1 chr5 70945075 70945075 1 + A G rs10064079 70945064 + 70945044 70945084 41 GAGCCGGAAACTATGGGATGTGTGGCAGAGCATATAGGTAG GAGCCGGAAACTATGGGATGTGTGGCAGAGCGTATAGGTAG < 41bp 1 0.321800805108525 Functional Loss -0.678199194891475 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock MCCC2 ENSG00000131844 CDS Human protein_coding chr5:70945064 chr5:70945075 synonymous SNV . 0 32 hPsi_associated_SNPs_69 2 Benign not specified RCV000082093.5
2 chr5 70945075 70945075 1 + A G rs10064079 70945064 + 70945044 70945084 41 GAGCCGGAAACTATGGGATGTGTGGCAGAGCATATAGGTAG GAGCCGGAAACTATGGGATGTGTGGCAGAGCGTATAGGTAG < 41bp 1 0.321800805108525 Functional Loss -0.678199194891475 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock MCCC2 ENSG00000131844 CDS Human protein_coding chr5:70945064 chr5:70945075 synonymous SNV . 0 32 hPsi_associated_SNPs_69 2 Benign 3-MCC Deficiency RCV000333305.1
3 chr5 82836403 82836403 1 + C T rs149880697 82836401 + 82836381 82836421 41 TCCAAGACCGTTTCAGGGAATTCGAGGATTCCACCTTAAAA TCCAAGACCGTTTCAGGGAATTTGAGGATTCCACCTTAAAA < 41bp 1 0.349128615987877 Functional Loss -0.650871384012123 NA| VCAN ENSG00000038427 CDS Human protein_coding chr5:82836401 chr5:82836403 synonymous SNV . 0 23 hPsi_associated_SNPs_71 2 Likely benign Vitreoretinopathy RCV000289927.1
4 chr5 82836403 82836403 1 + C T rs149880697 82836401 + 82836381 82836421 41 TCCAAGACCGTTTCAGGGAATTCGAGGATTCCACCTTAAAA TCCAAGACCGTTTCAGGGAATTTGAGGATTCCACCTTAAAA < 41bp 1 0.349128615987877 Functional Loss -0.650871384012123 NA| VCAN ENSG00000038427 CDS Human protein_coding chr5:82836401 chr5:82836403 synonymous SNV . 0 23 hPsi_associated_SNPs_71 2 Likely benign Wagner syndrome RCV000349681.1
5 chr13 32953550 32953550 1 + G A rs11571769 32953554 + 32953534 32953574 41 GTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGG GTTGGAAATTAGGAAGACCATGGAATCTGCTGAACAAAAGG < 41bp 1 0.261285784416878 Functional Loss -0.738714215583122 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32953554 chr13:32953550 nonsynonymous SNV 0.942 4 17 hPsi_associated_SNPs_172 7 Benign not provided RCV000034468.4
6 chr13 32953550 32953550 1 + G A rs11571769 32953554 + 32953534 32953574 41 GTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGG GTTGGAAATTAGGAAGACCATGGAATCTGCTGAACAAAAGG < 41bp 1 0.261285784416878 Functional Loss -0.738714215583122 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32953554 chr13:32953550 nonsynonymous SNV 0.942 4 17 hPsi_associated_SNPs_172 7 other Hereditary breast and ovarian cancer syndrome RCV000045643.9
7 chr13 32953550 32953550 1 + G A rs11571769 32953554 + 32953534 32953574 41 GTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGG GTTGGAAATTAGGAAGACCATGGAATCTGCTGAACAAAAGG < 41bp 1 0.261285784416878 Functional Loss -0.738714215583122 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32953554 chr13:32953550 nonsynonymous SNV 0.942 4 17 hPsi_associated_SNPs_172 7 Benign Breast-ovarian cancer, familial 2 RCV000114009.5
8 chr13 32953550 32953550 1 + G A rs11571769 32953554 + 32953534 32953574 41 GTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGG GTTGGAAATTAGGAAGACCATGGAATCTGCTGAACAAAAGG < 41bp 1 0.261285784416878 Functional Loss -0.738714215583122 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32953554 chr13:32953550 nonsynonymous SNV 0.942 4 17 hPsi_associated_SNPs_172 7 Benign not specified RCV000120367.5
9 chr13 32953550 32953550 1 + G A rs11571769 32953554 + 32953534 32953574 41 GTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGG GTTGGAAATTAGGAAGACCATGGAATCTGCTGAACAAAAGG < 41bp 1 0.261285784416878 Functional Loss -0.738714215583122 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32953554 chr13:32953550 nonsynonymous SNV 0.942 4 17 hPsi_associated_SNPs_172 7 Benign Hereditary cancer-predisposing syndrome RCV000128883.4
10 chr13 32953550 32953550 1 + G A rs11571769 32953554 + 32953534 32953574 41 GTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGG GTTGGAAATTAGGAAGACCATGGAATCTGCTGAACAAAAGG < 41bp 1 0.261285784416878 Functional Loss -0.738714215583122 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32953554 chr13:32953550 nonsynonymous SNV 0.942 4 17 hPsi_associated_SNPs_172 7 Likely benign Fanconi anemia RCV000322663.1
11 chr13 32953550 32953550 1 + G A rs11571769 32953554 + 32953534 32953574 41 GTTGGAAATTAGGAAGGCCATGGAATCTGCTGAACAAAAGG GTTGGAAATTAGGAAGACCATGGAATCTGCTGAACAAAAGG < 41bp 1 0.261285784416878 Functional Loss -0.738714215583122 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32953554 chr13:32953550 nonsynonymous SNV 0.942 4 17 hPsi_associated_SNPs_172 7 Benign Familial cancer of breast RCV000476344.1
12 chr17 14110968 14110968 1 + G C rs75823746 14110951 + 14110931 14110971 41 GCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGGTCC GCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGCTCC < 41bp 1 0.387638213899094 Functional Loss -0.612361786100906 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14110951 chr17:14110968 . . 0 38 hPsi_associated_SNPs_191 2 Likely benign Leigh syndrome RCV000307272.1
13 chr17 14110968 14110968 1 + G C rs75823746 14110951 + 14110931 14110971 41 GCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGGTCC GCCTCATGATCTGCTGTCTGTAGTTCTGTGAGCTCAGCTCC < 41bp 1 0.387638213899094 Functional Loss -0.612361786100906 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14110951 chr17:14110968 . . 0 38 hPsi_associated_SNPs_191 2 Likely benign Cytochrome-c oxidase deficiency RCV000371382.1
14 chr17 66528427 66528427 1 + G T rs201999343 66528408 + 66528388 66528428 41 TGATTTGATCTTTGTTTAAATGCCAAAATGTACTTAAATGA TGATTTGATCTTTGTTTAAATGCCAAAATGTACTTAAATTA < 41bp 1 0.0714627255797945 Functional Loss -0.928537274420206 25219674;GSE60047;Ψ-seq;HEK293;Control|26075521;GSE63655;CeU-Seq;HEK293T;hydrogen peroxide PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66528408 chr17:66528427 . . 0 40 hPsi_associated_SNPs_198 2 Likely benign Acrodysostosis RCV000295909.1
15 chr17 66528427 66528427 1 + G T rs201999343 66528408 + 66528388 66528428 41 TGATTTGATCTTTGTTTAAATGCCAAAATGTACTTAAATGA TGATTTGATCTTTGTTTAAATGCCAAAATGTACTTAAATTA < 41bp 1 0.0714627255797945 Functional Loss -0.928537274420206 25219674;GSE60047;Ψ-seq;HEK293;Control|26075521;GSE63655;CeU-Seq;HEK293T;hydrogen peroxide PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66528408 chr17:66528427 . . 0 40 hPsi_associated_SNPs_198 2 Likely benign Carney complex RCV000350781.1
16 chr19 10942108 10942108 1 + C T rs78160240 10942127 + 10942107 10942147 41 GCGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATAT GTGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATAT < 41bp 1 0.223246906143059 Functional Loss -0.776753093856941 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942127 chr19:10942108 . . 0 2 hPsi_associated_SNPs_207 2 Benign Charcot-Marie-Tooth, Intermediate RCV000330822.1
17 chr19 10942108 10942108 1 + C T rs78160240 10942127 + 10942107 10942147 41 GCGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATAT GTGCCTACATCCCCAGGCCTTGCTGGGGTGCAGGGGTATAT < 41bp 1 0.223246906143059 Functional Loss -0.776753093856941 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942127 chr19:10942108 . . 0 2 hPsi_associated_SNPs_207 2 Benign Centronuclear Myopathy, Dominant RCV000369125.1
18 chr19 39998147 39998147 1 + C T rs191149379 39998129 + 39998109 39998149 41 TGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCC TGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTTCC < 41bp 1 0.110068739623098 Functional Loss -0.889931260376902 26075521;GSE63655;CeU-Seq;HEK293T;Control DLL3 ENSG00000090932 CDS Human protein_coding chr19:39998129 chr19:39998147 nonsynonymous SNV 0.003 1 39 hPsi_associated_SNPs_217 3 Likely benign not specified RCV000244010.1
19 chr19 39998147 39998147 1 + C T rs191149379 39998129 + 39998109 39998149 41 TGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCC TGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTTCC < 41bp 1 0.110068739623098 Functional Loss -0.889931260376902 26075521;GSE63655;CeU-Seq;HEK293T;Control DLL3 ENSG00000090932 CDS Human protein_coding chr19:39998129 chr19:39998147 nonsynonymous SNV 0.003 1 39 hPsi_associated_SNPs_217 3 Likely benign Jarcho-Levin syndrome RCV000285204.1
20 chr19 39998147 39998147 1 + C T rs191149379 39998129 + 39998109 39998149 41 TGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTCCC TGCGCTCTTGCTGGTCCACGTGCGCCGCCGTGGCCACTTCC < 41bp 1 0.110068739623098 Functional Loss -0.889931260376902 26075521;GSE63655;CeU-Seq;HEK293T;Control DLL3 ENSG00000090932 CDS Human protein_coding chr19:39998129 chr19:39998147 nonsynonymous SNV 0.003 1 39 hPsi_associated_SNPs_217 3 Likely benign Syndactyly RCV000342498.1
21 chr19 40883933 40883933 1 + G A rs4819 40883947 + 40883927 40883967 41 GACGGCGGGCACCTCGCTGCTGGTGACGCAGAATGGGAGGG GACGGCAGGCACCTCGCTGCTGGTGACGCAGAATGGGAGGG < 41bp 1 0.0552986122236548 Functional Loss -0.944701387776345 25219674;GSE60047;Ψ-seq;HEK293;Control|26075521;GSE63655;CeU-Seq;HEK293T;hydrogen peroxide PLD3 ENSG00000105223 CDS Human protein_coding chr19:40883947 chr19:40883933 synonymous SNV . 0 7 hPsi_associated_SNPs_218 1 Likely benign not specified RCV000454418.1
22 chr22 24129240 24129240 1 + C T rs11090285 24129258 + 24129238 24129278 41 GGCCCGGTCCGCATTTCGCCTTCCGGCTTCGGTTTCCCTCG GGTCCGGTCCGCATTTCGCCTTCCGGCTTCGGTTTCCCTCG < 41bp 1 0.220913964616683 Functional Loss -0.779086035383317 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock SMARCB1 ENSG00000099956 UTR5 Human protein_coding chr22:24129258 chr22:24129240 . . 0 3 hPsi_associated_SNPs_241 3 Benign Schwannomatosis RCV000263350.1
23 chr22 24129240 24129240 1 + C T rs11090285 24129258 + 24129238 24129278 41 GGCCCGGTCCGCATTTCGCCTTCCGGCTTCGGTTTCCCTCG GGTCCGGTCCGCATTTCGCCTTCCGGCTTCGGTTTCCCTCG < 41bp 1 0.220913964616683 Functional Loss -0.779086035383317 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock SMARCB1 ENSG00000099956 UTR5 Human protein_coding chr22:24129258 chr22:24129240 . . 0 3 hPsi_associated_SNPs_241 3 Benign Rhabdoid tumor RCV000302245.1
24 chr22 24129240 24129240 1 + C T rs11090285 24129258 + 24129238 24129278 41 GGCCCGGTCCGCATTTCGCCTTCCGGCTTCGGTTTCCCTCG GGTCCGGTCCGCATTTCGCCTTCCGGCTTCGGTTTCCCTCG < 41bp 1 0.220913964616683 Functional Loss -0.779086035383317 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock SMARCB1 ENSG00000099956 UTR5 Human protein_coding chr22:24129258 chr22:24129240 . . 0 3 hPsi_associated_SNPs_241 3 Benign Coffin-Siris syndrome RCV000355858.1
25 chrX 19373556 19373556 1 + G A rs138237215 19373557 + 19373537 19373577 41 ATCGCTATGGAATGGGAACGTCTGTTGAGAGAGCGGCAGCC ATCGCTATGGAATGGGAACATCTGTTGAGAGAGCGGCAGCC < 41bp 1 0.178743475020819 Functional Loss -0.821256524979181 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock PDHA1 ENSG00000131828 CDS Human protein_coding chrX:19373557 chrX:19373556 synonymous SNV . 0 20 hPsi_associated_SNPs_248 1 Likely benign not specified RCV000437837.1
26 chr1 981165 981165 1 + G A COAD 981180 + 981160 981200 41 ATGACGGGGCTGTGCTCGTGTAAGCCCGGGGTGGCTGGACC ATGACAGGGCTGTGCTCGTGTAAGCCCGGGGTGGCTGGACC < 41bp 1 0.383508319517693 Functional Loss -0.616491680482307 25219674;GSE60047;Ψ-seq;HEK293;Control|26075521;GSE63655;CeU-Seq;HEK293T;hydrogen peroxide AGRN ENSG00000188157 CDS Human protein_coding chr1:981180 chr1:981165 synonymous SNV . 0 6 hPsi_associated_SNPs_423 1 Likely benign not specified RCV000252551.1
