3875 chr1 7797503 7797503 1 + C G rs41278952 7797503 + 7797483 7797523 41 CAGGCTCAGCTGGGACAGAACCCCAGAATCCACTGTCCTGC CAGGCTCAGCTGGGACAGAAGCCCAGAATCCACTGTCCTGC Direct Loss 1 0.576534748345861 1 0.127528578042984 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control CAMTA1 ENSG00000171735 CDS Human protein_coding chr1:7797503 chr1:7797503 nonsynonymous SNV 0.997 1 21 hm5C_associated_SNPs_5 1 Likely benign not specified RCV000116537.2
3875 chr1 12009955 12009955 1 + C T rs7529452 12009955 + 12009935 12009975 41 GAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCA GAGGATCTGGTCATTCTCTTTGCAGACAGGTAGGTGGGTCA Direct Loss 1 0.550409589449126 1 0.919054985046387 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12009955 chr1:12009955 synonymous SNV . 0 21 hm5C_associated_SNPs_6 2 Benign not specified RCV000243254.2
3875 chr1 12009955 12009955 1 + C T rs7529452 12009955 + 12009935 12009975 41 GAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCA GAGGATCTGGTCATTCTCTTTGCAGACAGGTAGGTGGGTCA Direct Loss 1 0.550409589449126 1 0.919054985046387 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12009955 chr1:12009955 synonymous SNV . 0 21 hm5C_associated_SNPs_6 2 Benign Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000370739.1
3875 chr1 26135615 26135615 1 + C T rs34177164 26135615 + 26135595 26135635 41 GCCTGCCTGACTGCCATCAGCGACTTCTACTACACTGTGAT GCCTGCCTGACTGCCATCAGTGACTTCTACTACACTGTGAT Direct Loss 1 0.248048278636271 1 0.0870510935783386 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26135615 chr1:26135615 synonymous SNV . 0 21 hm5C_associated_SNPs_18 1 Likely benign not specified RCV000179509.2
3875 chr1 55529491 55529491 1 + C T rs182138201 55529491 + 55529471 55529511 41 TGCCAGGAAGCTCCCTCCCTCACTGTGGGGCATTTCACCAT TGCCAGGAAGCTCCCTCCCTTACTGTGGGGCATTTCACCAT Direct Loss 1 0.509937678919024 1 0.0440004467964172 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PCSK9 ENSG00000169174 UTR3 Human protein_coding chr1:55529491 chr1:55529491 . . 0 21 hm5C_associated_SNPs_27 2 Uncertain significance Familial hypobetalipoproteinemia RCV000301062.1
3875 chr1 55529491 55529491 1 + C T rs182138201 55529491 + 55529471 55529511 41 TGCCAGGAAGCTCCCTCCCTCACTGTGGGGCATTTCACCAT TGCCAGGAAGCTCCCTCCCTTACTGTGGGGCATTTCACCAT Direct Loss 1 0.509937678919024 1 0.0440004467964172 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PCSK9 ENSG00000169174 UTR3 Human protein_coding chr1:55529491 chr1:55529491 . . 0 21 hm5C_associated_SNPs_27 2 Uncertain significance Familial hypercholesterolemia RCV000406581.1
3875 chr1 93297617 93297617 1 + C G rs116168890 93297617 + 93297597 93297637 41 CCTTTTCCCACCCCCTAGCGCCGCTGGGCCTGCAGGTCTCT CCTTTTCCCACCCCCTAGCGGCGCTGGGCCTGCAGGTCTCT Direct Loss 1 0.360916099492776 1 0.0547218918800354 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74771;RNA-BisSeq;293T;Control RPL5 ENSG00000122406 UTR5 Human protein_coding chr1:93297617 chr1:93297617 . . 0 21 hm5C_associated_SNPs_33 1 Likely benign Diamond-Blackfan anemia RCV000364295.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193789 + 10193769 10193809 41 AGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTT AGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTT Direct Loss 1 0.806335121114353 1 0.038818895816803 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193789 chr3:10193789 . . 0 21 hm5C_associated_SNPs_89 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 45565503 45565503 1 + C T rs143838895 45565503 + 45565483 45565523 41 CCTTAGCAAGCCTCTCAGAGCGTCATTCTCCACAGCCCCGA CCTTAGCAAGCCTCTCAGAGTGTCATTCTCCACAGCCCCGA Direct Loss 1 0.551988631373439 1 0.0562140047550201 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LARS2 ENSG00000011376 CDS Human protein_coding chr3:45565503 chr3:45565503 synonymous SNV . 0 21 hm5C_associated_SNPs_95 1 other not specified RCV000220812.2
3875 chr3 128631476 128631476 1 + C T rs373417322 128631476 + 128631456 128631496 41 GGGACAGTGTCCCCTGCTACCGCCCGCCCCTACCCATGGCC GGGACAGTGTCCCCTGCTACTGCCCGCCCCTACCCATGGCC Direct Loss 1 0.60744008658381 1 0.613554060459137 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ACAD9 ENSG00000177646 UTR3 Human protein_coding chr3:128631476 chr3:128631476 . 0.000 0 21 hm5C_associated_SNPs_96 1 Uncertain significance Acyl-CoA dehydrogenase family, member 9, deficiency of RCV000325928.1
3875 chr3 193336676 193336676 1 + C T rs34307082 193336676 + 193336656 193336696 41 AGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTG AGGTTCTCCGGAAGAAACGGTGTTTAGAGCAACAGATCGTG Direct Loss 1 0.0516646716317907 1 0.0363451540470123 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control OPA1 ENSG00000198836 CDS Human protein_coding chr3:193336676 chr3:193336676 nonsynonymous SNV 0.973 1 21 hm5C_associated_SNPs_107 2 Benign not specified RCV000081770.7
3875 chr3 193336676 193336676 1 + C T rs34307082 193336676 + 193336656 193336696 41 AGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTG AGGTTCTCCGGAAGAAACGGTGTTTAGAGCAACAGATCGTG Direct Loss 1 0.0516646716317907 1 0.0363451540470123 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control OPA1 ENSG00000198836 CDS Human protein_coding chr3:193336676 chr3:193336676 nonsynonymous SNV 0.973 1 21 hm5C_associated_SNPs_107 2 Likely benign Optic Atrophy, Dominant RCV000363524.1
3875 chr4 126238305 126238305 1 + C A rs191329848 126238305 + 126238285 126238325 41 TGCAAGACATTAATGACAACCCCCCGGTTTTTGGCAGTTCT TGCAAGACATTAATGACAACACCCCGGTTTTTGGCAGTTCT Direct Loss 1 0.0377364029427588 1 0.181630700826645 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control FAT4 ENSG00000196159 CDS Human protein_coding chr4:126238305 chr4:126238305 nonsynonymous SNV 0.912 3 21 hm5C_associated_SNPs_117 1 Benign not specified RCV000421415.1
3875 chr5 149754325 149754325 1 + C T rs114326915 149754325 + 149754305 149754345 41 GGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAAT GGGGAAGCGGGAGGAGGACTTGCAGAGCAGCAGCGAGGAAT Direct Loss 1 0.700206838084404 1 0.354074597358704 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754325 chr5:149754325 nonsynonymous SNV 0.001 0 21 hm5C_associated_SNPs_129 1 Likely benign Treacher Collins Syndrome, Dominant RCV000327503.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611569 + 1611549 1611589 41 CCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCAC CCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCAC Direct Loss 1 0.216249166913696 1 0.136122494935989 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611569 chr6:1611569 nonsynonymous SNV 0.012 1 21 hm5C_associated_SNPs_142 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611569 + 1611549 1611589 41 CCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCAC CCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCAC Direct Loss 1 0.216249166913696 1 0.136122494935989 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611569 chr6:1611569 nonsynonymous SNV 0.012 1 21 hm5C_associated_SNPs_142 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611569 + 1611549 1611589 41 CCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCAC CCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCAC Direct Loss 1 0.216249166913696 1 0.136122494935989 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611569 chr6:1611569 nonsynonymous SNV 0.012 1 21 hm5C_associated_SNPs_142 3 Pathogenic not provided RCV000162086.1
3875 chr6 30887972 30887972 1 + C T rs2285319 30887972 + 30887952 30887992 41 GAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCA GAGGATGGGACCATGACCTCTCTCTGCGGGGACTGGCTGCA Direct Loss 1 0.121220371930809 1 0.352237701416016 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VARS2 ENSG00000137411 CDS Human protein_coding chr6:30887972 chr6:30887972 synonymous SNV . 0 21 hm5C_associated_SNPs_202 1 Benign not specified RCV000432737.1
3875 chr6 170176647 170176647 1 + C T rs4716399 170176647 + 170176627 170176667 41 CTGGTTGTGCTCCGAAGCATCAGCGAACAGTGCCGCCGTGT CTGGTTGTGCTCCGAAGCATTAGCGAACAGTGCCGCCGTGT Direct Loss 1 0.85035935243197 1 0.754449427127838 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ERMARD ENSG00000130023 CDS Human protein_coding chr6:170176647 chr6:170176647 synonymous SNV . 0 21 hm5C_associated_SNPs_221 1 Benign not specified RCV000437515.1
3875 chr7 75933439 75933439 1 + C T rs528301561 75933439 + 75933419 75933459 41 GTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGC GTCACCTTCGAGTCGCGGGCTCAGCTTGGGGGCCCAGAAGC Direct Loss 1 0.304395535334542 1 0.37987893819809 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933439 chr7:75933439 synonymous SNV . 0 21 hm5C_associated_SNPs_238 1 Benign Charcot-Marie-Tooth disease type 2F RCV000233138.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459703 + 142459683 142459723 41 TTCATCAATGCAGCCAAGATCATCCGCCACCCCCAATACGA TTCATCAATGCAGCCAAGATTATCCGCCACCCCCAATACGA Direct Loss 1 0.320498880670947 1 0.0913821458816528 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459703 chr7:142459703 synonymous SNV . 0 21 hm5C_associated_SNPs_253 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr8 74893419 74893419 1 + C G rs61732273 74893419 + 74893399 74893439 41 GTTTCTCTTATTCTACGAGTCTGATTGGCCTTACATTTCTG GTTTCTCTTATTCTACGAGTGTGATTGGCCTTACATTTCTG Direct Loss 1 0.307973998155865 1 0.174936920404434 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM70 ENSG00000175606 CDS Human protein_coding chr8:74893419 chr8:74893419 nonsynonymous SNV 0.313 0 21 hm5C_associated_SNPs_262 2 other not specified RCV000118640.3
3875 chr8 74893419 74893419 1 + C G rs61732273 74893419 + 74893399 74893439 41 GTTTCTCTTATTCTACGAGTCTGATTGGCCTTACATTTCTG GTTTCTCTTATTCTACGAGTGTGATTGGCCTTACATTTCTG Direct Loss 1 0.307973998155865 1 0.174936920404434 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM70 ENSG00000175606 CDS Human protein_coding chr8:74893419 chr8:74893419 nonsynonymous SNV 0.313 0 21 hm5C_associated_SNPs_262 2 Likely benign Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000274135.1
3875 chr9 103002451 103002451 1 + C T rs2491097 103002451 + 103002431 103002471 41 CGTGGTTGATGTCTTGACCTCATATGAAAGCTGCAATATAA CGTGGTTGATGTCTTGACCTTATATGAAAGCTGCAATATAA Direct Loss 1 0.152696013678458 1 0.518760621547699 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control INVS ENSG00000119509 CDS Human protein_coding chr9:103002451 chr9:103002451 nonsynonymous SNV 0.982 3 21 hm5C_associated_SNPs_278 2 Benign not specified RCV000081631.5
3875 chr9 103002451 103002451 1 + C T rs2491097 103002451 + 103002431 103002471 41 CGTGGTTGATGTCTTGACCTCATATGAAAGCTGCAATATAA CGTGGTTGATGTCTTGACCTTATATGAAAGCTGCAATATAA Direct Loss 1 0.152696013678458 1 0.518760621547699 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control INVS ENSG00000119509 CDS Human protein_coding chr9:103002451 chr9:103002451 nonsynonymous SNV 0.982 3 21 hm5C_associated_SNPs_278 2 Benign Nephronophthisis RCV000473554.1
3875 chr11 34969150 34969150 1 + C T rs34582941 34969150 + 34969130 34969170 41 GATGGAATCTTGGCCAAAATCGTGGTAAGTTTTTATTTTAA GATGGAATCTTGGCCAAAATTGTGGTAAGTTTTTATTTTAA Direct Loss 1 0.691472600926877 1 0.833375513553619 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PDHX ENSG00000110435 CDS Human protein_coding chr11:34969150 chr11:34969150 synonymous SNV . 0 21 hm5C_associated_SNPs_317 2 Benign not specified RCV000127411.1
3875 chr11 34969150 34969150 1 + C T rs34582941 34969150 + 34969130 34969170 41 GATGGAATCTTGGCCAAAATCGTGGTAAGTTTTTATTTTAA GATGGAATCTTGGCCAAAATTGTGGTAAGTTTTTATTTTAA Direct Loss 1 0.691472600926877 1 0.833375513553619 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PDHX ENSG00000110435 CDS Human protein_coding chr11:34969150 chr11:34969150 synonymous SNV . 0 21 hm5C_associated_SNPs_317 2 Likely benign Pyruvate dehydrogenase complex deficiency RCV000307758.1
3875 chr11 75280006 75280006 1 + C T rs61733248 75280006 + 75279986 75280026 41 CTCTACAACTACTACGACGACGAGAAGGAAAAGCTGCAAAT CTCTACAACTACTACGACGATGAGAAGGAAAAGCTGCAAAT Direct Loss 1 0.770487771515279 1 0.570597887039185 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75280006 chr11:75280006 synonymous SNV . 0 21 hm5C_associated_SNPs_336 2 Benign not specified RCV000178158.1
3875 chr11 75280006 75280006 1 + C T rs61733248 75280006 + 75279986 75280026 41 CTCTACAACTACTACGACGACGAGAAGGAAAAGCTGCAAAT CTCTACAACTACTACGACGATGAGAAGGAAAAGCTGCAAAT Direct Loss 1 0.770487771515279 1 0.570597887039185 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75280006 chr11:75280006 synonymous SNV . 0 21 hm5C_associated_SNPs_336 2 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000388996.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237839 + 108237819 108237859 41 ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC ATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGC Direct Loss 1 0.494457865196052 1 0.453790605068207 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237839 chr11:108237839 . . 0 21 hm5C_associated_SNPs_337 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 118307316 118307316 1 + C G rs9332745 118307316 + 118307296 118307336 41 GCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGG GCGCCGGGGCCTAGGGGGCGGCCCGCGGCAACGCGTCCCGG Direct Loss 1 0.536440011429464 1 0.406542778015137 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307316 chr11:118307316 nonsynonymous SNV 0.998 0 21 hm5C_associated_SNPs_339 2 Benign not specified RCV000146147.1
3875 chr11 118307316 118307316 1 + C G rs9332745 118307316 + 118307296 118307336 41 GCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGG GCGCCGGGGCCTAGGGGGCGGCCCGCGGCAACGCGTCCCGG Direct Loss 1 0.536440011429464 1 0.406542778015137 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307316 chr11:118307316 nonsynonymous SNV 0.998 0 21 hm5C_associated_SNPs_339 2 Likely benign not provided RCV000442939.1
3875 chr11 118307385 118307385 1 + C T rs9332747 118307385 + 118307365 118307405 41 CGGCGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTG CGGCGGTGGCGGCCCCGGGGTGCCCCCCTCCCCCCCGGCTG Direct Loss 1 0.488350144959657 1 0.29071456193924 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307385 chr11:118307385 nonsynonymous SNV 0.998 2 21 hm5C_associated_SNPs_340 1 Benign not specified RCV000239337.1
3875 chr11 118955679 118955679 1 + C T rs589925 118955679 + 118955659 118955699 41 GGTACTCGCCGGCCGGAGCCCCCGGCTTCCCGGGGCCGGGG GGTACTCGCCGGCCGGAGCCTCCGGCTTCCCGGGGCCGGGG Direct Loss 1 0.73608368071021 1 0.776944637298584 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control HMBS ENSG00000256269 UTR5 Human protein_coding chr11:118955679 chr11:118955679 . . 0 21 hm5C_associated_SNPs_341 1 Benign Acute intermittent porphyria RCV000283859.1
3875 chr13 28494258 28494258 1 + C T rs193922351 28494258 + 28494238 28494278 41 GGCTCCCGGCTCCCGGTGCCCAATCCCGGGCCGCAGCCATG GGCTCCCGGCTCCCGGTGCCTAATCCCGGGCCGCAGCCATG Direct Loss 1 0.458577959765937 1 0.0522485375404358 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PDX1 ENSG00000247381 ncRNA_intronic Human antisense chr13:28494258 chr13:28494258 . . 0 21 hm5C_associated_SNPs_377 2 Uncertain significance Maturity-onset diabetes of the young, type 4 RCV000030073.1
3875 chr13 28494258 28494258 1 + C T rs193922351 28494258 + 28494238 28494278 41 GGCTCCCGGCTCCCGGTGCCCAATCCCGGGCCGCAGCCATG GGCTCCCGGCTCCCGGTGCCTAATCCCGGGCCGCAGCCATG Direct Loss 1 0.458577959765937 1 0.0522485375404358 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PDX1 ENSG00000247381 ncRNA_intronic Human antisense chr13:28494258 chr13:28494258 . . 0 21 hm5C_associated_SNPs_377 2 Likely benign not specified RCV000425057.1
3875 chr14 102499701 102499701 1 + C T rs75075497 102499701 + 102499681 102499721 41 GACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCG GACAACCAGCAGAAGGCCAATGAGGTGGAGCAGATGATCCG Direct Loss 1 0.308522776532691 1 0.741722762584686 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102499701 chr14:102499701 synonymous SNV . 0 21 hm5C_associated_SNPs_393 2 Benign not specified RCV000433680.1
3875 chr14 102499701 102499701 1 + C T rs75075497 102499701 + 102499681 102499721 41 GACAACCAGCAGAAGGCCAACGAGGTGGAGCAGATGATCCG GACAACCAGCAGAAGGCCAATGAGGTGGAGCAGATGATCCG Direct Loss 1 0.308522776532691 1 0.741722762584686 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102499701 chr14:102499701 synonymous SNV . 0 21 hm5C_associated_SNPs_393 2 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000477281.1
3875 chr14 105177427 105177427 1 + C T rs59751492 105177427 + 105177407 105177447 41 CCCTCCCAGGGCAGCCACACCGGTGACGCCGACGGCTTCAA CCCTCCCAGGGCAGCCACACTGGTGACGCCGACGGCTTCAA Direct Loss 1 0.459860251902584 1 0.752070784568787 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105177427 chr14:105177427 synonymous SNV . 0 21 hm5C_associated_SNPs_394 2 Benign not specified RCV000244475.2
3875 chr14 105177427 105177427 1 + C T rs59751492 105177427 + 105177407 105177447 41 CCCTCCCAGGGCAGCCACACCGGTGACGCCGACGGCTTCAA CCCTCCCAGGGCAGCCACACTGGTGACGCCGACGGCTTCAA Direct Loss 1 0.459860251902584 1 0.752070784568787 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105177427 chr14:105177427 synonymous SNV . 0 21 hm5C_associated_SNPs_394 2 Benign Focal segmental glomerulosclerosis RCV000298384.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859364 + 4859344 4859384 41 CCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAA CCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGCCTGCAA Direct Loss 1 0.263267100538497 1 0.300458490848541 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859364 chr17:4859364 synonymous SNV . 0 21 hm5C_associated_SNPs_452 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859364 + 4859344 4859384 41 CCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAA CCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGCCTGCAA Direct Loss 1 0.263267100538497 1 0.300458490848541 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859364 chr17:4859364 synonymous SNV . 0 21 hm5C_associated_SNPs_452 2 Benign not specified RCV000425564.1
3875 chr17 7491331 7491331 1 + C T rs545206972 7491331 + 7491311 7491351 41 TGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAGG TGGGACTGTCTCCCGGACCCTAGTGCTGGGGTGGGGGAAGG Direct Loss 1 0.640431686029065 1 0.305141448974609 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MPDU1 ENSG00000129255 UTR3 Human protein_coding chr17:7491331 chr17:7491331 . . 0 21 hm5C_associated_SNPs_457 1 Uncertain significance Congenital disorder of glycosylation RCV000337854.1
3875 chr17 15902823 15902823 1 + G C rs200004394 15902823 - 15902803 15902843 41 GAGCGCGCGAAGTACGGGACCGAGGTCGTGTGTGGCTGCGC GAGCGCGCGAAGTACGGGACGGAGGTCGTGTGTGGCTGCGC Direct Loss 1 0.900267266095562 1 0.804172158241272 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control TTC19 ENSG00000011295;ENSG00000214941 CDS Human other chr17:15902823 chr17:15902823 nonsynonymous SNV . 0 21 hm5C_associated_SNPs_462 2 Benign not specified RCV000125730.1
3875 chr17 15902823 15902823 1 + G C rs200004394 15902823 - 15902803 15902843 41 GAGCGCGCGAAGTACGGGACCGAGGTCGTGTGTGGCTGCGC GAGCGCGCGAAGTACGGGACGGAGGTCGTGTGTGGCTGCGC Direct Loss 1 0.900267266095562 1 0.804172158241272 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control TTC19 ENSG00000011295;ENSG00000214941 CDS Human other chr17:15902823 chr17:15902823 nonsynonymous SNV . 0 21 hm5C_associated_SNPs_462 2 Uncertain significance Mitochondrial complex III deficiency RCV000351760.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942324 + 10942304 10942344 41 TAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTC TAGGCCCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATTC Direct Loss 1 0.549533699216791 1 0.78659987449646 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942324 chr19:10942324 . . 0 21 hm5C_associated_SNPs_512 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000288132.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942324 + 10942304 10942344 41 TAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTC TAGGCCCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATTC Direct Loss 1 0.549533699216791 1 0.78659987449646 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942324 chr19:10942324 . . 0 21 hm5C_associated_SNPs_512 2 Likely benign Centronuclear Myopathy, Dominant RCV000406251.1
3875 chr19 11145691 11145691 1 + C T rs28997582 11145691 + 11145671 11145711 41 TCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGAC TCGTGGATCATCAAGGACGATGCGGAGGTGGAGCGGCTGAC Direct Loss 1 0.693944100888278 1 0.496320158243179 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145691 chr19:11145691 synonymous SNV . 0 21 hm5C_associated_SNPs_516 2 Benign not specified RCV000114305.3
3875 chr19 11145691 11145691 1 + C T rs28997582 11145691 + 11145671 11145711 41 TCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGAC TCGTGGATCATCAAGGACGATGCGGAGGTGGAGCGGCTGAC Direct Loss 1 0.693944100888278 1 0.496320158243179 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145691 chr19:11145691 synonymous SNV . 0 21 hm5C_associated_SNPs_516 2 Benign Coffin-Siris syndrome RCV000343711.1
3875 chr19 11243411 11243411 1 + C A rs55971831 11243411 + 11243391 11243431 41 TCCGTCTCAAAAAAAAAAAACAAAAAAAAACCATGCATGGT TCCGTCTCAAAAAAAAAAAAAAAAAAAAAACCATGCATGGT Direct Loss 1 0.630357029944163 1 0.700996279716492 experiment 1 Functional Loss 31061524;GSE122260;BS-seq with improved protocol;HEK293T;Control LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11243411 chr19:11243411 . . 0 21 hm5C_associated_SNPs_517 1 Likely benign Familial hypercholesterolemia RCV000397548.1
3875 chr20 62567038 62567038 1 + C T rs11554630 62567038 + 62567018 62567058 41 CCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGCGGCACC CCTCCAGAAGGGGCTGGGCCTGGGGTCCTGCAGGCGGCACC Direct Loss 1 0.88244822464344 1 0.880392968654633 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567038 chr20:62567038 . . 0 21 hm5C_associated_SNPs_562 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000278391.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572581 + 18572561 18572601 41 GGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGGTTCATGCCATTCTCCTGGCTCAGCCTCCCGAGTAGCTG Direct Loss 1 0.264424559088629 1 0.0641841292381287 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572581 chr22:18572581 . . 0 21 hm5C_associated_SNPs_572 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 21213632 21213632 1 + C G rs144160898 21213632 + 21213612 21213652 41 AAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGCAGGG AAGGTTGGGGTCGCCTCTTCGGAGGTGAGCCTGGGGCAGGG Direct Loss 1 0.942782888822422 1 0.949777185916901 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SNAP29 ENSG00000099940 CDS Human protein_coding chr22:21213632 chr22:21213632 synonymous SNV . 0 21 hm5C_associated_SNPs_575 1 Uncertain significance Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000307751.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314780 + 118314760 118314800 41 ATTTGTGGATGTAATTCACACGGATGGTGCCCCCATAGTCC ATTTGTGGATGTAATTCACATGGATGGTGCCCCCATAGTCC Direct Loss 1 0.686503580955714 1 0.286345988512039 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314780 chr10:118314780 nonsynonymous SNV 0.919 5 21 hm5C_associated_SNPs_675 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr13 48936995 48936995 1 + C T BLCA 48936995 + 48936975 48937015 41 GTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCA GTTCACCTCGAACACCCAGGTGAGGTCAGAACAGGAGTGCA Direct Loss 1 0.63140627618481 1 0.772399246692657 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control RB1 ENSG00000139687 CDS Human protein_coding chr13:48936995 chr13:48936995 stopgain 0.957 1 21 hm5C_associated_SNPs_694 3 Pathogenic Retinoblastoma RCV000114712.2
3875 chr13 48936995 48936995 1 + C T BLCA 48936995 + 48936975 48937015 41 GTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCA GTTCACCTCGAACACCCAGGTGAGGTCAGAACAGGAGTGCA Direct Loss 1 0.63140627618481 1 0.772399246692657 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control RB1 ENSG00000139687 CDS Human protein_coding chr13:48936995 chr13:48936995 stopgain 0.957 1 21 hm5C_associated_SNPs_694 3 Pathogenic not provided RCV000153808.2
3875 chr13 48936995 48936995 1 + C T BLCA 48936995 + 48936975 48937015 41 GTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCA GTTCACCTCGAACACCCAGGTGAGGTCAGAACAGGAGTGCA Direct Loss 1 0.63140627618481 1 0.772399246692657 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control RB1 ENSG00000139687 CDS Human protein_coding chr13:48936995 chr13:48936995 stopgain 0.957 1 21 hm5C_associated_SNPs_694 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000492345.1
3875 chr10 75871762 75871762 1 + C T COAD 75871762 + 75871742 75871782 41 GTCCCCCCTGACATGGAAGACGATTACGAACCTGAGCTGCT GTCCCCCCTGACATGGAAGATGATTACGAACCTGAGCTGCT Direct Loss 1 0.0943004878168048 1 0.0955229997634888 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75871762 chr10:75871762 synonymous SNV . 0 21 hm5C_associated_SNPs_815 2 Likely benign not specified RCV000152652.1
3875 chr10 75871762 75871762 1 + C T COAD 75871762 + 75871742 75871782 41 GTCCCCCCTGACATGGAAGACGATTACGAACCTGAGCTGCT GTCCCCCCTGACATGGAAGATGATTACGAACCTGAGCTGCT Direct Loss 1 0.0943004878168048 1 0.0955229997634888 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75871762 chr10:75871762 synonymous SNV . 0 21 hm5C_associated_SNPs_815 2 Likely benign Dilated cardiomyopathy 1W RCV000471848.1
3875 chr19 50905073 50905073 1 + C T HNSC 50905073 + 50905053 50905093 41 CTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTC CTGGGGGGCCCCCACCATCCTGCGGCTCCGTGCCTGTGCTC Direct Loss 1 0.89185475849083 1 0.697320520877838 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905073 chr19:50905073 nonsynonymous SNV 0.001 0 21 hm5C_associated_SNPs_999 2 Uncertain significance Colorectal cancer 10 RCV000234495.2
3875 chr19 50905073 50905073 1 + C T HNSC 50905073 + 50905053 50905093 41 CTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGCTC CTGGGGGGCCCCCACCATCCTGCGGCTCCGTGCCTGTGCTC Direct Loss 1 0.89185475849083 1 0.697320520877838 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905073 chr19:50905073 nonsynonymous SNV 0.001 0 21 hm5C_associated_SNPs_999 2 Uncertain significance not specified RCV000483550.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946953 + 135946933 135946973 41 CCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCAC CCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCAC Direct Loss 1 0.552703001239643 1 0.88446831703186 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946953 chr9:135946953 synonymous SNV . 0 21 hm5C_associated_SNPs_1058 1 Benign not specified RCV000116662.1
3875 chr17 4905834 4905834 1 + C T LUAD 4905834 + 4905814 4905854 41 GTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGGC GTCGGGGTTCTCTGCGGGTCTGGGAGCACCCCATCCTGGGC Direct Loss 1 0.899572967625281 1 0.902289867401123 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4905834 chr17:4905834 nonsynonymous SNV 1.000 4 21 hm5C_associated_SNPs_1113 1 Pathogenic Ataxia, spastic, 2, autosomal recessive RCV000087324.4
3875 chr2 48033370 48033370 1 + C T LUSC 48033370 + 48033350 48033390 41 TACTGCAACATTTGATGGGACGGCAATAGCAAATGCAGTTG TACTGCAACATTTGATGGGATGGCAATAGCAAATGCAGTTG Direct Loss 1 0.673797968722271 1 0.156810432672501 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48033370 chr2:48033370 nonsynonymous SNV 1.000 5 21 hm5C_associated_SNPs_1204 4 Uncertain significance Lynch syndrome RCV000074911.3
3875 chr2 48033370 48033370 1 + C T LUSC 48033370 + 48033350 48033390 41 TACTGCAACATTTGATGGGACGGCAATAGCAAATGCAGTTG TACTGCAACATTTGATGGGATGGCAATAGCAAATGCAGTTG Direct Loss 1 0.673797968722271 1 0.156810432672501 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48033370 chr2:48033370 nonsynonymous SNV 1.000 5 21 hm5C_associated_SNPs_1204 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000160696.5
3875 chr2 48033370 48033370 1 + C T LUSC 48033370 + 48033350 48033390 41 TACTGCAACATTTGATGGGACGGCAATAGCAAATGCAGTTG TACTGCAACATTTGATGGGATGGCAATAGCAAATGCAGTTG Direct Loss 1 0.673797968722271 1 0.156810432672501 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48033370 chr2:48033370 nonsynonymous SNV 1.000 5 21 hm5C_associated_SNPs_1204 4 Uncertain significance not specified RCV000212686.2
3875 chr2 48033370 48033370 1 + C T LUSC 48033370 + 48033350 48033390 41 TACTGCAACATTTGATGGGACGGCAATAGCAAATGCAGTTG TACTGCAACATTTGATGGGATGGCAATAGCAAATGCAGTTG Direct Loss 1 0.673797968722271 1 0.156810432672501 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48033370 chr2:48033370 nonsynonymous SNV 1.000 5 21 hm5C_associated_SNPs_1204 4 Uncertain significance Hereditary nonpolyposis colorectal cancer type 5 RCV000410774.1
3875 chr6 52288769 52288769 1 + C T PAAD 52288769 + 52288749 52288789 41 AGCCTTCCACAGAAGTCAGACGCTGAGCTACAGGAACGGCT AGCCTTCCACAGAAGTCAGATGCTGAGCTACAGGAACGGCT Direct Loss 1 0.268467182329738 1 0.314289271831512 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52288769 chr6:52288769 nonsynonymous SNV 0.991 4 21 hm5C_associated_SNPs_1286 1 Uncertain significance not specified RCV000187353.2
3875 chr7 142458486 142458486 1 + C T SARC 142458486 + 142458466 142458506 41 CTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTTC CTGTCCCCTACCAGGTGTCCTTGAATTCTGGCTACCACTTC Direct Loss 1 0.723466756578657 1 0.189136326313019 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458486 chr7:142458486 synonymous SNV . 0 21 hm5C_associated_SNPs_1341 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr19 42373208 42373208 1 + C T SKCM 42373208 + 42373188 42373228 41 TCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCC TCATGCCCAGCCACTTCAGCTGAGGCTCCAAGAGTGTGGCC Direct Loss 1 0.743098823083714 1 0.109712213277817 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373208 chr19:42373208 stopgain 0.999 1 21 hm5C_associated_SNPs_1396 2 Pathogenic Diamond-Blackfan anemia 1 RCV000033182.3
3875 chr19 42373208 42373208 1 + C T SKCM 42373208 + 42373188 42373228 41 TCATGCCCAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCC TCATGCCCAGCCACTTCAGCTGAGGCTCCAAGAGTGTGGCC Direct Loss 1 0.743098823083714 1 0.109712213277817 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373208 chr19:42373208 stopgain 0.999 1 21 hm5C_associated_SNPs_1396 2 Pathogenic not provided RCV000272977.1
3875 chr4 79173606 79173606 1 + C T SKCM 79173606 + 79173586 79173626 41 CTTGCAATCATGGGGAAGTCCGATGTACCCCCCAACCATGC CTTGCAATCATGGGGAAGTCTGATGTACCCCCCAACCATGC Direct Loss 1 0.201196947407031 1 0.410121470689774 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FRAS1 ENSG00000138759 CDS Human protein_coding chr4:79173606 chr4:79173606 stopgain 0.134 0 21 hm5C_associated_SNPs_1424 1 Pathogenic Cryptophthalmos syndrome RCV000178998.1
3875 chr19 11215952 11215952 1 + C T SKCM 11215952 + 11215932 11215972 41 ACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCA ACGATGGGAAGTGCATCTCTTGGCAGTTCGTCTGTGACTCA Direct Loss 1 0.796912744916317 1 0.739658236503601 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LDLR ENSG00000130164 CDS Human protein_coding chr19:11215952 chr19:11215952 nonsynonymous SNV 0.002 3 21 hm5C_associated_SNPs_1515 2 Likely pathogenic Familial hypercholesterolemia RCV000238243.1
3875 chr19 11215952 11215952 1 + C T SKCM 11215952 + 11215932 11215972 41 ACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCA ACGATGGGAAGTGCATCTCTTGGCAGTTCGTCTGTGACTCA Direct Loss 1 0.796912744916317 1 0.739658236503601 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LDLR ENSG00000130164 CDS Human protein_coding chr19:11215952 chr19:11215952 nonsynonymous SNV 0.002 3 21 hm5C_associated_SNPs_1515 2 Uncertain significance not specified RCV000455754.1
3875 chr5 131973793 131973793 1 + C T UCEC 131973793 + 131973773 131973813 41 ATATTGAATACATAGAAATACGGTCTGATGCCGATGAAAAT ATATTGAATACATAGAAATATGGTCTGATGCCGATGAAAAT Direct Loss 1 0.0896428035054237 1 0.0634273290634155 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control RAD50 ENSG00000113522 CDS Human protein_coding chr5:131973793 chr5:131973793 nonsynonymous SNV 0.998 3 21 hm5C_associated_SNPs_1772 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000131805.6
3875 chr20 9376240 9376240 1 + C T UCEC 9376240 + 9376220 9376260 41 CCAGCAAACATCTTAGAGGACGATAATGAAGAGGAGATCGA CCAGCAAACATCTTAGAGGATGATAATGAAGAGGAGATCGA Direct Loss 1 0.273005652947525 1 0.110212683677673 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PLCB4 ENSG00000101333 CDS Human protein_coding chr20:9376240 chr20:9376240 synonymous SNV . 0 21 hm5C_associated_SNPs_1775 1 Likely benign Auriculocondylar syndrome RCV000323757.1
3875 chr5 176710791 176710791 1 + C T UCEC 176710791 + 176710771 176710811 41 TTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCC TTCTTTTGGAATTCTAGGACTGAATCATTGATGCTGGTCCC Direct Loss 1 0.0822708852093169 1 0.386491060256958 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176710791 chr5:176710791 stopgain 0.996 1 21 hm5C_associated_SNPs_1969 2 Pathogenic Sotos syndrome 1 RCV000146902.1
3875 chr5 176710791 176710791 1 + C T UCEC 176710791 + 176710771 176710811 41 TTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCC TTCTTTTGGAATTCTAGGACTGAATCATTGATGCTGGTCCC Direct Loss 1 0.0822708852093169 1 0.386491060256958 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176710791 chr5:176710791 stopgain 0.996 1 21 hm5C_associated_SNPs_1969 2 Pathogenic not provided RCV000255064.1
3875 chr14 29236650 29236650 1 + C T UCEC 29236650 + 29236630 29236670 41 CACCACCACCACCACCATCACCACCACCCGCCGCCGCCCGC CACCACCACCACCACCATCATCACCACCCGCCGCCGCCCGC Direct Loss 1 0.222390870463373 1 0.169133514165878 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29236650 chr14:29236650 synonymous SNV . 0 21 hm5C_associated_SNPs_1979 1 Benign not specified RCV000187429.1
3875 chr1 977028 977028 1 + G T rs138031468 977045 + 977025 977065 41 GGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGG GGGTCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGG < 41bp 1 0.105624973364276 1 0.386937767267227 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:977045 chr1:977028 nonsynonymous SNV 0.003 1 4 hm5C_associated_SNPs_2127 2 Likely benign not specified RCV000243499.2
3875 chr1 977028 977028 1 + G T rs138031468 977045 + 977025 977065 41 GGGGCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGG GGGTCCGCCCGGGGTCTCCTCCTGCAGAAAGTGCGCTCCGG < 41bp 1 0.105624973364276 1 0.386937767267227 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:977045 chr1:977028 nonsynonymous SNV 0.003 1 4 hm5C_associated_SNPs_2127 2 Likely benign not provided RCV000430046.1
3875 chr1 978668 978668 1 + G A rs147346337 978683 + 978663 978703 41 GCGACGTGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATG GCGACATGTGCTGTGAAGAACGGGCAGGCAGCGTGTGAATG < 41bp 1 0.374486876527865 1 0.1955426633358 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:978683 chr1:978668 synonymous SNV . 0 6 hm5C_associated_SNPs_2128 1 Benign not specified RCV000254334.1
3875 chr1 979397 979397 1 + G A rs143324306 979380 + 979360 979400 41 GCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGC GCAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCAAGC < 41bp 1 0.422180976332881 1 0.430829286575317 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:979380 chr1:979397 nonsynonymous SNV 0.287 3 38 hm5C_associated_SNPs_2133 1 other not specified RCV000192681.2
3875 chr1 979397 979397 1 + G A rs143324306 979381 + 979361 979401 41 CAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCA CAGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCAAGCA < 41bp 1 0.388900179920644 1 0.229288667440414 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:979381 chr1:979397 nonsynonymous SNV 0.287 3 37 hm5C_associated_SNPs_2134 1 other not specified RCV000192681.2
3875 chr1 979397 979397 1 + G A rs143324306 979382 + 979362 979402 41 AGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAG AGACACAGATCGAGGAGGCCCGGGCAGGGCCGTGCAAGCAG < 41bp 1 0.63174657604807 1 0.773626565933228 experiment 0.736506847903861 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control|22344696;NO;bisulfite sequencing;HeLa;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:979382 chr1:979397 nonsynonymous SNV 0.287 3 36 hm5C_associated_SNPs_2135 1 other not specified RCV000192681.2
3875 chr1 979397 979397 1 + G A rs143324306 979391 + 979371 979411 41 TCGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCG TCGAGGAGGCCCGGGCAGGGCCGTGCAAGCAGGGTAGGCCG < 41bp 1 0.274539377492124 1 0.40522426366806 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:979391 chr1:979397 nonsynonymous SNV 0.287 3 27 hm5C_associated_SNPs_2136 1 other not specified RCV000192681.2
3875 chr1 979397 979397 1 + G A rs143324306 979392 + 979372 979412 41 CGAGGAGGCCCGGGCAGGGCCGTGCGAGCAGGGTAGGCCGG CGAGGAGGCCCGGGCAGGGCCGTGCAAGCAGGGTAGGCCGG < 41bp 1 0.262290733664326 1 0.544510841369629 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:979392 chr1:979397 nonsynonymous SNV 0.287 3 26 hm5C_associated_SNPs_2137 1 other not specified RCV000192681.2
3875 chr1 984257 984257 1 + C T rs200170414 984264 + 984244 984284 41 CAGTGCTTGGCGCCCCTGTGCCGGCCTTCGAGGGCCGCTCC CAGTGCTTGGCGCTCCTGTGCCGGCCTTCGAGGGCCGCTCC < 41bp 1 0.252973089649904 1 0.47593280673027 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133672;RNA-BisSeq;T24;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122269;BS-seq with improved protocol;Testis;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:984264 chr1:984257 synonymous SNV . 0 14 hm5C_associated_SNPs_2138 1 Likely benign not specified RCV000193826.1
3875 chr1 984302 984302 1 + T C rs9442391 984297 + 984277 984317 41 GCCGCTCCTTCCTGGCCTTCCCCACTCTCCGCGCCTACCAC GCCGCTCCTTCCTGGCCTTCCCCACCCTCCGCGCCTACCAC < 41bp 1 0.0876106532658748 1 0.344931155443192 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control AGRN ENSG00000188157 CDS Human protein_coding chr1:984297 chr1:984302 synonymous SNV . 0 26 hm5C_associated_SNPs_2142 1 Benign not specified RCV000116269.3
3875 chr1 2160676 2160676 1 + G A rs569206617 2160685 + 2160665 2160705 41 ACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCT ACGGCCGACCAACTGGAGATCCTCAAAGTCATGGGCATCCT < 41bp 1 0.183881537417263 1 0.0284508764743805 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SKI ENSG00000157933 CDS Human protein_coding chr1:2160685 chr1:2160676 synonymous SNV . 0 12 hm5C_associated_SNPs_2177 2 Benign Shprintzen-Goldberg syndrome RCV000232451.1
3875 chr1 2160676 2160676 1 + G A rs569206617 2160685 + 2160665 2160705 41 ACGGCCGACCAGCTGGAGATCCTCAAAGTCATGGGCATCCT ACGGCCGACCAACTGGAGATCCTCAAAGTCATGGGCATCCT < 41bp 1 0.183881537417263 1 0.0284508764743805 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SKI ENSG00000157933 CDS Human protein_coding chr1:2160685 chr1:2160676 synonymous SNV . 0 12 hm5C_associated_SNPs_2177 2 Likely benign not specified RCV000247169.1
3875 chr1 10440633 10440633 1 + G A rs571451087 10440619 + 10440599 10440639 41 ACTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCGTGTGCC ACTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCATGTGCC < 41bp 1 0.322630083990985 1 0.418767631053925 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440619 chr1:10440633 . . 0 35 hm5C_associated_SNPs_2239 3 Likely benign Pheochromocytoma RCV000292196.1
3875 chr1 10440633 10440633 1 + G A rs571451087 10440619 + 10440599 10440639 41 ACTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCGTGTGCC ACTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCATGTGCC < 41bp 1 0.322630083990985 1 0.418767631053925 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440619 chr1:10440633 . . 0 35 hm5C_associated_SNPs_2239 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000337061.1
3875 chr1 10440633 10440633 1 + G A rs571451087 10440619 + 10440599 10440639 41 ACTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCGTGTGCC ACTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCATGTGCC < 41bp 1 0.322630083990985 1 0.418767631053925 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440619 chr1:10440633 . . 0 35 hm5C_associated_SNPs_2239 3 Likely benign Neuroblastoma RCV000400481.1
3875 chr1 10440633 10440633 1 + G A rs571451087 10440620 + 10440600 10440640 41 CTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCGTGTGCCT CTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCATGTGCCT < 41bp 1 0.504091992585303 1 0.336893558502197 experiment 0.991816014829394 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440620 chr1:10440633 . . 0 34 hm5C_associated_SNPs_2240 3 Likely benign Pheochromocytoma RCV000292196.1
3875 chr1 10440633 10440633 1 + G A rs571451087 10440620 + 10440600 10440640 41 CTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCGTGTGCCT CTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCATGTGCCT < 41bp 1 0.504091992585303 1 0.336893558502197 experiment 0.991816014829394 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440620 chr1:10440633 . . 0 34 hm5C_associated_SNPs_2240 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000337061.1
3875 chr1 10440633 10440633 1 + G A rs571451087 10440620 + 10440600 10440640 41 CTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCGTGTGCCT CTAAAAATACAAAAAGTAGCCAGGCGTGGTGGCATGTGCCT < 41bp 1 0.504091992585303 1 0.336893558502197 experiment 0.991816014829394 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440620 chr1:10440633 . . 0 34 hm5C_associated_SNPs_2240 3 Likely benign Neuroblastoma RCV000400481.1
3875 chr1 12009956 12009956 1 + G A rs7551175 12009955 + 12009935 12009975 41 GAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCA GAGGATCTGGTCATTCTCTTCACAGACAGGTAGGTGGGTCA < 41bp 1 0.502563866326686 1 0.658891916275024 experiment 0.994872267346627 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12009955 chr1:12009956 nonsynonymous SNV 0.911 0 22 hm5C_associated_SNPs_2249 2 Benign not specified RCV000177032.3
3875 chr1 12009956 12009956 1 + G A rs7551175 12009955 + 12009935 12009975 41 GAGGATCTGGTCATTCTCTTCGCAGACAGGTAGGTGGGTCA GAGGATCTGGTCATTCTCTTCACAGACAGGTAGGTGGGTCA < 41bp 1 0.502563866326686 1 0.658891916275024 experiment 0.994872267346627 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12009955 chr1:12009956 nonsynonymous SNV 0.911 0 22 hm5C_associated_SNPs_2249 2 Benign Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000276149.1
3875 chr1 12061533 12061533 1 + G A rs41278630 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCCAGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.216461225695756 1 0.0878639221191406 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061533 nonsynonymous SNV 0.781 2 10 hm5C_associated_SNPs_2251 4 Likely benign not specified RCV000180646.4
