTR3 Human protein_coding chr4:41270401 chr4:41270399 . . 0 19 hm1A_associated_SNPs_18761 1 Likely benign Parkinson Disease, Dominant RCV000267670.1
1269 chr1 41296876 41296876 1 + T C rs144810195 41296878 + 41296858 41296898 41 AAGCAGCGAGCAGGTGGGTGAGGCCACCAGCCCCACCAAGG AAGCAGCGAGCAGGTGGGCGAGGCCACCAGCCCCACCAAGG < 41bp 0.541364057161951 0.776951019335954 0.18885753 0.27167904 prediction 0.471173924348007 Functional Gain - KCNQ4 ENSG00000117013 CDS Human protein_coding chr1:41296878 chr1:41296876 synonymous SNV . 0 19 hm1A_associated_SNPs_18767 1 Likely benign not specified RCV000216153.1
1269 chr19 54407954 54407954 1 + C T rs34616316 54407953 + 54407933 54407973 41 CATGGAACAAACTGTCACCTACCCCAAGTCGCTTTCCCGGG CATGGAACAAACTGTCACCTATCCCAAGTCGCTTTCCCGGG < 41bp 0.494780492982541 0.735300760879083 0.23027351 0.18521765 prediction 0.470601521758166 Functional Gain - PRKCG ENSG00000126583 CDS Human protein_coding chr19:54407953 chr19:54407954 synonymous SNV . 0 22 hm1A_associated_SNPs_18781 1 Likely benign Spinocerebellar Ataxia, Dominant RCV000263306.1
1269 chr1 43820046 43820046 1 + A C rs142139493 43820048 + 43820028 43820068 41 GCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCC GCTCCTTGAGGGAAAGGACCATGATTTATTTGTCCTTTTCC < 41bp 0.469557897568555 0.734747639176185 0.1216166 0.73685205 prediction 0.469495278352369 Functional Gain - MPL ENSG00000234694 downstream Human antisense chr1:43820048 chr1:43820046 . . 0 19 hm1A_associated_SNPs_18812 2 Likely benign Essential thrombocythemia RCV000335183.1
1269 chr1 43820046 43820046 1 + A C rs142139493 43820048 + 43820028 43820068 41 GCTCCTTGAGGGAAAGGAACATGATTTATTTGTCCTTTTCC GCTCCTTGAGGGAAAGGACCATGATTTATTTGTCCTTTTCC < 41bp 0.469557897568555 0.734747639176185 0.1216166 0.73685205 prediction 0.469495278352369 Functional Gain - MPL ENSG00000234694 downstream Human antisense chr1:43820048 chr1:43820046 . . 0 19 hm1A_associated_SNPs_18812 2 Likely benign Congenital amegakaryocytic thrombocytopenia RCV000373548.1
1269 chr8 11614568 11614568 1 + C T UCEC 11614567 + 11614547 11614587 41 GCCTGGCCTGTCATCTCACTACGGGCACAGCAGCTCCGTGT GCCTGGCCTGTCATCTCACTATGGGCACAGCAGCTCCGTGT < 41bp 0.545726860887136 0.779975395548452 0.2732027 0.2145409 prediction 0.468497069322632 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11614567 chr8:11614568 synonymous SNV . 0 22 hm1A_associated_SNPs_18851 1 Benign Atrioventricular septal defect 4 RCV000461804.1
1269 chr4 56283408 56283408 1 + T C rs145661285 56283410 + 56283390 56283430 41 TGAATTAAAGAAGAAAGATGAAGAAGTAAGCCATGGCACTG TGAATTAAAGAAGAAAGACGAAGAAGTAAGCCATGGCACTG < 41bp 0.479205829842596 0.733507451252703 0.4108877 0.5368975 prediction 0.467014902505405 Functional Gain - TMEM165 ENSG00000134851 CDS Human protein_coding chr4:56283410 chr4:56283408 synonymous SNV . 0 19 hm1A_associated_SNPs_18923 1 Likely benign not specified RCV000421231.1
1269 chr1 3334493 3334493 1 + C T rs59135929 3334492 + 3334472 3334512 41 CCTCCCCCACCACCCCTTCAACTTCCGGTCCCCACCCCCAA CCTCCCCCACCACCCCTTCAATTTCCGGTCCCCACCCCCAA < 41bp 0.506343731013092 0.739582554809563 0.75197893 0.77186465 prediction 0.466477647592942 Functional Gain - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3334492 chr1:3334493 synonymous SNV . 0 22 hm1A_associated_SNPs_18948 2 Benign not specified RCV000219295.2
1269 chr1 3334493 3334493 1 + C T rs59135929 3334492 + 3334472 3334512 41 CCTCCCCCACCACCCCTTCAACTTCCGGTCCCCACCCCCAA CCTCCCCCACCACCCCTTCAATTTCCGGTCCCCACCCCCAA < 41bp 0.506343731013092 0.739582554809563 0.75197893 0.77186465 prediction 0.466477647592942 Functional Gain - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3334492 chr1:3334493 synonymous SNV . 0 22 hm1A_associated_SNPs_18948 2 Benign Left ventricular noncompaction 8 RCV000233639.2
1269 chr1 35250930 35250930 1 + C T rs61732307 35250929 + 35250909 35250949 41 CGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCG CGAGAAGAAAATCTTCACCTATTTCATGGTGGGCGCCTCCG < 41bp 0.557658952583944 0.790330602752206 0.40778935 0.3257044 prediction 0.465343300336525 Functional Gain - GJB3 ENSG00000188910 CDS Human protein_coding chr1:35250929 chr1:35250930 synonymous SNV . 0 22 hm1A_associated_SNPs_18987 3 Benign not specified RCV000155362.3
1269 chr1 35250930 35250930 1 + C T rs61732307 35250929 + 35250909 35250949 41 CGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCG CGAGAAGAAAATCTTCACCTATTTCATGGTGGGCGCCTCCG < 41bp 0.557658952583944 0.790330602752206 0.40778935 0.3257044 prediction 0.465343300336525 Functional Gain - GJB3 ENSG00000188910 CDS Human protein_coding chr1:35250929 chr1:35250930 synonymous SNV . 0 22 hm1A_associated_SNPs_18987 3 Benign Nonsyndromic Hearing Loss, Dominant RCV000342505.1
1269 chr1 35250930 35250930 1 + C T rs61732307 35250929 + 35250909 35250949 41 CGAGAAGAAAATCTTCACCTACTTCATGGTGGGCGCCTCCG CGAGAAGAAAATCTTCACCTATTTCATGGTGGGCGCCTCCG < 41bp 0.557658952583944 0.790330602752206 0.40778935 0.3257044 prediction 0.465343300336525 Functional Gain - GJB3 ENSG00000188910 CDS Human protein_coding chr1:35250929 chr1:35250930 synonymous SNV . 0 22 hm1A_associated_SNPs_18987 3 Benign Erythrokeratodermia variabilis RCV000408065.1
1269 chr4 995305 995305 1 + T C rs6815946 995307 + 995287 995327 41 GAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTG GAACTTCGAGACGTGGAACGAGCCAGACCACCACGACTTTG < 41bp 0.477546460435565 0.732618327665715 0.5772749 0.6797917 prediction 0.46523665533143 Functional Gain - IDUA ENSG00000127415 CDS Human protein_coding chr4:995307 chr4:995305 synonymous SNV . 0 19 hm1A_associated_SNPs_18992 2 Benign not specified RCV000078395.6
1269 chr4 995305 995305 1 + T C rs6815946 995307 + 995287 995327 41 GAACTTCGAGACGTGGAATGAGCCAGACCACCACGACTTTG GAACTTCGAGACGTGGAACGAGCCAGACCACCACGACTTTG < 41bp 0.477546460435565 0.732618327665715 0.5772749 0.6797917 prediction 0.46523665533143 Functional Gain - IDUA ENSG00000127415 CDS Human protein_coding chr4:995307 chr4:995305 synonymous SNV . 0 19 hm1A_associated_SNPs_18992 2 Benign Mucopolysaccharidosis type I RCV000340349.1
1269 chr11 118183445 118183445 1 + T C rs2231444 118183447 + 118183427 118183467 41 AGGCGGTGATGAGGATGATAAAAACATAGGCAGTGATGAGG AGGCGGTGATGAGGATGACAAAAACATAGGCAGTGATGAGG < 41bp 0.517873003565984 0.750428818537848 0.101572365 0.09426454 prediction 0.465111629943728 Functional Gain - CD3E ENSG00000198851 CDS Human protein_coding chr11:118183447 chr11:118183445 synonymous SNV . 0 19 hm1A_associated_SNPs_18999 2 Benign not specified RCV000124173.1
1269 chr11 118183445 118183445 1 + T C rs2231444 118183447 + 118183427 118183467 41 AGGCGGTGATGAGGATGATAAAAACATAGGCAGTGATGAGG AGGCGGTGATGAGGATGACAAAAACATAGGCAGTGATGAGG < 41bp 0.517873003565984 0.750428818537848 0.101572365 0.09426454 prediction 0.465111629943728 Functional Gain - CD3E ENSG00000198851 CDS Human protein_coding chr11:118183447 chr11:118183445 synonymous SNV . 0 19 hm1A_associated_SNPs_18999 2 Likely benign Severe Combined Immune Deficiency RCV000372707.1
1269 chr11 17627547 17627547 1 + C T rs200215464 17627546 + 17627526 17627566 41 TTCTTGCTGCACCGGGGGACACGGCAGGCAGGCCTGGTGGC TTCTTGCTGCACCGGGGGACATGGCAGGCAGGCCTGGTGGC < 41bp 0.546065682714688 0.778116049278983 0.2354581 0.17605537 prediction 0.464100733128591 Functional Gain - OTOG ENSG00000188162 CDS Human protein_coding chr11:17627546 chr11:17627547 nonsynonymous SNV 0.690 0 22 hm1A_associated_SNPs_19039 1 Likely benign not specified RCV000221272.1
1269 chr9 98231084 98231084 1 + T C rs2227970 98231086 + 98231066 98231106 41 GTGCTTCTCAGCAAAAGATGAGAGTGTCCACTTCGTACAGG GTGCTTCTCAGCAAAAGACGAGAGTGTCCACTTCGTACAGG < 41bp 0.600080174943524 0.832093295853564 0.11515108 0.1839244 prediction 0.46402624182008 Functional Gain - PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231086 chr9:98231084 synonymous SNV . 0 19 hm1A_associated_SNPs_19041 4 other Gorlin syndrome RCV000119128.6
1269 chr9 98231084 98231084 1 + T C rs2227970 98231086 + 98231066 98231106 41 GTGCTTCTCAGCAAAAGATGAGAGTGTCCACTTCGTACAGG GTGCTTCTCAGCAAAAGACGAGAGTGTCCACTTCGTACAGG < 41bp 0.600080174943524 0.832093295853564 0.11515108 0.1839244 prediction 0.46402624182008 Functional Gain - PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231086 chr9:98231084 synonymous SNV . 0 19 hm1A_associated_SNPs_19041 4 Benign not specified RCV000241838.1
1269 chr9 98231084 98231084 1 + T C rs2227970 98231086 + 98231066 98231106 41 GTGCTTCTCAGCAAAAGATGAGAGTGTCCACTTCGTACAGG GTGCTTCTCAGCAAAAGACGAGAGTGTCCACTTCGTACAGG < 41bp 0.600080174943524 0.832093295853564 0.11515108 0.1839244 prediction 0.46402624182008 Functional Gain - PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231086 chr9:98231084 synonymous SNV . 0 19 hm1A_associated_SNPs_19041 4 Likely benign Holoprosencephaly RCV000404883.1
1269 chr9 98231084 98231084 1 + T C rs2227970 98231086 + 98231066 98231106 41 GTGCTTCTCAGCAAAAGATGAGAGTGTCCACTTCGTACAGG GTGCTTCTCAGCAAAAGACGAGAGTGTCCACTTCGTACAGG < 41bp 0.600080174943524 0.832093295853564 0.11515108 0.1839244 prediction 0.46402624182008 Functional Gain - PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231086 chr9:98231084 synonymous SNV . 0 19 hm1A_associated_SNPs_19041 4 Benign Hereditary cancer-predisposing syndrome RCV000492364.1
1269 chr10 85973981 85973981 1 + G C BLCA 85973983 + 85973963 85974003 41 CACCTTCTGGCGCAACAAGAAGTCTAACAAGGTCCTGCCAA CACCTTCTGGCGCAACAACAAGTCTAACAAGGTCCTGCCAA < 41bp 0.499646100351737 0.731690629805838 0.25260735 0.22995552 prediction 0.463381259611677 Functional Gain - CDHR1 ENSG00000148600 CDS Human protein_coding chr10:85973983 chr10:85973981 nonsynonymous SNV 1.000 1 19 hm1A_associated_SNPs_19072 1 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000334578.1
1269 chr20 13782197 13782197 1 + T C rs150955045 13782199 + 13782179 13782219 41 TGGAGGCGACACACTCTATGAACTTCGGTGTTCCTTACAGT TGGAGGCGACACACTCTACGAACTTCGGTGTTCCTTACAGT < 41bp 0.581101928795534 0.8118725518788 0.33499944 0.522184 prediction 0.461541246166531 Functional Gain - NDUFAF5 ENSG00000101247 CDS Human protein_coding chr20:13782199 chr20:13782197 synonymous SNV . 0 19 hm1A_associated_SNPs_19162 1 other not specified RCV000179971.3
1269 chr7 143042819 143042819 1 + T C rs73726622 143042821 + 143042801 143042841 41 GTCCTTCGCCTTTGTGGATGAGGATGAGGACGAAGACCTCT GTCCTTCGCCTTTGTGGACGAGGATGAGGACGAAGACCTCT < 41bp 0.507028119079974 0.737144780840272 0.6930269 0.7213658 prediction 0.460233323520597 Functional Gain - CLCN1 ENSG00000188037 CDS Human protein_coding chr7:143042821 chr7:143042819 synonymous SNV . 0 19 hm1A_associated_SNPs_19223 2 Likely benign Myotonia congenita RCV000377997.1
1269 chr7 143042819 143042819 1 + T C rs73726622 143042821 + 143042801 143042841 41 GTCCTTCGCCTTTGTGGATGAGGATGAGGACGAAGACCTCT GTCCTTCGCCTTTGTGGACGAGGATGAGGACGAAGACCTCT < 41bp 0.507028119079974 0.737144780840272 0.6930269 0.7213658 prediction 0.460233323520597 Functional Gain - CLCN1 ENSG00000188037 CDS Human protein_coding chr7:143042821 chr7:143042819 synonymous SNV . 0 19 hm1A_associated_SNPs_19223 2 Benign not specified RCV000430058.1
1269 chr10 95552653 95552653 1 + T C rs1111820 95552655 + 95552635 95552675 41 TCTCTCCTCGAAGGATTTTGATTGCATCATTACAGGTAATG TCTCTCCTCGAAGGATTTCGATTGCATCATTACAGGTAATG < 41bp 0.435964891747653 0.730006375299919 0.1471912 0.38527867 prediction 0.460012750599838 Functional Gain - LGI1 ENSG00000108231 CDS Human protein_coding chr10:95552655 chr10:95552653 synonymous SNV . 0 19 hm1A_associated_SNPs_19232 1 Likely benign Epilepsy, lateral temporal lobe, autosomal dominant RCV000232651.2
1269 chr1 150470061 150470061 1 + C T rs115720584 150470060 + 150470040 150470080 41 AAACTCCCACACTGTTTTCTACGAAGCTCTGGGAACAGTCA AAACTCCCACACTGTTTTCTATGAAGCTCTGGGAACAGTCA < 41bp 0.493416958079353 0.729303018699493 0.27569482 0.25798374 prediction 0.458606037398987 Functional Gain - TARS2 ENSG00000143374 CDS Human protein_coding chr1:150470060 chr1:150470061 nonsynonymous SNV 0.934 2 22 hm1A_associated_SNPs_19298 1 Benign not specified RCV000432236.1
1269 chrX 48546784 48546784 1 + C T UCEC 48546783 + 48546763 48546803 41 CGAGACCTCTAAACTTATCTACGACTTCATTGAGGACCAGG CGAGACCTCTAAACTTATCTATGACTTCATTGAGGACCAGG < 41bp 0.504212747152043 0.732700843987068 0.44671997 0.39559776 prediction 0.45697619367005 Functional Gain - WAS ENSG00000015285 CDS Human protein_coding chrX:48546783 chrX:48546784 synonymous SNV . 0 22 hm1A_associated_SNPs_19370 1 Likely benign not specified RCV000249500.1
1269 chr4 71508031 71508031 1 + C T BLCA 71508030 + 71508010 71508050 41 TGGCCCACTCCCTGCAGTCAACGCTTCAGGCCAGGGAGGGC TGGCCCACTCCCTGCAGTCAATGCTTCAGGCCAGGGAGGGC < 41bp 0.510386239872891 0.73886424763017 0.16107315 0.14216468 prediction 0.456956015514558 Functional Gain - ENAM ENSG00000132464 CDS Human protein_coding chr4:71508030 chr4:71508031 synonymous SNV . 0 22 hm1A_associated_SNPs_19372 1 Uncertain significance Amelogenesis Imperfecta, Dominant RCV000369881.1
1269 chr17 4836381 4836381 1 + C T rs6065 4836380 + 4836360 4836400 41 CCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAG CCCTGCCCCCAGGGCTCCTGATGCCCACACCCAAGCTGGAG < 41bp 0.543351814112206 0.771330175683274 0.24479252 0.19533694 prediction 0.455956723142135 Functional Gain - GP1BA ENSG00000185245 CDS Human protein_coding chr17:4836380 chr17:4836381 nonsynonymous SNV 0.004 0 22 hm1A_associated_SNPs_19429 2 drug response aspirin response - Efficacy RCV000211296.1
1269 chr17 4836381 4836381 1 + C T rs6065 4836380 + 4836360 4836400 41 CCCTGCCCCCAGGGCTCCTGACGCCCACACCCAAGCTGGAG CCCTGCCCCCAGGGCTCCTGATGCCCACACCCAAGCTGGAG < 41bp 0.543351814112206 0.771330175683274 0.24479252 0.19533694 prediction 0.455956723142135 Functional Gain - GP1BA ENSG00000185245 CDS Human protein_coding chr17:4836380 chr17:4836381 nonsynonymous SNV 0.004 0 22 hm1A_associated_SNPs_19429 2 Benign not specified RCV000246607.1
1269 chr10 74692242 74692242 1 + C T rs145480078 74692241 + 74692221 74692261 41 CAGCCGGTCTACAGGGCCAGACGCTAACAGGCGGCCCGATC CAGCCGGTCTACAGGGCCAGATGCTAACAGGCGGCCCGATC < 41bp 0.497279714085345 0.727924143515863 0.7136024 0.71989876 prediction 0.455848287031726 Functional Gain - OIT3 ENSG00000138315 CDS Human protein_coding chr10:74692241 chr10:74692242 nonsynonymous SNV 0.025 1 22 hm1A_associated_SNPs_19433 1 Uncertain significance Malignant tumor of prostate RCV000205640.1
1269 chr20 43057087 43057087 1 + C T SKCM 43057086 + 43057066 43057106 41 AATGCCCACTCACCTCAGCAACGGACAGATGTGTGAGTGGC AATGCCCACTCACCTCAGCAATGGACAGATGTGTGAGTGGC < 41bp 0.494072005597988 0.727471490250544 0.3396191 0.24407929 prediction 0.454942980501089 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43057086 chr20:43057087 synonymous SNV . 0 22 hm1A_associated_SNPs_19483 2 Uncertain significance Hyperinsulinism, Dominant RCV000270831.1
1269 chr20 43057087 43057087 1 + C T SKCM 43057086 + 43057066 43057106 41 AATGCCCACTCACCTCAGCAACGGACAGATGTGTGAGTGGC AATGCCCACTCACCTCAGCAATGGACAGATGTGTGAGTGGC < 41bp 0.494072005597988 0.727471490250544 0.3396191 0.24407929 prediction 0.454942980501089 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43057086 chr20:43057087 synonymous SNV . 0 22 hm1A_associated_SNPs_19483 2 Uncertain significance Maturity-onset diabetes of the young RCV000309520.1
1269 chr12 8988209 8988209 1 + C T rs61734941 8988208 + 8988188 8988228 41 AGGCAATGCTGGGCACCTACACTGTGGCAGTGGCTGAGGGC AGGCAATGCTGGGCACCTACATTGTGGCAGTGGCTGAGGGC < 41bp 0.5094615291093 0.73679543547222 0.21392968 0.20972875 prediction 0.45466781272584 Functional Gain - A2ML1 ENSG00000166535 CDS Human protein_coding chr12:8988208 chr12:8988209 nonsynonymous SNV 0.275 1 22 hm1A_associated_SNPs_19491 1 Benign not specified RCV000233054.2
1269 chr16 30768964 30768964 1 + C T STAD 30768963 + 30768943 30768983 41 TCTTGATGTAGGCTCGGAGGACGTGGATGTGGCCTGCAGGG TCTTGATGTAGGCTCGGAGGATGTGGATGTGGCCTGCAGGG < 41bp 0.498168482008577 0.726877028420104 0.5780393 0.46930718 prediction 0.453754056840208 Functional Gain - CCDC189 ENSG00000196118 CDS Human protein_coding chr16:30768963 chr16:30768964 nonsynonymous SNV 0.002 0 22 hm1A_associated_SNPs_19539 1 Uncertain significance Glycogen phosphorylase kinase deficiency RCV000391407.1
1269 chr15 77323535 77323535 1 + A C rs139362350 77323537 + 77323517 77323557 41 CCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTC CCAGGCCTTTCAGCTGCACGAGTTTGACCGGCTGACCATTC < 41bp 0.548036240867404 0.774742004963886 0.12731141 0.15583938 prediction 0.453411528192965 Functional Gain - PSTPIP1 ENSG00000140368 CDS Human protein_coding chr15:77323537 chr15:77323535 nonsynonymous SNV 0.977 4 19 hm1A_associated_SNPs_19559 2 Benign not specified RCV000236288.1
1269 chr15 77323535 77323535 1 + A C rs139362350 77323537 + 77323517 77323557 41 CCAGGCCTTTCAGCTGCAAGAGTTTGACCGGCTGACCATTC CCAGGCCTTTCAGCTGCACGAGTTTGACCGGCTGACCATTC < 41bp 0.548036240867404 0.774742004963886 0.12731141 0.15583938 prediction 0.453411528192965 Functional Gain - PSTPIP1 ENSG00000140368 CDS Human protein_coding chr15:77323537 chr15:77323535 nonsynonymous SNV 0.977 4 19 hm1A_associated_SNPs_19559 2 Likely benign Pyogenic arthritis, pyoderma gangrenosum and acne RCV000337501.1
1269 chr7 55214348 55214348 1 + C T rs2072454 55214347 + 55214327 55214367 41 CAACAACCCTGCCCTGTGCAACGTGGAGAGCATCCAGTGGC CAACAACCCTGCCCTGTGCAATGTGGAGAGCATCCAGTGGC < 41bp 0.525761814989382 0.751592917347405 0.14281449 0.12007198 prediction 0.451662204716047 Functional Gain - EGFR ENSG00000146648 CDS Human protein_coding chr7:55214347 chr7:55214348 synonymous SNV . 0 22 hm1A_associated_SNPs_19646 2 Benign not specified RCV000253696.1
1269 chr7 55214348 55214348 1 + C T rs2072454 55214347 + 55214327 55214367 41 CAACAACCCTGCCCTGTGCAACGTGGAGAGCATCCAGTGGC CAACAACCCTGCCCTGTGCAATGTGGAGAGCATCCAGTGGC < 41bp 0.525761814989382 0.751592917347405 0.14281449 0.12007198 prediction 0.451662204716047 Functional Gain - EGFR ENSG00000146648 CDS Human protein_coding chr7:55214347 chr7:55214348 synonymous SNV . 0 22 hm1A_associated_SNPs_19646 2 Likely benign Lung cancer RCV000324154.1
1269 chr1 76226846 76226846 1 + A C rs77931234 76226848 + 76226828 76226868 41 CTGGCTGAAATGGCAATGAAAGTTGAACTAGCTAGAATGAG CTGGCTGAAATGGCAATGCAAGTTGAACTAGCTAGAATGAG < 41bp 0.503280979314985 0.728999868214164 0.1932317 0.15403953 prediction 0.451437777798358 Functional Gain - ACADM ENSG00000117054 CDS Human protein_coding chr1:76226848 chr1:76226846 nonsynonymous SNV 1.000 2 19 hm1A_associated_SNPs_19666 1 Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency RCV000211523.1
1269 chr1 41285087 41285087 1 + T C rs4660468 41285089 + 41285069 41285109 41 CTTCCTGGTCTACCTGGCTGAGAAGGACGCCAACTCCGACT CTTCCTGGTCTACCTGGCCGAGAAGGACGCCAACTCCGACT < 41bp 0.556677425569445 0.78152295251861 0.67476565 0.7129697 prediction 0.449691053898331 Functional Gain - KCNQ4 ENSG00000117013 CDS Human protein_coding chr1:41285089 chr1:41285087 synonymous SNV . 0 19 hm1A_associated_SNPs_19784 1 Benign not specified RCV000038247.3
1269 chr17 18023568 18023568 1 + T C rs200532919 18023570 + 18023550 18023590 41 TCTTCCCGCGACCCCAGGTGAAGCTGTTTGGGAAGGAGAAG TCTTCCCGCGACCCCAGGCGAAGCTGTTTGGGAAGGAGAAG < 41bp 0.513800842254763 0.738583132681415 0.37188017 0.50655705 prediction 0.449564580853304 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18023570 chr17:18023568 nonsynonymous SNV 1.000 3 19 hm1A_associated_SNPs_19788 1 Uncertain significance not specified RCV000223359.2
1269 chr2 98354113 98354113 1 + C T OV 98354112 + 98354092 98354132 41 CTCCAAAGCACTGGGTGCCGACGACAGCTACTACACTGTAA CTCCAAAGCACTGGGTGCCGATGACAGCTACTACACTGTAA < 41bp 0.537501981752103 0.761735133258137 0.29136664 0.52257526 prediction 0.448466303012068 Functional Gain - ZAP70 ENSG00000115085 CDS Human protein_coding chr2:98354112 chr2:98354113 synonymous SNV . 0 22 hm1A_associated_SNPs_19846 1 Likely benign not specified RCV000440355.1
1269 chr16 84182715 84182715 1 + C T rs61743547 84182714 + 84182694 84182734 41 GTCAGGTGGTCACTTCGCACACCCAAGAGAAGACAGGGAAG GTCAGGTGGTCACTTCGCACATCCAAGAGAAGACAGGGAAG < 41bp 0.532219508143205 0.756371778921529 0.18381983 0.17829055 prediction 0.448304541556648 Functional Gain - DNAAF1 ENSG00000154099 CDS Human protein_coding chr16:84182714 chr16:84182715 synonymous SNV . 0 22 hm1A_associated_SNPs_19856 2 Benign not specified RCV000150411.2
1269 chr16 84182715 84182715 1 + C T rs61743547 84182714 + 84182694 84182734 41 GTCAGGTGGTCACTTCGCACACCCAAGAGAAGACAGGGAAG GTCAGGTGGTCACTTCGCACATCCAAGAGAAGACAGGGAAG < 41bp 0.532219508143205 0.756371778921529 0.18381983 0.17829055 prediction 0.448304541556648 Functional Gain - DNAAF1 ENSG00000154099 CDS Human protein_coding chr16:84182714 chr16:84182715 synonymous SNV . 0 22 hm1A_associated_SNPs_19856 2 other Primary ciliary dyskinesia RCV000204630.4
1269 chr19 7593589 7593589 1 + C T rs612862 7593588 + 7593568 7593608 41 TCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATG TCGAGGCTTCCTGCTGCAGAATGTGAGGCTTCTGCGTCATG < 41bp 0.492370630428726 0.722675230540291 0.3676803 0.36370534 prediction 0.445350461080581 Functional Gain - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7593588 chr19:7593589 synonymous SNV . 0 22 hm1A_associated_SNPs_20062 2 Benign not specified RCV000254195.1
1269 chr19 7593589 7593589 1 + C T rs612862 7593588 + 7593568 7593608 41 TCGAGGCTTCCTGCTGCAGAACGTGAGGCTTCTGCGTCATG TCGAGGCTTCCTGCTGCAGAATGTGAGGCTTCTGCGTCATG < 41bp 0.492370630428726 0.722675230540291 0.3676803 0.36370534 prediction 0.445350461080581 Functional Gain - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7593588 chr19:7593589 synonymous SNV . 0 22 hm1A_associated_SNPs_20062 2 Likely benign Ganglioside sialidase deficiency RCV000380192.1
1269 chr12 5154893 5154893 1 + C T rs121908591 5154892 + 5154872 5154912 41 ACTACTTCTACCACCGGGAAACGGATCACGAGGAGCCGGCA ACTACTTCTACCACCGGGAAATGGATCACGAGGAGCCGGCA < 41bp 0.510191678848041 0.732561704567613 0.34550923 0.29472035 prediction 0.444740051439143 Functional Gain - KCNA5 ENSG00000130037 CDS Human protein_coding chr12:5154892 chr12:5154893 nonsynonymous SNV 0.999 2 22 hm1A_associated_SNPs_20112 2 Pathogenic Atrial fibrillation, familial, 7 RCV000014412.18
1269 chr12 5154893 5154893 1 + C T rs121908591 5154892 + 5154872 5154912 41 ACTACTTCTACCACCGGGAAACGGATCACGAGGAGCCGGCA ACTACTTCTACCACCGGGAAATGGATCACGAGGAGCCGGCA < 41bp 0.510191678848041 0.732561704567613 0.34550923 0.29472035 prediction 0.444740051439143 Functional Gain - KCNA5 ENSG00000130037 CDS Human protein_coding chr12:5154892 chr12:5154893 nonsynonymous SNV 0.999 2 22 hm1A_associated_SNPs_20112 2 Uncertain significance not specified RCV000295612.1
1269 chr17 61557756 61557756 1 + C T CESC 61557755 + 61557735 61557775 41 CAACTCCCCCACCTTCGAGGACGATCTGGAACACCTCTACC CAACTCCCCCACCTTCGAGGATGATCTGGAACACCTCTACC < 41bp 0.51317395767596 0.734968670914527 0.4217656 0.22301134 prediction 0.443589426477134 Functional Gain - ACE ENSG00000159640 CDS Human protein_coding chr17:61557755 chr17:61557756 synonymous SNV . 0 22 hm1A_associated_SNPs_20176 1 Uncertain significance Renal dysplasia RCV000370295.1
1269 chr15 39880818 39880818 1 + C T rs41338344 39880817 + 39880797 39880837 41 ACGTAGTCGTCTCTGCAACAACCCCACACCCCAGTTTGGAG ACGTAGTCGTCTCTGCAACAATCCCACACCCCAGTTTGGAG < 41bp 0.554385020543243 0.775998675389019 0.17908019 0.2043421 prediction 0.443227309691552 Functional Gain - THBS1 ENSG00000137801 CDS Human protein_coding chr15:39880817 chr15:39880818 synonymous SNV . 0 22 hm1A_associated_SNPs_20205 1 Benign not specified RCV000454658.1
1269 chr3 38524742 38524742 1 + C T rs1046048 38524741 + 38524721 38524761 41 CCTGATTCGGAGGTCGGTCAACGGCACTACCTCGGACTGTC CCTGATTCGGAGGTCGGTCAATGGCACTACCTCGGACTGTC < 41bp 0.502866564196079 0.724285949636468 0.64247227 0.6752644 prediction 0.442838770880777 Functional Gain - ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38524741 chr3:38524742 synonymous SNV . 0 22 hm1A_associated_SNPs_20237 2 Benign not specified RCV000253566.1
1269 chr3 38524742 38524742 1 + C T rs1046048 38524741 + 38524721 38524761 41 CCTGATTCGGAGGTCGGTCAACGGCACTACCTCGGACTGTC CCTGATTCGGAGGTCGGTCAATGGCACTACCTCGGACTGTC < 41bp 0.502866564196079 0.724285949636468 0.64247227 0.6752644 prediction 0.442838770880777 Functional Gain - ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38524741 chr3:38524742 synonymous SNV . 0 22 hm1A_associated_SNPs_20237 2 Benign Heterotaxy syndrome RCV000291591.1
1269 chr5 135388765 135388765 1 + C T COAD 135388764 + 135388744 135388784 41 TAAAGACATCCTAGCCACCAACGGGGTGATCCACTACATTG TAAAGACATCCTAGCCACCAATGGGGTGATCCACTACATTG < 41bp 0.548996390163118 0.769700350324797 0.15128124 0.122668654 prediction 0.441407920323357 Functional Gain - TGFBI ENSG00000120708 CDS Human protein_coding chr5:135388764 chr5:135388765 synonymous SNV . 0 22 hm1A_associated_SNPs_20336 1 Uncertain significance Corneal Dystrophy, Dominant RCV000399285.1
1269 chr15 42682279 42682279 1 + T C rs150356488 42682281 + 42682261 42682301 41 CGACCCCAGAGGCTCAGATGAAAGACCGACCCGGGTGTGTA CGACCCCAGAGGCTCAGACGAAAGACCGACCCGGGTGTGTA < 41bp 0.513914560696282 0.734431536359474 0.41742936 0.4437218 prediction 0.441033951326384 Functional Gain - CAPN3 ENSG00000092529 CDS Human protein_coding chr15:42682281 chr15:42682279 synonymous SNV . 0 19 hm1A_associated_SNPs_20362 1 other not specified RCV000275858.2
1269 chrX 13778273 13778273 1 + T C rs529916753 13778275 + 13778255 13778295 41 GCAATCCAAAGCAGTCTGTGATCGATCGTTCTGTCAATGGA GCAATCCAAAGCAGTCTGCGATCGATCGTTCTGTCAATGGA < 41bp 0.623829920099414 0.844287598597904 0.21897891 0.48721758 prediction 0.440915356996979 Functional Gain - OFD1 ENSG00000046651 CDS Human protein_coding chrX:13778275 chrX:13778273 nonsynonymous SNV 0.892 2 19 hm1A_associated_SNPs_20370 2 Benign Joubert syndrome RCV000462916.1
1269 chrX 13778273 13778273 1 + T C rs529916753 13778275 + 13778255 13778295 41 GCAATCCAAAGCAGTCTGTGATCGATCGTTCTGTCAATGGA GCAATCCAAAGCAGTCTGCGATCGATCGTTCTGTCAATGGA < 41bp 0.623829920099414 0.844287598597904 0.21897891 0.48721758 prediction 0.440915356996979 Functional Gain - OFD1 ENSG00000046651 CDS Human protein_coding chrX:13778275 chrX:13778273 nonsynonymous SNV 0.892 2 19 hm1A_associated_SNPs_20370 2 Benign Oral-facial-digital syndrome RCV000462916.1
1269 chr3 128622968 128622968 1 + T C rs141874052 128622970 + 128622950 128622990 41 GGCTCAGTGAATTTGGATTGATTCAGGTACCAATGGTTGAG GGCTCAGTGAATTTGGATCGATTCAGGTACCAATGGTTGAG < 41bp 0.408268920420377 0.720291230757432 0.07046911 0.6147465 prediction 0.440582461514863 Functional Gain - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128622970 chr3:128622968 nonsynonymous SNV 0.236 3 19 hm1A_associated_SNPs_20393 1 Uncertain significance not specified RCV000199017.3
1269 chr19 11224068 11224068 1 + C T STAD 11224067 + 11224047 11224087 41 GGAACGTGGTCGCTCTGGACACGGAGGTGGCCAGCAATAGA GGAACGTGGTCGCTCTGGACATGGAGGTGGCCAGCAATAGA < 41bp 0.555043317225867 0.775115242998626 0.21694893 0.19238573 prediction 0.440143851545518 Functional Gain - LDLR ENSG00000130164 CDS Human protein_coding chr19:11224067 chr19:11224068 nonsynonymous SNV 0.969 1 22 hm1A_associated_SNPs_20418 1 other Familial hypercholesterolemia RCV000237891.1
1269 chr17 73738664 73738664 1 + C T COAD 73738663 + 73738643 73738683 41 ACCTCCGAACCCCCACCCAGACGCCCGGGGCATGGTGGAGT ACCTCCGAACCCCCACCCAGATGCCCGGGGCATGGTGGAGT < 41bp 0.530204056315355 0.749509454151178 0.69996494 0.6202552 prediction 0.438610795671647 Functional Gain - ITGB4 ENSG00000132470 CDS Human protein_coding chr17:73738663 chr17:73738664 synonymous SNV . 0 22 hm1A_associated_SNPs_20533 1 Uncertain significance Epidermolysis bullosa junctionalis with pyloric atresia RCV000277812.1
1269 chr6 31937511 31937511 1 + T C rs2075702 31937513 + 31937493 31937533 41 ATGCCCCATGTAAAAACATGATGATAAAACAGCAAAGCACT ATGCCCCATGTAAAAACACGATGATAAAACAGCAAAGCACT < 41bp 0.550359855096933 0.76960648628414 0.14358613 0.29496938 prediction 0.438493262374412 Functional Gain - SKIV2L ENSG00000204351 UTR3 Human protein_coding chr6:31937513 chr6:31937511 . . 0 19 hm1A_associated_SNPs_20542 1 Likely benign Trichohepatoenteric syndrome RCV000294596.1
1269 chr19 50910248 50910248 1 + C T rs371647100 50910247 + 50910227 50910267 41 TGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCC TGCCCATCCCCAGAATGGGAATGACCAGACCCGCCGCCGCC < 41bp 0.515581530605133 0.734798100581269 0.32713926 0.20688164 prediction 0.438433139952274 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910247 chr19:50910248 synonymous SNV . 0 22 hm1A_associated_SNPs_20552 2 Benign Colorectal cancer 10 RCV000229903.2
1269 chr19 50910248 50910248 1 + C T rs371647100 50910247 + 50910227 50910267 41 TGCCCATCCCCAGAATGGGAACGACCAGACCCGCCGCCGCC TGCCCATCCCCAGAATGGGAATGACCAGACCCGCCGCCGCC < 41bp 0.515581530605133 0.734798100581269 0.32713926 0.20688164 prediction 0.438433139952274 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910247 chr19:50910248 synonymous SNV . 0 22 hm1A_associated_SNPs_20552 2 Likely benign not specified RCV000420407.1
1269 chr1 236902765 236902765 1 + C T STAD 236902764 + 236902744 236902784 41 AGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGG AGCTGGAGATCAACTTCAACATGCTGCAGACCAAGCTGCGG < 41bp 0.517497191272007 0.736255307835009 0.24483785 0.24179733 prediction 0.437516233126005 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236902764 chr1:236902765 nonsynonymous SNV 0.993 4 22 hm1A_associated_SNPs_20628 4 Uncertain significance not specified RCV000155763.1
1269 chr1 236902765 236902765 1 + C T STAD 236902764 + 236902744 236902784 41 AGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGG AGCTGGAGATCAACTTCAACATGCTGCAGACCAAGCTGCGG < 41bp 0.517497191272007 0.736255307835009 0.24483785 0.24179733 prediction 0.437516233126005 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236902764 chr1:236902765 nonsynonymous SNV 0.993 4 22 hm1A_associated_SNPs_20628 4 Uncertain significance not provided RCV000171859.1