27 chr6 24503567 24503567 1 + G A THYM 24503574 + 24503554 24503594 41 TCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACAC TCTGAGGAAGCCCACCGTGTTTACGGAGACATTATCCACAC < 41bp 1 0.180427838824629 Functional Loss -0.819572161175371 NA| ALDH5A1 ENSG00000112294 CDS Human protein_coding chr6:24503574 chr6:24503567 nonsynonymous SNV 0.693 4 14 hPsi_associated_SNPs_887 1 Uncertain significance Succinate-semialdehyde dehydrogenase deficiency RCV000321024.1
28 chr20 13789519 13789519 1 + G T UCEC 13789530 + 13789510 13789550 41 ACTATCCTGGAATGTTTGAATTGATGGAAGATTTACAAGGT ACTATCCTGTAATGTTTGAATTGATGGAAGATTTACAAGGT < 41bp 1 0.0706931172401155 Functional Loss -0.929306882759884 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock NDUFAF5 ENSG00000101247 CDS Human protein_coding chr20:13789530 chr20:13789519 nonsynonymous SNV 1.000 3 10 hPsi_associated_SNPs_920 3 Pathogenic Leigh syndrome RCV000412492.1
29 chr20 13789519 13789519 1 + G T UCEC 13789530 + 13789510 13789550 41 ACTATCCTGGAATGTTTGAATTGATGGAAGATTTACAAGGT ACTATCCTGTAATGTTTGAATTGATGGAAGATTTACAAGGT < 41bp 1 0.0706931172401155 Functional Loss -0.929306882759884 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock NDUFAF5 ENSG00000101247 CDS Human protein_coding chr20:13789530 chr20:13789519 nonsynonymous SNV 1.000 3 10 hPsi_associated_SNPs_920 3 Likely pathogenic not provided RCV000431261.1
30 chr20 13789519 13789519 1 + G T UCEC 13789530 + 13789510 13789550 41 ACTATCCTGGAATGTTTGAATTGATGGAAGATTTACAAGGT ACTATCCTGTAATGTTTGAATTGATGGAAGATTTACAAGGT < 41bp 1 0.0706931172401155 Functional Loss -0.929306882759884 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock NDUFAF5 ENSG00000101247 CDS Human protein_coding chr20:13789530 chr20:13789519 nonsynonymous SNV 1.000 3 10 hPsi_associated_SNPs_920 3 Likely pathogenic Mitochondrial complex I deficiency RCV000477759.1
31 chr5 70945074 70945074 1 + C T UCEC 70945064 + 70945044 70945084 41 GAGCCGGAAACTATGGGATGTGTGGCAGAGCATATAGGTAG GAGCCGGAAACTATGGGATGTGTGGCAGAGTATATAGGTAG < 41bp 1 0.0451187070883562 Functional Loss -0.954881292911644 26075521;GSE63655;CeU-Seq;HEK293T;Heat_shock MCCC2 ENSG00000131844 CDS Human protein_coding chr5:70945064 chr5:70945074 nonsynonymous SNV 0.774 4 31 hPsi_associated_SNPs_1017 1 Uncertain significance not specified RCV000153475.3
32 chr17 39973401 39973401 1 + G A UCEC 39973390 + 39973370 39973410 41 GGACCGAGGCCTCATGGGCATGTGTGTCAACGAGCGGCGAC GGACCGAGGCCTCATGGGCATGTGTGTCAACAAGCGGCGAC < 41bp 1 0.387482211582227 Functional Loss -0.612517788417773 26075521;GSE63655;CeU-Seq;HEK293T;Control FKBP10 ENSG00000141756 CDS Human protein_coding chr17:39973390 chr17:39973401 nonsynonymous SNV 1.000 4 32 hPsi_associated_SNPs_1098 1 Pathogenic Bruck syndrome 1 RCV000034360.7
33 chr1 109419742 109419742 1 + C T rs564045797 109419742 + 109419722 109419762 41 GGAGCAGGGGGCGCGCCGGCCTCCTGCGGTGCCCCTGCCTT GGAGCAGGGGGCGCGCCGGCTTCCTGCGGTGCCCCTGCCTT Direct Gain 0 0.903058490361338 Functional Gain 0.903058490361338 - GPSM2 ENSG00000121957 UTR5 Human protein_coding chr1:109419742 chr1:109419742 . . 0 21 hPsi_associated_SNPs_1155 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000388558.1
34 chr1 227174408 227174408 1 + C T rs56043893 227174408 + 227174388 227174428 41 ATGTTCGAGGAGGCCTACAGCAACTACTGCAAGAGGCAGGC ATGTTCGAGGAGGCCTACAGTAACTACTGCAAGAGGCAGGC Direct Gain 0 0.858288176766178 Functional Gain 0.858288176766178 - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174408 chr1:227174408 synonymous SNV . 0 21 hPsi_associated_SNPs_1162 3 Benign not specified RCV000198439.1
35 chr1 227174408 227174408 1 + C T rs56043893 227174408 + 227174388 227174428 41 ATGTTCGAGGAGGCCTACAGCAACTACTGCAAGAGGCAGGC ATGTTCGAGGAGGCCTACAGTAACTACTGCAAGAGGCAGGC Direct Gain 0 0.858288176766178 Functional Gain 0.858288176766178 - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174408 chr1:227174408 synonymous SNV . 0 21 hPsi_associated_SNPs_1162 3 Likely benign Spinocerebellar Ataxia, Recessive RCV000279570.1
36 chr1 227174408 227174408 1 + C T rs56043893 227174408 + 227174388 227174428 41 ATGTTCGAGGAGGCCTACAGCAACTACTGCAAGAGGCAGGC ATGTTCGAGGAGGCCTACAGTAACTACTGCAAGAGGCAGGC Direct Gain 0 0.858288176766178 Functional Gain 0.858288176766178 - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174408 chr1:227174408 synonymous SNV . 0 21 hPsi_associated_SNPs_1162 3 Likely benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type RCV000372202.1
37 chr1 237955407 237955407 1 + C T rs57360419 237955407 + 237955387 237955427 41 TTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGA TTAAATGCTTTGAATCAGGTTTCCACTTCTTCTGTGGTTGA Direct Gain 0 0.923043810456383 Functional Gain 0.923043810456383 - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237955407 chr1:237955407 synonymous SNV . 0 21 hPsi_associated_SNPs_1165 3 Benign not specified RCV000036680.4
38 chr1 237955407 237955407 1 + C T rs57360419 237955407 + 237955387 237955427 41 TTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGA TTAAATGCTTTGAATCAGGTTTCCACTTCTTCTGTGGTTGA Direct Gain 0 0.923043810456383 Functional Gain 0.923043810456383 - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237955407 chr1:237955407 synonymous SNV . 0 21 hPsi_associated_SNPs_1165 3 Benign Catecholaminergic polymorphic ventricular tachycardia RCV000234483.2
39 chr1 237955407 237955407 1 + C T rs57360419 237955407 + 237955387 237955427 41 TTAAATGCTTTGAATCAGGTCTCCACTTCTTCTGTGGTTGA TTAAATGCTTTGAATCAGGTTTCCACTTCTTCTGTGGTTGA Direct Gain 0 0.923043810456383 Functional Gain 0.923043810456383 - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237955407 chr1:237955407 synonymous SNV . 0 21 hPsi_associated_SNPs_1165 3 Benign Cardiovascular phenotype RCV000243868.1
40 chr1 237996275 237996275 1 + C T rs76286925 237996275 + 237996255 237996295 41 TTCTCGAGCTACGAGACCTTCACAGAGACACGTGGCAGCCA TTCTCGAGCTACGAGACCTTTACAGAGACACGTGGCAGCCA Direct Gain 0 0.8744366752595 Functional Gain 0.8744366752595 - RYR2 ENSG00000198626 UTR3 Human protein_coding chr1:237996275 chr1:237996275 . . 0 21 hPsi_associated_SNPs_1166 2 Likely benign Cardiomyopathy, ARVC RCV000302735.1
41 chr1 237996275 237996275 1 + C T rs76286925 237996275 + 237996255 237996295 41 TTCTCGAGCTACGAGACCTTCACAGAGACACGTGGCAGCCA TTCTCGAGCTACGAGACCTTTACAGAGACACGTGGCAGCCA Direct Gain 0 0.8744366752595 Functional Gain 0.8744366752595 - RYR2 ENSG00000198626 UTR3 Human protein_coding chr1:237996275 chr1:237996275 . . 0 21 hPsi_associated_SNPs_1166 2 Likely benign Catecholaminergic polymorphic ventricular tachycardia RCV000359838.1
42 chr2 179404353 179404353 1 + C T rs368487246 179404353 + 179404333 179404373 41 GGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTC GGAGGTCTCCAGCTGACCCTTACAGAGCGGACTTGGATGTC Direct Gain 0 0.862000807270749 Functional Gain 0.862000807270749 - TTN ENSG00000155657 CDS Human protein_coding chr2:179404353 chr2:179404353 synonymous SNV . 0 21 hPsi_associated_SNPs_1181 3 Benign not specified RCV000040870.4
43 chr2 179404353 179404353 1 + C T rs368487246 179404353 + 179404333 179404373 41 GGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTC GGAGGTCTCCAGCTGACCCTTACAGAGCGGACTTGGATGTC Direct Gain 0 0.862000807270749 Functional Gain 0.862000807270749 - TTN ENSG00000155657 CDS Human protein_coding chr2:179404353 chr2:179404353 synonymous SNV . 0 21 hPsi_associated_SNPs_1181 3 Benign Dilated cardiomyopathy 1G RCV000468803.1
44 chr2 179404353 179404353 1 + C T rs368487246 179404353 + 179404333 179404373 41 GGAGGTCTCCAGCTGACCCTCACAGAGCGGACTTGGATGTC GGAGGTCTCCAGCTGACCCTTACAGAGCGGACTTGGATGTC Direct Gain 0 0.862000807270749 Functional Gain 0.862000807270749 - TTN ENSG00000155657 CDS Human protein_coding chr2:179404353 chr2:179404353 synonymous SNV . 0 21 hPsi_associated_SNPs_1181 3 Benign Limb-girdle muscular dystrophy, type 2J RCV000468803.1
45 chr2 207630338 207630338 1 + C T rs3762567 207630338 + 207630318 207630358 41 CAGCTTCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAG CAGCTTCTCGGGGAAGCTGTTATGGCTGCTCCTGTACGTAG Direct Gain 0 0.840523506469275 Functional Gain 0.840523506469275 - FASTKD2 ENSG00000118246 UTR5 Human protein_coding chr2:207630338 chr2:207630338 . . 0 21 hPsi_associated_SNPs_1187 1 Likely benign Cytochrome-c oxidase deficiency RCV000283058.1
46 chr4 1894545 1894545 1 + C T rs184985997 1894545 + 1894525 1894565 41 ACCTTGTGATCCGCTCGCCTCAGCCTCCCAAAGTGCTGGGA ACCTTGTGATCCGCTCGCCTTAGCCTCCCAAAGTGCTGGGA Direct Gain 0 0.852142400742024 Functional Gain 0.852142400742024 - NSD2 ENSG00000109685 UTR5 Human protein_coding chr4:1894545 chr4:1894545 . . 0 21 hPsi_associated_SNPs_1217 1 Likely benign 4p partial monosomy syndrome RCV000322602.1
47 chr4 1976691 1976691 1 + C T rs138946638 1976691 + 1976671 1976711 41 AAGTGGACAGTGAATGGGGACACTCGTGTGGGCCTGTTTGC AAGTGGACAGTGAATGGGGATACTCGTGTGGGCCTGTTTGC Direct Gain 0 0.849247388925018 Functional Gain 0.849247388925018 - NSD2 ENSG00000109685 CDS Human protein_coding chr4:1976691 chr4:1976691 synonymous SNV . 0 21 hPsi_associated_SNPs_1218 1 Likely benign 4p partial monosomy syndrome RCV000341332.1
48 chr4 39247014 39247014 1 + C T rs200266424 39247014 + 39246994 39247034 41 AAGTTGGTGATCTTCTGCCCCACGTTTCTTCTCCTAAGATC AAGTTGGTGATCTTCTGCCCTACGTTTCTTCTCCTAAGATC Direct Gain 0 0.844140144450079 Functional Gain 0.844140144450079 - WDR19 ENSG00000157796 CDS Human protein_coding chr4:39247014 chr4:39247014 nonsynonymous SNV 0.987 1 21 hPsi_associated_SNPs_1222 1 Likely benign not specified RCV000391331.1
49 chr5 149361966 149361966 1 + C T rs1046710 149361966 + 149361946 149361986 41 GGCACAGTCTCATCAGAAGTCTAATACCTGGGCAGGTTTAT GGCACAGTCTCATCAGAAGTTTAATACCTGGGCAGGTTTAT Direct Gain 0 0.946357623522154 Functional Gain 0.946357623522154 - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361966 chr5:149361966 . . 0 21 hPsi_associated_SNPs_1240 5 Likely benign Diastrophic dysplasia RCV000273206.1
50 chr5 149361966 149361966 1 + C T rs1046710 149361966 + 149361946 149361986 41 GGCACAGTCTCATCAGAAGTCTAATACCTGGGCAGGTTTAT GGCACAGTCTCATCAGAAGTTTAATACCTGGGCAGGTTTAT Direct Gain 0 0.946357623522154 Functional Gain 0.946357623522154 - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361966 chr5:149361966 . . 0 21 hPsi_associated_SNPs_1240 5 Likely benign Osteochondrodysplasia RCV000276577.1
51 chr5 149361966 149361966 1 + C T rs1046710 149361966 + 149361946 149361986 41 GGCACAGTCTCATCAGAAGTCTAATACCTGGGCAGGTTTAT GGCACAGTCTCATCAGAAGTTTAATACCTGGGCAGGTTTAT Direct Gain 0 0.946357623522154 Functional Gain 0.946357623522154 - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361966 chr5:149361966 . . 0 21 hPsi_associated_SNPs_1240 5 Likely benign Atelosteogenesis RCV000307229.1
52 chr5 149361966 149361966 1 + C T rs1046710 149361966 + 149361946 149361986 41 GGCACAGTCTCATCAGAAGTCTAATACCTGGGCAGGTTTAT GGCACAGTCTCATCAGAAGTTTAATACCTGGGCAGGTTTAT Direct Gain 0 0.946357623522154 Functional Gain 0.946357623522154 - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361966 chr5:149361966 . . 0 21 hPsi_associated_SNPs_1240 5 Likely benign Achondrogenesis RCV000364195.1
53 chr5 149361966 149361966 1 + C T rs1046710 149361966 + 149361946 149361986 41 GGCACAGTCTCATCAGAAGTCTAATACCTGGGCAGGTTTAT GGCACAGTCTCATCAGAAGTTTAATACCTGGGCAGGTTTAT Direct Gain 0 0.946357623522154 Functional Gain 0.946357623522154 - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361966 chr5:149361966 . . 0 21 hPsi_associated_SNPs_1240 5 Likely benign Multiple epiphyseal dysplasia 4 RCV000365658.1