3875 chr1 12061533 12061533 1 + G A rs41278630 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCCAGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.216461225695756 1 0.0878639221191406 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061533 nonsynonymous SNV 0.781 2 10 hm5C_associated_SNPs_2251 4 Likely benign Charcot-Marie-Tooth disease, type 2 RCV000205710.2
3875 chr1 12061533 12061533 1 + G A rs41278630 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCCAGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.216461225695756 1 0.0878639221191406 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061533 nonsynonymous SNV 0.781 2 10 hm5C_associated_SNPs_2251 4 Likely benign Hereditary motor and sensory neuropathy RCV000321170.1
3875 chr1 12061533 12061533 1 + G A rs41278630 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCCAGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.216461225695756 1 0.0878639221191406 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061533 nonsynonymous SNV 0.781 2 10 hm5C_associated_SNPs_2251 4 Likely benign Charcot-Marie-Tooth, Type 2 RCV000378117.1
3875 chr1 12061830 12061830 1 + C T rs141475476 12061838 + 12061818 12061858 41 CCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGA CCTCCTAGGGGGTGCTCTCGCAGAAGGCTTTCAAGTGAGGA < 41bp 1 0.763640993165465 1 0.678593158721924 experiment 0.472718013669069 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061838 chr1:12061830 synonymous SNV . 0 13 hm5C_associated_SNPs_2252 4 Benign not specified RCV000173866.2
3875 chr1 12061830 12061830 1 + C T rs141475476 12061838 + 12061818 12061858 41 CCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGA CCTCCTAGGGGGTGCTCTCGCAGAAGGCTTTCAAGTGAGGA < 41bp 1 0.763640993165465 1 0.678593158721924 experiment 0.472718013669069 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061838 chr1:12061830 synonymous SNV . 0 13 hm5C_associated_SNPs_2252 4 Likely benign Hereditary motor and sensory neuropathy RCV000294728.1
3875 chr1 12061830 12061830 1 + C T rs141475476 12061838 + 12061818 12061858 41 CCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGA CCTCCTAGGGGGTGCTCTCGCAGAAGGCTTTCAAGTGAGGA < 41bp 1 0.763640993165465 1 0.678593158721924 experiment 0.472718013669069 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061838 chr1:12061830 synonymous SNV . 0 13 hm5C_associated_SNPs_2252 4 Likely benign Charcot-Marie-Tooth, Type 2 RCV000401457.1
3875 chr1 12061830 12061830 1 + C T rs141475476 12061838 + 12061818 12061858 41 CCTCCTAGGGGGCGCTCTCGCAGAAGGCTTTCAAGTGAGGA CCTCCTAGGGGGTGCTCTCGCAGAAGGCTTTCAAGTGAGGA < 41bp 1 0.763640993165465 1 0.678593158721924 experiment 0.472718013669069 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061838 chr1:12061830 synonymous SNV . 0 13 hm5C_associated_SNPs_2252 4 Benign Charcot-Marie-Tooth disease, type 2 RCV000473692.1
3875 chr1 21900171 21900171 1 + A G rs3200255 21900169 + 21900149 21900189 41 CCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAG CCTCCTCAGGTCTCTTCGAGCCGGGGGACATGCAGTACGAG < 41bp 1 0.569397763140749 1 0.92684942483902 experiment 0.861204473718503 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ALPL ENSG00000162551 CDS Human protein_coding chr1:21900169 chr1:21900171 synonymous SNV . 0 23 hm5C_associated_SNPs_2440 2 Benign not specified RCV000253870.1
3875 chr1 21900171 21900171 1 + A G rs3200255 21900169 + 21900149 21900189 41 CCTCCTCAGGTCTCTTCGAGCCAGGGGACATGCAGTACGAG CCTCCTCAGGTCTCTTCGAGCCGGGGGACATGCAGTACGAG < 41bp 1 0.569397763140749 1 0.92684942483902 experiment 0.861204473718503 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ALPL ENSG00000162551 CDS Human protein_coding chr1:21900169 chr1:21900171 synonymous SNV . 0 23 hm5C_associated_SNPs_2440 2 Benign Hypophosphatasia RCV000274166.1
3875 chr1 24019194 24019194 1 + G A rs199772693 24019185 + 24019165 24019205 41 TGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAA TGTGTTGGGGAGAGTGGAGACAGACTGACACGAGCAGCCAA < 41bp 1 0.790692798623256 1 0.279988378286362 experiment 0.418614402753489 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPL11 ENSG00000142676 CDS Human protein_coding chr1:24019185 chr1:24019194 synonymous SNV . 0 30 hm5C_associated_SNPs_2575 1 Uncertain significance Diamond-Blackfan anemia RCV000381936.1
3875 chr1 26136282 26136282 1 + C T rs147587542 26136269 + 26136249 26136289 41 CATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCC CATCATCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCC < 41bp 1 0.0411652053269671 1 0.088612824678421 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136269 chr1:26136282 synonymous SNV . 0 34 hm5C_associated_SNPs_2598 2 other not specified RCV000082021.9
3875 chr1 26136282 26136282 1 + C T rs147587542 26136269 + 26136249 26136289 41 CATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCC CATCATCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCC < 41bp 1 0.0411652053269671 1 0.088612824678421 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136269 chr1:26136282 synonymous SNV . 0 34 hm5C_associated_SNPs_2598 2 Likely benign SEPN1-Related Disorders RCV000406527.1
3875 chr1 26136282 26136282 1 + C T rs147587542 26136270 + 26136250 26136290 41 ATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCG ATCATCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCCG < 41bp 1 0.126922100899751 1 0.0567625761032104 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136270 chr1:26136282 synonymous SNV . 0 33 hm5C_associated_SNPs_2599 2 other not specified RCV000082021.9
3875 chr1 26136282 26136282 1 + C T rs147587542 26136270 + 26136250 26136290 41 ATCATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCG ATCATCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCCG < 41bp 1 0.126922100899751 1 0.0567625761032104 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136270 chr1:26136282 synonymous SNV . 0 33 hm5C_associated_SNPs_2599 2 Likely benign SEPN1-Related Disorders RCV000406527.1
3875 chr1 26136282 26136282 1 + C T rs147587542 26136273 + 26136253 26136293 41 ATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCT ATCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCCGGCT < 41bp 1 0.0966846016824895 1 0.0679886937141418 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136273 chr1:26136282 synonymous SNV . 0 30 hm5C_associated_SNPs_2600 2 other not specified RCV000082021.9
3875 chr1 26136282 26136282 1 + C T rs147587542 26136273 + 26136253 26136293 41 ATCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCT ATCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCCGGCT < 41bp 1 0.0966846016824895 1 0.0679886937141418 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136273 chr1:26136282 synonymous SNV . 0 30 hm5C_associated_SNPs_2600 2 Likely benign SEPN1-Related Disorders RCV000406527.1
3875 chr1 26136282 26136282 1 + C T rs147587542 26136274 + 26136254 26136294 41 TCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTC TCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCCGGCTC < 41bp 1 0.509266004932944 1 0.080597460269928 experiment 0.981467990134112 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136274 chr1:26136282 synonymous SNV . 0 29 hm5C_associated_SNPs_2601 2 other not specified RCV000082021.9
3875 chr1 26136282 26136282 1 + C T rs147587542 26136274 + 26136254 26136294 41 TCCTCTCCAAAGACGCCACCCACGTCCGCGACTTCCGGCTC TCCTCTCCAAAGACGCCACCCACGTCCGTGACTTCCGGCTC < 41bp 1 0.509266004932944 1 0.080597460269928 experiment 0.981467990134112 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26136274 chr1:26136282 synonymous SNV . 0 29 hm5C_associated_SNPs_2601 2 Likely benign SEPN1-Related Disorders RCV000406527.1
3875 chr1 26142151 26142151 1 + C A rs183272965 26142138 + 26142118 26142158 41 TCTCATCCACCTTTGAAGACCCGTCCACGGCCACCTACATG TCTCATCCACCTTTGAAGACCCGTCCACGGCCAACTACATG < 41bp 1 0.0222084286634438 1 0.0885903537273407 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SELENON ENSG00000162430 CDS Human protein_coding chr1:26142138 chr1:26142151 nonsynonymous SNV 0.999 4 34 hm5C_associated_SNPs_2602 1 Uncertain significance not specified RCV000340120.1
3875 chr1 26142437 26142437 1 + C T rs115473437 26142417 + 26142397 26142437 41 GGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTC GGCTGACTGGGCAGAGGAACCTCTAGCTCTGACTGTCACTT < 41bp 1 0.618216141845398 1 0.677272439002991 experiment 0.763567716309205 Functional Loss 31061524;GSE122260;BS-seq with improved protocol;HEK293T;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|28418038;GSE74773;RNA-BisSeq;Huh7;Control SELENON ENSG00000162430 UTR3 Human protein_coding chr1:26142417 chr1:26142437 . . 0 41 hm5C_associated_SNPs_2604 1 Likely benign SEPN1-Related Disorders RCV000289813.1
3875 chr1 26142437 26142437 1 + C T rs115473437 26142445 + 26142425 26142465 41 CTGACTGTCACTCGGCTCTCCCTACCCATTTGGCTCTGGAA CTGACTGTCACTTGGCTCTCCCTACCCATTTGGCTCTGGAA < 41bp 1 0.0156292972377834 1 0.199934273958206 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SELENON ENSG00000162430 UTR3 Human protein_coding chr1:26142445 chr1:26142437 . . 0 13 hm5C_associated_SNPs_2605 1 Likely benign SEPN1-Related Disorders RCV000289813.1
3875 chr1 26142980 26142980 1 + G A rs80311079 26142985 + 26142965 26143005 41 TCTCTGCAGGACTGCGGGAGCCAGCGCTCCTGCCGCCCCTC TCTCTGCAGGACTGCAGGAGCCAGCGCTCCTGCCGCCCCTC < 41bp 1 0.400142304743699 1 0.735195100307465 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 UTR3 Human protein_coding chr1:26142985 chr1:26142980 . . 0 16 hm5C_associated_SNPs_2606 1 Likely benign SEPN1-Related Disorders RCV000405293.1
3875 chr1 26142989 26142989 1 + C T rs11556312 26142985 + 26142965 26143005 41 TCTCTGCAGGACTGCGGGAGCCAGCGCTCCTGCCGCCCCTC TCTCTGCAGGACTGCGGGAGCCAGTGCTCCTGCCGCCCCTC < 41bp 1 0.508614578216732 1 0.757407069206238 experiment 0.982770843566535 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SELENON ENSG00000162430 UTR3 Human protein_coding chr1:26142985 chr1:26142989 . . 0 25 hm5C_associated_SNPs_2607 1 Likely benign SEPN1-Related Disorders RCV000301368.1
3875 chr1 27023252 27023252 1 + C T rs571264557 27023263 + 27023243 27023283 41 CTCACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGA CTCACGGAGTCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGA < 41bp 1 0.797067603322929 1 0.761820554733276 experiment 0.405864793354141 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ARID1A ENSG00000117713 CDS Human protein_coding chr1:27023263 chr1:27023252 nonsynonymous SNV 1.000 0 10 hm5C_associated_SNPs_2622 1 Uncertain significance not specified RCV000503505.1
3875 chr1 27023252 27023252 1 + C T rs571264557 27023266 + 27023246 27023286 41 ACGGAGCCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGG ACGGAGTCGCCCGGCGGCGGCGGTGGCGGCAGCAGCGATGG < 41bp 1 0.684008233852097 1 0.713597238063812 experiment 0.631983532295806 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ARID1A ENSG00000117713 CDS Human protein_coding chr1:27023266 chr1:27023252 nonsynonymous SNV 1.000 0 7 hm5C_associated_SNPs_2623 1 Uncertain significance not specified RCV000503505.1
3875 chr1 45479709 45479709 1 + A G rs2228084 45479707 + 45479687 45479727 41 TCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTG TCCTCACTGATGCTCTGGTCCCGTATCTGGTAGGACAAGTG < 41bp 1 0.380126084857442 1 0.0864208042621613 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control UROD ENSG00000126088 CDS Human protein_coding chr1:45479707 chr1:45479709 synonymous SNV . 0 23 hm5C_associated_SNPs_2815 2 Benign not specified RCV000246844.1
3875 chr1 45479709 45479709 1 + A G rs2228084 45479707 + 45479687 45479727 41 TCCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTG TCCTCACTGATGCTCTGGTCCCGTATCTGGTAGGACAAGTG < 41bp 1 0.380126084857442 1 0.0864208042621613 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control UROD ENSG00000126088 CDS Human protein_coding chr1:45479707 chr1:45479709 synonymous SNV . 0 23 hm5C_associated_SNPs_2815 2 Likely benign Porphyria cutanea tarda RCV000297345.1
3875 chr1 45479709 45479709 1 + A G rs2228084 45479708 + 45479688 45479728 41 CCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGG CCTCACTGATGCTCTGGTCCCGTATCTGGTAGGACAAGTGG < 41bp 1 0.318788745423037 1 0.159823358058929 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control UROD ENSG00000126088 CDS Human protein_coding chr1:45479708 chr1:45479709 synonymous SNV . 0 22 hm5C_associated_SNPs_2816 2 Benign not specified RCV000246844.1
3875 chr1 45479709 45479709 1 + A G rs2228084 45479708 + 45479688 45479728 41 CCTCACTGATGCTCTGGTCCCATATCTGGTAGGACAAGTGG CCTCACTGATGCTCTGGTCCCGTATCTGGTAGGACAAGTGG < 41bp 1 0.318788745423037 1 0.159823358058929 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control UROD ENSG00000126088 CDS Human protein_coding chr1:45479708 chr1:45479709 synonymous SNV . 0 22 hm5C_associated_SNPs_2816 2 Likely benign Porphyria cutanea tarda RCV000297345.1
3875 chr1 45805880 45805880 1 + G A rs2275602 45805874 + 45805854 45805894 41 GAACCGCGCCAGGAGACGGACCGCAAGTCCAGCGTACCCAC GAACCGCGCCAGGAGACGGACCGCAAATCCAGCGTACCCAC < 41bp 1 0.678132701402358 1 0.0803314447402954 experiment 0.643734597195283 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control TOE1 ENSG00000132781 CDS Human protein_coding chr1:45805874 chr1:45805880 nonsynonymous SNV . 0 27 hm5C_associated_SNPs_2821 1 other not specified RCV000126892.3
3875 chr1 45973928 45973928 1 + G A rs2275276 45973929 + 45973909 45973949 41 TCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAG TCATTGCTGACTACGAGGTACACCCCAACCGACGCCCCAAG < 41bp 1 0.266807064835338 1 0.0367278158664703 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MMACHC ENSG00000132763 CDS Human protein_coding chr1:45973929 chr1:45973928 synonymous SNV . 0 20 hm5C_associated_SNPs_2823 2 Benign not specified RCV000081738.7
3875 chr1 45973928 45973928 1 + G A rs2275276 45973929 + 45973909 45973949 41 TCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAG TCATTGCTGACTACGAGGTACACCCCAACCGACGCCCCAAG < 41bp 1 0.266807064835338 1 0.0367278158664703 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MMACHC ENSG00000132763 CDS Human protein_coding chr1:45973929 chr1:45973928 synonymous SNV . 0 20 hm5C_associated_SNPs_2823 2 Benign Disorders of Intracellular Cobalamin Metabolism RCV000264092.1
3875 chr1 45975197 45975197 1 + G A rs146159774 45975198 + 45975178 45975218 41 TGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTG TGGGTTCAAGCAATTATCTACCTCAGCCTCCTGAGTAGCTG < 41bp 1 0.190060873817154 1 0.0330477058887482 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MMACHC ENSG00000132763 UTR3 Human protein_coding chr1:45975198 chr1:45975197 . . 0 20 hm5C_associated_SNPs_2824 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000269892.1
3875 chr1 45975197 45975197 1 + G A rs146159774 45975208 + 45975188 45975228 41 CAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGG CAATTATCTACCTCAGCCTCCTGAGTAGCTGGGATGACAGG < 41bp 1 0.405078951636053 1 0.194563269615173 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MMACHC ENSG00000132763 UTR3 Human protein_coding chr1:45975208 chr1:45975197 . . 0 10 hm5C_associated_SNPs_2825 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000269892.1
3875 chr1 53676448 53676448 1 + G A rs1799821 53676443 + 53676423 53676463 41 TATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACT TATCGCCAAGGATGGCTCTACTGCCATCCACTTTGAGCACT < 41bp 1 0.341882462844367 1 0.110030710697174 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CPT2 ENSG00000157184 CDS Human protein_coding chr1:53676443 chr1:53676448 nonsynonymous SNV 0.594 1 26 hm5C_associated_SNPs_2859 3 other Encephalopathy, acute, infection-induced, 4, susceptibility to RCV000023026.3
3875 chr1 53676448 53676448 1 + G A rs1799821 53676443 + 53676423 53676463 41 TATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACT TATCGCCAAGGATGGCTCTACTGCCATCCACTTTGAGCACT < 41bp 1 0.341882462844367 1 0.110030710697174 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CPT2 ENSG00000157184 CDS Human protein_coding chr1:53676443 chr1:53676448 nonsynonymous SNV 0.594 1 26 hm5C_associated_SNPs_2859 3 Benign not specified RCV000078116.6
3875 chr1 53676448 53676448 1 + G A rs1799821 53676443 + 53676423 53676463 41 TATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACT TATCGCCAAGGATGGCTCTACTGCCATCCACTTTGAGCACT < 41bp 1 0.341882462844367 1 0.110030710697174 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CPT2 ENSG00000157184 CDS Human protein_coding chr1:53676443 chr1:53676448 nonsynonymous SNV 0.594 1 26 hm5C_associated_SNPs_2859 3 Benign Carnitine palmitoyltransferase II deficiency RCV000202483.2
3875 chr1 55524222 55524222 1 + C T rs141502002 55524235 + 55524215 55524255 41 GCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG GCCTACATGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG < 41bp 1 0.168545791997513 1 0.10378897190094 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524235 chr1:55524222 nonsynonymous SNV 0.003 2 8 hm5C_associated_SNPs_2865 3 Uncertain significance not specified RCV000182576.2
3875 chr1 55524222 55524222 1 + C T rs141502002 55524235 + 55524215 55524255 41 GCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG GCCTACATGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG < 41bp 1 0.168545791997513 1 0.10378897190094 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524235 chr1:55524222 nonsynonymous SNV 0.003 2 8 hm5C_associated_SNPs_2865 3 Benign Hypercholesterolemia, autosomal dominant, 3 RCV000228895.1
3875 chr1 55524222 55524222 1 + C T rs141502002 55524235 + 55524215 55524255 41 GCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG GCCTACATGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG < 41bp 1 0.168545791997513 1 0.10378897190094 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524235 chr1:55524222 nonsynonymous SNV 0.003 2 8 hm5C_associated_SNPs_2865 3 other Familial hypercholesterolemia RCV000408878.2
3875 chr1 55524222 55524222 1 + C T rs141502002 55524236 + 55524216 55524256 41 CCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA CCTACATGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA < 41bp 1 0.502398332737606 1 0.198266088962555 experiment 0.995203334524789 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524236 chr1:55524222 nonsynonymous SNV 0.003 2 7 hm5C_associated_SNPs_2866 3 Uncertain significance not specified RCV000182576.2
3875 chr1 55524222 55524222 1 + C T rs141502002 55524236 + 55524216 55524256 41 CCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA CCTACATGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA < 41bp 1 0.502398332737606 1 0.198266088962555 experiment 0.995203334524789 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524236 chr1:55524222 nonsynonymous SNV 0.003 2 7 hm5C_associated_SNPs_2866 3 Benign Hypercholesterolemia, autosomal dominant, 3 RCV000228895.1
3875 chr1 55524222 55524222 1 + C T rs141502002 55524236 + 55524216 55524256 41 CCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA CCTACATGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA < 41bp 1 0.502398332737606 1 0.198266088962555 experiment 0.995203334524789 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524236 chr1:55524222 nonsynonymous SNV 0.003 2 7 hm5C_associated_SNPs_2866 3 other Familial hypercholesterolemia RCV000408878.2
3875 chr1 55524237 55524237 1 + G A rs562556 55524235 + 55524215 55524255 41 GCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG GCCTACACGGATGGCCACAGCCATCGCCCGCTGCGCCCCAG < 41bp 1 0.0842436065513793 1 0.0793194472789764 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524235 chr1:55524237 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_2867 3 Benign not specified RCV000182572.3
3875 chr1 55524237 55524237 1 + G A rs562556 55524235 + 55524215 55524255 41 GCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG GCCTACACGGATGGCCACAGCCATCGCCCGCTGCGCCCCAG < 41bp 1 0.0842436065513793 1 0.0793194472789764 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524235 chr1:55524237 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_2867 3 other Familial hypercholesterolemia RCV000256256.3
3875 chr1 55524237 55524237 1 + G A rs562556 55524235 + 55524215 55524255 41 GCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG GCCTACACGGATGGCCACAGCCATCGCCCGCTGCGCCCCAG < 41bp 1 0.0842436065513793 1 0.0793194472789764 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524235 chr1:55524237 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_2867 3 Likely benign Familial hypobetalipoproteinemia RCV000330942.1
3875 chr1 55524237 55524237 1 + G A rs562556 55524236 + 55524216 55524256 41 CCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA CCTACACGGATGGCCACAGCCATCGCCCGCTGCGCCCCAGA < 41bp 1 0.470897833471504 1 0.200772851705551 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524236 chr1:55524237 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_2868 3 Benign not specified RCV000182572.3
3875 chr1 55524237 55524237 1 + G A rs562556 55524236 + 55524216 55524256 41 CCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA CCTACACGGATGGCCACAGCCATCGCCCGCTGCGCCCCAGA < 41bp 1 0.470897833471504 1 0.200772851705551 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524236 chr1:55524237 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_2868 3 other Familial hypercholesterolemia RCV000256256.3
3875 chr1 55524237 55524237 1 + G A rs562556 55524236 + 55524216 55524256 41 CCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA CCTACACGGATGGCCACAGCCATCGCCCGCTGCGCCCCAGA < 41bp 1 0.470897833471504 1 0.200772851705551 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524236 chr1:55524237 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_2868 3 Likely benign Familial hypobetalipoproteinemia RCV000330942.1
3875 chr1 55524248 55524248 1 + C T rs28362268 55524235 + 55524215 55524255 41 GCCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAG GCCTACACGGATGGCCACAGCCGTCGCCCGCTGTGCCCCAG < 41bp 1 0.140401040797392 1 0.23630428314209 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524235 chr1:55524248 nonsynonymous SNV . 0 34 hm5C_associated_SNPs_2869 1 Benign Hypercholesterolemia, autosomal dominant, 3 RCV000464746.1
3875 chr1 55524248 55524248 1 + C T rs28362268 55524236 + 55524216 55524256 41 CCTACACGGATGGCCACAGCCGTCGCCCGCTGCGCCCCAGA CCTACACGGATGGCCACAGCCGTCGCCCGCTGTGCCCCAGA < 41bp 1 0.535112025612918 1 0.402252674102783 experiment 0.929775948774163 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55524236 chr1:55524248 nonsynonymous SNV . 0 33 hm5C_associated_SNPs_2870 1 Benign Hypercholesterolemia, autosomal dominant, 3 RCV000464746.1
3875 chr1 55529489 55529489 1 + C T rs145330737 55529491 + 55529471 55529511 41 TGCCAGGAAGCTCCCTCCCTCACTGTGGGGCATTTCACCAT TGCCAGGAAGCTCCCTCCTTCACTGTGGGGCATTTCACCAT < 41bp 1 0.497765279152788 1 0.139269977807999 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PCSK9 ENSG00000169174 UTR3 Human protein_coding chr1:55529491 chr1:55529489 . . 0 19 hm5C_associated_SNPs_2871 2 Uncertain significance Familial hypobetalipoproteinemia RCV000313874.1
3875 chr1 55529489 55529489 1 + C T rs145330737 55529491 + 55529471 55529511 41 TGCCAGGAAGCTCCCTCCCTCACTGTGGGGCATTTCACCAT TGCCAGGAAGCTCCCTCCTTCACTGTGGGGCATTTCACCAT < 41bp 1 0.497765279152788 1 0.139269977807999 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PCSK9 ENSG00000169174 UTR3 Human protein_coding chr1:55529491 chr1:55529489 . . 0 19 hm5C_associated_SNPs_2871 2 Uncertain significance Familial hypercholesterolemia RCV000354632.1
3875 chr1 64125368 64125368 1 + C T rs8294 64125352 + 64125332 64125372 41 ACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTACGTCC ACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTATGTCC < 41bp 1 0.724992047449505 1 0.3856440782547 experiment 0.550015905100989 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125352 chr1:64125368 . . 0 37 hm5C_associated_SNPs_2928 2 Likely benign Congenital disorder of glycosylation RCV000307972.1
3875 chr1 64125368 64125368 1 + C T rs8294 64125352 + 64125332 64125372 41 ACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTACGTCC ACTGTCATCACCTAAGAAGACAGGCCTGATGTGGTATGTCC < 41bp 1 0.724992047449505 1 0.3856440782547 experiment 0.550015905100989 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125352 chr1:64125368 . . 0 37 hm5C_associated_SNPs_2928 2 Likely benign Congenital disorder of glycosylation type 1t RCV000400984.1
3875 chr1 64125368 64125368 1 + C T rs8294 64125357 + 64125337 64125377 41 CATCACCTAAGAAGACAGGCCTGATGTGGTACGTCCCTCCA CATCACCTAAGAAGACAGGCCTGATGTGGTATGTCCCTCCA < 41bp 1 0.590843263908459 1 0.26606959104538 experiment 0.818313472183081 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125357 chr1:64125368 . . 0 32 hm5C_associated_SNPs_2929 2 Likely benign Congenital disorder of glycosylation RCV000307972.1
3875 chr1 64125368 64125368 1 + C T rs8294 64125357 + 64125337 64125377 41 CATCACCTAAGAAGACAGGCCTGATGTGGTACGTCCCTCCA CATCACCTAAGAAGACAGGCCTGATGTGGTATGTCCCTCCA < 41bp 1 0.590843263908459 1 0.26606959104538 experiment 0.818313472183081 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125357 chr1:64125368 . . 0 32 hm5C_associated_SNPs_2929 2 Likely benign Congenital disorder of glycosylation type 1t RCV000400984.1
3875 chr1 93297620 93297620 1 + C G rs143326916 93297617 + 93297597 93297637 41 CCTTTTCCCACCCCCTAGCGCCGCTGGGCCTGCAGGTCTCT CCTTTTCCCACCCCCTAGCGCCGGTGGGCCTGCAGGTCTCT < 41bp 1 0.57385647532953 1 0.296470433473587 experiment 0.85228704934094 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74771;RNA-BisSeq;293T;Control RPL5 ENSG00000122406 UTR5 Human protein_coding chr1:93297617 chr1:93297620 . . 0 24 hm5C_associated_SNPs_2960 1 Likely benign Diamond-Blackfan anemia RCV000271098.1
3875 chr1 93297630 93297630 1 + A C rs145634330 93297617 + 93297597 93297637 41 CCTTTTCCCACCCCCTAGCGCCGCTGGGCCTGCAGGTCTCT CCTTTTCCCACCCCCTAGCGCCGCTGGGCCTGCCGGTCTCT < 41bp 1 0.399073654187168 1 0.0635941326618195 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74771;RNA-BisSeq;293T;Control RPL5 ENSG00000122406 UTR5 Human protein_coding chr1:93297617 chr1:93297630 . . 0 34 hm5C_associated_SNPs_2961 1 Likely benign Diamond-Blackfan anemia RCV000294405.1
3875 chr1 93306317 93306317 1 + G A rs10874744 93306297 + 93306277 93306317 41 TGCAAACTCGATCACTAGCTCTGCGTGATGTGGCAGAAGCG TGCAAACTCGATCACTAGCTCTGCGTGATGTGGCAGAAGCA < 41bp 1 0.395552631897164 1 0.613755404949188 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SNORA66 ENSG00000207523 ncRNA_exonic Human snoRNA chr1:93306297 chr1:93306317 . . 0 41 hm5C_associated_SNPs_2970 1 Benign Diamond-Blackfan anemia RCV000273053.1
3875 chr1 116235043 116235043 1 + A G rs150705915 116235036 + 116235016 116235056 41 AGCTGCCCTGCCAAAGGAGACCAAACCATGCCAACCACGCT AGCTGCCCTGCCAAAGGAGACCAAACCGTGCCAACCACGCT < 41bp 1 0.27782562418362 1 0.436710745096207 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116235036 chr1:116235043 . . 0 28 hm5C_associated_SNPs_3028 2 Uncertain significance Caudal dysgenesis syndrome RCV000265497.1
3875 chr1 116235043 116235043 1 + A G rs150705915 116235036 + 116235016 116235056 41 AGCTGCCCTGCCAAAGGAGACCAAACCATGCCAACCACGCT AGCTGCCCTGCCAAAGGAGACCAAACCGTGCCAACCACGCT < 41bp 1 0.27782562418362 1 0.436710745096207 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116235036 chr1:116235043 . . 0 28 hm5C_associated_SNPs_3028 2 Uncertain significance Neural tube defect RCV000360154.1
3875 chr1 116235043 116235043 1 + A G rs150705915 116235037 + 116235017 116235057 41 GCTGCCCTGCCAAAGGAGACCAAACCATGCCAACCACGCTG GCTGCCCTGCCAAAGGAGACCAAACCGTGCCAACCACGCTG < 41bp 1 0.315183191343936 1 0.313429594039917 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116235037 chr1:116235043 . . 0 27 hm5C_associated_SNPs_3029 2 Uncertain significance Caudal dysgenesis syndrome RCV000265497.1
3875 chr1 116235043 116235043 1 + A G rs150705915 116235037 + 116235017 116235057 41 GCTGCCCTGCCAAAGGAGACCAAACCATGCCAACCACGCTG GCTGCCCTGCCAAAGGAGACCAAACCGTGCCAACCACGCTG < 41bp 1 0.315183191343936 1 0.313429594039917 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116235037 chr1:116235043 . . 0 27 hm5C_associated_SNPs_3029 2 Uncertain significance Neural tube defect RCV000360154.1
3875 chr1 120285546 120285546 1 + G A rs543703 120285545 + 120285525 120285565 41 GGGCTTGGTCCAAGGCACTACGCCTGTACTGCAGGGGCTCA GGGCTTGGTCCAAGGCACTACACCTGTACTGCAGGGGCTCA < 41bp 1 0.505167968799273 1 0.155221790075302 experiment 0.989664062401455 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PHGDH ENSG00000092621 CDS Human protein_coding chr1:120285545 chr1:120285546 synonymous SNV . 0 22 hm5C_associated_SNPs_3041 1 Benign Phosphoglycerate dehydrogenase deficiency RCV000331261.1
3875 chr1 120285546 120285546 1 + G A rs543703 120285547 + 120285527 120285567 41 GCTTGGTCCAAGGCACTACGCCTGTACTGCAGGGGCTCAAT GCTTGGTCCAAGGCACTACACCTGTACTGCAGGGGCTCAAT < 41bp 1 0.272631308730176 1 0.0344723165035248 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PHGDH ENSG00000092621 CDS Human protein_coding chr1:120285547 chr1:120285546 synonymous SNV . 0 20 hm5C_associated_SNPs_3042 1 Benign Phosphoglycerate dehydrogenase deficiency RCV000331261.1
3875 chr1 145507646 145507646 1 + G A rs139428292 145507631 + 145507611 145507651 41 TTTCCCGAGGTACCTAGTGTCTGAGCGGCACAGACGAGATC TTTCCCGAGGTACCTAGTGTCTGAGCGGCACAGACAAGATC < 41bp 1 0.402445173326752 1 0.387574851512909 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LIX1L-AS1 ENSG00000234222 ncRNA_exonic Human antisense chr1:145507631 chr1:145507646 . . 0 36 hm5C_associated_SNPs_3055 2 other Radial aplasia-thrombocytopenia syndrome RCV000023418.9
3875 chr1 145507646 145507646 1 + G A rs139428292 145507631 + 145507611 145507651 41 TTTCCCGAGGTACCTAGTGTCTGAGCGGCACAGACGAGATC TTTCCCGAGGTACCTAGTGTCTGAGCGGCACAGACAAGATC < 41bp 1 0.402445173326752 1 0.387574851512909 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LIX1L-AS1 ENSG00000234222 ncRNA_exonic Human antisense chr1:145507631 chr1:145507646 . . 0 36 hm5C_associated_SNPs_3055 2 Pathogenic not provided RCV000081257.4
3875 chr1 145507646 145507646 1 + G A rs139428292 145507636 + 145507616 145507656 41 CGAGGTACCTAGTGTCTGAGCGGCACAGACGAGATCTCGAT CGAGGTACCTAGTGTCTGAGCGGCACAGACAAGATCTCGAT < 41bp 1 0.576579385764312 1 0.678073644638062 experiment 0.846841228471377 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LIX1L-AS1 ENSG00000234222 ncRNA_exonic Human antisense chr1:145507636 chr1:145507646 . . 0 31 hm5C_associated_SNPs_3056 2 other Radial aplasia-thrombocytopenia syndrome RCV000023418.9
3875 chr1 145507646 145507646 1 + G A rs139428292 145507636 + 145507616 145507656 41 CGAGGTACCTAGTGTCTGAGCGGCACAGACGAGATCTCGAT CGAGGTACCTAGTGTCTGAGCGGCACAGACAAGATCTCGAT < 41bp 1 0.576579385764312 1 0.678073644638062 experiment 0.846841228471377 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LIX1L-AS1 ENSG00000234222 ncRNA_exonic Human antisense chr1:145507636 chr1:145507646 . . 0 31 hm5C_associated_SNPs_3056 2 Pathogenic not provided RCV000081257.4
3875 chr1 145509217 145509217 1 + C G rs12079762 145509206 + 145509186 145509226 41 GAAGTCCAGACCGGAGACGTCGCTGACAGGTCCTCTGTTGT GAAGTCCAGACCGGAGACGTCGCTGACAGGTGCTCTGTTGT < 41bp 1 0.180716429977014 1 0.255187481641769 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control RBM8A ENSG00000131795 UTR3 Human other chr1:145509206 chr1:145509217 . . 0 32 hm5C_associated_SNPs_3057 1 Uncertain significance not specified RCV000081256.4
3875 chr1 150470990 150470990 1 + C T rs41264465 150470979 + 150470959 150470999 41 CTCTGCACCCCAACCTCAGCCTGATGTTCGCCCACCGGCCC CTCTGCACCCCAACCTCAGCCTGATGTTCGCTCACCGGCCC < 41bp 1 0.64616877281113 1 0.423715382814407 experiment 0.70766245437774 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control TARS2 ENSG00000143374 CDS Human protein_coding chr1:150470979 chr1:150470990 synonymous SNV . 0 32 hm5C_associated_SNPs_3079 1 Likely benign not specified RCV000431433.1
3875 chr1 162725038 162725038 1 + C T rs56313008 162725020 + 162725000 162725040 41 CCCATTGTAGCCAGATTTGTCCGGTTCATTCCAGTCACCGA CCCATTGTAGCCAGATTTGTCCGGTTCATTCCAGTCACTGA < 41bp 1 0.42528842677982 1 0.767156004905701 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DDR2 ENSG00000162733 CDS Human protein_coding chr1:162725020 chr1:162725038 synonymous SNV . 0 39 hm5C_associated_SNPs_3235 1 Likely benign not specified RCV000250796.1
3875 chr1 207967325 207967325 1 + A G rs2724390 207967310 + 207967290 207967330 41 TTTTTGTTCAAAGATTAATGCCAACTCTTAAGATTATTCTT TTTTTGTTCAAAGATTAATGCCAACTCTTAAGATTGTTCTT < 41bp 1 0.0714736437141878 1 0.0860656201839447 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CD46 ENSG00000117335 UTR3 Human protein_coding chr1:207967310 chr1:207967325 . . 0 36 hm5C_associated_SNPs_3383 1 Likely benign Atypical hemolytic uremic syndrome RCV000354114.1
3875 chr1 207967325 207967325 1 + A G rs2724390 207967311 + 207967291 207967331 41 TTTTGTTCAAAGATTAATGCCAACTCTTAAGATTATTCTTT TTTTGTTCAAAGATTAATGCCAACTCTTAAGATTGTTCTTT < 41bp 1 0.198013874844999 1 0.0465032160282135 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CD46 ENSG00000117335 UTR3 Human protein_coding chr1:207967311 chr1:207967325 . . 0 35 hm5C_associated_SNPs_3384 1 Likely benign Atypical hemolytic uremic syndrome RCV000354114.1
3875 chr1 228362682 228362682 1 + G A rs2298014 228362665 + 228362645 228362685 41 CCTCACCCAGGATGAAGGCCCAGCCCTGGTGCCCGGGGGCC CCTCACCCAGGATGAAGGCCCAGCCCTGGTGCCCGGGAGCC < 41bp 1 0.479413574450011 1 0.263744354248047 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control IBA57 ENSG00000181873 CDS Human protein_coding chr1:228362665 chr1:228362682 nonsynonymous SNV 0.002 0 38 hm5C_associated_SNPs_3454 1 Benign not specified RCV000439267.1
3875 chr1 231376980 231376980 1 + G A rs113752547 231376979 + 231376959 231376999 41 CGTCCTGGCTGAGATGGCGGCGCCCGGGATCCTGTGTAGCG CGTCCTGGCTGAGATGGCGGCACCCGGGATCCTGTGTAGCG < 41bp 1 0.5909077331989 1 0.187961131334305 experiment 0.8181845336022 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control GNPAT ENSG00000116906 UTR5 Human protein_coding chr1:231376979 chr1:231376980 . . 0 22 hm5C_associated_SNPs_3482 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000369622.1
3875 chr1 231376980 231376980 1 + G A rs113752547 231376981 + 231376961 231377001 41 TCCTGGCTGAGATGGCGGCGCCCGGGATCCTGTGTAGCGGC TCCTGGCTGAGATGGCGGCACCCGGGATCCTGTGTAGCGGC < 41bp 1 0.769273684866355 1 0.481058955192566 experiment 0.461452630267291 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control GNPAT ENSG00000116906 UTR5 Human protein_coding chr1:231376981 chr1:231376980 . . 0 20 hm5C_associated_SNPs_3483 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000369622.1
3875 chr1 235577756 235577756 1 + C A rs144747353 235577765 + 235577745 235577785 41 CAGGCACCCGACAGGAGGATCCTTTATTCGTCCGAACAAGG CAGGCACCCGAAAGGAGGATCCTTTATTCGTCCGAACAAGG < 41bp 1 0.0114852832601086 1 0.0323952436447144 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control TBCE ENSG00000116957 CDS Human protein_coding chr1:235577765 chr1:235577756 nonsynonymous SNV 0.994 1 12 hm5C_associated_SNPs_3496 1 Likely benign not specified RCV000309356.1
3875 chr1 235577776 235577776 1 + C T rs62620041 235577765 + 235577745 235577785 41 CAGGCACCCGACAGGAGGATCCTTTATTCGTCCGAACAAGG CAGGCACCCGACAGGAGGATCCTTTATTCGTTCGAACAAGG < 41bp 1 0.0156332955647719 1 0.0361113548278809 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control TBCE ENSG00000116957 CDS Human protein_coding chr1:235577765 chr1:235577776 nonsynonymous SNV 0.666 4 32 hm5C_associated_SNPs_3497 2 Benign not specified RCV000354837.1
3875 chr1 235577776 235577776 1 + C T rs62620041 235577765 + 235577745 235577785 41 CAGGCACCCGACAGGAGGATCCTTTATTCGTCCGAACAAGG CAGGCACCCGACAGGAGGATCCTTTATTCGTTCGAACAAGG < 41bp 1 0.0156332955647719 1 0.0361113548278809 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control TBCE ENSG00000116957 CDS Human protein_coding chr1:235577765 chr1:235577776 nonsynonymous SNV 0.666 4 32 hm5C_associated_SNPs_3497 2 Uncertain significance Hypoparathyroidism retardation dysmorphism syndrome RCV000358245.1
3875 chr1 235600723 235600723 1 + A G rs35663526 235600742 + 235600722 235600762 41 AAGCAGAGACGGCGCGACTACTCATTATCGCCAGCATTGGC AGGCAGAGACGGCGCGACTACTCATTATCGCCAGCATTGGC < 41bp 1 0.610616063784473 1 0.0738880336284637 experiment 0.778767872431053 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TBCE ENSG00000116957 CDS Human protein_coding chr1:235600742 chr1:235600723 synonymous SNV . 0 2 hm5C_associated_SNPs_3498 1 Uncertain significance Hypoparathyroidism retardation dysmorphism syndrome RCV000341298.1
3875 chr1 235600741 235600741 1 + A G rs6666168 235600742 + 235600722 235600762 41 AAGCAGAGACGGCGCGACTACTCATTATCGCCAGCATTGGC AAGCAGAGACGGCGCGACTGCTCATTATCGCCAGCATTGGC < 41bp 1 0.534354715972389 1 0.0630007386207581 experiment 0.931290568055222 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TBCE ENSG00000116957 CDS Human protein_coding chr1:235600742 chr1:235600741 synonymous SNV . 0 20 hm5C_associated_SNPs_3499 1 Likely benign Hypoparathyroidism retardation dysmorphism syndrome RCV000393509.1
3875 chr1 236647736 236647736 1 + C T rs6428955 236647756 + 236647736 236647776 41 CGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGG TGGCAGGAACTTCAGAAACCCCCCAGCCAAGTAAGCTGTGG < 41bp 1 0.617097391452692 1 0.181532025337219 experiment 0.765805217094616 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236647756 chr1:236647736 . . 0 1 hm5C_associated_SNPs_3502 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000268785.1
3875 chr1 237058835 237058835 1 + A G rs149476106 237058834 + 237058814 237058854 41 ACCATGTGGAGACTCGCAGACATCGAGCAGTCTACAGGTAG ACCATGTGGAGACTCGCAGACGTCGAGCAGTCTACAGGTAG < 41bp 1 0.348422452658255 1 0.160982131958008 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MTR ENSG00000116984 CDS Human protein_coding chr1:237058834 chr1:237058835 nonsynonymous SNV 0.005 0 22 hm5C_associated_SNPs_3504 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000377510.1
3875 chr1 237062305 237062305 1 + A G rs1050993 237062306 + 237062286 237062326 41 CAATAGTCAGGAGAAGGTAACATTGGAGTCCTGGTTTGATT CAATAGTCAGGAGAAGGTAGCATTGGAGTCCTGGTTTGATT < 41bp 1 0.122036776663452 1 0.119083851575851 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MTR ENSG00000116984 UTR3 Human protein_coding chr1:237062306 chr1:237062305 . . 0 20 hm5C_associated_SNPs_3506 1 Benign Disorders of Intracellular Cobalamin Metabolism RCV000270883.1
3875 chr1 237062413 237062413 1 + T C rs3768159 237062419 + 237062399 237062439 41 AGATTATAAAGGTATCAGGTCTCCTAAAATTGATCTATGGA AGATTATAAAGGTACCAGGTCTCCTAAAATTGATCTATGGA < 41bp 1 0.0588362326307847 1 0.340748965740204 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient MTR ENSG00000116984 UTR3 Human protein_coding chr1:237062419 chr1:237062413 . . 0 15 hm5C_associated_SNPs_3507 1 Likely benign Disorders of Intracellular Cobalamin Metabolism RCV000271905.1
3875 chr1 237062432 237062432 1 + T C rs3768160 237062419 + 237062399 237062439 41 AGATTATAAAGGTATCAGGTCTCCTAAAATTGATCTATGGA AGATTATAAAGGTATCAGGTCTCCTAAAATTGACCTATGGA < 41bp 1 0.0576539780810871 1 0.363204151391983 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient MTR ENSG00000116984 UTR3 Human protein_coding chr1:237062419 chr1:237062432 . . 0 34 hm5C_associated_SNPs_3508 1 Likely benign Disorders of Intracellular Cobalamin Metabolism RCV000331743.1
3875 chr2 3628503 3628503 1 + C T rs191506876 3628483 + 3628463 3628503 41 TCAATTGTAAACAAAAATGACTAAATAAAAAGTATATATTC TCAATTGTAAACAAAAATGACTAAATAAAAAGTATATATTT < 41bp 1 0.492974316851397 1 0.291646659374237 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RPS7 ENSG00000171863 UTR3 Human protein_coding chr2:3628483 chr2:3628503 . . 0 41 hm5C_associated_SNPs_3591 1 Likely benign Diamond-Blackfan anemia RCV000264238.1
3875 chr2 37458898 37458898 1 + G A rs72875762 37458880 + 37458860 37458900 41 GCTGAGGTCAGGTTTGGGGCCGTTGTGTGCCGTGGCGCGCG GCTGAGGTCAGGTTTGGGGCCGTTGTGTGCCGTGGCGCACG < 41bp 1 0.54852481694585 1 0.08832186460495 experiment 0.9029503661083 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control NDUFAF7 ENSG00000003509 CDS Human protein_coding chr2:37458880 chr2:37458898 nonsynonymous SNV 0.006 2 39 hm5C_associated_SNPs_3716 1 Benign not specified RCV000127132.1
3875 chr2 46607644 46607644 1 + C T rs41281469 46607626 + 46607606 46607646 41 CCCGAGCACCGGCCCATGTCCTCCATCTTCTTTGATGCCGG CCCGAGCACCGGCCCATGTCCTCCATCTTCTTTGATGCTGG < 41bp 1 0.761394004379498 1 0.868605017662048 experiment 0.477211991241004 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control EPAS1 ENSG00000116016 CDS Human protein_coding chr2:46607626 chr2:46607644 synonymous SNV . 0 39 hm5C_associated_SNPs_3734 1 Likely benign Familial erythrocytosis RCV000403279.1
3875 chr2 48026159 48026159 1 + C G rs567785169 48026173 + 48026153 48026193 41 AAAATTCTGAATCCCAAGCCCACGTTAGTGGAGGTGGTGAT AAAATTGTGAATCCCAAGCCCACGTTAGTGGAGGTGGTGAT < 41bp 1 0.481014051426111 1 0.118831276893616 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026173 chr2:48026159 nonsynonymous SNV 0.443 1 7 hm5C_associated_SNPs_3755 2 Uncertain significance Lynch syndrome RCV000459417.1
3875 chr2 48026159 48026159 1 + C G rs567785169 48026173 + 48026153 48026193 41 AAAATTCTGAATCCCAAGCCCACGTTAGTGGAGGTGGTGAT AAAATTGTGAATCCCAAGCCCACGTTAGTGGAGGTGGTGAT < 41bp 1 0.481014051426111 1 0.118831276893616 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026173 chr2:48026159 nonsynonymous SNV 0.443 1 7 hm5C_associated_SNPs_3755 2 Uncertain significance not specified RCV000479642.1
3875 chr2 48027755 48027755 1 + T C rs2020912 48027758 + 48027738 48027778 41 AGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAA AGGGATCATGGAAGAAGCTGCTGATGGTTTTAAGTCTAAAA < 41bp 1 0.186620827903589 1 0.066417008638382 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027758 chr2:48027755 nonsynonymous SNV 0.259 1 18 hm5C_associated_SNPs_3756 6 Pathogenic Hereditary nonpolyposis colorectal cancer type 5 RCV000009486.5
3875 chr2 48027755 48027755 1 + T C rs2020912 48027758 + 48027738 48027778 41 AGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAA AGGGATCATGGAAGAAGCTGCTGATGGTTTTAAGTCTAAAA < 41bp 1 0.186620827903589 1 0.066417008638382 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027758 chr2:48027755 nonsynonymous SNV 0.259 1 18 hm5C_associated_SNPs_3756 6 Benign Lynch syndrome RCV000030264.5