1269 chr1 236902765 236902765 1 + C T STAD 236902764 + 236902744 236902784 41 AGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGG AGCTGGAGATCAACTTCAACATGCTGCAGACCAAGCTGCGG < 41bp 0.517497191272007 0.736255307835009 0.24483785 0.24179733 prediction 0.437516233126005 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236902764 chr1:236902765 nonsynonymous SNV 0.993 4 22 hm1A_associated_SNPs_20628 4 Uncertain significance Hypertrophic cardiomyopathy RCV000415429.1
1269 chr1 236902765 236902765 1 + C T STAD 236902764 + 236902744 236902784 41 AGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGG AGCTGGAGATCAACTTCAACATGCTGCAGACCAAGCTGCGG < 41bp 0.517497191272007 0.736255307835009 0.24483785 0.24179733 prediction 0.437516233126005 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236902764 chr1:236902765 nonsynonymous SNV 0.993 4 22 hm1A_associated_SNPs_20628 4 Uncertain significance Syncope RCV000415429.1
1269 chr16 28906225 28906225 1 + C T rs138880727 28906224 + 28906204 28906244 41 AGAAGATGAATGTGTTCAACACGGATGTGAGAAGCCTCTCG AGAAGATGAATGTGTTCAACATGGATGTGAGAAGCCTCTCG < 41bp 0.54938422758424 0.768070302519136 0.08924681 0.086131185 prediction 0.437372149869792 Functional Gain - ATP2A1 ENSG00000196296 CDS Human protein_coding chr16:28906224 chr16:28906225 nonsynonymous SNV 0.987 2 22 hm1A_associated_SNPs_20641 1 Uncertain significance not specified RCV000425443.1
1269 chr14 74729425 74729425 1 + A C rs11848458 74729427 + 74729407 74729447 41 AAGATACAAGTAAGAATAAAATTGACTTAAAAATAGTAGGG AAGATACAAGTAAGAATACAATTGACTTAAAAATAGTAGGG < 41bp 0.467243308494197 0.716211642963333 0.07713482 0.10326803 prediction 0.432423285926667 Functional Gain - VSX2 ENSG00000119614 UTR3 Human protein_coding chr14:74729427 chr14:74729425 . . 0 19 hm1A_associated_SNPs_21025 2 Likely benign VSX2-related Microphthalmia RCV000268739.1
1269 chr14 74729425 74729425 1 + A C rs11848458 74729427 + 74729407 74729447 41 AAGATACAAGTAAGAATAAAATTGACTTAAAAATAGTAGGG AAGATACAAGTAAGAATACAATTGACTTAAAAATAGTAGGG < 41bp 0.467243308494197 0.716211642963333 0.07713482 0.10326803 prediction 0.432423285926667 Functional Gain - VSX2 ENSG00000119614 UTR3 Human protein_coding chr14:74729427 chr14:74729425 . . 0 19 hm1A_associated_SNPs_21025 2 Likely benign Microphthalmia, isolated 6 RCV000363383.1
1269 chr13 39454696 39454696 1 + A C rs549071375 39454698 + 39454678 39454718 41 CCATGGGAGAGCACCTCCAGATGGCATCCTCCCCTGGGAGC CCATGGGAGAGCACCTCCCGATGGCATCCTCCCCTGGGAGC < 41bp 0.456043820897255 0.715632236532198 0.17138162 0.34512013 prediction 0.431264473064395 Functional Gain - FREM2 ENSG00000150893 CDS Human protein_coding chr13:39454698 chr13:39454696 synonymous SNV . 0 19 hm1A_associated_SNPs_21111 1 Uncertain significance Cryptophthalmos syndrome RCV000351308.1
1269 chr9 131670919 131670919 1 + T C rs3750319 131670921 + 131670901 131670941 41 CGCGCTGGCCTTCCTGCGTGAGAACCTGCGGGCGCTGCACA CGCGCTGGCCTTCCTGCGCGAGAACCTGCGGGCGCTGCACA < 41bp 0.614710644344414 0.829973583398565 0.6733217 0.6779213 prediction 0.430525878108301 Functional Gain - LRRC8A ENSG00000136802 CDS Human protein_coding chr9:131670921 chr9:131670919 synonymous SNV . 0 19 hm1A_associated_SNPs_21180 1 Benign not specified RCV000455788.1
1269 chr1 26142253 26142253 1 + G T rs116931343 26142252 + 26142232 26142272 41 CACAGGCCCCCACGCCTCAGAGCCAGAGTGGTCCTCAGCCC CACAGGCCCCCACGCCTCAGATCCAGAGTGGTCCTCAGCCC < 41bp 0.474000443845012 0.71504211534952 0.23860678 0.23834354 prediction 0.43008423069904 Functional Gain - SELENON ENSG00000162430 UTR3 Human protein_coding chr1:26142252 chr1:26142253 . . 0 22 hm1A_associated_SNPs_21211 1 Likely benign not specified RCV000252956.1
1269 chr22 45691467 45691467 1 + C T GBM 45691466 + 45691446 45691486 41 TGGGGAGTTCTGATGGGGAAACGACTCACGACTCCCAAATC TGGGGAGTTCTGATGGGGAAATGACTCACGACTCCCAAATC < 41bp 0.55681565596871 0.771772261441067 0.14611536 0.13767084 prediction 0.429913210944716 Functional Gain - UPK3A ENSG00000100373 CDS Human protein_coding chr22:45691466 chr22:45691467 nonsynonymous SNV 0.522 0 22 hm1A_associated_SNPs_21228 1 Uncertain significance Renal adysplasia RCV000284484.1
1269 chr2 27317385 27317385 1 + C T LUSC 27317384 + 27317364 27317404 41 CGCCGCTATTCTGTGGACCTACGCTACACAGTCTTTCAGAC CGCCGCTATTCTGTGGACCTATGCTACACAGTCTTTCAGAC < 41bp 0.544142311144666 0.758856064439591 0.36296186 0.27994025 prediction 0.42942750658985 Functional Gain - KHK ENSG00000138030 CDS Human protein_coding chr2:27317384 chr2:27317385 nonsynonymous SNV 0.178 0 22 hm1A_associated_SNPs_21265 1 Uncertain significance Fructosuria, essential RCV000278495.1
1269 chr19 41920030 41920030 1 + C T rs34442879 41920029 + 41920009 41920049 41 GTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAG GTGCCGCCGCCCTGGACAACATGGACCTGGTGTTTGGCCAG < 41bp 0.602044849459624 0.816353428684981 0.51515704 0.5047984 prediction 0.428617158450714 Functional Gain - BCKDHA ENSG00000248098;ENSG00000255730 CDS Human other chr19:41920029 chr19:41920030 nonsynonymous SNV 0.969 4 22 hm1A_associated_SNPs_21337 2 other not specified RCV000079243.6
1269 chr19 41920030 41920030 1 + C T rs34442879 41920029 + 41920009 41920049 41 GTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCAG GTGCCGCCGCCCTGGACAACATGGACCTGGTGTTTGGCCAG < 41bp 0.602044849459624 0.816353428684981 0.51515704 0.5047984 prediction 0.428617158450714 Functional Gain - BCKDHA ENSG00000248098;ENSG00000255730 CDS Human other chr19:41920029 chr19:41920030 nonsynonymous SNV 0.969 4 22 hm1A_associated_SNPs_21337 2 Likely benign Maple syrup urine disease RCV000295914.1
1269 chr1 15767012 15767012 1 + C T rs77373944 15767011 + 15766991 15767031 41 CTCCCTCCAGTACCTCAAGAACGACACGTGGAGGCATACGT CTCCCTCCAGTACCTCAAGAATGACACGTGGAGGCATACGT < 41bp 0.537109838560922 0.751229411562467 0.19996148 0.15562075 prediction 0.428239146003089 Functional Gain - CTRC ENSG00000162438 CDS Human protein_coding chr1:15767011 chr1:15767012 synonymous SNV . 0 22 hm1A_associated_SNPs_21371 1 other Hereditary pancreatitis RCV000265702.1
1269 chr4 995868 995868 1 + C T rs114806891 995867 + 995847 995887 41 CGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGG CGCGGACACCCCCATTTACAATGACGAGGCGGACCCGCTGG < 41bp 0.610843843913332 0.824255497418772 0.59335166 0.55734104 prediction 0.426823307010881 Functional Gain - IDUA ENSG00000127415 CDS Human protein_coding chr4:995867 chr4:995868 stopgain . 0 22 hm1A_associated_SNPs_21509 2 Benign not specified RCV000078399.4
1269 chr4 995868 995868 1 + C T rs114806891 995867 + 995847 995887 41 CGCGGACACCCCCATTTACAACGACGAGGCGGACCCGCTGG CGCGGACACCCCCATTTACAATGACGAGGCGGACCCGCTGG < 41bp 0.610843843913332 0.824255497418772 0.59335166 0.55734104 prediction 0.426823307010881 Functional Gain - IDUA ENSG00000127415 CDS Human protein_coding chr4:995867 chr4:995868 stopgain . 0 22 hm1A_associated_SNPs_21509 2 Likely benign Mucopolysaccharidosis type I RCV000262223.1
1269 chr17 8222870 8222870 1 + C T rs79993581 8222869 + 8222849 8222889 41 GCACCTGCCAAGACTGAAGGACGGAGTCTGGAGTCCAGGGC GCACCTGCCAAGACTGAAGGATGGAGTCTGGAGTCCAGGGC < 41bp 0.501321738893113 0.713151808735419 0.2665363 0.24709314 prediction 0.423660139684613 Functional Gain - ARHGEF15 ENSG00000198844 CDS Human protein_coding chr17:8222869 chr17:8222870 nonsynonymous SNV 0.122 2 22 hm1A_associated_SNPs_21788 1 Benign Early infantile epileptic encephalopathy RCV000229905.2
1269 chr1 110170866 110170866 1 + C T rs114727970 110170865 + 110170845 110170885 41 GAGCATGAATCTCACGGCCTACGACCTGAGTGTGGACACGC GAGCATGAATCTCACGGCCTATGACCTGAGTGTGGACACGC < 41bp 0.596116014636803 0.807621688587735 0.4989433 0.4939962 prediction 0.423011347901865 Functional Gain - AMPD2 ENSG00000116337 CDS Human protein_coding chr1:110170865 chr1:110170866 synonymous SNV . 0 22 hm1A_associated_SNPs_21851 1 Uncertain significance not specified RCV000192657.1
1269 chr17 40695296 40695296 1 + C T UCEC 40695295 + 40695275 40695315 41 TGGAGCCCTAGAGGCTGTGAACGGAGGCCCAGAAGCTGCCC TGGAGCCCTAGAGGCTGTGAATGGAGGCCCAGAAGCTGCCC < 41bp 0.567616392857247 0.779070989058918 0.46392477 0.34728435 prediction 0.422909192403342 Functional Gain - NAGLU ENSG00000108784 CDS Human protein_coding chr17:40695295 chr17:40695296 synonymous SNV . 0 22 hm1A_associated_SNPs_21864 1 Uncertain significance Sanfilippo syndrome RCV000297983.1
1269 chr22 41922431 41922431 1 + G A MESO 41922432 - 41922412 41922452 41 AGTAGCGGGCAGTGTCAGGGACGGGGCCAAACTCCTGAGTG AGTAGCGGGCAGTGTCAGGGATGGGGCCAAACTCCTGAGTG < 41bp 0.544628756762196 0.755553743977725 0.2692784 0.24481618 prediction 0.421849974431057 Functional Gain - ACO2 ENSG00000100412 CDS Human protein_coding chr22:41922432 chr22:41922431 nonsynonymous SNV 0.997 2 22 hm1A_associated_SNPs_21982 1 Uncertain significance not provided RCV000054663.1
1269 chr12 9013755 9013755 1 + C T rs1860967 9013754 + 9013734 9013774 41 CCAATGGTGAGTCAGGGTCTACGGTGTCTCAAGAATTCGGC CCAATGGTGAGTCAGGGTCTATGGTGTCTCAAGAATTCGGC < 41bp 0.469693920266875 0.710779293934287 0.29361424 0.22511241 prediction 0.421558587868573 Functional Gain - A2ML1 ENSG00000166535 CDS Human protein_coding chr12:9013754 chr12:9013755 nonsynonymous SNV 0.012 0 22 hm1A_associated_SNPs_22005 1 Benign not specified RCV000424570.1
1269 chr15 73023937 73023937 1 + T C rs12914333 73023939 + 73023919 73023959 41 CAACTACTTGGCACCCTTTGATTGGAAGATTCTGTATAATT CAACTACTTGGCACCCTTCGATTGGAAGATTCTGTATAATT < 41bp 0.683671364548773 0.894238656911431 0.2169925 0.6826449 prediction 0.421134584725315 Functional Gain - BBS4 ENSG00000140463 CDS Human protein_coding chr15:73023939 chr15:73023937 synonymous SNV . 0 19 hm1A_associated_SNPs_22052 1 Benign not specified RCV000152839.3
1269 chr11 2790114 2790114 1 + C T UCEC 2790113 + 2790093 2790133 41 GCCACCATTAAGGTCATTCGACGCATGCAGTACTTTGTGGC GCCACCATTAAGGTCATTCGATGCATGCAGTACTTTGTGGC < 41bp 0.467147905016964 0.710512796404479 0.26311958 0.36176425 prediction 0.421025592808959 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2790113 chr11:2790114 nonsynonymous SNV 0.980 5 22 hm1A_associated_SNPs_22066 2 not provided Congenital long QT syndrome RCV000057595.3
1269 chr11 2790114 2790114 1 + C T UCEC 2790113 + 2790093 2790133 41 GCCACCATTAAGGTCATTCGACGCATGCAGTACTTTGTGGC GCCACCATTAAGGTCATTCGATGCATGCAGTACTTTGTGGC < 41bp 0.467147905016964 0.710512796404479 0.26311958 0.36176425 prediction 0.421025592808959 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2790113 chr11:2790114 nonsynonymous SNV 0.980 5 22 hm1A_associated_SNPs_22066 2 Uncertain significance not specified RCV000454758.1
1269 chr3 9726588 9726588 1 + C T rs183134138 9726587 + 9726567 9726607 41 TCCAGGATGGGCTCATCCACACGTCCCTGAAGCCCACTGAG TCCAGGATGGGCTCATCCACATGTCCCTGAAGCCCACTGAG < 41bp 0.602973837812591 0.81310616539253 0.14856747 0.12319195 prediction 0.420264655159877 Functional Gain - MTMR14 ENSG00000163719 CDS Human protein_coding chr3:9726587 chr3:9726588 nonsynonymous SNV 0.884 3 22 hm1A_associated_SNPs_22151 1 Likely benign not specified RCV000174402.1
1269 chr11 281612 281612 1 + C T UCEC 281611 + 281591 281631 41 GGAGTTGCTGTACTGCCTGTACGAGACGCAGGAGGACGCGT GGAGTTGCTGTACTGCCTGTATGAGACGCAGGAGGACGCGT < 41bp 0.495648669483594 0.710080613395462 0.5225044 0.38509533 prediction 0.420161226790925 Functional Gain - NLRP6 ENSG00000174885 CDS Human protein_coding chr11:281611 chr11:281612 synonymous SNV . 0 22 hm1A_associated_SNPs_22163 1 not provided not provided RCV000089492.1
1269 chr16 55519535 55519535 1 + G C rs1132896 55519537 + 55519517 55519557 41 GGTCCGTGTGAAGTATGGGAACGCCGATGGGGAGTACTGCA GGTCCGTGTGAAGTATGGCAACGCCGATGGGGAGTACTGCA < 41bp 0.511120138104508 0.720960786486083 0.28179735 0.29346335 prediction 0.41968129676315 Functional Gain - MMP2 ENSG00000087245 CDS Human protein_coding chr16:55519537 chr16:55519535 synonymous SNV . 0 19 hm1A_associated_SNPs_22214 1 Benign Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000272814.1
1269 chr10 75673879 75673879 1 + C T rs2227568 75673878 + 75673858 75673898 41 TGACACGCTTGCTCACCACAACGACATTGGTGAGGGGGAAC TGACACGCTTGCTCACCACAATGACATTGGTGAGGGGGAAC < 41bp 0.560226830242378 0.769533453049115 0.31614852 0.27411562 prediction 0.418613245613475 Functional Gain - PLAU ENSG00000122861 CDS Human protein_coding chr10:75673878 chr10:75673879 synonymous SNV . 0 22 hm1A_associated_SNPs_22330 1 Benign Quebec platelet disorder RCV000393582.1
1269 chr16 46732079 46732079 1 + A C rs570114406 46732081 + 46732061 46732101 41 AGAGCGAGACTTATAGATAGATAGATAGATAGATGGATAGA AGAGCGAGACTTATAGATCGATAGATAGATAGATGGATAGA < 41bp 0.542529805192333 0.751741747549476 0.16716614 0.7046399 prediction 0.418423884714286 Functional Gain - ORC6 ENSG00000091651 UTR3 Human protein_coding chr16:46732081 chr16:46732079 . . 0 19 hm1A_associated_SNPs_22346 1 Uncertain significance Meier-Gorlin syndrome RCV000350954.1
1269 chr11 2593279 2593279 1 + C T rs28730754 2593278 + 2593258 2593298 41 GCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCA GCAGATCCTGAGGATGCTACATGTCGACCGCCAGGGAGGCA < 41bp 0.479655715658373 0.708702997985768 0.40638006 0.35454565 prediction 0.417405995971536 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2593278 chr11:2593279 synonymous SNV . 0 22 hm1A_associated_SNPs_22455 7 Benign not specified RCV000035349.2
1269 chr11 2593279 2593279 1 + C T rs28730754 2593278 + 2593258 2593298 41 GCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCA GCAGATCCTGAGGATGCTACATGTCGACCGCCAGGGAGGCA < 41bp 0.479655715658373 0.708702997985768 0.40638006 0.35454565 prediction 0.417405995971536 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2593278 chr11:2593279 synonymous SNV . 0 22 hm1A_associated_SNPs_22455 7 other Long QT syndrome RCV000204862.3
1269 chr11 2593279 2593279 1 + C T rs28730754 2593278 + 2593258 2593298 41 GCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCA GCAGATCCTGAGGATGCTACATGTCGACCGCCAGGGAGGCA < 41bp 0.479655715658373 0.708702997985768 0.40638006 0.35454565 prediction 0.417405995971536 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2593278 chr11:2593279 synonymous SNV . 0 22 hm1A_associated_SNPs_22455 7 Likely benign Cardiovascular phenotype RCV000250450.1
1269 chr11 2593279 2593279 1 + C T rs28730754 2593278 + 2593258 2593298 41 GCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCA GCAGATCCTGAGGATGCTACATGTCGACCGCCAGGGAGGCA < 41bp 0.479655715658373 0.708702997985768 0.40638006 0.35454565 prediction 0.417405995971536 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2593278 chr11:2593279 synonymous SNV . 0 22 hm1A_associated_SNPs_22455 7 Likely benign short QT syndrome RCV000308709.1
1269 chr11 2593279 2593279 1 + C T rs28730754 2593278 + 2593258 2593298 41 GCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCA GCAGATCCTGAGGATGCTACATGTCGACCGCCAGGGAGGCA < 41bp 0.479655715658373 0.708702997985768 0.40638006 0.35454565 prediction 0.417405995971536 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2593278 chr11:2593279 synonymous SNV . 0 22 hm1A_associated_SNPs_22455 7 Likely benign Familial atrial fibrillation RCV000312089.1
1269 chr11 2593279 2593279 1 + C T rs28730754 2593278 + 2593258 2593298 41 GCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCA GCAGATCCTGAGGATGCTACATGTCGACCGCCAGGGAGGCA < 41bp 0.479655715658373 0.708702997985768 0.40638006 0.35454565 prediction 0.417405995971536 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2593278 chr11:2593279 synonymous SNV . 0 22 hm1A_associated_SNPs_22455 7 Likely benign Jervell and Lange-Nielsen syndrome RCV000395472.1
1269 chr11 2593279 2593279 1 + C T rs28730754 2593278 + 2593258 2593298 41 GCAGATCCTGAGGATGCTACACGTCGACCGCCAGGGAGGCA GCAGATCCTGAGGATGCTACATGTCGACCGCCAGGGAGGCA < 41bp 0.479655715658373 0.708702997985768 0.40638006 0.35454565 prediction 0.417405995971536 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2593278 chr11:2593279 synonymous SNV . 0 22 hm1A_associated_SNPs_22455 7 Likely benign Romano-Ward syndrome RCV000395487.1
1269 chr1 236906323 236906323 1 + C T COAD 236906322 + 236906302 236906342 41 AGTTCAGGCAGAAGGCCTCAACGCACGAGACTTGGGCTTAT AGTTCAGGCAGAAGGCCTCAATGCACGAGACTTGGGCTTAT < 41bp 0.564947243870797 0.773615344235145 0.34143203 0.24013898 prediction 0.417336200728696 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236906322 chr1:236906323 nonsynonymous SNV 0.167 0 22 hm1A_associated_SNPs_22466 5 other not specified RCV000036866.5
1269 chr1 236906323 236906323 1 + C T COAD 236906322 + 236906302 236906342 41 AGTTCAGGCAGAAGGCCTCAACGCACGAGACTTGGGCTTAT AGTTCAGGCAGAAGGCCTCAATGCACGAGACTTGGGCTTAT < 41bp 0.564947243870797 0.773615344235145 0.34143203 0.24013898 prediction 0.417336200728696 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236906322 chr1:236906323 nonsynonymous SNV 0.167 0 22 hm1A_associated_SNPs_22466 5 Uncertain significance not provided RCV000171860.3
1269 chr1 236906323 236906323 1 + C T COAD 236906322 + 236906302 236906342 41 AGTTCAGGCAGAAGGCCTCAACGCACGAGACTTGGGCTTAT AGTTCAGGCAGAAGGCCTCAATGCACGAGACTTGGGCTTAT < 41bp 0.564947243870797 0.773615344235145 0.34143203 0.24013898 prediction 0.417336200728696 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236906322 chr1:236906323 nonsynonymous SNV 0.167 0 22 hm1A_associated_SNPs_22466 5 Uncertain significance Cardiovascular phenotype RCV000249512.1
1269 chr1 236906323 236906323 1 + C T COAD 236906322 + 236906302 236906342 41 AGTTCAGGCAGAAGGCCTCAACGCACGAGACTTGGGCTTAT AGTTCAGGCAGAAGGCCTCAATGCACGAGACTTGGGCTTAT < 41bp 0.564947243870797 0.773615344235145 0.34143203 0.24013898 prediction 0.417336200728696 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236906322 chr1:236906323 nonsynonymous SNV 0.167 0 22 hm1A_associated_SNPs_22466 5 Uncertain significance Dilated cardiomyopathy 1AA RCV000469241.1
1269 chr1 236906323 236906323 1 + C T COAD 236906322 + 236906302 236906342 41 AGTTCAGGCAGAAGGCCTCAACGCACGAGACTTGGGCTTAT AGTTCAGGCAGAAGGCCTCAATGCACGAGACTTGGGCTTAT < 41bp 0.564947243870797 0.773615344235145 0.34143203 0.24013898 prediction 0.417336200728696 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236906322 chr1:236906323 nonsynonymous SNV 0.167 0 22 hm1A_associated_SNPs_22466 5 Uncertain significance Primary familial hypertrophic cardiomyopathy RCV000469241.1
1269 chr1 154543671 154543671 1 + C T COAD 154543670 + 154543650 154543690 41 CCCATCCTTTGGCAGTGCTGACGGCATGTACGAGGTGTCCT CCCATCCTTTGGCAGTGCTGATGGCATGTACGAGGTGTCCT < 41bp 0.49426568279311 0.708472208462335 0.36836097 0.23518455 prediction 0.416944416924669 Functional Gain - CHRNB2 ENSG00000160716 CDS Human protein_coding chr1:154543670 chr1:154543671 synonymous SNV . 0 22 hm1A_associated_SNPs_22513 1 Likely benign not specified RCV000440825.1
1269 chr9 119460579 119460579 1 + G C rs117599771 119460581 + 119460561 119460601 41 GTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCA GTATAAAGCAGTTCTCCACGAGTATGGGCATGAGGAGCGCA < 41bp 0.523518738094814 0.731746807541397 0.15622252 0.15959689 prediction 0.416456138893165 Functional Gain - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119460581 chr9:119460579 nonsynonymous SNV 0.988 1 19 hm1A_associated_SNPs_22561 2 Likely benign not specified RCV000175842.2
1269 chr9 119460579 119460579 1 + G C rs117599771 119460581 + 119460561 119460601 41 GTATAAAGCAGTTCTCCAGGAGTATGGGCATGAGGAGCGCA GTATAAAGCAGTTCTCCACGAGTATGGGCATGAGGAGCGCA < 41bp 0.523518738094814 0.731746807541397 0.15622252 0.15959689 prediction 0.416456138893165 Functional Gain - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119460581 chr9:119460579 nonsynonymous SNV 0.988 1 19 hm1A_associated_SNPs_22561 2 Likely benign Bardet-Biedl syndrome RCV000470911.1
1269 chr1 156106818 156106818 1 + C T READ 156106817 + 156106797 156106837 41 TGAAGGCTGGGCAGGTGGTGACGGTGAGTGGCAGGGCGCTT TGAAGGCTGGGCAGGTGGTGATGGTGAGTGGCAGGGCGCTT < 41bp 0.526722986391116 0.734735111335223 0.69755507 0.6230073 prediction 0.416024249888214 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106817 chr1:156106818 nonsynonymous SNV 1.000 5 22 hm1A_associated_SNPs_22605 1 Uncertain significance not specified RCV000235878.1
1269 chr6 52344502 52344502 1 + C T BLCA 52344501 + 52344481 52344521 41 TTTGAAATACATGGAGAGCAACGCTGCCCAGTATTCACCAG TTTGAAATACATGGAGAGCAATGCTGCCCAGTATTCACCAG < 41bp 0.491587029681186 0.707683382574997 0.19410932 0.13670275 prediction 0.415366765149994 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52344501 chr6:52344502 synonymous SNV . 0 22 hm1A_associated_SNPs_22675 2 Benign not specified RCV000187336.2
1269 chr6 52344502 52344502 1 + C T BLCA 52344501 + 52344481 52344521 41 TTTGAAATACATGGAGAGCAACGCTGCCCAGTATTCACCAG TTTGAAATACATGGAGAGCAATGCTGCCCAGTATTCACCAG < 41bp 0.491587029681186 0.707683382574997 0.19410932 0.13670275 prediction 0.415366765149994 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52344501 chr6:52344502 synonymous SNV . 0 22 hm1A_associated_SNPs_22675 2 Uncertain significance Juvenile myoclonic epilepsy RCV000393652.1
1269 chr17 73258611 73258611 1 + T C rs115955242 73258613 + 73258593 73258633 41 ATGGAGCCGCTATAGTCCTGAATTCAAGGATCCCTTGATTG ATGGAGCCGCTATAGTCCCGAATTCAAGGATCCCTTGATTG < 41bp 0.64554925587224 0.852745447773766 0.35218284 0.6593924 prediction 0.414392383803053 Functional Gain - MRPS7 ENSG00000125445 CDS Human protein_coding chr17:73258613 chr17:73258611 synonymous SNV . 0 19 hm1A_associated_SNPs_22784 1 Likely benign not specified RCV000428761.1
1269 chr19 50909518 50909518 1 + C T COAD 50909517 + 50909497 50909537 41 CTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAG CTTCATTCCAGTCCAAGCAGATGGGCCGGCGGGACACCAAG < 41bp 0.490818717024125 0.706386415952366 0.5134113 0.4649229 prediction 0.412772831904733 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50909517 chr19:50909518 nonsynonymous SNV 0.835 0 22 hm1A_associated_SNPs_22958 2 Uncertain significance Colorectal cancer 10 RCV000226871.2
1269 chr19 50909518 50909518 1 + C T COAD 50909517 + 50909497 50909537 41 CTTCATTCCAGTCCAAGCAGACGGGCCGGCGGGACACCAAG CTTCATTCCAGTCCAAGCAGATGGGCCGGCGGGACACCAAG < 41bp 0.490818717024125 0.706386415952366 0.5134113 0.4649229 prediction 0.412772831904733 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50909517 chr19:50909518 nonsynonymous SNV 0.835 0 22 hm1A_associated_SNPs_22958 2 Uncertain significance not specified RCV000480965.1
1269 chr19 50910642 50910642 1 + C T UCEC 50910641 + 50910621 50910661 41 CAGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAG CAGAGGGCGGCGAGGACTACATGGGAGCCACTGTCATCGAG < 41bp 0.594899882125423 0.801130853810354 0.71013725 0.6147491 prediction 0.412461943369861 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910641 chr19:50910642 nonsynonymous SNV 0.995 2 22 hm1A_associated_SNPs_22996 1 Uncertain significance Colorectal cancer 10 RCV000462303.1
1269 chr13 103528224 103528224 1 + C T UCEC 103528223 + 103528203 103528243 41 AAGAAAAGAAGGAAACTAAGACGTGCGAGGGGAAGAAAAAG AAGAAAAGAAGGAAACTAAGATGTGCGAGGGGAAGAAAAAG < 41bp 0.50215227804588 0.708274376935569 0.31010073 0.16238502 prediction 0.412244197779377 Functional Gain - BIVM-ERCC5;ERCC5 ENSG00000134899 CDS Human protein_coding chr13:103528223 chr13:103528224 nonsynonymous SNV 0.000 1 22 hm1A_associated_SNPs_23030 1 Uncertain significance Xeroderma pigmentosum RCV000283067.1
1269 chr18 72999993 72999993 1 + C T rs75790877 72999992 + 72999972 73000012 41 CAGCTTTGAGGAGGCGTTGGACGAGCTGTCACCGGTCCACA CAGCTTTGAGGAGGCGTTGGATGAGCTGTCACCGGTCCACA < 41bp 0.540193840492747 0.746023765806554 0.5665864 0.48457018 prediction 0.411659850627614 Functional Gain - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72999992 chr18:72999993 synonymous SNV . 0 22 hm1A_associated_SNPs_23113 1 Likely benign Aural atresia, congenital RCV000281673.1
1269 chr17 59560463 59560463 1 + C T rs7218485 59560462 + 59560442 59560482 41 TGCCGGGGTGTCTGGGGTGGACGACCTGCCCCCACCTCCGC TGCCGGGGTGTCTGGGGTGGATGACCTGCCCCCACCTCCGC < 41bp 0.596715765963415 0.80246853991733 0.6574239 0.5247569 prediction 0.411505547907829 Functional Gain - TBX4 ENSG00000121075 CDS Human protein_coding chr17:59560462 chr17:59560463 synonymous SNV . 0 22 hm1A_associated_SNPs_23133 1 Benign Ischiopatellar dysplasia RCV000351494.1
1269 chr1 183208521 183208521 1 + C T UCEC 183208520 + 183208500 183208540 41 GTTTGACCTGCAGGTGGACAACAGAAAAGCAGAAGCTGAAG GTTTGACCTGCAGGTGGACAATAGAAAAGCAGAAGCTGAAG < 41bp 0.549891089716552 0.75559131954407 0.19670817 0.20939472 prediction 0.411400459655036 Functional Gain - LAMC2 ENSG00000058085 CDS Human protein_coding chr1:183208520 chr1:183208521 synonymous SNV . 0 22 hm1A_associated_SNPs_23141 1 Uncertain significance Epidermolysis bullosa, junctional RCV000348280.1
1269 chr2 220284975 220284975 1 + C T UCEC 220284974 + 220284954 220284994 41 CTCGCTTGGCCTCTCCCAGGACGTGGATGCAGCTACTCTAG CTCGCTTGGCCTCTCCCAGGATGTGGATGCAGCTACTCTAG < 41bp 0.485016374144558 0.705664577841994 0.20388147 0.14057645 prediction 0.411329155683988 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220284974 chr2:220284975 synonymous SNV . 0 22 hm1A_associated_SNPs_23150 1 other not specified RCV000037246.3
1269 chr17 18049248 18049248 1 + C T rs76886140 18049247 + 18049227 18049267 41 GGAGAACATCTTCGGGAACTACATCGTGCAGAAGGGGCTGG GGAGAACATCTTCGGGAACTATATCGTGCAGAAGGGGCTGG < 41bp 0.572864161205749 0.778296379840039 0.5056227 0.4349052 prediction 0.410864437268579 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18049247 chr17:18049248 synonymous SNV . 0 22 hm1A_associated_SNPs_23213 1 Benign not specified RCV000155195.1
1269 chr16 50744556 50744556 1 + C T STAD 50744555 + 50744535 50744575 41 GTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATA GTACCTATGATGGAGCAGAGATGCTCTGCCTGGAGGACATA < 41bp 0.512048358906572 0.717396263835493 0.15782794 0.13230869 prediction 0.410695809857843 Functional Gain - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50744555 chr16:50744556 nonsynonymous SNV 0.062 3 22 hm1A_associated_SNPs_23229 2 Likely benign Blau syndrome RCV000274697.1
1269 chr16 50744556 50744556 1 + C T STAD 50744555 + 50744535 50744575 41 GTACCTATGATGGAGCAGAGACGCTCTGCCTGGAGGACATA GTACCTATGATGGAGCAGAGATGCTCTGCCTGGAGGACATA < 41bp 0.512048358906572 0.717396263835493 0.15782794 0.13230869 prediction 0.410695809857843 Functional Gain - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50744555 chr16:50744556 nonsynonymous SNV 0.062 3 22 hm1A_associated_SNPs_23229 2 Likely benign Crohn disease RCV000331991.1
1269 chr9 34514433 34514433 1 + C T GBM 34514432 + 34514412 34514452 41 CCAATTCCTCGACACCTATGACGCCCACAACATGTCAGTGG CCAATTCCTCGACACCTATGATGCCCACAACATGTCAGTGG < 41bp 0.503934863887333 0.709170424610887 0.43196526 0.30413154 prediction 0.410471121447108 Functional Gain - DNAI1 ENSG00000122735 CDS Human protein_coding chr9:34514432 chr9:34514433 synonymous SNV . 0 22 hm1A_associated_SNPs_23255 1 Likely benign not specified RCV000156117.1
1269 chr6 24533811 24533811 1 + C T rs200661931 24533810 + 24533790 24533830 41 AGTGGGCATGGTTGGCGTCAACGAAGGATTAATTTCCTCTG AGTGGGCATGGTTGGCGTCAATGAAGGATTAATTTCCTCTG < 41bp 0.612177727793195 0.81695397537521 0.35374177 0.24053997 prediction 0.40955249516403 Functional Gain - ALDH5A1 ENSG00000112294 CDS Human protein_coding chr6:24533810 chr6:24533811 synonymous SNV . 0 22 hm1A_associated_SNPs_23355 1 Benign not specified RCV000270607.1
1269 chr8 11606438 11606438 1 + C T rs192122549 11606437 + 11606417 11606457 41 CAACTCAGTAGATATGTTTGACGACTTCTCAGAAGGCAGAG CAACTCAGTAGATATGTTTGATGACTTCTCAGAAGGCAGAG < 41bp 0.513828084487825 0.718132826344654 0.16763988 0.16878647 prediction 0.408609483713658 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11606437 chr8:11606438 synonymous SNV . 0 22 hm1A_associated_SNPs_23458 1 Benign Atrioventricular septal defect 4 RCV000234431.1
1269 chr14 45605725 45605725 1 + A C rs144278051 45605727 + 45605707 45605747 41 TGGGTATCCCGCAATCCCACATGGCCGAAATGACAGGTATC TGGGTATCCCGCAATCCCCCATGGCCGAAATGACAGGTATC < 41bp 0.596107994702616 0.800039913439698 0.1658139 0.74856234 prediction 0.407863837474163 Functional Gain - FANCM ENSG00000187790 CDS Human protein_coding chr14:45605727 chr14:45605725 nonsynonymous SNV 0.998 1 19 hm1A_associated_SNPs_23556 1 Likely benign Fanconi anemia RCV000463663.1
1269 chr4 650773 650773 1 + C T PRAD 650772 + 650752 650792 41 CACATTTTACAACAGGAAAGACGGGAAGCCCTTTGACGAAC CACATTTTACAACAGGAAAGATGGGAAGCCCTTTGACGAAC < 41bp 0.534057941061644 0.737720903035371 0.32156837 0.24587232 prediction 0.407325923947454 Functional Gain - PDE6B ENSG00000133256 CDS Human protein_coding chr4:650772 chr4:650773 synonymous SNV . 0 22 hm1A_associated_SNPs_23612 2 Likely benign Retinitis Pigmentosa, Recessive RCV000311133.1
1269 chr4 650773 650773 1 + C T PRAD 650772 + 650752 650792 41 CACATTTTACAACAGGAAAGACGGGAAGCCCTTTGACGAAC CACATTTTACAACAGGAAAGATGGGAAGCCCTTTGACGAAC < 41bp 0.534057941061644 0.737720903035371 0.32156837 0.24587232 prediction 0.407325923947454 Functional Gain - PDE6B ENSG00000133256 CDS Human protein_coding chr4:650772 chr4:650773 synonymous SNV . 0 22 hm1A_associated_SNPs_23612 2 Likely benign Congenital Stationary Night Blindness, Dominant RCV000365845.1
1269 chr8 42977762 42977762 1 + C T rs36071326 42977761 + 42977741 42977781 41 ACTGTGGCCCTATGGAGAGGACGTGCCTTTCCACGATGATC ACTGTGGCCCTATGGAGAGGATGTGCCTTTCCACGATGATC < 41bp 0.471644054069192 0.703418871483909 0.3691296 0.18287355 prediction 0.406837742967818 Functional Gain - POMK ENSG00000185900 CDS Human protein_coding chr8:42977761 chr8:42977762 synonymous SNV . 0 22 hm1A_associated_SNPs_23682 1 Benign not specified RCV000444478.1
1269 chr4 187205301 187205301 1 + T C rs5970 187205303 + 187205283 187205323 41 AACTGCGTCTGTTCGTGGTGAGTGGCCGTGGCAGGTGACCC AACTGCGTCTGTTCGTGGCGAGTGGCCGTGGCAGGTGACCC < 41bp 0.627491075189305 0.830825916742203 0.43676883 0.5483385 prediction 0.406669683105796 Functional Gain - F11 ENSG00000088926 CDS Human protein_coding chr4:187205303 chr4:187205301 synonymous SNV . 0 19 hm1A_associated_SNPs_23700 2 Benign not specified RCV000245406.1