54 chr6 24535455 24535455 1 + C T rs368136060 24535455 + 24535435 24535475 41 ACCTAGGATTTAACATCCCTCATTGAGCCACTGGGAAGCTA ACCTAGGATTTAACATCCCTTATTGAGCCACTGGGAAGCTA Direct Gain 0 0.916686883859521 Functional Gain 0.916686883859521 - ALDH5A1 ENSG00000112294 UTR3 Human protein_coding chr6:24535455 chr6:24535455 . . 0 21 hPsi_associated_SNPs_1243 1 Uncertain significance Succinate-semialdehyde dehydrogenase deficiency RCV000340769.1
55 chr6 81053916 81053916 1 + G T rs4706116 81053916 + 81053896 81053936 41 GTTTTTATTGGAGGTGGGGTGTCACTATGTTGGCTCAGCTG GTTTTTATTGGAGGTGGGGTTTCACTATGTTGGCTCAGCTG Direct Gain 0 0.86287624284193 Functional Gain 0.86287624284193 - BCKDHB ENSG00000083123 UTR3 Human protein_coding chr6:81053916 chr6:81053916 . . 0 21 hPsi_associated_SNPs_1253 1 Benign Maple syrup urine disease RCV000314077.1
56 chr6 81053961 81053961 1 + A T rs113404985 81053961 + 81053941 81053981 41 CAAATTCCTGACCTCAAGTGATCCACCTGCCTTAGCCTCCC CAAATTCCTGACCTCAAGTGTTCCACCTGCCTTAGCCTCCC Direct Gain 0 0.852455847417679 Functional Gain 0.852455847417679 - BCKDHB ENSG00000083123 UTR3 Human protein_coding chr6:81053961 chr6:81053961 . . 0 21 hPsi_associated_SNPs_1254 1 Likely benign Maple syrup urine disease RCV000363971.1
57 chr6 133849868 133849868 1 + C T rs142721902 133849868 + 133849848 133849888 41 CTCCTAACCACACAGCACAACATGCCCTTCTGGAGGATATC CTCCTAACCACACAGCACAATATGCCCTTCTGGAGGATATC Direct Gain 0 0.867080299048255 Functional Gain 0.867080299048255 - EYA4 ENSG00000112319 CDS Human protein_coding chr6:133849868 chr6:133849868 synonymous SNV . 0 21 hPsi_associated_SNPs_1256 4 Benign Cardiomyopathy RCV000029691.1
58 chr6 133849868 133849868 1 + C T rs142721902 133849868 + 133849848 133849888 41 CTCCTAACCACACAGCACAACATGCCCTTCTGGAGGATATC CTCCTAACCACACAGCACAATATGCCCTTCTGGAGGATATC Direct Gain 0 0.867080299048255 Functional Gain 0.867080299048255 - EYA4 ENSG00000112319 CDS Human protein_coding chr6:133849868 chr6:133849868 synonymous SNV . 0 21 hPsi_associated_SNPs_1256 4 Benign not specified RCV000037879.3
59 chr6 133849868 133849868 1 + C T rs142721902 133849868 + 133849848 133849888 41 CTCCTAACCACACAGCACAACATGCCCTTCTGGAGGATATC CTCCTAACCACACAGCACAATATGCCCTTCTGGAGGATATC Direct Gain 0 0.867080299048255 Functional Gain 0.867080299048255 - EYA4 ENSG00000112319 CDS Human protein_coding chr6:133849868 chr6:133849868 synonymous SNV . 0 21 hPsi_associated_SNPs_1256 4 Benign Dilated cardiomyopathy 1J RCV000204942.3
60 chr6 133849868 133849868 1 + C T rs142721902 133849868 + 133849848 133849888 41 CTCCTAACCACACAGCACAACATGCCCTTCTGGAGGATATC CTCCTAACCACACAGCACAATATGCCCTTCTGGAGGATATC Direct Gain 0 0.867080299048255 Functional Gain 0.867080299048255 - EYA4 ENSG00000112319 CDS Human protein_coding chr6:133849868 chr6:133849868 synonymous SNV . 0 21 hPsi_associated_SNPs_1256 4 Benign Cardiovascular phenotype RCV000252121.1
61 chr8 68026112 68026112 1 + C T rs200874913 68026112 + 68026092 68026132 41 AAATCGGTAAGGGTTTCTGGCATCTTTTAATGTTTAATCTT AAATCGGTAAGGGTTTCTGGTATCTTTTAATGTTTAATCTT Direct Gain 0 0.889913667759448 Functional Gain 0.889913667759448 - CSPP1 ENSG00000104218 UTR3 Human protein_coding chr8:68026112 chr8:68026112 . . 0 21 hPsi_associated_SNPs_1285 1 Likely benign not specified RCV000439242.1
62 chr10 99359406 99359406 1 + C T rs75929214 99359406 + 99359386 99359426 41 GGACCTGGGGCGGCTGCCCTCTCCTGCTTTTCTCTGCGCCC GGACCTGGGGCGGCTGCCCTTTCCTGCTTTTCTCTGCGCCC Direct Gain 0 0.853176603333534 Functional Gain 0.853176603333534 - HOGA1 ENSG00000155252;ENSG00000241935;ENSG00000249967 intronic Human other chr10:99359406 chr10:99359406 . . 0 21 hPsi_associated_SNPs_1319 1 Uncertain significance Primary hyperoxaluria, type III RCV000186466.1
63 chr11 103187327 103187327 1 + C T rs144624858 103187327 + 103187307 103187347 41 GATCTTCGGGCTGGGTACAACATTATTGACAGACTTTTTGA GATCTTCGGGCTGGGTACAATATTATTGACAGACTTTTTGA Direct Gain 0 0.841262720465372 Functional Gain 0.841262720465372 - DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103187327 chr11:103187327 synonymous SNV . 0 21 hPsi_associated_SNPs_1352 2 Uncertain significance Short Rib Polydactyly Syndrome RCV000277569.1
64 chr11 103187327 103187327 1 + C T rs144624858 103187327 + 103187307 103187347 41 GATCTTCGGGCTGGGTACAACATTATTGACAGACTTTTTGA GATCTTCGGGCTGGGTACAATATTATTGACAGACTTTTTGA Direct Gain 0 0.841262720465372 Functional Gain 0.841262720465372 - DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103187327 chr11:103187327 synonymous SNV . 0 21 hPsi_associated_SNPs_1352 2 Uncertain significance Jeune thoracic dystrophy RCV000369823.1
65 chr12 32897557 32897557 1 + G T rs11052213 32897557 + 32897537 32897577 41 CTCGGGAGGGTGAGGCAGGAGAATTGCTTGACCCTGGGAGG CTCGGGAGGGTGAGGCAGGATAATTGCTTGACCCTGGGAGG Direct Gain 0 0.851913906811487 Functional Gain 0.851913906811487 - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897557 chr12:32897557 . . 0 21 hPsi_associated_SNPs_1367 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000293050.1
66 chr12 32897557 32897557 1 + G T rs11052213 32897557 + 32897537 32897577 41 CTCGGGAGGGTGAGGCAGGAGAATTGCTTGACCCTGGGAGG CTCGGGAGGGTGAGGCAGGATAATTGCTTGACCCTGGGAGG Direct Gain 0 0.851913906811487 Functional Gain 0.851913906811487 - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897557 chr12:32897557 . . 0 21 hPsi_associated_SNPs_1367 3 Benign Lethal Encephalopathy RCV000326126.1
67 chr12 32897557 32897557 1 + G T rs11052213 32897557 + 32897537 32897577 41 CTCGGGAGGGTGAGGCAGGAGAATTGCTTGACCCTGGGAGG CTCGGGAGGGTGAGGCAGGATAATTGCTTGACCCTGGGAGG Direct Gain 0 0.851913906811487 Functional Gain 0.851913906811487 - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897557 chr12:32897557 . . 0 21 hPsi_associated_SNPs_1367 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000391164.1
68 chr13 111147696 111147696 1 + C T rs115373326 111147696 + 111147676 111147716 41 AACTCTTCCACAGGTTCTGACATCCACGGAGACCCAGGCTT AACTCTTCCACAGGTTCTGATATCCACGGAGACCCAGGCTT Direct Gain 0 0.91966123166935 Functional Gain 0.91966123166935 - COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111147696 chr13:111147696 synonymous SNV . 0 21 hPsi_associated_SNPs_1392 1 Likely benign Porencephaly RCV000308762.1
69 chr14 70490034 70490034 1 + C T rs11846426 70490034 + 70490014 70490054 41 AAGCGGGAGATGAAGCCCTTCAAGCGCTACGTGAAGAAGAA AAGCGGGAGATGAAGCCCTTTAAGCGCTACGTGAAGAAGAA Direct Gain 0 0.880456372502077 Functional Gain 0.880456372502077 - SMOC1 ENSG00000198732 CDS Human protein_coding chr14:70490034 chr14:70490034 synonymous SNV . 0 21 hPsi_associated_SNPs_1406 1 Benign not specified RCV000244730.1
70 chr15 73029971 73029971 1 + G T rs144706746 73029971 + 73029951 73029991 41 ATAGGGTTTTCTTGGGCGAGGATGTGCTGGATTAGGAAAGG ATAGGGTTTTCTTGGGCGAGTATGTGCTGGATTAGGAAAGG Direct Gain 0 0.889227157872877 Functional Gain 0.889227157872877 - BBS4 ENSG00000140463 UTR3 Human protein_coding chr15:73029971 chr15:73029971 . . 0 21 hPsi_associated_SNPs_1427 1 Uncertain significance Bardet-Biedl syndrome RCV000281156.1
71 chr16 67654677 67654677 1 + C T rs143837268 67654677 + 67654657 67654697 41 AGTTTGTGCAGTTATGCCAGCAGGGACACATACAAGCTGAA AGTTTGTGCAGTTATGCCAGTAGGGACACATACAAGCTGAA Direct Gain 0 0.896960092933765 Functional Gain 0.896960092933765 - CTCF ENSG00000102974 CDS Human protein_coding chr16:67654677 chr16:67654677 synonymous SNV . 0 21 hPsi_associated_SNPs_1477 1 Likely benign not specified RCV000116843.2
72 chr17 14095519 14095519 1 + C T rs370260574 14095519 + 14095499 14095539 41 GTCATGGGCTGGACAGCGGCCACGGGCAGCCTCGATGCTGG GTCATGGGCTGGACAGCGGCTACGGGCAGCCTCGATGCTGG Direct Gain 0 0.918343477484917 Functional Gain 0.918343477484917 - COX10 ENSG00000006695 CDS Human protein_coding chr17:14095519 chr17:14095519 synonymous SNV . 0 21 hPsi_associated_SNPs_1509 2 Uncertain significance Cytochrome-c oxidase deficiency RCV000349796.1
73 chr17 14095519 14095519 1 + C T rs370260574 14095519 + 14095499 14095539 41 GTCATGGGCTGGACAGCGGCCACGGGCAGCCTCGATGCTGG GTCATGGGCTGGACAGCGGCTACGGGCAGCCTCGATGCTGG Direct Gain 0 0.918343477484917 Functional Gain 0.918343477484917 - COX10 ENSG00000006695 CDS Human protein_coding chr17:14095519 chr17:14095519 synonymous SNV . 0 21 hPsi_associated_SNPs_1509 2 Uncertain significance Leigh syndrome RCV000398956.1
74 chr17 14111631 14111631 1 + C T rs75165393 14111631 + 14111611 14111651 41 TTACCTGCAGCTTTTTAGTCCTTTGTGCTCCCACGGGTCTG TTACCTGCAGCTTTTTAGTCTTTTGTGCTCCCACGGGTCTG Direct Gain 0 0.920274889497312 Functional Gain 0.920274889497312 - COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14111631 chr17:14111631 . . 0 21 hPsi_associated_SNPs_1510 2 Likely benign Leigh syndrome RCV000271535.1
75 chr17 14111631 14111631 1 + C T rs75165393 14111631 + 14111611 14111651 41 TTACCTGCAGCTTTTTAGTCCTTTGTGCTCCCACGGGTCTG TTACCTGCAGCTTTTTAGTCTTTTGTGCTCCCACGGGTCTG Direct Gain 0 0.920274889497312 Functional Gain 0.920274889497312 - COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14111631 chr17:14111631 . . 0 21 hPsi_associated_SNPs_1510 2 Likely benign Cytochrome-c oxidase deficiency RCV000328872.1
76 chr17 19579177 19579177 1 + G T rs540671507 19579177 + 19579157 19579197 41 GACTAAATACAAACTGCGGGGTTGTAAGGGAGTCTCAGAAC GACTAAATACAAACTGCGGGTTTGTAAGGGAGTCTCAGAAC Direct Gain 0 0.905740637203746 Functional Gain 0.905740637203746 - ALDH3A2 ENSG00000072210 UTR3 Human protein_coding chr17:19579177 chr17:19579177 . . 0 21 hPsi_associated_SNPs_1527 1 Uncertain significance Sjögren-Larsson syndrome RCV000390935.1
77 chr17 37863262 37863262 1 + G T rs546886845 37863262 + 37863242 37863282 41 GTGTGCACCGGCACAGACATGAAGCTGCGGCTCCCTGCCAG GTGTGCACCGGCACAGACATTAAGCTGCGGCTCCCTGCCAG Direct Gain 0 0.864630022315794 Functional Gain 0.864630022315794 - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37863262 chr17:37863262 nonsynonymous SNV 1.000 0 21 hPsi_associated_SNPs_1550 1 not provided not specified RCV000120747.1
78 chr17 37864781 37864781 1 + C T rs527779103 37864781 + 37864761 37864801 41 GGGAGCTGCAGCTTCGAAGCCTCACAGGTGGCCTTCACCGT GGGAGCTGCAGCTTCGAAGCTTCACAGGTGGCCTTCACCGT Direct Gain 0 0.891604730160474 Functional Gain 0.891604730160474 - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37864781 chr17:37864781 nonsynonymous SNV 1.000 4 21 hPsi_associated_SNPs_1551 1 not provided not specified RCV000120760.1
79 chr17 78075606 78075606 1 + C T rs190152638 78075606 + 78075586 78075626 41 GCGAAGGACCCCGGCCACCTCTAGGTTCTCCTCGTCCGCCC GCGAAGGACCCCGGCCACCTTTAGGTTCTCCTCGTCCGCCC Direct Gain 0 0.929907492712841 Functional Gain 0.929907492712841 - GAA ENSG00000171298 UTR5 Human protein_coding chr17:78075606 chr17:78075606 . . 0 21 hPsi_associated_SNPs_1597 1 Likely benign not specified RCV000426206.1
80 chr18 72922898 72922898 1 + C T rs374781125 72922898 + 72922878 72922918 41 CTCGCCCACCCAGTGAATGTCTGCTCTTCACCCCCTTTGCA CTCGCCCACCCAGTGAATGTTTGCTCTTCACCCCCTTTGCA Direct Gain 0 0.91599069569354 Functional Gain 0.91599069569354 - TSHZ1 ENSG00000179981 UTR5 Human protein_coding chr18:72922898 chr18:72922898 . . 0 21 hPsi_associated_SNPs_1628 1 Benign Aural atresia, congenital RCV000261675.1