3875 chr2 48027755 48027755 1 + T C rs2020912 48027758 + 48027738 48027778 41 AGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAA AGGGATCATGGAAGAAGCTGCTGATGGTTTTAAGTCTAAAA < 41bp 1 0.186620827903589 1 0.066417008638382 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027758 chr2:48027755 nonsynonymous SNV 0.259 1 18 hm5C_associated_SNPs_3756 6 Benign not provided RCV000034495.3
3875 chr2 48027755 48027755 1 + T C rs2020912 48027758 + 48027738 48027778 41 AGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAA AGGGATCATGGAAGAAGCTGCTGATGGTTTTAAGTCTAAAA < 41bp 1 0.186620827903589 1 0.066417008638382 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027758 chr2:48027755 nonsynonymous SNV 0.259 1 18 hm5C_associated_SNPs_3756 6 other not specified RCV000121581.3
3875 chr2 48027755 48027755 1 + T C rs2020912 48027758 + 48027738 48027778 41 AGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAA AGGGATCATGGAAGAAGCTGCTGATGGTTTTAAGTCTAAAA < 41bp 1 0.186620827903589 1 0.066417008638382 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027758 chr2:48027755 nonsynonymous SNV 0.259 1 18 hm5C_associated_SNPs_3756 6 Likely benign Colorectal / endometrial cancer RCV000148644.1
3875 chr2 48027755 48027755 1 + T C rs2020912 48027758 + 48027738 48027778 41 AGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAA AGGGATCATGGAAGAAGCTGCTGATGGTTTTAAGTCTAAAA < 41bp 1 0.186620827903589 1 0.066417008638382 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027758 chr2:48027755 nonsynonymous SNV 0.259 1 18 hm5C_associated_SNPs_3756 6 Benign Hereditary cancer-predisposing syndrome RCV000157763.3
3875 chr2 71780248 71780248 1 + C T rs35721373 71780268 + 71780248 71780288 41 CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA TGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA < 41bp 1 0.152049953931463 1 0.0116254687309265 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71780268 chr2:71780248 synonymous SNV . 0 1 hm5C_associated_SNPs_3792 3 other not specified RCV000080245.10
3875 chr2 71780248 71780248 1 + C T rs35721373 71780268 + 71780248 71780288 41 CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA TGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA < 41bp 1 0.152049953931463 1 0.0116254687309265 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71780268 chr2:71780248 synonymous SNV . 0 1 hm5C_associated_SNPs_3792 3 Likely benign Miyoshi myopathy RCV000262188.1
3875 chr2 71780248 71780248 1 + C T rs35721373 71780268 + 71780248 71780288 41 CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA TGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA < 41bp 1 0.152049953931463 1 0.0116254687309265 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71780268 chr2:71780248 synonymous SNV . 0 1 hm5C_associated_SNPs_3792 3 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000317599.1
3875 chr2 71780265 71780265 1 + T C rs141867897 71780268 + 71780248 71780288 41 CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA CGGGAACAAGTTCGACACGACCTGCCTGCCGCTGGCCTCCA < 41bp 1 0.113496890806506 1 0.0110599100589752 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71780268 chr2:71780265 nonsynonymous SNV 0.954 0 18 hm5C_associated_SNPs_3794 1 other not specified RCV000274204.3
3875 chr2 71780278 71780278 1 + G A rs115849497 71780268 + 71780248 71780288 41 CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA CGGGAACAAGTTCGACATGACCTGCCTGCCACTGGCCTCCA < 41bp 1 0.164895639182702 1 0.016107589006424 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71780268 chr2:71780278 synonymous SNV . 0 31 hm5C_associated_SNPs_3795 3 other not specified RCV000080246.9
3875 chr2 71780278 71780278 1 + G A rs115849497 71780268 + 71780248 71780288 41 CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA CGGGAACAAGTTCGACATGACCTGCCTGCCACTGGCCTCCA < 41bp 1 0.164895639182702 1 0.016107589006424 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71780268 chr2:71780278 synonymous SNV . 0 31 hm5C_associated_SNPs_3795 3 Uncertain significance Miyoshi myopathy RCV000332709.1
3875 chr2 71780278 71780278 1 + G A rs115849497 71780268 + 71780248 71780288 41 CGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCA CGGGAACAAGTTCGACATGACCTGCCTGCCACTGGCCTCCA < 41bp 1 0.164895639182702 1 0.016107589006424 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71780268 chr2:71780278 synonymous SNV . 0 31 hm5C_associated_SNPs_3795 3 Uncertain significance Limb-Girdle Muscular Dystrophy, Recessive RCV000386778.1
3875 chr2 71783132 71783132 1 + C T rs145007061 71783115 + 71783095 71783135 41 GAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGCGCA GAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGTGCA < 41bp 1 0.149239036943895 1 0.0575733482837677 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control DYSF ENSG00000135636 CDS Human protein_coding chr2:71783115 chr2:71783132 nonsynonymous SNV 0.821 3 38 hm5C_associated_SNPs_3797 1 Uncertain significance not specified RCV000349436.1
3875 chr2 74154160 74154160 1 + C G rs145252858 74154149 + 74154129 74154169 41 GCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAA GCCTGCACGCGGGGCGCGGGCCCCGAAGGCTGTCCATCGAA < 41bp 1 0.681706614196474 1 0.303615063428879 experiment 0.636586771607052 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DGUOK ENSG00000114956 CDS Human protein_coding chr2:74154149 chr2:74154160 synonymous SNV . 0 32 hm5C_associated_SNPs_3807 2 Benign not specified RCV000197528.1
3875 chr2 74154160 74154160 1 + C G rs145252858 74154149 + 74154129 74154169 41 GCCTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAA GCCTGCACGCGGGGCGCGGGCCCCGAAGGCTGTCCATCGAA < 41bp 1 0.681706614196474 1 0.303615063428879 experiment 0.636586771607052 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DGUOK ENSG00000114956 CDS Human protein_coding chr2:74154149 chr2:74154160 synonymous SNV . 0 32 hm5C_associated_SNPs_3807 2 Uncertain significance Mitochondrial DNA depletion syndrome RCV000270313.1
3875 chr2 74154160 74154160 1 + C G rs145252858 74154151 + 74154131 74154171 41 CTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGG CTGCACGCGGGGCGCGGGCCCCGAAGGCTGTCCATCGAAGG < 41bp 1 0.746037454300412 1 0.526952624320984 experiment 0.507925091399176 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DGUOK ENSG00000114956 CDS Human protein_coding chr2:74154151 chr2:74154160 synonymous SNV . 0 30 hm5C_associated_SNPs_3808 2 Benign not specified RCV000197528.1
3875 chr2 74154160 74154160 1 + C G rs145252858 74154151 + 74154131 74154171 41 CTGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGG CTGCACGCGGGGCGCGGGCCCCGAAGGCTGTCCATCGAAGG < 41bp 1 0.746037454300412 1 0.526952624320984 experiment 0.507925091399176 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DGUOK ENSG00000114956 CDS Human protein_coding chr2:74154151 chr2:74154160 synonymous SNV . 0 30 hm5C_associated_SNPs_3808 2 Uncertain significance Mitochondrial DNA depletion syndrome RCV000270313.1
3875 chr2 74154160 74154160 1 + C G rs145252858 74154152 + 74154132 74154172 41 TGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGC TGCACGCGGGGCGCGGGCCCCGAAGGCTGTCCATCGAAGGC < 41bp 1 0.790641637436191 1 0.77873694896698 experiment 0.418716725127618 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DGUOK ENSG00000114956 CDS Human protein_coding chr2:74154152 chr2:74154160 synonymous SNV . 0 29 hm5C_associated_SNPs_3809 2 Benign not specified RCV000197528.1
3875 chr2 74154160 74154160 1 + C G rs145252858 74154152 + 74154132 74154172 41 TGCACGCGGGGCGCGGGCCCCGAAGGCTCTCCATCGAAGGC TGCACGCGGGGCGCGGGCCCCGAAGGCTGTCCATCGAAGGC < 41bp 1 0.790641637436191 1 0.77873694896698 experiment 0.418716725127618 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DGUOK ENSG00000114956 CDS Human protein_coding chr2:74154152 chr2:74154160 synonymous SNV . 0 29 hm5C_associated_SNPs_3809 2 Uncertain significance Mitochondrial DNA depletion syndrome RCV000270313.1
3875 chr2 74756548 74756548 1 + G C rs1183739 74756536 - 74756516 74756556 41 CTGCGCCTCTTTCTCGGGATCCACGTCTTCCTGGTCAGCTG CTGCGCCTGTTTCTCGGGATCCACGTCTTCCTGGTCAGCTG < 41bp 1 0.42608100571578 1 0.0935222208499908 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control AUP1 ENSG00000115307 CDS Human protein_coding chr2:74756536 chr2:74756548 synonymous SNV . 0 9 hm5C_associated_SNPs_3816 1 Likely benign Parkinson Disease, Dominant RCV000263476.1
3875 chr2 97464936 97464936 1 + G A rs36121810 97464916 + 97464896 97464936 41 AGTACTACGCCCGCCATTACCTGTACACCCGAAATAAGCCG AGTACTACGCCCGCCATTACCTGTACACCCGAAATAAGCCA < 41bp 1 0.616429315216641 1 0.754606962203979 experiment 0.767141369566718 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CNNM4 ENSG00000158158 CDS Human protein_coding chr2:97464916 chr2:97464936 synonymous SNV . 0 41 hm5C_associated_SNPs_3832 1 Likely benign Cone-rod dystrophy amelogenesis imperfecta RCV000381281.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772840 + 99772820 99772860 41 GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTG < 41bp 1 0.308789578671637 1 0.0757335126399994 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772840 chr2:99772852 . . 0 33 hm5C_associated_SNPs_3846 1 Benign not specified RCV000433990.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772841 + 99772821 99772861 41 GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGA GGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGA < 41bp 1 0.554586170949139 1 0.152526527643204 experiment 0.890827658101722 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772841 chr2:99772852 . . 0 32 hm5C_associated_SNPs_3847 1 Benign not specified RCV000433990.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772846 + 99772826 99772866 41 AAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTA AAGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTA < 41bp 1 0.195048972000492 1 0.103624671697617 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772846 chr2:99772852 . . 0 27 hm5C_associated_SNPs_3848 1 Benign not specified RCV000433990.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772847 + 99772827 99772867 41 AGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAC AGCGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTAC < 41bp 1 0.268148740190135 1 0.303984075784683 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772847 chr2:99772852 . . 0 26 hm5C_associated_SNPs_3849 1 Benign not specified RCV000433990.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772849 + 99772829 99772869 41 CGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAG CGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAG < 41bp 1 0.421244089185736 1 0.296933591365814 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772849 chr2:99772852 . . 0 24 hm5C_associated_SNPs_3850 1 Benign not specified RCV000433990.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772850 + 99772830 99772870 41 GATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGG GATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGG < 41bp 1 0.326903620645292 1 0.417724072933197 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772850 chr2:99772852 . . 0 23 hm5C_associated_SNPs_3851 1 Benign not specified RCV000433990.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772851 + 99772831 99772871 41 ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTACAGGC ATTCTCCTGCCTCAGCCTCCCAAGTAGCTGAGATTACAGGC < 41bp 1 0.533595690621704 1 0.502003967761993 experiment 0.932808618756592 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772851 chr2:99772852 . . 0 22 hm5C_associated_SNPs_3852 1 Benign not specified RCV000433990.1
3875 chr2 99772852 99772852 1 + G A rs190816941 99772867 + 99772847 99772887 41 CTCCCGAGTAGCTGAGATTACAGGCGCCTGCCACCACGCCC CTCCCAAGTAGCTGAGATTACAGGCGCCTGCCACCACGCCC < 41bp 1 0.721866013301186 1 0.644948542118073 experiment 0.556267973397629 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772867 chr2:99772852 . . 0 6 hm5C_associated_SNPs_3853 1 Benign not specified RCV000433990.1
3875 chr2 99772875 99772875 1 + T C rs2516828 99772867 + 99772847 99772887 41 CTCCCGAGTAGCTGAGATTACAGGCGCCTGCCACCACGCCC CTCCCGAGTAGCTGAGATTACAGGCGCCCGCCACCACGCCC < 41bp 1 0.732548118223289 1 0.713768005371094 experiment 0.534903763553422 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LIPT1 ENSG00000144182;ENSG00000273155 UTR5 Human other chr2:99772867 chr2:99772875 . . 0 29 hm5C_associated_SNPs_3854 1 Benign not specified RCV000438209.1
3875 chr2 109336018 109336018 1 + C T rs79379002 109336007 + 109335987 109336027 41 TTTCCTCTTGGAAGTGGCGACTGCTGCGGGCCTGAGCGCTG TTTCCTCTTGGAAGTGGCGACTGCTGCGGGCTTGAGCGCTG < 41bp 1 0.570064120573613 1 0.234519928693771 experiment 0.859871758852773 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control RANBP2 ENSG00000153201 UTR5 Human protein_coding chr2:109336007 chr2:109336018 . . 0 32 hm5C_associated_SNPs_3877 1 Benign not specified RCV000423758.1
3875 chr2 109336018 109336018 1 + C T rs79379002 109336010 + 109335990 109336030 41 CCTCTTGGAAGTGGCGACTGCTGCGGGCCTGAGCGCTGGTC CCTCTTGGAAGTGGCGACTGCTGCGGGCTTGAGCGCTGGTC < 41bp 1 0.754590307810253 1 0.616027235984802 experiment 0.490819384379493 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control RANBP2 ENSG00000153201 UTR5 Human protein_coding chr2:109336010 chr2:109336018 . . 0 29 hm5C_associated_SNPs_3878 1 Benign not specified RCV000423758.1
3875 chr2 173366607 173366607 1 + G A rs16860616 173366597 + 173366577 173366617 41 TGATAAAGAGAGGCTTACTTCTGATGCATAGTATTGATCTA TGATAAAGAGAGGCTTACTTCTGATGCATAATATTGATCTA < 41bp 1 0.478043671196042 1 0.665200591087341 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ITGA6 ENSG00000091409 CDS Human protein_coding chr2:173366597 chr2:173366607 synonymous SNV . 0 31 hm5C_associated_SNPs_4015 1 Likely benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000353064.1
3875 chr2 207630338 207630338 1 + C T rs3762567 207630343 + 207630323 207630363 41 TCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAGTCACG TCTCGGGGAAGCTGTTATGGCTGCTCCTGTACGTAGTCACG < 41bp 1 0.422647396146504 1 0.0533406734466553 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FASTKD2 ENSG00000118246 UTR5 Human protein_coding chr2:207630343 chr2:207630338 . . 0 16 hm5C_associated_SNPs_4069 1 Likely benign Cytochrome-c oxidase deficiency RCV000283058.1
3875 chr2 207630360 207630360 1 + C T rs16838842 207630343 + 207630323 207630363 41 TCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAGTCACG TCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAGTTACG < 41bp 1 0.36595539285353 1 0.045082688331604 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FASTKD2 ENSG00000118246 UTR5 Human protein_coding chr2:207630343 chr2:207630360 . . 0 38 hm5C_associated_SNPs_4071 2 Benign not specified RCV000124988.1
3875 chr2 207630360 207630360 1 + C T rs16838842 207630343 + 207630323 207630363 41 TCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAGTCACG TCTCGGGGAAGCTGTCATGGCTGCTCCTGTACGTAGTTACG < 41bp 1 0.36595539285353 1 0.045082688331604 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FASTKD2 ENSG00000118246 UTR5 Human protein_coding chr2:207630343 chr2:207630360 . . 0 38 hm5C_associated_SNPs_4071 2 Uncertain significance Cytochrome-c oxidase deficiency RCV000394368.1
3875 chr2 211456637 211456637 1 + A G rs1047883 211456636 + 211456616 211456656 41 CATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAA CATGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCTGGAA < 41bp 1 0.262827301564102 1 0.080890417098999 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456636 chr2:211456637 nonsynonymous SNV 0.417 1 22 hm5C_associated_SNPs_4074 2 other not specified RCV000116829.5
3875 chr2 211456637 211456637 1 + A G rs1047883 211456636 + 211456616 211456656 41 CATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAA CATGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCTGGAA < 41bp 1 0.262827301564102 1 0.080890417098999 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456636 chr2:211456637 nonsynonymous SNV 0.417 1 22 hm5C_associated_SNPs_4074 2 Benign Congenital hyperammonemia, type I RCV000364698.1
3875 chr2 211456637 211456637 1 + A G rs1047883 211456638 + 211456618 211456658 41 TGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAAC TGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCTGGAAAC < 41bp 1 0.0456061948919894 1 0.0693839490413666 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456638 chr2:211456637 nonsynonymous SNV 0.417 1 20 hm5C_associated_SNPs_4075 2 other not specified RCV000116829.5
3875 chr2 211456637 211456637 1 + A G rs1047883 211456638 + 211456618 211456658 41 TGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAAC TGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCTGGAAAC < 41bp 1 0.0456061948919894 1 0.0693839490413666 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456638 chr2:211456637 nonsynonymous SNV 0.417 1 20 hm5C_associated_SNPs_4075 2 Benign Congenital hyperammonemia, type I RCV000364698.1
3875 chr2 211456639 211456639 1 + C T rs2229589 211456636 + 211456616 211456656 41 CATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAA CATGGCTATGCCTTGGACAACACTCTCCCTGCTGGCTGGAA < 41bp 1 0.106238517788067 1 0.0719398856163025 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456636 chr2:211456639 synonymous SNV . 0 24 hm5C_associated_SNPs_4076 2 other not specified RCV000116830.5
3875 chr2 211456639 211456639 1 + C T rs2229589 211456636 + 211456616 211456656 41 CATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAA CATGGCTATGCCTTGGACAACACTCTCCCTGCTGGCTGGAA < 41bp 1 0.106238517788067 1 0.0719398856163025 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456636 chr2:211456639 synonymous SNV . 0 24 hm5C_associated_SNPs_4076 2 Benign Congenital hyperammonemia, type I RCV000302372.1
3875 chr2 211456639 211456639 1 + C T rs2229589 211456638 + 211456618 211456658 41 TGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAAC TGGCTATGCCTTGGACAACACTCTCCCTGCTGGCTGGAAAC < 41bp 1 0.138701200637729 1 0.168387651443481 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456638 chr2:211456639 synonymous SNV . 0 22 hm5C_associated_SNPs_4077 2 other not specified RCV000116830.5
3875 chr2 211456639 211456639 1 + C T rs2229589 211456638 + 211456618 211456658 41 TGGCTATGCCTTGGACAACACCCTCCCTGCTGGCTGGAAAC TGGCTATGCCTTGGACAACACTCTCCCTGCTGGCTGGAAAC < 41bp 1 0.138701200637729 1 0.168387651443481 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456638 chr2:211456639 synonymous SNV . 0 22 hm5C_associated_SNPs_4077 2 Benign Congenital hyperammonemia, type I RCV000302372.1
3875 chr2 217277267 217277267 1 + G A rs79352134 217277270 + 217277250 217277290 41 AGCGCTTGAATACCCGTGGCCTAACCGTCCACTCGGAAGAC AGCGCTTGAATACCCGTAGCCTAACCGTCCACTCGGAAGAC < 41bp 1 0.19029326127645 1 0.0449472069740295 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SMARCAL1 ENSG00000235042 ncRNA_exonic Human antisense chr2:217277270 chr2:217277267 . . 0 18 hm5C_associated_SNPs_4083 1 Likely benign Schimke immunoosseous dysplasia RCV000304414.1
3875 chr2 217277267 217277267 1 + G A rs79352134 217277274 + 217277254 217277294 41 CTTGAATACCCGTGGCCTAACCGTCCACTCGGAAGACCGGT CTTGAATACCCGTAGCCTAACCGTCCACTCGGAAGACCGGT < 41bp 1 0.0915205551294675 1 0.282492578029633 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SMARCAL1 ENSG00000235042 ncRNA_exonic Human antisense chr2:217277274 chr2:217277267 . . 0 14 hm5C_associated_SNPs_4084 1 Likely benign Schimke immunoosseous dysplasia RCV000304414.1
3875 chr2 219210696 219210696 1 + C G rs115429065 219210713 + 219210693 219210733 41 GGCCCTTTGCAGTTTGCCAGCCATATTCCCATGTGATTTCC GGCGCTTTGCAGTTTGCCAGCCATATTCCCATGTGATTTCC < 41bp 1 0.165388280688098 1 0.0440897047519684 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CATIP-AS2 ENSG00000237281 ncRNA_intronic Human antisense chr2:219210713 chr2:219210696 . . 0 4 hm5C_associated_SNPs_4091 1 Likely benign Paroxysmal choreoathetosis RCV000397183.1
3875 chr2 219677673 219677673 1 + G A rs190012697 219677655 + 219677635 219677675 41 TTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCGAA TTGCTTTCACAGGGAAGAAGCTGATTGATGAGAAGCTCAAA < 41bp 1 0.267359437553986 1 0.141534835100174 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control CYP27A1 ENSG00000135929 CDS Human protein_coding chr2:219677655 chr2:219677673 nonsynonymous SNV 0.043 0 39 hm5C_associated_SNPs_4100 1 Uncertain significance Cholestanol storage disease RCV000353347.1
3875 chr2 224824695 224824695 1 + T C rs35331337 224824686 + 224824666 224824706 41 ATTGGAGCCCTGTTACAGAGCAGTGGACCTGAGAGGACTGC ATTGGAGCCCTGTTACAGAGCAGTGGACCCGAGAGGACTGC < 41bp 1 0.566039832229592 1 0.382338881492615 experiment 0.867920335540816 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control MRPL44 ENSG00000135900 CDS Human protein_coding chr2:224824686 chr2:224824695 synonymous SNV . 0 30 hm5C_associated_SNPs_4121 1 Benign not specified RCV000126801.1
3875 chr2 228148541 228148541 1 + C T rs75519005 228148543 + 228148523 228148563 41 CATTGGCCCTCCAGGGCCCCCTGGGAACCCAGGCACACCAG CATTGGCCCTCCAGGGCCTCCTGGGAACCCAGGCACACCAG < 41bp 1 0.640236684285319 1 0.630598127841949 experiment 0.719526631429363 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control COL4A3 ENSG00000169031 CDS Human protein_coding chr2:228148543 chr2:228148541 synonymous SNV . 0 19 hm5C_associated_SNPs_4126 2 Benign not specified RCV000247855.1
3875 chr2 228148541 228148541 1 + C T rs75519005 228148543 + 228148523 228148563 41 CATTGGCCCTCCAGGGCCCCCTGGGAACCCAGGCACACCAG CATTGGCCCTCCAGGGCCTCCTGGGAACCCAGGCACACCAG < 41bp 1 0.640236684285319 1 0.630598127841949 experiment 0.719526631429363 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control COL4A3 ENSG00000169031 CDS Human protein_coding chr2:228148543 chr2:228148541 synonymous SNV . 0 19 hm5C_associated_SNPs_4126 2 Likely benign Alport syndrome RCV000401257.1
3875 chr3 4856234 4856234 1 + G A rs901854 4856235 + 4856215 4856255 41 TAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAA TAGGAGATGTACTCAGGAAACCGTCCAAAGAGGTAAATTAA < 41bp 1 0.0466667053153709 1 0.454815953969955 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ITPR1 ENSG00000150995 CDS Human protein_coding chr3:4856235 chr3:4856234 synonymous SNV . 0 20 hm5C_associated_SNPs_4197 2 Likely benign not specified RCV000117305.2
3875 chr3 4856234 4856234 1 + G A rs901854 4856235 + 4856215 4856255 41 TAGGAGATGTACTCAGGAAGCCGTCCAAAGAGGTAAATTAA TAGGAGATGTACTCAGGAAACCGTCCAAAGAGGTAAATTAA < 41bp 1 0.0466667053153709 1 0.454815953969955 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ITPR1 ENSG00000150995 CDS Human protein_coding chr3:4856235 chr3:4856234 synonymous SNV . 0 20 hm5C_associated_SNPs_4197 2 Benign Spinocerebellar Ataxia, Dominant RCV000379072.1
3875 chr3 10192672 10192672 1 + G A rs1681669 10192656 + 10192636 10192676 41 GGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTC GGCGCCATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTC < 41bp 1 0.401074125868792 1 0.258765459060669 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192656 chr3:10192672 . . 0 37 hm5C_associated_SNPs_4236 1 Benign Von Hippel-Lindau syndrome RCV000346706.1
3875 chr3 10192672 10192672 1 + G A rs1681669 10192659 + 10192639 10192679 41 GCCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACG GCCATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCACG < 41bp 1 0.0983647474696938 1 0.0541943311691284 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192659 chr3:10192672 . . 0 34 hm5C_associated_SNPs_4237 1 Benign Von Hippel-Lindau syndrome RCV000346706.1
3875 chr3 10192672 10192672 1 + G A rs1681669 10192660 + 10192640 10192680 41 CCATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGT CCATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCACGT < 41bp 1 0.45711905363167 1 0.0926425457000732 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192660 chr3:10192672 . . 0 33 hm5C_associated_SNPs_4238 1 Benign Von Hippel-Lindau syndrome RCV000346706.1
3875 chr3 10192672 10192672 1 + G A rs1681669 10192662 + 10192642 10192682 41 ATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAA ATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCACGTAA < 41bp 1 0.691397166157038 1 0.121399223804474 experiment 0.617205667685924 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192662 chr3:10192672 . . 0 31 hm5C_associated_SNPs_4239 1 Benign Von Hippel-Lindau syndrome RCV000346706.1
3875 chr3 10192672 10192672 1 + G A rs1681669 10192665 + 10192645 10192685 41 TCGGCTCACTGCAACCTCTGCCTCCTGGGTTCACGTAATCC TCGGCTCACTGCAACCTCTGCCTCCTGAGTTCACGTAATCC < 41bp 1 0.0574981900069447 1 0.0970288217067719 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192665 chr3:10192672 . . 0 28 hm5C_associated_SNPs_4240 1 Benign Von Hippel-Lindau syndrome RCV000346706.1
3875 chr3 10192672 10192672 1 + G A rs1681669 10192688 + 10192668 10192708 41 CCTGGGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGG CCTGAGTTCACGTAATCCTCCTGAGTAGCTGGGATTACAGG < 41bp 1 0.58688216232847 1 0.402793765068054 experiment 0.82623567534306 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192688 chr3:10192672 . . 0 5 hm5C_associated_SNPs_4241 1 Benign Von Hippel-Lindau syndrome RCV000346706.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193785 + 10193765 10193805 41 AATCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCA AATCAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCA < 41bp 1 0.611062120907308 1 0.152463376522064 experiment 0.777875758185383 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193785 chr3:10193789 . . 0 25 hm5C_associated_SNPs_4246 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193787 + 10193767 10193807 41 TCAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACT TCAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACT < 41bp 1 0.624572853381349 1 0.100400745868683 experiment 0.750854293237303 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193787 chr3:10193789 . . 0 23 hm5C_associated_SNPs_4247 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193791 + 10193771 10193811 41 GCCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGG < 41bp 1 0.321088745775261 1 0.0405251681804657 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193791 chr3:10193789 . . 0 19 hm5C_associated_SNPs_4248 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193792 + 10193772 10193812 41 CCGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGG CCGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGG < 41bp 1 0.752737187098422 1 0.142097622156143 experiment 0.494525625803157 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193792 chr3:10193789 . . 0 18 hm5C_associated_SNPs_4249 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193799 + 10193779 10193819 41 TGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGA TGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGA < 41bp 1 0.371826343637293 1 0.100854247808456 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193799 chr3:10193789 . . 0 11 hm5C_associated_SNPs_4250 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193800 + 10193780 10193820 41 GGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAG GGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAG < 41bp 1 0.262994770215467 1 0.175430685281754 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193800 chr3:10193789 . . 0 10 hm5C_associated_SNPs_4251 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 10193789 10193789 1 + C T rs140614750 10193804 + 10193784 10193824 41 GCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGG GCTCATGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGG < 41bp 1 0.444239593484838 1 0.0583259761333466 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control VHL ENSG00000134086 UTR3 Human protein_coding chr3:10193804 chr3:10193789 . . 0 6 hm5C_associated_SNPs_4252 1 Benign Von Hippel-Lindau syndrome RCV000390342.1
3875 chr3 12531407 12531407 1 + A G rs77258715 12531390 + 12531370 12531410 41 CAATCCCTTTTGGTCAGGACCATGGTCCTCTGAAAGAATTC CAATCCCTTTTGGTCAGGACCATGGTCCTCTGAAAGAGTTC < 41bp 1 0.326016168784584 1 0.263193994760513 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control TSEN2 ENSG00000154743 CDS Human protein_coding chr3:12531390 chr3:12531407 synonymous SNV . 0 38 hm5C_associated_SNPs_4267 1 Benign not specified RCV000147740.2
3875 chr3 14183951 14183951 1 + G A rs559809675 14183965 + 14183945 14183985 41 ATCTTTGTAGTGTGTGGGATCTCTGAAGGCCCTATTTAAGT ATCTTTATAGTGTGTGGGATCTCTGAAGGCCCTATTTAAGT < 41bp 1 0.300510393463335 1 0.22804394364357 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14183965 chr3:14183951 . . 0 7 hm5C_associated_SNPs_4270 1 Uncertain significance Cardiomyopathy, ARVC RCV000321321.1
3875 chr3 14184719 14184719 1 + T C rs10468 14184725 + 14184705 14184745 41 ATTCAGAAACCGTTTTGTGCCTGCTGGGAGTAATTCCTTTA ATTCAGAAACCGTTCTGTGCCTGCTGGGAGTAATTCCTTTA < 41bp 1 0.557516844888741 1 0.0776461362838745 experiment 0.884966310222517 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184725 chr3:14184719 . . 0 15 hm5C_associated_SNPs_4271 2 Likely benign Xeroderma pigmentosum RCV000340739.1
3875 chr3 14184719 14184719 1 + T C rs10468 14184725 + 14184705 14184745 41 ATTCAGAAACCGTTTTGTGCCTGCTGGGAGTAATTCCTTTA ATTCAGAAACCGTTCTGTGCCTGCTGGGAGTAATTCCTTTA < 41bp 1 0.557516844888741 1 0.0776461362838745 experiment 0.884966310222517 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184725 chr3:14184719 . . 0 15 hm5C_associated_SNPs_4271 2 Likely benign Cardiomyopathy, ARVC RCV000372953.1
3875 chr3 31674561 31674561 1 + A G rs140420950 31674578 + 31674558 31674598 41 AGCACCTGATAACAGGGAGACATTAGATCACAAACCTCGAG AGCGCCTGATAACAGGGAGACATTAGATCACAAACCTCGAG < 41bp 1 0.232034257422413 1 0.233586996793747 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient STT3B ENSG00000163527 CDS Human protein_coding chr3:31674578 chr3:31674561 synonymous SNV . 0 4 hm5C_associated_SNPs_4304 1 Likely benign not specified RCV000444139.1
3875 chr3 32209560 32209560 1 + G A rs373602669 32209573 + 32209553 32209593 41 GTTTTGCGTATTTTCATCTGCATTCAGCTTCTTACTCTGGG GTTTTGCATATTTTCATCTGCATTCAGCTTCTTACTCTGGG < 41bp 1 0.0522453332000827 1 0.0291353166103363 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control GPD1L ENSG00000152642 UTR3 Human protein_coding chr3:32209573 chr3:32209560 . . 0 8 hm5C_associated_SNPs_4305 1 Uncertain significance Brugada syndrome RCV000279289.1
3875 chr3 37090070 37090070 1 + G T rs1800146 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTTCCTATCTTCATTCTTCGA < 41bp 1 0.158058012065076 1 0.0351168215274811 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090070 synonymous SNV . 0 23 hm5C_associated_SNPs_4322 4 Benign Lynch syndrome RCV000030219.5
3875 chr3 37090070 37090070 1 + G T rs1800146 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTTCCTATCTTCATTCTTCGA < 41bp 1 0.158058012065076 1 0.0351168215274811 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090070 synonymous SNV . 0 23 hm5C_associated_SNPs_4322 4 Benign Hereditary cancer-predisposing syndrome RCV000126778.5
3875 chr3 37090070 37090070 1 + G T rs1800146 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTTCCTATCTTCATTCTTCGA < 41bp 1 0.158058012065076 1 0.0351168215274811 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090070 synonymous SNV . 0 23 hm5C_associated_SNPs_4322 4 Benign Lynch syndrome I RCV000144610.1
3875 chr3 37090070 37090070 1 + G T rs1800146 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTTCCTATCTTCATTCTTCGA < 41bp 1 0.158058012065076 1 0.0351168215274811 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090070 synonymous SNV . 0 23 hm5C_associated_SNPs_4322 4 Benign not specified RCV000153507.7
3875 chr3 37090074 37090074 1 + A G rs55907433 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTGTCTTCATTCTTCGA < 41bp 1 0.365634652701247 1 0.0487358272075653 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090074 nonsynonymous SNV 0.999 2 27 hm5C_associated_SNPs_4323 5 Uncertain significance not provided RCV000034543.3
3875 chr3 37090074 37090074 1 + A G rs55907433 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTGTCTTCATTCTTCGA < 41bp 1 0.365634652701247 1 0.0487358272075653 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090074 nonsynonymous SNV 0.999 2 27 hm5C_associated_SNPs_4323 5 Likely benign Lynch syndrome RCV000075440.5
3875 chr3 37090074 37090074 1 + A G rs55907433 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTGTCTTCATTCTTCGA < 41bp 1 0.365634652701247 1 0.0487358272075653 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090074 nonsynonymous SNV 0.999 2 27 hm5C_associated_SNPs_4323 5 other not specified RCV000121364.3
3875 chr3 37090074 37090074 1 + A G rs55907433 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTGTCTTCATTCTTCGA < 41bp 1 0.365634652701247 1 0.0487358272075653 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090074 nonsynonymous SNV 0.999 2 27 hm5C_associated_SNPs_4323 5 Benign Hereditary cancer-predisposing syndrome RCV000130675.4
3875 chr3 37090074 37090074 1 + A G rs55907433 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTGTCTTCATTCTTCGA < 41bp 1 0.365634652701247 1 0.0487358272075653 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090074 nonsynonymous SNV 0.999 2 27 hm5C_associated_SNPs_4323 5 Likely benign Endometrial carcinoma RCV000148615.1
3875 chr3 38524742 38524742 1 + C T rs1046048 38524735 + 38524715 38524755 41 GGTGTCCCTGATTCGGAGGTCGGTCAACGGCACTACCTCGG GGTGTCCCTGATTCGGAGGTCGGTCAATGGCACTACCTCGG < 41bp 1 0.232187464498895 1 0.324655801057816 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38524735 chr3:38524742 synonymous SNV . 0 28 hm5C_associated_SNPs_4333 2 Benign not specified RCV000253566.1
3875 chr3 38524742 38524742 1 + C T rs1046048 38524735 + 38524715 38524755 41 GGTGTCCCTGATTCGGAGGTCGGTCAACGGCACTACCTCGG GGTGTCCCTGATTCGGAGGTCGGTCAATGGCACTACCTCGG < 41bp 1 0.232187464498895 1 0.324655801057816 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38524735 chr3:38524742 synonymous SNV . 0 28 hm5C_associated_SNPs_4333 2 Benign Heterotaxy syndrome RCV000291591.1
3875 chr3 39431081 39431081 1 + G A rs2270770 39431076 + 39431056 39431096 41 CTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCC CTCTGGATCTCCTTAAAACACGCCTACAAACCCTCCAGCCC < 41bp 1 0.748792351242654 1 0.163265228271484 experiment 0.502415297514693 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431076 chr3:39431081 synonymous SNV . 0 26 hm5C_associated_SNPs_4334 3 Benign not specified RCV000286235.2
3875 chr3 39431081 39431081 1 + G A rs2270770 39431076 + 39431056 39431096 41 CTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCC CTCTGGATCTCCTTAAAACACGCCTACAAACCCTCCAGCCC < 41bp 1 0.748792351242654 1 0.163265228271484 experiment 0.502415297514693 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431076 chr3:39431081 synonymous SNV . 0 26 hm5C_associated_SNPs_4334 3 Benign Hereditary sideroblastic anemia RCV000317815.1
3875 chr3 39431081 39431081 1 + G A rs2270770 39431076 + 39431056 39431096 41 CTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCC CTCTGGATCTCCTTAAAACACGCCTACAAACCCTCCAGCCC < 41bp 1 0.748792351242654 1 0.163265228271484 experiment 0.502415297514693 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431076 chr3:39431081 synonymous SNV . 0 26 hm5C_associated_SNPs_4334 3 Benign Refractory anemia with ringed sideroblasts (clinical) RCV000372560.1
3875 chr3 41275106 41275106 1 + T C rs4135379 41275104 + 41275084 41275124 41 TCACCTGTGCAGCTGGAATTCTTTCTAACCTCACTTGCAAT TCACCTGTGCAGCTGGAATTCTCTCTAACCTCACTTGCAAT < 41bp 1 0.281525328102292 1 0.355161786079407 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41275104 chr3:41275106 synonymous SNV . 0 23 hm5C_associated_SNPs_4363 1 Likely benign not specified RCV000503795.1
3875 chr3 43732421 43732421 1 + G A rs564192984 43732441 + 43732421 43732461 41 GGGCGGCCCAGTCGGCCTGTCAGCCGGCTTCGAGATAAGTC AGGCGGCCCAGTCGGCCTGTCAGCCGGCTTCGAGATAAGTC < 41bp 1 0.685538471918259 1 0.501085042953491 experiment 0.628923056163483 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ABHD5 ENSG00000011198 UTR5 Human protein_coding chr3:43732441 chr3:43732421 . . 0 1 hm5C_associated_SNPs_4365 1 Uncertain significance Triglyceride storage disease with ichthyosis RCV000379202.1
3875 chr3 47041759 47041759 1 + G A rs139822454 47041773 + 47041753 47041793 41 TCCTTCGCCACTGGATGGGCCGCGGCCCTTTCCTGCTGCTC TCCTTCACCACTGGATGGGCCGCGGCCCTTTCCTGCTGCTC < 41bp 1 0.374112464117829 1 0.492101550102234 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control NBEAL2 ENSG00000160796 CDS Human protein_coding chr3:47041773 chr3:47041759 synonymous SNV . 0 7 hm5C_associated_SNPs_4376 1 Likely benign not specified RCV000499581.1
3875 chr3 47050989 47050989 1 + C A rs111271184 47051000 + 47050980 47051020 41 GGCGGAAGTCCCGCCCCTCGCCGGCTGAGGGGCCGCCCTGA GGCGGAAGTACCGCCCCTCGCCGGCTGAGGGGCCGCCCTGA < 41bp 1 0.685570235839911 1 0.889128088951111 experiment 0.628859528320177 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133672;RNA-BisSeq;T24;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|31061524;GSE122269;BS-seq with improved protocol;Testis;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control NBEAL2 ENSG00000160796 UTR3 Human protein_coding chr3:47051000 chr3:47050989 . . 0 10 hm5C_associated_SNPs_4381 1 Benign Gray platelet syndrome RCV000382646.1
3875 chr3 58067436 58067436 1 + C T rs111433950 58067455 + 58067435 58067475 41 CCAAGCTCAAGCCGGGGGCTCCTCTCAAACCCAAACTCAAC CTAAGCTCAAGCCGGGGGCTCCTCTCAAACCCAAACTCAAC < 41bp 1 0.0156858980953096 1 0.0678444504737854 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58067455 chr3:58067436 synonymous SNV . 0 2 hm5C_associated_SNPs_4432 1 Benign not specified RCV000309159.2
3875 chr3 58067436 58067436 1 + C T rs111433950 58067456 + 58067436 58067476 41 CAAGCTCAAGCCGGGGGCTCCTCTCAAACCCAAACTCAACC TAAGCTCAAGCCGGGGGCTCCTCTCAAACCCAAACTCAACC < 41bp 1 0.0518128660244948 1 0.272881329059601 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58067456 chr3:58067436 synonymous SNV . 0 1 hm5C_associated_SNPs_4433 1 Benign not specified RCV000309159.2
3875 chr3 58092578 58092578 1 + C T rs62621999 58092593 + 58092573 58092613 41 AGCCACGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGC AGCCATGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGC < 41bp 1 0.389674697027499 1 0.358109205961227 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58092593 chr3:58092578 nonsynonymous SNV 0.393 1 6 hm5C_associated_SNPs_4434 1 Likely benign FLNB-Related Spectrum Disorders RCV000405532.1
3875 chr3 58092578 58092578 1 + C T rs62621999 58092598 + 58092578 58092618 41 CGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGCTGTGC TGGGAGGCTACAACCCTGATCTGGTGAATCAGCTGCTGTGC < 41bp 1 0.513362028857744 1 0.258530467748642 experiment 0.973275942284512 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58092598 chr3:58092578 nonsynonymous SNV 0.393 1 1 hm5C_associated_SNPs_4435 1 Likely benign FLNB-Related Spectrum Disorders RCV000405532.1
3875 chr3 58097556 58097556 1 + T G rs376893941 58097553 + 58097533 58097573 41 CCTTTCAGAGTCAAAGTTGACCCTTCCCACGATGCCAGCAA CCTTTCAGAGTCAAAGTTGACCCGTCCCACGATGCCAGCAA < 41bp 1 0.239325436221197 1 0.138468414545059 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58097553 chr3:58097556 synonymous SNV . 0 24 hm5C_associated_SNPs_4438 1 Likely benign FLNB-Related Spectrum Disorders RCV000306771.1
3875 chr3 58097556 58097556 1 + T G rs376893941 58097554 + 58097534 58097574 41 CTTTCAGAGTCAAAGTTGACCCTTCCCACGATGCCAGCAAA CTTTCAGAGTCAAAGTTGACCCGTCCCACGATGCCAGCAAA < 41bp 1 0.0302380239659586 1 0.446276485919952 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58097554 chr3:58097556 synonymous SNV . 0 23 hm5C_associated_SNPs_4439 1 Likely benign FLNB-Related Spectrum Disorders RCV000306771.1
3875 chr3 58097556 58097556 1 + T G rs376893941 58097558 + 58097538 58097578 41 CAGAGTCAAAGTTGACCCTTCCCACGATGCCAGCAAAGTGA CAGAGTCAAAGTTGACCCGTCCCACGATGCCAGCAAAGTGA < 41bp 1 0.0288242196215927 1 0.173958629369736 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58097558 chr3:58097556 synonymous SNV . 0 19 hm5C_associated_SNPs_4440 1 Likely benign FLNB-Related Spectrum Disorders RCV000306771.1
3875 chr3 58097556 58097556 1 + T G rs376893941 58097560 + 58097540 58097580 41 GAGTCAAAGTTGACCCTTCCCACGATGCCAGCAAAGTGAAG GAGTCAAAGTTGACCCGTCCCACGATGCCAGCAAAGTGAAG < 41bp 1 0.652629725942173 1 0.156654626131058 experiment 0.694740548115655 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58097560 chr3:58097556 synonymous SNV . 0 17 hm5C_associated_SNPs_4441 1 Likely benign FLNB-Related Spectrum Disorders RCV000306771.1
3875 chr3 58112440 58112440 1 + A G rs2362903 58112439 + 58112419 58112459 41 TGCTGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTA TGCTGAGTACATTCCTTTCGCGCCGGGGGATTACGATGTTA < 41bp 1 0.505898276024337 1 0.194136768579483 experiment 0.988203447951325 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112439 chr3:58112440 synonymous SNV . 0 22 hm5C_associated_SNPs_4442 2 Benign not specified RCV000242336.2
3875 chr3 58112440 58112440 1 + A G rs2362903 58112439 + 58112419 58112459 41 TGCTGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTA TGCTGAGTACATTCCTTTCGCGCCGGGGGATTACGATGTTA < 41bp 1 0.505898276024337 1 0.194136768579483 experiment 0.988203447951325 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112439 chr3:58112440 synonymous SNV . 0 22 hm5C_associated_SNPs_4442 2 Likely benign FLNB-Related Spectrum Disorders RCV000296871.1
3875 chr3 58112440 58112440 1 + A G rs2362903 58112441 + 58112421 58112461 41 CTGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTAAT CTGAGTACATTCCTTTCGCGCCGGGGGATTACGATGTTAAT < 41bp 1 0.169489164102487 1 0.375142216682434 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112441 chr3:58112440 synonymous SNV . 0 20 hm5C_associated_SNPs_4443 2 Benign not specified RCV000242336.2
3875 chr3 58112440 58112440 1 + A G rs2362903 58112441 + 58112421 58112461 41 CTGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTAAT CTGAGTACATTCCTTTCGCGCCGGGGGATTACGATGTTAAT < 41bp 1 0.169489164102487 1 0.375142216682434 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112441 chr3:58112440 synonymous SNV . 0 20 hm5C_associated_SNPs_4443 2 Likely benign FLNB-Related Spectrum Disorders RCV000296871.1