1269 chr4 187205301 187205301 1 + T C rs5970 187205303 + 187205283 187205323 41 AACTGCGTCTGTTCGTGGTGAGTGGCCGTGGCAGGTGACCC AACTGCGTCTGTTCGTGGCGAGTGGCCGTGGCAGGTGACCC < 41bp 0.627491075189305 0.830825916742203 0.43676883 0.5483385 prediction 0.406669683105796 Functional Gain - F11 ENSG00000088926 CDS Human protein_coding chr4:187205303 chr4:187205301 synonymous SNV . 0 19 hm1A_associated_SNPs_23700 2 Benign Hereditary factor XI deficiency disease RCV000276855.1
1269 chr6 52343899 52343899 1 + T C rs1266787 52343901 + 52343881 52343921 41 ACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCCTCCT ACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCCTCCT < 41bp 0.382581842103486 0.702580074280346 0.14644027 0.24535453 prediction 0.405160148560692 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343901 chr6:52343899 nonsynonymous SNV 0.979 0 19 hm1A_associated_SNPs_23894 4 other not specified RCV000116943.4
1269 chr6 52343899 52343899 1 + T C rs1266787 52343901 + 52343881 52343921 41 ACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCCTCCT ACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCCTCCT < 41bp 0.382581842103486 0.702580074280346 0.14644027 0.24535453 prediction 0.405160148560692 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343901 chr6:52343899 nonsynonymous SNV 0.979 0 19 hm1A_associated_SNPs_23894 4 Likely benign Juvenile myoclonic epilepsy RCV000385399.1
1269 chr6 52343899 52343899 1 + T C rs1266787 52343901 + 52343881 52343921 41 ACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCCTCCT ACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCCTCCT < 41bp 0.382581842103486 0.702580074280346 0.14644027 0.24535453 prediction 0.405160148560692 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343901 chr6:52343899 nonsynonymous SNV 0.979 0 19 hm1A_associated_SNPs_23894 4 Benign Epilepsy juvenile absence RCV000473441.1
1269 chr6 52343899 52343899 1 + T C rs1266787 52343901 + 52343881 52343921 41 ACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCCTCCT ACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCCTCCT < 41bp 0.382581842103486 0.702580074280346 0.14644027 0.24535453 prediction 0.405160148560692 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343901 chr6:52343899 nonsynonymous SNV 0.979 0 19 hm1A_associated_SNPs_23894 4 Benign Juvenile myoclonic epilepsy RCV000473441.1
1269 chr3 45559519 45559519 1 + T C rs2170549 45559521 + 45559501 45559541 41 GAGTAACAAGGAGAAAGCTGAGGCCAGGAAGCTCTGGGAGT GAGTAACAAGGAGAAAGCCGAGGCCAGGAAGCTCTGGGAGT < 41bp 0.456027910391537 0.702537195844937 0.3152308 0.31825873 prediction 0.405074391689874 Functional Gain - LARS2 ENSG00000011376 CDS Human protein_coding chr3:45559521 chr3:45559519 synonymous SNV . 0 19 hm1A_associated_SNPs_23907 1 Benign not specified RCV000219077.3
1269 chr22 44322970 44322970 1 + G T rs2076212 44322969 + 44322949 44322989 41 CAGCTCATCTCCGGCAAAATAGGCATCTCTCTTACCAGAGT CAGCTCATCTCCGGCAAAATATGCATCTCTCTTACCAGAGT < 41bp 0.508409665010922 0.710620189817708 0.21007767 0.15673426 prediction 0.404421049613574 Functional Gain - PNPLA3 ENSG00000100344 CDS Human protein_coding chr22:44322969 chr22:44322970 nonsynonymous SNV 0.000 0 22 hm1A_associated_SNPs_23987 1 Likely benign Susceptibility to Nonalcoholic Fatty Liver Disease RCV000334729.1
1269 chr10 101567212 101567212 1 + G T COAD 101567211 + 101567191 101567231 41 CCTCCGGAAGAAAGAGCTCAAGAACCTGCTGGCCTTTAGTC CCTCCGGAAGAAAGAGCTCAATAACCTGCTGGCCTTTAGTC < 41bp 0.496627966414146 0.701741859591584 0.2553978 0.24502513 prediction 0.403483719183167 Functional Gain - ABCC2 ENSG00000023839 CDS Human protein_coding chr10:101567211 chr10:101567212 nonsynonymous SNV 0.788 2 22 hm1A_associated_SNPs_24085 1 Uncertain significance Dubin-Johnson syndrome RCV000375624.1
1269 chr16 68844126 68844126 1 + C T COAD 68844125 + 68844105 68844145 41 CTCTCACGCTGTGTCATCCAACGGGAATGCAGTTGAGGATC CTCTCACGCTGTGTCATCCAATGGGAATGCAGTTGAGGATC < 41bp 0.601197512077147 0.802621880793263 0.1932998 0.17100015 prediction 0.402848737432232 Functional Gain - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68844125 chr16:68844126 synonymous SNV . 0 22 hm1A_associated_SNPs_24160 1 Likely benign not specified RCV000436066.1
1269 chr1 35251161 35251161 1 + C T rs35983826 35251160 + 35251140 35251180 41 GCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCAC GCTGCAGGCTTCAGCACCCAATCTGACCCCCATCTGACCAC < 41bp 0.433221944545012 0.701127457901139 0.45486218 0.47591022 prediction 0.402254915802278 Functional Gain - GJB3 ENSG00000188910 CDS Human protein_coding chr1:35251160 chr1:35251161 synonymous SNV . 0 22 hm1A_associated_SNPs_24227 3 Benign not specified RCV000039324.4
1269 chr1 35251161 35251161 1 + C T rs35983826 35251160 + 35251140 35251180 41 GCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCAC GCTGCAGGCTTCAGCACCCAATCTGACCCCCATCTGACCAC < 41bp 0.433221944545012 0.701127457901139 0.45486218 0.47591022 prediction 0.402254915802278 Functional Gain - GJB3 ENSG00000188910 CDS Human protein_coding chr1:35251160 chr1:35251161 synonymous SNV . 0 22 hm1A_associated_SNPs_24227 3 Benign Erythrokeratodermia variabilis RCV000270487.1
1269 chr1 35251161 35251161 1 + C T rs35983826 35251160 + 35251140 35251180 41 GCTGCAGGCTTCAGCACCCAACCTGACCCCCATCTGACCAC GCTGCAGGCTTCAGCACCCAATCTGACCCCCATCTGACCAC < 41bp 0.433221944545012 0.701127457901139 0.45486218 0.47591022 prediction 0.402254915802278 Functional Gain - GJB3 ENSG00000188910 CDS Human protein_coding chr1:35251160 chr1:35251161 synonymous SNV . 0 22 hm1A_associated_SNPs_24227 3 Benign Nonsyndromic Hearing Loss, Dominant RCV000327942.1
1269 chr8 74894549 74894549 1 + C T rs574729956 74894548 + 74894528 74894568 41 CCAAGACTTTGAGAATCACTACAAGAAAAACTTACGGTGAA CCAAGACTTTGAGAATCACTATAAGAAAAACTTACGGTGAA < 41bp 0.536668363363817 0.737782090737789 0.2374048 0.19405141 prediction 0.402227454747944 Functional Gain - TMEM70 ENSG00000244295 ncRNA_exonic Human processed_pseudogene chr8:74894548 chr8:74894549 . . 0 22 hm1A_associated_SNPs_24232 1 Uncertain significance Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000283579.1
1269 chr15 39880358 39880358 1 + C T rs2228261 39880357 + 39880337 39880377 41 CTCTCCCAGCCCCCAGATGAACGGGAAACCCTGTGAAGGCG CTCTCCCAGCCCCCAGATGAATGGGAAACCCTGTGAAGGCG < 41bp 0.56613535357707 0.767101440769521 0.341979 0.26203388 prediction 0.401932174384901 Functional Gain - THBS1 ENSG00000137801 CDS Human protein_coding chr15:39880357 chr15:39880358 synonymous SNV . 0 22 hm1A_associated_SNPs_24271 1 Benign not specified RCV000455701.1
1269 chr3 30732996 30732996 1 + C T CESC 30732995 + 30732975 30733015 41 ACAGCCCAGTGTGTGGCAGAACGCTTCAGTGAGCTGGAGCA ACAGCCCAGTGTGTGGCAGAATGCTTCAGTGAGCTGGAGCA < 41bp 0.482425921831194 0.700831061461394 0.40011954 0.3105806 prediction 0.401662122922788 Functional Gain - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30732995 chr3:30732996 nonsynonymous SNV 0.994 5 22 hm1A_associated_SNPs_24306 2 Pathogenic Loeys-Dietz syndrome 2 RCV000013331.18
1269 chr3 30732996 30732996 1 + C T CESC 30732995 + 30732975 30733015 41 ACAGCCCAGTGTGTGGCAGAACGCTTCAGTGAGCTGGAGCA ACAGCCCAGTGTGTGGCAGAATGCTTCAGTGAGCTGGAGCA < 41bp 0.482425921831194 0.700831061461394 0.40011954 0.3105806 prediction 0.401662122922788 Functional Gain - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30732995 chr3:30732996 nonsynonymous SNV 0.994 5 22 hm1A_associated_SNPs_24306 2 Pathogenic not provided RCV000196289.2
1269 chr5 161522510 161522510 1 + C T STAD 161522509 + 161522489 161522529 41 TTCTCTTTACAGTGAAGCCAACGTTAATTCACACAGACATG TTCTCTTTACAGTGAAGCCAATGTTAATTCACACAGACATG < 41bp 0.557092438141712 0.757121649381299 0.07373676 0.06176734 prediction 0.400058422479173 Functional Gain - GABRG2 ENSG00000113327 CDS Human protein_coding chr5:161522509 chr5:161522510 nonsynonymous SNV 1.000 4 22 hm1A_associated_SNPs_24519 1 Uncertain significance not specified RCV000439122.1
1269 chr4 88928804 88928804 1 + G A rs529779778 88928804 + 88928784 88928824 41 AGCAGGCGGCGGCGGGCGCCGGGAAGAAAGGAACATGGCTC AGCAGGCGGCGGCGGGCGCCAGGAAGAAAGGAACATGGCTC Direct Gain 0 0.988367261304509 0 0.99135035276413 prediction 0.976734522609018 Functional Gain - PKD2 ENSG00000118762 upstream Human protein_coding chr4:88928804 chr4:88928804 . . 0 21 hm1A_associated_SNPs_24549 1 Uncertain significance Polycystic kidney disease, autosomal dominant RCV000331117.1
1269 chr2 121742222 121742222 1 + C T rs142775128 121742222 - 121742202 121742242 41 TCTCTGGGCCGCCAGGCTCCGTGCCGGCCTCACTGTCCCCA TCTCTGGGCCGCCAGGCTCCATGCCGGCCTCACTGTCCCCA Direct Gain 0 0.987213568948764 0 0.99734103679657 prediction 0.974427137897528 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121742222 chr2:121742222 nonsynonymous SNV 0.001 0 21 hm1A_associated_SNPs_24571 3 Likely benign Anophthalmia - microphthalmia RCV000207367.1
1269 chr2 121742222 121742222 1 + C T rs142775128 121742222 - 121742202 121742242 41 TCTCTGGGCCGCCAGGCTCCGTGCCGGCCTCACTGTCCCCA TCTCTGGGCCGCCAGGCTCCATGCCGGCCTCACTGTCCCCA Direct Gain 0 0.987213568948764 0 0.99734103679657 prediction 0.974427137897528 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121742222 chr2:121742222 nonsynonymous SNV 0.001 0 21 hm1A_associated_SNPs_24571 3 Likely benign Holoprosencephaly RCV000263942.1
1269 chr2 121742222 121742222 1 + C T rs142775128 121742222 - 121742202 121742242 41 TCTCTGGGCCGCCAGGCTCCGTGCCGGCCTCACTGTCCCCA TCTCTGGGCCGCCAGGCTCCATGCCGGCCTCACTGTCCCCA Direct Gain 0 0.987213568948764 0 0.99734103679657 prediction 0.974427137897528 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121742222 chr2:121742222 nonsynonymous SNV 0.001 0 21 hm1A_associated_SNPs_24571 3 other not specified RCV000309933.2
1269 chr17 4925674 4925674 1 + C T rs73345356 4925674 - 4925654 4925694 41 GCCTCAATCTCAGCCCGCCCGTGGCGGAAGTCAGCCAGGGC GCCTCAATCTCAGCCCGCCCATGGCGGAAGTCAGCCAGGGC Direct Gain 0 0.984558983207543 0 0.996277153491974 prediction 0.969117966415087 Functional Gain - KIF1C ENSG00000129250 CDS Human protein_coding chr17:4925674 chr17:4925674 synonymous SNV . 0 21 hm1A_associated_SNPs_24651 1 Benign not specified RCV000425902.1
1269 chr16 83933193 83933193 1 + C T rs62640904 83933193 - 83933173 83933213 41 ACCAGGAAGCGCACGCCGCCGTCCAGCTTGCTGATGTGGTG ACCAGGAAGCGCACGCCGCCATCCAGCTTGCTGATGTGGTG Direct Gain 0 0.984081722194418 0 0.994899809360504 prediction 0.968163444388836 Functional Gain - MLYCD ENSG00000103150 CDS Human protein_coding chr16:83933193 chr16:83933193 synonymous SNV . 0 21 hm1A_associated_SNPs_24669 2 Benign not specified RCV000081527.5
1269 chr16 83933193 83933193 1 + C T rs62640904 83933193 - 83933173 83933213 41 ACCAGGAAGCGCACGCCGCCGTCCAGCTTGCTGATGTGGTG ACCAGGAAGCGCACGCCGCCATCCAGCTTGCTGATGTGGTG Direct Gain 0 0.984081722194418 0 0.994899809360504 prediction 0.968163444388836 Functional Gain - MLYCD ENSG00000103150 CDS Human protein_coding chr16:83933193 chr16:83933193 synonymous SNV . 0 21 hm1A_associated_SNPs_24669 2 Likely benign Deficiency of malonyl-CoA decarboxylase RCV000273732.1
1269 chr1 981868 981868 1 + C T HNSC 981868 - 981848 981888 41 GGAGCCAGGGGGAGGGCGCCGGGGGGGGCCGGCAGTGCCTG GGAGCCAGGGGGAGGGCGCCAGGGGGGGCCGGCAGTGCCTG Direct Gain 0 0.980974510992043 0 0.135049939155579 prediction 0.961949021984086 Functional Gain - AGRN ENSG00000188157 CDS Human protein_coding chr1:981868 chr1:981868 synonymous SNV . 0 21 hm1A_associated_SNPs_24847 1 Likely benign not specified RCV000248800.1
1269 chr20 44049008 44049008 1 + C T rs149740779 44049008 - 44048988 44049028 41 AAGCCAGGGGGCAGGGCTCCGTGAGGGTTCGGGAGAACATC AAGCCAGGGGGCAGGGCTCCATGAGGGTTCGGGAGAACATC Direct Gain 0 0.98096101428552 0 0.986472845077515 prediction 0.961922028571039 Functional Gain - PIGT ENSG00000124155 CDS Human protein_coding chr20:44049008 chr20:44049008 nonsynonymous SNV 0.966 3 21 hm1A_associated_SNPs_24849 1 Uncertain significance not provided RCV000440925.1
1269 chr1 116184621 116184621 1 + C A rs191609592 116184621 + 116184601 116184641 41 CGGCGGCGGCGGGGCTCTGCCTCTCCAGGAGCCCAGCGCAG CGGCGGCGGCGGGGCTCTGCATCTCCAGGAGCCCAGCGCAG Direct Gain 0 0.980177721654543 0 0.991446971893311 prediction 0.960355443309087 Functional Gain - VANGL1 ENSG00000173218 UTR5 Human protein_coding chr1:116184621 chr1:116184621 . . 0 21 hm1A_associated_SNPs_24903 2 Likely benign Neural tube defect RCV000352634.1
1269 chr1 116184621 116184621 1 + C A rs191609592 116184621 + 116184601 116184641 41 CGGCGGCGGCGGGGCTCTGCCTCTCCAGGAGCCCAGCGCAG CGGCGGCGGCGGGGCTCTGCATCTCCAGGAGCCCAGCGCAG Direct Gain 0 0.980177721654543 0 0.991446971893311 prediction 0.960355443309087 Functional Gain - VANGL1 ENSG00000173218 UTR5 Human protein_coding chr1:116184621 chr1:116184621 . . 0 21 hm1A_associated_SNPs_24903 2 Likely benign Caudal dysgenesis syndrome RCV000405114.1
1269 chr7 66104098 66104098 1 + C T ESCA 66104098 - 66104078 66104118 41 GACCCTGGGCCGAGAGGTCCGTGACCAGGCAGTGCAGCAGG GACCCTGGGCCGAGAGGTCCATGACCAGGCAGTGCAGCAGG Direct Gain 0 0.980152045979759 0 0.994797945022583 prediction 0.960304091959518 Functional Gain - KCTD7 ENSG00000243335 CDS Human protein_coding chr7:66104098 chr7:66104098 nonsynonymous SNV 0.998 1 21 hm1A_associated_SNPs_24905 1 Uncertain significance Progressive myoclonic epilepsy RCV000289910.1
1269 chr17 8222092 8222092 1 + C T COAD 8222092 - 8222072 8222112 41 TCCCTGGAATTCCAGGCGCCGTGACCAGGAGACCAGGGGCA TCCCTGGAATTCCAGGCGCCATGACCAGGAGACCAGGGGCA Direct Gain 0 0.979216225027928 0 0.965198636054993 prediction 0.958432450055856 Functional Gain - ARHGEF15 ENSG00000198844 CDS Human protein_coding chr17:8222092 chr17:8222092 nonsynonymous SNV 0.978 5 21 hm1A_associated_SNPs_24965 1 Uncertain significance Malignant tumor of prostate RCV000149369.1
1269 chr19 45207451 45207451 1 + C T UCEC 45207451 - 45207431 45207471 41 TGCCTGGCCAGCACCCGGCCGTCAGGGGACAGGCCCAGGCG TGCCTGGCCAGCACCCGGCCATCAGGGGACAGGCCCAGGCG Direct Gain 0 0.978307056712316 0 0.724252879619598 prediction 0.956614113424633 Functional Gain - CEACAM16 ENSG00000213892 CDS Human protein_coding chr19:45207451 chr19:45207451 synonymous SNV . 0 21 hm1A_associated_SNPs_25066 1 Likely benign not specified RCV000217708.1
1269 chr10 112327476 112327476 1 + C A rs148267784 112327476 + 112327456 112327496 41 TGGCTGAGGGGAGCGAGCGGCGCTTTGGGGGAGGGGTCGCG TGGCTGAGGGGAGCGAGCGGAGCTTTGGGGGAGGGGTCGCG Direct Gain 0 0.978081757809218 0 0.581099092960358 prediction 0.956163515618436 Functional Gain - SMC3 ENSG00000108055 UTR5 Human protein_coding chr10:112327476 chr10:112327476 . . 0 21 hm1A_associated_SNPs_25094 1 Likely benign Cornelia de Lange Syndrome RCV000407357.1
1269 chr8 86376181 86376181 1 + C A rs570970117 86376181 + 86376161 86376201 41 CCCCTCCCCCGGGCCGCCCCCGAGCACGAAGTTGGCGGGAG CCCCTCCCCCGGGCCGCCCCAGAGCACGAAGTTGGCGGGAG Direct Gain 0 0.977695291143759 0 0.547723650932312 prediction 0.955390582287518 Functional Gain - CA3-AS1 ENSG00000253549 ncRNA_intronic Human antisense chr8:86376181 chr8:86376181 . . 0 21 hm1A_associated_SNPs_25125 1 Uncertain significance Osteopetrosis with renal tubular acidosis RCV000356455.1
1269 chr10 112327501 112327501 1 + C A rs376252081 112327501 + 112327481 112327521 41 TGGGGGAGGGGTCGCGTAGGCGCCTCACCTGACCCTGCGGC TGGGGGAGGGGTCGCGTAGGAGCCTCACCTGACCCTGCGGC Direct Gain 0 0.97677021780318 0 0.989092588424683 prediction 0.953540435606361 Functional Gain - SMC3 ENSG00000108055 UTR5 Human protein_coding chr10:112327501 chr10:112327501 . . 0 21 hm1A_associated_SNPs_25232 1 Likely benign Cornelia de Lange Syndrome RCV000357941.1
1269 chr4 619685 619685 1 + C T rs80344633 619685 - 619665 619705 41 TACATGAAGAGGCTGCAGCGGTCGGCCTGCAGGAGGGTGCA TACATGAAGAGGCTGCAGCGATCGGCCTGCAGGAGGGTGCA Direct Gain 0 0.976501235518129 0 0.976576089859009 prediction 0.953002471036259 Functional Gain - PDE6B ENSG00000133256 CDS Human protein_coding chr4:619685 chr4:619685 synonymous SNV . 0 21 hm1A_associated_SNPs_25264 2 Likely benign Congenital Stationary Night Blindness, Dominant RCV000318799.1
1269 chr4 619685 619685 1 + C T rs80344633 619685 - 619665 619705 41 TACATGAAGAGGCTGCAGCGGTCGGCCTGCAGGAGGGTGCA TACATGAAGAGGCTGCAGCGATCGGCCTGCAGGAGGGTGCA Direct Gain 0 0.976501235518129 0 0.976576089859009 prediction 0.953002471036259 Functional Gain - PDE6B ENSG00000133256 CDS Human protein_coding chr4:619685 chr4:619685 synonymous SNV . 0 21 hm1A_associated_SNPs_25264 2 Likely benign Retinitis Pigmentosa, Recessive RCV000375998.1
1269 chr17 73738713 73738713 1 + C T UCEC 73738713 - 73738693 73738733 41 CCGGATAAAGAGGGGCACCCGTACGTCCACCAGCTCCACGC CCGGATAAAGAGGGGCACCCATACGTCCACCAGCTCCACGC Direct Gain 0 0.974826581597823 0 0.881067514419556 prediction 0.949653163195646 Functional Gain - ITGB4 ENSG00000132470 CDS Human protein_coding chr17:73738713 chr17:73738713 nonsynonymous SNV 0.920 4 21 hm1A_associated_SNPs_25467 1 Uncertain significance Epidermolysis bullosa junctionalis with pyloric atresia RCV000330491.1
1269 chr12 2602405 2602405 1 + C T rs112539787 2602405 - 2602385 2602425 41 CCGTTCTGGCACTGCCGCCCGTGGCCCGTTTCCAGCGCACA CCGTTCTGGCACTGCCGCCCATGGCCCGTTTCCAGCGCACA Direct Gain 0 0.974303410536551 0 0.987775444984436 prediction 0.948606821073102 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2602405 chr12:2602405 synonymous SNV . 0 21 hm1A_associated_SNPs_25523 4 Benign not specified RCV000124070.3
1269 chr12 2602405 2602405 1 + C T rs112539787 2602405 - 2602385 2602425 41 CCGTTCTGGCACTGCCGCCCGTGGCCCGTTTCCAGCGCACA CCGTTCTGGCACTGCCGCCCATGGCCCGTTTCCAGCGCACA Direct Gain 0 0.974303410536551 0 0.987775444984436 prediction 0.948606821073102 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2602405 chr12:2602405 synonymous SNV . 0 21 hm1A_associated_SNPs_25523 4 Likely benign Timothy syndrome RCV000317900.1
1269 chr12 2602405 2602405 1 + C T rs112539787 2602405 - 2602385 2602425 41 CCGTTCTGGCACTGCCGCCCGTGGCCCGTTTCCAGCGCACA CCGTTCTGGCACTGCCGCCCATGGCCCGTTTCCAGCGCACA Direct Gain 0 0.974303410536551 0 0.987775444984436 prediction 0.948606821073102 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2602405 chr12:2602405 synonymous SNV . 0 21 hm1A_associated_SNPs_25523 4 Likely benign Brugada syndrome RCV000356206.1
1269 chr12 2602405 2602405 1 + C T rs112539787 2602405 - 2602385 2602425 41 CCGTTCTGGCACTGCCGCCCGTGGCCCGTTTCCAGCGCACA CCGTTCTGGCACTGCCGCCCATGGCCCGTTTCCAGCGCACA Direct Gain 0 0.974303410536551 0 0.987775444984436 prediction 0.948606821073102 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2602405 chr12:2602405 synonymous SNV . 0 21 hm1A_associated_SNPs_25523 4 Benign Long QT syndrome RCV000466923.1
1269 chr21 47423834 47423834 1 + C T COAD 47423834 - 47423814 47423854 41 CGGAACAGGTGGCTCTCGCCGTAGGCCACGTCGTACTCGGC CGGAACAGGTGGCTCTCGCCATAGGCCACGTCGTACTCGGC Direct Gain 0 0.973880305789802 0 0.995466947555542 prediction 0.947760611579604 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423834 chr21:47423834 synonymous SNV . 0 21 hm1A_associated_SNPs_25584 1 Likely benign not specified RCV000504198.1
1269 chr10 43615013 43615013 1 + C T rs577929869 43615013 - 43614993 43615033 41 AGGAAGCCCCGCAGGGAGCCGTATTTGGCGTACTCCACGAT AGGAAGCCCCGCAGGGAGCCATATTTGGCGTACTCCACGAT Direct Gain 0 0.973667355160731 0 0.765140891075134 prediction 0.947334710321463 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43615013 chr10:43615013 synonymous SNV . 0 21 hm1A_associated_SNPs_25627 1 Benign Multiple endocrine neoplasia, type 2 RCV000233277.2
1269 chr19 50812926 50812926 1 + C T UCEC 50812926 - 50812906 50812946 41 GTCGGAAGACCTGGCGCACCGTGCGGGTGGTGAAGGTGAGG GTCGGAAGACCTGGCGCACCATGCGGGTGGTGAAGGTGAGG Direct Gain 0 0.973569790290384 0 0.999919652938843 prediction 0.947139580580769 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50812926 chr19:50812926 nonsynonymous SNV 0.803 1 21 hm1A_associated_SNPs_25654 2 Uncertain significance not specified RCV000213467.1
1269 chr19 50812926 50812926 1 + C T UCEC 50812926 - 50812906 50812946 41 GTCGGAAGACCTGGCGCACCGTGCGGGTGGTGAAGGTGAGG GTCGGAAGACCTGGCGCACCATGCGGGTGGTGAAGGTGAGG Direct Gain 0 0.973569790290384 0 0.999919652938843 prediction 0.947139580580769 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50812926 chr19:50812926 nonsynonymous SNV 0.803 1 21 hm1A_associated_SNPs_25654 2 Uncertain significance Nonsyndromic Hearing Loss, Dominant RCV000306244.1
1269 chr17 42427892 42427892 1 + C T rs63750479 42427892 - 42427872 42427912 41 TTGCCAGGGGGTGGGTGCCCGTGGGTGTGATGCAGCGGGTG TTGCCAGGGGGTGGGTGCCCATGGGTGTGATGCAGCGGGTG Direct Gain 0 0.973292965006941 0 0.661456882953644 prediction 0.946585930013881 Functional Gain - GRN ENSG00000030582 CDS Human protein_coding chr17:42427892 chr17:42427892 nonsynonymous SNV 0.001 0 21 hm1A_associated_SNPs_25701 2 not provided not provided RCV000084447.1
1269 chr17 42427892 42427892 1 + C T rs63750479 42427892 - 42427872 42427912 41 TTGCCAGGGGGTGGGTGCCCGTGGGTGTGATGCAGCGGGTG TTGCCAGGGGGTGGGTGCCCATGGGTGTGATGCAGCGGGTG Direct Gain 0 0.973292965006941 0 0.661456882953644 prediction 0.946585930013881 Functional Gain - GRN ENSG00000030582 CDS Human protein_coding chr17:42427892 chr17:42427892 nonsynonymous SNV 0.001 0 21 hm1A_associated_SNPs_25701 2 Likely benign Frontotemporal dementia RCV000295460.1
1269 chr19 47259292 47259292 1 + C T rs75079578 47259292 - 47259272 47259312 41 AGGAGCACCACAGCATCTCCGTCCAGGGCGTCGCAGCGGGG AGGAGCACCACAGCATCTCCATCCAGGGCGTCGCAGCGGGG Direct Gain 0 0.973135041800874 0 0.999152779579163 prediction 0.946270083601747 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259292 chr19:47259292 synonymous SNV . 0 21 hm1A_associated_SNPs_25731 2 other not specified RCV000082179.9
1269 chr19 47259292 47259292 1 + C T rs75079578 47259292 - 47259272 47259312 41 AGGAGCACCACAGCATCTCCGTCCAGGGCGTCGCAGCGGGG AGGAGCACCACAGCATCTCCATCCAGGGCGTCGCAGCGGGG Direct Gain 0 0.973135041800874 0 0.999152779579163 prediction 0.946270083601747 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259292 chr19:47259292 synonymous SNV . 0 21 hm1A_associated_SNPs_25731 2 Benign Walker-Warburg congenital muscular dystrophy RCV000232394.2
1269 chr7 193245 193245 1 + G T rs150401144 193245 - 193225 193265 41 CGCGCAGGCCACCAGGAACACCATCAGGATGAGCACGCGGA CGCGCAGGCCACCAGGAACAACATCAGGATGAGCACGCGGA Direct Gain 0 0.972790609206495 0 0.946492254734039 prediction 0.945581218412991 Functional Gain - FAM20C ENSG00000177706 CDS Human protein_coding chr7:193245 chr7:193245 nonsynonymous SNV 0.945 1 21 hm1A_associated_SNPs_25782 2 Benign not specified RCV000173495.1
1269 chr7 193245 193245 1 + G T rs150401144 193245 - 193225 193265 41 CGCGCAGGCCACCAGGAACACCATCAGGATGAGCACGCGGA CGCGCAGGCCACCAGGAACAACATCAGGATGAGCACGCGGA Direct Gain 0 0.972790609206495 0 0.946492254734039 prediction 0.945581218412991 Functional Gain - FAM20C ENSG00000177706 CDS Human protein_coding chr7:193245 chr7:193245 nonsynonymous SNV 0.945 1 21 hm1A_associated_SNPs_25782 2 Benign not provided RCV000224610.1
1269 chr19 47258942 47258942 1 + G A rs104894683 47258942 + 47258922 47258962 41 AGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACG AGCAAGACCCAGCCCAGCCCATGGTGGTGGCAGCCGACACG Direct Gain 0 0.972733034577159 0 0.979010343551636 prediction 0.945466069154318 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258942 chr19:47258942 nonsynonymous SNV 0.942 2 21 hm1A_associated_SNPs_25795 5 other Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 RCV000004450.3
1269 chr19 47258942 47258942 1 + G A rs104894683 47258942 + 47258922 47258962 41 AGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACG AGCAAGACCCAGCCCAGCCCATGGTGGTGGCAGCCGACACG Direct Gain 0 0.972733034577159 0 0.979010343551636 prediction 0.945466069154318 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258942 chr19:47258942 nonsynonymous SNV 0.942 2 21 hm1A_associated_SNPs_25795 5 Likely benign Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 RCV000178349.1
1269 chr19 47258942 47258942 1 + G A rs104894683 47258942 + 47258922 47258962 41 AGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACG AGCAAGACCCAGCCCAGCCCATGGTGGTGGCAGCCGACACG Direct Gain 0 0.972733034577159 0 0.979010343551636 prediction 0.945466069154318 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258942 chr19:47258942 nonsynonymous SNV 0.942 2 21 hm1A_associated_SNPs_25795 5 Likely benign Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 RCV000178350.1
1269 chr19 47258942 47258942 1 + G A rs104894683 47258942 + 47258922 47258962 41 AGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACG AGCAAGACCCAGCCCAGCCCATGGTGGTGGCAGCCGACACG Direct Gain 0 0.972733034577159 0 0.979010343551636 prediction 0.945466069154318 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258942 chr19:47258942 nonsynonymous SNV 0.942 2 21 hm1A_associated_SNPs_25795 5 Benign Walker-Warburg congenital muscular dystrophy RCV000230908.2
1269 chr19 47258942 47258942 1 + G A rs104894683 47258942 + 47258922 47258962 41 AGCAAGACCCAGCCCAGCCCGTGGTGGTGGCAGCCGACACG AGCAAGACCCAGCCCAGCCCATGGTGGTGGCAGCCGACACG Direct Gain 0 0.972733034577159 0 0.979010343551636 prediction 0.945466069154318 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258942 chr19:47258942 nonsynonymous SNV 0.942 2 21 hm1A_associated_SNPs_25795 5 Likely benign not specified RCV000236146.3
1269 chr17 7906529 7906529 1 + C T rs201414567 7906529 - 7906509 7906549 41 AGGGGCCCAGGACCCCCACCGTGAACACGGCGGAGAGGGCG AGGGGCCCAGGACCCCCACCATGAACACGGCGGAGAGGGCG Direct Gain 0 0.972727233061343 0 0.998596370220184 prediction 0.945454466122685 Functional Gain - GUCY2D ENSG00000132518 CDS Human protein_coding chr17:7906529 chr17:7906529 nonsynonymous SNV 0.151 2 21 hm1A_associated_SNPs_25798 2 Likely benign not provided RCV000132567.3
1269 chr17 7906529 7906529 1 + C T rs201414567 7906529 - 7906509 7906549 41 AGGGGCCCAGGACCCCCACCGTGAACACGGCGGAGAGGGCG AGGGGCCCAGGACCCCCACCATGAACACGGCGGAGAGGGCG Direct Gain 0 0.972727233061343 0 0.998596370220184 prediction 0.945454466122685 Functional Gain - GUCY2D ENSG00000132518 CDS Human protein_coding chr17:7906529 chr17:7906529 nonsynonymous SNV 0.151 2 21 hm1A_associated_SNPs_25798 2 Uncertain significance not specified RCV000259170.1
1269 chr20 18523739 18523739 1 + C T GBM 18523739 - 18523719 18523759 41 CGCTCGGAACACCCCAAGCCGTGCCATCAACACTGCCGCAG CGCTCGGAACACCCCAAGCCATGCCATCAACACTGCCGCAG Direct Gain 0 0.972632345353483 0 0.999532282352448 prediction 0.945264690706966 Functional Gain - SEC23B ENSG00000101310 CDS Human protein_coding chr20:18523739 chr20:18523739 nonsynonymous SNV 0.972 5 21 hm1A_associated_SNPs_25818 1 Pathogenic Congenital dyserythropoietic anemia, type II RCV000001283.4
1269 chr12 108956450 108956450 1 + C A rs142514490 108956450 + 108956430 108956470 41 GGGCGGCATCGGCTCTGCTGCTGCGGAGCCCCCGCCTGCCC GGGCGGCATCGGCTCTGCTGATGCGGAGCCCCCGCCTGCCC Direct Gain 0 0.972213148204802 0 0.834877729415894 prediction 0.944426296409604 Functional Gain - ISCU ENSG00000136003 CDS Human protein_coding chr12:108956450 chr12:108956450 nonsynonymous SNV 0.844 1 21 hm1A_associated_SNPs_25907 1 Benign not specified RCV000422277.1
1269 chr1 10270880 10270880 1 + C T rs181820595 10270880 - 10270860 10270900 41 AACAGGAGCCGCGGCGCGCGGGGGCGCGGGGGGCCGGGCAC AACAGGAGCCGCGGCGCGCGAGGGCGCGGGGGGCCGGGCAC Direct Gain 0 0.972105551751522 0 0.988685607910156 prediction 0.944211103503044 Functional Gain - KIF1B ENSG00000054523 UTR5 Human protein_coding chr1:10270880 chr1:10270880 . . 0 21 hm1A_associated_SNPs_25924 3 Likely benign Pheochromocytoma RCV000295293.1
1269 chr1 10270880 10270880 1 + C T rs181820595 10270880 - 10270860 10270900 41 AACAGGAGCCGCGGCGCGCGGGGGCGCGGGGGGCCGGGCAC AACAGGAGCCGCGGCGCGCGAGGGCGCGGGGGGCCGGGCAC Direct Gain 0 0.972105551751522 0 0.988685607910156 prediction 0.944211103503044 Functional Gain - KIF1B ENSG00000054523 UTR5 Human protein_coding chr1:10270880 chr1:10270880 . . 0 21 hm1A_associated_SNPs_25924 3 Likely benign Neuroblastoma RCV000345502.1
1269 chr1 10270880 10270880 1 + C T rs181820595 10270880 - 10270860 10270900 41 AACAGGAGCCGCGGCGCGCGGGGGCGCGGGGGGCCGGGCAC AACAGGAGCCGCGGCGCGCGAGGGCGCGGGGGGCCGGGCAC Direct Gain 0 0.972105551751522 0 0.988685607910156 prediction 0.944211103503044 Functional Gain - KIF1B ENSG00000054523 UTR5 Human protein_coding chr1:10270880 chr1:10270880 . . 0 21 hm1A_associated_SNPs_25924 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000401635.1
1269 chr17 59557580 59557580 1 + C T UCEC 59557580 - 59557560 59557600 41 GCGAGCTGTGAGTGTGCCCCGTTCTCGTGCTGGTAGTGCTG GCGAGCTGTGAGTGTGCCCCATTCTCGTGCTGGTAGTGCTG Direct Gain 0 0.971907333922182 0 0.938689470291138 prediction 0.943814667844363 Functional Gain - TBX4 ENSG00000121075 CDS Human protein_coding chr17:59557580 chr17:59557580 synonymous SNV . 0 21 hm1A_associated_SNPs_25955 1 Likely benign Ischiopatellar dysplasia RCV000360546.1
1269 chr3 128445182 128445182 1 + G T rs112000804 128445182 - 128445162 128445202 41 CGCGGCCGCTGCGCTGGGGGCTCCGGGCCGGGCGCGTCGCG CGCGGCCGCTGCGCTGGGGGATCCGGGCCGGGCGCGTCGCG Direct Gain 0 0.971863906921129 0 0.98577618598938 prediction 0.943727813842259 Functional Gain - RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445182 chr3:128445182 . . 0 21 hm1A_associated_SNPs_25967 2 Benign not specified RCV000127681.1
1269 chr3 128445182 128445182 1 + G T rs112000804 128445182 - 128445162 128445202 41 CGCGGCCGCTGCGCTGGGGGCTCCGGGCCGGGCGCGTCGCG CGCGGCCGCTGCGCTGGGGGATCCGGGCCGGGCGCGTCGCG Direct Gain 0 0.971863906921129 0 0.98577618598938 prediction 0.943727813842259 Functional Gain - RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445182 chr3:128445182 . . 0 21 hm1A_associated_SNPs_25967 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000294569.1
1269 chr11 62381076 62381076 1 + C T rs146358003 62381076 - 62381056 62381096 41 GGAGCCCCCCCCCACCAGCCGTGCCAGCCACCAGCAGCGGG GGAGCCCCCCCCCACCAGCCATGCCAGCCACCAGCAGCGGG Direct Gain 0 0.971576817112189 0 0.981967926025391 prediction 0.943153634224379 Functional Gain - ROM1 ENSG00000149489 CDS Human protein_coding chr11:62381076 chr11:62381076 nonsynonymous SNV 0.226 0 21 hm1A_associated_SNPs_26027 1 Uncertain significance not specified RCV000173113.1