81 chr19 10908077 10908077 1 + C T rs147668465 10908077 + 10908057 10908097 41 ACGGGGCTCTTCACCCCCGACATGGCCTTTGAAGCCATTGT ACGGGGCTCTTCACCCCCGATATGGCCTTTGAAGCCATTGT Direct Gain 0 0.928620631158796 Functional Gain 0.928620631158796 - DNM2 ENSG00000079805 CDS Human protein_coding chr19:10908077 chr19:10908077 synonymous SNV . 0 21 hPsi_associated_SNPs_1647 1 Benign not specified RCV000429576.1
82 chr19 39191323 39191323 1 + C T rs77307137 39191323 + 39191303 39191343 41 GAGGACTTCCGAGACGGGCTCAAGCTCATGCTGCTCCTGGA GAGGACTTCCGAGACGGGCTTAAGCTCATGCTGCTCCTGGA Direct Gain 0 0.891343058391779 Functional Gain 0.891343058391779 - ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39191323 chr19:39191323 synonymous SNV . 0 21 hPsi_associated_SNPs_1677 1 Benign not specified RCV000243609.1
83 chr20 18488445 18488445 1 + G T rs138178711 18488445 + 18488425 18488465 41 GATGGTGGCAGAGCTTCTCTGAGTCTCTCGCTTCCTCCAGT GATGGTGGCAGAGCTTCTCTTAGTCTCTCGCTTCCTCCAGT Direct Gain 0 0.84502247045131 Functional Gain 0.84502247045131 - SEC23B ENSG00000101310 UTR5 Human protein_coding chr20:18488445 chr20:18488445 . . 0 21 hPsi_associated_SNPs_1710 1 Uncertain significance Congenital dyserythropoietic anemia RCV000349063.1
84 chr20 18488607 18488607 1 + C T rs115614151 18488607 + 18488587 18488627 41 GCAGCTGTGGGTGAGGACGGCTCTAGCTAGGTGAGCGGCTC GCAGCTGTGGGTGAGGACGGTTCTAGCTAGGTGAGCGGCTC Direct Gain 0 0.878800844360608 Functional Gain 0.878800844360608 - SEC23B ENSG00000101310 UTR5 Human protein_coding chr20:18488607 chr20:18488607 . . 0 21 hPsi_associated_SNPs_1711 1 Likely benign Congenital dyserythropoietic anemia RCV000360757.1
85 chr20 44048183 44048183 1 + C T rs574183358 44048183 + 44048163 44048203 41 TGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAG TGAAGGCAGATCGCTTGTTCTACACCAGCTACCACTCCCAG Direct Gain 0 0.895617622961669 Functional Gain 0.895617622961669 - PIGT ENSG00000124155 CDS Human protein_coding chr20:44048183 chr20:44048183 nonsynonymous SNV 1.000 3 21 hPsi_associated_SNPs_1738 2 Uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3 RCV000477894.1
86 chr20 44048183 44048183 1 + C T rs574183358 44048183 + 44048163 44048203 41 TGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCAG TGAAGGCAGATCGCTTGTTCTACACCAGCTACCACTCCCAG Direct Gain 0 0.895617622961669 Functional Gain 0.895617622961669 - PIGT ENSG00000124155 CDS Human protein_coding chr20:44048183 chr20:44048183 nonsynonymous SNV 1.000 3 21 hPsi_associated_SNPs_1738 2 Uncertain significance Paroxysmal nocturnal hemoglobinuria 2 RCV000477894.1
87 chr20 57020626 57020626 1 + C T rs187441988 57020626 + 57020606 57020646 41 GAATTCTTTTGTCATTTTGTCACATTTGCTCTATGGGGGGA GAATTCTTTTGTCATTTTGTTACATTTGCTCTATGGGGGGA Direct Gain 0 0.963261433884151 Functional Gain 0.963261433884151 - VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57020626 chr20:57020626 . . 0 21 hPsi_associated_SNPs_1748 2 Likely benign Spinal Muscular Atrophy, Dominant RCV000338173.1
88 chr20 57020626 57020626 1 + C T rs187441988 57020626 + 57020606 57020646 41 GAATTCTTTTGTCATTTTGTCACATTTGCTCTATGGGGGGA GAATTCTTTTGTCATTTTGTTACATTTGCTCTATGGGGGGA Direct Gain 0 0.963261433884151 Functional Gain 0.963261433884151 - VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57020626 chr20:57020626 . . 0 21 hPsi_associated_SNPs_1748 2 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000391276.1
89 chr20 57024589 57024589 1 + C T rs6015275 57024589 + 57024569 57024609 41 TGTAGCAACAAAAATGTAGCCATTATCTAACTTGCCATAAA TGTAGCAACAAAAATGTAGCTATTATCTAACTTGCCATAAA Direct Gain 0 0.854506062098144 Functional Gain 0.854506062098144 - VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57024589 chr20:57024589 . . 0 21 hPsi_associated_SNPs_1751 2 Benign Spinal Muscular Atrophy, Dominant RCV000264156.1
90 chr20 57024589 57024589 1 + C T rs6015275 57024589 + 57024569 57024609 41 TGTAGCAACAAAAATGTAGCCATTATCTAACTTGCCATAAA TGTAGCAACAAAAATGTAGCTATTATCTAACTTGCCATAAA Direct Gain 0 0.854506062098144 Functional Gain 0.854506062098144 - VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57024589 chr20:57024589 . . 0 21 hPsi_associated_SNPs_1751 2 Benign Amyotrophic Lateral Sclerosis, Dominant RCV000319356.1
91 chr20 57251530 57251530 1 + G T rs1052642 57251530 + 57251510 57251550 41 TCAAGCGGTCCGGGGAATGGGTTTTTGTTTTTCCTTCATTG TCAAGCGGTCCGGGGAATGGTTTTTTGTTTTTCCTTCATTG Direct Gain 0 0.877475943622793 Functional Gain 0.877475943622793 - STX16-NPEPL1 ENSG00000124222 UTR3 Human protein_coding chr20:57251530 chr20:57251530 . . 0 21 hPsi_associated_SNPs_1752 1 Benign Pseudohypoaldosteronism, Type I, Dominant RCV000263427.1
92 chr20 57253246 57253246 1 + C T rs138678203 57253246 + 57253226 57253266 41 TCCACAGTGGCAATACCGGACTTCTGTTCAAGCTTTTTAAA TCCACAGTGGCAATACCGGATTTCTGTTCAAGCTTTTTAAA Direct Gain 0 0.888855189696746 Functional Gain 0.888855189696746 - STX16-NPEPL1 ENSG00000124222 UTR3 Human protein_coding chr20:57253246 chr20:57253246 . . 0 21 hPsi_associated_SNPs_1753 1 Likely benign Pseudohypoaldosteronism, Type I, Dominant RCV000272951.1
93 chr22 21242262 21242262 1 + C T rs375995790 21242262 + 21242242 21242282 41 TAATAGAGTAGGTCTTAAGACATTTTTGCTGTTATAAGGAA TAATAGAGTAGGTCTTAAGATATTTTTGCTGTTATAAGGAA Direct Gain 0 0.931606687894434 Functional Gain 0.931606687894434 - SNAP29 ENSG00000099940 UTR3 Human protein_coding chr22:21242262 chr22:21242262 . . 0 21 hPsi_associated_SNPs_1780 1 Likely benign Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000260517.1
94 chr22 21350054 21350054 1 + C T rs1131176 21350054 + 21350034 21350074 41 GGCACATCTCTGATCCAGGACATGAAGGCATACCTGGAGGG GGCACATCTCTGATCCAGGATATGAAGGCATACCTGGAGGG Direct Gain 0 0.90409427219376 Functional Gain 0.90409427219376 - LZTR1 ENSG00000099949 CDS Human protein_coding chr22:21350054 chr22:21350054 nonsynonymous SNV . 0 21 hPsi_associated_SNPs_1786 1 Benign not specified RCV000421338.1
95 chr22 41325805 41325805 1 + C T rs12168248 41325805 + 41325785 41325825 41 ATAAGCTGTGTGTGATCTTACTCATTCTCAGCCATGCCGCA ATAAGCTGTGTGTGATCTTATTCATTCTCAGCCATGCCGCA Direct Gain 0 0.94603692113593 Functional Gain 0.94603692113593 - XPNPEP3 ENSG00000196236 UTR3 Human protein_coding chr22:41325805 chr22:41325805 . . 0 21 hPsi_associated_SNPs_1804 1 Likely benign Nephronophthisis-Like Nephropathy RCV000379474.1
96 chr22 41553337 41553337 1 + C T rs76268515 41553337 + 41553317 41553357 41 TCACGGGTATACAAATACTGCTCCAAGCTCTCTGAGGTCTT TCACGGGTATACAAATACTGTTCCAAGCTCTCTGAGGTCTT Direct Gain 0 0.901137759244258 Functional Gain 0.901137759244258 - EP300 ENSG00000100393 CDS Human protein_coding chr22:41553337 chr22:41553337 synonymous SNV . 0 21 hPsi_associated_SNPs_1808 2 Benign not specified RCV000145955.1
97 chr22 41553337 41553337 1 + C T rs76268515 41553337 + 41553317 41553357 41 TCACGGGTATACAAATACTGCTCCAAGCTCTCTGAGGTCTT TCACGGGTATACAAATACTGTTCCAAGCTCTCTGAGGTCTT Direct Gain 0 0.901137759244258 Functional Gain 0.901137759244258 - EP300 ENSG00000100393 CDS Human protein_coding chr22:41553337 chr22:41553337 synonymous SNV . 0 21 hPsi_associated_SNPs_1808 2 Likely benign Rubinstein-Taybi syndrome RCV000328310.1
98 chr22 50962463 50962463 1 + C T rs150880212 50962463 + 50962443 50962483 41 CAGTGAGTGAAGCCAAAGTACATCAGCACCCACTGGCCCCG CAGTGAGTGAAGCCAAAGTATATCAGCACCCACTGGCCCCG Direct Gain 0 0.904474770534228 Functional Gain 0.904474770534228 - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962463 chr22:50962463 nonsynonymous SNV 0.992 1 21 hPsi_associated_SNPs_1822 1 Uncertain significance not specified RCV000197726.2
99 chr17 37881000 37881000 1 + G T BLCA 37881000 + 37880980 37881020 41 AAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCC AAGCATACGTGATGGCTGGTTTGGGCTCCCCATATGTCTCC Direct Gain 0 0.876554590448731 Functional Gain 0.876554590448731 - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37881000 chr17:37881000 nonsynonymous SNV 0.999 0 21 hPsi_associated_SNPs_2181 4 Uncertain significance not specified RCV000038130.2
100 chr17 37881000 37881000 1 + G T BLCA 37881000 + 37880980 37881020 41 AAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCC AAGCATACGTGATGGCTGGTTTGGGCTCCCCATATGTCTCC Direct Gain 0 0.876554590448731 Functional Gain 0.876554590448731 - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37881000 chr17:37881000 nonsynonymous SNV 0.999 0 21 hPsi_associated_SNPs_2181 4 Likely pathogenic Adenocarcinoma of stomach RCV000417571.1
101 chr17 37881000 37881000 1 + G T BLCA 37881000 + 37880980 37881020 41 AAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCC AAGCATACGTGATGGCTGGTTTGGGCTCCCCATATGTCTCC Direct Gain 0 0.876554590448731 Functional Gain 0.876554590448731 - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37881000 chr17:37881000 nonsynonymous SNV 0.999 0 21 hPsi_associated_SNPs_2181 4 Pathogenic Neoplasm of the breast RCV000428506.1
102 chr17 37881000 37881000 1 + G T BLCA 37881000 + 37880980 37881020 41 AAGCATACGTGATGGCTGGTGTGGGCTCCCCATATGTCTCC AAGCATACGTGATGGCTGGTTTGGGCTCCCCATATGTCTCC Direct Gain 0 0.876554590448731 Functional Gain 0.876554590448731 - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37881000 chr17:37881000 nonsynonymous SNV 0.999 0 21 hPsi_associated_SNPs_2181 4 Likely pathogenic Colorectal Neoplasms RCV000435242.1
103 chr13 32937584 32937584 1 + C T HNSC 32937584 + 32937564 32937604 41 ATGGCAGACTGACAGTTGGTCAGAAGATTATTCTTCATGGA ATGGCAGACTGACAGTTGGTTAGAAGATTATTCTTCATGGA Direct Gain 0 0.895171273640857 Functional Gain 0.895171273640857 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32937584 chr13:32937584 stopgain 0.998 1 21 hPsi_associated_SNPs_2703 1 Pathogenic Hereditary breast and ovarian cancer syndrome RCV000496216.1
104 chr13 32907114 32907114 1 + G T HNSC 32907114 + 32907094 32907134 41 AGTGGCTTCTTCATTTCAGGGTATCAAAAAGTCTATATTCA AGTGGCTTCTTCATTTCAGGTTATCAAAAAGTCTATATTCA Direct Gain 0 0.855683132815265 Functional Gain 0.855683132815265 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907114 chr13:32907114 nonsynonymous SNV 0.528 2 21 hPsi_associated_SNPs_2742 1 Uncertain significance not specified RCV000486849.1
105 chr4 1902957 1902957 1 + C T LUSC 1902957 + 1902937 1902977 41 GCAGCTCTTGTGTCTAAGATCTCAAGTCCTTCAGATAAAAA GCAGCTCTTGTGTCTAAGATTTCAAGTCCTTCAGATAAAAA Direct Gain 0 0.9346105383241 Functional Gain 0.9346105383241 - NSD2 ENSG00000109685 CDS Human protein_coding chr4:1902957 chr4:1902957 synonymous SNV . 0 21 hPsi_associated_SNPs_3307 1 Uncertain significance 4p partial monosomy syndrome RCV000336352.1
106 chr1 237791205 237791205 1 + C T SKCM 237791205 + 237791185 237791225 41 GGGCCATGTTTGTGTTGCTCCATCGGCAGTATGACGGCATT GGGCCATGTTTGTGTTGCTCTATCGGCAGTATGACGGCATT Direct Gain 0 0.895004147602333 Functional Gain 0.895004147602333 - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237791205 chr1:237791205 nonsynonymous SNV 0.964 3 21 hPsi_associated_SNPs_3743 1 Uncertain significance not specified RCV000429254.1
107 chr8 100712025 100712025 1 + C T SKCM 100712025 + 100712005 100712045 41 GGAGAGCTGTTTCCTGCTTTCAAAAAATTTCTGTTCAAACT GGAGAGCTGTTTCCTGCTTTTAAAAAATTTCTGTTCAAACT Direct Gain 0 0.936840194620829 Functional Gain 0.936840194620829 - VPS13B ENSG00000132549 CDS Human protein_coding chr8:100712025 chr8:100712025 stopgain 1.000 1 21 hPsi_associated_SNPs_3928 1 Likely pathogenic Cohen syndrome RCV000410561.1
108 chr13 32915239 32915239 1 + C T STAD 32915239 + 32915219 32915259 41 TCTAAACTGCCAAGTCATGCCACACATTCTCTTTTTACATG TCTAAACTGCCAAGTCATGCTACACATTCTCTTTTTACATG Direct Gain 0 0.840885710878382 Functional Gain 0.840885710878382 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32915239 chr13:32915239 synonymous SNV . 0 21 hPsi_associated_SNPs_4265 2 Likely benign Hereditary cancer-predisposing syndrome RCV000163559.1