3875 chr3 58112440 58112440 1 + A G rs2362903 58112442 + 58112422 58112462 41 TGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTAATA TGAGTACATTCCTTTCGCGCCGGGGGATTACGATGTTAATA < 41bp 1 0.387542809185219 1 0.8094322681427 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112442 chr3:58112440 synonymous SNV . 0 19 hm5C_associated_SNPs_4444 2 Benign not specified RCV000242336.2
3875 chr3 58112440 58112440 1 + A G rs2362903 58112442 + 58112422 58112462 41 TGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTAATA TGAGTACATTCCTTTCGCGCCGGGGGATTACGATGTTAATA < 41bp 1 0.387542809185219 1 0.8094322681427 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112442 chr3:58112440 synonymous SNV . 0 19 hm5C_associated_SNPs_4444 2 Likely benign FLNB-Related Spectrum Disorders RCV000296871.1
3875 chr3 128445182 128445182 1 + G T rs112000804 128445198 + 128445178 128445218 41 CGGAGCCCCCAGCGCAGCGGCCGCGGTAAGCAGCGGGCCCA CGGATCCCCCAGCGCAGCGGCCGCGGTAAGCAGCGGGCCCA < 41bp 1 0.773356971246145 1 0.148245215415955 experiment 0.45328605750771 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445198 chr3:128445182 . . 0 5 hm5C_associated_SNPs_4513 2 Benign not specified RCV000127681.1
3875 chr3 128445182 128445182 1 + G T rs112000804 128445198 + 128445178 128445218 41 CGGAGCCCCCAGCGCAGCGGCCGCGGTAAGCAGCGGGCCCA CGGATCCCCCAGCGCAGCGGCCGCGGTAAGCAGCGGGCCCA < 41bp 1 0.773356971246145 1 0.148245215415955 experiment 0.45328605750771 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445198 chr3:128445182 . . 0 5 hm5C_associated_SNPs_4513 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000294569.1
3875 chr3 128631481 128631481 1 + G A rs9830739 128631476 + 128631456 128631496 41 GGGACAGTGTCCCCTGCTACCGCCCGCCCCTACCCATGGCC GGGACAGTGTCCCCTGCTACCGCCCACCCCTACCCATGGCC < 41bp 1 0.545050429264251 1 0.731376767158508 experiment 0.909899141471499 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ACAD9 ENSG00000177646 UTR3 Human protein_coding chr3:128631476 chr3:128631481 . 0.000 0 26 hm5C_associated_SNPs_4514 1 Benign Acyl-CoA dehydrogenase family, member 9, deficiency of RCV000385238.1
3875 chr3 136002730 136002730 1 + C T rs371155999 136002747 + 136002727 136002767 41 GGCCCATGTGCTGGTGGGGCCGTCTACTCCCCAGCCCTAAC GGCTCATGTGCTGGTGGGGCCGTCTACTCCCCAGCCCTAAC < 41bp 1 0.196602681772746 1 0.391293734312057 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PCCB ENSG00000114054 CDS Human protein_coding chr3:136002747 chr3:136002730 nonsynonymous SNV 0.990 5 4 hm5C_associated_SNPs_4519 1 Uncertain significance Propionic acidemia RCV000325301.1
3875 chr3 136002738 136002738 1 + T C rs141340198 136002747 + 136002727 136002767 41 GGCCCATGTGCTGGTGGGGCCGTCTACTCCCCAGCCCTAAC GGCCCATGTGCCGGTGGGGCCGTCTACTCCCCAGCCCTAAC < 41bp 1 0.228229531979443 1 0.383101344108582 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PCCB ENSG00000114054 CDS Human protein_coding chr3:136002747 chr3:136002738 synonymous SNV . 0 12 hm5C_associated_SNPs_4520 1 Uncertain significance Propionic acidemia RCV000379889.1
3875 chr3 183860634 183860634 1 + G A rs142361539 183860652 + 183860632 183860672 41 CCGGACAGCCGGGGAGGCTCCCCTCAGATGGATGACATCAA CCAGACAGCCGGGGAGGCTCCCCTCAGATGGATGACATCAA < 41bp 1 0.120570691136638 1 0.104456424713135 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EIF2B5 ENSG00000145191 CDS Human protein_coding chr3:183860652 chr3:183860634 synonymous SNV . 0 3 hm5C_associated_SNPs_4641 1 Likely benign not specified RCV000246950.1
3875 chr3 193336666 193336666 1 + G A rs569675223 193336676 + 193336656 193336696 41 AGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATCGTG AGGTTCTCCGAAAGAAACGGCGTTTAGAGCAACAGATCGTG < 41bp 1 0.0445000557694014 1 0.0466357469558716 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control OPA1 ENSG00000198836 CDS Human protein_coding chr3:193336676 chr3:193336666 nonsynonymous SNV 0.948 0 11 hm5C_associated_SNPs_4726 1 Likely benign not specified RCV000197331.1
3875 chr3 193413732 193413732 1 + A G rs1056366 193413715 + 193413695 193413735 41 GAGGATATGAAAAAATACTTCCGAAACCAGGAATTCAATGT GAGGATATGAAAAAATACTTCCGAAACCAGGAATTCAGTGT < 41bp 1 0.423971579727278 1 0.204909563064575 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient OPA1 ENSG00000198836 UTR3 Human protein_coding chr3:193413715 chr3:193413732 . . 0 38 hm5C_associated_SNPs_4727 1 Benign Optic Atrophy, Dominant RCV000348053.1
3875 chr4 980896 980896 1 + C A rs11248061 980893 + 980873 980913 41 ATGCGTCCCCTGCGCCCCCGCGCCGCGCTGCTGGCGCTCCT ATGCGTCCCCTGCGCCCCCGCGCAGCGCTGCTGGCGCTCCT < 41bp 1 0.628583685358014 1 0.837424397468567 experiment 0.742832629283973 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control IDUA ENSG00000127415 CDS Human protein_coding chr4:980893 chr4:980896 synonymous SNV . 0 24 hm5C_associated_SNPs_4750 2 Benign not specified RCV000078388.5
3875 chr4 980896 980896 1 + C A rs11248061 980893 + 980873 980913 41 ATGCGTCCCCTGCGCCCCCGCGCCGCGCTGCTGGCGCTCCT ATGCGTCCCCTGCGCCCCCGCGCAGCGCTGCTGGCGCTCCT < 41bp 1 0.628583685358014 1 0.837424397468567 experiment 0.742832629283973 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control IDUA ENSG00000127415 CDS Human protein_coding chr4:980893 chr4:980896 synonymous SNV . 0 24 hm5C_associated_SNPs_4750 2 Benign Mucopolysaccharidosis type I RCV000336095.1
3875 chr4 980896 980896 1 + C A rs11248061 980895 + 980875 980915 41 GCGTCCCCTGCGCCCCCGCGCCGCGCTGCTGGCGCTCCTGG GCGTCCCCTGCGCCCCCGCGCAGCGCTGCTGGCGCTCCTGG < 41bp 1 0.774562811720372 1 0.674013614654541 experiment 0.450874376559257 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|28418038;GSE74775;RNA-BisSeq;SNB19;Control IDUA ENSG00000127415 CDS Human protein_coding chr4:980895 chr4:980896 synonymous SNV . 0 22 hm5C_associated_SNPs_4751 2 Benign not specified RCV000078388.5
3875 chr4 980896 980896 1 + C A rs11248061 980895 + 980875 980915 41 GCGTCCCCTGCGCCCCCGCGCCGCGCTGCTGGCGCTCCTGG GCGTCCCCTGCGCCCCCGCGCAGCGCTGCTGGCGCTCCTGG < 41bp 1 0.774562811720372 1 0.674013614654541 experiment 0.450874376559257 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|28418038;GSE74775;RNA-BisSeq;SNB19;Control IDUA ENSG00000127415 CDS Human protein_coding chr4:980895 chr4:980896 synonymous SNV . 0 22 hm5C_associated_SNPs_4751 2 Benign Mucopolysaccharidosis type I RCV000336095.1
3875 chr4 980932 980932 1 + G A rs10902762 980936 + 980916 980956 41 CCTCGCTCCTGGCCGCGCCCCCGGTGGCCCCGGCCGAGGCC CCTCGCTCCTGGCCGCACCCCCGGTGGCCCCGGCCGAGGCC < 41bp 1 0.707060891197044 1 0.824835598468781 experiment 0.585878217605912 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control IDUA ENSG00000127415 CDS Human protein_coding chr4:980936 chr4:980932 synonymous SNV . 0 17 hm5C_associated_SNPs_4754 2 Benign not specified RCV000078397.5
3875 chr4 980932 980932 1 + G A rs10902762 980936 + 980916 980956 41 CCTCGCTCCTGGCCGCGCCCCCGGTGGCCCCGGCCGAGGCC CCTCGCTCCTGGCCGCACCCCCGGTGGCCCCGGCCGAGGCC < 41bp 1 0.707060891197044 1 0.824835598468781 experiment 0.585878217605912 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control IDUA ENSG00000127415 CDS Human protein_coding chr4:980936 chr4:980932 synonymous SNV . 0 17 hm5C_associated_SNPs_4754 2 Benign Mucopolysaccharidosis type I RCV000300994.1
3875 chr4 1980784 1980784 1 + C T rs538719785 1980777 + 1980757 1980797 41 CAGGCCTCCTCGGGAGGGAGCGCCTCCCCACCACTGAGCCA CAGGCCTCCTCGGGAGGGAGCGCCTCCTCACCACTGAGCCA < 41bp 1 0.340329577171792 1 0.195168226957321 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1980777 chr4:1980784 . . 0 28 hm5C_associated_SNPs_4768 1 Likely benign 4p partial monosomy syndrome RCV000370619.1
3875 chr4 1981310 1981310 1 + A G rs115893772 1981329 + 1981309 1981349 41 AATAACACGTCCACTTTCAACGTGTAGTTTACGCGGAGCAC AGTAACACGTCCACTTTCAACGTGTAGTTTACGCGGAGCAC < 41bp 1 0.170672222259546 1 0.364517033100128 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1981329 chr4:1981310 . . 0 2 hm5C_associated_SNPs_4769 1 Likely benign 4p partial monosomy syndrome RCV000329336.1
3875 chr4 1983553 1983553 1 + C G rs145672223 1983539 + 1983519 1983559 41 ATGCAAATGACTGTCAGTTGCCAAATATCTTGATCCTATGA ATGCAAATGACTGTCAGTTGCCAAATATCTTGATGCTATGA < 41bp 1 0.073337011409667 1 0.387751668691635 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1983539 chr4:1983553 . . 0 35 hm5C_associated_SNPs_4770 1 Likely benign 4p partial monosomy syndrome RCV000373178.1
3875 chr4 1983556 1983556 1 + A G rs2187692 1983539 + 1983519 1983559 41 ATGCAAATGACTGTCAGTTGCCAAATATCTTGATCCTATGA ATGCAAATGACTGTCAGTTGCCAAATATCTTGATCCTGTGA < 41bp 1 0.080021023279163 1 0.494804263114929 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1983539 chr4:1983556 . . 0 38 hm5C_associated_SNPs_4771 1 Likely benign 4p partial monosomy syndrome RCV000285794.1
3875 chr4 79437056 79437056 1 + C T rs34678339 79437053 + 79437033 79437073 41 AGCGTGCGAGAGCCGAAGACCATCCAGCTCTACAAACACCT AGCGTGCGAGAGCCGAAGACCATTCAGCTCTACAAACACCT < 41bp 1 0.0285117368585555 1 0.0897422134876251 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FRAS1 ENSG00000138759 CDS Human protein_coding chr4:79437053 chr4:79437056 synonymous SNV . 0 24 hm5C_associated_SNPs_4966 1 Likely benign Cryptophthalmos syndrome RCV000321330.1
3875 chr4 88997876 88997876 1 + G A rs2725202 88997859 + 88997839 88997879 41 TTAAGAATATAGTACTCGGTCAGGTATGACGGCTCACGCCT TTAAGAATATAGTACTCGGTCAGGTATGACGGCTCACACCT < 41bp 1 0.73554991870531 1 0.463946849107742 experiment 0.528900162589381 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control PKD2 ENSG00000118762 UTR3 Human protein_coding chr4:88997859 chr4:88997876 . . 0 38 hm5C_associated_SNPs_4974 1 Likely benign Polycystic kidney disease, autosomal dominant RCV000349819.1
3875 chr4 159593512 159593512 1 + G A rs183609368 159593523 + 159593503 159593543 41 TTCCGGCAGGTGATGGCGCCCCCCGCGGCCTAGAGGTCCAG TTCCGGCAGATGATGGCGCCCCCCGCGGCCTAGAGGTCCAG < 41bp 1 0.394827936671133 1 0.112759560346603 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ETFDH ENSG00000171503 UTR5 Human protein_coding chr4:159593523 chr4:159593512 . . 0 10 hm5C_associated_SNPs_5008 1 Uncertain significance Glutaric aciduria, type 2 RCV000398251.1
3875 chr4 169630204 169630204 1 + T G rs58395080 169630201 + 169630181 169630221 41 GAGATTTGCACCCTAGTTATCGCTGAGACTTTCCCTGAAGA GAGATTTGCACCCTAGTTATCGCGGAGACTTTCCCTGAAGA < 41bp 1 0.558127625415437 1 0.908073008060455 experiment 0.883744749169125 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control PALLD ENSG00000129116 CDS Human protein_coding chr4:169630201 chr4:169630204 synonymous SNV . 0 24 hm5C_associated_SNPs_5015 1 Benign Carcinoma of pancreas RCV000339615.1
3875 chr5 223669 223669 1 + A G rs144599870 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTGAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.201893477144209 1 0.0791900455951691 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223669 nonsynonymous SNV 1.000 0 8 hm5C_associated_SNPs_5035 4 Likely benign Mitochondrial complex II deficiency RCV000210526.3
3875 chr5 223669 223669 1 + A G rs144599870 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTGAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.201893477144209 1 0.0791900455951691 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223669 nonsynonymous SNV 1.000 0 8 hm5C_associated_SNPs_5035 4 Likely benign Paragangliomas 5 RCV000210526.3
3875 chr5 223669 223669 1 + A G rs144599870 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTGAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.201893477144209 1 0.0791900455951691 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223669 nonsynonymous SNV 1.000 0 8 hm5C_associated_SNPs_5035 4 Likely benign not specified RCV000250106.2
3875 chr5 223669 223669 1 + A G rs144599870 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTGAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.201893477144209 1 0.0791900455951691 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223669 nonsynonymous SNV 1.000 0 8 hm5C_associated_SNPs_5035 4 Uncertain significance Paragangliomas 5 RCV000410409.1
3875 chr5 223679 223679 1 + A G rs80207011 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTAAAGTTTCAGGTTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.127234043864254 1 0.0692955255508423 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223679 nonsynonymous SNV 0.969 0 18 hm5C_associated_SNPs_5036 4 Likely benign Hereditary cancer-predisposing syndrome RCV000130407.2
3875 chr5 223679 223679 1 + A G rs80207011 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTAAAGTTTCAGGTTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.127234043864254 1 0.0692955255508423 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223679 nonsynonymous SNV 0.969 0 18 hm5C_associated_SNPs_5036 4 Likely benign Mitochondrial complex II deficiency RCV000228248.2
3875 chr5 223679 223679 1 + A G rs80207011 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTAAAGTTTCAGGTTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.127234043864254 1 0.0692955255508423 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223679 nonsynonymous SNV 0.969 0 18 hm5C_associated_SNPs_5036 4 Likely benign Paragangliomas 5 RCV000228248.2
3875 chr5 223679 223679 1 + A G rs80207011 223682 + 223662 223702 41 ATCTGCTAAAGTTTCAGATTCCGTAAGTTCATGCTTTTTGT ATCTGCTAAAGTTTCAGGTTCCGTAAGTTCATGCTTTTTGT < 41bp 1 0.127234043864254 1 0.0692955255508423 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control SDHA ENSG00000073578 CDS Human protein_coding chr5:223682 chr5:223679 nonsynonymous SNV 0.969 0 18 hm5C_associated_SNPs_5036 4 Likely benign Paragangliomas 5 RCV000410621.1
3875 chr5 7878179 7878179 1 + C T rs1532268 7878185 + 7878165 7878205 41 ATCACCTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGC ATCACCTGCATCCTTGAGGACAGACCTTGTGAAGTCAGAGC < 41bp 1 0.294106688942909 1 0.118183344602585 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878185 chr5:7878179 nonsynonymous SNV 0.000 0 15 hm5C_associated_SNPs_5054 3 Benign not specified RCV000126884.3
3875 chr5 7878179 7878179 1 + C T rs1532268 7878185 + 7878165 7878205 41 ATCACCTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGC ATCACCTGCATCCTTGAGGACAGACCTTGTGAAGTCAGAGC < 41bp 1 0.294106688942909 1 0.118183344602585 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878185 chr5:7878179 nonsynonymous SNV 0.000 0 15 hm5C_associated_SNPs_5054 3 Uncertain significance Gastrointestinal stromal tumor RCV000144927.1
3875 chr5 7878179 7878179 1 + C T rs1532268 7878185 + 7878165 7878205 41 ATCACCTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGC ATCACCTGCATCCTTGAGGACAGACCTTGTGAAGTCAGAGC < 41bp 1 0.294106688942909 1 0.118183344602585 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878185 chr5:7878179 nonsynonymous SNV 0.000 0 15 hm5C_associated_SNPs_5054 3 Benign Disorders of Intracellular Cobalamin Metabolism RCV000405120.1
3875 chr5 7878179 7878179 1 + C T rs1532268 7878190 + 7878170 7878210 41 CTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGCTGCTA CTGCATCCTTGAGGACAGACCTTGTGAAGTCAGAGCTGCTA < 41bp 1 0.527960337593946 1 0.0478578209877014 experiment 0.944079324812107 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878190 chr5:7878179 nonsynonymous SNV 0.000 0 10 hm5C_associated_SNPs_5055 3 Benign not specified RCV000126884.3
3875 chr5 7878179 7878179 1 + C T rs1532268 7878190 + 7878170 7878210 41 CTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGCTGCTA CTGCATCCTTGAGGACAGACCTTGTGAAGTCAGAGCTGCTA < 41bp 1 0.527960337593946 1 0.0478578209877014 experiment 0.944079324812107 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878190 chr5:7878179 nonsynonymous SNV 0.000 0 10 hm5C_associated_SNPs_5055 3 Uncertain significance Gastrointestinal stromal tumor RCV000144927.1
3875 chr5 7878179 7878179 1 + C T rs1532268 7878190 + 7878170 7878210 41 CTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGCTGCTA CTGCATCCTTGAGGACAGACCTTGTGAAGTCAGAGCTGCTA < 41bp 1 0.527960337593946 1 0.0478578209877014 experiment 0.944079324812107 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878190 chr5:7878179 nonsynonymous SNV 0.000 0 10 hm5C_associated_SNPs_5055 3 Benign Disorders of Intracellular Cobalamin Metabolism RCV000405120.1
3875 chr5 7878192 7878192 1 + T C rs161870 7878185 + 7878165 7878205 41 ATCACCTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGC ATCACCTGCATCCTCGAGGACAGACCTCGTGAAGTCAGAGC < 41bp 1 0.31597843021336 1 0.215250194072723 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878185 chr5:7878192 synonymous SNV . 0 28 hm5C_associated_SNPs_5056 2 Benign not specified RCV000126885.2
3875 chr5 7878192 7878192 1 + T C rs161870 7878185 + 7878165 7878205 41 ATCACCTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGC ATCACCTGCATCCTCGAGGACAGACCTCGTGAAGTCAGAGC < 41bp 1 0.31597843021336 1 0.215250194072723 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878185 chr5:7878192 synonymous SNV . 0 28 hm5C_associated_SNPs_5056 2 Benign Disorders of Intracellular Cobalamin Metabolism RCV000307309.1
3875 chr5 7878192 7878192 1 + T C rs161870 7878190 + 7878170 7878210 41 CTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGCTGCTA CTGCATCCTCGAGGACAGACCTCGTGAAGTCAGAGCTGCTA < 41bp 1 0.779532142881272 1 0.31788170337677 experiment 0.440935714237457 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878190 chr5:7878192 synonymous SNV . 0 23 hm5C_associated_SNPs_5057 2 Benign not specified RCV000126885.2
3875 chr5 7878192 7878192 1 + T C rs161870 7878190 + 7878170 7878210 41 CTGCATCCTCGAGGACAGACCTTGTGAAGTCAGAGCTGCTA CTGCATCCTCGAGGACAGACCTCGTGAAGTCAGAGCTGCTA < 41bp 1 0.779532142881272 1 0.31788170337677 experiment 0.440935714237457 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7878190 chr5:7878192 synonymous SNV . 0 23 hm5C_associated_SNPs_5057 2 Benign Disorders of Intracellular Cobalamin Metabolism RCV000307309.1
3875 chr5 7889304 7889304 1 + C T rs2287780 7889293 + 7889273 7889313 41 GTGCAGTAAACAAGGGGCAGCCGATTATAGCCGCTTTGTAC GTGCAGTAAACAAGGGGCAGCCGATTATAGCTGCTTTGTAC < 41bp 1 0.225766639492119 1 0.274121224880219 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7889293 chr5:7889304 nonsynonymous SNV 0.029 3 32 hm5C_associated_SNPs_5062 2 Benign not specified RCV000126872.2
3875 chr5 7889304 7889304 1 + C T rs2287780 7889293 + 7889273 7889313 41 GTGCAGTAAACAAGGGGCAGCCGATTATAGCCGCTTTGTAC GTGCAGTAAACAAGGGGCAGCCGATTATAGCTGCTTTGTAC < 41bp 1 0.225766639492119 1 0.274121224880219 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7889293 chr5:7889304 nonsynonymous SNV 0.029 3 32 hm5C_associated_SNPs_5062 2 Likely benign Disorders of Intracellular Cobalamin Metabolism RCV000295321.1
3875 chr5 7897283 7897283 1 + G A rs12347 7897284 + 7897264 7897304 41 AAGCCCCAGCAAAGTATGTGCAAGACAACATCCAGCTTCAT AAGCCCCAGCAAAGTATGTACAAGACAACATCCAGCTTCAT < 41bp 1 0.722848673418163 1 0.100762814283371 experiment 0.554302653163674 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7897284 chr5:7897283 synonymous SNV . 0 20 hm5C_associated_SNPs_5063 2 Benign not specified RCV000126881.2
3875 chr5 7897283 7897283 1 + G A rs12347 7897284 + 7897264 7897304 41 AAGCCCCAGCAAAGTATGTGCAAGACAACATCCAGCTTCAT AAGCCCCAGCAAAGTATGTACAAGACAACATCCAGCTTCAT < 41bp 1 0.722848673418163 1 0.100762814283371 experiment 0.554302653163674 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MTRR ENSG00000124275 CDS Human protein_coding chr5:7897284 chr5:7897283 synonymous SNV . 0 20 hm5C_associated_SNPs_5063 2 Benign Disorders of Intracellular Cobalamin Metabolism RCV000341345.1
3875 chr5 36986009 36986009 1 + T C rs148394805 36986004 + 36985984 36986024 41 ATAAATCAAGATCTGATAAACTTGGTTTTAAATCACCAACT ATAAATCAAGATCTGATAAACTTGGCTTTAAATCACCAACT < 41bp 1 0.261857800817322 1 0.157854080200195 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control NIPBL ENSG00000164190 CDS Human protein_coding chr5:36986004 chr5:36986009 synonymous SNV . 0 26 hm5C_associated_SNPs_5119 1 Likely benign not specified RCV000321066.1
3875 chr5 70895499 70895499 1 + G C rs119103219 70895490 + 70895470 70895510 41 CCTTTCTTCGCTTTAGGTCTCCATTTCTGGAATTATCCCAG CCTTTCTTCGCTTTAGGTCTCCATTTCTGCAATTATCCCAG < 41bp 1 0.0510431813746386 1 0.135745525360107 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MCCC2 ENSG00000131844 CDS Human protein_coding chr5:70895490 chr5:70895499 nonsynonymous SNV 0.998 4 30 hm5C_associated_SNPs_5161 2 Pathogenic 3-methylcrotonyl CoA carboxylase 2 deficiency RCV000001997.4
3875 chr5 70895499 70895499 1 + G C rs119103219 70895490 + 70895470 70895510 41 CCTTTCTTCGCTTTAGGTCTCCATTTCTGGAATTATCCCAG CCTTTCTTCGCTTTAGGTCTCCATTTCTGCAATTATCCCAG < 41bp 1 0.0510431813746386 1 0.135745525360107 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MCCC2 ENSG00000131844 CDS Human protein_coding chr5:70895490 chr5:70895499 nonsynonymous SNV 0.998 4 30 hm5C_associated_SNPs_5161 2 Pathogenic not provided RCV000082095.4
3875 chr5 82833368 82833368 1 + A G rs144610900 82833367 + 82833347 82833387 41 GAATTTGAAAGTGGAACAGCCAAAAAAGGGGCAGAATCAGT GAATTTGAAAGTGGAACAGCCGAAAAAGGGGCAGAATCAGT < 41bp 1 0.208841563959908 1 0.428435921669006 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82833367 chr5:82833368 nonsynonymous SNV 0.000 1 22 hm5C_associated_SNPs_5190 3 Benign not specified RCV000180246.2
3875 chr5 82833368 82833368 1 + A G rs144610900 82833367 + 82833347 82833387 41 GAATTTGAAAGTGGAACAGCCAAAAAAGGGGCAGAATCAGT GAATTTGAAAGTGGAACAGCCGAAAAAGGGGCAGAATCAGT < 41bp 1 0.208841563959908 1 0.428435921669006 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82833367 chr5:82833368 nonsynonymous SNV 0.000 1 22 hm5C_associated_SNPs_5190 3 Likely benign Wagner syndrome RCV000266214.1
3875 chr5 82833368 82833368 1 + A G rs144610900 82833367 + 82833347 82833387 41 GAATTTGAAAGTGGAACAGCCAAAAAAGGGGCAGAATCAGT GAATTTGAAAGTGGAACAGCCGAAAAAGGGGCAGAATCAGT < 41bp 1 0.208841563959908 1 0.428435921669006 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82833367 chr5:82833368 nonsynonymous SNV 0.000 1 22 hm5C_associated_SNPs_5190 3 Likely benign Vitreoretinopathy RCV000324747.1
3875 chr5 82833369 82833369 1 + A G rs309559 82833367 + 82833347 82833387 41 GAATTTGAAAGTGGAACAGCCAAAAAAGGGGCAGAATCAGT GAATTTGAAAGTGGAACAGCCAGAAAAGGGGCAGAATCAGT < 41bp 1 0.260914036605739 1 0.467070788145065 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82833367 chr5:82833369 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_5191 3 Benign not specified RCV000154116.4
3875 chr5 82833369 82833369 1 + A G rs309559 82833367 + 82833347 82833387 41 GAATTTGAAAGTGGAACAGCCAAAAAAGGGGCAGAATCAGT GAATTTGAAAGTGGAACAGCCAGAAAAGGGGCAGAATCAGT < 41bp 1 0.260914036605739 1 0.467070788145065 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82833367 chr5:82833369 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_5191 3 Benign Wagner syndrome RCV000288593.1
3875 chr5 82833369 82833369 1 + A G rs309559 82833367 + 82833347 82833387 41 GAATTTGAAAGTGGAACAGCCAAAAAAGGGGCAGAATCAGT GAATTTGAAAGTGGAACAGCCAGAAAAGGGGCAGAATCAGT < 41bp 1 0.260914036605739 1 0.467070788145065 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82833367 chr5:82833369 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_5191 3 Benign Vitreoretinopathy RCV000328381.1
3875 chr5 82834299 82834299 1 + G A rs188703 82834308 + 82834288 82834328 41 CACTCTCCCACGTAGTCCTGCCTCTGTCTTTATGGAGCAGG CACTCTCCCACATAGTCCTGCCTCTGTCTTTATGGAGCAGG < 41bp 1 0.0147565593740475 1 0.0602878332138062 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82834308 chr5:82834299 nonsynonymous SNV 0.008 1 12 hm5C_associated_SNPs_5192 3 Benign not specified RCV000154119.4
3875 chr5 82834299 82834299 1 + G A rs188703 82834308 + 82834288 82834328 41 CACTCTCCCACGTAGTCCTGCCTCTGTCTTTATGGAGCAGG CACTCTCCCACATAGTCCTGCCTCTGTCTTTATGGAGCAGG < 41bp 1 0.0147565593740475 1 0.0602878332138062 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82834308 chr5:82834299 nonsynonymous SNV 0.008 1 12 hm5C_associated_SNPs_5192 3 Benign Vitreoretinopathy RCV000282165.1
3875 chr5 82834299 82834299 1 + G A rs188703 82834308 + 82834288 82834328 41 CACTCTCCCACGTAGTCCTGCCTCTGTCTTTATGGAGCAGG CACTCTCCCACATAGTCCTGCCTCTGTCTTTATGGAGCAGG < 41bp 1 0.0147565593740475 1 0.0602878332138062 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control VCAN ENSG00000038427 CDS Human protein_coding chr5:82834308 chr5:82834299 nonsynonymous SNV 0.008 1 12 hm5C_associated_SNPs_5192 3 Benign Wagner syndrome RCV000337159.1
3875 chr5 112164557 112164557 1 + T C rs144056494 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTACTGCGAGTGTTTTGAGGAATTTGT < 41bp 1 0.117394149730026 1 0.382902562618256 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164557 nonsynonymous SNV 1.000 1 18 hm5C_associated_SNPs_5222 4 Uncertain significance not provided RCV000034405.1
3875 chr5 112164557 112164557 1 + T C rs144056494 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTACTGCGAGTGTTTTGAGGAATTTGT < 41bp 1 0.117394149730026 1 0.382902562618256 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164557 nonsynonymous SNV 1.000 1 18 hm5C_associated_SNPs_5222 4 Benign Hereditary cancer-predisposing syndrome RCV000131638.5
3875 chr5 112164557 112164557 1 + T C rs144056494 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTACTGCGAGTGTTTTGAGGAATTTGT < 41bp 1 0.117394149730026 1 0.382902562618256 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164557 nonsynonymous SNV 1.000 1 18 hm5C_associated_SNPs_5222 4 Uncertain significance Familial adenomatous polyposis 1 RCV000168324.5
3875 chr5 112164557 112164557 1 + T C rs144056494 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTACTGCGAGTGTTTTGAGGAATTTGT < 41bp 1 0.117394149730026 1 0.382902562618256 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164557 nonsynonymous SNV 1.000 1 18 hm5C_associated_SNPs_5222 4 Uncertain significance not specified RCV000211900.3
3875 chr5 112164561 112164561 1 + G A rs351771 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTATTGCAAGTGTTTTGAGGAATTTGT < 41bp 1 0.141185035120322 1 0.311737298965454 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164561 synonymous SNV . 0 22 hm5C_associated_SNPs_5223 5 Benign not specified RCV000035066.10
3875 chr5 112164561 112164561 1 + G A rs351771 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTATTGCAAGTGTTTTGAGGAATTTGT < 41bp 1 0.141185035120322 1 0.311737298965454 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164561 synonymous SNV . 0 22 hm5C_associated_SNPs_5223 5 other Familial colorectal cancer RCV000074153.1
3875 chr5 112164561 112164561 1 + G A rs351771 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTATTGCAAGTGTTTTGAGGAATTTGT < 41bp 1 0.141185035120322 1 0.311737298965454 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164561 synonymous SNV . 0 22 hm5C_associated_SNPs_5223 5 Benign Hereditary cancer-predisposing syndrome RCV000162371.1
3875 chr5 112164561 112164561 1 + G A rs351771 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTATTGCAAGTGTTTTGAGGAATTTGT < 41bp 1 0.141185035120322 1 0.311737298965454 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164561 synonymous SNV . 0 22 hm5C_associated_SNPs_5223 5 Benign APC-Associated Polyposis Disorders RCV000375983.1
3875 chr5 112164561 112164561 1 + G A rs351771 112164560 + 112164540 112164580 41 GATTAATTTGCAGGTTATTGCGAGTGTTTTGAGGAATTTGT GATTAATTTGCAGGTTATTGCAAGTGTTTTGAGGAATTTGT < 41bp 1 0.141185035120322 1 0.311737298965454 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control APC ENSG00000134982;ENSG00000258864 CDS Human other chr5:112164560 chr5:112164561 synonymous SNV . 0 22 hm5C_associated_SNPs_5223 5 Benign Familial adenomatous polyposis 1 RCV000411329.1
3875 chr5 118877677 118877677 1 + C T rs12714 118877694 + 118877674 118877714 41 CTACGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA CTATGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA < 41bp 1 0.157555485526115 1 0.0969866216182709 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118877694 chr5:118877677 synonymous SNV . 0 4 hm5C_associated_SNPs_5238 3 Benign not specified RCV000214457.2
3875 chr5 118877677 118877677 1 + C T rs12714 118877694 + 118877674 118877714 41 CTACGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA CTATGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA < 41bp 1 0.157555485526115 1 0.0969866216182709 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118877694 chr5:118877677 synonymous SNV . 0 4 hm5C_associated_SNPs_5238 3 Likely benign Perrault Syndrome RCV000271748.1
3875 chr5 118877677 118877677 1 + C T rs12714 118877694 + 118877674 118877714 41 CTACGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA CTATGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA < 41bp 1 0.157555485526115 1 0.0969866216182709 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118877694 chr5:118877677 synonymous SNV . 0 4 hm5C_associated_SNPs_5238 3 Likely benign Bifunctional peroxisomal enzyme deficiency RCV000364059.1
3875 chr5 118877695 118877695 1 + A G rs111671384 118877694 + 118877674 118877714 41 CTACGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA CTACGCCAAGCTCTGAAGGGCGCACTACACTATTAATAAAA < 41bp 1 0.195290963577783 1 0.102002441883087 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control HSD17B4 ENSG00000133835 UTR3 Human protein_coding chr5:118877694 chr5:118877695 . . 0 22 hm5C_associated_SNPs_5239 3 Benign not specified RCV000213852.1
3875 chr5 118877695 118877695 1 + A G rs111671384 118877694 + 118877674 118877714 41 CTACGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA CTACGCCAAGCTCTGAAGGGCGCACTACACTATTAATAAAA < 41bp 1 0.195290963577783 1 0.102002441883087 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control HSD17B4 ENSG00000133835 UTR3 Human protein_coding chr5:118877694 chr5:118877695 . . 0 22 hm5C_associated_SNPs_5239 3 Uncertain significance Perrault Syndrome RCV000329156.1
3875 chr5 118877695 118877695 1 + A G rs111671384 118877694 + 118877674 118877714 41 CTACGCCAAGCTCTGAAGGGCACACTACACTATTAATAAAA CTACGCCAAGCTCTGAAGGGCGCACTACACTATTAATAAAA < 41bp 1 0.195290963577783 1 0.102002441883087 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control HSD17B4 ENSG00000133835 UTR3 Human protein_coding chr5:118877694 chr5:118877695 . . 0 22 hm5C_associated_SNPs_5239 3 Uncertain significance Bifunctional peroxisomal enzyme deficiency RCV000367413.1
3875 chr5 131892979 131892979 1 + G A rs4526098 131892980 + 131892960 131893000 41 CTCAGTTAAGCCTTTGTGGGCTCCAGGTCCCTGGTGAGATT CTCAGTTAAGCCTTTGTGGACTCCAGGTCCCTGGTGAGATT < 41bp 1 0.444183167573925 1 0.1354720890522 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RAD50 ENSG00000113522 UTR5 Human protein_coding chr5:131892980 chr5:131892979 . . 0 20 hm5C_associated_SNPs_5248 1 Benign not specified RCV000160912.1
3875 chr5 131940521 131940521 1 + C A rs181961360 131940539 + 131940519 131940559 41 ATCGTAAGCTTATACAGGACCAGCAGGAACAGATTCAACAT ATAGTAAGCTTATACAGGACCAGCAGGAACAGATTCAACAT < 41bp 1 0.671288005243013 1 0.22568616271019 experiment 0.657423989513974 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control RAD50 ENSG00000113522 CDS Human protein_coding chr5:131940539 chr5:131940521 nonsynonymous SNV 1.000 1 3 hm5C_associated_SNPs_5249 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000472999.1
3875 chr5 131977963 131977963 1 + T C rs1804670 131977975 + 131977955 131977995 41 TCTGAATATGTGGAGAAATTCTACAGGATTAAAAAGAACAT TCTGAATACGTGGAGAAATTCTACAGGATTAAAAAGAACAT < 41bp 1 0.727012584447525 1 0.635460078716278 experiment 0.545974831104951 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control RAD50 ENSG00000113522 CDS Human protein_coding chr5:131977975 chr5:131977963 synonymous SNV . 0 9 hm5C_associated_SNPs_5250 2 Benign Hereditary cancer-predisposing syndrome RCV000162382.1
3875 chr5 131977963 131977963 1 + T C rs1804670 131977975 + 131977955 131977995 41 TCTGAATATGTGGAGAAATTCTACAGGATTAAAAAGAACAT TCTGAATACGTGGAGAAATTCTACAGGATTAAAAAGAACAT < 41bp 1 0.727012584447525 1 0.635460078716278 experiment 0.545974831104951 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control RAD50 ENSG00000113522 CDS Human protein_coding chr5:131977975 chr5:131977963 synonymous SNV . 0 9 hm5C_associated_SNPs_5250 2 Benign Nijmegen breakage syndrome-like disorder RCV000409557.1
3875 chr5 135369458 135369458 1 + C T rs368854767 135369452 + 135369432 135369472 41 TCTGCTGCTTTTGTTTTCAGCCCCAACGTGTGTGCTGTGCA TCTGCTGCTTTTGTTTTCAGCCCCAATGTGTGTGCTGTGCA < 41bp 1 0.214974162803004 1 0.271773844957352 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control TGFBI ENSG00000120708 CDS Human protein_coding chr5:135369452 chr5:135369458 synonymous SNV . 0 27 hm5C_associated_SNPs_5276 1 Uncertain significance Corneal Dystrophy, Dominant RCV000407008.1
3875 chr5 135369458 135369458 1 + C T rs368854767 135369453 + 135369433 135369473 41 CTGCTGCTTTTGTTTTCAGCCCCAACGTGTGTGCTGTGCAG CTGCTGCTTTTGTTTTCAGCCCCAATGTGTGTGCTGTGCAG < 41bp 1 0.24764531086994 1 0.178556323051453 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control TGFBI ENSG00000120708 CDS Human protein_coding chr5:135369453 chr5:135369458 synonymous SNV . 0 26 hm5C_associated_SNPs_5277 1 Uncertain significance Corneal Dystrophy, Dominant RCV000407008.1
3875 chr5 135369458 135369458 1 + C T rs368854767 135369454 + 135369434 135369474 41 TGCTGCTTTTGTTTTCAGCCCCAACGTGTGTGCTGTGCAGA TGCTGCTTTTGTTTTCAGCCCCAATGTGTGTGCTGTGCAGA < 41bp 1 0.0377317819306982 1 0.0916386246681213 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control TGFBI ENSG00000120708 CDS Human protein_coding chr5:135369454 chr5:135369458 synonymous SNV . 0 25 hm5C_associated_SNPs_5278 1 Uncertain significance Corneal Dystrophy, Dominant RCV000407008.1
3875 chr5 135369458 135369458 1 + C T rs368854767 135369455 + 135369435 135369475 41 GCTGCTTTTGTTTTCAGCCCCAACGTGTGTGCTGTGCAGAA GCTGCTTTTGTTTTCAGCCCCAATGTGTGTGCTGTGCAGAA < 41bp 1 0.134768456241057 1 0.14002537727356 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control TGFBI ENSG00000120708 CDS Human protein_coding chr5:135369455 chr5:135369458 synonymous SNV . 0 24 hm5C_associated_SNPs_5279 1 Uncertain significance Corneal Dystrophy, Dominant RCV000407008.1
3875 chr5 138665490 138665490 1 + A G rs185734839 138665507 + 138665487 138665527 41 GAAACATTCCATGTTTTAATCTGAGCCTTGCAGACTTTCAT GAAGCATTCCATGTTTTAATCTGAGCCTTGCAGACTTTCAT < 41bp 1 0.397253430045439 1 0.275183856487274 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MATR3 ENSG00000015479 UTR3 Human protein_coding chr5:138665507 chr5:138665490 . . 0 4 hm5C_associated_SNPs_5288 1 Likely benign Distal myopathy RCV000325460.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361950 + 149361930 149361970 41 CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAAT CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAAT < 41bp 1 0.112412616179156 1 0.0572954118251801 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361950 chr5:149361966 . . 0 37 hm5C_associated_SNPs_5345 5 Likely benign Diastrophic dysplasia RCV000273206.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361950 + 149361930 149361970 41 CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAAT CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAAT < 41bp 1 0.112412616179156 1 0.0572954118251801 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361950 chr5:149361966 . . 0 37 hm5C_associated_SNPs_5345 5 Likely benign Osteochondrodysplasia RCV000276577.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361950 + 149361930 149361970 41 CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAAT CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAAT < 41bp 1 0.112412616179156 1 0.0572954118251801 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361950 chr5:149361966 . . 0 37 hm5C_associated_SNPs_5345 5 Likely benign Atelosteogenesis RCV000307229.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361950 + 149361930 149361970 41 CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAAT CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAAT < 41bp 1 0.112412616179156 1 0.0572954118251801 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361950 chr5:149361966 . . 0 37 hm5C_associated_SNPs_5345 5 Likely benign Achondrogenesis RCV000364195.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361950 + 149361930 149361970 41 CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAAT CCATTCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAAT < 41bp 1 0.112412616179156 1 0.0572954118251801 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361950 chr5:149361966 . . 0 37 hm5C_associated_SNPs_5345 5 Likely benign Multiple epiphyseal dysplasia 4 RCV000365658.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361954 + 149361934 149361974 41 TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAATACCT TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAATACCT < 41bp 1 0.277266079412691 1 0.242406517267227 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361954 chr5:149361966 . . 0 33 hm5C_associated_SNPs_5346 5 Likely benign Diastrophic dysplasia RCV000273206.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361954 + 149361934 149361974 41 TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAATACCT TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAATACCT < 41bp 1 0.277266079412691 1 0.242406517267227 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361954 chr5:149361966 . . 0 33 hm5C_associated_SNPs_5346 5 Likely benign Osteochondrodysplasia RCV000276577.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361954 + 149361934 149361974 41 TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAATACCT TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAATACCT < 41bp 1 0.277266079412691 1 0.242406517267227 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361954 chr5:149361966 . . 0 33 hm5C_associated_SNPs_5346 5 Likely benign Atelosteogenesis RCV000307229.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361954 + 149361934 149361974 41 TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAATACCT TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAATACCT < 41bp 1 0.277266079412691 1 0.242406517267227 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361954 chr5:149361966 . . 0 33 hm5C_associated_SNPs_5346 5 Likely benign Achondrogenesis RCV000364195.1
3875 chr5 149361966 149361966 1 + C T rs1046710 149361954 + 149361934 149361974 41 TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTCTAATACCT TCCTGTCCTTAAGGCACAGTCTCATCAGAAGTTTAATACCT < 41bp 1 0.277266079412691 1 0.242406517267227 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361954 chr5:149361966 . . 0 33 hm5C_associated_SNPs_5346 5 Likely benign Multiple epiphyseal dysplasia 4 RCV000365658.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363970 + 149363950 149363990 41 CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGA CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGA < 41bp 1 0.453244493300718 1 0.191737771034241 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363970 chr5:149363988 . . 0 39 hm5C_associated_SNPs_5347 5 Likely benign Diastrophic dysplasia RCV000301888.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363970 + 149363950 149363990 41 CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGA CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGA < 41bp 1 0.453244493300718 1 0.191737771034241 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363970 chr5:149363988 . . 0 39 hm5C_associated_SNPs_5347 5 Likely benign Multiple epiphyseal dysplasia 4 RCV000337063.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363970 + 149363950 149363990 41 CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGA CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGA < 41bp 1 0.453244493300718 1 0.191737771034241 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363970 chr5:149363988 . . 0 39 hm5C_associated_SNPs_5347 5 Likely benign Achondrogenesis RCV000361235.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363970 + 149363950 149363990 41 CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGA CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGA < 41bp 1 0.453244493300718 1 0.191737771034241 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363970 chr5:149363988 . . 0 39 hm5C_associated_SNPs_5347 5 Likely benign Atelosteogenesis RCV000390271.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363970 + 149363950 149363990 41 CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGA CAGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGA < 41bp 1 0.453244493300718 1 0.191737771034241 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363970 chr5:149363988 . . 0 39 hm5C_associated_SNPs_5347 5 Likely benign Osteochondrodysplasia RCV000407328.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363971 + 149363951 149363991 41 AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGAG AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAG < 41bp 1 0.338237543066977 1 0.0892066061496735 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363971 chr5:149363988 . . 0 38 hm5C_associated_SNPs_5348 5 Likely benign Diastrophic dysplasia RCV000301888.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363971 + 149363951 149363991 41 AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGAG AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAG < 41bp 1 0.338237543066977 1 0.0892066061496735 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363971 chr5:149363988 . . 0 38 hm5C_associated_SNPs_5348 5 Likely benign Multiple epiphyseal dysplasia 4 RCV000337063.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363971 + 149363951 149363991 41 AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGAG AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAG < 41bp 1 0.338237543066977 1 0.0892066061496735 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363971 chr5:149363988 . . 0 38 hm5C_associated_SNPs_5348 5 Likely benign Achondrogenesis RCV000361235.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363971 + 149363951 149363991 41 AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGAG AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAG < 41bp 1 0.338237543066977 1 0.0892066061496735 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363971 chr5:149363988 . . 0 38 hm5C_associated_SNPs_5348 5 Likely benign Atelosteogenesis RCV000390271.1
3875 chr5 149363988 149363988 1 + C T rs28451300 149363971 + 149363951 149363991 41 AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCCGAG AGTGGCTCATGCCTGTAATCCCAGCACGTTGGGAGGCTGAG < 41bp 1 0.338237543066977 1 0.0892066061496735 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149363971 chr5:149363988 . . 0 38 hm5C_associated_SNPs_5348 5 Likely benign Osteochondrodysplasia RCV000407328.1