1269 chr11 68673630 68673630 1 + C T rs34617762 68673630 - 68673610 68673650 41 AAGGTGACCAGCAGCCGTCCGTACAGCCCAGTGCGCTGGCT AAGGTGACCAGCAGCCGTCCATACAGCCCAGTGCGCTGGCT Direct Gain 0 0.971358201138254 0 0.92935585975647 prediction 0.942716402276508 Functional Gain - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68673630 chr11:68673630 synonymous SNV . 0 21 hm1A_associated_SNPs_26068 2 other not specified RCV000250921.1
1269 chr11 68673630 68673630 1 + C T rs34617762 68673630 - 68673610 68673650 41 AAGGTGACCAGCAGCCGTCCGTACAGCCCAGTGCGCTGGCT AAGGTGACCAGCAGCCGTCCATACAGCCCAGTGCGCTGGCT Direct Gain 0 0.971358201138254 0 0.92935585975647 prediction 0.942716402276508 Functional Gain - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68673630 chr11:68673630 synonymous SNV . 0 21 hm1A_associated_SNPs_26068 2 Uncertain significance Spinal muscular atrophy RCV000392601.1
1269 chr8 11614543 11614543 1 + C T COAD 11614543 - 11614523 11614563 41 GAGATGACAGGCCAGGCTCCGTCTTGATGGGACGCATCTCC GAGATGACAGGCCAGGCTCCATCTTGATGGGACGCATCTCC Direct Gain 0 0.971140538602714 0 0.945454716682434 prediction 0.942281077205428 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11614543 chr8:11614543 nonsynonymous SNV 0.989 3 21 hm1A_associated_SNPs_26096 1 Uncertain significance Atrioventricular septal defect 4 RCV000464841.1
1269 chr1 11072691 11072691 1 + G A rs11121679 11072691 + 11072671 11072711 41 AGGACGCCGGTGGGCGGGGGGAGGAGGCGGCCCTAGCGCCA AGGACGCCGGTGGGCGGGGGAAGGAGGCGGCCCTAGCGCCA Direct Gain 0 0.970968675090421 0 0.887562036514282 prediction 0.941937350180842 Functional Gain - TARDBP ENSG00000120948 intronic Human protein_coding chr1:11072691 chr1:11072691 . . 0 21 hm1A_associated_SNPs_26129 1 Benign Frontotemporal dementia RCV000352656.1
1269 chr11 121028666 121028666 1 + C T rs33981325 121028666 - 121028646 121028686 41 CTGAAGCAGCCGCGCACCCCGTTGCGCAGCGCACACTCCTC CTGAAGCAGCCGCGCACCCCATTGCGCAGCGCACACTCCTC Direct Gain 0 0.970815261738828 0 0.947456657886505 prediction 0.941630523477657 Functional Gain - TECTA ENSG00000109927 CDS Human protein_coding chr11:121028666 chr11:121028666 synonymous SNV . 0 21 hm1A_associated_SNPs_26171 3 Benign not specified RCV000038496.3
1269 chr11 121028666 121028666 1 + C T rs33981325 121028666 - 121028646 121028686 41 CTGAAGCAGCCGCGCACCCCGTTGCGCAGCGCACACTCCTC CTGAAGCAGCCGCGCACCCCATTGCGCAGCGCACACTCCTC Direct Gain 0 0.970815261738828 0 0.947456657886505 prediction 0.941630523477657 Functional Gain - TECTA ENSG00000109927 CDS Human protein_coding chr11:121028666 chr11:121028666 synonymous SNV . 0 21 hm1A_associated_SNPs_26171 3 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000275594.1
1269 chr11 121028666 121028666 1 + C T rs33981325 121028666 - 121028646 121028686 41 CTGAAGCAGCCGCGCACCCCGTTGCGCAGCGCACACTCCTC CTGAAGCAGCCGCGCACCCCATTGCGCAGCGCACACTCCTC Direct Gain 0 0.970815261738828 0 0.947456657886505 prediction 0.941630523477657 Functional Gain - TECTA ENSG00000109927 CDS Human protein_coding chr11:121028666 chr11:121028666 synonymous SNV . 0 21 hm1A_associated_SNPs_26171 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000330622.1
1269 chr2 121746538 121746538 1 + C T rs140479803 121746538 - 121746518 121746558 41 GCGCCGCGGGCCAGGCCGCCGTCGGTGCTCGGGTGGCTCTG GCGCCGCGGGCCAGGCCGCCATCGGTGCTCGGGTGGCTCTG Direct Gain 0 0.970794893697899 0 0.999988317489624 prediction 0.941589787395797 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121746538 chr2:121746538 synonymous SNV . 0 21 hm1A_associated_SNPs_26176 2 Benign not specified RCV000174540.2
1269 chr2 121746538 121746538 1 + C T rs140479803 121746538 - 121746518 121746558 41 GCGCCGCGGGCCAGGCCGCCGTCGGTGCTCGGGTGGCTCTG GCGCCGCGGGCCAGGCCGCCATCGGTGCTCGGGTGGCTCTG Direct Gain 0 0.970794893697899 0 0.999988317489624 prediction 0.941589787395797 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121746538 chr2:121746538 synonymous SNV . 0 21 hm1A_associated_SNPs_26176 2 Likely benign Holoprosencephaly RCV000307745.1
1269 chr12 2602398 2602398 1 + C T HNSC 2602398 - 2602378 2602418 41 GGCACTGCCGCCCGTGGCCCGTTTCCAGCGCACAAGGGGAA GGCACTGCCGCCCGTGGCCCATTTCCAGCGCACAAGGGGAA Direct Gain 0 0.970348576181736 0 0.911205291748047 prediction 0.940697152363471 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2602398 chr12:2602398 nonsynonymous SNV 0.302 3 21 hm1A_associated_SNPs_26269 1 Uncertain significance not specified RCV000482096.1
1269 chr19 50775825 50775825 1 + C T UCEC 50775825 - 50775805 50775845 41 GCGACCCTTCTCCTCCTTCCGTAGGCGGTCTGGAGGCAGGG GCGACCCTTCTCCTCCTTCCATAGGCGGTCTGGAGGCAGGG Direct Gain 0 0.970272684942316 0 0.983070015907288 prediction 0.940545369884632 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50775825 chr19:50775825 nonsynonymous SNV 0.523 3 21 hm1A_associated_SNPs_26287 1 Uncertain significance not specified RCV000037040.2
1269 chr19 50905484 50905484 1 + C T HNSC 50905484 - 50905464 50905504 41 CGCAGGAACGGGGAGGGGCCGTGCCCGTGGTACCCAAACAT CGCAGGAACGGGGAGGGGCCATGCCCGTGGTACCCAAACAT Direct Gain 0 0.970172766997273 0 0.962116003036499 prediction 0.940345533994547 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905484 chr19:50905484 synonymous SNV . 0 21 hm1A_associated_SNPs_26311 2 Benign Colorectal cancer 10 RCV000232734.2
1269 chr19 50905484 50905484 1 + C T HNSC 50905484 - 50905464 50905504 41 CGCAGGAACGGGGAGGGGCCGTGCCCGTGGTACCCAAACAT CGCAGGAACGGGGAGGGGCCATGCCCGTGGTACCCAAACAT Direct Gain 0 0.970172766997273 0 0.962116003036499 prediction 0.940345533994547 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905484 chr19:50905484 synonymous SNV . 0 21 hm1A_associated_SNPs_26311 2 Likely benign not specified RCV000422949.1
1269 chr19 11097617 11097617 1 + C T LUAD 11097617 - 11097597 11097637 41 GCATCCCGGGGGGCACGCCCGAGGGTCCTGGGGGAGGCATG GCATCCCGGGGGGCACGCCCAAGGGTCCTGGGGGAGGCATG Direct Gain 0 0.969983940712818 0 0.167391568422318 prediction 0.939967881425636 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11097617 chr19:11097617 nonsynonymous SNV 0.999 3 21 hm1A_associated_SNPs_26343 1 Uncertain significance Rhabdoid tumor predisposition syndrome 2 RCV000227895.2
1269 chr19 11098481 11098481 1 + C T HNSC 11098481 - 11098461 11098501 41 GCGGGCTGGGCCGGCTGCCCGGGGGACTGGGTCTGCGGTGG GCGGGCTGGGCCGGCTGCCCAGGGGACTGGGTCTGCGGTGG Direct Gain 0 0.969892619953872 0 0.0935928523540497 prediction 0.939785239907744 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098481 chr19:11098481 synonymous SNV . 0 21 hm1A_associated_SNPs_26362 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231959.2
1269 chr19 41920030 41920030 1 + C T rs34442879 41920030 - 41920010 41920050 41 ACTGGCCAAACACCAGGTCCGTGTTGTCCAGGGCGGCGGCA ACTGGCCAAACACCAGGTCCATGTTGTCCAGGGCGGCGGCA Direct Gain 0 0.969675130360018 0 0.856005787849426 prediction 0.939350260720037 Functional Gain - BCKDHA ENSG00000248098;ENSG00000255730 CDS Human other chr19:41920030 chr19:41920030 nonsynonymous SNV 0.969 4 21 hm1A_associated_SNPs_26415 2 other not specified RCV000079243.6
1269 chr19 41920030 41920030 1 + C T rs34442879 41920030 - 41920010 41920050 41 ACTGGCCAAACACCAGGTCCGTGTTGTCCAGGGCGGCGGCA ACTGGCCAAACACCAGGTCCATGTTGTCCAGGGCGGCGGCA Direct Gain 0 0.969675130360018 0 0.856005787849426 prediction 0.939350260720037 Functional Gain - BCKDHA ENSG00000248098;ENSG00000255730 CDS Human other chr19:41920030 chr19:41920030 nonsynonymous SNV 0.969 4 21 hm1A_associated_SNPs_26415 2 Likely benign Maple syrup urine disease RCV000295914.1
1269 chr11 119077032 119077032 1 + G A rs548262208 119077032 + 119077012 119077052 41 CGGCGGCGGCGGCGGCGGCGGCCGGGAGAGGCCCCTCCTTC CGGCGGCGGCGGCGGCGGCGACCGGGAGAGGCCCCTCCTTC Direct Gain 0 0.969617462500767 0 0.999434173107147 prediction 0.939234925001534 Functional Gain - CBL ENSG00000110395 UTR5 Human protein_coding chr11:119077032 chr11:119077032 . . 0 21 hm1A_associated_SNPs_26426 1 Likely benign Noonan-Like Syndrome Disorder RCV000367719.1
1269 chr1 55524222 55524222 1 + C T rs141502002 55524222 - 55524202 55524242 41 GGCGACGGCTGTGGCCATCCGTGTAGGCCCCGAGTGTGCTG GGCGACGGCTGTGGCCATCCATGTAGGCCCCGAGTGTGCTG Direct Gain 0 0.969331658505992 0 0.985374093055725 prediction 0.938663317011984 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524222 chr1:55524222 nonsynonymous SNV 0.003 2 21 hm1A_associated_SNPs_26482 3 Uncertain significance not specified RCV000182576.2
1269 chr1 55524222 55524222 1 + C T rs141502002 55524222 - 55524202 55524242 41 GGCGACGGCTGTGGCCATCCGTGTAGGCCCCGAGTGTGCTG GGCGACGGCTGTGGCCATCCATGTAGGCCCCGAGTGTGCTG Direct Gain 0 0.969331658505992 0 0.985374093055725 prediction 0.938663317011984 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524222 chr1:55524222 nonsynonymous SNV 0.003 2 21 hm1A_associated_SNPs_26482 3 Benign Hypercholesterolemia, autosomal dominant, 3 RCV000228895.1
1269 chr1 55524222 55524222 1 + C T rs141502002 55524222 - 55524202 55524242 41 GGCGACGGCTGTGGCCATCCGTGTAGGCCCCGAGTGTGCTG GGCGACGGCTGTGGCCATCCATGTAGGCCCCGAGTGTGCTG Direct Gain 0 0.969331658505992 0 0.985374093055725 prediction 0.938663317011984 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524222 chr1:55524222 nonsynonymous SNV 0.003 2 21 hm1A_associated_SNPs_26482 3 other Familial hypercholesterolemia RCV000408878.2
1269 chr9 137622101 137622101 1 + C T rs145093766 137622101 - 137622081 137622121 41 CAGGCATGGGAGCAGCTTCCGTGGGGGTCGGGGTCAGCTCC CAGGCATGGGAGCAGCTTCCATGGGGGTCGGGGTCAGCTCC Direct Gain 0 0.969257739149617 0 0.712669134140015 prediction 0.938515478299234 Functional Gain - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137622101 chr9:137622101 nonsynonymous SNV 0.001 2 21 hm1A_associated_SNPs_26500 1 Uncertain significance not specified RCV000198620.2
1269 chr2 173292379 173292379 1 + G A rs144682022 173292379 + 173292359 173292399 41 CCGGACGGAGAGCGCGACCCGTCCCGGGGGTGGGGCCGGGC CCGGACGGAGAGCGCGACCCATCCCGGGGGTGGGGCCGGGC Direct Gain 0 0.968645117119972 0 0.999930620193481 prediction 0.937290234239944 Functional Gain - ITGA6 ENSG00000091409 UTR5 Human protein_coding chr2:173292379 chr2:173292379 . . 0 21 hm1A_associated_SNPs_26638 1 Likely benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000326633.1
1269 chr9 134388692 134388692 1 + C T rs202121299 134388692 - 134388672 134388712 41 AGGGAGCGGGTGGTCATGCCGTGGACCAGCTGCACCATGTC AGGGAGCGGGTGGTCATGCCATGGACCAGCTGCACCATGTC Direct Gain 0 0.968523827129162 0 0.612997472286224 prediction 0.937047654258323 Functional Gain - POMT1 ENSG00000130714 CDS Human protein_coding chr9:134388692 chr9:134388692 synonymous SNV . 0 21 hm1A_associated_SNPs_26668 1 other not specified RCV000394979.3
1269 chr19 33167837 33167837 1 + C T rs35413309 33167837 - 33167817 33167857 41 ACACGGCTAGGGCCACAGCCGCCAGCAGCACGGCGCCGAAA ACACGGCTAGGGCCACAGCCACCAGCAGCACGGCGCCGAAA Direct Gain 0 0.968386203036747 0 0.56296443939209 prediction 0.936772406073494 Functional Gain - RGS9BP ENSG00000186326 CDS Human protein_coding chr19:33167837 chr19:33167837 nonsynonymous SNV 0.971 0 21 hm1A_associated_SNPs_26699 1 Benign not specified RCV000153840.3
1269 chr13 48611934 48611934 1 + G A rs186364861 48611934 + 48611914 48611954 41 GGCCAGGAGTCGGAGTCGGAGTCGTGGTGACCAGCTGCAAG GGCCAGGAGTCGGAGTCGGAATCGTGGTGACCAGCTGCAAG Direct Gain 0 0.968249141849644 0 0.603978753089905 prediction 0.936498283699287 Functional Gain - NUDT15 ENSG00000136159 CDS Human protein_coding chr13:48611934 chr13:48611934 nonsynonymous SNV 0.144 4 21 hm1A_associated_SNPs_26739 1 drug response Thiopurines, poor metabolism of, 2 RCV000210850.1
1269 chr19 11097630 11097630 1 + C T LUAD 11097630 - 11097610 11097650 41 GGAGGCTGGCCTGGCATCCCGGGGGGCACGCCCGAGGGTCC GGAGGCTGGCCTGGCATCCCAGGGGGCACGCCCGAGGGTCC Direct Gain 0 0.96823878453842 0 0.188219517469406 prediction 0.93647756907684 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11097630 chr19:11097630 synonymous SNV . 0 21 hm1A_associated_SNPs_26741 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000233149.2
1269 chr5 1801627 1801627 1 + C A rs140619622 1801627 + 1801607 1801647 41 AGGTGTTTCGGGGTGCGGGTCTCGCCGACCGGGGAGAAGGT AGGTGTTTCGGGGTGCGGGTATCGCCGACCGGGGAGAAGGT Direct Gain 0 0.967851275423704 0 0.529217183589935 prediction 0.935702550847409 Functional Gain - NDUFS6 ENSG00000145494 CDS Human protein_coding chr5:1801627 chr5:1801627 synonymous SNV . 0 21 hm1A_associated_SNPs_26819 1 Likely benign not specified RCV000442508.1
1269 chr16 67671730 67671730 1 + C T SKCM 67671730 - 67671710 67671750 41 ATCTCGGGCGTGAGGTCTCCGTTGGGGGCATCTGTGGCAGC ATCTCGGGCGTGAGGTCTCCATTGGGGGCATCTGTGGCAGC Direct Gain 0 0.967767960512467 0 0.82951831817627 prediction 0.935535921024934 Functional Gain - CTCF ENSG00000102974 CDS Human protein_coding chr16:67671730 chr16:67671730 synonymous SNV . 0 21 hm1A_associated_SNPs_26841 1 Uncertain significance not specified RCV000193125.1
1269 chr4 6279350 6279350 1 + C T UCEC 6279350 - 6279330 6279370 41 GGTTCAGCGGGGGCCGCTGCGTCTCTAACACCAGGGCCAGG GGTTCAGCGGGGGCCGCTGCATCTCTAACACCAGGGCCAGG Direct Gain 0 0.967256579018772 0 0.100812405347824 prediction 0.934513158037544 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6279350 chr4:6279350 synonymous SNV . 0 21 hm1A_associated_SNPs_26969 2 Uncertain significance Nonsyndromic Hearing Loss, Dominant RCV000271264.1
1269 chr4 6279350 6279350 1 + C T UCEC 6279350 - 6279330 6279370 41 GGTTCAGCGGGGGCCGCTGCGTCTCTAACACCAGGGCCAGG GGTTCAGCGGGGGCCGCTGCATCTCTAACACCAGGGCCAGG Direct Gain 0 0.967256579018772 0 0.100812405347824 prediction 0.934513158037544 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6279350 chr4:6279350 synonymous SNV . 0 21 hm1A_associated_SNPs_26969 2 Uncertain significance WFS1-Related Spectrum Disorders RCV000358930.1
1269 chr18 20513338 20513338 1 + G A rs7244973 20513338 + 20513318 20513358 41 GGGCGGGTCCGGCCGCCTCCGAGCCCGGCCGGCAGCCCCCG GGGCGGGTCCGGCCGCCTCCAAGCCCGGCCGGCAGCCCCCG Direct Gain 0 0.967212000185147 0 0.956180691719055 prediction 0.934424000370293 Functional Gain - MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513338 chr18:20513338 . . 0 21 hm1A_associated_SNPs_26979 2 Likely benign Seckel syndrome RCV000292217.1
1269 chr18 20513338 20513338 1 + G A rs7244973 20513338 + 20513318 20513358 41 GGGCGGGTCCGGCCGCCTCCGAGCCCGGCCGGCAGCCCCCG GGGCGGGTCCGGCCGCCTCCAAGCCCGGCCGGCAGCCCCCG Direct Gain 0 0.967212000185147 0 0.956180691719055 prediction 0.934424000370293 Functional Gain - MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513338 chr18:20513338 . . 0 21 hm1A_associated_SNPs_26979 2 Likely benign Microcephaly with mental retardation and digital anomalies RCV000386896.1
1269 chr15 67457264 67457264 1 + C T UCEC 67457264 - 67457244 67457284 41 GACATGAGGGAGCCCCTTCCGATGGGACACCTGCAACCGGC GACATGAGGGAGCCCCTTCCAATGGGACACCTGCAACCGGC Direct Gain 0 0.967173431484684 0 0.168048441410065 prediction 0.934346862969368 Functional Gain - SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67457264 chr15:67457264 nonsynonymous SNV 0.999 4 21 hm1A_associated_SNPs_26987 1 Uncertain significance Thoracic aortic aneurysm and aortic dissection RCV000461162.1
1269 chr9 140729282 140729282 1 + C T CESC 140729282 - 140729262 140729302 41 TGCCGGCACTTGGGGGAGCCGCAGCGGCAGCTGAAGAGCTT TGCCGGCACTTGGGGGAGCCACAGCGGCAGCTGAAGAGCTT Direct Gain 0 0.967006018446871 0 0.374657094478607 prediction 0.934012036893742 Functional Gain - EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140729282 chr9:140729282 synonymous SNV . 0 21 hm1A_associated_SNPs_27031 1 Likely benign Chromosome 9q deletion syndrome RCV000371947.1
1269 chr11 76910708 76910708 1 + C T rs41298747 76910708 - 76910688 76910728 41 CCAGCGTGAAGCTGGGGGCCGTCGTTTTCGCTCCCCTGCAG CCAGCGTGAAGCTGGGGGCCATCGTTTTCGCTCCCCTGCAG Direct Gain 0 0.966983346723813 0 0.896573126316071 prediction 0.933966693447625 Functional Gain - MYO7A ENSG00000137474 CDS Human protein_coding chr11:76910708 chr11:76910708 nonsynonymous SNV 0.169 0 21 hm1A_associated_SNPs_27037 4 other not specified RCV000036159.4
1269 chr11 76910708 76910708 1 + C T rs41298747 76910708 - 76910688 76910728 41 CCAGCGTGAAGCTGGGGGCCGTCGTTTTCGCTCCCCTGCAG CCAGCGTGAAGCTGGGGGCCATCGTTTTCGCTCCCCTGCAG Direct Gain 0 0.966983346723813 0 0.896573126316071 prediction 0.933966693447625 Functional Gain - MYO7A ENSG00000137474 CDS Human protein_coding chr11:76910708 chr11:76910708 nonsynonymous SNV 0.169 0 21 hm1A_associated_SNPs_27037 4 Likely benign Retinitis pigmentosa-deafness syndrome RCV000289605.1
1269 chr11 76910708 76910708 1 + C T rs41298747 76910708 - 76910688 76910728 41 CCAGCGTGAAGCTGGGGGCCGTCGTTTTCGCTCCCCTGCAG CCAGCGTGAAGCTGGGGGCCATCGTTTTCGCTCCCCTGCAG Direct Gain 0 0.966983346723813 0 0.896573126316071 prediction 0.933966693447625 Functional Gain - MYO7A ENSG00000137474 CDS Human protein_coding chr11:76910708 chr11:76910708 nonsynonymous SNV 0.169 0 21 hm1A_associated_SNPs_27037 4 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000325844.1
1269 chr11 76910708 76910708 1 + C T rs41298747 76910708 - 76910688 76910728 41 CCAGCGTGAAGCTGGGGGCCGTCGTTTTCGCTCCCCTGCAG CCAGCGTGAAGCTGGGGGCCATCGTTTTCGCTCCCCTGCAG Direct Gain 0 0.966983346723813 0 0.896573126316071 prediction 0.933966693447625 Functional Gain - MYO7A ENSG00000137474 CDS Human protein_coding chr11:76910708 chr11:76910708 nonsynonymous SNV 0.169 0 21 hm1A_associated_SNPs_27037 4 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000384892.1
1269 chr11 2869062 2869062 1 + C T rs139893266 2869062 - 2869042 2869082 41 CTGCCGGGGGTGCTGCCACCGTGCAAGGAGAGCAGCTGGTG CTGCCGGGGGTGCTGCCACCATGCAAGGAGAGCAGCTGGTG Direct Gain 0 0.966939634755991 0 0.769989192485809 prediction 0.933879269511982 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2869062 chr11:2869062 synonymous SNV . 0 21 hm1A_associated_SNPs_27047 3 other not specified RCV000126441.3
1269 chr11 2869062 2869062 1 + C T rs139893266 2869062 - 2869042 2869082 41 CTGCCGGGGGTGCTGCCACCGTGCAAGGAGAGCAGCTGGTG CTGCCGGGGGTGCTGCCACCATGCAAGGAGAGCAGCTGGTG Direct Gain 0 0.966939634755991 0 0.769989192485809 prediction 0.933879269511982 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2869062 chr11:2869062 synonymous SNV . 0 21 hm1A_associated_SNPs_27047 3 Benign Long QT syndrome RCV000200765.3
1269 chr11 2869062 2869062 1 + C T rs139893266 2869062 - 2869042 2869082 41 CTGCCGGGGGTGCTGCCACCGTGCAAGGAGAGCAGCTGGTG CTGCCGGGGGTGCTGCCACCATGCAAGGAGAGCAGCTGGTG Direct Gain 0 0.966939634755991 0 0.769989192485809 prediction 0.933879269511982 Functional Gain - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2869062 chr11:2869062 synonymous SNV . 0 21 hm1A_associated_SNPs_27047 3 Likely benign Cardiovascular phenotype RCV000245982.1
1269 chr16 90001525 90001525 1 + C T rs61743676 90001525 - 90001505 90001545 41 ACCAGGTGGTTGAGGTCCCCGTAGGTGGGCGTGGCCAGCTT ACCAGGTGGTTGAGGTCCCCATAGGTGGGCGTGGCCAGCTT Direct Gain 0 0.966916601567195 0 0.996440887451172 prediction 0.93383320313439 Functional Gain - TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:90001525 chr16:90001525 synonymous SNV . 0 21 hm1A_associated_SNPs_27054 1 Likely benign not specified RCV000147854.2
1269 chr16 46723571 46723571 1 + G A rs144065502 46723571 + 46723551 46723591 41 AGCCTTTGCGCGCGGGTTTCGTTGACCCGCGGCGTTCACGG AGCCTTTGCGCGCGGGTTTCATTGACCCGCGGCGTTCACGG Direct Gain 0 0.96659045420922 0 0.592300951480865 prediction 0.933180908418441 Functional Gain - ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723571 chr16:46723571 . . 0 21 hm1A_associated_SNPs_27142 3 Likely benign not specified RCV000248011.1
1269 chr16 46723571 46723571 1 + G A rs144065502 46723571 + 46723551 46723591 41 AGCCTTTGCGCGCGGGTTTCGTTGACCCGCGGCGTTCACGG AGCCTTTGCGCGCGGGTTTCATTGACCCGCGGCGTTCACGG Direct Gain 0 0.96659045420922 0 0.592300951480865 prediction 0.933180908418441 Functional Gain - ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723571 chr16:46723571 . . 0 21 hm1A_associated_SNPs_27142 3 Uncertain significance Meier-Gorlin syndrome RCV000307066.1
1269 chr16 46723571 46723571 1 + G A rs144065502 46723571 + 46723551 46723591 41 AGCCTTTGCGCGCGGGTTTCGTTGACCCGCGGCGTTCACGG AGCCTTTGCGCGCGGGTTTCATTGACCCGCGGCGTTCACGG Direct Gain 0 0.96659045420922 0 0.592300951480865 prediction 0.933180908418441 Functional Gain - ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723571 chr16:46723571 . . 0 21 hm1A_associated_SNPs_27142 3 Likely benign Parkinson Disease, Dominant RCV000333503.1
1269 chr1 43904696 43904696 1 + C T UCEC 43904696 - 43904676 43904716 41 GAAGATGAGCAAGTTCTGCCGTAGGTACCATGCCAGGGCTG GAAGATGAGCAAGTTCTGCCATAGGTACCATGCCAGGGCTG Direct Gain 0 0.966509330271731 0 0.176340401172638 prediction 0.933018660543462 Functional Gain - SZT2 ENSG00000198198 CDS Human protein_coding chr1:43904696 chr1:43904696 nonsynonymous SNV 0.961 4 21 hm1A_associated_SNPs_27162 1 Likely pathogenic not provided RCV000493018.1
1269 chr18 77456018 77456018 1 + C T STAD 77456018 - 77455998 77456038 41 GCACCATGGACACGGTCGCCGTGGACAGCGGCACCTGCTGC GCACCATGGACACGGTCGCCATGGACAGCGGCACCTGCTGC Direct Gain 0 0.96601886645554 0 0.998041868209839 prediction 0.93203773291108 Functional Gain - CTDP1 ENSG00000060069 CDS Human protein_coding chr18:77456018 chr18:77456018 nonsynonymous SNV 0.026 4 21 hm1A_associated_SNPs_27298 1 Uncertain significance not specified RCV000444161.1
1269 chr10 73767211 73767211 1 + C T PRAD 73767211 - 73767191 73767231 41 CGAACGAGGAGCCGGTGCGCGTGGTGGCCATGAGCAGCACG CGAACGAGGAGCCGGTGCGCATGGTGGCCATGAGCAGCACG Direct Gain 0 0.965920682219965 0 0.894297361373901 prediction 0.931841364439929 Functional Gain - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767211 chr10:73767211 nonsynonymous SNV 0.997 4 21 hm1A_associated_SNPs_27325 1 Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000006420.4
1269 chr19 45206676 45206676 1 + G T rs186687142 45206676 - 45206656 45206696 41 GCGTGACGTTGTCCCCTTCGCTCGGCTGGGCAGGCTCCAGG GCGTGACGTTGTCCCCTTCGATCGGCTGGGCAGGCTCCAGG Direct Gain 0 0.96586817905108 0 0.929852366447449 prediction 0.931736358102159 Functional Gain - CEACAM16 ENSG00000213892 CDS Human protein_coding chr19:45206676 chr19:45206676 nonsynonymous SNV 0.000 1 21 hm1A_associated_SNPs_27341 1 Benign not specified RCV000221257.1
1269 chr20 31350238 31350238 1 + C T rs139762513 31350238 - 31350218 31350258 41 CGGCCGCGGAGCCGGGAGCAGCTGCTGCGAGGAAGCGGCGC CGGCCGCGGAGCCGGGAGCAACTGCTGCGAGGAAGCGGCGC Direct Gain 0 0.965562538057492 0 0.99302613735199 prediction 0.931125076114985 Functional Gain - DNMT3B ENSG00000088305 UTR5 Human protein_coding chr20:31350238 chr20:31350238 . . 0 21 hm1A_associated_SNPs_27411 1 Uncertain significance Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency RCV000378601.1
1269 chr12 121432032 121432032 1 + C T CESC 121432032 - 121432012 121432052 41 AGTTGTAGACACGCACCTCCGTGACGAGGTTGGAGCCCAGC AGTTGTAGACACGCACCTCCATGACGAGGTTGGAGCCCAGC Direct Gain 0 0.965401854193436 0 0.992185950279236 prediction 0.930803708386872 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121432032 chr12:121432032 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_27456 1 Pathogenic not provided RCV000255526.1
1269 chr14 102514260 102514260 1 + C T UCEC 102514260 - 102514240 102514280 41 CGCATCCAGGCAGGGCGCCCGTCGGACGTGGAGTCTGTCCT CGCATCCAGGCAGGGCGCCCATCGGACGTGGAGTCTGTCCT Direct Gain 0 0.965228205810421 0 0.770283579826355 prediction 0.930456411620842 Functional Gain - DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102514260 chr14:102514260 synonymous SNV . 0 21 hm1A_associated_SNPs_27505 1 Likely benign not specified RCV000421082.2
1269 chr1 147380140 147380140 1 + G A SARC 147380140 + 147380120 147380160 41 AGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTC AGGTGAATGAGCACTCCACCATCATCGGCAGAGTCTGGCTC Direct Gain 0 0.965099208341065 0 0.998162031173706 prediction 0.930198416682131 Functional Gain - GJA8 ENSG00000121634 CDS Human protein_coding chr1:147380140 chr1:147380140 nonsynonymous SNV 0.925 2 21 hm1A_associated_SNPs_27543 2 Uncertain significance Cataract 1 RCV000303032.1
1269 chr1 147380140 147380140 1 + G A SARC 147380140 + 147380120 147380160 41 AGGTGAATGAGCACTCCACCGTCATCGGCAGAGTCTGGCTC AGGTGAATGAGCACTCCACCATCATCGGCAGAGTCTGGCTC Direct Gain 0 0.965099208341065 0 0.998162031173706 prediction 0.930198416682131 Functional Gain - GJA8 ENSG00000121634 CDS Human protein_coding chr1:147380140 chr1:147380140 nonsynonymous SNV 0.925 2 21 hm1A_associated_SNPs_27543 2 Uncertain significance Zonular Pulverulent Cataract RCV000360114.1
1269 chr19 3110199 3110199 1 + C T rs61731116 3110199 - 3110179 3110219 41 TCCTCCGAGTAGCCGGCGCCGTGGATGATGCGCATCTGCTT TCCTCCGAGTAGCCGGCGCCATGGATGATGCGCATCTGCTT Direct Gain 0 0.965096277533699 0 0.989563882350922 prediction 0.930192555067397 Functional Gain - GNA11 ENSG00000088256 CDS Human protein_coding chr19:3110199 chr19:3110199 synonymous SNV . 0 21 hm1A_associated_SNPs_27544 1 Benign not specified RCV000245319.1
1269 chr9 137591908 137591908 1 + C T PAAD 137591908 - 137591888 137591928 41 CTTCCGGGCCAGGCTTCCCCGTGTGGTCCTCGTAGAGGAAG CTTCCGGGCCAGGCTTCCCCATGTGGTCCTCGTAGAGGAAG Direct Gain 0 0.964961103922356 0 0.995389997959137 prediction 0.929922207844712 Functional Gain - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137591908 chr9:137591908 nonsynonymous SNV 0.907 1 21 hm1A_associated_SNPs_27579 1 Likely benign not specified RCV000196676.3
1269 chr17 18058538 18058538 1 + C T rs143826293 18058538 - 18058518 18058558 41 GCAAGTGAGGGGCTCGCACCGTGGCGGGGAAGATGCGGGAG GCAAGTGAGGGGCTCGCACCATGGCGGGGAAGATGCGGGAG Direct Gain 0 0.964661129854941 0 0.985804975032806 prediction 0.929322259709883 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18058538 chr17:18058538 nonsynonymous SNV 0.372 1 21 hm1A_associated_SNPs_27674 1 Benign not specified RCV000038992.3
1269 chr2 71827889 71827889 1 + C T rs146970014 71827889 - 71827869 71827909 41 CAGTGGGAACCAGGCCAGCCGTGGCATCCGTTCCAGACTCG CAGTGGGAACCAGGCCAGCCATGGCATCCGTTCCAGACTCG Direct Gain 0 0.964647047957382 0 0.85453337430954 prediction 0.929294095914763 Functional Gain - DYSF ENSG00000135636 CDS Human protein_coding chr2:71827889 chr2:71827889 nonsynonymous SNV 0.850 4 21 hm1A_associated_SNPs_27678 1 Uncertain significance not specified RCV000177777.2
1269 chr15 40453431 40453431 1 + G A rs147549987 40453431 + 40453411 40453451 41 AGGAATGCAGGATGGCGGCGGTGAAGAAGGAAGGGGGTGCT AGGAATGCAGGATGGCGGCGATGAAGAAGGAAGGGGGTGCT Direct Gain 0 0.964118286455894 0 0.540406167507172 prediction 0.928236572911788 Functional Gain - BUB1B ENSG00000156970 CDS Human protein_coding chr15:40453431 chr15:40453431 nonsynonymous SNV 0.002 0 21 hm1A_associated_SNPs_27831 2 not provided not specified RCV000120414.1
1269 chr15 40453431 40453431 1 + G A rs147549987 40453431 + 40453411 40453451 41 AGGAATGCAGGATGGCGGCGGTGAAGAAGGAAGGGGGTGCT AGGAATGCAGGATGGCGGCGATGAAGAAGGAAGGGGGTGCT Direct Gain 0 0.964118286455894 0 0.540406167507172 prediction 0.928236572911788 Functional Gain - BUB1B ENSG00000156970 CDS Human protein_coding chr15:40453431 chr15:40453431 nonsynonymous SNV 0.002 0 21 hm1A_associated_SNPs_27831 2 Likely benign Mosaic variegated aneuploidy syndrome 1 RCV000475422.1
1269 chr14 96001624 96001624 1 + G A rs28680410 96001624 + 96001604 96001644 41 GGGACGCCGGAGCAGCCCCAGTGCGGCTTCAGCAACGCCGT GGGACGCCGGAGCAGCCCCAATGCGGCTTCAGCAACGCCGT Direct Gain 0 0.964085600109284 0 0.549596607685089 prediction 0.928171200218568 Functional Gain - GLRX5 ENSG00000182512 CDS Human protein_coding chr14:96001624 chr14:96001624 synonymous SNV . 0 21 hm1A_associated_SNPs_27841 1 Benign not specified RCV000428387.1
1269 chr8 100871596 100871596 1 + C T UCEC 100871596 - 100871576 100871616 41 CTGAAGAAGTCGGCGACCCCGTTCCCGATGCTTCTCACCAG CTGAAGAAGTCGGCGACCCCATTCCCGATGCTTCTCACCAG Direct Gain 0 0.964054216331897 0 0.939452052116394 prediction 0.928108432663795 Functional Gain - VPS13B ENSG00000132549 CDS Human protein_coding chr8:100871596 chr8:100871596 synonymous SNV . 0 21 hm1A_associated_SNPs_27850 1 Uncertain significance Cohen syndrome RCV000403552.1
1269 chr11 68675700 68675700 1 + C T rs181657861 68675700 - 68675680 68675720 41 GGGACTCATCAAAGGCCACCGTGACCGACTTCTGGGTGACC GGGACTCATCAAAGGCCACCATGACCGACTTCTGGGTGACC Direct Gain 0 0.963857112334365 0 0.995906949043274 prediction 0.927714224668731 Functional Gain - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68675700 chr11:68675700 nonsynonymous SNV 0.311 1 21 hm1A_associated_SNPs_27903 1 other not specified RCV000390927.2
1269 chr19 50912872 50912872 1 + C T rs201483538 50912872 - 50912852 50912892 41 ACCTGGGCGCCAGTGAAGCCGTATACGGAGTTGGCGCTCAC ACCTGGGCGCCAGTGAAGCCATATACGGAGTTGGCGCTCAC Direct Gain 0 0.963846995078267 0 0.971752643585205 prediction 0.927693990156534 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912872 chr19:50912872 synonymous SNV . 0 21 hm1A_associated_SNPs_27909 2 Benign Colorectal cancer 10 RCV000231772.2
1269 chr19 50912872 50912872 1 + C T rs201483538 50912872 - 50912852 50912892 41 ACCTGGGCGCCAGTGAAGCCGTATACGGAGTTGGCGCTCAC ACCTGGGCGCCAGTGAAGCCATATACGGAGTTGGCGCTCAC Direct Gain 0 0.963846995078267 0 0.971752643585205 prediction 0.927693990156534 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912872 chr19:50912872 synonymous SNV . 0 21 hm1A_associated_SNPs_27909 2 Likely benign not specified RCV000434365.1
1269 chr11 67814961 67814961 1 + C T STAD 67814961 - 67814941 67814981 41 AACAGGAACATGAGCAGCCCGTGGCCCACATCCCCGAACAT AACAGGAACATGAGCAGCCCATGGCCCACATCCCCGAACAT Direct Gain 0 0.963626352896251 0 0.970025241374969 prediction 0.927252705792502 Functional Gain - TCIRG1 ENSG00000110719 CDS Human protein_coding chr11:67814961 chr11:67814961 synonymous SNV . 0 21 hm1A_associated_SNPs_27981 1 Uncertain significance Osteopetrosis RCV000368475.1