109 chr13 32915239 32915239 1 + C T STAD 32915239 + 32915219 32915259 41 TCTAAACTGCCAAGTCATGCCACACATTCTCTTTTTACATG TCTAAACTGCCAAGTCATGCTACACATTCTCTTTTTACATG Direct Gain 0 0.840885710878382 Functional Gain 0.840885710878382 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32915239 chr13:32915239 synonymous SNV . 0 21 hPsi_associated_SNPs_4265 2 Likely benign Breast-ovarian cancer, familial 2 RCV000495640.2
110 chr13 32931969 32931969 1 + A T UCEC 32931969 + 32931949 32931989 41 ACACTGAAGATTATTTTGGTAAGGAAAGTTTATGGACTGGA ACACTGAAGATTATTTTGGTTAGGAAAGTTTATGGACTGGA Direct Gain 0 0.898166765572283 Functional Gain 0.898166765572283 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32931969 chr13:32931969 stopgain 0.973 1 21 hPsi_associated_SNPs_4616 1 Pathogenic Breast-ovarian cancer, familial 2 RCV000257007.2
111 chr5 70945074 70945074 1 + C T UCEC 70945074 + 70945054 70945094 41 CTATGGGATGTGTGGCAGAGCATATAGGTAGGTGTCATGAT CTATGGGATGTGTGGCAGAGTATATAGGTAGGTGTCATGAT Direct Gain 0 0.90815292220851 Functional Gain 0.90815292220851 - MCCC2 ENSG00000131844 CDS Human protein_coding chr5:70945074 chr5:70945074 nonsynonymous SNV 0.774 4 21 hPsi_associated_SNPs_4765 1 Uncertain significance not specified RCV000153475.3
112 chr13 32971071 32971071 1 + C T UCS 32971071 + 32971051 32971091 41 GCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCA GCAATGAAGCAGAAAACAAGTTTATGCATATACTGCATGCA Direct Gain 0 0.907723261640478 Functional Gain 0.907723261640478 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32971071 chr13:32971071 nonsynonymous SNV 0.971 5 21 hPsi_associated_SNPs_5105 4 not provided Familial cancer of breast RCV000045851.2
113 chr13 32971071 32971071 1 + C T UCS 32971071 + 32971051 32971091 41 GCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCA GCAATGAAGCAGAAAACAAGTTTATGCATATACTGCATGCA Direct Gain 0 0.907723261640478 Functional Gain 0.907723261640478 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32971071 chr13:32971071 nonsynonymous SNV 0.971 5 21 hPsi_associated_SNPs_5105 4 Uncertain significance Breast-ovarian cancer, familial 2 RCV000077472.3
114 chr13 32971071 32971071 1 + C T UCS 32971071 + 32971051 32971091 41 GCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCA GCAATGAAGCAGAAAACAAGTTTATGCATATACTGCATGCA Direct Gain 0 0.907723261640478 Functional Gain 0.907723261640478 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32971071 chr13:32971071 nonsynonymous SNV 0.971 5 21 hPsi_associated_SNPs_5105 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000165783.1
115 chr13 32971071 32971071 1 + C T UCS 32971071 + 32971051 32971091 41 GCAATGAAGCAGAAAACAAGCTTATGCATATACTGCATGCA GCAATGAAGCAGAAAACAAGTTTATGCATATACTGCATGCA Direct Gain 0 0.907723261640478 Functional Gain 0.907723261640478 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32971071 chr13:32971071 nonsynonymous SNV 0.971 5 21 hPsi_associated_SNPs_5105 4 Uncertain significance not specified RCV000482475.1
116 chr1 43890811 43890811 1 + G A rs143992266 43890811 - 43890791 43890831 41 AACACAGGTGTGCTTCTCTTCAGCTGCAGCCTGCCCTGGTG AACACAGGTGTGCTTCTCTTTAGCTGCAGCCTGCCCTGGTG Direct Gain 0 0.937449539839843 Functional Gain 0.937449539839843 - SZT2 ENSG00000198198 CDS Human protein_coding chr1:43890811 chr1:43890811 nonsynonymous SNV 1.000 0 21 hPsi_associated_SNPs_5134 1 Benign not specified RCV000227489.3
117 chr1 43907236 43907236 1 + G A rs139486476 43907236 - 43907216 43907256 41 CTCCATCCAGCGCTGAGCAACACGGGCAAACACAGGATGAA CTCCATCCAGCGCTGAGCAATACGGGCAAACACAGGATGAA Direct Gain 0 0.858355339951077 Functional Gain 0.858355339951077 - SZT2 ENSG00000198198 CDS Human protein_coding chr1:43907236 chr1:43907236 nonsynonymous SNV 0.004 0 21 hPsi_associated_SNPs_5136 1 Benign not specified RCV000469443.1
118 chr1 93299193 93299193 1 + G A rs58263806 93299193 - 93299173 93299213 41 CAAATGATATCTCTGTTTGTCACACGAACTATCATCCTGTA CAAATGATATCTCTGTTTGTTACACGAACTATCATCCTGTA Direct Gain 0 0.970855289065108 Functional Gain 0.970855289065108 - RPL5 ENSG00000122406 CDS Human protein_coding chr1:93299193 chr1:93299193 synonymous SNV . 0 21 hPsi_associated_SNPs_5149 1 other Diamond-Blackfan anemia RCV000228141.3
119 chr1 116234083 116234083 1 + T A rs3811013 116234083 - 116234063 116234103 41 AGCAATGAAGAAGAATTTTTAAAAAAGACACCCCTCTGGCA AGCAATGAAGAAGAATTTTTTAAAAAGACACCCCTCTGGCA Direct Gain 0 0.920978575920699 Functional Gain 0.920978575920699 - VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234083 chr1:116234083 . . 0 21 hPsi_associated_SNPs_5164 2 Likely benign Caudal dysgenesis syndrome RCV000272536.1
120 chr1 116234083 116234083 1 + T A rs3811013 116234083 - 116234063 116234103 41 AGCAATGAAGAAGAATTTTTAAAAAAGACACCCCTCTGGCA AGCAATGAAGAAGAATTTTTTAAAAAGACACCCCTCTGGCA Direct Gain 0 0.920978575920699 Functional Gain 0.920978575920699 - VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234083 chr1:116234083 . . 0 21 hPsi_associated_SNPs_5164 2 Likely benign Neural tube defect RCV000327561.1
121 chr1 116234416 116234416 1 + G A rs3811011 116234416 - 116234396 116234436 41 AAATACATATGTGGACGTGTCGTGACTGGTTTCCTGAAACA AAATACATATGTGGACGTGTTGTGACTGGTTTCCTGAAACA Direct Gain 0 0.869504076407069 Functional Gain 0.869504076407069 - VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234416 chr1:116234416 . . 0 21 hPsi_associated_SNPs_5165 2 Likely benign Caudal dysgenesis syndrome RCV000270529.1
122 chr1 116234416 116234416 1 + G A rs3811011 116234416 - 116234396 116234436 41 AAATACATATGTGGACGTGTCGTGACTGGTTTCCTGAAACA AAATACATATGTGGACGTGTTGTGACTGGTTTCCTGAAACA Direct Gain 0 0.869504076407069 Functional Gain 0.869504076407069 - VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234416 chr1:116234416 . . 0 21 hPsi_associated_SNPs_5165 2 Likely benign Neural tube defect RCV000365399.1
123 chr1 120285546 120285546 1 + G A rs543703 120285546 - 120285526 120285566 41 TTGAGCCCCTGCAGTACAGGCGTAGTGCCTTGGACCAAGCC TTGAGCCCCTGCAGTACAGGTGTAGTGCCTTGGACCAAGCC Direct Gain 0 0.841191541567313 Functional Gain 0.841191541567313 - PHGDH ENSG00000092621 CDS Human protein_coding chr1:120285546 chr1:120285546 synonymous SNV . 0 21 hPsi_associated_SNPs_5172 1 Benign Phosphoglycerate dehydrogenase deficiency RCV000331261.1
124 chr1 145416483 145416483 1 + C A rs140919572 145416483 - 145416463 145416503 41 GTGCCAATGTAGGCAGCTTGGATCTCCACATGGTTCCCAGG GTGCCAATGTAGGCAGCTTGTATCTCCACATGGTTCCCAGG Direct Gain 0 0.872002024945834 Functional Gain 0.872002024945834 - HFE2 ENSG00000168509 CDS Human protein_coding chr1:145416483 chr1:145416483 synonymous SNV . 0 21 hPsi_associated_SNPs_5183 1 Uncertain significance Juvenile hemochromatosis RCV000260687.1
125 chr1 227153401 227153401 1 + G A rs115855910 227153401 - 227153381 227153421 41 CGGCCAATCCTCGTCACAGGCACCTTCCGCTCCCGGGCATG CGGCCAATCCTCGTCACAGGTACCTTCCGCTCCCGGGCATG Direct Gain 0 0.926753125501251 Functional Gain 0.926753125501251 - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227153401 chr1:227153401 synonymous SNV . 0 21 hPsi_associated_SNPs_5261 1 Benign not specified RCV000200743.1
126 chr1 237982383 237982383 1 + C A rs114303476 237982383 - 237982363 237982403 41 GGGTCTTCGATTTCATCCCCGATCCCTCCTCCAGCACGAAC GGGTCTTCGATTTCATCCCCTATCCCTCCTCCAGCACGAAC Direct Gain 0 0.841684201604612 Functional Gain 0.841684201604612 - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237982383 chr1:237982383 synonymous SNV . 0 21 hPsi_associated_SNPs_5282 2 other not specified RCV000036699.5
127 chr1 237982383 237982383 1 + C A rs114303476 237982383 - 237982363 237982403 41 GGGTCTTCGATTTCATCCCCGATCCCTCCTCCAGCACGAAC GGGTCTTCGATTTCATCCCCTATCCCTCCTCCAGCACGAAC Direct Gain 0 0.841684201604612 Functional Gain 0.841684201604612 - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237982383 chr1:237982383 synonymous SNV . 0 21 hPsi_associated_SNPs_5282 2 Benign Catecholaminergic polymorphic ventricular tachycardia RCV000465865.1
128 chr1 237996003 237996003 1 + C A rs74703306 237996003 - 237995983 237996023 41 TCCAAGAGAGCAGAGAAATTGAGAGAGGGAGAGAGAGGGGT TCCAAGAGAGCAGAGAAATTTAGAGAGGGAGAGAGAGGGGT Direct Gain 0 0.868064187817068 Functional Gain 0.868064187817068 - RYR2 ENSG00000198626 UTR3 Human protein_coding chr1:237996003 chr1:237996003 . . 0 21 hPsi_associated_SNPs_5283 2 Likely benign Catecholaminergic polymorphic ventricular tachycardia RCV000369630.1
129 chr1 237996003 237996003 1 + C A rs74703306 237996003 - 237995983 237996023 41 TCCAAGAGAGCAGAGAAATTGAGAGAGGGAGAGAGAGGGGT TCCAAGAGAGCAGAGAAATTTAGAGAGGGAGAGAGAGGGGT Direct Gain 0 0.868064187817068 Functional Gain 0.868064187817068 - RYR2 ENSG00000198626 UTR3 Human protein_coding chr1:237996003 chr1:237996003 . . 0 21 hPsi_associated_SNPs_5283 2 Likely benign Cardiomyopathy, ARVC RCV000407312.1
130 chr2 189849536 189849536 1 + G A rs79632685 189849536 - 189849516 189849556 41 GCATGGTTCTGGCTTCCAGACATCTCTATCCGCATAGGACT GCATGGTTCTGGCTTCCAGATATCTCTATCCGCATAGGACT Direct Gain 0 0.961065113473096 Functional Gain 0.961065113473096 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189849536 chr2:189849536 nonsynonymous SNV 0.999 3 21 hPsi_associated_SNPs_5364 3 Uncertain significance not specified RCV000181064.3
131 chr2 189849536 189849536 1 + G A rs79632685 189849536 - 189849516 189849556 41 GCATGGTTCTGGCTTCCAGACATCTCTATCCGCATAGGACT GCATGGTTCTGGCTTCCAGATATCTCTATCCGCATAGGACT Direct Gain 0 0.961065113473096 Functional Gain 0.961065113473096 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189849536 chr2:189849536 nonsynonymous SNV 0.999 3 21 hPsi_associated_SNPs_5364 3 Likely benign Ehlers-Danlos syndrome, type 4 RCV000226945.2
132 chr2 189849536 189849536 1 + G A rs79632685 189849536 - 189849516 189849556 41 GCATGGTTCTGGCTTCCAGACATCTCTATCCGCATAGGACT GCATGGTTCTGGCTTCCAGATATCTCTATCCGCATAGGACT Direct Gain 0 0.961065113473096 Functional Gain 0.961065113473096 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189849536 chr2:189849536 nonsynonymous SNV 0.999 3 21 hPsi_associated_SNPs_5364 3 Uncertain significance Thoracic aortic aneurysm and aortic dissection RCV000244984.1
133 chr2 189864023 189864023 1 + G A rs41263773 189864023 - 189864003 189864043 41 AGGTCCACGTTCACCAGGGGCACCAGCATCACCCTGTGACA AGGTCCACGTTCACCAGGGGTACCAGCATCACCCTGTGACA Direct Gain 0 0.900581024904448 Functional Gain 0.900581024904448 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189864023 chr2:189864023 nonsynonymous SNV 0.987 1 21 hPsi_associated_SNPs_5365 4 Likely benign Familial aortopathy RCV000029620.1
134 chr2 189864023 189864023 1 + G A rs41263773 189864023 - 189864003 189864043 41 AGGTCCACGTTCACCAGGGGCACCAGCATCACCCTGTGACA AGGTCCACGTTCACCAGGGGTACCAGCATCACCCTGTGACA Direct Gain 0 0.900581024904448 Functional Gain 0.900581024904448 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189864023 chr2:189864023 nonsynonymous SNV 0.987 1 21 hPsi_associated_SNPs_5365 4 Benign not specified RCV000181054.4
135 chr2 189864023 189864023 1 + G A rs41263773 189864023 - 189864003 189864043 41 AGGTCCACGTTCACCAGGGGCACCAGCATCACCCTGTGACA AGGTCCACGTTCACCAGGGGTACCAGCATCACCCTGTGACA Direct Gain 0 0.900581024904448 Functional Gain 0.900581024904448 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189864023 chr2:189864023 nonsynonymous SNV 0.987 1 21 hPsi_associated_SNPs_5365 4 Benign Ehlers-Danlos syndrome, type 4 RCV000205824.3