3875 chr5 149753894 149753894 1 + G A rs144327167 149753906 + 149753886 149753926 41 GAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGC GAGCAGCAACGAGGAGTCATCTGACAGTGAGGAGGAGACGC < 41bp 1 0.368056608141032 1 0.315954685211182 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149753906 chr5:149753894 nonsynonymous SNV 0.048 3 9 hm5C_associated_SNPs_5354 2 Likely benign Treacher Collins syndrome 1 RCV000190963.1
3875 chr5 149753894 149753894 1 + G A rs144327167 149753906 + 149753886 149753926 41 GAGCAGCAGCGAGGAGTCATCTGACAGTGAGGAGGAGACGC GAGCAGCAACGAGGAGTCATCTGACAGTGAGGAGGAGACGC < 41bp 1 0.368056608141032 1 0.315954685211182 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149753906 chr5:149753894 nonsynonymous SNV 0.048 3 9 hm5C_associated_SNPs_5354 2 Likely benign Treacher Collins Syndrome, Dominant RCV000355024.1
3875 chr5 149754325 149754325 1 + C T rs114326915 149754323 + 149754303 149754343 41 GCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGA GCGGGGAAGCGGGAGGAGGACTTGCAGAGCAGCAGCGAGGA < 41bp 1 0.30866854516966 1 0.0967078804969788 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754323 chr5:149754325 nonsynonymous SNV 0.001 0 23 hm5C_associated_SNPs_5355 1 Likely benign Treacher Collins Syndrome, Dominant RCV000327503.1
3875 chr5 149754325 149754325 1 + C T rs114326915 149754335 + 149754315 149754355 41 GAGGAGGACTCGCAGAGCAGCAGCGAGGAATCGGACAGTGA GAGGAGGACTTGCAGAGCAGCAGCGAGGAATCGGACAGTGA < 41bp 1 0.541664533054368 1 0.219207555055618 experiment 0.916670933891264 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754335 chr5:149754325 nonsynonymous SNV 0.001 0 11 hm5C_associated_SNPs_5356 1 Likely benign Treacher Collins Syndrome, Dominant RCV000327503.1
3875 chr5 149755845 149755845 1 + A G rs34796297 149755829 + 149755809 149755849 41 CCAGAGACCAGCAGAGGATTCTTCAAGCAGTGAGGAATCAG CCAGAGACCAGCAGAGGATTCTTCAAGCAGTGAGGAGTCAG < 41bp 1 0.382339311837297 1 0.317437469959259 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755829 chr5:149755845 synonymous SNV . 0 37 hm5C_associated_SNPs_5360 2 other not specified RCV000118608.3
3875 chr5 149755845 149755845 1 + A G rs34796297 149755829 + 149755809 149755849 41 CCAGAGACCAGCAGAGGATTCTTCAAGCAGTGAGGAATCAG CCAGAGACCAGCAGAGGATTCTTCAAGCAGTGAGGAGTCAG < 41bp 1 0.382339311837297 1 0.317437469959259 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755829 chr5:149755845 synonymous SNV . 0 37 hm5C_associated_SNPs_5360 2 Likely benign Treacher Collins Syndrome, Dominant RCV000363610.1
3875 chr5 149755845 149755845 1 + A G rs34796297 149755836 + 149755816 149755856 41 CCAGCAGAGGATTCTTCAAGCAGTGAGGAATCAGATAGTGA CCAGCAGAGGATTCTTCAAGCAGTGAGGAGTCAGATAGTGA < 41bp 1 0.276537384038836 1 0.242111355066299 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755836 chr5:149755845 synonymous SNV . 0 30 hm5C_associated_SNPs_5361 2 other not specified RCV000118608.3
3875 chr5 149755845 149755845 1 + A G rs34796297 149755836 + 149755816 149755856 41 CCAGCAGAGGATTCTTCAAGCAGTGAGGAATCAGATAGTGA CCAGCAGAGGATTCTTCAAGCAGTGAGGAGTCAGATAGTGA < 41bp 1 0.276537384038836 1 0.242111355066299 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755836 chr5:149755845 synonymous SNV . 0 30 hm5C_associated_SNPs_5361 2 Likely benign Treacher Collins Syndrome, Dominant RCV000363610.1
3875 chr5 149755845 149755845 1 + A G rs34796297 149755847 + 149755827 149755867 41 TTCTTCAAGCAGTGAGGAATCAGATAGTGAGGAAGAGAAGA TTCTTCAAGCAGTGAGGAGTCAGATAGTGAGGAAGAGAAGA < 41bp 1 0.286936168945662 1 0.444153875112534 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755847 chr5:149755845 synonymous SNV . 0 19 hm5C_associated_SNPs_5362 2 other not specified RCV000118608.3
3875 chr5 149755845 149755845 1 + A G rs34796297 149755847 + 149755827 149755867 41 TTCTTCAAGCAGTGAGGAATCAGATAGTGAGGAAGAGAAGA TTCTTCAAGCAGTGAGGAGTCAGATAGTGAGGAAGAGAAGA < 41bp 1 0.286936168945662 1 0.444153875112534 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755847 chr5:149755845 synonymous SNV . 0 19 hm5C_associated_SNPs_5362 2 Likely benign Treacher Collins Syndrome, Dominant RCV000363610.1
3875 chr5 149776067 149776067 1 + A G rs55980697 149776077 + 149776057 149776097 41 GACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCG GACACCACCAGGGAGAGCAGCAGGAAGGGCTGGGAGAGCCG < 41bp 1 0.795353833217872 1 0.673698782920837 experiment 0.409292333564257 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149776077 chr5:149776067 nonsynonymous SNV 0.406 3 11 hm5C_associated_SNPs_5365 2 Benign not specified RCV000251898.1
3875 chr5 149776067 149776067 1 + A G rs55980697 149776077 + 149776057 149776097 41 GACACCACCAAGGAGAGCAGCAGGAAGGGCTGGGAGAGCCG GACACCACCAGGGAGAGCAGCAGGAAGGGCTGGGAGAGCCG < 41bp 1 0.795353833217872 1 0.673698782920837 experiment 0.409292333564257 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149776077 chr5:149776067 nonsynonymous SNV 0.406 3 11 hm5C_associated_SNPs_5365 2 Likely benign Treacher Collins Syndrome, Dominant RCV000332822.1
3875 chr5 150639409 150639409 1 + A G rs153477 150639408 + 150639388 150639428 41 ACTCTGGAGCCTGACCCCATCATCGTTCCTGGAAATGTGAC ACTCTGGAGCCTGACCCCATCGTCGTTCCTGGAAATGTGAC < 41bp 1 0.573322753939397 1 0.406935214996338 experiment 0.853354492121206 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control GM2A ENSG00000196743 CDS Human protein_coding chr5:150639408 chr5:150639409 nonsynonymous SNV 0.001 0 22 hm5C_associated_SNPs_5375 2 Benign not specified RCV000153332.4
3875 chr5 150639409 150639409 1 + A G rs153477 150639408 + 150639388 150639428 41 ACTCTGGAGCCTGACCCCATCATCGTTCCTGGAAATGTGAC ACTCTGGAGCCTGACCCCATCGTCGTTCCTGGAAATGTGAC < 41bp 1 0.573322753939397 1 0.406935214996338 experiment 0.853354492121206 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control GM2A ENSG00000196743 CDS Human protein_coding chr5:150639408 chr5:150639409 nonsynonymous SNV 0.001 0 22 hm5C_associated_SNPs_5375 2 Benign Tay-Sachs disease, variant AB RCV000376352.1
3875 chr5 167913510 167913510 1 + G A rs244903 167913509 + 167913489 167913529 41 GACGCTGATGGGAGGATGGACGTACTGGTGTCTGAGTGCTC GACGCTGATGGGAGGATGGACATACTGGTGTCTGAGTGCTC < 41bp 1 0.234544168364331 1 0.11043593287468 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RARS ENSG00000113643 CDS Human protein_coding chr5:167913509 chr5:167913510 nonsynonymous SNV 0.604 0 22 hm5C_associated_SNPs_5401 1 Benign not specified RCV000427919.1
3875 chr5 167943827 167943827 1 + G A rs653568 167943826 + 167943806 167943846 41 TGCTGCTCAGACATCCGTTGCGTATGGCTGCATCAAATATG TGCTGCTCAGACATCCGTTGCATATGGCTGCATCAAATATG < 41bp 1 0.137190194722491 1 0.0282550156116486 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RARS ENSG00000113643 CDS Human protein_coding chr5:167943826 chr5:167943827 synonymous SNV . 0 22 hm5C_associated_SNPs_5402 1 Benign not specified RCV000424065.1
3875 chr5 176721119 176721119 1 + G A rs35848863 176721103 + 176721083 176721123 41 GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAG GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATATCAG < 41bp 1 0.164823780597714 1 0.0818540155887604 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721103 chr5:176721119 nonsynonymous SNV 0.671 1 37 hm5C_associated_SNPs_5487 4 Benign not specified RCV000082135.6
3875 chr5 176721119 176721119 1 + G A rs35848863 176721103 + 176721083 176721123 41 GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAG GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATATCAG < 41bp 1 0.164823780597714 1 0.0818540155887604 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721103 chr5:176721119 nonsynonymous SNV 0.671 1 37 hm5C_associated_SNPs_5487 4 Benign Sotos Syndrome RCV000299910.1
3875 chr5 176721119 176721119 1 + G A rs35848863 176721103 + 176721083 176721123 41 GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAG GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATATCAG < 41bp 1 0.164823780597714 1 0.0818540155887604 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721103 chr5:176721119 nonsynonymous SNV 0.671 1 37 hm5C_associated_SNPs_5487 4 Benign Weaver syndrome RCV000359399.1
3875 chr5 176721119 176721119 1 + G A rs35848863 176721103 + 176721083 176721123 41 GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATGTCAG GCAATCAACAGGAATGGCTGCTCAGGCACCCAAAATATCAG < 41bp 1 0.164823780597714 1 0.0818540155887604 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721103 chr5:176721119 nonsynonymous SNV 0.671 1 37 hm5C_associated_SNPs_5487 4 Benign Beckwith-Wiedemann syndrome RCV000471020.1
3875 chr5 176722005 176722005 1 + G A rs78247455 176722024 + 176722004 176722044 41 GGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG GACCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG < 41bp 1 0.115480277649461 1 0.0649799108505249 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176722024 chr5:176722005 nonsynonymous SNV 0.996 2 2 hm5C_associated_SNPs_5488 4 Benign not specified RCV000082144.6
3875 chr5 176722005 176722005 1 + G A rs78247455 176722024 + 176722004 176722044 41 GGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG GACCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG < 41bp 1 0.115480277649461 1 0.0649799108505249 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176722024 chr5:176722005 nonsynonymous SNV 0.996 2 2 hm5C_associated_SNPs_5488 4 Likely benign Sotos Syndrome RCV000302056.1
3875 chr5 176722005 176722005 1 + G A rs78247455 176722024 + 176722004 176722044 41 GGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG GACCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG < 41bp 1 0.115480277649461 1 0.0649799108505249 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176722024 chr5:176722005 nonsynonymous SNV 0.996 2 2 hm5C_associated_SNPs_5488 4 Likely benign Weaver syndrome RCV000403320.1
3875 chr5 176722005 176722005 1 + G A rs78247455 176722024 + 176722004 176722044 41 GGCCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG GACCTTTTTATATGAGCCAACAACTCAGGCCTCAGGAAGAG < 41bp 1 0.115480277649461 1 0.0649799108505249 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176722024 chr5:176722005 nonsynonymous SNV 0.996 2 2 hm5C_associated_SNPs_5488 4 Benign Beckwith-Wiedemann syndrome RCV000469381.1
3875 chr5 179247912 179247912 1 + G A rs74523483 179247909 + 179247889 179247929 41 GGCGGCTGCGACCGGGACGGCCCGTTTTCCGCCAGCTCGCC GGCGGCTGCGACCGGGACGGCCCATTTTCCGCCAGCTCGCC < 41bp 1 0.214427524831543 1 0.116670548915863 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SQSTM1 ENSG00000161011 UTR5 Human protein_coding chr5:179247909 chr5:179247912 . . 0 24 hm5C_associated_SNPs_5527 1 Likely benign Paget disease of bone RCV000265717.1
3875 chr5 179247912 179247912 1 + G A rs74523483 179247910 + 179247890 179247930 41 GCGGCTGCGACCGGGACGGCCCGTTTTCCGCCAGCTCGCCG GCGGCTGCGACCGGGACGGCCCATTTTCCGCCAGCTCGCCG < 41bp 1 0.103648601040403 1 0.0269309878349304 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control|28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control SQSTM1 ENSG00000161011 UTR5 Human protein_coding chr5:179247910 chr5:179247912 . . 0 23 hm5C_associated_SNPs_5528 1 Likely benign Paget disease of bone RCV000265717.1
3875 chr5 179247912 179247912 1 + G A rs74523483 179247911 + 179247891 179247931 41 CGGCTGCGACCGGGACGGCCCGTTTTCCGCCAGCTCGCCGC CGGCTGCGACCGGGACGGCCCATTTTCCGCCAGCTCGCCGC < 41bp 1 0.200087513453001 1 0.0173423886299133 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control|28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control SQSTM1 ENSG00000161011 UTR5 Human protein_coding chr5:179247911 chr5:179247912 . . 0 22 hm5C_associated_SNPs_5529 1 Likely benign Paget disease of bone RCV000265717.1
3875 chr5 179264132 179264132 1 + T G rs1060271 179264121 + 179264101 179264141 41 AATGTTGGTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACC AATGTTGGTTTCACTGAGAGCTGCCTCCTGGGCTCTTCACC < 41bp 1 0.179995349945269 1 0.0541068315505981 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SQSTM1 ENSG00000161010;ENSG00000161011 UTR3 Human other chr5:179264121 chr5:179264132 . . 0 32 hm5C_associated_SNPs_5530 1 Likely benign Paget disease of bone RCV000394807.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611557 + 1611537 1611577 41 ACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCC ACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCC < 41bp 1 0.500548338465915 1 0.0995873510837555 experiment 0.998903323068171 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611557 chr6:1611569 nonsynonymous SNV 0.012 1 33 hm5C_associated_SNPs_5650 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611557 + 1611537 1611577 41 ACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCC ACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCC < 41bp 1 0.500548338465915 1 0.0995873510837555 experiment 0.998903323068171 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611557 chr6:1611569 nonsynonymous SNV 0.012 1 33 hm5C_associated_SNPs_5650 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611557 + 1611537 1611577 41 ACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCC ACGGTGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCC < 41bp 1 0.500548338465915 1 0.0995873510837555 experiment 0.998903323068171 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611557 chr6:1611569 nonsynonymous SNV 0.012 1 33 hm5C_associated_SNPs_5650 3 Pathogenic not provided RCV000162086.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611560 + 1611540 1611580 41 GTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCG GTGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCG < 41bp 1 0.591451669199848 1 0.154333651065826 experiment 0.817096661600304 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611560 chr6:1611569 nonsynonymous SNV 0.012 1 30 hm5C_associated_SNPs_5651 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611560 + 1611540 1611580 41 GTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCG GTGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCG < 41bp 1 0.591451669199848 1 0.154333651065826 experiment 0.817096661600304 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611560 chr6:1611569 nonsynonymous SNV 0.012 1 30 hm5C_associated_SNPs_5651 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611560 + 1611540 1611580 41 GTGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCG GTGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCG < 41bp 1 0.591451669199848 1 0.154333651065826 experiment 0.817096661600304 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611560 chr6:1611569 nonsynonymous SNV 0.012 1 30 hm5C_associated_SNPs_5651 3 Pathogenic not provided RCV000162086.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611561 + 1611541 1611581 41 TGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGC TGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGC < 41bp 1 0.782513681127685 1 0.479841470718384 experiment 0.434972637744629 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611561 chr6:1611569 nonsynonymous SNV 0.012 1 29 hm5C_associated_SNPs_5652 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611561 + 1611541 1611581 41 TGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGC TGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGC < 41bp 1 0.782513681127685 1 0.479841470718384 experiment 0.434972637744629 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611561 chr6:1611569 nonsynonymous SNV 0.012 1 29 hm5C_associated_SNPs_5652 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611561 + 1611541 1611581 41 TGCGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGC TGCGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGC < 41bp 1 0.782513681127685 1 0.479841470718384 experiment 0.434972637744629 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611561 chr6:1611569 nonsynonymous SNV 0.012 1 29 hm5C_associated_SNPs_5652 3 Pathogenic not provided RCV000162086.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611563 + 1611543 1611583 41 CGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCG CGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCG < 41bp 1 0.600841028173857 1 0.724738717079163 experiment 0.798317943652286 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611563 chr6:1611569 nonsynonymous SNV 0.012 1 27 hm5C_associated_SNPs_5653 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611563 + 1611543 1611583 41 CGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCG CGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCG < 41bp 1 0.600841028173857 1 0.724738717079163 experiment 0.798317943652286 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611563 chr6:1611569 nonsynonymous SNV 0.012 1 27 hm5C_associated_SNPs_5653 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611563 + 1611543 1611583 41 CGGATTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCG CGGATTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCG < 41bp 1 0.600841028173857 1 0.724738717079163 experiment 0.798317943652286 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611563 chr6:1611569 nonsynonymous SNV 0.012 1 27 hm5C_associated_SNPs_5653 3 Pathogenic not provided RCV000162086.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611567 + 1611547 1611587 41 TTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGC TTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGC < 41bp 1 0.500343383944355 1 0.124660640954971 experiment 0.99931323211129 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611567 chr6:1611569 nonsynonymous SNV 0.012 1 23 hm5C_associated_SNPs_5654 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611567 + 1611547 1611587 41 TTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGC TTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGC < 41bp 1 0.500343383944355 1 0.124660640954971 experiment 0.99931323211129 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611567 chr6:1611569 nonsynonymous SNV 0.012 1 23 hm5C_associated_SNPs_5654 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611567 + 1611547 1611587 41 TTCCGCGCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGC TTCCGCGCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGC < 41bp 1 0.500343383944355 1 0.124660640954971 experiment 0.99931323211129 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611567 chr6:1611569 nonsynonymous SNV 0.012 1 23 hm5C_associated_SNPs_5654 3 Pathogenic not provided RCV000162086.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611573 + 1611553 1611593 41 GCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATA GCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATA < 41bp 1 0.42936187365424 1 0.47562563419342 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611573 chr6:1611569 nonsynonymous SNV 0.012 1 17 hm5C_associated_SNPs_5655 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611573 + 1611553 1611593 41 GCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATA GCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATA < 41bp 1 0.42936187365424 1 0.47562563419342 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611573 chr6:1611569 nonsynonymous SNV 0.012 1 17 hm5C_associated_SNPs_5655 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611573 + 1611553 1611593 41 GCCGCCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATA GCCGCCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATA < 41bp 1 0.42936187365424 1 0.47562563419342 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611573 chr6:1611569 nonsynonymous SNV 0.012 1 17 hm5C_associated_SNPs_5655 3 Pathogenic not provided RCV000162086.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611577 + 1611557 1611597 41 CCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCA CCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATAGCCA < 41bp 1 0.300226317560999 1 0.0823521316051483 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611577 chr6:1611569 nonsynonymous SNV 0.012 1 13 hm5C_associated_SNPs_5656 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611577 + 1611557 1611597 41 CCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCA CCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATAGCCA < 41bp 1 0.300226317560999 1 0.0823521316051483 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611577 chr6:1611569 nonsynonymous SNV 0.012 1 13 hm5C_associated_SNPs_5656 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611577 + 1611557 1611597 41 CCGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCA CCGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATAGCCA < 41bp 1 0.300226317560999 1 0.0823521316051483 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611577 chr6:1611569 nonsynonymous SNV 0.012 1 13 hm5C_associated_SNPs_5656 3 Pathogenic not provided RCV000162086.1
3875 chr6 1611569 1611569 1 + C T rs79691946 1611578 + 1611558 1611598 41 CGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAG CGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATAGCCAG < 41bp 1 0.362482545025608 1 0.0586803257465363 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611578 chr6:1611569 nonsynonymous SNV 0.012 1 12 hm5C_associated_SNPs_5657 3 Pathogenic Iridogoniodysgenesis type1 RCV000023070.3
3875 chr6 1611569 1611569 1 + C T rs79691946 1611578 + 1611558 1611598 41 CGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAG CGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATAGCCAG < 41bp 1 0.362482545025608 1 0.0586803257465363 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611578 chr6:1611569 nonsynonymous SNV 0.012 1 12 hm5C_associated_SNPs_5657 3 Benign not specified RCV000153259.4
3875 chr6 1611569 1611569 1 + C T rs79691946 1611578 + 1611558 1611598 41 CGCCGCCCGCGCCCTCCGCCCCGCCGCCGCACCATAGCCAG CGCCGCCCGCGTCCTCCGCCCCGCCGCCGCACCATAGCCAG < 41bp 1 0.362482545025608 1 0.0586803257465363 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FOXC1 ENSG00000054598 CDS Human protein_coding chr6:1611578 chr6:1611569 nonsynonymous SNV 0.012 1 12 hm5C_associated_SNPs_5657 3 Pathogenic not provided RCV000162086.1
3875 chr6 7572262 7572262 1 + A G rs2076304 7572244 + 7572224 7572264 41 AGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATC AGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGGTC < 41bp 1 0.0414207772916497 1 0.0501182675361633 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7572244 chr6:7572262 synonymous SNV . 0 39 hm5C_associated_SNPs_5669 4 Benign not specified RCV000154389.1
3875 chr6 7572262 7572262 1 + A G rs2076304 7572244 + 7572224 7572264 41 AGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATC AGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGGTC < 41bp 1 0.0414207772916497 1 0.0501182675361633 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7572244 chr6:7572262 synonymous SNV . 0 39 hm5C_associated_SNPs_5669 4 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000206052.2
3875 chr6 7572262 7572262 1 + A G rs2076304 7572244 + 7572224 7572264 41 AGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGATC AGGATGACTCTCAAAAACCTCCCTCTAGCAGACCAGGGGTC < 41bp 1 0.0414207772916497 1 0.0501182675361633 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7572244 chr6:7572262 synonymous SNV . 0 39 hm5C_associated_SNPs_5669 4 Benign,Benign Cardiomyopathy dilated with woolly hair and keratoderma,not specified RCV000206052.2,RCV000038004.2
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Benign not specified RCV000038028.3
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000226191.2
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000226191.2
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Benign Cardiovascular phenotype RCV000250046.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000259602.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Likely benign Cardiomyopathy, ARVC RCV000317241.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Likely benign Skin fragility woolly hair syndrome RCV000361361.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AAATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.184868812155402 1 0.277094721794128 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579933 synonymous SNV . 0 2 hm5C_associated_SNPs_5670 8 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000374207.1
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign not specified RCV000038054.3
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign Cardiovascular phenotype RCV000246748.1
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign Cardiomyopathy, ARVC RCV000266738.1
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign Epidermolysis bullosa, lethal acantholytic RCV000305773.1
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign Ectodermal dysplasia skin fragility syndrome RCV000353572.1
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign Skin fragility woolly hair syndrome RCV000359064.1
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000473526.1
3875 chr6 7581001 7581001 1 + C A rs28763966 7580985 + 7580965 7581005 41 GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAAC GCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAAAAAAC < 41bp 1 0.484939662325084 1 0.449101954698563 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7580985 chr6:7581001 nonsynonymous SNV 0.676 0 37 hm5C_associated_SNPs_5671 8 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000473526.1
3875 chr6 30887988 30887988 1 + C T rs2249459 30887972 + 30887952 30887992 41 GAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGCTGCA GAGGATGGGACCATGACCTCCCTCTGCGGGGACTGGTTGCA < 41bp 1 0.101983021231408 1 0.286471366882324 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VARS2 ENSG00000137411 CDS Human protein_coding chr6:30887972 chr6:30887988 synonymous SNV . 0 37 hm5C_associated_SNPs_6759 1 Benign not specified RCV000445010.1
3875 chr6 31708328 31708328 1 + C T rs2075789 31708322 + 31708302 31708342 41 CCTCCTCCGGCTTCCCCAGCCCGGCCCCAGTGCCGGGCCCC CCTCCTCCGGCTTCCCCAGCCCGGCCTCAGTGCCGGGCCCC < 41bp 1 0.317183438202707 1 0.678473055362701 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control MSH5 ENSG00000204410;ENSG00000255152 CDS Human other chr6:31708322 chr6:31708328 nonsynonymous SNV 0.006 1 27 hm5C_associated_SNPs_6799 1 Benign not specified RCV000455959.1
3875 chr6 31912773 31912773 1 + A G rs45507391 31912772 + 31912752 31912792 41 GGCAGGAGAATCTGGGGGAGCAGTTTTCCTTGAGCGGAGAT GGCAGGAGAATCTGGGGGAGCGGTTTTCCTTGAGCGGAGAT < 41bp 1 0.199837208117081 1 0.327765703201294 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control C2 ENSG00000166278 CDS Human protein_coding chr6:31912772 chr6:31912773 synonymous SNV . 0 22 hm5C_associated_SNPs_6821 3 Likely benign Macular degeneration RCV000260084.1
3875 chr6 31912773 31912773 1 + A G rs45507391 31912772 + 31912752 31912792 41 GGCAGGAGAATCTGGGGGAGCAGTTTTCCTTGAGCGGAGAT GGCAGGAGAATCTGGGGGAGCGGTTTTCCTTGAGCGGAGAT < 41bp 1 0.199837208117081 1 0.327765703201294 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control C2 ENSG00000166278 CDS Human protein_coding chr6:31912772 chr6:31912773 synonymous SNV . 0 22 hm5C_associated_SNPs_6821 3 Likely benign Complement component 2 deficiency RCV000269678.1
3875 chr6 31912773 31912773 1 + A G rs45507391 31912772 + 31912752 31912792 41 GGCAGGAGAATCTGGGGGAGCAGTTTTCCTTGAGCGGAGAT GGCAGGAGAATCTGGGGGAGCGGTTTTCCTTGAGCGGAGAT < 41bp 1 0.199837208117081 1 0.327765703201294 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control C2 ENSG00000166278 CDS Human protein_coding chr6:31912772 chr6:31912773 synonymous SNV . 0 22 hm5C_associated_SNPs_6821 3 Likely benign Atypical hemolytic uremic syndrome RCV000355015.1
3875 chr6 31914180 31914180 1 + G A rs641153 31914162 + 31914142 31914182 41 CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCGGC CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCAGC < 41bp 1 0.702867042757256 1 0.985603332519531 experiment 0.594265914485488 Functional Loss 31061524;GSE122266;BS-seq with improved protocol;Liver;Control CFB ENSG00000243649;ENSG00000244255 CDS Human other chr6:31914162 chr6:31914180 nonsynonymous SNV 0.000 0 39 hm5C_associated_SNPs_6823 7 Benign Factor B fast/slow polymorphism RCV000017453.2
3875 chr6 31914180 31914180 1 + G A rs641153 31914162 + 31914142 31914182 41 CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCGGC CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCAGC < 41bp 1 0.702867042757256 1 0.985603332519531 experiment 0.594265914485488 Functional Loss 31061524;GSE122266;BS-seq with improved protocol;Liver;Control CFB ENSG00000243649;ENSG00000244255 CDS Human other chr6:31914162 chr6:31914180 nonsynonymous SNV 0.000 0 39 hm5C_associated_SNPs_6823 7 Benign BF*FA/S RCV000017454.27
3875 chr6 31914180 31914180 1 + G A rs641153 31914162 + 31914142 31914182 41 CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCGGC CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCAGC < 41bp 1 0.702867042757256 1 0.985603332519531 experiment 0.594265914485488 Functional Loss 31061524;GSE122266;BS-seq with improved protocol;Liver;Control CFB ENSG00000243649;ENSG00000244255 CDS Human other chr6:31914162 chr6:31914180 nonsynonymous SNV 0.000 0 39 hm5C_associated_SNPs_6823 7 other Age-related macular degeneration 14 RCV000017458.29
3875 chr6 31914180 31914180 1 + G A rs641153 31914162 + 31914142 31914182 41 CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCGGC CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCAGC < 41bp 1 0.702867042757256 1 0.985603332519531 experiment 0.594265914485488 Functional Loss 31061524;GSE122266;BS-seq with improved protocol;Liver;Control CFB ENSG00000243649;ENSG00000244255 CDS Human other chr6:31914162 chr6:31914180 nonsynonymous SNV 0.000 0 39 hm5C_associated_SNPs_6823 7 Benign Atypical hemolytic uremic syndrome RCV000259759.1
3875 chr6 31914180 31914180 1 + G A rs641153 31914162 + 31914142 31914182 41 CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCGGC CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCAGC < 41bp 1 0.702867042757256 1 0.985603332519531 experiment 0.594265914485488 Functional Loss 31061524;GSE122266;BS-seq with improved protocol;Liver;Control CFB ENSG00000243649;ENSG00000244255 CDS Human other chr6:31914162 chr6:31914180 nonsynonymous SNV 0.000 0 39 hm5C_associated_SNPs_6823 7 Likely benign Complement component 2 deficiency RCV000281261.1
3875 chr6 31914180 31914180 1 + G A rs641153 31914162 + 31914142 31914182 41 CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCGGC CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCAGC < 41bp 1 0.702867042757256 1 0.985603332519531 experiment 0.594265914485488 Functional Loss 31061524;GSE122266;BS-seq with improved protocol;Liver;Control CFB ENSG00000243649;ENSG00000244255 CDS Human other chr6:31914162 chr6:31914180 nonsynonymous SNV 0.000 0 39 hm5C_associated_SNPs_6823 7 other Macular degeneration RCV000319518.1
3875 chr6 31914180 31914180 1 + G A rs641153 31914162 + 31914142 31914182 41 CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCGGC CTCTTCAGGTGTGACCACCACTCCATGGTCTTTGGCCCAGC < 41bp 1 0.702867042757256 1 0.985603332519531 experiment 0.594265914485488 Functional Loss 31061524;GSE122266;BS-seq with improved protocol;Liver;Control CFB ENSG00000243649;ENSG00000244255 CDS Human other chr6:31914162 chr6:31914180 nonsynonymous SNV 0.000 0 39 hm5C_associated_SNPs_6823 7 Benign not specified RCV000455762.1
3875 chr6 31926721 31926721 1 + C G rs546698443 31926733 - 31926713 31926753 41 GCTACGTCATCGTTGTGAGCCCGCTATCAGCGGCCAGCGCG GCTACGTCATCGTTGTGAGCCCGCTATCAGCGCCCAGCGCG < 41bp 1 0.461854194536654 1 0.424241840839386 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control NELFE;SKIV2L ENSG00000204356 UTR5 Human protein_coding chr6:31926733 chr6:31926721 . . 0 33 hm5C_associated_SNPs_6824 1 Uncertain significance Trichohepatoenteric syndrome RCV000361885.1
3875 chr6 31928238 31928238 1 + T C rs3895064 31928230 + 31928210 31928250 41 TCTTGCTGGAGAACACAAATCTCTCGGCTACAACCTCCTTG TCTTGCTGGAGAACACAAATCTCTCGGCCACAACCTCCTTG < 41bp 1 0.365445051989728 1 0.103994101285934 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SKIV2L ENSG00000204351 CDS Human protein_coding chr6:31928230 chr6:31928238 synonymous SNV . 0 29 hm5C_associated_SNPs_6826 1 Uncertain significance Trichohepatoenteric syndrome RCV000346192.1
3875 chr6 31929808 31929808 1 + C T rs35664695 31929807 + 31929787 31929827 41 TGTGGCTGAATATGCCATTGCCCTGGCCCAGAAACACATGA TGTGGCTGAATATGCCATTGCTCTGGCCCAGAAACACATGA < 41bp 1 0.341149938907973 1 0.217230796813965 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control SKIV2L ENSG00000204351 CDS Human protein_coding chr6:31929807 chr6:31929808 synonymous SNV . 0 22 hm5C_associated_SNPs_6827 1 Likely benign Trichohepatoenteric syndrome RCV000367208.1
3875 chr6 31936668 31936668 1 + T C rs410851 31936653 + 31936633 31936673 41 CCCTTTTTCTTGCAGGTGCTCCGAACCCTGGGTTATGTGGA CCCTTTTTCTTGCAGGTGCTCCGAACCCTGGGTTACGTGGA < 41bp 1 0.346458690556499 1 0.749715566635132 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control SKIV2L ENSG00000204351 CDS Human protein_coding chr6:31936653 chr6:31936668 synonymous SNV . 0 36 hm5C_associated_SNPs_6829 2 Benign Trichohepatoenteric syndrome RCV000309240.1
3875 chr6 31936668 31936668 1 + T C rs410851 31936653 + 31936633 31936673 41 CCCTTTTTCTTGCAGGTGCTCCGAACCCTGGGTTATGTGGA CCCTTTTTCTTGCAGGTGCTCCGAACCCTGGGTTACGTGGA < 41bp 1 0.346458690556499 1 0.749715566635132 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control SKIV2L ENSG00000204351 CDS Human protein_coding chr6:31936653 chr6:31936668 synonymous SNV . 0 36 hm5C_associated_SNPs_6829 2 Benign not specified RCV000455104.1
3875 chr6 33411299 33411299 1 + C T rs61421477 33411295 + 33411275 33411315 41 TAGCAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCC TAGCAAGAGTGAGGACCTCTCTTCTGGGGTCCCCAAGCCCC < 41bp 1 0.252867424448495 1 0.249261260032654 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33411295 chr6:33411299 synonymous SNV . 0 25 hm5C_associated_SNPs_6845 2 Likely benign not specified RCV000118569.2
3875 chr6 33411299 33411299 1 + C T rs61421477 33411295 + 33411275 33411315 41 TAGCAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCC TAGCAAGAGTGAGGACCTCTCTTCTGGGGTCCCCAAGCCCC < 41bp 1 0.252867424448495 1 0.249261260032654 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33411295 chr6:33411299 synonymous SNV . 0 25 hm5C_associated_SNPs_6845 2 Benign Mental retardation, autosomal dominant 5 RCV000457461.1
3875 chr6 35420267 35420267 1 + C T rs4713866 35420260 + 35420240 35420280 41 GCGCTGGAGTCCTCCGTTCCCCTCAGCCTCTGAGCTGAGGC GCGCTGGAGTCCTCCGTTCCCCTCAGCTTCTGAGCTGAGGC < 41bp 1 0.410131285196816 1 0.318694412708282 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FANCE ENSG00000112039 UTR5 Human protein_coding chr6:35420260 chr6:35420267 . . 0 28 hm5C_associated_SNPs_6858 1 Likely benign Fanconi anemia RCV000287589.1
3875 chr6 44274725 44274725 1 + T A rs147091256 44274726 - 44274706 44274746 41 CGTCGAGCTGTGCGTTTCTCCATGGAGATCTTAAAGGCACC CGTCGAGCTGTGCGTTTCTCCTTGGAGATCTTAAAGGCACC < 41bp 1 0.49433126532283 1 0.692099690437317 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control AARS2 ENSG00000124608;ENSG00000178233;ENSG00000272442 CDS Human other chr6:44274726 chr6:44274725 nonsynonymous SNV 0.095 0 22 hm5C_associated_SNPs_6924 2 Uncertain significance Combined oxidative phosphorylation deficiency RCV000272507.1
3875 chr6 44274725 44274725 1 + T A rs147091256 44274726 - 44274706 44274746 41 CGTCGAGCTGTGCGTTTCTCCATGGAGATCTTAAAGGCACC CGTCGAGCTGTGCGTTTCTCCTTGGAGATCTTAAAGGCACC < 41bp 1 0.49433126532283 1 0.692099690437317 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control AARS2 ENSG00000124608;ENSG00000178233;ENSG00000272442 CDS Human other chr6:44274726 chr6:44274725 nonsynonymous SNV 0.095 0 22 hm5C_associated_SNPs_6924 2 Uncertain significance not specified RCV000417904.1
3875 chr6 45390511 45390511 1 + G A rs6921145 45390531 + 45390511 45390551 41 GGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGC AGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGC < 41bp 1 0.786380324144889 1 0.908305168151855 experiment 0.427239351710221 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control RUNX2 ENSG00000124813 CDS Human protein_coding chr6:45390531 chr6:45390511 synonymous SNV . 0 1 hm5C_associated_SNPs_6927 2 Benign not specified RCV000177104.2
3875 chr6 45390511 45390511 1 + G A rs6921145 45390531 + 45390511 45390551 41 GGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGC AGCGGCGGCTGCGGCGGCGGCAGCTGCAGTGCCCCGGTTGC < 41bp 1 0.786380324144889 1 0.908305168151855 experiment 0.427239351710221 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control RUNX2 ENSG00000124813 CDS Human protein_coding chr6:45390531 chr6:45390511 synonymous SNV . 0 1 hm5C_associated_SNPs_6927 2 Benign Cleidocranial dysostosis RCV000332766.1
3875 chr6 47576969 47576969 1 + T A rs34069459 47576982 + 47576962 47577002 41 AAAAAAATTCCCTGGATGAACTTAGAGCCCAGATTATTGAA AAAAAAAATCCCTGGATGAACTTAGAGCCCAGATTATTGAA < 41bp 1 0.23126152534306 1 0.0954552292823792 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control CD2AP ENSG00000198087 CDS Human protein_coding chr6:47576982 chr6:47576969 nonsynonymous SNV 0.976 0 8 hm5C_associated_SNPs_6928 1 Benign not specified RCV000247037.1
3875 chr6 76628275 76628275 1 + A G rs73751758 76628270 + 76628250 76628290 41 CTTAGCACATAGGAATGGCACTGCCATACTGGAGAAGGTCA CTTAGCACATAGGAATGGCACTGCCGTACTGGAGAAGGTCA < 41bp 1 0.439403511701922 1 0.0407850444316864 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MYO6 ENSG00000196586 UTR3 Human protein_coding chr6:76628270 chr6:76628275 . . 0 26 hm5C_associated_SNPs_6939 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000321161.1
3875 chr6 76628275 76628275 1 + A G rs73751758 76628270 + 76628250 76628290 41 CTTAGCACATAGGAATGGCACTGCCATACTGGAGAAGGTCA CTTAGCACATAGGAATGGCACTGCCGTACTGGAGAAGGTCA < 41bp 1 0.439403511701922 1 0.0407850444316864 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MYO6 ENSG00000196586 UTR3 Human protein_coding chr6:76628270 chr6:76628275 . . 0 26 hm5C_associated_SNPs_6939 2 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000357257.1
3875 chr6 110062679 110062679 1 + A G rs61729092 110062698 + 110062678 110062718 41 CACTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC CGCTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC < 41bp 1 0.186783592416716 1 0.867338001728058 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FIG4 ENSG00000112367 CDS Human protein_coding chr6:110062698 chr6:110062679 nonsynonymous SNV 0.978 2 2 hm5C_associated_SNPs_6955 4 other not specified RCV000250363.2
3875 chr6 110062679 110062679 1 + A G rs61729092 110062698 + 110062678 110062718 41 CACTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC CGCTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC < 41bp 1 0.186783592416716 1 0.867338001728058 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FIG4 ENSG00000112367 CDS Human protein_coding chr6:110062698 chr6:110062679 nonsynonymous SNV 0.978 2 2 hm5C_associated_SNPs_6955 4 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000303832.1
3875 chr6 110062679 110062679 1 + A G rs61729092 110062698 + 110062678 110062718 41 CACTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC CGCTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC < 41bp 1 0.186783592416716 1 0.867338001728058 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FIG4 ENSG00000112367 CDS Human protein_coding chr6:110062698 chr6:110062679 nonsynonymous SNV 0.978 2 2 hm5C_associated_SNPs_6955 4 Likely benign Charcot-Marie-Tooth, Type 4 RCV000402351.1
3875 chr6 110062679 110062679 1 + A G rs61729092 110062698 + 110062678 110062718 41 CACTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC CGCTCTAATAGCTAGAAGATCCAGTAAATTTGCTGGCACCC < 41bp 1 0.186783592416716 1 0.867338001728058 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FIG4 ENSG00000112367 CDS Human protein_coding chr6:110062698 chr6:110062679 nonsynonymous SNV 0.978 2 2 hm5C_associated_SNPs_6955 4 Benign Charcot-Marie-Tooth disease, type IV RCV000463578.1
3875 chr6 132211763 132211763 1 + G A rs1044548 132211762 + 132211742 132211782 41 ACTGTCGACCAGAGTTAGAACGGAGCCCTCGGTGATGCGGA ACTGTCGACCAGAGTTAGAACAGAGCCCTCGGTGATGCGGA < 41bp 1 0.608968772999951 1 0.525083899497986 experiment 0.782062454000099 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ENPP1 ENSG00000197594 UTR3 Human protein_coding chr6:132211762 chr6:132211763 . . 0 22 hm5C_associated_SNPs_6973 2 Benign Arterial calcification of infancy RCV000288106.1
3875 chr6 132211763 132211763 1 + G A rs1044548 132211762 + 132211742 132211782 41 ACTGTCGACCAGAGTTAGAACGGAGCCCTCGGTGATGCGGA ACTGTCGACCAGAGTTAGAACAGAGCCCTCGGTGATGCGGA < 41bp 1 0.608968772999951 1 0.525083899497986 experiment 0.782062454000099 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ENPP1 ENSG00000197594 UTR3 Human protein_coding chr6:132211762 chr6:132211763 . . 0 22 hm5C_associated_SNPs_6973 2 Benign Hypophosphatemic Rickets, Recessive RCV000404885.1
3875 chr7 193399 193399 1 + C A rs538469200 193409 + 193389 193429 41 CGGGGCCGCCCCGGGGAGCCCCCGGCCGCCTCCTCCGCCGC CGGGGCCGCCACGGGGAGCCCCCGGCCGCCTCCTCCGCCGC < 41bp 1 0.777127688841124 1 0.550962209701538 experiment 0.445744622317753 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control FAM20C ENSG00000177706 CDS Human protein_coding chr7:193409 chr7:193399 nonsynonymous SNV 0.109 2 11 hm5C_associated_SNPs_7076 1 Likely benign not specified RCV000270050.1
3875 chr7 286402 286402 1 + A G rs141256626 286404 + 286384 286424 41 AACGAGGGAGCAGGAGACACCCCCTGACTTTTTTTATTTCT AACGAGGGAGCAGGAGACGCCCCCTGACTTTTTTTATTTCT < 41bp 1 0.0705584019624316 1 0.160238087177277 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control FAM20C ENSG00000177706 CDS Human protein_coding chr7:286404 chr7:286402 synonymous SNV . 0 19 hm5C_associated_SNPs_7077 1 Benign not specified RCV000303341.1
3875 chr7 819695 819695 1 + A G rs61755909 819711 + 819691 819731 41 TCCTACTATCAGAGCAGTGTCCAGTACCTGTACCGAGAGTT TCCTGCTATCAGAGCAGTGTCCAGTACCTGTACCGAGAGTT < 41bp 1 0.157136086986258 1 0.209117233753204 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control DNAAF5 ENSG00000164818 CDS Human protein_coding chr7:819711 chr7:819695 nonsynonymous SNV 0.027 0 5 hm5C_associated_SNPs_7079 1 Likely benign Primary ciliary dyskinesia RCV000474360.1