1269 chr9 137698079 137698079 1 + C T COAD 137698079 - 137698059 137698099 41 CCAGGTCTCCCTGGAATTCCGATGGGCCCAGCGGCTCCAGC CCAGGTCTCCCTGGAATTCCAATGGGCCCAGCGGCTCCAGC Direct Gain 0 0.963517651903125 0 0.0433326959609985 prediction 0.92703530380625 Functional Gain - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137698079 chr9:137698079 synonymous SNV . 0 21 hm1A_associated_SNPs_28015 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000241825.1
1269 chr9 137698079 137698079 1 + C T COAD 137698079 - 137698059 137698099 41 CCAGGTCTCCCTGGAATTCCGATGGGCCCAGCGGCTCCAGC CCAGGTCTCCCTGGAATTCCAATGGGCCCAGCGGCTCCAGC Direct Gain 0 0.963517651903125 0 0.0433326959609985 prediction 0.92703530380625 Functional Gain - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137698079 chr9:137698079 synonymous SNV . 0 21 hm1A_associated_SNPs_28015 2 Likely benign Ehlers-Danlos syndrome, classic type RCV000457562.1
1269 chr11 279481 279481 1 + G A rs199475795 279481 + 279461 279501 41 GGCTGGAGCGCGCGGACGCCGTGGACCTCGCGGAGCAGCTG GGCTGGAGCGCGCGGACGCCATGGACCTCGCGGAGCAGCTG Direct Gain 0 0.963441074637511 0 0.999634742736816 prediction 0.926882149275022 Functional Gain - NLRP6 ENSG00000174885 CDS Human protein_coding chr11:279481 chr11:279481 nonsynonymous SNV 0.007 0 21 hm1A_associated_SNPs_28033 1 not provided not provided RCV000089491.1
1269 chr17 68171379 68171379 1 + C T UCEC 68171379 - 68171359 68171399 41 GAAGATGTCTGCGAGGTACCGTTGCCCCTTCTCACCCACAT GAAGATGTCTGCGAGGTACCATTGCCCCTTCTCACCCACAT Direct Gain 0 0.963377098737178 0 0.99675464630127 prediction 0.926754197474356 Functional Gain - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171379 chr17:68171379 nonsynonymous SNV 0.989 5 21 hm1A_associated_SNPs_28049 3 Pathogenic Andersen Tawil syndrome RCV000009478.2
1269 chr17 68171379 68171379 1 + C T UCEC 68171379 - 68171359 68171399 41 GAAGATGTCTGCGAGGTACCGTTGCCCCTTCTCACCCACAT GAAGATGTCTGCGAGGTACCATTGCCCCTTCTCACCCACAT Direct Gain 0 0.963377098737178 0 0.99675464630127 prediction 0.926754197474356 Functional Gain - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171379 chr17:68171379 nonsynonymous SNV 0.989 5 21 hm1A_associated_SNPs_28049 3 not provided Congenital long QT syndrome RCV000058294.3
1269 chr17 68171379 68171379 1 + C T UCEC 68171379 - 68171359 68171399 41 GAAGATGTCTGCGAGGTACCGTTGCCCCTTCTCACCCACAT GAAGATGTCTGCGAGGTACCATTGCCCCTTCTCACCCACAT Direct Gain 0 0.963377098737178 0 0.99675464630127 prediction 0.926754197474356 Functional Gain - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171379 chr17:68171379 nonsynonymous SNV 0.989 5 21 hm1A_associated_SNPs_28049 3 Pathogenic not provided RCV000170971.5
1269 chr15 67358470 67358470 1 + C T rs36221703 67358470 - 67358450 67358490 41 CTGGGGAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGG CTGGGGAGGGCGCGCGGGCGACGAGGAGCGCCCCCGGCGGG Direct Gain 0 0.963346532408668 0 0.811235308647156 prediction 0.926693064817336 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358470 chr15:67358470 . . 0 21 hm1A_associated_SNPs_28054 3 Benign not specified RCV000128167.3
1269 chr15 67358470 67358470 1 + C T rs36221703 67358470 - 67358450 67358490 41 CTGGGGAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGG CTGGGGAGGGCGCGCGGGCGACGAGGAGCGCCCCCGGCGGG Direct Gain 0 0.963346532408668 0 0.811235308647156 prediction 0.926693064817336 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358470 chr15:67358470 . . 0 21 hm1A_associated_SNPs_28054 3 Benign Loeys-Dietz syndrome RCV000264993.1
1269 chr15 67358470 67358470 1 + C T rs36221703 67358470 - 67358450 67358490 41 CTGGGGAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGG CTGGGGAGGGCGCGCGGGCGACGAGGAGCGCCCCCGGCGGG Direct Gain 0 0.963346532408668 0 0.811235308647156 prediction 0.926693064817336 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358470 chr15:67358470 . . 0 21 hm1A_associated_SNPs_28054 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000323863.1
1269 chr19 50783605 50783605 1 + C T rs115019972 50783605 - 50783585 50783625 41 CTGCAGTTCACGGCCCGCCCGTTCCCTGGCAGCTGCCTCCT CTGCAGTTCACGGCCCGCCCATTCCCTGGCAGCTGCCTCCT Direct Gain 0 0.962851673994806 0 0.982835710048676 prediction 0.925703347989613 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50783605 chr19:50783605 nonsynonymous SNV 0.951 3 21 hm1A_associated_SNPs_28188 1 Benign not specified RCV000151193.1
1269 chr12 9075258 9075258 1 + C T rs142253130 9075258 - 9075238 9075278 41 ACATTCCGACCCAGGGTTCGGTTTACCTGCAATAGGTTTCC ACATTCCGACCCAGGGTTCGATTTACCTGCAATAGGTTTCC Direct Gain 0 0.962793899093199 0 0.231008440256119 prediction 0.925587798186398 Functional Gain - PHC1 ENSG00000111752 CDS Human protein_coding chr12:9075258 chr12:9075258 synonymous SNV . 0 21 hm1A_associated_SNPs_28213 1 Uncertain significance not specified RCV000194446.1
1269 chr17 48245055 48245055 1 + C T COAD 48245055 - 48245035 48245075 41 TCTTCTGGGGTGGCAGAGCCGTAGAGGAAGCCAGGGTGGTG TCTTCTGGGGTGGCAGAGCCATAGAGGAAGCCAGGGTGGTG Direct Gain 0 0.9624950789762 0 0.238999456167221 prediction 0.9249901579524 Functional Gain - SGCA ENSG00000108823 CDS Human protein_coding chr17:48245055 chr17:48245055 synonymous SNV . 0 21 hm1A_associated_SNPs_28309 1 Uncertain significance not specified RCV000303667.1
1269 chr5 131705587 131705587 1 + C T rs13180043 131705587 - 131705567 131705607 41 CGCGTGCGCGCGGGGCACCCGCCGCCGACCAGGCAAGCCAG CGCGTGCGCGCGGGGCACCCACCGCCGACCAGGCAAGCCAG Direct Gain 0 0.96246839965346 0 0.975870966911316 prediction 0.924936799306919 Functional Gain - MIR3936HG ENSG00000233006 ncRNA_exonic Human processed_transcript chr5:131705587 chr5:131705587 . . 0 21 hm1A_associated_SNPs_28323 1 Likely benign Renal carnitine transport defect RCV000022288.3
1269 chr19 1226523 1226523 1 + C T UCEC 1226523 - 1226503 1226543 41 AGCTGCGCCGCCTCTGTGCCGTTCATACACACGGCCTTGGG AGCTGCGCCGCCTCTGTGCCATTCATACACACGGCCTTGGG Direct Gain 0 0.962451350927742 0 0.884964227676392 prediction 0.924902701855483 Functional Gain - STK11 ENSG00000118046 CDS Human protein_coding chr19:1226523 chr19:1226523 synonymous SNV . 0 21 hm1A_associated_SNPs_28333 1 Likely benign Peutz-Jeghers syndrome RCV000198229.1
1269 chr1 7723588 7723588 1 + C T rs3737906 7723588 - 7723568 7723608 41 ACGGGCTTGGCCACCTTGCCGTTCCTCTTCTCACGGCTGGA ACGGGCTTGGCCACCTTGCCATTCCTCTTCTCACGGCTGGA Direct Gain 0 0.962265161082231 0 0.999646663665771 prediction 0.924530322164463 Functional Gain - CAMTA1 ENSG00000171735 CDS Human protein_coding chr1:7723588 chr1:7723588 synonymous SNV . 0 21 hm1A_associated_SNPs_28400 1 Likely benign not specified RCV000116538.2
1269 chr6 7585976 7585976 1 + C T rs151029175 7585976 - 7585956 7585996 41 CGAGATCCCGAGCGGGAGCCGGAGCGGGACCCCGGAGCCGA CGAGATCCCGAGCGGGAGCCAGAGCGGGACCCCGGAGCCGA Direct Gain 0 0.962237760130061 0 0.988515019416809 prediction 0.924475520260123 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585976 chr6:7585976 synonymous SNV . 0 21 hm1A_associated_SNPs_28404 7 Benign not specified RCV000038108.3
1269 chr6 7585976 7585976 1 + C T rs151029175 7585976 - 7585956 7585996 41 CGAGATCCCGAGCGGGAGCCGGAGCGGGACCCCGGAGCCGA CGAGATCCCGAGCGGGAGCCAGAGCGGGACCCCGGAGCCGA Direct Gain 0 0.962237760130061 0 0.988515019416809 prediction 0.924475520260123 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585976 chr6:7585976 synonymous SNV . 0 21 hm1A_associated_SNPs_28404 7 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000228915.2
1269 chr6 7585976 7585976 1 + C T rs151029175 7585976 - 7585956 7585996 41 CGAGATCCCGAGCGGGAGCCGGAGCGGGACCCCGGAGCCGA CGAGATCCCGAGCGGGAGCCAGAGCGGGACCCCGGAGCCGA Direct Gain 0 0.962237760130061 0 0.988515019416809 prediction 0.924475520260123 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585976 chr6:7585976 synonymous SNV . 0 21 hm1A_associated_SNPs_28404 7 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000228915.2
1269 chr6 7585976 7585976 1 + C T rs151029175 7585976 - 7585956 7585996 41 CGAGATCCCGAGCGGGAGCCGGAGCGGGACCCCGGAGCCGA CGAGATCCCGAGCGGGAGCCAGAGCGGGACCCCGGAGCCGA Direct Gain 0 0.962237760130061 0 0.988515019416809 prediction 0.924475520260123 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585976 chr6:7585976 synonymous SNV . 0 21 hm1A_associated_SNPs_28404 7 Likely benign Skin fragility woolly hair syndrome RCV000274286.1
1269 chr6 7585976 7585976 1 + C T rs151029175 7585976 - 7585956 7585996 41 CGAGATCCCGAGCGGGAGCCGGAGCGGGACCCCGGAGCCGA CGAGATCCCGAGCGGGAGCCAGAGCGGGACCCCGGAGCCGA Direct Gain 0 0.962237760130061 0 0.988515019416809 prediction 0.924475520260123 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585976 chr6:7585976 synonymous SNV . 0 21 hm1A_associated_SNPs_28404 7 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000334210.1
1269 chr6 7585976 7585976 1 + C T rs151029175 7585976 - 7585956 7585996 41 CGAGATCCCGAGCGGGAGCCGGAGCGGGACCCCGGAGCCGA CGAGATCCCGAGCGGGAGCCAGAGCGGGACCCCGGAGCCGA Direct Gain 0 0.962237760130061 0 0.988515019416809 prediction 0.924475520260123 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585976 chr6:7585976 synonymous SNV . 0 21 hm1A_associated_SNPs_28404 7 Likely benign Cardiomyopathy, ARVC RCV000368820.1
1269 chr6 7585976 7585976 1 + C T rs151029175 7585976 - 7585956 7585996 41 CGAGATCCCGAGCGGGAGCCGGAGCGGGACCCCGGAGCCGA CGAGATCCCGAGCGGGAGCCAGAGCGGGACCCCGGAGCCGA Direct Gain 0 0.962237760130061 0 0.988515019416809 prediction 0.924475520260123 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585976 chr6:7585976 synonymous SNV . 0 21 hm1A_associated_SNPs_28404 7 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000388663.1
1269 chr21 47545865 47545865 1 + C T rs114554195 47545865 - 47545845 47545885 41 CGGCTCTCCTTGATGAGGCGGTCGTAGGCAAACTTGAGGGC CGGCTCTCCTTGATGAGGCGATCGTAGGCAAACTTGAGGGC Direct Gain 0 0.962149423127355 0 0.810455918312073 prediction 0.92429884625471 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545865 chr21:47545865 synonymous SNV . 0 21 hm1A_associated_SNPs_28433 1 other not specified RCV000079872.6
1269 chr3 181430118 181430118 1 + C T rs56073304 181430118 - 181430098 181430138 41 TGCGCGGGCCCGGCCCGCCGGCGGCCGCCGACCCTCGGCCC TGCGCGGGCCCGGCCCGCCGACGGCCGCCGACCCTCGGCCC Direct Gain 0 0.96197977819507 0 0.926373541355133 prediction 0.923959556390141 Functional Gain - SOX2-OT ENSG00000242808 ncRNA_intronic Human sense_overlapping chr3:181430118 chr3:181430118 . . 0 21 hm1A_associated_SNPs_28483 1 Benign not specified RCV000440682.1
1269 chr2 71797812 71797812 1 + C T LUAD 71797812 - 71797792 71797832 41 CAGGCGCACCCAGCGCCGCCGTCGGTGTGTGTAGTACATCT CAGGCGCACCCAGCGCCGCCATCGGTGTGTGTAGTACATCT Direct Gain 0 0.961955851182912 0 0.980844438076019 prediction 0.923911702365824 Functional Gain - DYSF ENSG00000135636 CDS Human protein_coding chr2:71797812 chr2:71797812 nonsynonymous SNV 0.954 4 21 hm1A_associated_SNPs_28492 1 Uncertain significance not specified RCV000351237.1
1269 chr7 299836 299836 1 + C T UCEC 299836 - 299816 299856 41 CTTTAGCACGACGCGGAGCCGCCGGTCCAGGGCCTCCAGGT CTTTAGCACGACGCGGAGCCACCGGTCCAGGGCCTCCAGGT Direct Gain 0 0.96189571890281 0 0.788664817810059 prediction 0.923791437805621 Functional Gain - FAM20C ENSG00000177706 CDS Human protein_coding chr7:299836 chr7:299836 nonsynonymous SNV 0.846 4 21 hm1A_associated_SNPs_28515 1 Pathogenic Raine syndrome RCV000001080.3
1269 chr15 99459278 99459278 1 + C T rs45506098 99459278 - 99459258 99459298 41 ATGTAGTAACTCAGGTTGCCGTTGGGCAGAGAGGGAGGGTT ATGTAGTAACTCAGGTTGCCATTGGGCAGAGAGGGAGGGTT Direct Gain 0 0.961645504592593 0 0.638561725616455 prediction 0.923291009185185 Functional Gain - IGF1R ENSG00000140443 CDS Human protein_coding chr15:99459278 chr15:99459278 synonymous SNV . 0 21 hm1A_associated_SNPs_28592 1 Benign not specified RCV000180532.1
1269 chr19 1912594 1912594 1 + C T rs139117131 1912594 - 1912574 1912614 41 GCATGGCGGCGCGCTCCTGCGTGGAGAAGAGCCGCCCAGCC GCATGGCGGCGCGCTCCTGCATGGAGAAGAGCCGCCCAGCC Direct Gain 0 0.961498108794759 0 0.959857225418091 prediction 0.922996217589518 Functional Gain - ADAT3 ENSG00000213638 CDS Human protein_coding chr19:1912594 chr19:1912594 nonsynonymous SNV 0.001 0 21 hm1A_associated_SNPs_28640 1 Uncertain significance not provided RCV000488362.1
1269 chr8 11614568 11614568 1 + C T UCEC 11614568 - 11614548 11614588 41 GACACGGAGCTGCTGTGCCCGTAGTGAGATGACAGGCCAGG GACACGGAGCTGCTGTGCCCATAGTGAGATGACAGGCCAGG Direct Gain 0 0.961372639584499 0 0.96367609500885 prediction 0.922745279168999 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11614568 chr8:11614568 synonymous SNV . 0 21 hm1A_associated_SNPs_28669 1 Benign Atrioventricular septal defect 4 RCV000461804.1
1269 chr1 237754082 237754082 1 + C T COAD 237754082 - 237754062 237754102 41 CAGGGAGCCCTCCAGCCACCGTCTTGGAGAAGACCTCCGCG CAGGGAGCCCTCCAGCCACCATCTTGGAGAAGACCTCCGCG Direct Gain 0 0.961371258595843 0 0.994055390357971 prediction 0.922742517191687 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237754082 chr1:237754082 nonsynonymous SNV 0.696 1 21 hm1A_associated_SNPs_28670 1 Uncertain significance not specified RCV000182717.1
1269 chr6 47445714 47445714 1 + G A rs532229799 47445714 + 47445694 47445734 41 ACCGCGGTCGGGCGGGCGGGGTAGGGCCCTCCCGCCGCCGT ACCGCGGTCGGGCGGGCGGGATAGGGCCCTCCCGCCGCCGT Direct Gain 0 0.961048103636832 0 0.935437262058258 prediction 0.922096207273665 Functional Gain - CD2AP ENSG00000198087 UTR5 Human protein_coding chr6:47445714 chr6:47445714 . . 0 21 hm1A_associated_SNPs_28766 1 Likely benign Focal segmental glomerulosclerosis RCV000262646.1
1269 chr16 88873770 88873770 1 + C T rs200672589 88873770 - 88873750 88873790 41 GCGGGCCAGCTCAGGCAGCCGTTCTAAGCGCTGCAGCCGCT GCGGGCCAGCTCAGGCAGCCATTCTAAGCGCTGCAGCCGCT Direct Gain 0 0.960832508506104 0 0.712288200855255 prediction 0.921665017012209 Functional Gain - CDT1 ENSG00000167513 CDS Human protein_coding chr16:88873770 chr16:88873770 nonsynonymous SNV 0.804 5 21 hm1A_associated_SNPs_28860 1 Uncertain significance not specified RCV000504305.1
1269 chr2 71192263 71192263 1 + G A rs77794859 71192263 + 71192243 71192283 41 GCGCTCTAGCCCCGCGCGCCGTGGCACCCCAACACCGGCAG GCGCTCTAGCCCCGCGCGCCATGGCACCCCAACACCGGCAG Direct Gain 0 0.960806697407921 0 0.971843838691711 prediction 0.921613394815841 Functional Gain - ATP6V1B1 ENSG00000116039 UTR3 Human protein_coding chr2:71192263 chr2:71192263 . . 0 21 hm1A_associated_SNPs_28867 2 Benign not specified RCV000037199.2
1269 chr2 71192263 71192263 1 + G A rs77794859 71192263 + 71192243 71192283 41 GCGCTCTAGCCCCGCGCGCCGTGGCACCCCAACACCGGCAG GCGCTCTAGCCCCGCGCGCCATGGCACCCCAACACCGGCAG Direct Gain 0 0.960806697407921 0 0.971843838691711 prediction 0.921613394815841 Functional Gain - ATP6V1B1 ENSG00000116039 UTR3 Human protein_coding chr2:71192263 chr2:71192263 . . 0 21 hm1A_associated_SNPs_28867 2 Likely benign Renal tubular acidosis with progressive nerve deafness RCV000356862.1
1269 chr15 67073549 67073549 1 + C T rs12591946 67073549 - 67073529 67073569 41 TCCTTGCTGAGCAGGATGCCGAAGCCGATCTTGCTGCGCGT TCCTTGCTGAGCAGGATGCCAAAGCCGATCTTGCTGCGCGT Direct Gain 0 0.960786242209685 0 0.832329034805298 prediction 0.921572484419371 Functional Gain - SMAD6 ENSG00000137834 CDS Human protein_coding chr15:67073549 chr15:67073549 synonymous SNV . 0 21 hm1A_associated_SNPs_28874 1 Benign Aortic valve disease 2 RCV000456254.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000162461.3
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic not provided RCV000237013.2
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Glioblastoma RCV000417610.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000419372.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Acute myeloid leukemia RCV000420028.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Neoplasm of brain RCV000421040.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Squamous cell carcinoma of lung RCV000421688.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Colorectal Neoplasms RCV000425628.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Small cell lung cancer RCV000426825.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Neoplasm of the breast RCV000427448.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Adrenocortical carcinoma RCV000428519.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000430781.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Pancreatic adenocarcinoma RCV000431915.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Adenocarcinoma of lung RCV000432405.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Malignant melanoma of skin RCV000433024.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Squamous cell carcinoma of the skin RCV000436631.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Hepatocellular carcinoma RCV000438105.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Renal cell carcinoma RCV000438666.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Transitional cell carcinoma of the bladder RCV000439150.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Adenocarcinoma of stomach RCV000441098.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Oesophageal carcinoma RCV000442735.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Likely pathogenic Brainstem glioma RCV000443535.1
1269 chr17 7579313 7579313 1 + G A HNSC 7579313 + 7579293 7579333 41 GCCCCTCAGGGCAACTGACCGTGCAAGTCACAGACTTGGCT GCCCCTCAGGGCAACTGACCATGCAAGTCACAGACTTGGCT Direct Gain 0 0.960620508772771 0 0.999518513679504 prediction 0.921241017545541 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579313 chr17:7579313 nonsynonymous SNV 0.986 5 21 hm1A_associated_SNPs_28936 23 Uncertain significance Li-Fraumeni syndrome RCV000457119.1
1269 chr14 96001666 96001666 1 + C T rs28611006 96001666 - 96001646 96001686 41 GCCGCGTAATCGCGGACGCCGTGCAGCCGCAGGATCTGCAC GCCGCGTAATCGCGGACGCCATGCAGCCGCAGGATCTGCAC Direct Gain 0 0.960515498914821 0 0.96377420425415 prediction 0.921030997829641 Functional Gain - GLRX5 ENSG00000182512 CDS Human protein_coding chr14:96001666 chr14:96001666 synonymous SNV . 0 21 hm1A_associated_SNPs_28972 1 Benign not specified RCV000438584.1
1269 chr16 23391912 23391912 1 + C T COAD 23391912 - 23391892 23391932 41 ACGGTGGGCGGTGGGCCAGCGTAGCTGGCTTGGGCTCGCCG ACGGTGGGCGGTGGGCCAGCATAGCTGGCTTGGGCTCGCCG Direct Gain 0 0.960456233550444 0 0.4921954870224 prediction 0.920912467100887 Functional Gain - SCNN1B ENSG00000168447 CDS Human protein_coding chr16:23391912 chr16:23391912 synonymous SNV . 0 21 hm1A_associated_SNPs_28989 3 Uncertain significance Pseudohypoaldosteronism, Type I, Recessive RCV000262545.1
1269 chr16 23391912 23391912 1 + C T COAD 23391912 - 23391892 23391932 41 ACGGTGGGCGGTGGGCCAGCGTAGCTGGCTTGGGCTCGCCG ACGGTGGGCGGTGGGCCAGCATAGCTGGCTTGGGCTCGCCG Direct Gain 0 0.960456233550444 0 0.4921954870224 prediction 0.920912467100887 Functional Gain - SCNN1B ENSG00000168447 CDS Human protein_coding chr16:23391912 chr16:23391912 synonymous SNV . 0 21 hm1A_associated_SNPs_28989 3 Uncertain significance Pseudoprimary hyperaldosteronism RCV000301289.1
1269 chr16 23391912 23391912 1 + C T COAD 23391912 - 23391892 23391932 41 ACGGTGGGCGGTGGGCCAGCGTAGCTGGCTTGGGCTCGCCG ACGGTGGGCGGTGGGCCAGCATAGCTGGCTTGGGCTCGCCG Direct Gain 0 0.960456233550444 0 0.4921954870224 prediction 0.920912467100887 Functional Gain - SCNN1B ENSG00000168447 CDS Human protein_coding chr16:23391912 chr16:23391912 synonymous SNV . 0 21 hm1A_associated_SNPs_28989 3 Uncertain significance Bronchiectasis with or without elevated sweat chloride 1 RCV000359654.1
1269 chr3 122002627 122002627 1 + C T COAD 122002627 - 122002607 122002647 41 GTGCGATCCCAAAGGGCTCCGTCCACGACAGAAACTCGATC GTGCGATCCCAAAGGGCTCCATCCACGACAGAAACTCGATC Direct Gain 0 0.960349541542607 0 0.9995197057724 prediction 0.920699083085214 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122002627 chr3:122002627 nonsynonymous SNV 0.767 4 21 hm1A_associated_SNPs_29025 2 Uncertain significance Hypocalcemia, autosomal dominant 1 RCV000465141.1
1269 chr3 122002627 122002627 1 + C T COAD 122002627 - 122002607 122002647 41 GTGCGATCCCAAAGGGCTCCGTCCACGACAGAAACTCGATC GTGCGATCCCAAAGGGCTCCATCCACGACAGAAACTCGATC Direct Gain 0 0.960349541542607 0 0.9995197057724 prediction 0.920699083085214 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122002627 chr3:122002627 nonsynonymous SNV 0.767 4 21 hm1A_associated_SNPs_29025 2 Uncertain significance Hypocalciuric hypercalcemia, familial, type 1 RCV000465141.1
1269 chr17 2497192 2497192 1 + C T rs193158967 2497192 - 2497172 2497212 41 GAAGGAGGGAGGGAGGGAAGGAGGGGGGAGGATGGCGCGCT GAAGGAGGGAGGGAGGGAAGAAGGGGGGAGGATGGCGCGCT Direct Gain 0 0.960096681455464 0 0.635389566421509 prediction 0.920193362910928 Functional Gain - PAFAH1B1 ENSG00000007168 UTR5 Human protein_coding chr17:2497192 chr17:2497192 . . 0 21 hm1A_associated_SNPs_29115 1 Benign Lissencephaly/Subcortical Band Heterotopia RCV000259360.1
1269 chr19 47259274 47259274 1 + C T rs201454433 47259274 - 47259254 47259294 41 CCGTCCAGGGCGTCGCAGCGGGGCGCGGCGGGGGCTGCGCC CCGTCCAGGGCGTCGCAGCGAGGCGCGGCGGGGGCTGCGCC Direct Gain 0 0.959964351741962 0 0.810905694961548 prediction 0.919928703483923 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259274 chr19:47259274 synonymous SNV . 0 21 hm1A_associated_SNPs_29159 2 other not specified RCV000254084.3
1269 chr19 47259274 47259274 1 + C T rs201454433 47259274 - 47259254 47259294 41 CCGTCCAGGGCGTCGCAGCGGGGCGCGGCGGGGGCTGCGCC CCGTCCAGGGCGTCGCAGCGAGGCGCGGCGGGGGCTGCGCC Direct Gain 0 0.959964351741962 0 0.810905694961548 prediction 0.919928703483923 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259274 chr19:47259274 synonymous SNV . 0 21 hm1A_associated_SNPs_29159 2 Benign Walker-Warburg congenital muscular dystrophy RCV000472615.1
1269 chr1 981345 981345 1 + C T rs118105080 981345 - 981325 981365 41 CAGGTCGCAGGCGCAGAAGCGTCTGGGGCACGGGCATGGGA CAGGTCGCAGGCGCAGAAGCATCTGGGGCACGGGCATGGGA Direct Gain 0 0.959902692889846 0 0.336704790592194 prediction 0.919805385779692 Functional Gain - AGRN ENSG00000188157 CDS Human protein_coding chr1:981345 chr1:981345 synonymous SNV . 0 21 hm1A_associated_SNPs_29188 1 Likely benign not specified RCV000252248.1
1269 chr15 38545294 38545294 1 + C T rs192699510 38545294 - 38545274 38545314 41 GGCAGGAGGCAGCGGCGGCCGGGGGGGCGCGGGGGCAGCGG GGCAGGAGGCAGCGGCGGCCAGGGGGGCGCGGGGGCAGCGG Direct Gain 0 0.959891560721795 0 0.991438150405884 prediction 0.91978312144359 Functional Gain - SPRED1 ENSG00000166068 UTR5 Human protein_coding chr15:38545294 chr15:38545294 . . 0 21 hm1A_associated_SNPs_29193 1 Likely benign Legius syndrome RCV000271573.1
1269 chr12 2224511 2224511 1 + C T rs34419050 2224511 - 2224491 2224531 41 AGCTTAGCCTGCCGGGCTGCGTCGATGGCCGCCTGCCACGA AGCTTAGCCTGCCGGGCTGCATCGATGGCCGCCTGCCACGA Direct Gain 0 0.959872441190906 0 0.116844713687897 prediction 0.919744882381813 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2224511 chr12:2224511 synonymous SNV . 0 21 hm1A_associated_SNPs_29199 6 Benign Cardiac arrhythmia RCV000029419.1
1269 chr12 2224511 2224511 1 + C T rs34419050 2224511 - 2224491 2224531 41 AGCTTAGCCTGCCGGGCTGCGTCGATGGCCGCCTGCCACGA AGCTTAGCCTGCCGGGCTGCATCGATGGCCGCCTGCCACGA Direct Gain 0 0.959872441190906 0 0.116844713687897 prediction 0.919744882381813 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2224511 chr12:2224511 synonymous SNV . 0 21 hm1A_associated_SNPs_29199 6 Benign not specified RCV000079279.5
1269 chr12 2224511 2224511 1 + C T rs34419050 2224511 - 2224491 2224531 41 AGCTTAGCCTGCCGGGCTGCGTCGATGGCCGCCTGCCACGA AGCTTAGCCTGCCGGGCTGCATCGATGGCCGCCTGCCACGA Direct Gain 0 0.959872441190906 0 0.116844713687897 prediction 0.919744882381813 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2224511 chr12:2224511 synonymous SNV . 0 21 hm1A_associated_SNPs_29199 6 Benign Long QT syndrome RCV000205452.3
1269 chr12 2224511 2224511 1 + C T rs34419050 2224511 - 2224491 2224531 41 AGCTTAGCCTGCCGGGCTGCGTCGATGGCCGCCTGCCACGA AGCTTAGCCTGCCGGGCTGCATCGATGGCCGCCTGCCACGA Direct Gain 0 0.959872441190906 0 0.116844713687897 prediction 0.919744882381813 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2224511 chr12:2224511 synonymous SNV . 0 21 hm1A_associated_SNPs_29199 6 Benign Cardiovascular phenotype RCV000242482.1
1269 chr12 2224511 2224511 1 + C T rs34419050 2224511 - 2224491 2224531 41 AGCTTAGCCTGCCGGGCTGCGTCGATGGCCGCCTGCCACGA AGCTTAGCCTGCCGGGCTGCATCGATGGCCGCCTGCCACGA Direct Gain 0 0.959872441190906 0 0.116844713687897 prediction 0.919744882381813 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2224511 chr12:2224511 synonymous SNV . 0 21 hm1A_associated_SNPs_29199 6 Likely benign Timothy syndrome RCV000266437.1
1269 chr12 2224511 2224511 1 + C T rs34419050 2224511 - 2224491 2224531 41 AGCTTAGCCTGCCGGGCTGCGTCGATGGCCGCCTGCCACGA AGCTTAGCCTGCCGGGCTGCATCGATGGCCGCCTGCCACGA Direct Gain 0 0.959872441190906 0 0.116844713687897 prediction 0.919744882381813 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2224511 chr12:2224511 synonymous SNV . 0 21 hm1A_associated_SNPs_29199 6 Likely benign Brugada syndrome RCV000302879.1
1269 chr20 43058189 43058189 1 + C T SKCM 43058189 - 43058169 43058209 41 AGACCCTGAGCCACCTGGCGGTGAGGGCTGTGGGGTCTCAG AGACCCTGAGCCACCTGGCGATGAGGGCTGTGGGGTCTCAG Direct Gain 0 0.959863997107211 0 0.869962573051453 prediction 0.919727994214422 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43058189 chr20:43058189 nonsynonymous SNV 0.990 2 21 hm1A_associated_SNPs_29204 3 Likely benign not specified RCV000192779.1
1269 chr20 43058189 43058189 1 + C T SKCM 43058189 - 43058169 43058209 41 AGACCCTGAGCCACCTGGCGGTGAGGGCTGTGGGGTCTCAG AGACCCTGAGCCACCTGGCGATGAGGGCTGTGGGGTCTCAG Direct Gain 0 0.959863997107211 0 0.869962573051453 prediction 0.919727994214422 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43058189 chr20:43058189 nonsynonymous SNV 0.990 2 21 hm1A_associated_SNPs_29204 3 Uncertain significance Hyperinsulinism, Dominant RCV000332137.1
1269 chr20 43058189 43058189 1 + C T SKCM 43058189 - 43058169 43058209 41 AGACCCTGAGCCACCTGGCGGTGAGGGCTGTGGGGTCTCAG AGACCCTGAGCCACCTGGCGATGAGGGCTGTGGGGTCTCAG Direct Gain 0 0.959863997107211 0 0.869962573051453 prediction 0.919727994214422 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43058189 chr20:43058189 nonsynonymous SNV 0.990 2 21 hm1A_associated_SNPs_29204 3 Uncertain significance Maturity-onset diabetes of the young RCV000370494.1
1269 chr10 43609994 43609994 1 + C T UCEC 43609994 - 43609974 43610014 41 AGAAGGCAGACAGCAGCACCGAGACGATGAAGGAGAAGAGG AGAAGGCAGACAGCAGCACCAAGACGATGAAGGAGAAGAGG Direct Gain 0 0.959761447621404 0 0.541840672492981 prediction 0.919522895242809 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43609994 chr10:43609994 nonsynonymous SNV 0.897 4 21 hm1A_associated_SNPs_29233 6 Uncertain significance MEN2 phenotype: Unknown RCV000021835.1
1269 chr10 43609994 43609994 1 + C T UCEC 43609994 - 43609974 43610014 41 AGAAGGCAGACAGCAGCACCGAGACGATGAAGGAGAAGAGG AGAAGGCAGACAGCAGCACCAAGACGATGAAGGAGAAGAGG Direct Gain 0 0.959761447621404 0 0.541840672492981 prediction 0.919522895242809 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43609994 chr10:43609994 nonsynonymous SNV 0.897 4 21 hm1A_associated_SNPs_29233 6 other not specified RCV000121978.2
1269 chr10 43609994 43609994 1 + C T UCEC 43609994 - 43609974 43610014 41 AGAAGGCAGACAGCAGCACCGAGACGATGAAGGAGAAGAGG AGAAGGCAGACAGCAGCACCAAGACGATGAAGGAGAAGAGG Direct Gain 0 0.959761447621404 0 0.541840672492981 prediction 0.919522895242809 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43609994 chr10:43609994 nonsynonymous SNV 0.897 4 21 hm1A_associated_SNPs_29233 6 Likely benign Multiple endocrine neoplasia, type 2 RCV000123304.5
1269 chr10 43609994 43609994 1 + C T UCEC 43609994 - 43609974 43610014 41 AGAAGGCAGACAGCAGCACCGAGACGATGAAGGAGAAGAGG AGAAGGCAGACAGCAGCACCAAGACGATGAAGGAGAAGAGG Direct Gain 0 0.959761447621404 0 0.541840672492981 prediction 0.919522895242809 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43609994 chr10:43609994 nonsynonymous SNV 0.897 4 21 hm1A_associated_SNPs_29233 6 Likely benign Elevated basal serum calcitonin RCV000148770.1
1269 chr10 43609994 43609994 1 + C T UCEC 43609994 - 43609974 43610014 41 AGAAGGCAGACAGCAGCACCGAGACGATGAAGGAGAAGAGG AGAAGGCAGACAGCAGCACCAAGACGATGAAGGAGAAGAGG Direct Gain 0 0.959761447621404 0 0.541840672492981 prediction 0.919522895242809 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43609994 chr10:43609994 nonsynonymous SNV 0.897 4 21 hm1A_associated_SNPs_29233 6 Uncertain significance Hereditary cancer-predisposing syndrome RCV000163375.2
1269 chr10 43609994 43609994 1 + C T UCEC 43609994 - 43609974 43610014 41 AGAAGGCAGACAGCAGCACCGAGACGATGAAGGAGAAGAGG AGAAGGCAGACAGCAGCACCAAGACGATGAAGGAGAAGAGG Direct Gain 0 0.959761447621404 0 0.541840672492981 prediction 0.919522895242809 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43609994 chr10:43609994 nonsynonymous SNV 0.897 4 21 hm1A_associated_SNPs_29233 6 Benign not provided RCV000224141.1
1269 chr21 47423482 47423482 1 + C T rs150432347 47423482 - 47423462 47423502 41 GCTCTGGGCGCTGCTGGCCCGTGCCGCTGTACTGCACCACC GCTCTGGGCGCTGCTGGCCCATGCCGCTGTACTGCACCACC Direct Gain 0 0.959544883450921 0 0.996456384658813 prediction 0.919089766901842 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423482 chr21:47423482 nonsynonymous SNV 0.001 1 21 hm1A_associated_SNPs_29309 2 other not specified RCV000252293.2
1269 chr21 47423482 47423482 1 + C T rs150432347 47423482 - 47423462 47423502 41 GCTCTGGGCGCTGCTGGCCCGTGCCGCTGTACTGCACCACC GCTCTGGGCGCTGCTGGCCCATGCCGCTGTACTGCACCACC Direct Gain 0 0.959544883450921 0 0.996456384658813 prediction 0.919089766901842 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423482 chr21:47423482 nonsynonymous SNV 0.001 1 21 hm1A_associated_SNPs_29309 2 Likely benign Collagen VI-related myopathy RCV000271407.1