136 chr2 189864023 189864023 1 + G A rs41263773 189864023 - 189864003 189864043 41 AGGTCCACGTTCACCAGGGGCACCAGCATCACCCTGTGACA AGGTCCACGTTCACCAGGGGTACCAGCATCACCCTGTGACA Direct Gain 0 0.900581024904448 Functional Gain 0.900581024904448 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189864023 chr2:189864023 nonsynonymous SNV 0.987 1 21 hPsi_associated_SNPs_5365 4 Benign Thoracic aortic aneurysm and aortic dissection RCV000243898.1
137 chr2 189870953 189870953 1 + C A rs139619440 189870953 - 189870933 189870973 41 AGATCCATCTCGGCCTGGAAGACCATCTGATCCAGGGTTTC AGATCCATCTCGGCCTGGAATACCATCTGATCCAGGGTTTC Direct Gain 0 0.926453630309938 Functional Gain 0.926453630309938 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189870953 chr2:189870953 nonsynonymous SNV 0.954 3 21 hPsi_associated_SNPs_5366 2 Uncertain significance not specified RCV000181104.2
138 chr2 189870953 189870953 1 + C A rs139619440 189870953 - 189870933 189870973 41 AGATCCATCTCGGCCTGGAAGACCATCTGATCCAGGGTTTC AGATCCATCTCGGCCTGGAATACCATCTGATCCAGGGTTTC Direct Gain 0 0.926453630309938 Functional Gain 0.926453630309938 - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189870953 chr2:189870953 nonsynonymous SNV 0.954 3 21 hPsi_associated_SNPs_5366 2 other Ehlers-Danlos syndrome, type 4 RCV000226013.3
139 chr2 203425905 203425905 1 + C A rs113305949 203425905 - 203425885 203425925 41 AGCAGCCCTTCCTTCATAGGGACTTGGCATGCCACTTGAAT AGCAGCCCTTCCTTCATAGGTACTTGGCATGCCACTTGAAT Direct Gain 0 0.935355276174704 Functional Gain 0.935355276174704 - BMPR2 ENSG00000204217 UTR3 Human protein_coding chr2:203425905 chr2:203425905 . . 0 21 hPsi_associated_SNPs_5377 1 Likely benign Primary pulmonary hypertension RCV000322495.1
140 chr2 211513215 211513215 1 + G A rs76340296 211513215 - 211513195 211513235 41 GGGGTAGTCCACAGACTTTGCAAATTCCAGTGCTTCATTCT GGGGTAGTCCACAGACTTTGTAAATTCCAGTGCTTCATTCT Direct Gain 0 0.883026464597075 Functional Gain 0.883026464597075 - CPS1 ENSG00000021826 CDS Human protein_coding chr2:211513215 chr2:211513215 nonsynonymous SNV 1.000 2 21 hPsi_associated_SNPs_5385 3 Likely benign not provided RCV000224218.1
141 chr2 211513215 211513215 1 + G A rs76340296 211513215 - 211513195 211513235 41 GGGGTAGTCCACAGACTTTGCAAATTCCAGTGCTTCATTCT GGGGTAGTCCACAGACTTTGTAAATTCCAGTGCTTCATTCT Direct Gain 0 0.883026464597075 Functional Gain 0.883026464597075 - CPS1 ENSG00000021826 CDS Human protein_coding chr2:211513215 chr2:211513215 nonsynonymous SNV 1.000 2 21 hPsi_associated_SNPs_5385 3 Likely benign Congenital hyperammonemia, type I RCV000403764.1
142 chr2 211513215 211513215 1 + G A rs76340296 211513215 - 211513195 211513235 41 GGGGTAGTCCACAGACTTTGCAAATTCCAGTGCTTCATTCT GGGGTAGTCCACAGACTTTGTAAATTCCAGTGCTTCATTCT Direct Gain 0 0.883026464597075 Functional Gain 0.883026464597075 - CPS1 ENSG00000021826 CDS Human protein_coding chr2:211513215 chr2:211513215 nonsynonymous SNV 1.000 2 21 hPsi_associated_SNPs_5385 3 Benign not specified RCV000430042.1
143 chr3 38533010 38533010 1 + G A rs116523268 38533010 - 38532990 38533030 41 AAATTATTTGGCTAAACACACACTTAACTCGTGGCAGTGCT AAATTATTTGGCTAAACACATACTTAACTCGTGGCAGTGCT Direct Gain 0 0.92635069659882 Functional Gain 0.92635069659882 - ACVR2B ENSG00000114739 UTR3 Human protein_coding chr3:38533010 chr3:38533010 . . 0 21 hPsi_associated_SNPs_5398 1 Likely benign Heterotaxy syndrome RCV000400791.1
144 chr4 2840553 2840553 1 + C A rs142420602 2840553 - 2840533 2840573 41 AAAAACACACGTGCATCAGAGACATGGACAAAACTGTTGCT AAAAACACACGTGCATCAGATACATGGACAAAACTGTTGCT Direct Gain 0 0.852323496981018 Functional Gain 0.852323496981018 - SH3BP2 ENSG00000087266 UTR3 Human protein_coding chr4:2840553 chr4:2840553 . . 0 21 hPsi_associated_SNPs_5418 1 Likely benign Fibrous dysplasia of jaw RCV000318283.1
145 chr4 41259633 41259633 1 + C A rs5030732 41259633 - 41259613 41259653 41 GGCCGGCGACCCCCAGCCGGGACAGCACCTGCGGAGAGGAG GGCCGGCGACCCCCAGCCGGTACAGCACCTGCGGAGAGGAG Direct Gain 0 0.94156338383377 Functional Gain 0.94156338383377 - UCHL1 ENSG00000154277 CDS Human protein_coding chr4:41259633 chr4:41259633 nonsynonymous SNV 0.971 0 21 hPsi_associated_SNPs_5423 2 Uncertain significance Parkinson disease 5 RCV000013092.3
146 chr4 41259633 41259633 1 + C A rs5030732 41259633 - 41259613 41259653 41 GGCCGGCGACCCCCAGCCGGGACAGCACCTGCGGAGAGGAG GGCCGGCGACCCCCAGCCGGTACAGCACCTGCGGAGAGGAG Direct Gain 0 0.94156338383377 Functional Gain 0.94156338383377 - UCHL1 ENSG00000154277 CDS Human protein_coding chr4:41259633 chr4:41259633 nonsynonymous SNV 0.971 0 21 hPsi_associated_SNPs_5423 2 Benign Parkinson Disease, Dominant RCV000397411.1
147 chr5 82834009 82834009 1 + G A rs35648048 82834009 - 82833989 82834029 41 GAAGCCGTACCTGTAGTTCCCTCCTCCTCCTTCCTTTTCTT GAAGCCGTACCTGTAGTTCCTTCCTCCTCCTTCCTTTTCTT Direct Gain 0 0.889792635419568 Functional Gain 0.889792635419568 - VCAN ENSG00000038427 CDS Human protein_coding chr5:82834009 chr5:82834009 synonymous SNV . 0 21 hPsi_associated_SNPs_5452 3 other not specified RCV000154118.4
148 chr5 82834009 82834009 1 + G A rs35648048 82834009 - 82833989 82834029 41 GAAGCCGTACCTGTAGTTCCCTCCTCCTCCTTCCTTTTCTT GAAGCCGTACCTGTAGTTCCTTCCTCCTCCTTCCTTTTCTT Direct Gain 0 0.889792635419568 Functional Gain 0.889792635419568 - VCAN ENSG00000038427 CDS Human protein_coding chr5:82834009 chr5:82834009 synonymous SNV . 0 21 hPsi_associated_SNPs_5452 3 Likely benign Wagner syndrome RCV000302966.1
149 chr5 82834009 82834009 1 + G A rs35648048 82834009 - 82833989 82834029 41 GAAGCCGTACCTGTAGTTCCCTCCTCCTCCTTCCTTTTCTT GAAGCCGTACCTGTAGTTCCTTCCTCCTCCTTCCTTTTCTT Direct Gain 0 0.889792635419568 Functional Gain 0.889792635419568 - VCAN ENSG00000038427 CDS Human protein_coding chr5:82834009 chr5:82834009 synonymous SNV . 0 21 hPsi_associated_SNPs_5452 3 Likely benign Vitreoretinopathy RCV000393526.1
150 chr8 38103323 38103323 1 + T A rs139393309 38103323 - 38103303 38103343 41 TTGTAGAAGAAGACATCCAGAATTGTGTCATTGGTGAAGTG TTGTAGAAGAAGACATCCAGTATTGTGTCATTGGTGAAGTG Direct Gain 0 0.850193999210383 Functional Gain 0.850193999210383 - DDHD2 ENSG00000085788 CDS Human protein_coding chr8:38103323 chr8:38103323 synonymous SNV . 0 21 hPsi_associated_SNPs_5505 1 Likely benign not specified RCV000417455.1
151 chr9 79792440 79792440 1 + G A rs117488726 79792440 - 79792420 79792460 41 GAGACGGAGGCGGTCGCTCTCACGACGCGTGCGCAAGTCTG GAGACGGAGGCGGTCGCTCTTACGACGCGTGCGCAAGTCTG Direct Gain 0 0.919132302831776 Functional Gain 0.919132302831776 - VPS13A-AS1 ENSG00000232998 ncRNA_intronic Human antisense chr9:79792440 chr9:79792440 . . 0 21 hPsi_associated_SNPs_5528 1 Likely benign Choreoacanthocytosis RCV000316336.1
152 chr9 79936579 79936579 1 + G A rs73467962 79936579 - 79936559 79936599 41 TGGTTCGGATATAATCCATACTTAAACTTTCTCCATTTTTC TGGTTCGGATATAATCCATATTTAAACTTTCTCCATTTTTC Direct Gain 0 0.905923139448742 Functional Gain 0.905923139448742 - VPS13A ENSG00000197969 CDS Human protein_coding chr9:79936579 chr9:79936579 nonsynonymous SNV 1.000 0 21 hPsi_associated_SNPs_5529 1 Likely benign Choreoacanthocytosis RCV000401484.1
153 chr9 119461275 119461275 1 + G A rs1661300 119461275 - 119461255 119461295 41 TCTGCCCCAAGGAAGCTTAGCACAAAGCTATCAATGCCACT TCTGCCCCAAGGAAGCTTAGTACAAAGCTATCAATGCCACT Direct Gain 0 0.869669343404418 Functional Gain 0.869669343404418 - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119461275 chr9:119461275 synonymous SNV . 0 21 hPsi_associated_SNPs_5553 3 other not specified RCV000081522.10
154 chr9 119461275 119461275 1 + G A rs1661300 119461275 - 119461255 119461295 41 TCTGCCCCAAGGAAGCTTAGCACAAAGCTATCAATGCCACT TCTGCCCCAAGGAAGCTTAGTACAAAGCTATCAATGCCACT Direct Gain 0 0.869669343404418 Functional Gain 0.869669343404418 - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119461275 chr9:119461275 synonymous SNV . 0 21 hPsi_associated_SNPs_5553 3 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000270373.1
155 chr9 119461275 119461275 1 + G A rs1661300 119461275 - 119461255 119461295 41 TCTGCCCCAAGGAAGCTTAGCACAAAGCTATCAATGCCACT TCTGCCCCAAGGAAGCTTAGTACAAAGCTATCAATGCCACT Direct Gain 0 0.869669343404418 Functional Gain 0.869669343404418 - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119461275 chr9:119461275 synonymous SNV . 0 21 hPsi_associated_SNPs_5553 3 Likely benign Bardet-Biedl syndrome RCV000306754.1
156 chr9 131374501 131374501 1 + G A rs114745823 131374501 - 131374481 131374521 41 GACAGCCAGAAGTCAAAGTCCTTGATCCCTGTGTTGAAGTT GACAGCCAGAAGTCAAAGTCTTTGATCCCTGTGTTGAAGTT Direct Gain 0 0.907161930751458 Functional Gain 0.907161930751458 - SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131374501 chr9:131374501 synonymous SNV . 0 21 hPsi_associated_SNPs_5559 2 Benign not specified RCV000128255.3
157 chr9 131374501 131374501 1 + G A rs114745823 131374501 - 131374481 131374521 41 GACAGCCAGAAGTCAAAGTCCTTGATCCCTGTGTTGAAGTT GACAGCCAGAAGTCAAAGTCTTTGATCCCTGTGTTGAAGTT Direct Gain 0 0.907161930751458 Functional Gain 0.907161930751458 - SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131374501 chr9:131374501 synonymous SNV . 0 21 hPsi_associated_SNPs_5559 2 Benign Early infantile epileptic encephalopathy RCV000474276.1
158 chr10 75879511 75879511 1 + T A rs703258 75879511 - 75879491 75879531 41 TGAAAATAATCATCCTCATTATAAAGGAAATAGTGAAAGCC TGAAAATAATCATCCTCATTTTAAAGGAAATAGTGAAAGCC Direct Gain 0 0.841675618901646 Functional Gain 0.841675618901646 - VCL ENSG00000035403 UTR3 Human protein_coding chr10:75879511 chr10:75879511 . . 0 21 hPsi_associated_SNPs_5620 1 Likely benign Dilated Cardiomyopathy, Dominant RCV000286784.1
159 chr10 104263921 104263921 1 + G A rs189234140 104263921 - 104263901 104263941 41 CCGGGGGCGCCGCTAGGCCGCAGCTCCGCCATCGGGGTGCG CCGGGGGCGCCGCTAGGCCGTAGCTCCGCCATCGGGGTGCG Direct Gain 0 0.943560810854791 Functional Gain 0.943560810854791 - SUFU ENSG00000107882 CDS Human protein_coding chr10:104263921 chr10:104263921 synonymous SNV . 0 21 hPsi_associated_SNPs_5643 3 Benign Gorlin syndrome RCV000225937.2
160 chr10 104263921 104263921 1 + G A rs189234140 104263921 - 104263901 104263941 41 CCGGGGGCGCCGCTAGGCCGCAGCTCCGCCATCGGGGTGCG CCGGGGGCGCCGCTAGGCCGTAGCTCCGCCATCGGGGTGCG Direct Gain 0 0.943560810854791 Functional Gain 0.943560810854791 - SUFU ENSG00000107882 CDS Human protein_coding chr10:104263921 chr10:104263921 synonymous SNV . 0 21 hPsi_associated_SNPs_5643 3 Benign Medulloblastoma RCV000225937.2
161 chr10 104263921 104263921 1 + G A rs189234140 104263921 - 104263901 104263941 41 CCGGGGGCGCCGCTAGGCCGCAGCTCCGCCATCGGGGTGCG CCGGGGGCGCCGCTAGGCCGTAGCTCCGCCATCGGGGTGCG Direct Gain 0 0.943560810854791 Functional Gain 0.943560810854791 - SUFU ENSG00000107882 CDS Human protein_coding chr10:104263921 chr10:104263921 synonymous SNV . 0 21 hPsi_associated_SNPs_5643 3 Uncertain significance Medulloblastoma RCV000307678.1
162 chr11 4104556 4104556 1 + G A rs116837894 4104556 - 4104536 4104576 41 ATCTGGAAGCCACAGAGGATCTCGATCTGTTGCCAGCGGTG ATCTGGAAGCCACAGAGGATTTCGATCTGTTGCCAGCGGTG Direct Gain 0 0.842116340368353 Functional Gain 0.842116340368353 - STIM1 ENSG00000167323 CDS Human protein_coding chr11:4104556 chr11:4104556 synonymous SNV . 0 21 hPsi_associated_SNPs_5651 1 Benign not specified RCV000244458.1