3875 chr7 4830463 4830463 1 + G A rs11766611 4830446 + 4830426 4830466 41 TGCTGCCCTGCCCAGGTGTCCCCCCCAGGTGGTCACCGTGC TGCTGCCCTGCCCAGGTGTCCCCCCCAGGTGGTCACCATGC < 41bp 1 0.0829452378284073 1 0.0187576115131378 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control AP5Z1 ENSG00000242802 CDS Human protein_coding chr7:4830446 chr7:4830463 nonsynonymous SNV 0.020 1 38 hm5C_associated_SNPs_7169 2 Likely benign not specified RCV000116375.2
3875 chr7 4830463 4830463 1 + G A rs11766611 4830446 + 4830426 4830466 41 TGCTGCCCTGCCCAGGTGTCCCCCCCAGGTGGTCACCGTGC TGCTGCCCTGCCCAGGTGTCCCCCCCAGGTGGTCACCATGC < 41bp 1 0.0829452378284073 1 0.0187576115131378 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control AP5Z1 ENSG00000242802 CDS Human protein_coding chr7:4830446 chr7:4830463 nonsynonymous SNV 0.020 1 38 hm5C_associated_SNPs_7169 2 Benign Spastic paraplegia 48, autosomal recessive RCV000475087.1
3875 chr7 30661069 30661069 1 + C A rs113958280 30661058 + 30661038 30661078 41 TCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCA TCGTTCCTGTTATGACCTCTCCTGTCATGCAAGAGCCACCA < 41bp 1 0.234448155888673 1 0.244148850440979 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GARS ENSG00000106105 CDS Human protein_coding chr7:30661058 chr7:30661069 synonymous SNV . 0 32 hm5C_associated_SNPs_7230 4 Likely benign Distal spinal muscular atrophy RCV000293996.1
3875 chr7 30661069 30661069 1 + C A rs113958280 30661058 + 30661038 30661078 41 TCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCA TCGTTCCTGTTATGACCTCTCCTGTCATGCAAGAGCCACCA < 41bp 1 0.234448155888673 1 0.244148850440979 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GARS ENSG00000106105 CDS Human protein_coding chr7:30661058 chr7:30661069 synonymous SNV . 0 32 hm5C_associated_SNPs_7230 4 Likely benign Charcot-Marie-Tooth, Type 2 RCV000319484.1
3875 chr7 30661069 30661069 1 + C A rs113958280 30661058 + 30661038 30661078 41 TCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCA TCGTTCCTGTTATGACCTCTCCTGTCATGCAAGAGCCACCA < 41bp 1 0.234448155888673 1 0.244148850440979 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GARS ENSG00000106105 CDS Human protein_coding chr7:30661058 chr7:30661069 synonymous SNV . 0 32 hm5C_associated_SNPs_7230 4 Likely benign Peripheral axonal neuropathy RCV000385710.1
3875 chr7 30661069 30661069 1 + C A rs113958280 30661058 + 30661038 30661078 41 TCGTTCCTGTTATGACCTCTCCTGTCATGCACGAGCCACCA TCGTTCCTGTTATGACCTCTCCTGTCATGCAAGAGCCACCA < 41bp 1 0.234448155888673 1 0.244148850440979 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GARS ENSG00000106105 CDS Human protein_coding chr7:30661058 chr7:30661069 synonymous SNV . 0 32 hm5C_associated_SNPs_7230 4 Likely benign not specified RCV000431646.1
3875 chr7 36445855 36445855 1 + A C rs61737563 36445868 + 36445848 36445888 41 CCCTCCCAGACCTCTGCTTTCAAATGCCTCGGCAACTCCAG CCCTCCCCGACCTCTGCTTTCAAATGCCTCGGCAACTCCAG < 41bp 1 0.528029370495431 1 0.391947448253632 experiment 0.943941259009139 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ANLN ENSG00000011426 CDS Human protein_coding chr7:36445868 chr7:36445855 synonymous SNV . 0 8 hm5C_associated_SNPs_7253 1 Benign not specified RCV000247760.1
3875 chr7 36445856 36445856 1 + G A rs197367 36445868 + 36445848 36445888 41 CCCTCCCAGACCTCTGCTTTCAAATGCCTCGGCAACTCCAG CCCTCCCAAACCTCTGCTTTCAAATGCCTCGGCAACTCCAG < 41bp 1 0.486970358789547 1 0.31701922416687 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ANLN ENSG00000011426 CDS Human protein_coding chr7:36445868 chr7:36445856 nonsynonymous SNV 0.004 0 9 hm5C_associated_SNPs_7254 1 Benign not specified RCV000252709.1
3875 chr7 55259429 55259429 1 + G A rs41420046 55259432 + 55259412 55259452 41 GGCATGAACTACTTGGAGGACCGTCGCTTGGTGCACCGCGA GGCATGAACTACTTGGAAGACCGTCGCTTGGTGCACCGCGA < 41bp 1 0.117724082938203 1 0.267926454544067 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EGFR ENSG00000146648 CDS Human protein_coding chr7:55259432 chr7:55259429 synonymous SNV . 0 18 hm5C_associated_SNPs_7293 1 Benign not specified RCV000243379.1
3875 chr7 55273868 55273868 1 + G A rs572674550 55273862 + 55273842 55273882 41 CCTTCATGGCCCCAGCAGGCCGGATCGGTACTGTATCAAGT CCTTCATGGCCCCAGCAGGCCGGATCAGTACTGTATCAAGT < 41bp 1 0.303178049089532 1 0.190010845661163 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control EGFR ENSG00000146648 UTR3 Human protein_coding chr7:55273862 chr7:55273868 . . 0 27 hm5C_associated_SNPs_7295 1 Uncertain significance Lung cancer RCV000308321.1
3875 chr7 66105838 66105838 1 + A G rs115778754 66105853 + 66105833 66105873 41 AATAAATAAATTGGGGAGGACAGCCTCACTGGTATCAGACT AATAAGTAAATTGGGGAGGACAGCCTCACTGGTATCAGACT < 41bp 1 0.256660943760049 1 0.233879178762436 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control KCTD7 ENSG00000243335 UTR3 Human protein_coding chr7:66105853 chr7:66105838 . . 0 6 hm5C_associated_SNPs_7321 1 Uncertain significance Progressive myoclonic epilepsy RCV000330347.1
3875 chr7 75615978 75615978 1 + G A rs184275273 75615958 + 75615938 75615978 41 GGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCG GGTGCATCCTCCTCAGCCCCCAGGCCAGGTGAGGTCCACCA < 41bp 1 0.663772936553082 1 0.890208065509796 experiment 0.672454126893836 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POR ENSG00000127948 UTR3 Human protein_coding chr7:75615958 chr7:75615978 . . 0 41 hm5C_associated_SNPs_7349 1 Uncertain significance Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis RCV000298946.1
3875 chr7 75933439 75933439 1 + C T rs528301561 75933438 + 75933418 75933458 41 AGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAG AGTCACCTTCGAGTCGCGGGCTCAGCTTGGGGGCCCAGAAG < 41bp 1 0.517871576045554 1 0.305636882781982 experiment 0.964256847908891 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933438 chr7:75933439 synonymous SNV . 0 22 hm5C_associated_SNPs_7358 1 Benign Charcot-Marie-Tooth disease type 2F RCV000233138.1
3875 chr7 75933439 75933439 1 + C T rs528301561 75933440 + 75933420 75933460 41 TCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCT TCACCTTCGAGTCGCGGGCTCAGCTTGGGGGCCCAGAAGCT < 41bp 1 0.551622704723691 1 0.318273693323135 experiment 0.896754590552618 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933440 chr7:75933439 synonymous SNV . 0 20 hm5C_associated_SNPs_7359 1 Benign Charcot-Marie-Tooth disease type 2F RCV000233138.1
3875 chr7 75933439 75933439 1 + C T rs528301561 75933451 + 75933431 75933471 41 TCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGA TCGCGGGCTCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGA < 41bp 1 0.147098378884744 1 0.0977120399475098 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933451 chr7:75933439 synonymous SNV . 0 9 hm5C_associated_SNPs_7360 1 Benign Charcot-Marie-Tooth disease type 2F RCV000233138.1
3875 chr7 75933439 75933439 1 + C T rs528301561 75933452 + 75933432 75933472 41 CGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGAT CGCGGGCTCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGAT < 41bp 1 0.393483763179709 1 0.174637913703918 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933452 chr7:75933439 synonymous SNV . 0 8 hm5C_associated_SNPs_7361 1 Benign Charcot-Marie-Tooth disease type 2F RCV000233138.1
3875 chr7 75933439 75933439 1 + C T rs528301561 75933453 + 75933433 75933473 41 GCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATG GCGGGCTCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATG < 41bp 1 0.784200377875339 1 0.554097175598145 experiment 0.431599244249321 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933453 chr7:75933439 synonymous SNV . 0 7 hm5C_associated_SNPs_7362 1 Benign Charcot-Marie-Tooth disease type 2F RCV000233138.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933438 + 75933418 75933458 41 AGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAG AGTCACCTTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAG < 41bp 1 0.293637658827655 1 0.133470565080643 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933438 chr7:75933445 synonymous SNV . 0 28 hm5C_associated_SNPs_7363 2 Likely benign not specified RCV000439558.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933438 + 75933418 75933458 41 AGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAG AGTCACCTTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAG < 41bp 1 0.293637658827655 1 0.133470565080643 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933438 chr7:75933445 synonymous SNV . 0 28 hm5C_associated_SNPs_7363 2 Benign Charcot-Marie-Tooth disease type 2F RCV000475381.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933439 + 75933419 75933459 41 GTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGC GTCACCTTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAGC < 41bp 1 0.237907845492159 1 0.163550227880478 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933439 chr7:75933445 synonymous SNV . 0 27 hm5C_associated_SNPs_7364 2 Likely benign not specified RCV000439558.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933439 + 75933419 75933459 41 GTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGC GTCACCTTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAGC < 41bp 1 0.237907845492159 1 0.163550227880478 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933439 chr7:75933445 synonymous SNV . 0 27 hm5C_associated_SNPs_7364 2 Benign Charcot-Marie-Tooth disease type 2F RCV000475381.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933440 + 75933420 75933460 41 TCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCT TCACCTTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAGCT < 41bp 1 0.413866829495371 1 0.144197732210159 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933440 chr7:75933445 synonymous SNV . 0 26 hm5C_associated_SNPs_7365 2 Likely benign not specified RCV000439558.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933440 + 75933420 75933460 41 TCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCT TCACCTTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAGCT < 41bp 1 0.413866829495371 1 0.144197732210159 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933440 chr7:75933445 synonymous SNV . 0 26 hm5C_associated_SNPs_7365 2 Benign Charcot-Marie-Tooth disease type 2F RCV000475381.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933451 + 75933431 75933471 41 TCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGA TCGCGGGCCCAGCTCGGGGGCCCAGAAGCTGCAAAATCCGA < 41bp 1 0.141106160086447 1 0.117381304502487 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933451 chr7:75933445 synonymous SNV . 0 15 hm5C_associated_SNPs_7366 2 Likely benign not specified RCV000439558.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933451 + 75933431 75933471 41 TCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGA TCGCGGGCCCAGCTCGGGGGCCCAGAAGCTGCAAAATCCGA < 41bp 1 0.141106160086447 1 0.117381304502487 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933451 chr7:75933445 synonymous SNV . 0 15 hm5C_associated_SNPs_7366 2 Benign Charcot-Marie-Tooth disease type 2F RCV000475381.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933452 + 75933432 75933472 41 CGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGAT CGCGGGCCCAGCTCGGGGGCCCAGAAGCTGCAAAATCCGAT < 41bp 1 0.364289535422199 1 0.138187021017075 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933452 chr7:75933445 synonymous SNV . 0 14 hm5C_associated_SNPs_7367 2 Likely benign not specified RCV000439558.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933452 + 75933432 75933472 41 CGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGAT CGCGGGCCCAGCTCGGGGGCCCAGAAGCTGCAAAATCCGAT < 41bp 1 0.364289535422199 1 0.138187021017075 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933452 chr7:75933445 synonymous SNV . 0 14 hm5C_associated_SNPs_7367 2 Benign Charcot-Marie-Tooth disease type 2F RCV000475381.1
3875 chr7 91622303 91622303 1 + G C rs144888041 91622287 + 91622267 91622307 41 GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGAGATTG GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGACATTG < 41bp 1 0.756888487194438 1 0.393604457378387 experiment 0.486223025611124 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622287 chr7:91622303 nonsynonymous SNV 1.000 0 37 hm5C_associated_SNPs_7388 5 Likely benign not provided RCV000170646.3
3875 chr7 91622303 91622303 1 + G C rs144888041 91622287 + 91622267 91622307 41 GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGAGATTG GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGACATTG < 41bp 1 0.756888487194438 1 0.393604457378387 experiment 0.486223025611124 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622287 chr7:91622303 nonsynonymous SNV 1.000 0 37 hm5C_associated_SNPs_7388 5 Uncertain significance not specified RCV000185491.2
3875 chr7 91622303 91622303 1 + G C rs144888041 91622287 + 91622267 91622307 41 GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGAGATTG GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGACATTG < 41bp 1 0.756888487194438 1 0.393604457378387 experiment 0.486223025611124 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622287 chr7:91622303 nonsynonymous SNV 1.000 0 37 hm5C_associated_SNPs_7388 5 other Long QT syndrome RCV000197421.4
3875 chr7 91622303 91622303 1 + G C rs144888041 91622287 + 91622267 91622307 41 GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGAGATTG GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGACATTG < 41bp 1 0.756888487194438 1 0.393604457378387 experiment 0.486223025611124 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622287 chr7:91622303 nonsynonymous SNV 1.000 0 37 hm5C_associated_SNPs_7388 5 Likely benign Cardiovascular phenotype RCV000242948.1
3875 chr7 91622303 91622303 1 + G C rs144888041 91622287 + 91622267 91622307 41 GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGAGATTG GATGATGGAAAGTGAGTTGGCTGGGAAGCAGCATGACATTG < 41bp 1 0.756888487194438 1 0.393604457378387 experiment 0.486223025611124 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622287 chr7:91622303 nonsynonymous SNV 1.000 0 37 hm5C_associated_SNPs_7388 5 Uncertain significance Romano-Ward syndrome RCV000354957.1
3875 chr7 91622303 91622303 1 + G C rs144888041 91622295 + 91622275 91622315 41 AAAGTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTA AAAGTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTA < 41bp 1 0.676723176405635 1 0.727997422218323 experiment 0.646553647188731 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622295 chr7:91622303 nonsynonymous SNV 1.000 0 29 hm5C_associated_SNPs_7389 5 Likely benign not provided RCV000170646.3
3875 chr7 91622303 91622303 1 + G C rs144888041 91622295 + 91622275 91622315 41 AAAGTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTA AAAGTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTA < 41bp 1 0.676723176405635 1 0.727997422218323 experiment 0.646553647188731 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622295 chr7:91622303 nonsynonymous SNV 1.000 0 29 hm5C_associated_SNPs_7389 5 Uncertain significance not specified RCV000185491.2
3875 chr7 91622303 91622303 1 + G C rs144888041 91622295 + 91622275 91622315 41 AAAGTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTA AAAGTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTA < 41bp 1 0.676723176405635 1 0.727997422218323 experiment 0.646553647188731 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622295 chr7:91622303 nonsynonymous SNV 1.000 0 29 hm5C_associated_SNPs_7389 5 other Long QT syndrome RCV000197421.4
3875 chr7 91622303 91622303 1 + G C rs144888041 91622295 + 91622275 91622315 41 AAAGTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTA AAAGTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTA < 41bp 1 0.676723176405635 1 0.727997422218323 experiment 0.646553647188731 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622295 chr7:91622303 nonsynonymous SNV 1.000 0 29 hm5C_associated_SNPs_7389 5 Likely benign Cardiovascular phenotype RCV000242948.1
3875 chr7 91622303 91622303 1 + G C rs144888041 91622295 + 91622275 91622315 41 AAAGTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTA AAAGTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTA < 41bp 1 0.676723176405635 1 0.727997422218323 experiment 0.646553647188731 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622295 chr7:91622303 nonsynonymous SNV 1.000 0 29 hm5C_associated_SNPs_7389 5 Uncertain significance Romano-Ward syndrome RCV000354957.1
3875 chr7 91622303 91622303 1 + G C rs144888041 91622298 + 91622278 91622318 41 GTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTAAAC GTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTAAAC < 41bp 1 0.430714280703727 1 0.447132378816605 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622298 chr7:91622303 nonsynonymous SNV 1.000 0 26 hm5C_associated_SNPs_7390 5 Likely benign not provided RCV000170646.3
3875 chr7 91622303 91622303 1 + G C rs144888041 91622298 + 91622278 91622318 41 GTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTAAAC GTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTAAAC < 41bp 1 0.430714280703727 1 0.447132378816605 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622298 chr7:91622303 nonsynonymous SNV 1.000 0 26 hm5C_associated_SNPs_7390 5 Uncertain significance not specified RCV000185491.2
3875 chr7 91622303 91622303 1 + G C rs144888041 91622298 + 91622278 91622318 41 GTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTAAAC GTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTAAAC < 41bp 1 0.430714280703727 1 0.447132378816605 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622298 chr7:91622303 nonsynonymous SNV 1.000 0 26 hm5C_associated_SNPs_7390 5 other Long QT syndrome RCV000197421.4
3875 chr7 91622303 91622303 1 + G C rs144888041 91622298 + 91622278 91622318 41 GTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTAAAC GTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTAAAC < 41bp 1 0.430714280703727 1 0.447132378816605 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622298 chr7:91622303 nonsynonymous SNV 1.000 0 26 hm5C_associated_SNPs_7390 5 Likely benign Cardiovascular phenotype RCV000242948.1
3875 chr7 91622303 91622303 1 + G C rs144888041 91622298 + 91622278 91622318 41 GTGAGTTGGCTGGGAAGCAGCATGAGATTGAAGAGCTAAAC GTGAGTTGGCTGGGAAGCAGCATGACATTGAAGAGCTAAAC < 41bp 1 0.430714280703727 1 0.447132378816605 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91622298 chr7:91622303 nonsynonymous SNV 1.000 0 26 hm5C_associated_SNPs_7390 5 Uncertain significance Romano-Ward syndrome RCV000354957.1
3875 chr7 91714870 91714870 1 + A G rs201958512 91714852 + 91714832 91714872 41 TGAAGGCATGCAGGTGCTTTCTCTCACTGAGTCTCCCTATA TGAAGGCATGCAGGTGCTTTCTCTCACTGAGTCTCCCTGTA < 41bp 1 0.265544762863167 1 0.0507204234600067 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91714852 chr7:91714870 nonsynonymous SNV 0.467 0 39 hm5C_associated_SNPs_7391 1 Uncertain significance not provided RCV000171586.1
3875 chr7 91714870 91714870 1 + A G rs201958512 91714856 + 91714836 91714876 41 GGCATGCAGGTGCTTTCTCTCACTGAGTCTCCCTATAGTGA GGCATGCAGGTGCTTTCTCTCACTGAGTCTCCCTGTAGTGA < 41bp 1 0.429409075487744 1 0.107188999652863 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91714856 chr7:91714870 nonsynonymous SNV 0.467 0 35 hm5C_associated_SNPs_7392 1 Uncertain significance not provided RCV000171586.1
3875 chr7 91714870 91714870 1 + A G rs201958512 91714864 + 91714844 91714884 41 GGTGCTTTCTCTCACTGAGTCTCCCTATAGTGATGGAGAGG GGTGCTTTCTCTCACTGAGTCTCCCTGTAGTGATGGAGAGG < 41bp 1 0.210452970025075 1 0.314582973718643 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91714864 chr7:91714870 nonsynonymous SNV 0.467 0 27 hm5C_associated_SNPs_7393 1 Uncertain significance not provided RCV000171586.1
3875 chr7 91714870 91714870 1 + A G rs201958512 91714867 + 91714847 91714887 41 GCTTTCTCTCACTGAGTCTCCCTATAGTGATGGAGAGGACC GCTTTCTCTCACTGAGTCTCCCTGTAGTGATGGAGAGGACC < 41bp 1 0.0397416145510948 1 0.0906060039997101 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91714867 chr7:91714870 nonsynonymous SNV 0.467 0 24 hm5C_associated_SNPs_7394 1 Uncertain significance not provided RCV000171586.1
3875 chr7 91714870 91714870 1 + A G rs201958512 91714868 + 91714848 91714888 41 CTTTCTCTCACTGAGTCTCCCTATAGTGATGGAGAGGACCA CTTTCTCTCACTGAGTCTCCCTGTAGTGATGGAGAGGACCA < 41bp 1 0.335828845186669 1 0.169890075922012 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91714868 chr7:91714870 nonsynonymous SNV 0.467 0 23 hm5C_associated_SNPs_7395 1 Uncertain significance not provided RCV000171586.1
3875 chr7 94057007 94057007 1 + C T rs34691365 94057027 + 94057007 94057047 41 CGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCAC TGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCAC < 41bp 1 0.119116859684836 1 0.0228131115436554 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057027 chr7:94057007 synonymous SNV . 0 1 hm5C_associated_SNPs_7401 3 Likely benign Osteogenesis imperfecta RCV000029604.1
3875 chr7 94057007 94057007 1 + C T rs34691365 94057027 + 94057007 94057047 41 CGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCAC TGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCAC < 41bp 1 0.119116859684836 1 0.0228131115436554 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057027 chr7:94057007 synonymous SNV . 0 1 hm5C_associated_SNPs_7401 3 Likely benign Osteogenesis Imperfecta, Dominant RCV000302545.1
3875 chr7 94057007 94057007 1 + C T rs34691365 94057027 + 94057007 94057047 41 CGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCAC TGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCAC < 41bp 1 0.119116859684836 1 0.0228131115436554 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057027 chr7:94057007 synonymous SNV . 0 1 hm5C_associated_SNPs_7401 3 Likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient RCV000402770.1
3875 chr7 107357688 107357688 1 + G C rs76820337 107357694 + 107357674 107357714 41 GCTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTAAG GCTGGCGGGCGCCTCTAGTCCCAGCTATTTGGGAGGCTAAG < 41bp 1 0.456343559800065 1 0.434646219015121 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC26A4 ENSG00000091137 UTR3 Human protein_coding chr7:107357694 chr7:107357688 . . 0 15 hm5C_associated_SNPs_7492 2 Likely benign Pendred's syndrome RCV000303741.1
3875 chr7 107357688 107357688 1 + G C rs76820337 107357694 + 107357674 107357714 41 GCTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTAAG GCTGGCGGGCGCCTCTAGTCCCAGCTATTTGGGAGGCTAAG < 41bp 1 0.456343559800065 1 0.434646219015121 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC26A4 ENSG00000091137 UTR3 Human protein_coding chr7:107357694 chr7:107357688 . . 0 15 hm5C_associated_SNPs_7492 2 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000406812.1
3875 chr7 107357688 107357688 1 + G C rs76820337 107357695 + 107357675 107357715 41 CTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGG CTGGCGGGCGCCTCTAGTCCCAGCTATTTGGGAGGCTAAGG < 41bp 1 0.726611260630155 1 0.429807841777802 experiment 0.546777478739691 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC26A4 ENSG00000091137 UTR3 Human protein_coding chr7:107357695 chr7:107357688 . . 0 14 hm5C_associated_SNPs_7493 2 Likely benign Pendred's syndrome RCV000303741.1
3875 chr7 107357688 107357688 1 + G C rs76820337 107357695 + 107357675 107357715 41 CTGGCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGG CTGGCGGGCGCCTCTAGTCCCAGCTATTTGGGAGGCTAAGG < 41bp 1 0.726611260630155 1 0.429807841777802 experiment 0.546777478739691 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC26A4 ENSG00000091137 UTR3 Human protein_coding chr7:107357695 chr7:107357688 . . 0 14 hm5C_associated_SNPs_7493 2 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000406812.1
3875 chr7 107357688 107357688 1 + G C rs76820337 107357698 + 107357678 107357718 41 GCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAG GCGGGCGCCTCTAGTCCCAGCTATTTGGGAGGCTAAGGCAG < 41bp 1 0.383421267544581 1 0.219679236412048 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC26A4 ENSG00000091137 UTR3 Human protein_coding chr7:107357698 chr7:107357688 . . 0 11 hm5C_associated_SNPs_7494 2 Likely benign Pendred's syndrome RCV000303741.1
3875 chr7 107357688 107357688 1 + G C rs76820337 107357698 + 107357678 107357718 41 GCGGGCGCCTGTAGTCCCAGCTATTTGGGAGGCTAAGGCAG GCGGGCGCCTCTAGTCCCAGCTATTTGGGAGGCTAAGGCAG < 41bp 1 0.383421267544581 1 0.219679236412048 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC26A4 ENSG00000091137 UTR3 Human protein_coding chr7:107357698 chr7:107357688 . . 0 11 hm5C_associated_SNPs_7494 2 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000406812.1
3875 chr7 107559732 107559732 1 + G T rs17154615 107559739 + 107559719 107559759 41 TATATTTTTTTCTGAAATTTCCTGGGAGCTTTTGTAGAAGT TATATTTTTTTCTTAAATTTCCTGGGAGCTTTTGTAGAAGT < 41bp 1 0.257030507628281 1 0.349120646715164 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DLD ENSG00000091140 UTR3 Human protein_coding chr7:107559739 chr7:107559732 . . 0 14 hm5C_associated_SNPs_7496 3 Benign Leigh syndrome RCV000313165.1
3875 chr7 107559732 107559732 1 + G T rs17154615 107559739 + 107559719 107559759 41 TATATTTTTTTCTGAAATTTCCTGGGAGCTTTTGTAGAAGT TATATTTTTTTCTTAAATTTCCTGGGAGCTTTTGTAGAAGT < 41bp 1 0.257030507628281 1 0.349120646715164 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DLD ENSG00000091140 UTR3 Human protein_coding chr7:107559739 chr7:107559732 . . 0 14 hm5C_associated_SNPs_7496 3 Benign Maple syrup urine disease RCV000365418.1
3875 chr7 107559732 107559732 1 + G T rs17154615 107559739 + 107559719 107559759 41 TATATTTTTTTCTGAAATTTCCTGGGAGCTTTTGTAGAAGT TATATTTTTTTCTTAAATTTCCTGGGAGCTTTTGTAGAAGT < 41bp 1 0.257030507628281 1 0.349120646715164 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DLD ENSG00000091140 UTR3 Human protein_coding chr7:107559739 chr7:107559732 . . 0 14 hm5C_associated_SNPs_7496 3 Benign Pyruvate dehydrogenase complex deficiency RCV000392922.1
3875 chr7 116437606 116437606 1 + G A rs1621 116437607 + 116437587 116437627 41 TCTGTGGAATTTTGTGCTTGCTACTGTATAGTGCATGTGGT TCTGTGGAATTTTGTGCTTACTACTGTATAGTGCATGTGGT < 41bp 1 0.478570962049128 1 0.111973226070404 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MET ENSG00000105976 UTR3 Human protein_coding chr7:116437607 chr7:116437606 . . 0 20 hm5C_associated_SNPs_7501 1 Benign Renal cell carcinoma, papillary, 1 RCV000300643.1
3875 chr7 128478820 128478820 1 + C T rs115140972 128478838 + 128478818 128478858 41 CCCATCACCCGCAGTCCCTTCCCTGTCCATGTGTCGGAAGG CCTATCACCCGCAGTCCCTTCCCTGTCCATGTGTCGGAAGG < 41bp 1 0.0727797239685108 1 0.0361427962779999 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FLNC ENSG00000128591 CDS Human protein_coding chr7:128478838 chr7:128478820 synonymous SNV . 0 3 hm5C_associated_SNPs_7518 1 other not specified RCV000117064.3
3875 chr7 128491324 128491324 1 + C T rs181067717 128491320 + 128491300 128491340 41 TTCTATGTGGATGCCATCAACAGCCGCCATGTCAGTGCCTA TTCTATGTGGATGCCATCAACAGCTGCCATGTCAGTGCCTA < 41bp 1 0.442936941614029 1 0.802037477493286 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FLNC ENSG00000128591 CDS Human protein_coding chr7:128491320 chr7:128491324 nonsynonymous SNV 1.000 3 25 hm5C_associated_SNPs_7519 1 other not specified RCV000177767.3
3875 chr7 128491338 128491338 1 + C T rs117517372 128491320 + 128491300 128491340 41 TTCTATGTGGATGCCATCAACAGCCGCCATGTCAGTGCCTA TTCTATGTGGATGCCATCAACAGCCGCCATGTCAGTGCTTA < 41bp 1 0.322531969971233 1 0.755885899066925 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FLNC ENSG00000128591 CDS Human protein_coding chr7:128491320 chr7:128491338 synonymous SNV . 0 39 hm5C_associated_SNPs_7520 1 other not specified RCV000117078.4
3875 chr7 142459659 142459659 1 + G A rs111033564 142459655 + 142459635 142459675 41 GTGAGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAA GTGAGACTGGGAGAGCACAACATCAAAGTCCTGGAGGGGAA < 41bp 1 0.78915931522016 1 0.16967311501503 experiment 0.421681369559679 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459655 chr7:142459659 nonsynonymous SNV 0.220 1 25 hm5C_associated_SNPs_7584 1 Pathogenic Hereditary pancreatitis RCV000012655.24
3875 chr7 142459659 142459659 1 + G A rs111033564 142459658 + 142459638 142459678 41 AGACTGGGAGAGCACAACATCGAAGTCCTGGAGGGGAATGA AGACTGGGAGAGCACAACATCAAAGTCCTGGAGGGGAATGA < 41bp 1 0.725831448369616 1 0.292337596416473 experiment 0.548337103260768 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459658 chr7:142459659 nonsynonymous SNV 0.220 1 22 hm5C_associated_SNPs_7585 1 Pathogenic Hereditary pancreatitis RCV000012655.24
3875 chr7 142459659 142459659 1 + G A rs111033564 142459664 + 142459644 142459684 41 GGAGAGCACAACATCGAAGTCCTGGAGGGGAATGAGCAGTT GGAGAGCACAACATCAAAGTCCTGGAGGGGAATGAGCAGTT < 41bp 1 0.525690733274522 1 0.246982157230377 experiment 0.948618533450956 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459664 chr7:142459659 nonsynonymous SNV 0.220 1 16 hm5C_associated_SNPs_7586 1 Pathogenic Hereditary pancreatitis RCV000012655.24
3875 chr7 142459703 142459703 1 + C T rs139664510 142459685 + 142459665 142459705 41 CTGGAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATCAT CTGGAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATTAT < 41bp 1 0.628341452876079 1 0.0469895303249359 experiment 0.743317094247842 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459685 chr7:142459703 synonymous SNV . 0 39 hm5C_associated_SNPs_7593 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459688 + 142459668 142459708 41 GAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATCATCCG GAGGGGAATGAGCAGTTCATCAATGCAGCCAAGATTATCCG < 41bp 1 0.603991195093371 1 0.312358736991882 experiment 0.792017609813257 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459688 chr7:142459703 synonymous SNV . 0 36 hm5C_associated_SNPs_7594 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459693 + 142459673 142459713 41 GAATGAGCAGTTCATCAATGCAGCCAAGATCATCCGCCACC GAATGAGCAGTTCATCAATGCAGCCAAGATTATCCGCCACC < 41bp 1 0.497535370238124 1 0.0478076636791229 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459693 chr7:142459703 synonymous SNV . 0 31 hm5C_associated_SNPs_7595 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459696 + 142459676 142459716 41 TGAGCAGTTCATCAATGCAGCCAAGATCATCCGCCACCCCC TGAGCAGTTCATCAATGCAGCCAAGATTATCCGCCACCCCC < 41bp 1 0.352568253166292 1 0.187770694494247 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459696 chr7:142459703 synonymous SNV . 0 28 hm5C_associated_SNPs_7596 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459706 + 142459686 142459726 41 ATCAATGCAGCCAAGATCATCCGCCACCCCCAATACGACAG ATCAATGCAGCCAAGATTATCCGCCACCCCCAATACGACAG < 41bp 1 0.371813462379527 1 0.440144091844559 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459706 chr7:142459703 synonymous SNV . 0 18 hm5C_associated_SNPs_7597 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459709 + 142459689 142459729 41 AATGCAGCCAAGATCATCCGCCACCCCCAATACGACAGGAA AATGCAGCCAAGATTATCCGCCACCCCCAATACGACAGGAA < 41bp 1 0.108070780879589 1 0.0706679224967957 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459709 chr7:142459703 synonymous SNV . 0 15 hm5C_associated_SNPs_7598 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459710 + 142459690 142459730 41 ATGCAGCCAAGATCATCCGCCACCCCCAATACGACAGGAAG ATGCAGCCAAGATTATCCGCCACCCCCAATACGACAGGAAG < 41bp 1 0.179196631594745 1 0.0651943981647491 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459710 chr7:142459703 synonymous SNV . 0 14 hm5C_associated_SNPs_7599 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459712 + 142459692 142459732 41 GCAGCCAAGATCATCCGCCACCCCCAATACGACAGGAAGAC GCAGCCAAGATTATCCGCCACCCCCAATACGACAGGAAGAC < 41bp 1 0.133816938296787 1 0.0511132776737213 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459712 chr7:142459703 synonymous SNV . 0 12 hm5C_associated_SNPs_7600 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459713 + 142459693 142459733 41 CAGCCAAGATCATCCGCCACCCCCAATACGACAGGAAGACT CAGCCAAGATTATCCGCCACCCCCAATACGACAGGAAGACT < 41bp 1 0.477210405292505 1 0.524470388889313 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459713 chr7:142459703 synonymous SNV . 0 11 hm5C_associated_SNPs_7601 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459714 + 142459694 142459734 41 AGCCAAGATCATCCGCCACCCCCAATACGACAGGAAGACTC AGCCAAGATTATCCGCCACCCCCAATACGACAGGAAGACTC < 41bp 1 0.499078114196151 1 0.166388213634491 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459714 chr7:142459703 synonymous SNV . 0 10 hm5C_associated_SNPs_7602 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459715 + 142459695 142459735 41 GCCAAGATCATCCGCCACCCCCAATACGACAGGAAGACTCT GCCAAGATTATCCGCCACCCCCAATACGACAGGAAGACTCT < 41bp 1 0.24490248951228 1 0.235744386911392 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459715 chr7:142459703 synonymous SNV . 0 9 hm5C_associated_SNPs_7603 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142459703 142459703 1 + C T rs139664510 142459716 + 142459696 142459736 41 CCAAGATCATCCGCCACCCCCAATACGACAGGAAGACTCTG CCAAGATTATCCGCCACCCCCAATACGACAGGAAGACTCTG < 41bp 1 0.486183210586067 1 0.127536237239838 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459716 chr7:142459703 synonymous SNV . 0 8 hm5C_associated_SNPs_7604 1 Benign Hereditary pancreatitis RCV000468581.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460295 + 142460275 142460315 41 CTCACAGCCGACTACCCAGACGAGCTGCAGTGCCTGGATGC CTCACAGCCGACTACCCAGACGAGCTGCAGTGCCTGGACGC < 41bp 1 0.406253899841132 1 0.643240809440613 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460295 chr7:142460313 synonymous SNV . 0 39 hm5C_associated_SNPs_7629 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460295 + 142460275 142460315 41 CTCACAGCCGACTACCCAGACGAGCTGCAGTGCCTGGATGC CTCACAGCCGACTACCCAGACGAGCTGCAGTGCCTGGACGC < 41bp 1 0.406253899841132 1 0.643240809440613 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460295 chr7:142460313 synonymous SNV . 0 39 hm5C_associated_SNPs_7629 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460299 + 142460279 142460319 41 CAGCCGACTACCCAGACGAGCTGCAGTGCCTGGATGCTCCT CAGCCGACTACCCAGACGAGCTGCAGTGCCTGGACGCTCCT < 41bp 1 0.676885665575415 1 0.259492725133896 experiment 0.64622866884917 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460299 chr7:142460313 synonymous SNV . 0 35 hm5C_associated_SNPs_7630 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460299 + 142460279 142460319 41 CAGCCGACTACCCAGACGAGCTGCAGTGCCTGGATGCTCCT CAGCCGACTACCCAGACGAGCTGCAGTGCCTGGACGCTCCT < 41bp 1 0.676885665575415 1 0.259492725133896 experiment 0.64622866884917 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460299 chr7:142460313 synonymous SNV . 0 35 hm5C_associated_SNPs_7630 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460302 + 142460282 142460322 41 CCGACTACCCAGACGAGCTGCAGTGCCTGGATGCTCCTGTG CCGACTACCCAGACGAGCTGCAGTGCCTGGACGCTCCTGTG < 41bp 1 0.267759009699673 1 0.150490939617157 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460302 chr7:142460313 synonymous SNV . 0 32 hm5C_associated_SNPs_7631 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460302 + 142460282 142460322 41 CCGACTACCCAGACGAGCTGCAGTGCCTGGATGCTCCTGTG CCGACTACCCAGACGAGCTGCAGTGCCTGGACGCTCCTGTG < 41bp 1 0.267759009699673 1 0.150490939617157 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460302 chr7:142460313 synonymous SNV . 0 32 hm5C_associated_SNPs_7631 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460307 + 142460287 142460327 41 TACCCAGACGAGCTGCAGTGCCTGGATGCTCCTGTGCTGAG TACCCAGACGAGCTGCAGTGCCTGGACGCTCCTGTGCTGAG < 41bp 1 0.175151852786788 1 0.167774438858032 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460307 chr7:142460313 synonymous SNV . 0 27 hm5C_associated_SNPs_7632 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460307 + 142460287 142460327 41 TACCCAGACGAGCTGCAGTGCCTGGATGCTCCTGTGCTGAG TACCCAGACGAGCTGCAGTGCCTGGACGCTCCTGTGCTGAG < 41bp 1 0.175151852786788 1 0.167774438858032 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460307 chr7:142460313 synonymous SNV . 0 27 hm5C_associated_SNPs_7632 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460315 + 142460295 142460335 41 CGAGCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTA CGAGCTGCAGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTA < 41bp 1 0.454526266693577 1 0.321734607219696 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460315 chr7:142460313 synonymous SNV . 0 19 hm5C_associated_SNPs_7633 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460315 + 142460295 142460335 41 CGAGCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTA CGAGCTGCAGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTA < 41bp 1 0.454526266693577 1 0.321734607219696 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460315 chr7:142460313 synonymous SNV . 0 19 hm5C_associated_SNPs_7633 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460317 + 142460297 142460337 41 AGCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAG AGCTGCAGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTAAG < 41bp 1 0.188069858777767 1 0.358779191970825 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460317 chr7:142460313 synonymous SNV . 0 17 hm5C_associated_SNPs_7634 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460317 + 142460297 142460337 41 AGCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAG AGCTGCAGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTAAG < 41bp 1 0.188069858777767 1 0.358779191970825 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460317 chr7:142460313 synonymous SNV . 0 17 hm5C_associated_SNPs_7634 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460318 + 142460298 142460338 41 GCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAGT GCTGCAGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTAAGT < 41bp 1 0.454859955944743 1 0.146195262670517 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460318 chr7:142460313 synonymous SNV . 0 16 hm5C_associated_SNPs_7635 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460318 + 142460298 142460338 41 GCTGCAGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAGT GCTGCAGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTAAGT < 41bp 1 0.454859955944743 1 0.146195262670517 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460318 chr7:142460313 synonymous SNV . 0 16 hm5C_associated_SNPs_7635 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460323 + 142460303 142460343 41 AGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAA AGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTAAGTGTGAA < 41bp 1 0.517053558975489 1 0.0758571326732635 experiment 0.965892882049022 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460323 chr7:142460313 synonymous SNV . 0 11 hm5C_associated_SNPs_7636 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460323 + 142460303 142460343 41 AGTGCCTGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAA AGTGCCTGGACGCTCCTGTGCTGAGCCAGGCTAAGTGTGAA < 41bp 1 0.517053558975489 1 0.0758571326732635 experiment 0.965892882049022 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460323 chr7:142460313 synonymous SNV . 0 11 hm5C_associated_SNPs_7636 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460328 + 142460308 142460348 41 CTGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTC CTGGACGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTC < 41bp 1 0.360834460012183 1 0.220748424530029 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460328 chr7:142460313 synonymous SNV . 0 6 hm5C_associated_SNPs_7637 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460328 + 142460308 142460348 41 CTGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTC CTGGACGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTC < 41bp 1 0.360834460012183 1 0.220748424530029 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460328 chr7:142460313 synonymous SNV . 0 6 hm5C_associated_SNPs_7637 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460329 + 142460309 142460349 41 TGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCC TGGACGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCC < 41bp 1 0.560293894795666 1 0.674155116081238 experiment 0.879412210408669 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460329 chr7:142460313 synonymous SNV . 0 5 hm5C_associated_SNPs_7638 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460329 + 142460309 142460349 41 TGGATGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCC TGGACGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCC < 41bp 1 0.560293894795666 1 0.674155116081238 experiment 0.879412210408669 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460329 chr7:142460313 synonymous SNV . 0 5 hm5C_associated_SNPs_7638 2 Benign not specified RCV000244488.1
3875 chr7 142460313 142460313 1 + T C rs6666 142460333 + 142460313 142460353 41 TGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACC CGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACC < 41bp 1 0.399015506183389 1 0.13581782579422 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460333 chr7:142460313 synonymous SNV . 0 1 hm5C_associated_SNPs_7639 2 Likely benign Hereditary pancreatitis RCV000231064.2
3875 chr7 142460313 142460313 1 + T C rs6666 142460333 + 142460313 142460353 41 TGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACC CGCTCCTGTGCTGAGCCAGGCTAAGTGTGAAGCCTCCTACC < 41bp 1 0.399015506183389 1 0.13581782579422 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460333 chr7:142460313 synonymous SNV . 0 1 hm5C_associated_SNPs_7639 2 Benign not specified RCV000244488.1
3875 chr7 142460394 142460394 1 + T C rs377124851 142460379 + 142460359 142460399 41 AAGATTACCAGCAACATGTTCTGTGTGGGCTTCCTTGAGGG AAGATTACCAGCAACATGTTCTGTGTGGGCTTCCTCGAGGG < 41bp 1 0.388880867993066 1 0.252645611763 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460379 chr7:142460394 synonymous SNV . 0 36 hm5C_associated_SNPs_7653 1 Likely benign Hereditary pancreatitis RCV000460739.1
3875 chr7 142460394 142460394 1 + T C rs377124851 142460388 + 142460368 142460408 41 AGCAACATGTTCTGTGTGGGCTTCCTTGAGGGAGGCAAGGA AGCAACATGTTCTGTGTGGGCTTCCTCGAGGGAGGCAAGGA < 41bp 1 0.104188703463399 1 0.047391951084137 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460388 chr7:142460394 synonymous SNV . 0 27 hm5C_associated_SNPs_7654 1 Likely benign Hereditary pancreatitis RCV000460739.1