1269 chr6 7585957 7585957 1 + C T SKCM 7585957 - 7585937 7585977 41 CGGAGCGGGACCCCGGAGCCGAAGACATGTTGTAAGGGCTG CGGAGCGGGACCCCGGAGCCAAAGACATGTTGTAAGGGCTG Direct Gain 0 0.959423364713572 0 0.852046847343445 prediction 0.918846729427144 Functional Gain - DSP ENSG00000096696 CDS Human protein_coding chr6:7585957 chr6:7585957 nonsynonymous SNV 0.717 3 21 hm1A_associated_SNPs_29344 1 Uncertain significance not provided RCV000171924.1
1269 chr2 178257664 178257664 1 + C T rs34442536 178257664 - 178257644 178257684 41 TTGGTACTCAGAGCCTCCCGGGGCCGGCCCAGCAGATGGCC TTGGTACTCAGAGCCTCCCGAGGCCGGCCCAGCAGATGGCC Direct Gain 0 0.959393518249801 0 0.235650777816772 prediction 0.918787036499602 Functional Gain - AGPS ENSG00000018510 CDS Human protein_coding chr2:178257664 chr2:178257664 synonymous SNV . 0 21 hm1A_associated_SNPs_29358 2 Benign not specified RCV000145009.4
1269 chr2 178257664 178257664 1 + C T rs34442536 178257664 - 178257644 178257684 41 TTGGTACTCAGAGCCTCCCGGGGCCGGCCCAGCAGATGGCC TTGGTACTCAGAGCCTCCCGAGGCCGGCCCAGCAGATGGCC Direct Gain 0 0.959393518249801 0 0.235650777816772 prediction 0.918787036499602 Functional Gain - AGPS ENSG00000018510 CDS Human protein_coding chr2:178257664 chr2:178257664 synonymous SNV . 0 21 hm1A_associated_SNPs_29358 2 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000307459.1
1269 chr2 45169423 45169423 1 + C T STAD 45169423 - 45169403 45169443 41 CCGCCGCCGCCGCCTGCTCCGCCAGCACCGCCGCCTCCCGC CCGCCGCCGCCGCCTGCTCCACCAGCACCGCCGCCTCCCGC Direct Gain 0 0.959295623557863 0 0.681351780891418 prediction 0.918591247115726 Functional Gain - SIX3 ENSG00000138083 CDS Human protein_coding chr2:45169423 chr2:45169423 synonymous SNV . 0 21 hm1A_associated_SNPs_29394 1 Uncertain significance not specified RCV000274505.1
1269 chr3 38524742 38524742 1 + C T rs1046048 38524742 - 38524722 38524762 41 AGACAGTCCGAGGTAGTGCCGTTGACCGACCTCCGAATCAG AGACAGTCCGAGGTAGTGCCATTGACCGACCTCCGAATCAG Direct Gain 0 0.958951168688814 0 0.892433643341064 prediction 0.917902337377627 Functional Gain - ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38524742 chr3:38524742 synonymous SNV . 0 21 hm1A_associated_SNPs_29520 2 Benign not specified RCV000253566.1
1269 chr3 38524742 38524742 1 + C T rs1046048 38524742 - 38524722 38524762 41 AGACAGTCCGAGGTAGTGCCGTTGACCGACCTCCGAATCAG AGACAGTCCGAGGTAGTGCCATTGACCGACCTCCGAATCAG Direct Gain 0 0.958951168688814 0 0.892433643341064 prediction 0.917902337377627 Functional Gain - ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38524742 chr3:38524742 synonymous SNV . 0 21 hm1A_associated_SNPs_29520 2 Benign Heterotaxy syndrome RCV000291591.1
1269 chr2 1481155 1481155 1 + G T rs2280132 1481155 - 1481135 1481175 41 GGGCTCGGGCGCACAGGCCGCAGGCGCGCGTGGCGGCACGA GGGCTCGGGCGCACAGGCCGAAGGCGCGCGTGGCGGCACGA Direct Gain 0 0.958801296544429 0 0.896914899349213 prediction 0.917602593088858 Functional Gain - TPO ENSG00000115705 CDS Human protein_coding chr2:1481155 chr2:1481155 nonsynonymous SNV 0.036 0 21 hm1A_associated_SNPs_29568 2 Benign not specified RCV000250722.1
1269 chr2 1481155 1481155 1 + G T rs2280132 1481155 - 1481135 1481175 41 GGGCTCGGGCGCACAGGCCGCAGGCGCGCGTGGCGGCACGA GGGCTCGGGCGCACAGGCCGAAGGCGCGCGTGGCGGCACGA Direct Gain 0 0.958801296544429 0 0.896914899349213 prediction 0.917602593088858 Functional Gain - TPO ENSG00000115705 CDS Human protein_coding chr2:1481155 chr2:1481155 nonsynonymous SNV 0.036 0 21 hm1A_associated_SNPs_29568 2 Likely benign Congenital hypothyroidism RCV000407447.1
1269 chr1 27023212 27023212 1 + C T rs551186176 27023212 - 27023192 27023232 41 AGGGCGGGCCTAGGGCCCGCGTTCCCGTTCGAGTTCTTCAG AGGGCGGGCCTAGGGCCCGCATTCCCGTTCGAGTTCTTCAG Direct Gain 0 0.958784379579123 0 0.840408086776733 prediction 0.917568759158247 Functional Gain - ARID1A ENSG00000117713 CDS Human protein_coding chr1:27023212 chr1:27023212 synonymous SNV . 0 21 hm1A_associated_SNPs_29577 1 Likely benign not specified RCV000500481.1
1269 chr2 233393265 233393265 1 + C T rs112921420 233393265 - 233393245 233393285 41 GGCAGCCAGTACACGAAGCCGTAGTGGTAGACAAGCACGTT GGCAGCCAGTACACGAAGCCATAGTGGTAGACAAGCACGTT Direct Gain 0 0.958704452940121 0 0.940285205841064 prediction 0.917408905880242 Functional Gain - CHRND ENSG00000135902 CDS Human protein_coding chr2:233393265 chr2:233393265 nonsynonymous SNV . 0 21 hm1A_associated_SNPs_29605 1 Likely benign not specified RCV000116732.2
1269 chr5 135385172 135385172 1 + C T rs34334509 135385172 - 135385152 135385192 41 GCCAAAAGCGTGTACTGGCCGTTACCTTCAAGCATCGTGTT GCCAAAAGCGTGTACTGGCCATTACCTTCAAGCATCGTGTT Direct Gain 0 0.958701505960214 0 0.886523008346558 prediction 0.917403011920427 Functional Gain - TGFBI ENSG00000120708 CDS Human protein_coding chr5:135385172 chr5:135385172 synonymous SNV . 0 21 hm1A_associated_SNPs_29607 1 Likely benign Corneal Dystrophy, Dominant RCV000388183.1
1269 chr20 43057087 43057087 1 + C T SKCM 43057087 - 43057067 43057107 41 GGCCACTCACACATCTGTCCGTTGCTGAGGTGAGTGGGCAT GGCCACTCACACATCTGTCCATTGCTGAGGTGAGTGGGCAT Direct Gain 0 0.958621153612826 0 0.670276701450348 prediction 0.917242307225653 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43057087 chr20:43057087 synonymous SNV . 0 21 hm1A_associated_SNPs_29632 2 Uncertain significance Hyperinsulinism, Dominant RCV000270831.1
1269 chr20 43057087 43057087 1 + C T SKCM 43057087 - 43057067 43057107 41 GGCCACTCACACATCTGTCCGTTGCTGAGGTGAGTGGGCAT GGCCACTCACACATCTGTCCATTGCTGAGGTGAGTGGGCAT Direct Gain 0 0.958621153612826 0 0.670276701450348 prediction 0.917242307225653 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43057087 chr20:43057087 synonymous SNV . 0 21 hm1A_associated_SNPs_29632 2 Uncertain significance Maturity-onset diabetes of the young RCV000309520.1
1269 chr12 5021669 5021669 1 + C T COAD 5021669 - 5021649 5021689 41 GTCACAGGGTACATGTCACCGTATCCTACAGTGGTCATGGA GTCACAGGGTACATGTCACCATATCCTACAGTGGTCATGGA Direct Gain 0 0.958264978119185 0 0.99058210849762 prediction 0.916529956238369 Functional Gain - KCNA1 ENSG00000111262 CDS Human protein_coding chr12:5021669 chr12:5021669 synonymous SNV . 0 21 hm1A_associated_SNPs_29749 2 Likely benign Episodic ataxia RCV000313389.1
1269 chr12 5021669 5021669 1 + C T COAD 5021669 - 5021649 5021689 41 GTCACAGGGTACATGTCACCGTATCCTACAGTGGTCATGGA GTCACAGGGTACATGTCACCATATCCTACAGTGGTCATGGA Direct Gain 0 0.958264978119185 0 0.99058210849762 prediction 0.916529956238369 Functional Gain - KCNA1 ENSG00000111262 CDS Human protein_coding chr12:5021669 chr12:5021669 synonymous SNV . 0 21 hm1A_associated_SNPs_29749 2 Likely benign Myokymia RCV000349596.1
1269 chr3 129247626 129247626 1 + C T UCEC 129247626 - 129247606 129247646 41 AGGGGCTGCGTACCACACCCGTCGCATTGGAGAAGGGCACG AGGGGCTGCGTACCACACCCATCGCATTGGAGAAGGGCACG Direct Gain 0 0.958255187142768 0 0.999879240989685 prediction 0.916510374285536 Functional Gain - RHO ENSG00000163914 CDS Human protein_coding chr3:129247626 chr3:129247626 nonsynonymous SNV 0.786 4 21 hm1A_associated_SNPs_29753 1 Pathogenic Retinitis pigmentosa 4 RCV000013892.24
1269 chr11 119077022 119077022 1 + G A rs569014495 119077022 + 119077002 119077042 41 GCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCGGGAGAGG GCGGCGGCGGCGGCGGCGGCAGCGGCGGCGGCCGGGAGAGG Direct Gain 0 0.958115071622496 0 0.996114373207092 prediction 0.916230143244992 Functional Gain - CBL ENSG00000110395 UTR5 Human protein_coding chr11:119077022 chr11:119077022 . . 0 21 hm1A_associated_SNPs_29798 1 Likely benign Noonan-Like Syndrome Disorder RCV000334215.1
1269 chr3 141205942 141205942 1 + C T rs201352230 141205942 - 141205922 141205962 41 AAGAAGCCGCCGCAGCAGCAGGCGCCGCCGCCGCCATGGTG AAGAAGCCGCCGCAGCAGCAAGCGCCGCCGCCGCCATGGTG Direct Gain 0 0.958038690224686 0 0.667354345321655 prediction 0.916077380449373 Functional Gain - RASA2 ENSG00000155903 CDS Human protein_coding chr3:141205942 chr3:141205942 nonsynonymous SNV 0.980 0 21 hm1A_associated_SNPs_29819 1 Uncertain significance not specified RCV000202839.1
1269 chr3 47043238 47043238 1 + C T rs12489851 47043238 - 47043218 47043258 41 TCACGGAGATCAGCTGTGCCGTTGGCCAGGTGGGGCCAGGC TCACGGAGATCAGCTGTGCCATTGGCCAGGTGGGGCCAGGC Direct Gain 0 0.958038639224963 0 0.430271953344345 prediction 0.916077278449926 Functional Gain - NBEAL2 ENSG00000160796 CDS Human protein_coding chr3:47043238 chr3:47043238 synonymous SNV . 0 21 hm1A_associated_SNPs_29820 2 Benign not specified RCV000247554.1
1269 chr3 47043238 47043238 1 + C T rs12489851 47043238 - 47043218 47043258 41 TCACGGAGATCAGCTGTGCCGTTGGCCAGGTGGGGCCAGGC TCACGGAGATCAGCTGTGCCATTGGCCAGGTGGGGCCAGGC Direct Gain 0 0.958038639224963 0 0.430271953344345 prediction 0.916077278449926 Functional Gain - NBEAL2 ENSG00000160796 CDS Human protein_coding chr3:47043238 chr3:47043238 synonymous SNV . 0 21 hm1A_associated_SNPs_29820 2 Benign Gray platelet syndrome RCV000386878.1
1269 chr9 137710729 137710729 1 + C T COAD 137710729 - 137710709 137710749 41 ACCATGGGGCCGGGGGGACCGTCCGGGCCTGGGGATCCTGG ACCATGGGGCCGGGGGGACCATCCGGGCCTGGGGATCCTGG Direct Gain 0 0.957971179610026 0 0.989773273468018 prediction 0.915942359220052 Functional Gain - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137710729 chr9:137710729 synonymous SNV . 0 21 hm1A_associated_SNPs_29839 1 Benign not specified RCV000195785.1
1269 chr11 121008503 121008503 1 + C T LUAD 121008503 - 121008483 121008523 41 TCAAAGGTGAGGTAGTGGCCGTAGCCTGAGACGATGCAGGA TCAAAGGTGAGGTAGTGGCCATAGCCTGAGACGATGCAGGA Direct Gain 0 0.957770032314449 0 0.759784460067749 prediction 0.915540064628898 Functional Gain - TECTA ENSG00000109927 CDS Human protein_coding chr11:121008503 chr11:121008503 synonymous SNV . 0 21 hm1A_associated_SNPs_29909 1 Likely benign not specified RCV000219925.1
1269 chr19 11170785 11170785 1 + C T COAD 11170785 - 11170765 11170805 41 CGGCTCGGCCGCCGCCGGCCGCCCTTCAGCCGGTCCTGTGC CGGCTCGGCCGCCGCCGGCCACCCTTCAGCCGGTCCTGTGC Direct Gain 0 0.957682152112609 0 0.474306136369705 prediction 0.915364304225218 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11170785 chr19:11170785 synonymous SNV . 0 21 hm1A_associated_SNPs_29942 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000466725.1
1269 chr9 101867486 101867486 1 + C T rs200224304 101867486 - 101867466 101867506 41 CAGCGACCGCCGCCTCCATGGTCCCGCCGCCACCGCCTGTG CAGCGACCGCCGCCTCCATGATCCCGCCGCCACCGCCTGTG Direct Gain 0 0.95758978092958 0 0.887982666492462 prediction 0.915179561859161 Functional Gain - TGFBR1 ENSG00000106799 UTR5 Human protein_coding chr9:101867486 chr9:101867486 . . 0 21 hm1A_associated_SNPs_29973 1 Likely benign not specified RCV000173352.5
1269 chr19 11071810 11071810 1 + C T rs559144002 11071810 - 11071790 11071830 41 GACTTCCCGGCGCCTCCCCCGCCCCTCCGCGCGGGGCCGGG GACTTCCCGGCGCCTCCCCCACCCCTCCGCGCGGGGCCGGG Direct Gain 0 0.957377438546503 0 0.148067593574524 prediction 0.914754877093007 Functional Gain - SMARCA4 ENSG00000127616 UTR5 Human protein_coding chr19:11071810 chr19:11071810 . . 0 21 hm1A_associated_SNPs_30041 1 Likely benign Coffin-Siris syndrome RCV000394535.1
1269 chr10 73464715 73464715 1 + C T rs375102725 73464715 - 73464695 73464735 41 GGCATGCCCACCGGCATGCGGTAGGACACCAGGCCGTTCAG GGCATGCCCACCGGCATGCGATAGGACACCAGGCCGTTCAG Direct Gain 0 0.957280126376614 0 0.971430480480194 prediction 0.914560252753229 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73464715 chr10:73464715 synonymous SNV . 0 21 hm1A_associated_SNPs_30081 1 Likely benign not specified RCV000039133.2
1269 chr4 57333821 57333821 1 + G A rs139502866 57333821 + 57333801 57333841 41 GATGGCGAGCGGCGGCAGCGGGGGGGTGTCAGTACCTGCGC GATGGCGAGCGGCGGCAGCGAGGGGGTGTCAGTACCTGCGC Direct Gain 0 0.957168505355207 0 0.988815128803253 prediction 0.914337010710413 Functional Gain - SRP72 ENSG00000174780 CDS Human protein_coding chr4:57333821 chr4:57333821 nonsynonymous SNV 0.867 2 21 hm1A_associated_SNPs_30130 1 Uncertain significance Bone marrow failure syndrome 1 RCV000312195.1
1269 chr1 43896737 43896737 1 + C T UCEC 43896737 - 43896717 43896757 41 GGTGCTGAGGGTCCGAGGCCGTGGGGAGCTCCACTTCCAGG GGTGCTGAGGGTCCGAGGCCATGGGGAGCTCCACTTCCAGG Direct Gain 0 0.95714264865789 0 0.92208194732666 prediction 0.91428529731578 Functional Gain - SZT2 ENSG00000198198 CDS Human protein_coding chr1:43896737 chr1:43896737 nonsynonymous SNV 0.610 0 21 hm1A_associated_SNPs_30144 1 Uncertain significance not specified RCV000465656.1
1269 chr16 4387353 4387353 1 + C T rs138285254 4387353 - 4387333 4387373 41 GCCGGGAGCAGCTGCTCTCCGTCCTTTCAAGGGGCGTCTTG GCCGGGAGCAGCTGCTCTCCATCCTTTCAAGGGGCGTCTTG Direct Gain 0 0.957019803788197 0 0.981146574020386 prediction 0.914039607576394 Functional Gain - GLIS2 ENSG00000126603 CDS Human protein_coding chr16:4387353 chr16:4387353 nonsynonymous SNV 0.998 3 21 hm1A_associated_SNPs_30189 1 Uncertain significance Nephronophthisis RCV000365892.1
1269 chr20 61471925 61471925 1 + C T rs74830351 61471925 - 61471905 61471945 41 CCGGGAGCACCGTCCTGGCCGTCCTTGCTGGTGCCGGGCAC CCGGGAGCACCGTCCTGGCCATCCTTGCTGGTGCCGGGCAC Direct Gain 0 0.957016560291213 0 0.907431602478027 prediction 0.914033120582427 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61471925 chr20:61471925 synonymous SNV . 0 21 hm1A_associated_SNPs_30190 2 Benign not specified RCV000249480.1
1269 chr20 61471925 61471925 1 + C T rs74830351 61471925 - 61471905 61471945 41 CCGGGAGCACCGTCCTGGCCGTCCTTGCTGGTGCCGGGCAC CCGGGAGCACCGTCCTGGCCATCCTTGCTGGTGCCGGGCAC Direct Gain 0 0.957016560291213 0 0.907431602478027 prediction 0.914033120582427 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61471925 chr20:61471925 synonymous SNV . 0 21 hm1A_associated_SNPs_30190 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000260014.1
1269 chr1 11994760 11994760 1 + G A rs144465849 11994760 + 11994740 11994780 41 GGGCCCAGTGCGTGGCAGCGGGACCTGCGGCCCCGTCGCGA GGGCCCAGTGCGTGGCAGCGAGACCTGCGGCCCCGTCGCGA Direct Gain 0 0.95694448903795 0 0.996714115142822 prediction 0.913888978075901 Functional Gain - PLOD1 ENSG00000083444 UTR5 Human protein_coding chr1:11994760 chr1:11994760 . . 0 21 hm1A_associated_SNPs_30215 1 Uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000387162.1
1269 chr2 233199418 233199418 1 + C T UCEC 233199418 - 233199398 233199438 41 TAGATGCGCTTCTGCACGCCGTAGCGCAGCACCAGCACGTC TAGATGCGCTTCTGCACGCCATAGCGCAGCACCAGCACGTC Direct Gain 0 0.956930679922044 0 0.998773097991943 prediction 0.913861359844089 Functional Gain - DIS3L2 ENSG00000144535 CDS Human protein_coding chr2:233199418 chr2:233199418 synonymous SNV . 0 21 hm1A_associated_SNPs_30217 1 Likely benign Renal hamartomas nephroblastomatosis and fetal gigantism RCV000472111.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic EEG abnormality RCV000416458.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic Failure to thrive RCV000416458.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic Generalized hypotonia RCV000416458.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic Global developmental delay RCV000416458.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic Hirsutism RCV000416458.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic Intellectual disability RCV000416458.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic Microcephaly RCV000416458.1
1269 chr3 47889727 47889727 1 + C T STAD 47889727 - 47889707 47889747 41 GGACTGGCAGCGGCCCGCCCGGCCCCGGCGCTGGATCACAT GGACTGGCAGCGGCCCGCCCAGCCCCGGCGCTGGATCACAT Direct Gain 0 0.956799770923041 0 0.102059364318848 prediction 0.913599541846082 Functional Gain - DHX30 ENSG00000132153 CDS Human protein_coding chr3:47889727 chr3:47889727 nonsynonymous SNV 0.981 5 21 hm1A_associated_SNPs_30266 8 Pathogenic Short stature RCV000416458.1
1269 chr1 168260509 168260509 1 + C T UCEC 168260509 - 168260489 168260529 41 CCAGCGGGCACCCATTCCCCGTTGACGTACTTCCAGCGGTG CCAGCGGGCACCCATTCCCCATTGACGTACTTCCAGCGGTG Direct Gain 0 0.956762788467138 0 0.917758464813232 prediction 0.913525576934275 Functional Gain - TBX19 ENSG00000143178 CDS Human protein_coding chr1:168260509 chr1:168260509 synonymous SNV . 0 21 hm1A_associated_SNPs_30279 1 Uncertain significance ACTH deficiency RCV000346845.1
1269 chr3 10183867 10183867 1 + C T GBM 10183867 - 10183847 10183887 41 AGCGCCGGGCCCGTACCTCGGTAGCTGTGGATGCGGCGGCC AGCGCCGGGCCCGTACCTCGATAGCTGTGGATGCGGCGGCC Direct Gain 0 0.956725982719213 0 0.945662498474121 prediction 0.913451965438426 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183867 chr3:10183867 synonymous SNV . 0 21 hm1A_associated_SNPs_30289 1 Likely benign not specified RCV000442391.1
1269 chr19 50906393 50906393 1 + C T COAD 50906393 - 50906373 50906413 41 CCGCAGGGTGAGCGCCAGGCGTAGGAAGGGCTCCGGCTCCC CCGCAGGGTGAGCGCCAGGCATAGGAAGGGCTCCGGCTCCC Direct Gain 0 0.956620678192316 0 0.0617335736751556 prediction 0.913241356384632 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906393 chr19:50906393 nonsynonymous SNV 0.595 2 21 hm1A_associated_SNPs_30330 1 Uncertain significance Colorectal cancer 10 RCV000468853.1
1269 chr20 30946297 30946297 1 + C T rs530763476 30946297 - 30946277 30946317 41 GATCGCTAAGGAATGCGGCGGCTCCGCATAACCACGGGGTC GATCGCTAAGGAATGCGGCGACTCCGCATAACCACGGGGTC Direct Gain 0 0.956618494357839 0 0.804631114006042 prediction 0.913236988715678 Functional Gain - ASXL1 ENSG00000171456 UTR5 Human protein_coding chr20:30946297 chr20:30946297 . . 0 21 hm1A_associated_SNPs_30332 1 Likely benign C-like syndrome RCV000397864.1
1269 chr12 108956449 108956449 1 + G A rs112552261 108956449 + 108956429 108956469 41 CGGGCGGCATCGGCTCTGCTGCTGCGGAGCCCCCGCCTGCC CGGGCGGCATCGGCTCTGCTACTGCGGAGCCCCCGCCTGCC Direct Gain 0 0.956586693692821 0 0.784200549125671 prediction 0.913173387385642 Functional Gain - ISCU ENSG00000136003 CDS Human protein_coding chr12:108956449 chr12:108956449 synonymous SNV . 0 21 hm1A_associated_SNPs_30347 1 Benign not specified RCV000198723.1
1269 chr21 47532287 47532287 1 + C T rs142328765 47532287 - 47532267 47532307 41 GCCTGCAGCTTGATGCCCCCGCAGGGGCTGCCGGTGACGTG GCCTGCAGCTTGATGCCCCCACAGGGGCTGCCGGTGACGTG Direct Gain 0 0.956522784379378 0 0.494630396366119 prediction 0.913045568758757 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532287 chr21:47532287 synonymous SNV . 0 21 hm1A_associated_SNPs_30372 3 other not specified RCV000177136.3
1269 chr21 47532287 47532287 1 + C T rs142328765 47532287 - 47532267 47532307 41 GCCTGCAGCTTGATGCCCCCGCAGGGGCTGCCGGTGACGTG GCCTGCAGCTTGATGCCCCCACAGGGGCTGCCGGTGACGTG Direct Gain 0 0.956522784379378 0 0.494630396366119 prediction 0.913045568758757 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532287 chr21:47532287 synonymous SNV . 0 21 hm1A_associated_SNPs_30372 3 Likely benign Myosclerosis RCV000295895.1
1269 chr21 47532287 47532287 1 + C T rs142328765 47532287 - 47532267 47532307 41 GCCTGCAGCTTGATGCCCCCGCAGGGGCTGCCGGTGACGTG GCCTGCAGCTTGATGCCCCCACAGGGGCTGCCGGTGACGTG Direct Gain 0 0.956522784379378 0 0.494630396366119 prediction 0.913045568758757 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532287 chr21:47532287 synonymous SNV . 0 21 hm1A_associated_SNPs_30372 3 Likely benign Collagen VI-related myopathy RCV000387780.1
1269 chr4 3495064 3495064 1 + C T rs16844470 3495064 - 3495044 3495084 41 CTCCATCACCAGGCCCCGCCGTCTCGTGCCCAGCCAGCCAG CTCCATCACCAGGCCCCGCCATCTCGTGCCCAGCCAGCCAG Direct Gain 0 0.956437770664931 0 0.999815344810486 prediction 0.912875541329863 Functional Gain - DOK7 ENSG00000175920 CDS Human protein_coding chr4:3495064 chr4:3495064 nonsynonymous SNV 0.053 3 21 hm1A_associated_SNPs_30404 1 other not specified RCV000116890.4
1269 chr10 104263732 104263732 1 + C T rs113962600 104263732 - 104263712 104263752 41 CAGGCTGTCGCCGCCGCCGAGTCTGCCAGAGGGTGCCTCGG CAGGCTGTCGCCGCCGCCGAATCTGCCAGAGGGTGCCTCGG Direct Gain 0 0.956403198139708 0 0.280667126178741 prediction 0.912806396279416 Functional Gain - SUFU ENSG00000107882 upstream Human protein_coding chr10:104263732 chr10:104263732 . . 0 21 hm1A_associated_SNPs_30413 1 Likely benign Medulloblastoma RCV000295511.1
1269 chr19 50905725 50905725 1 + C T rs76131127 50905725 - 50905705 50905745 41 AGTTGCAGCCGACGATGTCCGTGTCCACCATGAACCTGGAG AGTTGCAGCCGACGATGTCCATGTCCACCATGAACCTGGAG Direct Gain 0 0.956286933671662 0 0.99892520904541 prediction 0.912573867343323 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905725 chr19:50905725 nonsynonymous SNV 0.270 0 21 hm1A_associated_SNPs_30458 2 Benign Colorectal cancer 10 RCV000206076.3
1269 chr19 50905725 50905725 1 + C T rs76131127 50905725 - 50905705 50905745 41 AGTTGCAGCCGACGATGTCCGTGTCCACCATGAACCTGGAG AGTTGCAGCCGACGATGTCCATGTCCACCATGAACCTGGAG Direct Gain 0 0.956286933671662 0 0.99892520904541 prediction 0.912573867343323 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905725 chr19:50905725 nonsynonymous SNV 0.270 0 21 hm1A_associated_SNPs_30458 2 Likely benign not specified RCV000431487.1
1269 chr19 11145661 11145661 1 + C T STAD 11145661 - 11145641 11145681 41 ATGATCCACGAGGGGAGCTCGTCCTCCTCCATGAGGCGCGG ATGATCCACGAGGGGAGCTCATCCTCCTCCATGAGGCGCGG Direct Gain 0 0.956243580287423 0 0.10124009847641 prediction 0.912487160574846 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145661 chr19:11145661 synonymous SNV . 0 21 hm1A_associated_SNPs_30469 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000467227.1
1269 chr15 67358465 67358465 1 + C T rs144374592 67358465 - 67358445 67358485 41 GAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGGGCTGG GAGGGCGCGCGGGCGGCGAGAAGCGCCCCCGGCGGGGCTGG Direct Gain 0 0.956127427969717 0 0.765111446380615 prediction 0.912254855939433 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358465 chr15:67358465 . . 0 21 hm1A_associated_SNPs_30506 3 Benign not specified RCV000128166.3
1269 chr15 67358465 67358465 1 + C T rs144374592 67358465 - 67358445 67358485 41 GAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGGGCTGG GAGGGCGCGCGGGCGGCGAGAAGCGCCCCCGGCGGGGCTGG Direct Gain 0 0.956127427969717 0 0.765111446380615 prediction 0.912254855939433 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358465 chr15:67358465 . . 0 21 hm1A_associated_SNPs_30506 3 Benign Loeys-Dietz syndrome RCV000318849.1
1269 chr15 67358465 67358465 1 + C T rs144374592 67358465 - 67358445 67358485 41 GAGGGCGCGCGGGCGGCGAGGAGCGCCCCCGGCGGGGCTGG GAGGGCGCGCGGGCGGCGAGAAGCGCCCCCGGCGGGGCTGG Direct Gain 0 0.956127427969717 0 0.765111446380615 prediction 0.912254855939433 Functional Gain - SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358465 chr15:67358465 . . 0 21 hm1A_associated_SNPs_30506 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000359576.1
1269 chr6 132129163 132129163 1 + G A rs535293574 132129163 + 132129143 132129183 41 CCGGGCAGCGGGGCCGGAGCGGCCGGGGCCACGATGGAGCG CCGGGCAGCGGGGCCGGAGCAGCCGGGGCCACGATGGAGCG Direct Gain 0 0.956064647591925 0 0.995543122291565 prediction 0.912129295183851 Functional Gain - ENPP1 ENSG00000197594 UTR5 Human protein_coding chr6:132129163 chr6:132129163 . . 0 21 hm1A_associated_SNPs_30521 3 Uncertain significance not specified RCV000278464.1
1269 chr6 132129163 132129163 1 + G A rs535293574 132129163 + 132129143 132129183 41 CCGGGCAGCGGGGCCGGAGCGGCCGGGGCCACGATGGAGCG CCGGGCAGCGGGGCCGGAGCAGCCGGGGCCACGATGGAGCG Direct Gain 0 0.956064647591925 0 0.995543122291565 prediction 0.912129295183851 Functional Gain - ENPP1 ENSG00000197594 UTR5 Human protein_coding chr6:132129163 chr6:132129163 . . 0 21 hm1A_associated_SNPs_30521 3 Likely benign Arterial calcification of infancy RCV000285163.1
1269 chr6 132129163 132129163 1 + G A rs535293574 132129163 + 132129143 132129183 41 CCGGGCAGCGGGGCCGGAGCGGCCGGGGCCACGATGGAGCG CCGGGCAGCGGGGCCGGAGCAGCCGGGGCCACGATGGAGCG Direct Gain 0 0.956064647591925 0 0.995543122291565 prediction 0.912129295183851 Functional Gain - ENPP1 ENSG00000197594 UTR5 Human protein_coding chr6:132129163 chr6:132129163 . . 0 21 hm1A_associated_SNPs_30521 3 Likely benign Hypophosphatemic Rickets, Recessive RCV000342615.1
1269 chr7 75615006 75615006 1 + C T rs1057868 75615006 - 75614986 75615026 41 CACGGCCGCCGTTCTCCCCGGCAGGCTCCTTGGCCCGCAGC CACGGCCGCCGTTCTCCCCGACAGGCTCCTTGGCCCGCAGC Direct Gain 0 0.955930171513705 0 0.156465440988541 prediction 0.911860343027411 Functional Gain - POR ENSG00000127948 CDS Human protein_coding chr7:75615006 chr7:75615006 nonsynonymous SNV 0.213 1 21 hm1A_associated_SNPs_30584 2 Benign not specified RCV000251974.1
1269 chr7 75615006 75615006 1 + C T rs1057868 75615006 - 75614986 75615026 41 CACGGCCGCCGTTCTCCCCGGCAGGCTCCTTGGCCCGCAGC CACGGCCGCCGTTCTCCCCGACAGGCTCCTTGGCCCGCAGC Direct Gain 0 0.955930171513705 0 0.156465440988541 prediction 0.911860343027411 Functional Gain - POR ENSG00000127948 CDS Human protein_coding chr7:75615006 chr7:75615006 nonsynonymous SNV 0.213 1 21 hm1A_associated_SNPs_30584 2 Likely benign Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis RCV000405449.1
1269 chr19 3193402 3193402 1 + C T CESC 3193402 - 3193382 3193422 41 AGCAGCAGAGGCGGAGCCCTGGGAGGCGGAGGCAGCCTGGG AGCAGCAGAGGCGGAGCCCTAGGAGGCGGAGGCAGCCTGGG Direct Gain 0 0.955913695885301 0 0.879215836524963 prediction 0.911827391770601 Functional Gain - NCLN ENSG00000125912 CDS Human protein_coding chr19:3193402 chr19:3193402 stopgain 0.948 0 21 hm1A_associated_SNPs_30592 1 Likely pathogenic Hirschsprung disease 1 RCV000416337.1
1269 chr16 31202354 31202354 1 + C T rs150529460 31202354 - 31202334 31202374 41 CGGAAGCCTCCACGGTCCCCGCCGCGGCCCCGGTAGCCGCC CGGAAGCCTCCACGGTCCCCACCGCGGCCCCGGTAGCCGCC Direct Gain 0 0.955856981282075 0 0.831522166728973 prediction 0.91171396256415 Functional Gain - FUS ENSG00000089280 CDS Human protein_coding chr16:31202354 chr16:31202354 synonymous SNV . 0 21 hm1A_associated_SNPs_30613 1 Likely benign not specified RCV000247153.1
1269 chr12 5154893 5154893 1 + C T rs121908591 5154893 - 5154873 5154913 41 CTGCCGGCTCCTCGTGATCCGTTTCCCGGTGGTAGAAGTAG CTGCCGGCTCCTCGTGATCCATTTCCCGGTGGTAGAAGTAG Direct Gain 0 0.955606239818832 0 0.993425250053406 prediction 0.911212479637663 Functional Gain - KCNA5 ENSG00000130037 CDS Human protein_coding chr12:5154893 chr12:5154893 nonsynonymous SNV 0.999 2 21 hm1A_associated_SNPs_30713 2 Pathogenic Atrial fibrillation, familial, 7 RCV000014412.18
1269 chr12 5154893 5154893 1 + C T rs121908591 5154893 - 5154873 5154913 41 CTGCCGGCTCCTCGTGATCCGTTTCCCGGTGGTAGAAGTAG CTGCCGGCTCCTCGTGATCCATTTCCCGGTGGTAGAAGTAG Direct Gain 0 0.955606239818832 0 0.993425250053406 prediction 0.911212479637663 Functional Gain - KCNA5 ENSG00000130037 CDS Human protein_coding chr12:5154893 chr12:5154893 nonsynonymous SNV 0.999 2 21 hm1A_associated_SNPs_30713 2 Uncertain significance not specified RCV000295612.1
1269 chr10 43609955 43609955 1 + C T OV 43609955 - 43609935 43609975 41 GGACAGCGGCTGCGATCACCGTGCGGCACAGCTCGTCGCAC GGACAGCGGCTGCGATCACCATGCGGCACAGCTCGTCGCAC Direct Gain 0 0.955575836232 0 0.999336004257202 prediction 0.911151672464001 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43609955 chr10:43609955 nonsynonymous SNV 0.628 1 21 hm1A_associated_SNPs_30728 1 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000463920.1
1269 chr9 124089692 124089692 1 + C T rs76463933 124089692 - 124089672 124089712 41 TGAGCAGCTCCTGGGCCCCCGTCTTCTCTGCCTCGCTGGCT TGAGCAGCTCCTGGGCCCCCATCTTCTCTGCCTCGCTGGCT Direct Gain 0 0.955543025929408 0 0.999295234680176 prediction 0.911086051858817 Functional Gain - GSN ENSG00000148180 CDS Human protein_coding chr9:124089692 chr9:124089692 nonsynonymous SNV 0.547 2 21 hm1A_associated_SNPs_30739 1 Benign Amyloidosis RCV000322979.1
1269 chr2 220370192 220370192 1 + C T rs146215853 220370192 - 220370172 220370212 41 CTCAGGTAGAGGCGGGAGGCGTAGAGGGCTGAACTGGGGAC CTCAGGTAGAGGCGGGAGGCATAGAGGGCTGAACTGGGGAC Direct Gain 0 0.955464459902423 0 0.963162064552307 prediction 0.910928919804847 Functional Gain - GMPPA ENSG00000144591 CDS Human protein_coding chr2:220370192 chr2:220370192 synonymous SNV . 0 21 hm1A_associated_SNPs_30777 1 Likely benign not specified RCV000445213.1
1269 chr20 4680025 4680025 1 + C T UCEC 4680025 - 4680005 4680045 41 GGCTGCCCCCAGCCACCACCGCCCTGAGGTGGGTAGCGGTT GGCTGCCCCCAGCCACCACCACCCTGAGGTGGGTAGCGGTT Direct Gain 0 0.95525441242072 0 0.0763098895549774 prediction 0.910508824841439 Functional Gain - PRNP ENSG00000171867 CDS Human protein_coding chr20:4680025 chr20:4680025 synonymous SNV . 0 21 hm1A_associated_SNPs_30862 1 Uncertain significance Genetic prion diseases RCV000287805.1
1269 chr7 4824597 4824597 1 + C T PRAD 4824597 - 4824577 4824617 41 CGGGGCGGCAGCAGGCGGCCGGCAGAGGAGGTGGCGGAGAT CGGGGCGGCAGCAGGCGGCCAGCAGAGGAGGTGGCGGAGAT Direct Gain 0 0.955146970466528 0 0.123682051897049 prediction 0.910293940933057 Functional Gain - AP5Z1 ENSG00000242802 CDS Human protein_coding chr7:4824597 chr7:4824597 synonymous SNV . 0 21 hm1A_associated_SNPs_30910 1 Likely benign Spastic paraplegia 48, autosomal recessive RCV000226846.2
1269 chr7 33944686 33944686 1 + G A rs112890951 33944686 + 33944666 33944706 41 CGGGTTCCGGGAGGCGCCCGGTGAGCCCACGTCTGTTGCGG CGGGTTCCGGGAGGCGCCCGATGAGCCCACGTCTGTTGCGG Direct Gain 0 0.954956240042894 0 0.999992549419403 prediction 0.909912480085788 Functional Gain - BMPER ENSG00000164619 UTR5 Human protein_coding chr7:33944686 chr7:33944686 . . 0 21 hm1A_associated_SNPs_30986 1 Likely benign Diaphanospondylodysostosis RCV000296299.1
1269 chr12 2788878 2788878 1 + C T rs192749597 2788878 - 2788858 2788898 41 GGCCCTCCACAGTGCTGACCGTGCTGGGGTAGCCGGCGGGG GGCCCTCCACAGTGCTGACCATGCTGGGGTAGCCGGCGGGG Direct Gain 0 0.954856897470902 0 0.800759673118591 prediction 0.909713794941803 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2788878 chr12:2788878 nonsynonymous SNV 0.069 2 21 hm1A_associated_SNPs_31021 4 Benign not specified RCV000124095.3
1269 chr12 2788878 2788878 1 + C T rs192749597 2788878 - 2788858 2788898 41 GGCCCTCCACAGTGCTGACCGTGCTGGGGTAGCCGGCGGGG GGCCCTCCACAGTGCTGACCATGCTGGGGTAGCCGGCGGGG Direct Gain 0 0.954856897470902 0 0.800759673118591 prediction 0.909713794941803 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2788878 chr12:2788878 nonsynonymous SNV 0.069 2 21 hm1A_associated_SNPs_31021 4 Benign Long QT syndrome RCV000231476.2