163 chr11 44117122 44117122 1 + G A rs3923808 44117122 - 44117102 44117142 41 CCCAGGCAGGCGCGCTCAGGCTCCGCAGTGAAATGCTCAGA CCCAGGCAGGCGCGCTCAGGTTCCGCAGTGAAATGCTCAGA Direct Gain 0 0.880728682328094 Functional Gain 0.880728682328094 - EXT2 ENSG00000151348 UTR5 Human protein_coding chr11:44117122 chr11:44117122 . . 0 21 hPsi_associated_SNPs_5684 1 Benign Hereditary Multiple Osteochondromatosis RCV000400767.1
164 chr11 95555150 95555150 1 + G A rs117602509 95555150 - 95555130 95555170 41 TTTGCCTGATTTGGTTCTGTCTTCACACCTTTTCTGGTGGT TTTGCCTGATTTGGTTCTGTTTTCACACCTTTTCTGGTGGT Direct Gain 0 0.897679448054702 Functional Gain 0.897679448054702 - CEP57 ENSG00000166037 UTR3 Human protein_coding chr11:95555150 chr11:95555150 . . 0 21 hPsi_associated_SNPs_5735 1 Benign Mosaic variegated aneuploidy syndrome 2 RCV000458740.1
165 chr11 103006557 103006557 1 + G A rs77738279 103006557 - 103006537 103006577 41 AAAATAGATTCATCTCCTGCCTCACCCACTCCCTTAAACTG AAAATAGATTCATCTCCTGCTTCACCCACTCCCTTAAACTG Direct Gain 0 0.919171283766172 Functional Gain 0.919171283766172 - DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103006557 chr11:103006557 synonymous SNV . 0 21 hPsi_associated_SNPs_5738 3 Likely benign Short Rib Polydactyly Syndrome RCV000294863.1
166 chr11 103006557 103006557 1 + G A rs77738279 103006557 - 103006537 103006577 41 AAAATAGATTCATCTCCTGCCTCACCCACTCCCTTAAACTG AAAATAGATTCATCTCCTGCTTCACCCACTCCCTTAAACTG Direct Gain 0 0.919171283766172 Functional Gain 0.919171283766172 - DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103006557 chr11:103006557 synonymous SNV . 0 21 hPsi_associated_SNPs_5738 3 other Jeune thoracic dystrophy RCV000373006.1
167 chr11 103006557 103006557 1 + G A rs77738279 103006557 - 103006537 103006577 41 AAAATAGATTCATCTCCTGCCTCACCCACTCCCTTAAACTG AAAATAGATTCATCTCCTGCTTCACCCACTCCCTTAAACTG Direct Gain 0 0.919171283766172 Functional Gain 0.919171283766172 - DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103006557 chr11:103006557 synonymous SNV . 0 21 hPsi_associated_SNPs_5738 3 Benign not specified RCV000431092.2
168 chr11 103058297 103058297 1 + G A rs116574613 103058297 - 103058277 103058317 41 ACCTGTTGTAGGAATGCTACCAAAGTACTGGTCCCCCATTT ACCTGTTGTAGGAATGCTACTAAAGTACTGGTCCCCCATTT Direct Gain 0 0.844486686211688 Functional Gain 0.844486686211688 - DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103058297 chr11:103058297 synonymous SNV . 0 21 hPsi_associated_SNPs_5740 2 Likely benign Jeune thoracic dystrophy RCV000285647.1
169 chr11 103058297 103058297 1 + G A rs116574613 103058297 - 103058277 103058317 41 ACCTGTTGTAGGAATGCTACCAAAGTACTGGTCCCCCATTT ACCTGTTGTAGGAATGCTACTAAAGTACTGGTCCCCCATTT Direct Gain 0 0.844486686211688 Functional Gain 0.844486686211688 - DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103058297 chr11:103058297 synonymous SNV . 0 21 hPsi_associated_SNPs_5740 2 Likely benign Short Rib Polydactyly Syndrome RCV000335953.1
170 chr12 1005644 1005644 1 + G A rs61736907 1005644 - 1005624 1005664 41 GGCTCTGACAGTTCAGGCTTCTCTTTCTTTGGTATCACAGC GGCTCTGACAGTTCAGGCTTTTCTTTCTTTGGTATCACAGC Direct Gain 0 0.949727150504444 Functional Gain 0.949727150504444 - WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005644 chr12:1005644 synonymous SNV . 0 21 hPsi_associated_SNPs_5766 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000263989.1
171 chr12 1005644 1005644 1 + G A rs61736907 1005644 - 1005624 1005664 41 GGCTCTGACAGTTCAGGCTTCTCTTTCTTTGGTATCACAGC GGCTCTGACAGTTCAGGCTTTTCTTTCTTTGGTATCACAGC Direct Gain 0 0.949727150504444 Functional Gain 0.949727150504444 - WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005644 chr12:1005644 synonymous SNV . 0 21 hPsi_associated_SNPs_5766 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000361402.1
172 chr12 1005685 1005685 1 + C A rs560836712 1005685 - 1005665 1005705 41 AAGCGGCCTCCGGGTCAGAAGACGGCCCATTTAGATGTGAA AAGCGGCCTCCGGGTCAGAATACGGCCCATTTAGATGTGAA Direct Gain 0 0.87817456389021 Functional Gain 0.87817456389021 - WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005685 chr12:1005685 nonsynonymous SNV 1.000 2 21 hPsi_associated_SNPs_5767 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000321423.1
173 chr12 1005685 1005685 1 + C A rs560836712 1005685 - 1005665 1005705 41 AAGCGGCCTCCGGGTCAGAAGACGGCCCATTTAGATGTGAA AAGCGGCCTCCGGGTCAGAATACGGCCCATTTAGATGTGAA Direct Gain 0 0.87817456389021 Functional Gain 0.87817456389021 - WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005685 chr12:1005685 nonsynonymous SNV 1.000 2 21 hPsi_associated_SNPs_5767 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000383533.1
174 chr12 7046077 7046077 1 + G A rs11547602 7046077 - 7046057 7046097 41 ACCTGGCTGTGAGGTGGGGGCAGGTGTGCTGGCCCTGGTGG ACCTGGCTGTGAGGTGGGGGTAGGTGTGCTGGCCCTGGTGG Direct Gain 0 0.843097542635401 Functional Gain 0.843097542635401 - ATN1 ENSG00000111676 CDS Human protein_coding chr12:7046077 chr12:7046077 synonymous SNV . 0 21 hPsi_associated_SNPs_5779 1 Likely benign not specified RCV000116430.2
175 chr12 32897586 32897586 1 + G A rs10844336 32897586 - 32897566 32897606 41 GGCACGATCTTAGCTCACCACAACCTCCACCTCCCAGGGTC GGCACGATCTTAGCTCACCATAACCTCCACCTCCCAGGGTC Direct Gain 0 0.916380831780526 Functional Gain 0.916380831780526 - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897586 chr12:32897586 . . 0 21 hPsi_associated_SNPs_5806 3 Benign Lethal Encephalopathy RCV000286166.1
176 chr12 32897586 32897586 1 + G A rs10844336 32897586 - 32897566 32897606 41 GGCACGATCTTAGCTCACCACAACCTCCACCTCCCAGGGTC GGCACGATCTTAGCTCACCATAACCTCCACCTCCCAGGGTC Direct Gain 0 0.916380831780526 Functional Gain 0.916380831780526 - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897586 chr12:32897586 . . 0 21 hPsi_associated_SNPs_5806 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000350379.1
177 chr12 32897586 32897586 1 + G A rs10844336 32897586 - 32897566 32897606 41 GGCACGATCTTAGCTCACCACAACCTCCACCTCCCAGGGTC GGCACGATCTTAGCTCACCATAACCTCCACCTCCCAGGGTC Direct Gain 0 0.916380831780526 Functional Gain 0.916380831780526 - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897586 chr12:32897586 . . 0 21 hPsi_associated_SNPs_5806 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000391184.1
178 chr12 32897623 32897623 1 + G A rs565593913 32897623 - 32897603 32897643 41 CGGAGTTTCGCTCTTGTTGCCAAGGCTGGAGTGCAATGGCA CGGAGTTTCGCTCTTGTTGCTAAGGCTGGAGTGCAATGGCA Direct Gain 0 0.891641065625397 Functional Gain 0.891641065625397 - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897623 chr12:32897623 . . 0 21 hPsi_associated_SNPs_5807 1 Likely benign Lethal Encephalopathy RCV000324791.1
179 chr12 51108283 51108283 1 + C A rs151181050 51108283 - 51108263 51108303 41 TGATCCCTCCAGAAAGAGTTGTTTCGTCTGAGATATATGGA TGATCCCTCCAGAAAGAGTTTTTTCGTCTGAGATATATGGA Direct Gain 0 0.878156684674307 Functional Gain 0.878156684674307 - DIP2B ENSG00000066084 CDS Human protein_coding chr12:51108283 chr12:51108283 nonsynonymous SNV 0.988 1 21 hPsi_associated_SNPs_5814 1 Uncertain significance not specified RCV000360615.1
180 chr12 56435916 56435916 1 + G A rs188808121 56435916 - 56435896 56435936 41 CCGGAGAGAGGAGACGGTGCCTGGCAGGGCCCTCCTATATA CCGGAGAGAGGAGACGGTGCTTGGCAGGGCCCTCCTATATA Direct Gain 0 0.871489951110081 Functional Gain 0.871489951110081 - RPS26 ENSG00000197728 splicing Human protein_coding chr12:56435916 chr12:56435916 . . 0 21 hPsi_associated_SNPs_5825 1 Likely benign Diamond-Blackfan anemia RCV000302442.1
181 chr12 98987445 98987445 1 + G A rs28372744 98987445 - 98987425 98987465 41 AGGCCGGACGTCCTCCGGGTCCTAAGATGTGTGCCCTTCGC AGGCCGGACGTCCTCCGGGTTCTAAGATGTGTGCCCTTCGC Direct Gain 0 0.883827561471644 Functional Gain 0.883827561471644 - SLC25A3 ENSG00000075415 UTR5 Human protein_coding chr12:98987445 chr12:98987445 . . 0 21 hPsi_associated_SNPs_5846 1 Likely benign Mitochondrial phosphate carrier deficiency RCV000311921.1
182 chr13 32937526 32937526 1 + G A rs80359065 32937526 - 32937506 32937546 41 AGGGGAGGATCTAACTGGGCCTTAACAGCATACCACCCATC AGGGGAGGATCTAACTGGGCTTTAACAGCATACCACCCATC Direct Gain 0 0.88598060481603 Functional Gain 0.88598060481603 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32937526 chr13:32937526 synonymous SNV . 0 21 hPsi_associated_SNPs_5867 2 Likely benign Breast-ovarian cancer, familial 2 RCV000113884.2
183 chr13 32937526 32937526 1 + G A rs80359065 32937526 - 32937506 32937546 41 AGGGGAGGATCTAACTGGGCCTTAACAGCATACCACCCATC AGGGGAGGATCTAACTGGGCTTTAACAGCATACCACCCATC Direct Gain 0 0.88598060481603 Functional Gain 0.88598060481603 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32937526 chr13:32937526 synonymous SNV . 0 21 hPsi_associated_SNPs_5867 2 Likely benign not specified RCV000435792.1
184 chr14 73686310 73686310 1 + C A rs362384 73686310 - 73686290 73686330 41 AAATCGTCCTGTGACCACGCGTCAAGCTGCTGATGGGGCAC AAATCGTCCTGTGACCACGCTTCAAGCTGCTGATGGGGCAC Direct Gain 0 0.85958411611377 Functional Gain 0.85958411611377 - PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73686310 chr14:73686310 . . 0 21 hPsi_associated_SNPs_5877 2 Likely benign Early-Onset Familial Alzheimer Disease RCV000308794.1
185 chr14 73686310 73686310 1 + C A rs362384 73686310 - 73686290 73686330 41 AAATCGTCCTGTGACCACGCGTCAAGCTGCTGATGGGGCAC AAATCGTCCTGTGACCACGCTTCAAGCTGCTGATGGGGCAC Direct Gain 0 0.85958411611377 Functional Gain 0.85958411611377 - PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73686310 chr14:73686310 . . 0 21 hPsi_associated_SNPs_5877 2 Likely benign Dilated Cardiomyopathy, Dominant RCV000365897.1
186 chr19 11546462 11546462 1 + G A rs138496627 11546462 - 11546442 11546482 41 AGCAGCCGCGGTTCCTGCTGCAGAAAGAAAGCGGAAATTTC AGCAGCCGCGGTTCCTGCTGTAGAAAGAAAGCGGAAATTTC Direct Gain 0 0.863051818203694 Functional Gain 0.863051818203694 - PRKCSH ENSG00000130175 UTR5 Human protein_coding chr19:11546462 chr19:11546462 . . 0 21 hPsi_associated_SNPs_5975 1 Likely benign Polycystic liver disease RCV000361395.1
187 chr19 39215193 39215193 1 + G A rs145474119 39215193 - 39215173 39215213 41 TGCCTCACCTCCATCTTGGTCTGGATCCAGGGCCCCACAAC TGCCTCACCTCCATCTTGGTTTGGATCCAGGGCCCCACAAC Direct Gain 0 0.917883694147562 Functional Gain 0.917883694147562 - ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215193 chr19:39215193 synonymous SNV . 0 21 hPsi_associated_SNPs_6015 1 Benign not specified RCV000244115.1
188 chr19 39220006 39220006 1 + C A rs113969422 39220006 - 39219986 39220026 41 TCGAGGGCACCGGGCACGGCGTCAGGGCCCTGGTATGGCGC TCGAGGGCACCGGGCACGGCTTCAGGGCCCTGGTATGGCGC Direct Gain 0 0.850025415451983 Functional Gain 0.850025415451983 - ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39220006 chr19:39220006 nonsynonymous SNV 0.000 1 21 hPsi_associated_SNPs_6016 1 Benign not specified RCV000253544.1
189 chr19 39994732 39994732 1 + G A rs35380611 39994732 - 39994712 39994752 41 CACAGAAGCCATGCTCAGGGCTGCAGCCTGCTCGGCACACC CACAGAAGCCATGCTCAGGGTTGCAGCCTGCTCGGCACACC Direct Gain 0 0.853091812672311 Functional Gain 0.853091812672311 - DLL3 ENSG00000090932 CDS Human protein_coding chr19:39994732 chr19:39994732 nonsynonymous SNV 0.886 1 21 hPsi_associated_SNPs_6022 1 Benign not specified RCV000443598.1
190 chr20 57226599 57226599 1 + G A rs41296203 57226599 - 57226579 57226619 41 CCTGAGGTCTGGCTGTGACTCAGTTTCCGCACCAGAGGCCT CCTGAGGTCTGGCTGTGACTTAGTTTCCGCACCAGAGGCCT Direct Gain 0 0.930781072457246 Functional Gain 0.930781072457246 - STX16-NPEPL1 ENSG00000124222;ENSG00000254995 UTR5 Human other chr20:57226599 chr20:57226599 . . 0 21 hPsi_associated_SNPs_6081 1 Likely benign Pseudohypoaldosteronism, Type I, Dominant RCV000349157.1