3875 chr7 142460394 142460394 1 + T C rs377124851 142460391 + 142460371 142460411 41 AACATGTTCTGTGTGGGCTTCCTTGAGGGAGGCAAGGATTC AACATGTTCTGTGTGGGCTTCCTCGAGGGAGGCAAGGATTC < 41bp 1 0.0774010058940439 1 0.183925777673721 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460391 chr7:142460394 synonymous SNV . 0 24 hm5C_associated_SNPs_7655 1 Likely benign Hereditary pancreatitis RCV000460739.1
3875 chr7 142460394 142460394 1 + T C rs377124851 142460403 + 142460383 142460423 41 GTGGGCTTCCTTGAGGGAGGCAAGGATTCATGTCAGGTGAT GTGGGCTTCCTCGAGGGAGGCAAGGATTCATGTCAGGTGAT < 41bp 1 0.576131448224054 1 0.486284077167511 experiment 0.847737103551893 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460403 chr7:142460394 synonymous SNV . 0 12 hm5C_associated_SNPs_7656 1 Likely benign Hereditary pancreatitis RCV000460739.1
3875 chr7 142460394 142460394 1 + T C rs377124851 142460411 + 142460391 142460431 41 CCTTGAGGGAGGCAAGGATTCATGTCAGGTGATTTGACCAA CCTCGAGGGAGGCAAGGATTCATGTCAGGTGATTTGACCAA < 41bp 1 0.533209419866781 1 0.291917592287064 experiment 0.933581160266438 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460411 chr7:142460394 synonymous SNV . 0 4 hm5C_associated_SNPs_7657 1 Likely benign Hereditary pancreatitis RCV000460739.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460733 + 142460713 142460753 41 CCCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACA CCCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGCACA < 41bp 1 0.100610028133324 1 0.0910336077213287 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460733 chr7:142460750 nonsynonymous SNV 0.009 5 38 hm5C_associated_SNPs_7658 2 Likely benign not specified RCV000244167.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460733 + 142460713 142460753 41 CCCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACA CCCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGCACA < 41bp 1 0.100610028133324 1 0.0910336077213287 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460733 chr7:142460750 nonsynonymous SNV 0.009 5 38 hm5C_associated_SNPs_7658 2 Benign Hereditary pancreatitis RCV000472464.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460734 + 142460714 142460754 41 CCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACAG CCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGCACAG < 41bp 1 0.108095653242716 1 0.115667879581451 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460734 chr7:142460750 nonsynonymous SNV 0.009 5 37 hm5C_associated_SNPs_7659 2 Likely benign not specified RCV000244167.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460734 + 142460714 142460754 41 CCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACAG CCCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGCACAG < 41bp 1 0.108095653242716 1 0.115667879581451 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460734 chr7:142460750 nonsynonymous SNV 0.009 5 37 hm5C_associated_SNPs_7659 2 Benign Hereditary pancreatitis RCV000472464.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460735 + 142460715 142460755 41 CCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACAGC CCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGCACAGC < 41bp 1 0.47187063514211 1 0.228127956390381 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460735 chr7:142460750 nonsynonymous SNV 0.009 5 36 hm5C_associated_SNPs_7660 2 Likely benign not specified RCV000244167.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460735 + 142460715 142460755 41 CCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGGACAGC CCAGGGTGATTCTGGTGGCCCTGTGGTCTGCAATGCACAGC < 41bp 1 0.47187063514211 1 0.228127956390381 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460735 chr7:142460750 nonsynonymous SNV 0.009 5 36 hm5C_associated_SNPs_7660 2 Benign Hereditary pancreatitis RCV000472464.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460745 + 142460725 142460765 41 TCTGGTGGCCCTGTGGTCTGCAATGGACAGCTCCAAGGAGT TCTGGTGGCCCTGTGGTCTGCAATGCACAGCTCCAAGGAGT < 41bp 1 0.327000208664685 1 0.0750491917133331 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460745 chr7:142460750 nonsynonymous SNV 0.009 5 26 hm5C_associated_SNPs_7661 2 Likely benign not specified RCV000244167.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460745 + 142460725 142460765 41 TCTGGTGGCCCTGTGGTCTGCAATGGACAGCTCCAAGGAGT TCTGGTGGCCCTGTGGTCTGCAATGCACAGCTCCAAGGAGT < 41bp 1 0.327000208664685 1 0.0750491917133331 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460745 chr7:142460750 nonsynonymous SNV 0.009 5 26 hm5C_associated_SNPs_7661 2 Benign Hereditary pancreatitis RCV000472464.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460757 + 142460737 142460777 41 GTGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGG GTGGTCTGCAATGCACAGCTCCAAGGAGTTGTCTCCTGGGG < 41bp 1 0.260905746679704 1 0.428940623998642 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460757 chr7:142460750 nonsynonymous SNV 0.009 5 14 hm5C_associated_SNPs_7662 2 Likely benign not specified RCV000244167.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460757 + 142460737 142460777 41 GTGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGG GTGGTCTGCAATGCACAGCTCCAAGGAGTTGTCTCCTGGGG < 41bp 1 0.260905746679704 1 0.428940623998642 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460757 chr7:142460750 nonsynonymous SNV 0.009 5 14 hm5C_associated_SNPs_7662 2 Benign Hereditary pancreatitis RCV000472464.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460758 + 142460738 142460778 41 TGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGGT TGGTCTGCAATGCACAGCTCCAAGGAGTTGTCTCCTGGGGT < 41bp 1 0.430233268230852 1 0.342211931943893 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460758 chr7:142460750 nonsynonymous SNV 0.009 5 13 hm5C_associated_SNPs_7663 2 Likely benign not specified RCV000244167.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460758 + 142460738 142460778 41 TGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGGT TGGTCTGCAATGCACAGCTCCAAGGAGTTGTCTCCTGGGGT < 41bp 1 0.430233268230852 1 0.342211931943893 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460758 chr7:142460750 nonsynonymous SNV 0.009 5 13 hm5C_associated_SNPs_7663 2 Benign Hereditary pancreatitis RCV000472464.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460769 + 142460749 142460789 41 GGACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGC GCACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGC < 41bp 1 0.642995178365921 1 0.763386011123657 experiment 0.714009643268157 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460769 chr7:142460750 nonsynonymous SNV 0.009 5 2 hm5C_associated_SNPs_7664 2 Likely benign not specified RCV000244167.1
3875 chr7 142460750 142460750 1 + G C rs189270875 142460769 + 142460749 142460789 41 GGACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGC GCACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGC < 41bp 1 0.642995178365921 1 0.763386011123657 experiment 0.714009643268157 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460769 chr7:142460750 nonsynonymous SNV 0.009 5 2 hm5C_associated_SNPs_7664 2 Benign Hereditary pancreatitis RCV000472464.1
3875 chr8 6302738 6302738 1 + G A rs146586991 6302737 + 6302717 6302757 41 GGCCGTGCAACTTCGAGTTGCGTGACTTCTGCCCCTGAAGA GGCCGTGCAACTTCGAGTTGCATGACTTCTGCCCCTGAAGA < 41bp 1 0.540838409847748 1 0.0531031787395477 experiment 0.918323180304505 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302737 chr8:6302738 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_7766 3 other not specified RCV000082201.5
3875 chr8 6302738 6302738 1 + G A rs146586991 6302737 + 6302717 6302757 41 GGCCGTGCAACTTCGAGTTGCGTGACTTCTGCCCCTGAAGA GGCCGTGCAACTTCGAGTTGCATGACTTCTGCCCCTGAAGA < 41bp 1 0.540838409847748 1 0.0531031787395477 experiment 0.918323180304505 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302737 chr8:6302738 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_7766 3 Uncertain significance Primary autosomal recessive microcephaly 1 RCV000146274.1
3875 chr8 6302738 6302738 1 + G A rs146586991 6302737 + 6302717 6302757 41 GGCCGTGCAACTTCGAGTTGCGTGACTTCTGCCCCTGAAGA GGCCGTGCAACTTCGAGTTGCATGACTTCTGCCCCTGAAGA < 41bp 1 0.540838409847748 1 0.0531031787395477 experiment 0.918323180304505 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302737 chr8:6302738 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_7766 3 Uncertain significance Primary Microcephaly, Recessive RCV000269717.1
3875 chr8 22022904 22022904 1 + C G rs373839736 22022924 + 22022904 22022944 41 CGCCGCCCCGCCAGCATGCCCGGCGTGGCCCGCCTGCCGCT GGCCGCCCCGCCAGCATGCCCGGCGTGGCCCGCCTGCCGCT < 41bp 1 0.768638002245623 1 0.778416037559509 experiment 0.462723995508755 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control BMP1 ENSG00000168487 UTR5 Human protein_coding chr8:22022924 chr8:22022904 . . 0 1 hm5C_associated_SNPs_7818 3 Likely benign Osteogenesis Imperfecta, Recessive RCV000279542.1
3875 chr8 22022904 22022904 1 + C G rs373839736 22022924 + 22022904 22022944 41 CGCCGCCCCGCCAGCATGCCCGGCGTGGCCCGCCTGCCGCT GGCCGCCCCGCCAGCATGCCCGGCGTGGCCCGCCTGCCGCT < 41bp 1 0.768638002245623 1 0.778416037559509 experiment 0.462723995508755 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control BMP1 ENSG00000168487 UTR5 Human protein_coding chr8:22022924 chr8:22022904 . . 0 1 hm5C_associated_SNPs_7818 3 Likely benign Idiopathic fibrosing alveolitis, chronic form RCV000295154.1
3875 chr8 22022904 22022904 1 + C G rs373839736 22022924 + 22022904 22022944 41 CGCCGCCCCGCCAGCATGCCCGGCGTGGCCCGCCTGCCGCT GGCCGCCCCGCCAGCATGCCCGGCGTGGCCCGCCTGCCGCT < 41bp 1 0.768638002245623 1 0.778416037559509 experiment 0.462723995508755 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control BMP1 ENSG00000168487 UTR5 Human protein_coding chr8:22022924 chr8:22022904 . . 0 1 hm5C_associated_SNPs_7818 3 Likely benign Pulmonary Surfactant Metabolism Dysfunction, Dominant RCV000389548.1
3875 chr8 38899570 38899570 1 + T C rs78451751 38899577 + 38899557 38899597 41 CTGATGAAGCCTATAGTGCTCCCTCCTGTGGTAATAAGTTG CTGATGAAGCCTACAGTGCTCCCTCCTGTGGTAATAAGTTG < 41bp 1 0.0967992519329792 1 0.0946750640869141 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control ADAM9 ENSG00000168615 CDS Human protein_coding chr8:38899577 chr8:38899570 synonymous SNV . 0 14 hm5C_associated_SNPs_7881 1 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000344937.1
3875 chr8 38899570 38899570 1 + T C rs78451751 38899581 + 38899561 38899601 41 TGAAGCCTATAGTGCTCCCTCCTGTGGTAATAAGTTGGTGG TGAAGCCTACAGTGCTCCCTCCTGTGGTAATAAGTTGGTGG < 41bp 1 0.180695872976099 1 0.597919225692749 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ADAM9 ENSG00000168615 CDS Human protein_coding chr8:38899581 chr8:38899570 synonymous SNV . 0 10 hm5C_associated_SNPs_7882 1 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000344937.1
3875 chr8 68074137 68074137 1 + G A rs16933182 68074141 + 68074121 68074161 41 GTTGACAGCATCATACGTTCCTTTATTCATGTATGTACTTT GTTGACAGCATCATACATTCCTTTATTCATGTATGTACTTT < 41bp 1 0.251894460447583 1 0.025249183177948 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CSPP1 ENSG00000104218 CDS Human protein_coding chr8:68074141 chr8:68074137 nonsynonymous SNV 0.999 0 17 hm5C_associated_SNPs_7951 1 Benign not specified RCV000440846.1
3875 chr8 74894627 74894627 1 + G A rs6472811 74894626 + 74894606 74894646 41 ACAAGCGACTCATTGACTTGCGCAGTCCTCAGATAGTTAAG ACAAGCGACTCATTGACTTGCACAGTCCTCAGATAGTTAAG < 41bp 1 0.57586062960565 1 0.229366362094879 experiment 0.848278740788699 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM70 ENSG00000244295 ncRNA_exonic Human processed_pseudogene chr8:74894626 chr8:74894627 . . 0 22 hm5C_associated_SNPs_7956 1 Benign Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000379126.1
3875 chr8 74894627 74894627 1 + G A rs6472811 74894628 + 74894608 74894648 41 AAGCGACTCATTGACTTGCGCAGTCCTCAGATAGTTAAGCA AAGCGACTCATTGACTTGCACAGTCCTCAGATAGTTAAGCA < 41bp 1 0.213158216067048 1 0.386548817157745 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM70 ENSG00000244295 ncRNA_exonic Human processed_pseudogene chr8:74894628 chr8:74894627 . . 0 20 hm5C_associated_SNPs_7957 1 Benign Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000379126.1
3875 chr8 74894641 74894641 1 + G A rs66498650 74894626 + 74894606 74894646 41 ACAAGCGACTCATTGACTTGCGCAGTCCTCAGATAGTTAAG ACAAGCGACTCATTGACTTGCGCAGTCCTCAGATAATTAAG < 41bp 1 0.608372657431159 1 0.343596696853638 experiment 0.783254685137681 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM70 ENSG00000244295 ncRNA_exonic Human processed_pseudogene chr8:74894626 chr8:74894641 . . 0 36 hm5C_associated_SNPs_7958 1 Likely benign Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000287020.1
3875 chr8 74894641 74894641 1 + G A rs66498650 74894628 + 74894608 74894648 41 AAGCGACTCATTGACTTGCGCAGTCCTCAGATAGTTAAGCA AAGCGACTCATTGACTTGCGCAGTCCTCAGATAATTAAGCA < 41bp 1 0.191750203033201 1 0.285202652215958 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM70 ENSG00000244295 ncRNA_exonic Human processed_pseudogene chr8:74894628 chr8:74894641 . . 0 34 hm5C_associated_SNPs_7959 1 Likely benign Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000287020.1
3875 chr8 96037287 96037287 1 + C A rs113557846 96037302 + 96037282 96037322 41 GGCATCCCCGGCCTGTGCTGCCGCCGGCCGCCTCTGGGTCT GGCATACCCGGCCTGTGCTGCCGCCGGCCGCCTCTGGGTCT < 41bp 1 0.299787684112711 1 0.263301193714142 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control NDUFAF6 ENSG00000156170 CDS Human protein_coding chr8:96037302 chr8:96037287 synonymous SNV . 0 6 hm5C_associated_SNPs_7973 1 Benign not specified RCV000124062.2
3875 chr8 100182333 100182333 1 + G C rs140848350 100182330 + 100182310 100182350 41 GATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGC GATCTTACTGCTTACCTGTACCACTTATTCCCTCTTTCAGC < 41bp 1 0.0509726506884614 1 0.0569774508476257 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control VPS13B ENSG00000132549 CDS Human protein_coding chr8:100182330 chr8:100182333 nonsynonymous SNV 0.987 0 24 hm5C_associated_SNPs_7982 3 other not specified RCV000081885.9
3875 chr8 100182333 100182333 1 + G C rs140848350 100182330 + 100182310 100182350 41 GATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGC GATCTTACTGCTTACCTGTACCACTTATTCCCTCTTTCAGC < 41bp 1 0.0509726506884614 1 0.0569774508476257 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control VPS13B ENSG00000132549 CDS Human protein_coding chr8:100182330 chr8:100182333 nonsynonymous SNV 0.987 0 24 hm5C_associated_SNPs_7982 3 Benign not provided RCV000224853.1
3875 chr8 100182333 100182333 1 + G C rs140848350 100182330 + 100182310 100182350 41 GATCTTACTGCTTACCTGTACCAGTTATTCCCTCTTTCAGC GATCTTACTGCTTACCTGTACCACTTATTCCCTCTTTCAGC < 41bp 1 0.0509726506884614 1 0.0569774508476257 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control VPS13B ENSG00000132549 CDS Human protein_coding chr8:100182330 chr8:100182333 nonsynonymous SNV 0.987 0 24 hm5C_associated_SNPs_7982 3 Likely benign Cohen syndrome RCV000306903.1
3875 chr8 125551385 125551385 1 + A G rs140365193 125551367 + 125551347 125551387 41 TCCGGCTGGCCCCGCTCAGTCACCCGCAGCAGGCGTGCAGT TCCGGCTGGCCCCGCTCAGTCACCCGCAGCAGGCGTGCGGT < 41bp 1 0.724499795005877 1 0.365175783634186 experiment 0.551000409988247 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NDUFB9 ENSG00000147684;ENSG00000147687 UTR5 Human other chr8:125551367 chr8:125551385 . . 0 39 hm5C_associated_SNPs_8016 1 Benign not specified RCV000127135.1
3875 chr8 125551385 125551385 1 + A G rs140365193 125551384 + 125551364 125551404 41 AGTCACCCGCAGCAGGCGTGCAGTTTCCCGGCTCTCCGCGC AGTCACCCGCAGCAGGCGTGCGGTTTCCCGGCTCTCCGCGC < 41bp 1 0.741662505836363 1 0.679103016853333 experiment 0.516674988327275 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control NDUFB9 ENSG00000147684;ENSG00000147687 UTR5 Human other chr8:125551384 chr8:125551385 . . 0 22 hm5C_associated_SNPs_8017 1 Benign not specified RCV000127135.1
3875 chr8 125551392 125551392 1 + C G rs79736226 125551384 + 125551364 125551404 41 AGTCACCCGCAGCAGGCGTGCAGTTTCCCGGCTCTCCGCGC AGTCACCCGCAGCAGGCGTGCAGTTTCCGGGCTCTCCGCGC < 41bp 1 0.720813005412827 1 0.204897820949554 experiment 0.558373989174347 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control NDUFB9 ENSG00000147684;ENSG00000147687 UTR5 Human other chr8:125551384 chr8:125551392 . . 0 29 hm5C_associated_SNPs_8018 1 Benign not specified RCV000127136.1
3875 chr8 145150833 145150833 1 + T C rs144257411 145150830 + 145150810 145150850 41 GGCAGGGGGTGCGGGGCTGGCCATGGCTCTGCATTCGGCTG GGCAGGGGGTGCGGGGCTGGCCACGGCTCTGCATTCGGCTG < 41bp 1 0.708686338659139 1 0.467003226280212 experiment 0.582627322681723 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CYC1 ENSG00000179091 CDS Human protein_coding chr8:145150830 chr8:145150833 nonsynonymous SNV 0.430 0 24 hm5C_associated_SNPs_8042 1 Likely benign not provided RCV000224646.1
3875 chr8 145583795 145583795 1 + C T rs147954962 145583775 + 145583755 145583795 41 TGCCCTTCTGGTCGCTTCAGCTGCTGCCTTCCAGGGTCTTC TGCCCTTCTGGTCGCTTCAGCTGCTGCCTTCCAGGGTCTTT < 41bp 1 0.300405006328744 1 0.0677160024642944 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SLC52A2 ENSG00000185803 CDS Human protein_coding chr8:145583775 chr8:145583795 synonymous SNV . 0 41 hm5C_associated_SNPs_8059 1 Likely benign not specified RCV000437879.1
3875 chr9 21859379 21859379 1 + T G rs62556500 21859391 + 21859371 21859411 41 ACCATACCTCAGATAGGGTCCACAGAATGGTCAGAAACCCT ACCATACCGCAGATAGGGTCCACAGAATGGTCAGAAACCCT < 41bp 1 0.311530670450125 1 0.251135289669037 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MTAP ENSG00000099810 CDS Human protein_coding chr9:21859391 chr9:21859379 synonymous SNV . 0 9 hm5C_associated_SNPs_8119 1 Likely benign Diaphyseal medullary stenosis with malignant fibrous histiocytoma RCV000377714.1
3875 chr9 35793054 35793054 1 + A T rs191155989 35793057 + 35793037 35793077 41 AGCAGGCCACCCACTTCATCCGGGCCAACGGGCGCAGTGAG AGCAGGCCACCCACTTCTTCCGGGCCAACGGGCGCAGTGAG < 41bp 1 0.573431167428663 1 0.938083648681641 experiment 0.853137665142674 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control NPR2 ENSG00000159899 CDS Human protein_coding chr9:35793057 chr9:35793054 nonsynonymous SNV 1.000 4 18 hm5C_associated_SNPs_8140 1 Uncertain significance Acromesomelic Dysplasia RCV000315791.1
3875 chr9 38396502 38396502 1 + G A rs4878199 38396501 + 38396481 38396521 41 GGTGCGGCCATCGCCCAGCACGTGGATGTTGACAAAGTTGC GGTGCGGCCATCGCCCAGCACATGGATGTTGACAAAGTTGC < 41bp 1 0.451775821253164 1 0.144369214773178 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ALDH1B1 ENSG00000137124 CDS Human protein_coding chr9:38396501 chr9:38396502 nonsynonymous SNV 0.009 0 22 hm5C_associated_SNPs_8154 1 Benign not specified RCV000123610.1
3875 chr9 71650752 71650752 1 + A G rs2481598 71650749 + 71650729 71650769 41 GGCCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCT GGCCTCCTGGCGTCACCCAGCCCGGCCCAGGCCCAGACCCT < 41bp 1 0.662945895449392 1 0.304737359285355 experiment 0.674108209101216 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FXN ENSG00000165060 CDS Human protein_coding chr9:71650749 chr9:71650752 synonymous SNV . 0 24 hm5C_associated_SNPs_8179 2 other not specified RCV000117105.4
3875 chr9 71650752 71650752 1 + A G rs2481598 71650749 + 71650729 71650769 41 GGCCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCT GGCCTCCTGGCGTCACCCAGCCCGGCCCAGGCCCAGACCCT < 41bp 1 0.662945895449392 1 0.304737359285355 experiment 0.674108209101216 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FXN ENSG00000165060 CDS Human protein_coding chr9:71650749 chr9:71650752 synonymous SNV . 0 24 hm5C_associated_SNPs_8179 2 Benign Cardiovascular phenotype RCV000252378.1
3875 chr9 71650752 71650752 1 + A G rs2481598 71650750 + 71650730 71650770 41 GCCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCTC GCCTCCTGGCGTCACCCAGCCCGGCCCAGGCCCAGACCCTC < 41bp 1 0.555280945655135 1 0.295556962490082 experiment 0.88943810868973 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FXN ENSG00000165060 CDS Human protein_coding chr9:71650750 chr9:71650752 synonymous SNV . 0 23 hm5C_associated_SNPs_8180 2 other not specified RCV000117105.4
3875 chr9 71650752 71650752 1 + A G rs2481598 71650750 + 71650730 71650770 41 GCCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCTC GCCTCCTGGCGTCACCCAGCCCGGCCCAGGCCCAGACCCTC < 41bp 1 0.555280945655135 1 0.295556962490082 experiment 0.88943810868973 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FXN ENSG00000165060 CDS Human protein_coding chr9:71650750 chr9:71650752 synonymous SNV . 0 23 hm5C_associated_SNPs_8180 2 Benign Cardiovascular phenotype RCV000252378.1
3875 chr9 71650752 71650752 1 + A G rs2481598 71650751 + 71650731 71650771 41 CCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCTCA CCTCCTGGCGTCACCCAGCCCGGCCCAGGCCCAGACCCTCA < 41bp 1 0.723402720834203 1 0.183262914419174 experiment 0.553194558331593 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FXN ENSG00000165060 CDS Human protein_coding chr9:71650751 chr9:71650752 synonymous SNV . 0 22 hm5C_associated_SNPs_8181 2 other not specified RCV000117105.4
3875 chr9 71650752 71650752 1 + A G rs2481598 71650751 + 71650731 71650771 41 CCTCCTGGCGTCACCCAGCCCAGCCCAGGCCCAGACCCTCA CCTCCTGGCGTCACCCAGCCCGGCCCAGGCCCAGACCCTCA < 41bp 1 0.723402720834203 1 0.183262914419174 experiment 0.553194558331593 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FXN ENSG00000165060 CDS Human protein_coding chr9:71650751 chr9:71650752 synonymous SNV . 0 22 hm5C_associated_SNPs_8181 2 Benign Cardiovascular phenotype RCV000252378.1
3875 chr9 71661361 71661361 1 + A G rs59907886 71661354 + 71661334 71661374 41 AATGTCAAAAAGCAGAGTGTCTATTTGATGAATTTGAGGAA AATGTCAAAAAGCAGAGTGTCTATTTGGTGAATTTGAGGAA < 41bp 1 0.21956388169216 1 0.0685542523860931 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control FXN ENSG00000165060 CDS Human protein_coding chr9:71661354 chr9:71661361 nonsynonymous SNV 0.005 0 28 hm5C_associated_SNPs_8186 1 Benign Cardiovascular phenotype RCV000247208.1
3875 chr9 100174444 100174444 1 + G C rs373486700 100174437 + 100174417 100174457 41 GGGAAACCGAAAGTGGGCGGCGGCCGCGGCGGGGCCCCTGG GGGAAACCGAAAGTGGGCGGCGGCCGCCGCGGGGCCCCTGG < 41bp 1 0.767780022047038 1 0.850878238677979 experiment 0.464439955905923 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control TDRD7 ENSG00000196116 UTR5 Human protein_coding chr9:100174437 chr9:100174444 . . 0 28 hm5C_associated_SNPs_8227 1 Uncertain significance Congenital cataract RCV000289812.1
3875 chr9 100234756 100234756 1 + G A rs41281938 100234769 + 100234749 100234789 41 GTGACAAGTCACTAGAGGTTCACCTGCAGGTACCACTGTGA GTGACAAATCACTAGAGGTTCACCTGCAGGTACCACTGTGA < 41bp 1 0.352723977357813 1 0.0448298454284668 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control TDRD7 ENSG00000196116 CDS Human protein_coding chr9:100234769 chr9:100234756 synonymous SNV . 0 8 hm5C_associated_SNPs_8228 1 Likely benign Congenital cataract RCV000387958.1
3875 chr9 103002466 103002466 1 + A G rs41312220 103002451 + 103002431 103002471 41 CGTGGTTGATGTCTTGACCTCATATGAAAGCTGCAATATAA CGTGGTTGATGTCTTGACCTCATATGAAAGCTGCAGTATAA < 41bp 1 0.157189315797049 1 0.44045814871788 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control INVS ENSG00000119509 CDS Human protein_coding chr9:103002451 chr9:103002466 nonsynonymous SNV 1.000 1 36 hm5C_associated_SNPs_8239 2 other not specified RCV000081632.5
3875 chr9 103002466 103002466 1 + A G rs41312220 103002451 + 103002431 103002471 41 CGTGGTTGATGTCTTGACCTCATATGAAAGCTGCAATATAA CGTGGTTGATGTCTTGACCTCATATGAAAGCTGCAGTATAA < 41bp 1 0.157189315797049 1 0.44045814871788 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control INVS ENSG00000119509 CDS Human protein_coding chr9:103002451 chr9:103002466 nonsynonymous SNV 1.000 1 36 hm5C_associated_SNPs_8239 2 other Nephronophthisis RCV000205481.4
3875 chr9 103008904 103008904 1 + G A rs116438342 103008902 + 103008882 103008922 41 TCAAGTTTTCTTACAGGAAACGGTTAAAGTGTTTTTAAAAC TCAAGTTTTCTTACAGGAAACGATTAAAGTGTTTTTAAAAC < 41bp 1 0.0591701253092929 1 0.260228753089905 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control INVS ENSG00000119509 CDS Human protein_coding chr9:103008902 chr9:103008904 nonsynonymous SNV 0.996 0 23 hm5C_associated_SNPs_8240 1 Benign not specified RCV000180316.1
3875 chr9 131085118 131085118 1 + C G rs372363685 131085127 + 131085107 131085147 41 ACCCGCCCATCCTCCGCGGACGCCCGCTGCCATGGCGACTC ACCCGCCCATCGTCCGCGGACGCCCGCTGCCATGGCGACTC < 41bp 1 0.515344129491876 1 0.0580699443817139 experiment 0.969311741016248 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control COQ4 ENSG00000167113 UTR5 Human protein_coding chr9:131085127 chr9:131085118 . . 0 12 hm5C_associated_SNPs_8296 1 Likely benign not specified RCV000433460.1
3875 chr9 131088076 131088076 1 + G A rs2270203 131088068 + 131088048 131088088 41 TGCCTTTCAGGGAGCGTCCCCGGATTTCGACATCCACCCTC TGCCTTTCAGGGAGCGTCCCCGGATTTCAACATCCACCCTC < 41bp 1 0.763867904294575 1 0.319317400455475 experiment 0.47226419141085 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control COQ4 ENSG00000167113 CDS Human protein_coding chr9:131088068 chr9:131088076 synonymous SNV . 0 29 hm5C_associated_SNPs_8297 1 other not specified RCV000116810.3
3875 chr9 131345032 131345032 1 + C T rs115428827 131345031 + 131345011 131345051 41 GCGTCGCCGGGCCCAGCTAGCCGATTCTTTCCATCTGCAGC GCGTCGCCGGGCCCAGCTAGCTGATTCTTTCCATCTGCAGC < 41bp 1 0.279127133701451 1 0.0467479825019836 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131345031 chr9:131345032 synonymous SNV . 0 22 hm5C_associated_SNPs_8308 3 Benign not specified RCV000128232.3
3875 chr9 131345032 131345032 1 + C T rs115428827 131345031 + 131345011 131345051 41 GCGTCGCCGGGCCCAGCTAGCCGATTCTTTCCATCTGCAGC GCGTCGCCGGGCCCAGCTAGCTGATTCTTTCCATCTGCAGC < 41bp 1 0.279127133701451 1 0.0467479825019836 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131345031 chr9:131345032 synonymous SNV . 0 22 hm5C_associated_SNPs_8308 3 Uncertain significance Early infantile epileptic encephalopathy 5 RCV000147611.1
3875 chr9 131345032 131345032 1 + C T rs115428827 131345031 + 131345011 131345051 41 GCGTCGCCGGGCCCAGCTAGCCGATTCTTTCCATCTGCAGC GCGTCGCCGGGCCCAGCTAGCTGATTCTTTCCATCTGCAGC < 41bp 1 0.279127133701451 1 0.0467479825019836 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131345031 chr9:131345032 synonymous SNV . 0 22 hm5C_associated_SNPs_8308 3 Benign Early infantile epileptic encephalopathy RCV000229212.2
3875 chr9 131351096 131351096 1 + G A rs150731568 131351098 + 131351078 131351118 41 GGATTTTTAGCAACAAGTGGCCCCCACGGATGATGAGACTG GGATTTTTAGCAACAAGTAGCCCCCACGGATGATGAGACTG < 41bp 1 0.0285635143721557 1 0.11132287979126 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351098 chr9:131351096 synonymous SNV . 0 19 hm5C_associated_SNPs_8309 2 Benign not specified RCV000128242.2
3875 chr9 131351096 131351096 1 + G A rs150731568 131351098 + 131351078 131351118 41 GGATTTTTAGCAACAAGTGGCCCCCACGGATGATGAGACTG GGATTTTTAGCAACAAGTAGCCCCCACGGATGATGAGACTG < 41bp 1 0.0285635143721557 1 0.11132287979126 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351098 chr9:131351096 synonymous SNV . 0 19 hm5C_associated_SNPs_8309 2 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000392021.1
3875 chr9 131351096 131351096 1 + G A rs150731568 131351099 + 131351079 131351119 41 GATTTTTAGCAACAAGTGGCCCCCACGGATGATGAGACTGG GATTTTTAGCAACAAGTAGCCCCCACGGATGATGAGACTGG < 41bp 1 0.163674900753012 1 0.322027325630188 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351099 chr9:131351096 synonymous SNV . 0 18 hm5C_associated_SNPs_8310 2 Benign not specified RCV000128242.2
3875 chr9 131351096 131351096 1 + G A rs150731568 131351099 + 131351079 131351119 41 GATTTTTAGCAACAAGTGGCCCCCACGGATGATGAGACTGG GATTTTTAGCAACAAGTAGCCCCCACGGATGATGAGACTGG < 41bp 1 0.163674900753012 1 0.322027325630188 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351099 chr9:131351096 synonymous SNV . 0 18 hm5C_associated_SNPs_8310 2 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000392021.1
3875 chr9 131351096 131351096 1 + G A rs150731568 131351100 + 131351080 131351120 41 ATTTTTAGCAACAAGTGGCCCCCACGGATGATGAGACTGGG ATTTTTAGCAACAAGTAGCCCCCACGGATGATGAGACTGGG < 41bp 1 0.0331725795964865 1 0.172164589166641 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351100 chr9:131351096 synonymous SNV . 0 17 hm5C_associated_SNPs_8311 2 Benign not specified RCV000128242.2
3875 chr9 131351096 131351096 1 + G A rs150731568 131351100 + 131351080 131351120 41 ATTTTTAGCAACAAGTGGCCCCCACGGATGATGAGACTGGG ATTTTTAGCAACAAGTAGCCCCCACGGATGATGAGACTGGG < 41bp 1 0.0331725795964865 1 0.172164589166641 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351100 chr9:131351096 synonymous SNV . 0 17 hm5C_associated_SNPs_8311 2 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000392021.1
3875 chr9 131351096 131351096 1 + G A rs150731568 131351104 + 131351084 131351124 41 TTAGCAACAAGTGGCCCCCACGGATGATGAGACTGGGAAGG TTAGCAACAAGTAGCCCCCACGGATGATGAGACTGGGAAGG < 41bp 1 0.149377868690945 1 0.731662273406982 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351104 chr9:131351096 synonymous SNV . 0 13 hm5C_associated_SNPs_8312 2 Benign not specified RCV000128242.2
3875 chr9 131351096 131351096 1 + G A rs150731568 131351104 + 131351084 131351124 41 TTAGCAACAAGTGGCCCCCACGGATGATGAGACTGGGAAGG TTAGCAACAAGTAGCCCCCACGGATGATGAGACTGGGAAGG < 41bp 1 0.149377868690945 1 0.731662273406982 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131351104 chr9:131351096 synonymous SNV . 0 13 hm5C_associated_SNPs_8312 2 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000392021.1
3875 chr9 131356538 131356538 1 + G A rs2227865 131356537 + 131356517 131356557 41 GTTTATGTTGTTCCGTGAAGCGAATGAACTACAGCAATGGA GTTTATGTTGTTCCGTGAAGCAAATGAACTACAGCAATGGA < 41bp 1 0.098875974835925 1 0.276121973991394 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131356537 chr9:131356538 synonymous SNV . 0 22 hm5C_associated_SNPs_8313 3 Benign not specified RCV000147623.2
3875 chr9 131356538 131356538 1 + G A rs2227865 131356537 + 131356517 131356557 41 GTTTATGTTGTTCCGTGAAGCGAATGAACTACAGCAATGGA GTTTATGTTGTTCCGTGAAGCAAATGAACTACAGCAATGGA < 41bp 1 0.098875974835925 1 0.276121973991394 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131356537 chr9:131356538 synonymous SNV . 0 22 hm5C_associated_SNPs_8313 3 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000367930.1
3875 chr9 131356538 131356538 1 + G A rs2227865 131356537 + 131356517 131356557 41 GTTTATGTTGTTCCGTGAAGCGAATGAACTACAGCAATGGA GTTTATGTTGTTCCGTGAAGCAAATGAACTACAGCAATGGA < 41bp 1 0.098875974835925 1 0.276121973991394 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131356537 chr9:131356538 synonymous SNV . 0 22 hm5C_associated_SNPs_8313 3 Benign Early infantile epileptic encephalopathy RCV000464944.1
3875 chr9 131710017 131710017 1 + G A rs113241875 131710016 + 131709996 131710036 41 AAGATGGCGGCGGCCGCCGGCGGGCCGTGTGTGAGGTGCGG AAGATGGCGGCGGCCGCCGGCAGGCCGTGTGTGAGGTGCGG < 41bp 1 0.458199978855955 1 0.831292331218719 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control NUP188 ENSG00000095319 CDS Human protein_coding chr9:131710016 chr9:131710017 nonsynonymous SNV 0.939 0 22 hm5C_associated_SNPs_8324 1 Likely benign Congenital disorder of glycosylation RCV000316700.1
3875 chr9 134398914 134398914 1 + G A rs10257 134398897 + 134398877 134398917 41 CCTCCTTCATGAACACCCAGCAACCTGAGCAAGTCCCGGCC CCTCCTTCATGAACACCCAGCAACCTGAGCAAGTCCCAGCC < 41bp 1 0.410817582542941 1 0.391762375831604 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control POMT1 ENSG00000130714 UTR3 Human protein_coding chr9:134398897 chr9:134398914 . . 0 38 hm5C_associated_SNPs_8360 1 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000319591.1
3875 chr9 135946599 135946599 1 + C T rs488087 135946619 + 135946599 135946639 41 CGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGC TGTGCCCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGC < 41bp 1 0.700091546330261 1 0.83484935760498 experiment 0.599816907339479 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135946619 chr9:135946599 synonymous SNV . 0 1 hm5C_associated_SNPs_8368 1 Likely benign not specified RCV000116657.2
3875 chr9 135947023 135947023 1 + G A rs75294797 135947003 + 135946983 135947023 41 CGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCG CGGGGCCCCCCCCGTGACCCCCACGGGTGACTCCGAGACCA < 41bp 1 0.573218285687955 1 0.25705498456955 experiment 0.853563428624089 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947003 chr9:135947023 nonsynonymous SNV 0.000 0 41 hm5C_associated_SNPs_8399 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947013 + 135946993 135947033 41 CCCGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCC CCCGTGACCCCCACGGGTGACTCCGAGACCACCCCCGTGCC < 41bp 1 0.687065564111531 1 0.238850265741348 experiment 0.625868871776938 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947013 chr9:135947023 nonsynonymous SNV 0.000 0 31 hm5C_associated_SNPs_8400 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947015 + 135946995 135947035 41 CGTGACCCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGC CGTGACCCCCACGGGTGACTCCGAGACCACCCCCGTGCCGC < 41bp 1 0.708538387483715 1 0.776618361473083 experiment 0.582923225032571 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947015 chr9:135947023 nonsynonymous SNV 0.000 0 29 hm5C_associated_SNPs_8401 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947021 + 135947001 135947041 41 CCCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGG CCCCACGGGTGACTCCGAGACCACCCCCGTGCCGCCCACGG < 41bp 1 0.213025024284479 1 0.159639596939087 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947021 chr9:135947023 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_8402 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947022 + 135947002 135947042 41 CCCACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGG CCCACGGGTGACTCCGAGACCACCCCCGTGCCGCCCACGGG < 41bp 1 0.492561815674835 1 0.109271466732025 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947022 chr9:135947023 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_8403 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947024 + 135947004 135947044 41 CACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTG CACGGGTGACTCCGAGACCACCCCCGTGCCGCCCACGGGTG < 41bp 1 0.342382088569538 1 0.130371540784836 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947024 chr9:135947023 nonsynonymous SNV 0.000 0 20 hm5C_associated_SNPs_8404 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947025 + 135947005 135947045 41 ACGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGA ACGGGTGACTCCGAGACCACCCCCGTGCCGCCCACGGGTGA < 41bp 1 0.574483643660563 1 0.267602235078812 experiment 0.851032712678874 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947025 chr9:135947023 nonsynonymous SNV 0.000 0 19 hm5C_associated_SNPs_8405 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947026 + 135947006 135947046 41 CGGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGAC CGGGTGACTCCGAGACCACCCCCGTGCCGCCCACGGGTGAC < 41bp 1 0.527634322388806 1 0.111023843288422 experiment 0.944731355222387 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947026 chr9:135947023 nonsynonymous SNV 0.000 0 18 hm5C_associated_SNPs_8406 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947027 + 135947007 135947047 41 GGGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACT GGGTGACTCCGAGACCACCCCCGTGCCGCCCACGGGTGACT < 41bp 1 0.268871836122029 1 0.187767773866653 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947027 chr9:135947023 nonsynonymous SNV 0.000 0 17 hm5C_associated_SNPs_8407 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947028 + 135947008 135947048 41 GGTGACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTC GGTGACTCCGAGACCACCCCCGTGCCGCCCACGGGTGACTC < 41bp 1 0.390256992472448 1 0.238293886184692 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947028 chr9:135947023 nonsynonymous SNV 0.000 0 16 hm5C_associated_SNPs_8408 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947032 + 135947012 135947052 41 ACTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGG ACTCCGAGACCACCCCCGTGCCGCCCACGGGTGACTCCGGG < 41bp 1 0.285714875664799 1 0.332650244235992 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947032 chr9:135947023 nonsynonymous SNV 0.000 0 12 hm5C_associated_SNPs_8409 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947033 + 135947013 135947053 41 CTCCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGG CTCCGAGACCACCCCCGTGCCGCCCACGGGTGACTCCGGGG < 41bp 1 0.483821924796795 1 0.306022644042969 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947033 chr9:135947023 nonsynonymous SNV 0.000 0 11 hm5C_associated_SNPs_8410 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947035 + 135947015 135947055 41 CCGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCC CCGAGACCACCCCCGTGCCGCCCACGGGTGACTCCGGGGCC < 41bp 1 0.215402611231462 1 0.115961879491806 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947035 chr9:135947023 nonsynonymous SNV 0.000 0 9 hm5C_associated_SNPs_8411 1 Benign not specified RCV000202709.1
3875 chr9 135947023 135947023 1 + G A rs75294797 135947036 + 135947016 135947056 41 CGAGACCGCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CGAGACCACCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC < 41bp 1 0.499673130974991 1 0.130323320627213 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135947036 chr9:135947023 nonsynonymous SNV 0.000 0 8 hm5C_associated_SNPs_8412 1 Benign not specified RCV000202709.1
3875 chr9 137593098 137593098 1 + C T rs116715381 137593086 + 137593066 137593106 41 CTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAG CTCGACTGTAAAAAGAAGACCACCAAATTCCTTGACCGCAG < 41bp 1 0.345742565300989 1 0.272157967090607 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137593086 chr9:137593098 synonymous SNV . 0 33 hm5C_associated_SNPs_8447 4 Benign not specified RCV000124478.5
3875 chr9 137593098 137593098 1 + C T rs116715381 137593086 + 137593066 137593106 41 CTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAG CTCGACTGTAAAAAGAAGACCACCAAATTCCTTGACCGCAG < 41bp 1 0.345742565300989 1 0.272157967090607 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137593086 chr9:137593098 synonymous SNV . 0 33 hm5C_associated_SNPs_8447 4 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000246811.1
3875 chr9 137593098 137593098 1 + C T rs116715381 137593086 + 137593066 137593106 41 CTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAG CTCGACTGTAAAAAGAAGACCACCAAATTCCTTGACCGCAG < 41bp 1 0.345742565300989 1 0.272157967090607 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137593086 chr9:137593098 synonymous SNV . 0 33 hm5C_associated_SNPs_8447 4 Likely benign Ehlers-Danlos syndrome, type 7A RCV000278708.1
3875 chr9 137593098 137593098 1 + C T rs116715381 137593086 + 137593066 137593106 41 CTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAG CTCGACTGTAAAAAGAAGACCACCAAATTCCTTGACCGCAG < 41bp 1 0.345742565300989 1 0.272157967090607 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137593086 chr9:137593098 synonymous SNV . 0 33 hm5C_associated_SNPs_8447 4 Benign Ehlers-Danlos syndrome, classic type RCV000463013.1
3875 chr9 137593099 137593099 1 + G A rs138579182 137593086 + 137593066 137593106 41 CTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAG CTCGACTGTAAAAAGAAGACCACCAAATTCCTCAACCGCAG < 41bp 1 0.303220987650922 1 0.17741185426712 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137593086 chr9:137593099 nonsynonymous SNV 0.112 0 34 hm5C_associated_SNPs_8448 3 Benign not specified RCV000124479.4
3875 chr9 137593099 137593099 1 + G A rs138579182 137593086 + 137593066 137593106 41 CTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAG CTCGACTGTAAAAAGAAGACCACCAAATTCCTCAACCGCAG < 41bp 1 0.303220987650922 1 0.17741185426712 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137593086 chr9:137593099 nonsynonymous SNV 0.112 0 34 hm5C_associated_SNPs_8448 3 Benign Ehlers-Danlos syndrome, classic type RCV000226247.2
3875 chr9 137593099 137593099 1 + G A rs138579182 137593086 + 137593066 137593106 41 CTCGACTGTAAAAAGAAGACCACCAAATTCCTCGACCGCAG CTCGACTGTAAAAAGAAGACCACCAAATTCCTCAACCGCAG < 41bp 1 0.303220987650922 1 0.17741185426712 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137593086 chr9:137593099 nonsynonymous SNV 0.112 0 34 hm5C_associated_SNPs_8448 3 Likely benign Ehlers-Danlos syndrome, type 7A RCV000319752.1
3875 chr9 137734416 137734416 1 + C T rs12722 137734435 + 137734415 137734455 41 ACGCGCCCCGGGAGCGGGGCCATGCCTCCAGCCCCCCAGCT ATGCGCCCCGGGAGCGGGGCCATGCCTCCAGCCCCCCAGCT < 41bp 1 0.190137020726785 1 0.594657838344574 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137734435 chr9:137734416 . . 0 2 hm5C_associated_SNPs_8449 1 Benign Ehlers-Danlos syndrome, type 7A RCV000292334.1
3875 chr9 137734432 137734432 1 + G A rs114171895 137734435 + 137734415 137734455 41 ACGCGCCCCGGGAGCGGGGCCATGCCTCCAGCCCCCCAGCT ACGCGCCCCGGGAGCGGAGCCATGCCTCCAGCCCCCCAGCT < 41bp 1 0.255326575858261 1 0.503295660018921 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137734435 chr9:137734432 . . 0 18 hm5C_associated_SNPs_8452 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000387894.1
3875 chr9 137734451 137734451 1 + C G rs376087882 137734435 + 137734415 137734455 41 ACGCGCCCCGGGAGCGGGGCCATGCCTCCAGCCCCCCAGCT ACGCGCCCCGGGAGCGGGGCCATGCCTCCAGCCCCCGAGCT < 41bp 1 0.192650217815917 1 0.538609147071838 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137734435 chr9:137734451 . . 0 37 hm5C_associated_SNPs_8453 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000295926.1
3875 chr9 137735592 137735592 1 + G A rs10895 137735590 + 137735570 137735610 41 ATTTCTGTGTTTGTTCCAAGCCGTTCAGTCATGCCATGCGC ATTTCTGTGTTTGTTCCAAGCCATTCAGTCATGCCATGCGC < 41bp 1 0.0388083582153156 1 0.0289848744869232 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137735590 chr9:137735592 . . 0 23 hm5C_associated_SNPs_8454 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000288611.1
3875 chr9 137735592 137735592 1 + G A rs10895 137735591 + 137735571 137735611 41 TTTCTGTGTTTGTTCCAAGCCGTTCAGTCATGCCATGCGCT TTTCTGTGTTTGTTCCAAGCCATTCAGTCATGCCATGCGCT < 41bp 1 0.0154791904982982 1 0.0161564648151398 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137735591 chr9:137735592 . . 0 22 hm5C_associated_SNPs_8455 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000288611.1