1269 chr12 2788878 2788878 1 + C T rs192749597 2788878 - 2788858 2788898 41 GGCCCTCCACAGTGCTGACCGTGCTGGGGTAGCCGGCGGGG GGCCCTCCACAGTGCTGACCATGCTGGGGTAGCCGGCGGGG Direct Gain 0 0.954856897470902 0 0.800759673118591 prediction 0.909713794941803 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2788878 chr12:2788878 nonsynonymous SNV 0.069 2 21 hm1A_associated_SNPs_31021 4 Likely benign Timothy syndrome RCV000300845.1
1269 chr12 2788878 2788878 1 + C T rs192749597 2788878 - 2788858 2788898 41 GGCCCTCCACAGTGCTGACCGTGCTGGGGTAGCCGGCGGGG GGCCCTCCACAGTGCTGACCATGCTGGGGTAGCCGGCGGGG Direct Gain 0 0.954856897470902 0 0.800759673118591 prediction 0.909713794941803 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2788878 chr12:2788878 nonsynonymous SNV 0.069 2 21 hm1A_associated_SNPs_31021 4 Likely benign Brugada syndrome RCV000355697.1
1269 chr12 124417973 124417973 1 + C T rs56219209 124417973 - 124417953 124417993 41 GAGCGGTCCAGTGGCCAGCCGTTCTTCCGGCAGGTGGCCTG GAGCGGTCCAGTGGCCAGCCATTCTTCCGGCAGGTGGCCTG Direct Gain 0 0.954792065602883 0 0.992252051830292 prediction 0.909584131205765 Functional Gain - DNAH10 ENSG00000197653 CDS Human protein_coding chr12:124417973 chr12:124417973 synonymous SNV . 0 21 hm1A_associated_SNPs_31047 1 Benign not specified RCV000455160.1
1269 chr9 136302008 136302008 1 + G T rs36220239 136302008 - 136301988 136302028 41 CCAGGGGAGGAGCGCAGCGGCTGGCCGTCGGTCCTGGCGCA CCAGGGGAGGAGCGCAGCGGATGGCCGTCGGTCCTGGCGCA Direct Gain 0 0.954660739766674 0 0.982540130615234 prediction 0.909321479533349 Functional Gain - ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136302008 chr9:136302008 nonsynonymous SNV 0.005 0 21 hm1A_associated_SNPs_31102 2 Benign not specified RCV000246702.1
1269 chr9 136302008 136302008 1 + G T rs36220239 136302008 - 136301988 136302028 41 CCAGGGGAGGAGCGCAGCGGCTGGCCGTCGGTCCTGGCGCA CCAGGGGAGGAGCGCAGCGGATGGCCGTCGGTCCTGGCGCA Direct Gain 0 0.954660739766674 0 0.982540130615234 prediction 0.909321479533349 Functional Gain - ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136302008 chr9:136302008 nonsynonymous SNV 0.005 0 21 hm1A_associated_SNPs_31102 2 Likely benign Upshaw-Schulman syndrome RCV000375633.1
1269 chr1 160093164 160093164 1 + C T UCEC 160093164 - 160093144 160093184 41 TCCATGGCAGCCTGGATGCCGTAGGCCAGGAAGCAGAGGAT TCCATGGCAGCCTGGATGCCATAGGCCAGGAAGCAGAGGAT Direct Gain 0 0.954575000800868 0 0.99789297580719 prediction 0.909150001601737 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160093164 chr1:160093164 synonymous SNV . 0 21 hm1A_associated_SNPs_31132 3 Uncertain significance Alternating hemiplegia of childhood RCV000321006.1
1269 chr1 160093164 160093164 1 + C T UCEC 160093164 - 160093144 160093184 41 TCCATGGCAGCCTGGATGCCGTAGGCCAGGAAGCAGAGGAT TCCATGGCAGCCTGGATGCCATAGGCCAGGAAGCAGAGGAT Direct Gain 0 0.954575000800868 0 0.99789297580719 prediction 0.909150001601737 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160093164 chr1:160093164 synonymous SNV . 0 21 hm1A_associated_SNPs_31132 3 Uncertain significance Familial hemiplegic migraine RCV000380349.1
1269 chr1 160093164 160093164 1 + C T UCEC 160093164 - 160093144 160093184 41 TCCATGGCAGCCTGGATGCCGTAGGCCAGGAAGCAGAGGAT TCCATGGCAGCCTGGATGCCATAGGCCAGGAAGCAGAGGAT Direct Gain 0 0.954575000800868 0 0.99789297580719 prediction 0.909150001601737 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160093164 chr1:160093164 synonymous SNV . 0 21 hm1A_associated_SNPs_31132 3 Benign not specified RCV000429036.1
1269 chr17 79674249 79674249 1 + C T rs144790349 79674249 - 79674229 79674269 41 TACTCCAGAACCACGGTGCCGCCCACCGCCTCCAGGGCCGC TACTCCAGAACCACGGTGCCACCCACCGCCTCCAGGGCCGC Direct Gain 0 0.954548782456059 0 0.0924206674098969 prediction 0.909097564912117 Functional Gain - MRPL12 ENSG00000262814 CDS Human protein_coding chr17:79674249 chr17:79674249 synonymous SNV . 0 21 hm1A_associated_SNPs_31139 1 Likely benign not specified RCV000422477.1
1269 chr7 66094008 66094008 1 + C T rs35526611 66094008 - 66093988 66094028 41 GCGGCTTCGGGCGGGCGGAGGCGGCGGCCCCGGGCACTCCC GCGGCTTCGGGCGGGCGGAGACGGCGGCCCCGGGCACTCCC Direct Gain 0 0.95437195451538 0 0.958626389503479 prediction 0.90874390903076 Functional Gain - KCTD7 ENSG00000243335 UTR5 Human protein_coding chr7:66094008 chr7:66094008 . . 0 21 hm1A_associated_SNPs_31212 1 Benign Progressive myoclonic epilepsy RCV000370915.1
1269 chr7 299863 299863 1 + C T rs62644536 299863 - 299843 299883 41 GTTCCTCTCCACGCAGTCCCGGACGGCCTTTAGCACGACGC GTTCCTCTCCACGCAGTCCCAGACGGCCTTTAGCACGACGC Direct Gain 0 0.954182041997748 0 0.639588117599487 prediction 0.908364083995496 Functional Gain - FAM20C ENSG00000177706 CDS Human protein_coding chr7:299863 chr7:299863 nonsynonymous SNV 0.034 1 21 hm1A_associated_SNPs_31299 1 Benign not specified RCV000260505.1
1269 chr22 24911249 24911249 1 + C T rs74883165 24911249 - 24911229 24911269 41 TTGAGGGGGTGGTGCCGCCCGTAGCAAATGTTCACCGCGAT TTGAGGGGGTGGTGCCGCCCATAGCAAATGTTCACCGCGAT Direct Gain 0 0.954158853266675 0 0.97241747379303 prediction 0.908317706533351 Functional Gain - UPB1 ENSG00000100024 CDS Human protein_coding chr22:24911249 chr22:24911249 synonymous SNV . 0 21 hm1A_associated_SNPs_31307 1 not provided not provided RCV000086543.1
1269 chr9 138651621 138651621 1 + C T UVM 138651621 - 138651601 138651641 41 ATCTTGGGCGTGACGTCACCGTAGCCCACGGTGGAGAAGGT ATCTTGGGCGTGACGTCACCATAGCCCACGGTGGAGAAGGT Direct Gain 0 0.954132544182944 0 0.999204277992249 prediction 0.908265088365887 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138651621 chr9:138651621 synonymous SNV . 0 21 hm1A_associated_SNPs_31318 2 Likely benign Early infantile epileptic encephalopathy 14 RCV000473025.1
1269 chr9 138651621 138651621 1 + C T UVM 138651621 - 138651601 138651641 41 ATCTTGGGCGTGACGTCACCGTAGCCCACGGTGGAGAAGGT ATCTTGGGCGTGACGTCACCATAGCCCACGGTGGAGAAGGT Direct Gain 0 0.954132544182944 0 0.999204277992249 prediction 0.908265088365887 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138651621 chr9:138651621 synonymous SNV . 0 21 hm1A_associated_SNPs_31318 2 Likely benign Epilepsy, nocturnal frontal lobe, 5 RCV000473025.1
1269 chr2 178257552 178257552 1 + G A rs557931141 178257552 + 178257532 178257572 41 GGCTGCAGCGGGTGGGACTGGCTTGGGCGCGGGCGCGAGCT GGCTGCAGCGGGTGGGACTGACTTGGGCGCGGGCGCGAGCT Direct Gain 0 0.954131103818322 0 0.789674282073975 prediction 0.908262207636644 Functional Gain - AGPS ENSG00000018510 CDS Human protein_coding chr2:178257552 chr2:178257552 nonsynonymous SNV 0.032 1 21 hm1A_associated_SNPs_31320 2 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000348540.1
1269 chr2 178257552 178257552 1 + G A rs557931141 178257552 + 178257532 178257572 41 GGCTGCAGCGGGTGGGACTGGCTTGGGCGCGGGCGCGAGCT GGCTGCAGCGGGTGGGACTGACTTGGGCGCGGGCGCGAGCT Direct Gain 0 0.954131103818322 0 0.789674282073975 prediction 0.908262207636644 Functional Gain - AGPS ENSG00000018510 CDS Human protein_coding chr2:178257552 chr2:178257552 nonsynonymous SNV 0.032 1 21 hm1A_associated_SNPs_31320 2 Likely benign not specified RCV000423931.1
1269 chr19 50910642 50910642 1 + C T UCEC 50910642 - 50910622 50910662 41 GCTCGATGACAGTGGCTCCCGTGTAGTCCTCGCCGCCCTCT GCTCGATGACAGTGGCTCCCATGTAGTCCTCGCCGCCCTCT Direct Gain 0 0.953950465377616 0 0.991266012191772 prediction 0.907900930755232 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910642 chr19:50910642 nonsynonymous SNV 0.995 2 21 hm1A_associated_SNPs_31403 1 Uncertain significance Colorectal cancer 10 RCV000462303.1
1269 chr10 95372685 95372685 1 + C T rs62642544 95372685 - 95372665 95372705 41 TGCCCCCCTCCTCCTGCACGGTCCACAGCAGCTCCAAGCAC TGCCCCCCTCCTCCTGCACGATCCACAGCAGCTCCAAGCAC Direct Gain 0 0.953824172015829 0 0.423978328704834 prediction 0.907648344031657 Functional Gain - PDE6C ENSG00000095464 CDS Human protein_coding chr10:95372685 chr10:95372685 nonsynonymous SNV 0.000 1 21 hm1A_associated_SNPs_31459 3 Benign not specified RCV000253954.1
1269 chr10 95372685 95372685 1 + C T rs62642544 95372685 - 95372665 95372705 41 TGCCCCCCTCCTCCTGCACGGTCCACAGCAGCTCCAAGCAC TGCCCCCCTCCTCCTGCACGATCCACAGCAGCTCCAAGCAC Direct Gain 0 0.953824172015829 0 0.423978328704834 prediction 0.907648344031657 Functional Gain - PDE6C ENSG00000095464 CDS Human protein_coding chr10:95372685 chr10:95372685 nonsynonymous SNV 0.000 1 21 hm1A_associated_SNPs_31459 3 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000259406.1
1269 chr10 95372685 95372685 1 + C T rs62642544 95372685 - 95372665 95372705 41 TGCCCCCCTCCTCCTGCACGGTCCACAGCAGCTCCAAGCAC TGCCCCCCTCCTCCTGCACGATCCACAGCAGCTCCAAGCAC Direct Gain 0 0.953824172015829 0 0.423978328704834 prediction 0.907648344031657 Functional Gain - PDE6C ENSG00000095464 CDS Human protein_coding chr10:95372685 chr10:95372685 nonsynonymous SNV 0.000 1 21 hm1A_associated_SNPs_31459 3 Uncertain significance Achromatopsia RCV000361122.1
1269 chr21 47423621 47423621 1 + C T rs61735853 47423621 - 47423601 47423641 41 GCGCCGGACGAGGCCTCGCGGTAGAAGCGGGTCACATAGCC GCGCCGGACGAGGCCTCGCGATAGAAGCGGGTCACATAGCC Direct Gain 0 0.953764678396047 0 0.995458722114563 prediction 0.907529356792094 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423621 chr21:47423621 synonymous SNV . 0 21 hm1A_associated_SNPs_31487 2 other not specified RCV000079805.9
1269 chr21 47423621 47423621 1 + C T rs61735853 47423621 - 47423601 47423641 41 GCGCCGGACGAGGCCTCGCGGTAGAAGCGGGTCACATAGCC GCGCCGGACGAGGCCTCGCGATAGAAGCGGGTCACATAGCC Direct Gain 0 0.953764678396047 0 0.995458722114563 prediction 0.907529356792094 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423621 chr21:47423621 synonymous SNV . 0 21 hm1A_associated_SNPs_31487 2 Benign Collagen VI-related myopathy RCV000292706.1
1269 chr10 27793216 27793216 1 + C A rs115326586 27793216 + 27793196 27793236 41 GTGGCAGACGTGGAGCGGCGCGCATGCGCAGCAGCTCACTC GTGGCAGACGTGGAGCGGCGAGCATGCGCAGCAGCTCACTC Direct Gain 0 0.953592142672413 0 0.905943334102631 prediction 0.907184285344826 Functional Gain - RAB18 ENSG00000099246 UTR5 Human protein_coding chr10:27793216 chr10:27793216 . . 0 21 hm1A_associated_SNPs_31564 1 Uncertain significance Warburg micro syndrome RCV000391458.1
1269 chr7 128489424 128489424 1 + C T STAD 128489424 - 128489404 128489444 41 TGGCATCCACCGTGATCACCGTCTCCTGCCCAATCTGGATT TGGCATCCACCGTGATCACCATCTCCTGCCCAATCTGGATT Direct Gain 0 0.953418167871177 0 0.981620252132416 prediction 0.906836335742353 Functional Gain - FLNC ENSG00000128591 CDS Human protein_coding chr7:128489424 chr7:128489424 nonsynonymous SNV 0.997 5 21 hm1A_associated_SNPs_31634 1 Uncertain significance not specified RCV000498559.1
1269 chr3 122003716 122003716 1 + C T STAD 122003716 - 122003696 122003736 41 AGCTCAGTGAGAAGGTGACCGTGCCGCTGCCAAAGATGACC AGCTCAGTGAGAAGGTGACCATGCCGCTGCCAAAGATGACC Direct Gain 0 0.953055106053282 0 0.997908115386963 prediction 0.906110212106565 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003716 chr3:122003716 nonsynonymous SNV 0.858 5 21 hm1A_associated_SNPs_31790 4 Likely benign Hypocalcemia RCV000288087.1
1269 chr3 122003716 122003716 1 + C T STAD 122003716 - 122003696 122003736 41 AGCTCAGTGAGAAGGTGACCGTGCCGCTGCCAAAGATGACC AGCTCAGTGAGAAGGTGACCATGCCGCTGCCAAAGATGACC Direct Gain 0 0.953055106053282 0 0.997908115386963 prediction 0.906110212106565 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003716 chr3:122003716 nonsynonymous SNV 0.858 5 21 hm1A_associated_SNPs_31790 4 Likely benign Neonatal severe hyperparathyroidism RCV000345436.1
1269 chr3 122003716 122003716 1 + C T STAD 122003716 - 122003696 122003736 41 AGCTCAGTGAGAAGGTGACCGTGCCGCTGCCAAAGATGACC AGCTCAGTGAGAAGGTGACCATGCCGCTGCCAAAGATGACC Direct Gain 0 0.953055106053282 0 0.997908115386963 prediction 0.906110212106565 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003716 chr3:122003716 nonsynonymous SNV 0.858 5 21 hm1A_associated_SNPs_31790 4 Likely benign Hypoparathyroidism familial isolated RCV000383567.1
1269 chr3 122003716 122003716 1 + C T STAD 122003716 - 122003696 122003736 41 AGCTCAGTGAGAAGGTGACCGTGCCGCTGCCAAAGATGACC AGCTCAGTGAGAAGGTGACCATGCCGCTGCCAAAGATGACC Direct Gain 0 0.953055106053282 0 0.997908115386963 prediction 0.906110212106565 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003716 chr3:122003716 nonsynonymous SNV 0.858 5 21 hm1A_associated_SNPs_31790 4 Likely benign Familial hypocalciuric hypercalcemia RCV000389528.1
1269 chr16 89245890 89245890 1 + G T rs2287359 89245890 - 89245870 89245910 41 CACGCGGCTCAGGGCAGGCGCCCGGCGCCAGGGGTACAGGG CACGCGGCTCAGGGCAGGCGACCGGCGCCAGGGGTACAGGG Direct Gain 0 0.952944811484927 0 0.720898509025574 prediction 0.905889622969854 Functional Gain - CDH15 ENSG00000129910 CDS Human protein_coding chr16:89245890 chr16:89245890 nonsynonymous SNV 0.030 0 21 hm1A_associated_SNPs_31827 1 Likely benign not specified RCV000116614.2
1269 chr5 179247912 179247912 1 + G A rs74523483 179247912 + 179247892 179247932 41 GGCTGCGACCGGGACGGCCCGTTTTCCGCCAGCTCGCCGCT GGCTGCGACCGGGACGGCCCATTTTCCGCCAGCTCGCCGCT Direct Gain 0 0.952851980387753 0 0.999930202960968 prediction 0.905703960775505 Functional Gain - SQSTM1 ENSG00000161011 UTR5 Human protein_coding chr5:179247912 chr5:179247912 . . 0 21 hm1A_associated_SNPs_31865 1 Likely benign Paget disease of bone RCV000265717.1
1269 chr5 230997 230997 1 + C T STAD 230997 - 230977 231017 41 CAGCTGAAGTAGGTGCGCCCGTAGCCTCTGGAAACAATAGA CAGCTGAAGTAGGTGCGCCCATAGCCTCTGGAAACAATAGA Direct Gain 0 0.952826429818213 0 0.975896596908569 prediction 0.905652859636425 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:230997 chr5:230997 synonymous SNV . 0 21 hm1A_associated_SNPs_31876 2 Likely benign Mitochondrial complex II deficiency RCV000234552.1
1269 chr5 230997 230997 1 + C T STAD 230997 - 230977 231017 41 CAGCTGAAGTAGGTGCGCCCGTAGCCTCTGGAAACAATAGA CAGCTGAAGTAGGTGCGCCCATAGCCTCTGGAAACAATAGA Direct Gain 0 0.952826429818213 0 0.975896596908569 prediction 0.905652859636425 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:230997 chr5:230997 synonymous SNV . 0 21 hm1A_associated_SNPs_31876 2 Likely benign Paragangliomas 5 RCV000234552.1
1269 chr17 45331267 45331267 1 + G A rs115600591 45331267 + 45331247 45331287 41 CCCGGCCGCTCTGGGCGACTGTGCTGGCGCTGGGGGCGCTG CCCGGCCGCTCTGGGCGACTATGCTGGCGCTGGGGGCGCTG Direct Gain 0 0.952756340382182 0 0.963420033454895 prediction 0.905512680764365 Functional Gain - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45331267 chr17:45331267 nonsynonymous SNV 0.285 2 21 hm1A_associated_SNPs_31902 2 Likely benign not provided RCV000224944.1
1269 chr17 45331267 45331267 1 + G A rs115600591 45331267 + 45331247 45331287 41 CCCGGCCGCTCTGGGCGACTGTGCTGGCGCTGGGGGCGCTG CCCGGCCGCTCTGGGCGACTATGCTGGCGCTGGGGGCGCTG Direct Gain 0 0.952756340382182 0 0.963420033454895 prediction 0.905512680764365 Functional Gain - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45331267 chr17:45331267 nonsynonymous SNV 0.285 2 21 hm1A_associated_SNPs_31902 2 Likely benign Glanzmann thrombasthenia RCV000364007.1
1269 chr10 104263921 104263921 1 + G A rs189234140 104263921 + 104263901 104263941 41 CGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGG CGCACCCCGATGGCGGAGCTACGGCCTAGCGGCGCCCCCGG Direct Gain 0 0.952565584883131 0 0.847889304161072 prediction 0.905131169766263 Functional Gain - SUFU ENSG00000107882 CDS Human protein_coding chr10:104263921 chr10:104263921 synonymous SNV . 0 21 hm1A_associated_SNPs_31984 3 Benign Gorlin syndrome RCV000225937.2
1269 chr10 104263921 104263921 1 + G A rs189234140 104263921 + 104263901 104263941 41 CGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGG CGCACCCCGATGGCGGAGCTACGGCCTAGCGGCGCCCCCGG Direct Gain 0 0.952565584883131 0 0.847889304161072 prediction 0.905131169766263 Functional Gain - SUFU ENSG00000107882 CDS Human protein_coding chr10:104263921 chr10:104263921 synonymous SNV . 0 21 hm1A_associated_SNPs_31984 3 Benign Medulloblastoma RCV000225937.2
1269 chr10 104263921 104263921 1 + G A rs189234140 104263921 + 104263901 104263941 41 CGCACCCCGATGGCGGAGCTGCGGCCTAGCGGCGCCCCCGG CGCACCCCGATGGCGGAGCTACGGCCTAGCGGCGCCCCCGG Direct Gain 0 0.952565584883131 0 0.847889304161072 prediction 0.905131169766263 Functional Gain - SUFU ENSG00000107882 CDS Human protein_coding chr10:104263921 chr10:104263921 synonymous SNV . 0 21 hm1A_associated_SNPs_31984 3 Uncertain significance Medulloblastoma RCV000307678.1
1269 chr18 29178610 29178610 1 + C T rs28933981 29178610 - 29178590 29178630 41 TGGGATTGGTGACGACAGCCGTGGTGGAATAGGAGTAGGGG TGGGATTGGTGACGACAGCCATGGTGGAATAGGAGTAGGGG Direct Gain 0 0.952440200325477 0 0.989077985286713 prediction 0.904880400650954 Functional Gain - TTR ENSG00000118271 CDS Human protein_coding chr18:29178610 chr18:29178610 nonsynonymous SNV 0.713 5 21 hm1A_associated_SNPs_32037 3 other AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF RCV000014376.18
1269 chr18 29178610 29178610 1 + C T rs28933981 29178610 - 29178590 29178630 41 TGGGATTGGTGACGACAGCCGTGGTGGAATAGGAGTAGGGG TGGGATTGGTGACGACAGCCATGGTGGAATAGGAGTAGGGG Direct Gain 0 0.952440200325477 0 0.989077985286713 prediction 0.904880400650954 Functional Gain - TTR ENSG00000118271 CDS Human protein_coding chr18:29178610 chr18:29178610 nonsynonymous SNV 0.713 5 21 hm1A_associated_SNPs_32037 3 other not specified RCV000036376.3
1269 chr18 29178610 29178610 1 + C T rs28933981 29178610 - 29178590 29178630 41 TGGGATTGGTGACGACAGCCGTGGTGGAATAGGAGTAGGGG TGGGATTGGTGACGACAGCCATGGTGGAATAGGAGTAGGGG Direct Gain 0 0.952440200325477 0 0.989077985286713 prediction 0.904880400650954 Functional Gain - TTR ENSG00000118271 CDS Human protein_coding chr18:29178610 chr18:29178610 nonsynonymous SNV 0.713 5 21 hm1A_associated_SNPs_32037 3 Benign Amyloidogenic transthyretin amyloidosis RCV000475117.1
1269 chr20 47538333 47538333 1 + C T rs2273101 47538333 - 47538313 47538353 41 CCGGCGTCCCGGCCGGCACCGGCCGCGTCCGTCCGCGCCGC CCGGCGTCCCGGCCGGCACCAGCCGCGTCCGTCCGCGCCGC Direct Gain 0 0.952406296301437 0 0.990851521492004 prediction 0.904812592602874 Functional Gain - ARFGEF2 ENSG00000124198 upstream Human protein_coding chr20:47538333 chr20:47538333 . . 0 21 hm1A_associated_SNPs_32047 1 Likely benign Periventricular Heterotopia RCV000303102.1
1269 chr19 35521630 35521630 1 + C T rs569134158 35521630 - 35521610 35521650 41 GCGGCGGTTAGAATGTCCCCGGGAGCGCGCGGGCGCAGCAG GCGGCGGTTAGAATGTCCCCAGGAGCGCGCGGGCGCAGCAG Direct Gain 0 0.952365474395256 0 0.544743120670319 prediction 0.904730948790512 Functional Gain - SCN1B ENSG00000105711 UTR5 Human protein_coding chr19:35521630 chr19:35521630 . . 0 21 hm1A_associated_SNPs_32063 3 Likely benign Generalized epilepsy with febrile seizures plus RCV000262097.1
1269 chr19 35521630 35521630 1 + C T rs569134158 35521630 - 35521610 35521650 41 GCGGCGGTTAGAATGTCCCCGGGAGCGCGCGGGCGCAGCAG GCGGCGGTTAGAATGTCCCCAGGAGCGCGCGGGCGCAGCAG Direct Gain 0 0.952365474395256 0 0.544743120670319 prediction 0.904730948790512 Functional Gain - SCN1B ENSG00000105711 UTR5 Human protein_coding chr19:35521630 chr19:35521630 . . 0 21 hm1A_associated_SNPs_32063 3 Likely benign Cardiac conduction defect, nonspecific RCV000319533.1
1269 chr19 35521630 35521630 1 + C T rs569134158 35521630 - 35521610 35521650 41 GCGGCGGTTAGAATGTCCCCGGGAGCGCGCGGGCGCAGCAG GCGGCGGTTAGAATGTCCCCAGGAGCGCGCGGGCGCAGCAG Direct Gain 0 0.952365474395256 0 0.544743120670319 prediction 0.904730948790512 Functional Gain - SCN1B ENSG00000105711 UTR5 Human protein_coding chr19:35521630 chr19:35521630 . . 0 21 hm1A_associated_SNPs_32063 3 Likely benign Brugada syndrome RCV000354343.1
1269 chr1 160099970 160099970 1 + C T STAD 160099970 - 160099950 160099990 41 CACCAGGATGGTGGAGCACCGGTCCAGAATGCGCTCTGGGG CACCAGGATGGTGGAGCACCAGTCCAGAATGCGCTCTGGGG Direct Gain 0 0.952276463719242 0 0.103413432836533 prediction 0.904552927438484 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160099970 chr1:160099970 nonsynonymous SNV 1.000 4 21 hm1A_associated_SNPs_32108 1 Uncertain significance not specified RCV000423022.1
1269 chr5 131705723 131705723 1 + T A rs144020613 131705723 + 131705703 131705743 41 GTGGGGGCCCTTCCAGCGCCTCATCTTCTTCCTGCTCAGCG GTGGGGGCCCTTCCAGCGCCACATCTTCTTCCTGCTCAGCG Direct Gain 0 0.952081756206367 0 0.701901912689209 prediction 0.904163512412734 Functional Gain - SLC22A5 ENSG00000197375 CDS Human protein_coding chr5:131705723 chr5:131705723 nonsynonymous SNV 1.000 2 21 hm1A_associated_SNPs_32196 1 not provided Renal carnitine transport defect RCV000022299.2
1269 chr19 47258842 47258842 1 + C T rs2287717 47258842 - 47258822 47258862 41 AGGACGGTGACACGGGGGCCGGCAGCAGAGGCACGACGGGG AGGACGGTGACACGGGGGCCAGCAGCAGAGGCACGACGGGG Direct Gain 0 0.951979877707399 0 0.922817587852478 prediction 0.903959755414798 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258842 chr19:47258842 synonymous SNV . 0 21 hm1A_associated_SNPs_32241 1 other not specified RCV000082171.10
1269 chr2 179642620 179642620 1 + G A UCEC 179642620 + 179642600 179642640 41 CATTCTTGCAGGGGACATCCGTGCAGGAGACATCCTTGCAG CATTCTTGCAGGGGACATCCATGCAGGAGACATCCTTGCAG Direct Gain 0 0.95197485972745 0 0.987034678459167 prediction 0.903949719454899 Functional Gain - TTN ENSG00000155657 CDS Human protein_coding chr2:179642620 chr2:179642620 nonsynonymous SNV 0.987 2 21 hm1A_associated_SNPs_32245 2 Uncertain significance Dilated cardiomyopathy 1G RCV000472530.1
1269 chr2 179642620 179642620 1 + G A UCEC 179642620 + 179642600 179642640 41 CATTCTTGCAGGGGACATCCGTGCAGGAGACATCCTTGCAG CATTCTTGCAGGGGACATCCATGCAGGAGACATCCTTGCAG Direct Gain 0 0.95197485972745 0 0.987034678459167 prediction 0.903949719454899 Functional Gain - TTN ENSG00000155657 CDS Human protein_coding chr2:179642620 chr2:179642620 nonsynonymous SNV 0.987 2 21 hm1A_associated_SNPs_32245 2 Uncertain significance Limb-girdle muscular dystrophy, type 2J RCV000472530.1
1269 chr19 1220603 1220603 1 + C T rs569380138 1220603 - 1220583 1220623 41 TGGCTGGTCCGGCAGGTGTCGTCCGCCGCGAACGGGTGCAG TGGCTGGTCCGGCAGGTGTCATCCGCCGCGAACGGGTGCAG Direct Gain 0 0.951883585778698 0 0.258813381195068 prediction 0.903767171557397 Functional Gain - STK11 ENSG00000118046 CDS Human protein_coding chr19:1220603 chr19:1220603 synonymous SNV . 0 21 hm1A_associated_SNPs_32288 2 Likely benign Hereditary cancer-predisposing syndrome RCV000163122.1
1269 chr19 1220603 1220603 1 + C T rs569380138 1220603 - 1220583 1220623 41 TGGCTGGTCCGGCAGGTGTCGTCCGCCGCGAACGGGTGCAG TGGCTGGTCCGGCAGGTGTCATCCGCCGCGAACGGGTGCAG Direct Gain 0 0.951883585778698 0 0.258813381195068 prediction 0.903767171557397 Functional Gain - STK11 ENSG00000118046 CDS Human protein_coding chr19:1220603 chr19:1220603 synonymous SNV . 0 21 hm1A_associated_SNPs_32288 2 Likely benign Peutz-Jeghers syndrome RCV000230661.2
1269 chr3 52407041 52407041 1 + C T rs1546737 52407041 - 52407021 52407061 41 TTGCGGTCGTACCAGCCGCCGTGGTCCATCCACTGGCGCAA TTGCGGTCGTACCAGCCGCCATGGTCCATCCACTGGCGCAA Direct Gain 0 0.951842109331089 0 0.912211418151855 prediction 0.903684218662178 Functional Gain - DNAH1 ENSG00000114841 CDS Human protein_coding chr3:52407041 chr3:52407041 synonymous SNV . 0 21 hm1A_associated_SNPs_32299 1 Benign not specified RCV000455531.1
1269 chr9 140611573 140611573 1 + C T rs35570782 140611573 - 140611553 140611593 41 GGACCTTGACGTCGGCGCCAGGGGCCGGGAGCTTCCTGTCC GGACCTTGACGTCGGCGCCAAGGGCCGGGAGCTTCCTGTCC Direct Gain 0 0.951662451943081 0 0.204376488924026 prediction 0.903324903886162 Functional Gain - EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140611573 chr9:140611573 nonsynonymous SNV 0.003 1 21 hm1A_associated_SNPs_32374 1 Benign not specified RCV000177340.1
1269 chr4 140374987 140374987 1 + G A rs535498698 140374987 + 140374967 140375007 41 TCCAGAGGGCGGGAACCTTGGACGTGGCGGGGCTGGGTCAG TCCAGAGGGCGGGAACCTTGAACGTGGCGGGGCTGGGTCAG Direct Gain 0 0.951450987484267 0 0.393520504236221 prediction 0.902901974968534 Functional Gain - RAB33B ENSG00000273247 ncRNA_exonic Human antisense chr4:140374987 chr4:140374987 . . 0 21 hm1A_associated_SNPs_32478 1 Uncertain significance Smith-McCort dysplasia RCV000394880.1
1269 chr14 37132621 37132621 1 + C T STAD 37132621 - 37132601 37132641 41 TGGCAGGCACCCCGGGTGGCGTGGGCACCTTGGCGGCCGCC TGGCAGGCACCCCGGGTGGCATGGGCACCTTGGCGGCCGCC Direct Gain 0 0.95141149174034 0 0.394979506731033 prediction 0.902822983480681 Functional Gain - PAX9 ENSG00000198807 CDS Human protein_coding chr14:37132621 chr14:37132621 nonsynonymous SNV 0.993 4 21 hm1A_associated_SNPs_32488 1 Uncertain significance Selective tooth agenesis RCV000286437.1
1269 chr2 121726366 121726366 1 + C T rs142793481 121726366 - 121726346 121726386 41 CGCTGCAGGTCCAGGCTGGCGTCTGAGAGTGGGGAGATGGA CGCTGCAGGTCCAGGCTGGCATCTGAGAGTGGGGAGATGGA Direct Gain 0 0.95129773683768 0 0.201128035783768 prediction 0.90259547367536 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121726366 chr2:121726366 nonsynonymous SNV 0.987 1 21 hm1A_associated_SNPs_32540 2 Benign not specified RCV000243463.2
1269 chr2 121726366 121726366 1 + C T rs142793481 121726366 - 121726346 121726386 41 CGCTGCAGGTCCAGGCTGGCGTCTGAGAGTGGGGAGATGGA CGCTGCAGGTCCAGGCTGGCATCTGAGAGTGGGGAGATGGA Direct Gain 0 0.95129773683768 0 0.201128035783768 prediction 0.90259547367536 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121726366 chr2:121726366 nonsynonymous SNV 0.987 1 21 hm1A_associated_SNPs_32540 2 Likely benign Holoprosencephaly RCV000291688.1
1269 chr17 73751812 73751812 1 + C T rs140575355 73751812 - 73751792 73751832 41 AGAACACCAGGCGGGTGGGCGTGTCGGGCACACCAGCAGTC AGAACACCAGGCGGGTGGGCATGTCGGGCACACCAGCAGTC Direct Gain 0 0.95126946080387 0 0.20659413933754 prediction 0.902538921607739 Functional Gain - ITGB4 ENSG00000132470 CDS Human protein_coding chr17:73751812 chr17:73751812 nonsynonymous SNV 0.746 4 21 hm1A_associated_SNPs_32551 1 Uncertain significance Epidermolysis bullosa junctionalis with pyloric atresia RCV000380822.1
1269 chr5 126746147 126746147 1 + C T rs35550094 126746147 - 126746127 126746167 41 ACGTGGTAACACTTCCCTCCGTTGACACACTGGCAGGTCTC ACGTGGTAACACTTCCCTCCATTGACACACTGGCAGGTCTC Direct Gain 0 0.951265868187146 0 0.856668829917908 prediction 0.902531736374291 Functional Gain - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126746147 chr5:126746147 synonymous SNV . 0 21 hm1A_associated_SNPs_32553 1 Benign not specified RCV000248940.2
1269 chr6 106553183 106553183 1 + C T SKCM 106553183 - 106553163 106553203 41 GGTAGGAGCCCAAACCTTCCGTGCCGTAGGACGCGTTCAAG GGTAGGAGCCCAAACCTTCCATGCCGTAGGACGCGTTCAAG Direct Gain 0 0.951235821665273 0 0.999453902244568 prediction 0.902471643330546 Functional Gain - PRDM1 ENSG00000057657 CDS Human protein_coding chr6:106553183 chr6:106553183 nonsynonymous SNV 0.012 1 21 hm1A_associated_SNPs_32566 1 not provided not specified RCV000121871.1
1269 chr2 71801402 71801402 1 + C T rs201477760 71801402 - 71801382 71801422 41 CGGAAGGCATCTGTCTTGCGGTACTCGAGGTGGAACTTCCA CGGAAGGCATCTGTCTTGCGATACTCGAGGTGGAACTTCCA Direct Gain 0 0.951125611148391 0 0.69665789604187 prediction 0.902251222296782 Functional Gain - DYSF ENSG00000135636 CDS Human protein_coding chr2:71801402 chr2:71801402 synonymous SNV . 0 21 hm1A_associated_SNPs_32613 1 Likely benign not specified RCV000177463.4
1269 chr19 50902164 50902164 1 + G A rs3218773 50902164 + 50902144 50902184 41 GGTGCCCCCAAAGCGGGCCCGTGGGGGCCTCTGGGATGATG GGTGCCCCCAAAGCGGGCCCATGGGGGCCTCTGGGATGATG Direct Gain 0 0.951072556150197 0 0.998284339904785 prediction 0.902145112300394 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902164 chr19:50902164 nonsynonymous SNV 0.242 0 21 hm1A_associated_SNPs_32636 3 Benign Colorectal cancer 10 RCV000204841.2
1269 chr19 50902164 50902164 1 + G A rs3218773 50902164 + 50902144 50902184 41 GGTGCCCCCAAAGCGGGCCCGTGGGGGCCTCTGGGATGATG GGTGCCCCCAAAGCGGGCCCATGGGGGCCTCTGGGATGATG Direct Gain 0 0.951072556150197 0 0.998284339904785 prediction 0.902145112300394 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902164 chr19:50902164 nonsynonymous SNV 0.242 0 21 hm1A_associated_SNPs_32636 3 Likely benign Hereditary cancer-predisposing syndrome RCV000210816.1
1269 chr19 50902164 50902164 1 + G A rs3218773 50902164 + 50902144 50902184 41 GGTGCCCCCAAAGCGGGCCCGTGGGGGCCTCTGGGATGATG GGTGCCCCCAAAGCGGGCCCATGGGGGCCTCTGGGATGATG Direct Gain 0 0.951072556150197 0 0.998284339904785 prediction 0.902145112300394 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902164 chr19:50902164 nonsynonymous SNV 0.242 0 21 hm1A_associated_SNPs_32636 3 Likely benign not specified RCV000419509.1
1269 chr3 87276414 87276414 1 + C A rs538600777 87276414 + 87276394 87276434 41 TCCGTAGTGCGCAGGCGCCACACAACGCGCAGGCGCCGCCT TCCGTAGTGCGCAGGCGCCAAACAACGCGCAGGCGCCGCCT Direct Gain 0 0.951014682675113 0 0.176579922437668 prediction 0.902029365350226 Functional Gain - CHMP2B ENSG00000083937;ENSG00000264119 upstream Human other chr3:87276414 chr3:87276414 . . 0 21 hm1A_associated_SNPs_32664 1 Uncertain significance Frontotemporal dementia RCV000263633.1
1269 chr19 50909518 50909518 1 + C T COAD 50909518 - 50909498 50909538 41 CCTTGGTGTCCCGCCGGCCCGTCTGCTTGGACTGGAATGAA CCTTGGTGTCCCGCCGGCCCATCTGCTTGGACTGGAATGAA Direct Gain 0 0.950949751102894 0 0.968744039535522 prediction 0.901899502205788 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50909518 chr19:50909518 nonsynonymous SNV 0.835 0 21 hm1A_associated_SNPs_32693 2 Uncertain significance Colorectal cancer 10 RCV000226871.2
1269 chr19 50909518 50909518 1 + C T COAD 50909518 - 50909498 50909538 41 CCTTGGTGTCCCGCCGGCCCGTCTGCTTGGACTGGAATGAA CCTTGGTGTCCCGCCGGCCCATCTGCTTGGACTGGAATGAA Direct Gain 0 0.950949751102894 0 0.968744039535522 prediction 0.901899502205788 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50909518 chr19:50909518 nonsynonymous SNV 0.835 0 21 hm1A_associated_SNPs_32693 2 Uncertain significance not specified RCV000480965.1
1269 chr5 251542 251542 1 + C T COAD 251542 - 251522 251562 41 CGCGCCCCGTGACTCCTTCCGTGCCTCTGCTCCGTAGATGG CGCGCCCCGTGACTCCTTCCATGCCTCTGCTCCGTAGATGG Direct Gain 0 0.950875538941595 0 0.995969295501709 prediction 0.901751077883191 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:251542 chr5:251542 nonsynonymous SNV 0.664 4 21 hm1A_associated_SNPs_32720 4 Pathogenic Paragangliomas 5 RCV000148027.2