191 chr20 57253404 57253404 1 + G A rs7683 57253404 - 57253384 57253424 41 TCCTTAAAACAGTTTCTAATCAGATCCGTTATTTTACCCAA TCCTTAAAACAGTTTCTAATTAGATCCGTTATTTTACCCAA Direct Gain 0 0.854954491961989 Functional Gain 0.854954491961989 - STX16-NPEPL1 ENSG00000124222 UTR3 Human protein_coding chr20:57253404 chr20:57253404 . . 0 21 hPsi_associated_SNPs_6082 1 Benign Pseudohypoaldosteronism, Type I, Dominant RCV000267008.1
192 chr20 57253640 57253640 1 + G A rs185815575 57253640 - 57253620 57253660 41 GCAGTGGTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCG GCAGTGGTGTGATCTCGGCTTACTGCAACCTCTGCCTCCCG Direct Gain 0 0.909867145603274 Functional Gain 0.909867145603274 - STX16-NPEPL1 ENSG00000124222 UTR3 Human protein_coding chr20:57253640 chr20:57253640 . . 0 21 hPsi_associated_SNPs_6083 1 Likely benign Pseudohypoaldosteronism, Type I, Dominant RCV000279185.1
193 chr20 62612524 62612524 1 + G A rs180973296 62612524 - 62612504 62612544 41 AAAGACGCAGAGACTCTAGGCTTCGACGTCCGATGCACTCC AAAGACGCAGAGACTCTAGGTTTCGACGTCCGATGCACTCC Direct Gain 0 0.917968009533499 Functional Gain 0.917968009533499 - PRPF6 ENSG00000101161 UTR5 Human protein_coding chr20:62612524 chr20:62612524 . . 0 21 hPsi_associated_SNPs_6086 1 Likely benign Retinitis Pigmentosa, Dominant RCV000262734.1
194 chr21 33032035 33032035 1 + T A rs142752986 33032035 - 33032015 33032055 41 GTTCCGAGGACTGCAACGGAAACCCCAGACGCTGCAGGAGA GTTCCGAGGACTGCAACGGATACCCCAGACGCTGCAGGAGA Direct Gain 0 0.902112317716261 Functional Gain 0.902112317716261 - SOD1 ENSG00000142168 UTR5 Human protein_coding chr21:33032035 chr21:33032035 . . 0 21 hPsi_associated_SNPs_6088 1 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000296464.1
195 chr21 46932342 46932342 1 + G A rs373537387 46932342 - 46932322 46932362 41 GCTTCCTCCGAGCCGCCGGTCCTCTCCGGCCATCCGCATCC GCTTCCTCCGAGCCGCCGGTTCTCTCCGGCCATCCGCATCC Direct Gain 0 0.860557013509232 Functional Gain 0.860557013509232 - COL18A1 ENSG00000182871 UTR3 Human protein_coding chr21:46932342 chr21:46932342 . . 0 21 hPsi_associated_SNPs_6109 1 Uncertain significance Knobloch syndrome 1 RCV000275794.1
196 chr21 46933176 46933176 1 + C A rs186538749 46933176 - 46933156 46933196 41 AGCCTCTTTGATGTGGCCGTGTTCCATCCTGGCGCTCAGCT AGCCTCTTTGATGTGGCCGTTTTCCATCCTGGCGCTCAGCT Direct Gain 0 0.906470530208023 Functional Gain 0.906470530208023 - COL18A1 ENSG00000182871 UTR3 Human protein_coding chr21:46933176 chr21:46933176 . . 0 21 hPsi_associated_SNPs_6110 1 Uncertain significance Knobloch syndrome 1 RCV000377357.1
197 chr22 21244675 21244675 1 + G A rs73162856 21244675 - 21244655 21244695 41 GGCACAGTTTGTTTCCAGCTCAACTGTGGAAATCAAAATCT GGCACAGTTTGTTTCCAGCTTAACTGTGGAAATCAAAATCT Direct Gain 0 0.890475366686578 Functional Gain 0.890475366686578 - SNAP29 ENSG00000272600 ncRNA_intronic Human antisense chr22:21244675 chr22:21244675 . . 0 21 hPsi_associated_SNPs_6120 1 Uncertain significance Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000375019.1
198 chr22 21244980 21244980 1 + G A rs9625044 21244980 - 21244960 21245000 41 GTCTCGGCTCACTGCAAGCTCTGCCTCCCAGGTTCATGCCA GTCTCGGCTCACTGCAAGCTTTGCCTCCCAGGTTCATGCCA Direct Gain 0 0.879629577383949 Functional Gain 0.879629577383949 - SNAP29 ENSG00000272600 ncRNA_intronic Human antisense chr22:21244980 chr22:21244980 . . 0 21 hPsi_associated_SNPs_6121 1 Likely benign Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000366301.1
199 chr22 21337325 21337325 1 + G A rs13054014 21337325 - 21337305 21337345 41 TTATAGGCCACCACTGTGTGCTTGCTGCGCCTGGAAAGAAA TTATAGGCCACCACTGTGTGTTTGCTGCGCCTGGAAAGAAA Direct Gain 0 0.878800216350162 Functional Gain 0.878800216350162 - LZTR1 ENSG00000099949 CDS Human protein_coding chr22:21337325 chr22:21337325 nonsynonymous SNV . 0 21 hPsi_associated_SNPs_6125 1 Benign not specified RCV000417459.1
200 chr22 24143573 24143573 1 + C A rs35502837 24143573 - 24143553 24143593 41 TCTGCACCATCAGACTGGCTGTGGCCCACTCATGTGAAACT TCTGCACCATCAGACTGGCTTTGGCCCACTCATGTGAAACT Direct Gain 0 0.860201265086902 Functional Gain 0.860201265086902 - SMARCB1 ENSG00000099956 intronic Human protein_coding chr22:24143573 chr22:24143573 . . 0 21 hPsi_associated_SNPs_6127 1 not provided not specified RCV000119895.1
201 chrX 135288657 135288657 1 + G A rs140149764 135288657 - 135288637 135288677 41 AGGCAGCAGTGGTGGCCATCCTTTTGCACATACTTCTTCCC AGGCAGCAGTGGTGGCCATCTTTTTGCACATACTTCTTCCC Direct Gain 0 0.928401652925631 Functional Gain 0.928401652925631 - FHL1 ENSG00000022267 CDS Human protein_coding chrX:135288657 chrX:135288657 synonymous SNV . 0 21 hPsi_associated_SNPs_6204 1 Uncertain significance not specified RCV000330640.2
202 chr13 32900267 32900267 1 + C A COAD 32900267 - 32900247 32900287 41 CTGACTTATCTCTTTGTGGTGTTACATGTGTACATTGTAGA CTGACTTATCTCTTTGTGGTTTTACATGTGTACATTGTAGA Direct Gain 0 0.912821474918171 Functional Gain 0.912821474918171 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32900267 chr13:32900267 nonsynonymous SNV 0.975 3 21 hPsi_associated_SNPs_6886 4 Uncertain significance not specified RCV000044442.6
203 chr13 32900267 32900267 1 + C A COAD 32900267 - 32900247 32900287 41 CTGACTTATCTCTTTGTGGTGTTACATGTGTACATTGTAGA CTGACTTATCTCTTTGTGGTTTTACATGTGTACATTGTAGA Direct Gain 0 0.912821474918171 Functional Gain 0.912821474918171 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32900267 chr13:32900267 nonsynonymous SNV 0.975 3 21 hPsi_associated_SNPs_6886 4 other Breast-ovarian cancer, familial 2 RCV000113613.3
204 chr13 32900267 32900267 1 + C A COAD 32900267 - 32900247 32900287 41 CTGACTTATCTCTTTGTGGTGTTACATGTGTACATTGTAGA CTGACTTATCTCTTTGTGGTTTTACATGTGTACATTGTAGA Direct Gain 0 0.912821474918171 Functional Gain 0.912821474918171 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32900267 chr13:32900267 nonsynonymous SNV 0.975 3 21 hPsi_associated_SNPs_6886 4 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000195370.2
205 chr13 32900267 32900267 1 + C A COAD 32900267 - 32900247 32900287 41 CTGACTTATCTCTTTGTGGTGTTACATGTGTACATTGTAGA CTGACTTATCTCTTTGTGGTTTTACATGTGTACATTGTAGA Direct Gain 0 0.912821474918171 Functional Gain 0.912821474918171 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32900267 chr13:32900267 nonsynonymous SNV 0.975 3 21 hPsi_associated_SNPs_6886 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000213276.1
206 chr13 32906689 32906689 1 + G A DLBC 32906689 - 32906669 32906709 41 GGATCAGTATCATTTGGTTCCACTTCAGATACAAATGAGTA GGATCAGTATCATTTGGTTCTACTTCAGATACAAATGAGTA Direct Gain 0 0.876267480955548 Functional Gain 0.876267480955548 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906689 chr13:32906689 synonymous SNV . 0 21 hPsi_associated_SNPs_7001 1 Likely benign Breast-ovarian cancer, familial 2 RCV000495027.2
207 chr16 30723672 30723672 1 + G A HNSC 30723672 - 30723652 30723692 41 GCAAGAATGCCATTAAGCTTCTTCTCATACATGGTAACCAG GCAAGAATGCCATTAAGCTTTTTCTCATACATGGTAACCAG Direct Gain 0 0.917213565738788 Functional Gain 0.917213565738788 - SRCAP ENSG00000080603 CDS Human protein_coding chr16:30723672 chr16:30723672 synonymous SNV . 0 21 hPsi_associated_SNPs_7271 1 Uncertain significance Floating-Harbor syndrome RCV000273836.1
208 chr10 99344566 99344566 1 + G A LGG 99344566 - 99344546 99344586 41 CACAGGGGGGTAGATACCCGCAATGTCCACCTTCTTCCCCT CACAGGGGGGTAGATACCCGTAATGTCCACCTTCTTCCCCT Direct Gain 0 0.907313801666201 Functional Gain 0.907313801666201 - HOGA1 ENSG00000155252;ENSG00000241935;ENSG00000249967 CDS Human other chr10:99344566 chr10:99344566 nonsynonymous SNV 0.198 1 21 hPsi_associated_SNPs_7360 1 Uncertain significance not provided RCV000415756.1
209 chr13 32907209 32907209 1 + G A LGG 32907209 - 32907189 32907229 41 ACTTTCAGAGGCTTCAGTTTCTTTTTTAAAGTTTGGATCAG ACTTTCAGAGGCTTCAGTTTTTTTTTTAAAGTTTGGATCAG Direct Gain 0 0.912864811990132 Functional Gain 0.912864811990132 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907209 chr13:32907209 nonsynonymous SNV 0.153 0 21 hPsi_associated_SNPs_7374 3 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000168550.2
210 chr13 32907209 32907209 1 + G A LGG 32907209 - 32907189 32907229 41 ACTTTCAGAGGCTTCAGTTTCTTTTTTAAAGTTTGGATCAG ACTTTCAGAGGCTTCAGTTTTTTTTTTAAAGTTTGGATCAG Direct Gain 0 0.912864811990132 Functional Gain 0.912864811990132 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907209 chr13:32907209 nonsynonymous SNV 0.153 0 21 hPsi_associated_SNPs_7374 3 Uncertain significance Breast-ovarian cancer, familial 2 RCV000210974.1
211 chr13 32907209 32907209 1 + G A LGG 32907209 - 32907189 32907229 41 ACTTTCAGAGGCTTCAGTTTCTTTTTTAAAGTTTGGATCAG ACTTTCAGAGGCTTCAGTTTTTTTTTTAAAGTTTGGATCAG Direct Gain 0 0.912864811990132 Functional Gain 0.912864811990132 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907209 chr13:32907209 nonsynonymous SNV 0.153 0 21 hPsi_associated_SNPs_7374 3 Uncertain significance not specified RCV000502252.1
212 chr6 157256605 157256605 1 + G A LGG 157256605 - 157256585 157256625 41 GTTCCATAGCCTTCCTGAGACATGTCCTAAAAAAAAACACA GTTCCATAGCCTTCCTGAGATATGTCCTAAAAAAAAACACA Direct Gain 0 0.942758027358609 Functional Gain 0.942758027358609 - ARID1B ENSG00000049618 CDS Human protein_coding chr6:157256605 chr6:157256605 nonsynonymous SNV 1.000 1 21 hPsi_associated_SNPs_7403 1 Likely benign not specified RCV000192963.1
213 chr1 237656263 237656263 1 + G A OV 237656263 - 237656243 237656283 41 AACACAGAGTGAGCACAAGACATCCAGAACCTGAAAAGAGA AACACAGAGTGAGCACAAGATATCCAGAACCTGAAAAGAGA Direct Gain 0 0.888071148900519 Functional Gain 0.888071148900519 - RYR2 ENSG00000198626 CDS Human protein_coding chr1:237656263 chr1:237656263 nonsynonymous SNV 0.119 2 21 hPsi_associated_SNPs_8071 1 Uncertain significance not specified RCV000036710.2
214 chr13 32930714 32930714 1 + G A SKCM 32930714 - 32930694 32930734 41 ACACGCAGAGGGAACTTGGCCTCCTACTGCTGCTTTCAGAG ACACGCAGAGGGAACTTGGCTTCCTACTGCTGCTTTCAGAG Direct Gain 0 0.940439286398348 Functional Gain 0.940439286398348 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32930714 chr13:32930714 nonsynonymous SNV 0.186 1 21 hPsi_associated_SNPs_8338 2 Uncertain significance Breast-ovarian cancer, familial 2 RCV000077000.2
215 chr13 32930714 32930714 1 + G A SKCM 32930714 - 32930694 32930734 41 ACACGCAGAGGGAACTTGGCCTCCTACTGCTGCTTTCAGAG ACACGCAGAGGGAACTTGGCTTCCTACTGCTGCTTTCAGAG Direct Gain 0 0.940439286398348 Functional Gain 0.940439286398348 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32930714 chr13:32930714 nonsynonymous SNV 0.186 1 21 hPsi_associated_SNPs_8338 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000218797.1
216 chr6 52343999 52343999 1 + C A UCEC 52343999 - 52343979 52344019 41 CTGGGGCCATAGTAGACAGGGTTGTCCACTGTAGAGTATGG CTGGGGCCATAGTAGACAGGTTTGTCCACTGTAGAGTATGG Direct Gain 0 0.866034746200881 Functional Gain 0.866034746200881 - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343999 chr6:52343999 nonsynonymous SNV 0.440 1 21 hPsi_associated_SNPs_9391 1 Uncertain significance not specified RCV000187367.1
217 chr13 32911683 32911683 1 + C A UCEC 32911683 - 32911663 32911703 41 GTGCAGATACAGTATTAATTGACTGAGGCTTGCTCAGTTTC GTGCAGATACAGTATTAATTTACTGAGGCTTGCTCAGTTTC Direct Gain 0 0.876722654540398 Functional Gain 0.876722654540398 - BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911683 chr13:32911683 stopgain 0.107 0 21 hPsi_associated_SNPs_9639 1 Pathogenic Hereditary breast and ovarian cancer syndrome RCV000456624.1