1269 chr5 251542 251542 1 + C T COAD 251542 - 251522 251562 41 CGCGCCCCGTGACTCCTTCCGTGCCTCTGCTCCGTAGATGG CGCGCCCCGTGACTCCTTCCATGCCTCTGCTCCGTAGATGG Direct Gain 0 0.950875538941595 0 0.995969295501709 prediction 0.901751077883191 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:251542 chr5:251542 nonsynonymous SNV 0.664 4 21 hm1A_associated_SNPs_32720 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000163558.2
1269 chr5 251542 251542 1 + C T COAD 251542 - 251522 251562 41 CGCGCCCCGTGACTCCTTCCGTGCCTCTGCTCCGTAGATGG CGCGCCCCGTGACTCCTTCCATGCCTCTGCTCCGTAGATGG Direct Gain 0 0.950875538941595 0 0.995969295501709 prediction 0.901751077883191 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:251542 chr5:251542 nonsynonymous SNV 0.664 4 21 hm1A_associated_SNPs_32720 4 Uncertain significance Mitochondrial complex II deficiency RCV000464783.1
1269 chr5 251542 251542 1 + C T COAD 251542 - 251522 251562 41 CGCGCCCCGTGACTCCTTCCGTGCCTCTGCTCCGTAGATGG CGCGCCCCGTGACTCCTTCCATGCCTCTGCTCCGTAGATGG Direct Gain 0 0.950875538941595 0 0.995969295501709 prediction 0.901751077883191 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:251542 chr5:251542 nonsynonymous SNV 0.664 4 21 hm1A_associated_SNPs_32720 4 Uncertain significance Paragangliomas 5 RCV000464783.1
1269 chr12 121416600 121416600 1 + C T PRAD 121416600 - 121416580 121416620 41 GCAGGGCCGCCAGGAGCTCCGTCTGCAGCTGGCTCAGTTTA GCAGGGCCGCCAGGAGCTCCATCTGCAGCTGGCTCAGTTTA Direct Gain 0 0.950797541262161 0 0.95138955116272 prediction 0.901595082524322 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121416600 chr12:121416600 nonsynonymous SNV 1.000 3 21 hm1A_associated_SNPs_32749 1 Likely pathogenic Maturity-onset diabetes of the young, type 3 RCV000500944.1
1269 chr1 10386367 10386367 1 + C T rs150831576 10386367 - 10386347 10386387 41 TCGTAAAACGGGTCATGCCCGTCACTGAAGAGATCTGATCC TCGTAAAACGGGTCATGCCCATCACTGAAGAGATCTGATCC Direct Gain 0 0.9504822828432 0 0.98827338218689 prediction 0.900964565686401 Functional Gain - KIF1B ENSG00000054523 CDS Human protein_coding chr1:10386367 chr1:10386367 synonymous SNV . 0 21 hm1A_associated_SNPs_32898 4 Likely benign Pheochromocytoma RCV000302800.1
1269 chr1 10386367 10386367 1 + C T rs150831576 10386367 - 10386347 10386387 41 TCGTAAAACGGGTCATGCCCGTCACTGAAGAGATCTGATCC TCGTAAAACGGGTCATGCCCATCACTGAAGAGATCTGATCC Direct Gain 0 0.9504822828432 0 0.98827338218689 prediction 0.900964565686401 Functional Gain - KIF1B ENSG00000054523 CDS Human protein_coding chr1:10386367 chr1:10386367 synonymous SNV . 0 21 hm1A_associated_SNPs_32898 4 Likely benign Charcot-Marie-Tooth, Type 2 RCV000356400.1
1269 chr1 10386367 10386367 1 + C T rs150831576 10386367 - 10386347 10386387 41 TCGTAAAACGGGTCATGCCCGTCACTGAAGAGATCTGATCC TCGTAAAACGGGTCATGCCCATCACTGAAGAGATCTGATCC Direct Gain 0 0.9504822828432 0 0.98827338218689 prediction 0.900964565686401 Functional Gain - KIF1B ENSG00000054523 CDS Human protein_coding chr1:10386367 chr1:10386367 synonymous SNV . 0 21 hm1A_associated_SNPs_32898 4 Likely benign Neuroblastoma RCV000398106.1
1269 chr1 10386367 10386367 1 + C T rs150831576 10386367 - 10386347 10386387 41 TCGTAAAACGGGTCATGCCCGTCACTGAAGAGATCTGATCC TCGTAAAACGGGTCATGCCCATCACTGAAGAGATCTGATCC Direct Gain 0 0.9504822828432 0 0.98827338218689 prediction 0.900964565686401 Functional Gain - KIF1B ENSG00000054523 CDS Human protein_coding chr1:10386367 chr1:10386367 synonymous SNV . 0 21 hm1A_associated_SNPs_32898 4 Benign Charcot-Marie-Tooth disease, type 2 RCV000473972.1
1269 chr7 141351366 141351366 1 + C T HNSC 141351366 - 141351346 141351386 41 GGCTGGCTTGGAGACACTCCGTGCCCTCCACGTGCAGCTTG GGCTGGCTTGGAGACACTCCATGCCCTCCACGTGCAGCTTG Direct Gain 0 0.950447679447233 0 0.696075856685638 prediction 0.900895358894466 Functional Gain - AGK ENSG00000006530 CDS Human protein_coding chr7:141351366 chr7:141351366 nonsynonymous SNV 0.135 1 21 hm1A_associated_SNPs_32920 3 Uncertain significance not specified RCV000200719.2
1269 chr7 141351366 141351366 1 + C T HNSC 141351366 - 141351346 141351386 41 GGCTGGCTTGGAGACACTCCGTGCCCTCCACGTGCAGCTTG GGCTGGCTTGGAGACACTCCATGCCCTCCACGTGCAGCTTG Direct Gain 0 0.950447679447233 0 0.696075856685638 prediction 0.900895358894466 Functional Gain - AGK ENSG00000006530 CDS Human protein_coding chr7:141351366 chr7:141351366 nonsynonymous SNV 0.135 1 21 hm1A_associated_SNPs_32920 3 Uncertain significance Congenital cataract RCV000288340.1
1269 chr7 141351366 141351366 1 + C T HNSC 141351366 - 141351346 141351386 41 GGCTGGCTTGGAGACACTCCGTGCCCTCCACGTGCAGCTTG GGCTGGCTTGGAGACACTCCATGCCCTCCACGTGCAGCTTG Direct Gain 0 0.950447679447233 0 0.696075856685638 prediction 0.900895358894466 Functional Gain - AGK ENSG00000006530 CDS Human protein_coding chr7:141351366 chr7:141351366 nonsynonymous SNV 0.135 1 21 hm1A_associated_SNPs_32920 3 Uncertain significance Cataract and cardiomyopathy RCV000345703.1
1269 chr21 47423454 47423454 1 + C T rs368561027 47423454 - 47423434 47423474 41 GTACTGCACCACCGCCACCCGCACGTCGTGGGCGGGGTCCG GTACTGCACCACCGCCACCCACACGTCGTGGGCGGGGTCCG Direct Gain 0 0.950426207795255 0 0.166288256645203 prediction 0.900852415590511 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423454 chr21:47423454 nonsynonymous SNV 0.048 5 21 hm1A_associated_SNPs_32936 1 Uncertain significance not specified RCV000079799.4
1269 chr4 6279407 6279407 1 + C T rs35216268 6279407 - 6279387 6279427 41 CCTGCTCCCTTACCGGTGCCGTCTGCTCTTTCCCGGCTCCT CCTGCTCCCTTACCGGTGCCATCTGCTCTTTCCCGGCTCCT Direct Gain 0 0.950291198019315 0 0.999760866165161 prediction 0.90058239603863 Functional Gain - WFS1 ENSG00000109501 CDS Human protein_coding chr4:6279407 chr4:6279407 synonymous SNV . 0 21 hm1A_associated_SNPs_32988 1 Benign not specified RCV000152663.2
1269 chr16 1252118 1252118 1 + C T rs2407083 1252118 - 1252098 1252138 41 CCTGGGGAAGGTGGCGAGGGGGGCGCGCCAGCTCGGACCAG CCTGGGGAAGGTGGCGAGGGAGGCGCGCCAGCTCGGACCAG Direct Gain 0 0.950235189016564 0 0.862120151519775 prediction 0.900470378033128 Functional Gain - CACNA1H ENSG00000196557 CDS Human protein_coding chr16:1252118 chr16:1252118 synonymous SNV . 0 21 hm1A_associated_SNPs_33009 1 Benign not specified RCV000082062.4
1269 chr3 58092578 58092578 1 + C T rs62621999 58092578 - 58092558 58092598 41 GATCAGGGTTGTAGCCTCCCGTGGCTGGGTGGATGAAGGCC GATCAGGGTTGTAGCCTCCCATGGCTGGGTGGATGAAGGCC Direct Gain 0 0.950205671730549 0 0.997544050216675 prediction 0.900411343461097 Functional Gain - FLNB ENSG00000136068 CDS Human protein_coding chr3:58092578 chr3:58092578 nonsynonymous SNV 0.393 1 21 hm1A_associated_SNPs_33023 1 Likely benign FLNB-Related Spectrum Disorders RCV000405532.1
1269 chr6 137143748 137143748 1 + C T rs73777751 137143748 - 137143728 137143768 41 GCGGAAGCCGTTCCGAGTCGGAGGCACACTGGCGCGGTTAG GCGGAAGCCGTTCCGAGTCGAAGGCACACTGGCGCGGTTAG Direct Gain 0 0.950186835086876 0 0.780170202255249 prediction 0.900373670173752 Functional Gain - PEX7 ENSG00000112357 UTR5 Human protein_coding chr6:137143748 chr6:137143748 . . 0 21 hm1A_associated_SNPs_33030 2 Benign Rhizomelic chondrodysplasia punctata RCV000300626.1
1269 chr6 137143748 137143748 1 + C T rs73777751 137143748 - 137143728 137143768 41 GCGGAAGCCGTTCCGAGTCGGAGGCACACTGGCGCGGTTAG GCGGAAGCCGTTCCGAGTCGAAGGCACACTGGCGCGGTTAG Direct Gain 0 0.950186835086876 0 0.780170202255249 prediction 0.900373670173752 Functional Gain - PEX7 ENSG00000112357 UTR5 Human protein_coding chr6:137143748 chr6:137143748 . . 0 21 hm1A_associated_SNPs_33030 2 Benign Phytanic acid storage disease RCV000336760.1
1269 chr4 186064443 186064443 1 + C A rs183128370 186064443 + 186064423 186064463 41 CCCCTAGCGTCGCGCAGGGTCGGGGACTGCGCGGCGGTGCC CCCCTAGCGTCGCGCAGGGTAGGGGACTGCGCGGCGGTGCC Direct Gain 0 0.950130794497173 0 0.979869961738586 prediction 0.900261588994345 Functional Gain - SLC25A4 ENSG00000151729 UTR5 Human protein_coding chr4:186064443 chr4:186064443 . . 0 21 hm1A_associated_SNPs_33065 1 Benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000327206.1
1269 chr19 50812342 50812342 1 + C T rs190695624 50812342 - 50812322 50812362 41 CGCTGCAGCCTCCGGCGGCCGGCCTGAGCCCGGGATGCCTC CGCTGCAGCCTCCGGCGGCCAGCCTGAGCCCGGGATGCCTC Direct Gain 0 0.950071479990728 0 0.952153861522675 prediction 0.900142959981457 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50812342 chr19:50812342 synonymous SNV . 0 21 hm1A_associated_SNPs_33091 2 Benign not specified RCV000037052.3
1269 chr19 50812342 50812342 1 + C T rs190695624 50812342 - 50812322 50812362 41 CGCTGCAGCCTCCGGCGGCCGGCCTGAGCCCGGGATGCCTC CGCTGCAGCCTCCGGCGGCCAGCCTGAGCCCGGGATGCCTC Direct Gain 0 0.950071479990728 0 0.952153861522675 prediction 0.900142959981457 Functional Gain - MYH14 ENSG00000105357 CDS Human protein_coding chr19:50812342 chr19:50812342 synonymous SNV . 0 21 hm1A_associated_SNPs_33091 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000350685.1
1269 chr17 8222870 8222870 1 + C T rs79993581 8222870 - 8222850 8222890 41 AGCCCTGGACTCCAGACTCCGTCCTTCAGTCTTGGCAGGTG AGCCCTGGACTCCAGACTCCATCCTTCAGTCTTGGCAGGTG Direct Gain 0 0.950051079570537 0 0.99438750743866 prediction 0.900102159141073 Functional Gain - ARHGEF15 ENSG00000198844 CDS Human protein_coding chr17:8222870 chr17:8222870 nonsynonymous SNV 0.122 2 21 hm1A_associated_SNPs_33101 1 Benign Early infantile epileptic encephalopathy RCV000229905.2
1269 chr18 72997865 72997865 1 + C T rs112669427 72997865 - 72997845 72997885 41 GCGTGCTCGTGGTGGGGCCAGTGGTGCTGACGGGGCAGGTG GCGTGCTCGTGGTGGGGCCAATGGTGCTGACGGGGCAGGTG Direct Gain 0 0.94996468198491 0 0.167060554027557 prediction 0.899929363969819 Functional Gain - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72997865 chr18:72997865 nonsynonymous SNV 0.001 1 21 hm1A_associated_SNPs_33143 2 Likely benign Aural atresia, congenital RCV000281581.1
1269 chr18 72997865 72997865 1 + C T rs112669427 72997865 - 72997845 72997885 41 GCGTGCTCGTGGTGGGGCCAGTGGTGCTGACGGGGCAGGTG GCGTGCTCGTGGTGGGGCCAATGGTGCTGACGGGGCAGGTG Direct Gain 0 0.94996468198491 0 0.167060554027557 prediction 0.899929363969819 Functional Gain - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72997865 chr18:72997865 nonsynonymous SNV 0.001 1 21 hm1A_associated_SNPs_33143 2 Likely benign not provided RCV000434334.1
1269 chr17 4905834 4905834 1 + C T LUAD 4905834 - 4905814 4905854 41 GCCCAGGATGGGGTGCTCCCGGACCCGCAGAGAACCCCGAC GCCCAGGATGGGGTGCTCCCAGACCCGCAGAGAACCCCGAC Direct Gain 0 0.949689921807007 0 0.143960565328598 prediction 0.899379843614014 Functional Gain - KIF1C ENSG00000129250 CDS Human protein_coding chr17:4905834 chr17:4905834 nonsynonymous SNV 1.000 4 21 hm1A_associated_SNPs_33270 1 Pathogenic Ataxia, spastic, 2, autosomal recessive RCV000087324.4
1269 chr6 3225605 3225605 1 + G A rs199547345 3225605 + 3225585 3225625 41 CAGCTGGCCCGGGAAGCGCAGGCAGGTGGTGACCCCGCTCA CAGCTGGCCCGGGAAGCGCAAGCAGGTGGTGACCCCGCTCA Direct Gain 0 0.949649180352257 0 0.247333586215973 prediction 0.899298360704513 Functional Gain - TUBB2B ENSG00000137285 CDS Human protein_coding chr6:3225605 chr6:3225605 synonymous SNV . 0 21 hm1A_associated_SNPs_33284 1 Benign not specified RCV000147843.1
1269 chr19 38954161 38954161 1 + C T COAD 38954161 - 38954141 38954181 41 AGGCAGCCCCTCACCGGGCCGTAGGTCCAGCCCTGCTCGAT AGGCAGCCCCTCACCGGGCCATAGGTCCAGCCCTGCTCGAT Direct Gain 0 0.949548574858117 0 0.203169912099838 prediction 0.899097149716234 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38954161 chr19:38954161 synonymous SNV . 0 21 hm1A_associated_SNPs_33328 5 Likely benign Neuromuscular disease, congenital, with uniform type 1 fiber RCV000263941.1
1269 chr19 38954161 38954161 1 + C T COAD 38954161 - 38954141 38954181 41 AGGCAGCCCCTCACCGGGCCGTAGGTCCAGCCCTGCTCGAT AGGCAGCCCCTCACCGGGCCATAGGTCCAGCCCTGCTCGAT Direct Gain 0 0.949548574858117 0 0.203169912099838 prediction 0.899097149716234 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38954161 chr19:38954161 synonymous SNV . 0 21 hm1A_associated_SNPs_33328 5 Likely benign Multiminicore Disease RCV000304164.1
1269 chr19 38954161 38954161 1 + C T COAD 38954161 - 38954141 38954181 41 AGGCAGCCCCTCACCGGGCCGTAGGTCCAGCCCTGCTCGAT AGGCAGCCCCTCACCGGGCCATAGGTCCAGCCCTGCTCGAT Direct Gain 0 0.949548574858117 0 0.203169912099838 prediction 0.899097149716234 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38954161 chr19:38954161 synonymous SNV . 0 21 hm1A_associated_SNPs_33328 5 Likely benign Malignant hyperthermia susceptibility RCV000319110.1
1269 chr19 38954161 38954161 1 + C T COAD 38954161 - 38954141 38954181 41 AGGCAGCCCCTCACCGGGCCGTAGGTCCAGCCCTGCTCGAT AGGCAGCCCCTCACCGGGCCATAGGTCCAGCCCTGCTCGAT Direct Gain 0 0.949548574858117 0 0.203169912099838 prediction 0.899097149716234 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38954161 chr19:38954161 synonymous SNV . 0 21 hm1A_associated_SNPs_33328 5 Likely benign Central core disease RCV000358911.1
1269 chr19 38954161 38954161 1 + C T COAD 38954161 - 38954141 38954181 41 AGGCAGCCCCTCACCGGGCCGTAGGTCCAGCCCTGCTCGAT AGGCAGCCCCTCACCGGGCCATAGGTCCAGCCCTGCTCGAT Direct Gain 0 0.949548574858117 0 0.203169912099838 prediction 0.899097149716234 Functional Gain - RYR1 ENSG00000196218 CDS Human protein_coding chr19:38954161 chr19:38954161 synonymous SNV . 0 21 hm1A_associated_SNPs_33328 5 Likely benign not specified RCV000431593.1
1269 chr3 15686958 15686958 1 + C T UCEC 15686958 - 15686938 15686978 41 AGCGCCCATAGAGAGCCGCCGTCACCAGCCCAGAGGACAGC AGCGCCCATAGAGAGCCGCCATCACCAGCCCAGAGGACAGC Direct Gain 0 0.949539614319267 0 0.998977661132812 prediction 0.899079228638535 Functional Gain - BTD ENSG00000169814 CDS Human protein_coding chr3:15686958 chr3:15686958 nonsynonymous SNV 0.262 5 21 hm1A_associated_SNPs_33334 2 Pathogenic Biotinidase deficiency RCV000001974.5
1269 chr3 15686958 15686958 1 + C T UCEC 15686958 - 15686938 15686978 41 AGCGCCCATAGAGAGCCGCCGTCACCAGCCCAGAGGACAGC AGCGCCCATAGAGAGCCGCCATCACCAGCCCAGAGGACAGC Direct Gain 0 0.949539614319267 0 0.998977661132812 prediction 0.899079228638535 Functional Gain - BTD ENSG00000169814 CDS Human protein_coding chr3:15686958 chr3:15686958 nonsynonymous SNV 0.262 5 21 hm1A_associated_SNPs_33334 2 Pathogenic not provided RCV000185809.3
1269 chr3 10183788 10183788 1 + C T KIRC 10183788 - 10183768 10183808 41 CGTCGAAGTTGAGCCATACGGGCAGCACGACGCGCGGACTG CGTCGAAGTTGAGCCATACGAGCAGCACGACGCGCGGACTG Direct Gain 0 0.949399449106451 0 0.742337584495544 prediction 0.898798898212901 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183788 chr3:10183788 nonsynonymous SNV 0.537 5 21 hm1A_associated_SNPs_33397 2 Pathogenic Von Hippel-Lindau syndrome RCV000208836.1
1269 chr3 10183788 10183788 1 + C T KIRC 10183788 - 10183768 10183808 41 CGTCGAAGTTGAGCCATACGGGCAGCACGACGCGCGGACTG CGTCGAAGTTGAGCCATACGAGCAGCACGACGCGCGGACTG Direct Gain 0 0.949399449106451 0 0.742337584495544 prediction 0.898798898212901 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183788 chr3:10183788 nonsynonymous SNV 0.537 5 21 hm1A_associated_SNPs_33397 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000492524.1
1269 chr13 40229957 40229957 1 + T A rs3812883 40229957 + 40229937 40229977 41 GCGGGACCTCGGCGACGACCTGCAACCCGCTGTCGCGCAAG GCGGGACCTCGGCGACGACCAGCAACCCGCTGTCGCGCAAG Direct Gain 0 0.949299844925164 0 0.520781219005585 prediction 0.898599689850329 Functional Gain - COG6 ENSG00000133103 CDS Human protein_coding chr13:40229957 chr13:40229957 nonsynonymous SNV 0.205 0 21 hm1A_associated_SNPs_33440 2 Benign not specified RCV000173506.2
1269 chr13 40229957 40229957 1 + T A rs3812883 40229957 + 40229937 40229977 41 GCGGGACCTCGGCGACGACCTGCAACCCGCTGTCGCGCAAG GCGGGACCTCGGCGACGACCAGCAACCCGCTGTCGCGCAAG Direct Gain 0 0.949299844925164 0 0.520781219005585 prediction 0.898599689850329 Functional Gain - COG6 ENSG00000133103 CDS Human protein_coding chr13:40229957 chr13:40229957 nonsynonymous SNV 0.205 0 21 hm1A_associated_SNPs_33440 2 Benign Congenital disorder of glycosylation RCV000377970.1
1269 chr21 47551894 47551894 1 + C T COAD 47551894 - 47551874 47551914 41 GAAGACGATGTCCACGGGCCGCTGCGTGCACTGTGCCACGG GAAGACGATGTCCACGGGCCACTGCGTGCACTGTGCCACGG Direct Gain 0 0.94914675683402 0 0.98220831155777 prediction 0.89829351366804 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47551894 chr21:47551894 nonsynonymous SNV 0.980 4 21 hm1A_associated_SNPs_33507 1 Uncertain significance not specified RCV000357521.1
1269 chr20 56138178 56138178 1 + C T rs28359544 56138178 - 56138158 56138198 41 CCGAGCAGCGAGTTCCCGCCGTACCCACTGCCAAAGGAGAT CCGAGCAGCGAGTTCCCGCCATACCCACTGCCAAAGGAGAT Direct Gain 0 0.948772159669635 0 0.956493496894836 prediction 0.89754431933927 Functional Gain - PCK1 ENSG00000124253 CDS Human protein_coding chr20:56138178 chr20:56138178 synonymous SNV . 0 21 hm1A_associated_SNPs_33685 1 Likely benign Phosphoenolpyruvate carboxykinase (GTP) deficiency RCV000343804.1
1269 chr17 42426587 42426587 1 + C T rs63750723 42426587 - 42426567 42426607 41 GAACTGACCATCTGGGCACCGCGTTCCAGCCACCAGCCCTG GAACTGACCATCTGGGCACCACGTTCCAGCCACCAGCCCTG Direct Gain 0 0.948601772958792 0 0.650048196315765 prediction 0.897203545917583 Functional Gain - GRN ENSG00000030582 CDS Human protein_coding chr17:42426587 chr17:42426587 nonsynonymous SNV 0.292 0 21 hm1A_associated_SNPs_33767 3 not provided not provided RCV000084422.1
1269 chr17 42426587 42426587 1 + C T rs63750723 42426587 - 42426567 42426607 41 GAACTGACCATCTGGGCACCGCGTTCCAGCCACCAGCCCTG GAACTGACCATCTGGGCACCACGTTCCAGCCACCAGCCCTG Direct Gain 0 0.948601772958792 0 0.650048196315765 prediction 0.897203545917583 Functional Gain - GRN ENSG00000030582 CDS Human protein_coding chr17:42426587 chr17:42426587 nonsynonymous SNV 0.292 0 21 hm1A_associated_SNPs_33767 3 Benign not specified RCV000246460.1
1269 chr17 42426587 42426587 1 + C T rs63750723 42426587 - 42426567 42426607 41 GAACTGACCATCTGGGCACCGCGTTCCAGCCACCAGCCCTG GAACTGACCATCTGGGCACCACGTTCCAGCCACCAGCCCTG Direct Gain 0 0.948601772958792 0 0.650048196315765 prediction 0.897203545917583 Functional Gain - GRN ENSG00000030582 CDS Human protein_coding chr17:42426587 chr17:42426587 nonsynonymous SNV 0.292 0 21 hm1A_associated_SNPs_33767 3 Likely benign Frontotemporal dementia RCV000378525.1
1269 chr10 43604602 43604602 1 + C T UCEC 43604602 - 43604582 43604622 41 GCAGGCTGACCGGCAGCACCGACACGTTGAAGTGGAGCAAG GCAGGCTGACCGGCAGCACCAACACGTTGAAGTGGAGCAAG Direct Gain 0 0.948561366854529 0 0.944016993045807 prediction 0.897122733709058 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43604602 chr10:43604602 nonsynonymous SNV 0.332 1 21 hm1A_associated_SNPs_33781 2 Uncertain significance Multiple endocrine neoplasia, type 2b RCV000410233.1
1269 chr10 43604602 43604602 1 + C T UCEC 43604602 - 43604582 43604622 41 GCAGGCTGACCGGCAGCACCGACACGTTGAAGTGGAGCAAG GCAGGCTGACCGGCAGCACCAACACGTTGAAGTGGAGCAAG Direct Gain 0 0.948561366854529 0 0.944016993045807 prediction 0.897122733709058 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43604602 chr10:43604602 nonsynonymous SNV 0.332 1 21 hm1A_associated_SNPs_33781 2 Uncertain significance Multiple endocrine neoplasia, type 2a RCV000411297.1
1269 chr7 92077203 92077203 1 + G A rs10281879 92077203 + 92077183 92077223 41 GGGCGGCTGGAGGGACTGGGGGCAGCGGCGGCGGCGGCTTC GGGCGGCTGGAGGGACTGGGAGCAGCGGCGGCGGCGGCTTC Direct Gain 0 0.948439800909599 0 0.981874227523804 prediction 0.896879601819198 Functional Gain - GATAD1 ENSG00000157259 CDS Human protein_coding chr7:92077203 chr7:92077203 nonsynonymous SNV 0.817 1 21 hm1A_associated_SNPs_33834 1 Benign not specified RCV000039054.4
1269 chr12 2760796 2760796 1 + C T STAD 2760796 - 2760776 2760816 41 TCCTCTGCGTTCTGGAACCCGTCGGCAACAGGAGGTGCAGT TCCTCTGCGTTCTGGAACCCATCGGCAACAGGAGGTGCAGT Direct Gain 0 0.948379828487862 0 0.99567699432373 prediction 0.896759656975723 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760796 chr12:2760796 synonymous SNV . 0 21 hm1A_associated_SNPs_33865 3 Uncertain significance Timothy syndrome RCV000347530.1
1269 chr12 2760796 2760796 1 + C T STAD 2760796 - 2760776 2760816 41 TCCTCTGCGTTCTGGAACCCGTCGGCAACAGGAGGTGCAGT TCCTCTGCGTTCTGGAACCCATCGGCAACAGGAGGTGCAGT Direct Gain 0 0.948379828487862 0 0.99567699432373 prediction 0.896759656975723 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760796 chr12:2760796 synonymous SNV . 0 21 hm1A_associated_SNPs_33865 3 Uncertain significance Brugada syndrome RCV000399059.1
1269 chr12 2760796 2760796 1 + C T STAD 2760796 - 2760776 2760816 41 TCCTCTGCGTTCTGGAACCCGTCGGCAACAGGAGGTGCAGT TCCTCTGCGTTCTGGAACCCATCGGCAACAGGAGGTGCAGT Direct Gain 0 0.948379828487862 0 0.99567699432373 prediction 0.896759656975723 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760796 chr12:2760796 synonymous SNV . 0 21 hm1A_associated_SNPs_33865 3 Likely benign Long QT syndrome RCV000465888.1
1269 chr7 299850 299850 1 + G T rs36170987 299850 - 299830 299870 41 CAGTCCCGGACGGCCTTTAGCACGACGCGGAGCCGCCGGTC CAGTCCCGGACGGCCTTTAGAACGACGCGGAGCCGCCGGTC Direct Gain 0 0.948225252847036 0 0.916946411132812 prediction 0.896450505694072 Functional Gain - FAM20C ENSG00000177706 CDS Human protein_coding chr7:299850 chr7:299850 synonymous SNV . 0 21 hm1A_associated_SNPs_33940 1 Benign not specified RCV000173884.1
1269 chr10 73464824 73464824 1 + C T STAD 73464824 - 73464804 73464844 41 TGCATCACTGGCCACCACCCGCAGCTGGTACTCCGCGATGC TGCATCACTGGCCACCACCCACAGCTGGTACTCCGCGATGC Direct Gain 0 0.948198417572635 0 0.0893582999706268 prediction 0.89639683514527 Functional Gain - CDH23 ENSG00000107736 CDS Human protein_coding chr10:73464824 chr10:73464824 nonsynonymous SNV 0.998 3 21 hm1A_associated_SNPs_33955 1 Uncertain significance not specified RCV000377715.1
1269 chr11 67816583 67816583 1 + C T STAD 67816583 - 67816563 67816603 41 GGAAGGTGAGCTCCGGCAGCGTCTCCAGCAGCAGCCGGTGC GGAAGGTGAGCTCCGGCAGCATCTCCAGCAGCAGCCGGTGC Direct Gain 0 0.948115094041375 0 0.442542552947998 prediction 0.896230188082749 Functional Gain - TCIRG1 ENSG00000110719 CDS Human protein_coding chr11:67816583 chr11:67816583 nonsynonymous SNV 0.964 3 21 hm1A_associated_SNPs_33990 1 Uncertain significance Osteopetrosis RCV000342076.1
1269 chr19 11098454 11098454 1 + C T UCEC 11098454 - 11098434 11098474 41 TGGGTCTGCGGTGGCATCACGGGCGAGGCGGCGGGTGGGAC TGGGTCTGCGGTGGCATCACAGGCGAGGCGGCGGGTGGGAC Direct Gain 0 0.948089168546784 0 0.10026827454567 prediction 0.896178337093568 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098454 chr19:11098454 synonymous SNV . 0 21 hm1A_associated_SNPs_34000 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000228437.2
1269 chr20 30414693 30414693 1 + C T UCEC 30414693 - 30414673 30414713 41 TTGTGCATGAAGAGGATCCCGTCACAGATCTGCCTGACAAA TTGTGCATGAAGAGGATCCCATCACAGATCTGCCTGACAAA Direct Gain 0 0.94781305671696 0 0.997627139091492 prediction 0.89562611343392 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30414693 chr20:30414693 synonymous SNV . 0 21 hm1A_associated_SNPs_34137 1 Likely benign not specified RCV000151382.2
1269 chr19 50339573 50339573 1 + C T rs201969940 50339573 - 50339553 50339593 41 CCCCAACTGGGGCTGCCCCAGGCCCTGGTGCGGCGGAGGCA CCCCAACTGGGGCTGCCCCAAGCCCTGGTGCGGCGGAGGCA Direct Gain 0 0.94776141792572 0 0.796073496341705 prediction 0.895522835851441 Functional Gain - MED25 ENSG00000104973 CDS Human protein_coding chr19:50339573 chr19:50339573 synonymous SNV . 0 21 hm1A_associated_SNPs_34168 1 Benign Charcot-Marie-Tooth disease, type 2 RCV000462056.1
1269 chr19 42795597 42795597 1 + C T rs142397024 42795597 - 42795577 42795617 41 TTTGGGGGGTGGGGCGGAGGGTACAGACTGCAGGATGGGGA TTTGGGGGGTGGGGCGGAGGATACAGACTGCAGGATGGGGA Direct Gain 0 0.947751253388564 0 0.891696035861969 prediction 0.895502506777129 Functional Gain - CIC ENSG00000079432 CDS Human protein_coding chr19:42795597 chr19:42795597 nonsynonymous SNV 1.000 2 21 hm1A_associated_SNPs_34174 1 not provided not specified RCV000120567.1
1269 chr10 81371698 81371698 1 + C T rs72659390 81371698 - 81371678 81371718 41 CCGTCCCTGCCTGGCAGGCCGTGGGATCCAGGAGTGCCGGG CCGTCCCTGCCTGGCAGGCCATGGGATCCAGGAGTGCCGGG Direct Gain 0 0.947701985366572 0 0.623278796672821 prediction 0.895403970733143 Functional Gain - SFTPA1 ENSG00000122852 CDS Human protein_coding chr10:81371698 chr10:81371698 synonymous SNV . 0 21 hm1A_associated_SNPs_34195 1 Benign not specified RCV000214373.1
1269 chrX 70389650 70389650 1 + C T rs5981083 70389650 - 70389630 70389670 41 GCTCCCAACTCCGGGGCCCCGGCTCCCCGCTGAGGGCTAGG GCTCCCAACTCCGGGGCCCCAGCTCCCCGCTGAGGGCTAGG Direct Gain 0 0.947701069029725 0 0.0593707859516144 prediction 0.895402138059451 Functional Gain - NLGN3 ENSG00000196338 CDS Human protein_coding chrX:70389650 chrX:70389650 synonymous SNV . 0 21 hm1A_associated_SNPs_34197 1 Benign not specified RCV000081974.4
1269 chr2 189839136 189839136 1 + G A rs41265575 189839136 + 189839116 189839156 41 GGCCCGGTGCTGAAGGGCAGGGAACAACTTGATGGTGCTAC GGCCCGGTGCTGAAGGGCAGAGAACAACTTGATGGTGCTAC Direct Gain 0 0.947582474579623 0 0.102652877569199 prediction 0.895164949159247 Functional Gain - COL3A1 ENSG00000168542 UTR5 Human protein_coding chr2:189839136 chr2:189839136 . . 0 21 hm1A_associated_SNPs_34245 1 Likely benign Ehlers-Danlos syndrome, type 4 RCV000259386.1
1269 chr9 124091559 124091559 1 + C T UCEC 124091559 - 124091539 124091579 41 CCAGAAGCATGACGTCATCCGTTGCCAGGTCTTCCTGCATG CCAGAAGCATGACGTCATCCATTGCCAGGTCTTCCTGCATG Direct Gain 0 0.947495336640726 0 0.997762322425842 prediction 0.894990673281451 Functional Gain - GSN ENSG00000148180 CDS Human protein_coding chr9:124091559 chr9:124091559 nonsynonymous SNV 0.115 4 21 hm1A_associated_SNPs_34283 1 Likely benign Amyloidosis RCV000291668.1
1269 chr1 957640 957640 1 + C T rs6657048 957640 - 957620 957660 41 ATCACCACCTTGTTGCCGCCGTCCAGCAGGCTCTCCCGGGC ATCACCACCTTGTTGCCGCCATCCAGCAGGCTCTCCCGGGC Direct Gain 0 0.947278143796002 0 0.966493904590607 prediction 0.894556287592003 Functional Gain - AGRN ENSG00000188157 CDS Human protein_coding chr1:957640 chr1:957640 synonymous SNV . 0 21 hm1A_associated_SNPs_34404 1 other not specified RCV000116258.3
1269 chr1 27023252 27023252 1 + C T rs571264557 27023252 - 27023232 27023272 41 GCCACCGCCGCCGCCGGGCGGCTCCGTGAGGTTATTGTTCA GCCACCGCCGCCGCCGGGCGACTCCGTGAGGTTATTGTTCA Direct Gain 0 0.947218458584361 0 0.996384084224701 prediction 0.894436917168722 Functional Gain - ARID1A ENSG00000117713 CDS Human protein_coding chr1:27023252 chr1:27023252 nonsynonymous SNV 1.000 0 21 hm1A_associated_SNPs_34430 1 Uncertain significance not specified RCV000503505.1
1269 chr2 128186201 128186201 1 + C T SKCM 128186201 - 128186181 128186221 41 AAGTTGAGGACGAAGGTGCGGTTTCTCTTGGCCTCCTTCTC AAGTTGAGGACGAAGGTGCGATTTCTCTTGGCCTCCTTCTC Direct Gain 0 0.947130996490133 0 0.197106808423996 prediction 0.894261992980265 Functional Gain - PROC ENSG00000115718 CDS Human protein_coding chr2:128186201 chr2:128186201 synonymous SNV . 0 21 hm1A_associated_SNPs_34475 1 Uncertain significance Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant RCV000315159.1
1269 chr21 47831802 47831802 1 + C T rs575313866 47831802 - 47831782 47831822 41 CACCTGGCACCTCAGGAACCGCTGGTGCAGCACCTGCAGCT CACCTGGCACCTCAGGAACCACTGGTGCAGCACCTGCAGCT Direct Gain 0 0.947083239218776 0 0.064371794462204 prediction 0.894166478437552 Functional Gain - PCNT ENSG00000160299 CDS Human protein_coding chr21:47831802 chr21:47831802 nonsynonymous SNV 0.017 0 21 hm1A_associated_SNPs_34497 1 Likely benign not specified RCV000501888.1
1269 chr1 237550598 237550598 1 + C T COAD 237550598 - 237550578 237550618 41 GCATCCACGTGTAAGCTGCCGTTGCCATAAGACAAGTGCTG GCATCCACGTGTAAGCTGCCATTGCCATAAGACAAGTGCTG Direct Gain 0 0.947026582633053 0 0.491479396820068 prediction 0.894053165266105 Functional Gain - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237550598 chr1:237550598 synonymous SNV . 0 21 hm1A_associated_SNPs_34531 1 Likely benign not specified RCV000155944.2
1269 chr12 2760898 2760898 1 + C T rs56180838 2760898 - 2760878 2760918 41 AAGGTCCACAGCAGCGTCCGGATGCCCTCCCCACGGCTCAG AAGGTCCACAGCAGCGTCCGAATGCCCTCCCCACGGCTCAG Direct Gain 0 0.946799027669646 0 0.559474468231201 prediction 0.893598055339292 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760898 chr12:2760898 synonymous SNV . 0 21 hm1A_associated_SNPs_34641 5 Benign not specified RCV000124082.4
1269 chr12 2760898 2760898 1 + C T rs56180838 2760898 - 2760878 2760918 41 AAGGTCCACAGCAGCGTCCGGATGCCCTCCCCACGGCTCAG AAGGTCCACAGCAGCGTCCGAATGCCCTCCCCACGGCTCAG Direct Gain 0 0.946799027669646 0 0.559474468231201 prediction 0.893598055339292 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760898 chr12:2760898 synonymous SNV . 0 21 hm1A_associated_SNPs_34641 5 Benign Cardiovascular phenotype RCV000254466.1
1269 chr12 2760898 2760898 1 + C T rs56180838 2760898 - 2760878 2760918 41 AAGGTCCACAGCAGCGTCCGGATGCCCTCCCCACGGCTCAG AAGGTCCACAGCAGCGTCCGAATGCCCTCCCCACGGCTCAG Direct Gain 0 0.946799027669646 0 0.559474468231201 prediction 0.893598055339292 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760898 chr12:2760898 synonymous SNV . 0 21 hm1A_associated_SNPs_34641 5 Likely benign Timothy syndrome RCV000297349.1
1269 chr12 2760898 2760898 1 + C T rs56180838 2760898 - 2760878 2760918 41 AAGGTCCACAGCAGCGTCCGGATGCCCTCCCCACGGCTCAG AAGGTCCACAGCAGCGTCCGAATGCCCTCCCCACGGCTCAG Direct Gain 0 0.946799027669646 0 0.559474468231201 prediction 0.893598055339292 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760898 chr12:2760898 synonymous SNV . 0 21 hm1A_associated_SNPs_34641 5 Likely benign Brugada syndrome RCV000397444.1
1269 chr12 2760898 2760898 1 + C T rs56180838 2760898 - 2760878 2760918 41 AAGGTCCACAGCAGCGTCCGGATGCCCTCCCCACGGCTCAG AAGGTCCACAGCAGCGTCCGAATGCCCTCCCCACGGCTCAG Direct Gain 0 0.946799027669646 0 0.559474468231201 prediction 0.893598055339292 Functional Gain - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2760898 chr12:2760898 synonymous SNV . 0 21 hm1A_associated_SNPs_34641 5 Benign Long QT syndrome RCV000466502.1