3875 chr9 140002989 140002989 1 + T C rs4880091 140002991 + 140002971 140003011 41 AAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAG AAACCTGCTCAGCCTGGACGCCTACGTGTTCAACACCGAAG < 41bp 1 0.0518480956025521 1 0.165575623512268 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002991 chr9:140002989 synonymous SNV . 0 19 hm5C_associated_SNPs_8506 2 Likely benign not specified RCV000117585.2
3875 chr9 140002989 140002989 1 + T C rs4880091 140002991 + 140002971 140003011 41 AAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAG AAACCTGCTCAGCCTGGACGCCTACGTGTTCAACACCGAAG < 41bp 1 0.0518480956025521 1 0.165575623512268 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002991 chr9:140002989 synonymous SNV . 0 19 hm5C_associated_SNPs_8506 2 Benign Intellectual Disability, Recessive RCV000318326.1
3875 chr9 140002989 140002989 1 + T C rs4880091 140002992 + 140002972 140003012 41 AACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGC AACCTGCTCAGCCTGGACGCCTACGTGTTCAACACCGAAGC < 41bp 1 0.416691878202031 1 0.113255232572556 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002992 chr9:140002989 synonymous SNV . 0 18 hm5C_associated_SNPs_8507 2 Likely benign not specified RCV000117585.2
3875 chr9 140002989 140002989 1 + T C rs4880091 140002992 + 140002972 140003012 41 AACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGC AACCTGCTCAGCCTGGACGCCTACGTGTTCAACACCGAAGC < 41bp 1 0.416691878202031 1 0.113255232572556 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002992 chr9:140002989 synonymous SNV . 0 18 hm5C_associated_SNPs_8507 2 Benign Intellectual Disability, Recessive RCV000318326.1
3875 chr9 140002995 140002995 1 + C T rs118117962 140002991 + 140002971 140003011 41 AAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAG AAACCTGCTCAGCCTGGATGCCTATGTGTTCAACACCGAAG < 41bp 1 0.0712661994419199 1 0.168125480413437 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002991 chr9:140002995 synonymous SNV . 0 25 hm5C_associated_SNPs_8508 2 Likely benign not specified RCV000117586.2
3875 chr9 140002995 140002995 1 + C T rs118117962 140002991 + 140002971 140003011 41 AAACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAG AAACCTGCTCAGCCTGGATGCCTATGTGTTCAACACCGAAG < 41bp 1 0.0712661994419199 1 0.168125480413437 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002991 chr9:140002995 synonymous SNV . 0 25 hm5C_associated_SNPs_8508 2 Likely benign Intellectual Disability, Recessive RCV000386793.1
3875 chr9 140002995 140002995 1 + C T rs118117962 140002992 + 140002972 140003012 41 AACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGC AACCTGCTCAGCCTGGATGCCTATGTGTTCAACACCGAAGC < 41bp 1 0.293097047430016 1 0.101776599884033 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002992 chr9:140002995 synonymous SNV . 0 24 hm5C_associated_SNPs_8509 2 Likely benign not specified RCV000117586.2
3875 chr9 140002995 140002995 1 + C T rs118117962 140002992 + 140002972 140003012 41 AACCTGCTCAGCCTGGATGCCTACGTGTTCAACACCGAAGC AACCTGCTCAGCCTGGATGCCTATGTGTTCAACACCGAAGC < 41bp 1 0.293097047430016 1 0.101776599884033 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002992 chr9:140002995 synonymous SNV . 0 24 hm5C_associated_SNPs_8509 2 Likely benign Intellectual Disability, Recessive RCV000386793.1
3875 chr10 27469913 27469913 1 + T C rs115175971 27469905 + 27469885 27469925 41 CTGCGGTAGACTGGTGGGCACTTGGAGTTTGCTTGTTTGAA CTGCGGTAGACTGGTGGGCACTTGGAGTCTGCTTGTTTGAA < 41bp 1 0.274662654352808 1 0.175934374332428 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MASTL ENSG00000120539 CDS Human protein_coding chr10:27469905 chr10:27469913 synonymous SNV . 0 29 hm5C_associated_SNPs_8579 1 Uncertain significance Thrombocytopenia RCV000357279.1
3875 chr10 73111532 73111532 1 + G A rs16928737 73111516 + 73111496 73111536 41 CGGCATGACCGGCTCCTTTCCTATGAGGAACTCCCAGGCAC CGGCATGACCGGCTCCTTTCCTATGAGGAACTCCCAAGCAC < 41bp 1 0.496058874160721 1 0.344882547855377 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control SLC29A3 ENSG00000198246 CDS Human protein_coding chr10:73111516 chr10:73111532 synonymous SNV . 0 37 hm5C_associated_SNPs_8643 2 Benign not specified RCV000118374.1
3875 chr10 73111532 73111532 1 + G A rs16928737 73111516 + 73111496 73111536 41 CGGCATGACCGGCTCCTTTCCTATGAGGAACTCCCAGGCAC CGGCATGACCGGCTCCTTTCCTATGAGGAACTCCCAAGCAC < 41bp 1 0.496058874160721 1 0.344882547855377 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control SLC29A3 ENSG00000198246 CDS Human protein_coding chr10:73111516 chr10:73111532 synonymous SNV . 0 37 hm5C_associated_SNPs_8643 2 Likely benign Histiocytosis-lymphadenopathy plus syndrome RCV000395768.1
3875 chr10 73566027 73566027 1 + G C rs142857685 73566026 + 73566006 73566046 41 GATGACAACGAACCCCTTTTCGTGAGGCCTCCAGTGAGCTT GATGACAACGAACCCCTTTTCCTGAGGCCTCCAGTGAGCTT < 41bp 1 0.336960620660594 1 0.142078280448914 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control CDH23 ENSG00000107736 CDS Human protein_coding chr10:73566026 chr10:73566027 nonsynonymous SNV 0.997 0 22 hm5C_associated_SNPs_8644 1 other not specified RCV000039281.4
3875 chr10 73724266 73724266 1 + C G rs4148907 73724251 + 73724231 73724271 41 TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCCGCAGC TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCGGCAGC < 41bp 1 0.222081588535861 1 0.783223628997803 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724251 chr10:73724266 . . 0 36 hm5C_associated_SNPs_8645 4 Benign Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000284764.1
3875 chr10 73724266 73724266 1 + C G rs4148907 73724251 + 73724231 73724271 41 TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCCGCAGC TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCGGCAGC < 41bp 1 0.222081588535861 1 0.783223628997803 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724251 chr10:73724266 . . 0 36 hm5C_associated_SNPs_8645 4 Benign Spondyloepiphyseal dysplasia RCV000307004.1
3875 chr10 73724266 73724266 1 + C G rs4148907 73724251 + 73724231 73724271 41 TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCCGCAGC TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCGGCAGC < 41bp 1 0.222081588535861 1 0.783223628997803 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724251 chr10:73724266 . . 0 36 hm5C_associated_SNPs_8645 4 Benign Larsen syndrome RCV000342077.1
3875 chr10 73724266 73724266 1 + C G rs4148907 73724251 + 73724231 73724271 41 TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCCGCAGC TGGCGCCGCTTCCCTTCCAGCGTGCCGACCGGCCCGGCAGC < 41bp 1 0.222081588535861 1 0.783223628997803 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724251 chr10:73724266 . . 0 36 hm5C_associated_SNPs_8645 4 Benign Skeletal dysplasia RCV000399138.1
3875 chr10 73767949 73767949 1 + G A rs145384892 73767938 + 73767918 73767958 41 GGGCCGCTGCAGAAGGCCCGCGAGATGTACCGCTTCGCCGG GGGCCGCTGCAGAAGGCCCGCGAGATGTACCACTTCGCCGG < 41bp 1 0.750582511436288 1 0.864838898181915 experiment 0.498834977127423 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767938 chr10:73767949 nonsynonymous SNV 0.977 1 32 hm5C_associated_SNPs_8647 1 Benign not specified RCV000296030.1
3875 chr10 73768236 73768236 1 + C T rs202242499 73768255 + 73768235 73768275 41 CCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG CTGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG < 41bp 1 0.0565055908616442 1 0.237052023410797 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768255 chr10:73768236 . . 0 2 hm5C_associated_SNPs_8648 5 Likely benign Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000278793.1
3875 chr10 73768236 73768236 1 + C T rs202242499 73768255 + 73768235 73768275 41 CCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG CTGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG < 41bp 1 0.0565055908616442 1 0.237052023410797 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768255 chr10:73768236 . . 0 2 hm5C_associated_SNPs_8648 5 Likely benign Skeletal dysplasia RCV000282169.1
3875 chr10 73768236 73768236 1 + C T rs202242499 73768255 + 73768235 73768275 41 CCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG CTGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG < 41bp 1 0.0565055908616442 1 0.237052023410797 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768255 chr10:73768236 . . 0 2 hm5C_associated_SNPs_8648 5 Likely benign Spondyloepiphyseal dysplasia RCV000337241.1
3875 chr10 73768236 73768236 1 + C T rs202242499 73768255 + 73768235 73768275 41 CCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG CTGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG < 41bp 1 0.0565055908616442 1 0.237052023410797 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768255 chr10:73768236 . . 0 2 hm5C_associated_SNPs_8648 5 Likely benign Larsen syndrome RCV000373254.1
3875 chr10 73768236 73768236 1 + C T rs202242499 73768255 + 73768235 73768275 41 CCGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG CTGGGGCCCCGTATGCCCCTCCTCGTGAAAGGCCTGCCCCG < 41bp 1 0.0565055908616442 1 0.237052023410797 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768255 chr10:73768236 . . 0 2 hm5C_associated_SNPs_8648 5 Benign not specified RCV000393419.1
3875 chr10 75867074 75867074 1 + G C rs150385900 75867081 + 75867061 75867101 41 ACCTCAGGAGCCTGACTTCCCGCCGCCTCCACCAGACCTTG ACCTCAGGAGCCTCACTTCCCGCCGCCTCCACCAGACCTTG < 41bp 1 0.641270551572695 1 0.145939588546753 experiment 0.717458896854611 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75867081 chr10:75867074 nonsynonymous SNV 1.000 2 14 hm5C_associated_SNPs_8676 5 Uncertain significance not provided RCV000172506.1
3875 chr10 75867074 75867074 1 + G C rs150385900 75867081 + 75867061 75867101 41 ACCTCAGGAGCCTGACTTCCCGCCGCCTCCACCAGACCTTG ACCTCAGGAGCCTCACTTCCCGCCGCCTCCACCAGACCTTG < 41bp 1 0.641270551572695 1 0.145939588546753 experiment 0.717458896854611 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75867081 chr10:75867074 nonsynonymous SNV 1.000 2 14 hm5C_associated_SNPs_8676 5 other not specified RCV000183982.3
3875 chr10 75867074 75867074 1 + G C rs150385900 75867081 + 75867061 75867101 41 ACCTCAGGAGCCTGACTTCCCGCCGCCTCCACCAGACCTTG ACCTCAGGAGCCTCACTTCCCGCCGCCTCCACCAGACCTTG < 41bp 1 0.641270551572695 1 0.145939588546753 experiment 0.717458896854611 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75867081 chr10:75867074 nonsynonymous SNV 1.000 2 14 hm5C_associated_SNPs_8676 5 Likely benign Cardiovascular phenotype RCV000244937.1
3875 chr10 75867074 75867074 1 + G C rs150385900 75867081 + 75867061 75867101 41 ACCTCAGGAGCCTGACTTCCCGCCGCCTCCACCAGACCTTG ACCTCAGGAGCCTCACTTCCCGCCGCCTCCACCAGACCTTG < 41bp 1 0.641270551572695 1 0.145939588546753 experiment 0.717458896854611 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75867081 chr10:75867074 nonsynonymous SNV 1.000 2 14 hm5C_associated_SNPs_8676 5 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000389914.1
3875 chr10 75867074 75867074 1 + G C rs150385900 75867081 + 75867061 75867101 41 ACCTCAGGAGCCTGACTTCCCGCCGCCTCCACCAGACCTTG ACCTCAGGAGCCTCACTTCCCGCCGCCTCCACCAGACCTTG < 41bp 1 0.641270551572695 1 0.145939588546753 experiment 0.717458896854611 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75867081 chr10:75867074 nonsynonymous SNV 1.000 2 14 hm5C_associated_SNPs_8676 5 Benign Dilated cardiomyopathy 1W RCV000463957.1
3875 chr10 75878075 75878075 1 + A G rs528724911 75878064 + 75878044 75878084 41 CATCAGAAAGGAATGGGGGCCTCTTCAAATTAGAAGACATT CATCAGAAAGGAATGGGGGCCTCTTCAAATTGGAAGACATT < 41bp 1 0.0414113826175798 1 0.128163188695908 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control VCL ENSG00000035403 UTR3 Human protein_coding chr10:75878064 chr10:75878075 . . 0 32 hm5C_associated_SNPs_8677 1 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000393788.1
3875 chr10 79797035 79797035 1 + A G rs139181869 79797031 + 79797011 79797051 41 AATGAAGAAAGTCAGGGGGACTGCAAAGGCCAATGTTGGTG AATGAAGAAAGTCAGGGGGACTGCGAAGGCCAATGTTGGTG < 41bp 1 0.533969310008342 1 0.228733658790588 experiment 0.932061379983316 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS24 ENSG00000138326 CDS Human protein_coding chr10:79797031 chr10:79797035 synonymous SNV . 0 25 hm5C_associated_SNPs_8678 1 Benign Diamond-Blackfan anemia RCV000458897.1
3875 chr10 79797035 79797035 1 + A G rs139181869 79797034 + 79797014 79797054 41 GAAGAAAGTCAGGGGGACTGCAAAGGCCAATGTTGGTGCTG GAAGAAAGTCAGGGGGACTGCGAAGGCCAATGTTGGTGCTG < 41bp 1 0.669273325843238 1 0.673746287822723 experiment 0.661453348313524 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout RPS24 ENSG00000138326 CDS Human protein_coding chr10:79797034 chr10:79797035 synonymous SNV . 0 22 hm5C_associated_SNPs_8679 1 Benign Diamond-Blackfan anemia RCV000458897.1
3875 chr10 79797035 79797035 1 + A G rs139181869 79797041 + 79797021 79797061 41 GTCAGGGGGACTGCAAAGGCCAATGTTGGTGCTGGCAAAAA GTCAGGGGGACTGCGAAGGCCAATGTTGGTGCTGGCAAAAA < 41bp 1 0.373315076857292 1 0.121356964111328 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control|30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout RPS24 ENSG00000138326 CDS Human protein_coding chr10:79797041 chr10:79797035 synonymous SNV . 0 15 hm5C_associated_SNPs_8680 1 Benign Diamond-Blackfan anemia RCV000458897.1
3875 chr10 79797035 79797035 1 + A G rs139181869 79797052 + 79797032 79797072 41 TGCAAAGGCCAATGTTGGTGCTGGCAAAAAGGTATAGTTCA TGCGAAGGCCAATGTTGGTGCTGGCAAAAAGGTATAGTTCA < 41bp 1 0.340091059874814 1 0.210737943649292 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control|30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout RPS24 ENSG00000138326 CDS Human protein_coding chr10:79797052 chr10:79797035 synonymous SNV . 0 4 hm5C_associated_SNPs_8681 1 Benign Diamond-Blackfan anemia RCV000458897.1
3875 chr10 79799975 79799975 1 + G A rs139289215 79799966 + 79799946 79799986 41 CCCGCCACTGATTCAGTGAGCTGGAGATTGGATCACAGGTA CCCGCCACTGATTCAGTGAGCTGGAGATTAGATCACAGGTA < 41bp 1 0.698286090241184 1 0.559856414794922 experiment 0.603427819517632 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control|30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout RPS24 ENSG00000138326 UTR3 Human protein_coding chr10:79799966 chr10:79799975 . . 0 30 hm5C_associated_SNPs_8687 1 Likely benign not specified RCV000500351.1
3875 chr10 79799975 79799975 1 + G A rs139289215 79799981 + 79799961 79800001 41 GTGAGCTGGAGATTGGATCACAGGTATAATTCAAGCTTTTC GTGAGCTGGAGATTAGATCACAGGTATAATTCAAGCTTTTC < 41bp 1 0.481979322913641 1 0.442115902900696 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS24 ENSG00000138326 UTR3 Human protein_coding chr10:79799981 chr10:79799975 . . 0 15 hm5C_associated_SNPs_8688 1 Likely benign not specified RCV000500351.1
3875 chr10 103825863 103825863 1 + G C rs200584437 103825852 + 103825832 103825872 41 TTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCA TTCCTGGTGCCCACTGCCACCACCTGGCCTGCCGTGGCCCA < 41bp 1 0.57766115528176 1 0.692704677581787 experiment 0.844677689436481 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control HPS6 ENSG00000166189 CDS Human protein_coding chr10:103825852 chr10:103825863 nonsynonymous SNV 0.705 1 32 hm5C_associated_SNPs_8758 2 Benign not specified RCV000250282.1
3875 chr10 103825863 103825863 1 + G C rs200584437 103825852 + 103825832 103825872 41 TTCCTGGTGCCCACTGCCACCACCTGGCCTGGCGTGGCCCA TTCCTGGTGCCCACTGCCACCACCTGGCCTGCCGTGGCCCA < 41bp 1 0.57766115528176 1 0.692704677581787 experiment 0.844677689436481 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control HPS6 ENSG00000166189 CDS Human protein_coding chr10:103825852 chr10:103825863 nonsynonymous SNV 0.705 1 32 hm5C_associated_SNPs_8758 2 Likely benign Hermansky-Pudlak syndrome RCV000368931.1
3875 chr10 104159196 104159196 1 + A G rs4919633 104159194 + 104159174 104159214 41 CCGGGGAGGAAGCCGCGGAGCCAAGCGCCCCCTCCAGGACC CCGGGGAGGAAGCCGCGGAGCCGAGCGCCCCCTCCAGGACC < 41bp 1 0.515970183626667 1 0.300097972154617 experiment 0.968059632746666 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control NFKB2 ENSG00000077150 CDS Human protein_coding chr10:104159194 chr10:104159196 synonymous SNV . 0 23 hm5C_associated_SNPs_8765 1 Benign not specified RCV000455642.1
3875 chr10 104159196 104159196 1 + A G rs4919633 104159195 + 104159175 104159215 41 CGGGGAGGAAGCCGCGGAGCCAAGCGCCCCCTCCAGGACCC CGGGGAGGAAGCCGCGGAGCCGAGCGCCCCCTCCAGGACCC < 41bp 1 0.736969575817467 1 0.633188009262085 experiment 0.526060848365066 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control NFKB2 ENSG00000077150 CDS Human protein_coding chr10:104159195 chr10:104159196 synonymous SNV . 0 22 hm5C_associated_SNPs_8766 1 Benign not specified RCV000455642.1
3875 chr10 104678350 104678350 1 + G A rs76057237 104678357 + 104678337 104678377 41 AGCGCTCGCGGCCGGGGGATCCTGCAGGCGGCTGCGGGGCG AGCGCTCGCGGCCAGGGGATCCTGCAGGCGGCTGCGGGGCG < 41bp 1 0.247640768804326 1 0.415396928787231 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CNNM2 ENSG00000148842 CDS Human protein_coding chr10:104678357 chr10:104678350 nonsynonymous SNV 1.000 0 14 hm5C_associated_SNPs_8786 1 Benign Renal Hypomagnesemia, Dominant RCV000329813.1
3875 chr10 112361870 112361870 1 + A G rs2419565 112361869 + 112361849 112361889 41 GTTAGATAGGGGTTACAAATCAATCATGGAACTGATGAATG GTTAGATAGGGGTTACAAATCGATCATGGAACTGATGAATG < 41bp 1 0.326963104589173 1 0.207907795906067 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SMC3 ENSG00000108055 CDS Human protein_coding chr10:112361869 chr10:112361870 synonymous SNV . 0 22 hm5C_associated_SNPs_8800 2 Benign not specified RCV000147595.2
3875 chr10 112361870 112361870 1 + A G rs2419565 112361869 + 112361849 112361889 41 GTTAGATAGGGGTTACAAATCAATCATGGAACTGATGAATG GTTAGATAGGGGTTACAAATCGATCATGGAACTGATGAATG < 41bp 1 0.326963104589173 1 0.207907795906067 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SMC3 ENSG00000108055 CDS Human protein_coding chr10:112361869 chr10:112361870 synonymous SNV . 0 22 hm5C_associated_SNPs_8800 2 Benign Cornelia de Lange Syndrome RCV000323853.1
3875 chr10 124221227 124221227 1 + C T rs369149111 124221221 + 124221201 124221241 41 GCTGCTGCTGCTGCTGGCGGCGCCCGCCTCGGCGCAGCTGT GCTGCTGCTGCTGCTGGCGGCGCCCGTCTCGGCGCAGCTGT < 41bp 1 0.5421304946063 1 0.712029993534088 experiment 0.915739010787401 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control HTRA1 ENSG00000166033 CDS Human protein_coding chr10:124221221 chr10:124221227 nonsynonymous SNV 0.013 0 27 hm5C_associated_SNPs_8822 1 Likely benign Macular degeneration RCV000259894.1
3875 chr11 2797237 2797237 1 + G A rs1057128 2797253 + 2797233 2797273 41 ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG ACTCACAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG < 41bp 1 0.483747084307007 1 0.389591157436371 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2797253 chr11:2797237 synonymous SNV . 0 5 hm5C_associated_SNPs_8918 7 Benign not specified RCV000035344.4
3875 chr11 2797237 2797237 1 + G A rs1057128 2797253 + 2797233 2797273 41 ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG ACTCACAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG < 41bp 1 0.483747084307007 1 0.389591157436371 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2797253 chr11:2797237 synonymous SNV . 0 5 hm5C_associated_SNPs_8918 7 Benign Cardiovascular phenotype RCV000253955.1
3875 chr11 2797237 2797237 1 + G A rs1057128 2797253 + 2797233 2797273 41 ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG ACTCACAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG < 41bp 1 0.483747084307007 1 0.389591157436371 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2797253 chr11:2797237 synonymous SNV . 0 5 hm5C_associated_SNPs_8918 7 Benign Familial atrial fibrillation RCV000300054.1
3875 chr11 2797237 2797237 1 + G A rs1057128 2797253 + 2797233 2797273 41 ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG ACTCACAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG < 41bp 1 0.483747084307007 1 0.389591157436371 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2797253 chr11:2797237 synonymous SNV . 0 5 hm5C_associated_SNPs_8918 7 Benign short QT syndrome RCV000315174.1
3875 chr11 2797237 2797237 1 + G A rs1057128 2797253 + 2797233 2797273 41 ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG ACTCACAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG < 41bp 1 0.483747084307007 1 0.389591157436371 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2797253 chr11:2797237 synonymous SNV . 0 5 hm5C_associated_SNPs_8918 7 Benign Long QT syndrome RCV000368527.1
3875 chr11 2797237 2797237 1 + G A rs1057128 2797253 + 2797233 2797273 41 ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG ACTCACAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG < 41bp 1 0.483747084307007 1 0.389591157436371 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2797253 chr11:2797237 synonymous SNV . 0 5 hm5C_associated_SNPs_8918 7 Benign Jervell and Lange-Nielsen syndrome RCV000397478.1
3875 chr11 2797237 2797237 1 + G A rs1057128 2797253 + 2797233 2797273 41 ACTCGCAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG ACTCACAGGGCCACCTCAACCTCATGGTGCGCATCAAGGAG < 41bp 1 0.483747084307007 1 0.389591157436371 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2797253 chr11:2797237 synonymous SNV . 0 5 hm5C_associated_SNPs_8918 7 Benign Romano-Ward syndrome RCV000397505.1
3875 chr11 2869452 2869452 1 + G A rs45477500 2869450 + 2869430 2869470 41 CCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCA CCGGTGTGGGGGCCCCGTCTCAAGTCTGAGTTGTTACCCCA < 41bp 1 0.535407161228916 1 0.908917307853699 experiment 0.929185677542168 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KCNQ1-AS1 ENSG00000229414 ncRNA_intronic Human antisense chr11:2869450 chr11:2869452 . . 0 23 hm5C_associated_SNPs_8919 5 Likely benign Long QT syndrome RCV000285965.1
3875 chr11 2869452 2869452 1 + G A rs45477500 2869450 + 2869430 2869470 41 CCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCA CCGGTGTGGGGGCCCCGTCTCAAGTCTGAGTTGTTACCCCA < 41bp 1 0.535407161228916 1 0.908917307853699 experiment 0.929185677542168 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KCNQ1-AS1 ENSG00000229414 ncRNA_intronic Human antisense chr11:2869450 chr11:2869452 . . 0 23 hm5C_associated_SNPs_8919 5 Likely benign Familial atrial fibrillation RCV000320850.1
3875 chr11 2869452 2869452 1 + G A rs45477500 2869450 + 2869430 2869470 41 CCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCA CCGGTGTGGGGGCCCCGTCTCAAGTCTGAGTTGTTACCCCA < 41bp 1 0.535407161228916 1 0.908917307853699 experiment 0.929185677542168 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KCNQ1-AS1 ENSG00000229414 ncRNA_intronic Human antisense chr11:2869450 chr11:2869452 . . 0 23 hm5C_associated_SNPs_8919 5 Likely benign short QT syndrome RCV000336175.1
3875 chr11 2869452 2869452 1 + G A rs45477500 2869450 + 2869430 2869470 41 CCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCA CCGGTGTGGGGGCCCCGTCTCAAGTCTGAGTTGTTACCCCA < 41bp 1 0.535407161228916 1 0.908917307853699 experiment 0.929185677542168 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KCNQ1-AS1 ENSG00000229414 ncRNA_intronic Human antisense chr11:2869450 chr11:2869452 . . 0 23 hm5C_associated_SNPs_8919 5 Likely benign Romano-Ward syndrome RCV000372179.1
3875 chr11 2869452 2869452 1 + G A rs45477500 2869450 + 2869430 2869470 41 CCGGTGTGGGGGCCCCGTCTCAGGTCTGAGTTGTTACCCCA CCGGTGTGGGGGCCCCGTCTCAAGTCTGAGTTGTTACCCCA < 41bp 1 0.535407161228916 1 0.908917307853699 experiment 0.929185677542168 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KCNQ1-AS1 ENSG00000229414 ncRNA_intronic Human antisense chr11:2869450 chr11:2869452 . . 0 23 hm5C_associated_SNPs_8919 5 Likely benign Jervell and Lange-Nielsen syndrome RCV000380329.1
3875 chr11 4112773 4112773 1 + C G rs61743670 4112784 + 4112764 4112804 41 GCTGAGCCCCTCAGCCCCACCTGGTGGCTCTCCACATTTGG GCTGAGCCCGTCAGCCCCACCTGGTGGCTCTCCACATTTGG < 41bp 1 0.62674944523269 1 0.544995546340942 experiment 0.74650110953462 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control STIM1 ENSG00000167323 CDS Human protein_coding chr11:4112784 chr11:4112773 synonymous SNV . 0 10 hm5C_associated_SNPs_8926 1 Benign not specified RCV000253572.1
3875 chr11 4112783 4112783 1 + C G rs139432975 4112784 + 4112764 4112804 41 GCTGAGCCCCTCAGCCCCACCTGGTGGCTCTCCACATTTGG GCTGAGCCCCTCAGCCCCAGCTGGTGGCTCTCCACATTTGG < 41bp 1 0.572356844510825 1 0.36118420958519 experiment 0.855286310978351 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control STIM1 ENSG00000167323 CDS Human protein_coding chr11:4112784 chr11:4112783 nonsynonymous SNV 0.999 0 20 hm5C_associated_SNPs_8927 1 Likely benign not specified RCV000243944.1
3875 chr11 9801451 9801451 1 + G A rs3829252 9801434 - 9801414 9801454 41 ATGCTTCCATGGTCCGTGCTCTGCCAGTGGGGTTCACAACA ATGTTTCCATGGTCCGTGCTCTGCCAGTGGGGTTCACAACA < 41bp 1 0.226801438150044 1 0.136349231004715 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control SBF2-AS1 ENSG00000246273 ncRNA_exonic Human antisense chr11:9801434 chr11:9801451 . . 0 4 hm5C_associated_SNPs_8989 1 Benign Charcot-Marie-Tooth, Type 4 RCV000345778.1
3875 chr11 34938180 34938180 1 + C A rs201033364 34938184 + 34938164 34938204 41 CAGGCTGTGCTGCGGGCAGCCAGTGAGAAGGCCGTCAAGAT CAGGCTGTGCTGCGGGAAGCCAGTGAGAAGGCCGTCAAGAT < 41bp 1 0.729288016453271 1 0.573561251163483 experiment 0.541423967093458 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control PDHX ENSG00000110435 UTR5 Human protein_coding chr11:34938184 chr11:34938180 . . 0 17 hm5C_associated_SNPs_9035 2 Benign not specified RCV000196329.1
3875 chr11 34938180 34938180 1 + C A rs201033364 34938184 + 34938164 34938204 41 CAGGCTGTGCTGCGGGCAGCCAGTGAGAAGGCCGTCAAGAT CAGGCTGTGCTGCGGGAAGCCAGTGAGAAGGCCGTCAAGAT < 41bp 1 0.729288016453271 1 0.573561251163483 experiment 0.541423967093458 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control PDHX ENSG00000110435 UTR5 Human protein_coding chr11:34938184 chr11:34938180 . . 0 17 hm5C_associated_SNPs_9035 2 Likely benign Pyruvate dehydrogenase complex deficiency RCV000293664.1
3875 chr11 34969150 34969150 1 + C T rs34582941 34969143 + 34969123 34969163 41 AAGTGATGATGGAATCTTGGCCAAAATCGTGGTAAGTTTTT AAGTGATGATGGAATCTTGGCCAAAATTGTGGTAAGTTTTT < 41bp 1 0.151676784901677 1 0.186306208372116 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PDHX ENSG00000110435 CDS Human protein_coding chr11:34969143 chr11:34969150 synonymous SNV . 0 28 hm5C_associated_SNPs_9037 2 Benign not specified RCV000127411.1
3875 chr11 34969150 34969150 1 + C T rs34582941 34969143 + 34969123 34969163 41 AAGTGATGATGGAATCTTGGCCAAAATCGTGGTAAGTTTTT AAGTGATGATGGAATCTTGGCCAAAATTGTGGTAAGTTTTT < 41bp 1 0.151676784901677 1 0.186306208372116 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PDHX ENSG00000110435 CDS Human protein_coding chr11:34969143 chr11:34969150 synonymous SNV . 0 28 hm5C_associated_SNPs_9037 2 Likely benign Pyruvate dehydrogenase complex deficiency RCV000307758.1
3875 chr11 44129386 44129386 1 + A G rs4755779 44129385 + 44129365 44129405 41 CTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCA CTGGGCCTCATTGCCACTGGCGTGTTTCAGTTTTGGCCCCA < 41bp 1 0.332979693093246 1 0.104183822870255 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129385 chr11:44129386 nonsynonymous SNV 0.999 0 22 hm5C_associated_SNPs_9051 2 Benign not specified RCV000120880.2
3875 chr11 44129386 44129386 1 + A G rs4755779 44129385 + 44129365 44129405 41 CTGGGCCTCATTGCCACTGGCATGTTTCAGTTTTGGCCCCA CTGGGCCTCATTGCCACTGGCGTGTTTCAGTTTTGGCCCCA < 41bp 1 0.332979693093246 1 0.104183822870255 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129385 chr11:44129386 nonsynonymous SNV 0.999 0 22 hm5C_associated_SNPs_9051 2 Likely benign Hereditary Multiple Osteochondromatosis RCV000363194.1
3875 chr11 44129386 44129386 1 + A G rs4755779 44129403 + 44129383 44129423 41 GGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAA GGCGTGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAA < 41bp 1 0.04162201199823 1 0.0186623334884644 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129403 chr11:44129386 nonsynonymous SNV 0.999 0 4 hm5C_associated_SNPs_9052 2 Benign not specified RCV000120880.2
3875 chr11 44129386 44129386 1 + A G rs4755779 44129403 + 44129383 44129423 41 GGCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAA GGCGTGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAA < 41bp 1 0.04162201199823 1 0.0186623334884644 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129403 chr11:44129386 nonsynonymous SNV 0.999 0 4 hm5C_associated_SNPs_9052 2 Likely benign Hereditary Multiple Osteochondromatosis RCV000363194.1
3875 chr11 44129386 44129386 1 + A G rs4755779 44129404 + 44129384 44129424 41 GCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAAT GCGTGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAAT < 41bp 1 0.0320676131461875 1 0.0537253022193909 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129404 chr11:44129386 nonsynonymous SNV 0.999 0 3 hm5C_associated_SNPs_9053 2 Benign not specified RCV000120880.2
3875 chr11 44129386 44129386 1 + A G rs4755779 44129404 + 44129384 44129424 41 GCATGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAAT GCGTGTTTCAGTTTTGGCCCCATTCTATCGAGTCCTCAAAT < 41bp 1 0.0320676131461875 1 0.0537253022193909 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129404 chr11:44129386 nonsynonymous SNV 0.999 0 3 hm5C_associated_SNPs_9053 2 Likely benign Hereditary Multiple Osteochondromatosis RCV000363194.1
3875 chr11 44129526 44129526 1 + C T rs35455466 44129509 + 44129489 44129529 41 CCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACG CCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCATACG < 41bp 1 0.660766781488291 1 0.513108372688293 experiment 0.678466437023418 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129509 chr11:44129526 synonymous SNV . 0 38 hm5C_associated_SNPs_9057 2 Likely benign Hereditary Multiple Osteochondromatosis RCV000283769.1
3875 chr11 44129526 44129526 1 + C T rs35455466 44129509 + 44129489 44129529 41 CCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCACACG CCATCCCAGAGCGGGGGGATCTCAGTTGCAGAATGCATACG < 41bp 1 0.660766781488291 1 0.513108372688293 experiment 0.678466437023418 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EXT2 ENSG00000151348 CDS Human protein_coding chr11:44129509 chr11:44129526 synonymous SNV . 0 38 hm5C_associated_SNPs_9057 2 Benign not specified RCV000418864.1
3875 chr11 45832935 45832935 1 + G A rs1139266 45832915 + 45832895 45832935 41 GGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCG GGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCA < 41bp 1 0.638672520418195 1 0.733876466751099 experiment 0.722654959163609 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC35C1 ENSG00000181830 UTR3 Human protein_coding chr11:45832915 chr11:45832935 . . 0 41 hm5C_associated_SNPs_9073 2 Benign not specified RCV000243982.1
3875 chr11 45832935 45832935 1 + G A rs1139266 45832915 + 45832895 45832935 41 GGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCG GGCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCA < 41bp 1 0.638672520418195 1 0.733876466751099 experiment 0.722654959163609 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC35C1 ENSG00000181830 UTR3 Human protein_coding chr11:45832915 chr11:45832935 . . 0 41 hm5C_associated_SNPs_9073 2 Benign Congenital disorder of glycosylation RCV000330911.1
3875 chr11 45832935 45832935 1 + G A rs1139266 45832916 + 45832896 45832936 41 GCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCGG GCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCAG < 41bp 1 0.741823043317392 1 0.727067947387695 experiment 0.516353913365216 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC35C1 ENSG00000181830 UTR3 Human protein_coding chr11:45832916 chr11:45832935 . . 0 40 hm5C_associated_SNPs_9074 2 Benign not specified RCV000243982.1
3875 chr11 45832935 45832935 1 + G A rs1139266 45832916 + 45832896 45832936 41 GCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCGG GCACCCTGGATGGCCCGGCCCCGGGGCCCGTACACAGGCAG < 41bp 1 0.741823043317392 1 0.727067947387695 experiment 0.516353913365216 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC35C1 ENSG00000181830 UTR3 Human protein_coding chr11:45832916 chr11:45832935 . . 0 40 hm5C_associated_SNPs_9074 2 Benign Congenital disorder of glycosylation RCV000330911.1
3875 chr11 61129724 61129724 1 + A G rs7120780 61129707 - 61129687 61129727 41 AGCTTTCGCTGTTCGGGGCCCGGCCTGCTCCGGGCCCTCCC AGCCTTCGCTGTTCGGGGCCCGGCCTGCTCCGGGCCCTCCC < 41bp 1 0.427988819790901 1 0.36023473739624 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control CYB561A3;TMEM138 ENSG00000149483;ENSG00000162144 UTR5 Human other chr11:61129707 chr11:61129724 . . 0 4 hm5C_associated_SNPs_9168 1 Likely benign Joubert syndrome RCV000298306.1
3875 chr11 61165769 61165769 1 + A G rs111371929 61165787 + 61165767 61165807 41 GCAGCCCATCAGGCTGACACCACACATATTGCTTCTGGTAC GCGGCCCATCAGGCTGACACCACACATATTGCTTCTGGTAC < 41bp 1 0.378507552810098 1 0.090362936258316 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM216 ENSG00000187049 UTR3 Human protein_coding chr11:61165787 chr11:61165769 . . 0 3 hm5C_associated_SNPs_9169 3 Likely benign not specified RCV000251656.1
3875 chr11 61165769 61165769 1 + A G rs111371929 61165787 + 61165767 61165807 41 GCAGCCCATCAGGCTGACACCACACATATTGCTTCTGGTAC GCGGCCCATCAGGCTGACACCACACATATTGCTTCTGGTAC < 41bp 1 0.378507552810098 1 0.090362936258316 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM216 ENSG00000187049 UTR3 Human protein_coding chr11:61165787 chr11:61165769 . . 0 3 hm5C_associated_SNPs_9169 3 Uncertain significance Joubert syndrome RCV000339313.1
3875 chr11 61165769 61165769 1 + A G rs111371929 61165787 + 61165767 61165807 41 GCAGCCCATCAGGCTGACACCACACATATTGCTTCTGGTAC GCGGCCCATCAGGCTGACACCACACATATTGCTTCTGGTAC < 41bp 1 0.378507552810098 1 0.090362936258316 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TMEM216 ENSG00000187049 UTR3 Human protein_coding chr11:61165787 chr11:61165769 . . 0 3 hm5C_associated_SNPs_9169 3 Uncertain significance Meckel-Gruber syndrome RCV000377550.1
3875 chr11 61722639 61722639 1 + C T rs57132800 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGTTACATCCAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.201626373027216 1 0.0799563527107239 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722639 synonymous SNV . 0 11 hm5C_associated_SNPs_9187 3 Likely benign Vitreoretinochoroidopathy RCV000272388.1
3875 chr11 61722639 61722639 1 + C T rs57132800 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGTTACATCCAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.201626373027216 1 0.0799563527107239 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722639 synonymous SNV . 0 11 hm5C_associated_SNPs_9187 3 Likely benign Vitelliform macular dystrophy type 2 RCV000307191.1
3875 chr11 61722639 61722639 1 + C T rs57132800 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGTTACATCCAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.201626373027216 1 0.0799563527107239 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722639 synonymous SNV . 0 11 hm5C_associated_SNPs_9187 3 Likely benign Retinitis Pigmentosa, Recessive RCV000364605.1
3875 chr11 61722645 61722645 1 + C A rs1109748 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGCTACATACAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.220192806595425 1 0.0716200470924377 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722645 synonymous SNV . 0 17 hm5C_associated_SNPs_9188 5 not provided not provided RCV000086102.1
3875 chr11 61722645 61722645 1 + C A rs1109748 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGCTACATACAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.220192806595425 1 0.0716200470924377 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722645 synonymous SNV . 0 17 hm5C_associated_SNPs_9188 5 Benign not specified RCV000152862.4
3875 chr11 61722645 61722645 1 + C A rs1109748 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGCTACATACAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.220192806595425 1 0.0716200470924377 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722645 synonymous SNV . 0 17 hm5C_associated_SNPs_9188 5 Benign Vitelliform macular dystrophy type 2 RCV000266568.1
3875 chr11 61722645 61722645 1 + C A rs1109748 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGCTACATACAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.220192806595425 1 0.0716200470924377 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722645 synonymous SNV . 0 17 hm5C_associated_SNPs_9188 5 Benign Retinitis Pigmentosa, Recessive RCV000320491.1
3875 chr11 61722645 61722645 1 + C A rs1109748 61722649 + 61722629 61722669 41 ATTGCGACAGCTACATCCAGCTCATCCCCATTTCCTTCGTG ATTGCGACAGCTACATACAGCTCATCCCCATTTCCTTCGTG < 41bp 1 0.220192806595425 1 0.0716200470924377 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61722649 chr11:61722645 synonymous SNV . 0 17 hm5C_associated_SNPs_9188 5 Benign Vitreoretinochoroidopathy RCV000377486.1
3875 chr11 65769593 65769593 1 + C T rs117774800 65769608 - 65769588 65769628 41 AGTACGGTTTTCGGAGGGATCAGACTCAGACTCACGTCGCA AGTACGGTTTTCGGAGGGATCAGACTCAGACTCACATCGCA < 41bp 1 0.552448306964422 1 0.813349962234497 experiment 0.895103386071156 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control BANF1;EIF1AD ENSG00000175334;ENSG00000175376 UTR5 Human other chr11:65769608 chr11:65769593 . . 0 36 hm5C_associated_SNPs_9395 1 Uncertain significance Nestor-Guillermo progeria syndrome RCV000357516.1
3875 chr11 66282095 66282095 1 + G A rs2298806 66282089 + 66282069 66282109 41 CTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCC CTCAGACCCTACTTCAAGTTCAGCCTACCCCAATTGCCTCC < 41bp 1 0.363286696133671 1 0.198149591684341 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control BBS1 ENSG00000174483;ENSG00000256349 CDS Human other chr11:66282089 chr11:66282095 nonsynonymous SNV . 0 27 hm5C_associated_SNPs_9405 2 Benign not specified RCV000247494.1
3875 chr11 66282095 66282095 1 + G A rs2298806 66282089 + 66282069 66282109 41 CTCAGACCCTACTTCAAGTTCAGCCTGCCCCAATTGCCTCC CTCAGACCCTACTTCAAGTTCAGCCTACCCCAATTGCCTCC < 41bp 1 0.363286696133671 1 0.198149591684341 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control BBS1 ENSG00000174483;ENSG00000256349 CDS Human other chr11:66282089 chr11:66282095 nonsynonymous SNV . 0 27 hm5C_associated_SNPs_9405 2 Benign Bardet-Biedl syndrome RCV000262515.1
3875 chr11 66294133 66294133 1 + C A rs200577824 66294153 + 66294133 66294173 41 CATCAAGATCCTGAAGCGTACAGCAGTGTTTGTAGAGGGAG AATCAAGATCCTGAAGCGTACAGCAGTGTTTGTAGAGGGAG < 41bp 1 0.749913655901958 1 0.157460719347 experiment 0.500172688196084 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control BBS1 ENSG00000174483;ENSG00000256349 CDS Human other chr11:66294153 chr11:66294133 synonymous SNV . 0 1 hm5C_associated_SNPs_9406 1 Uncertain significance Bardet-Biedl syndrome RCV000299774.1
3875 chr11 67374410 67374410 1 + G A rs73490568 67374409 + 67374389 67374429 41 GCGCCACCTAGCGTCTCTATCGCGCCAGTTCCTCAGCCTCA GCGCCACCTAGCGTCTCTATCACGCCAGTTCCTCAGCCTCA < 41bp 1 0.586967516319937 1 0.458870023488998 experiment 0.826064967360127 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control NDUFV1 ENSG00000167792 UTR5 Human protein_coding chr11:67374409 chr11:67374410 . . 0 22 hm5C_associated_SNPs_9427 2 Likely benign Leigh syndrome RCV000332823.1
3875 chr11 67374410 67374410 1 + G A rs73490568 67374409 + 67374389 67374429 41 GCGCCACCTAGCGTCTCTATCGCGCCAGTTCCTCAGCCTCA GCGCCACCTAGCGTCTCTATCACGCCAGTTCCTCAGCCTCA < 41bp 1 0.586967516319937 1 0.458870023488998 experiment 0.826064967360127 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control NDUFV1 ENSG00000167792 UTR5 Human protein_coding chr11:67374409 chr11:67374410 . . 0 22 hm5C_associated_SNPs_9427 2 Likely benign Mitochondrial complex I deficiency RCV000389913.1
3875 chr11 67374410 67374410 1 + G A rs73490568 67374422 + 67374402 67374442 41 TCTCTATCGCGCCAGTTCCTCAGCCTCAGTGCTATGAAGGT TCTCTATCACGCCAGTTCCTCAGCCTCAGTGCTATGAAGGT < 41bp 1 0.356134414169206 1 0.408865123987198 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control NDUFV1 ENSG00000167792 UTR5 Human protein_coding chr11:67374422 chr11:67374410 . . 0 9 hm5C_associated_SNPs_9428 2 Likely benign Leigh syndrome RCV000332823.1
3875 chr11 67374410 67374410 1 + G A rs73490568 67374422 + 67374402 67374442 41 TCTCTATCGCGCCAGTTCCTCAGCCTCAGTGCTATGAAGGT TCTCTATCACGCCAGTTCCTCAGCCTCAGTGCTATGAAGGT < 41bp 1 0.356134414169206 1 0.408865123987198 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control NDUFV1 ENSG00000167792 UTR5 Human protein_coding chr11:67374422 chr11:67374410 . . 0 9 hm5C_associated_SNPs_9428 2 Likely benign Mitochondrial complex I deficiency RCV000389913.1
3875 chr11 67376950 67376950 1 + C T rs199702939 67376960 + 67376940 67376980 41 TGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGG TGAACGCAGATGAGGGGGAGCCGGGCACCTGCAAGGACCGG < 41bp 1 0.479131435807125 1 0.704970061779022 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376960 chr11:67376950 synonymous SNV . 0 11 hm5C_associated_SNPs_9429 1 Likely benign not specified RCV000434275.1
3875 chr11 67376962 67376962 1 + G A rs140445386 67376960 + 67376940 67376980 41 TGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGG TGAACGCAGACGAGGGGGAGCCAGGCACCTGCAAGGACCGG < 41bp 1 0.330606336884819 1 0.551296830177307 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376960 chr11:67376962 synonymous SNV . 0 23 hm5C_associated_SNPs_9430 3 Uncertain significance Mitochondrial complex I deficiency RCV000275192.1
3875 chr11 67376962 67376962 1 + G A rs140445386 67376960 + 67376940 67376980 41 TGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGG TGAACGCAGACGAGGGGGAGCCAGGCACCTGCAAGGACCGG < 41bp 1 0.330606336884819 1 0.551296830177307 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376960 chr11:67376962 synonymous SNV . 0 23 hm5C_associated_SNPs_9430 3 Uncertain significance Leigh syndrome RCV000367341.1
3875 chr11 67376962 67376962 1 + G A rs140445386 67376960 + 67376940 67376980 41 TGAACGCAGACGAGGGGGAGCCGGGCACCTGCAAGGACCGG TGAACGCAGACGAGGGGGAGCCAGGCACCTGCAAGGACCGG < 41bp 1 0.330606336884819 1 0.551296830177307 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376960 chr11:67376962 synonymous SNV . 0 23 hm5C_associated_SNPs_9430 3 Benign not specified RCV000444047.1
3875 chr11 67798125 67798125 1 + C T rs544094420 67798110 + 67798090 67798130 41 CAATACAGAAAAGGGGGAACCCGCTGGCCCAATGGCAGCGT CAATACAGAAAAGGGGGAACCCGCTGGCCCAATGGTAGCGT < 41bp 1 0.324927352498353 1 0.573661804199219 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout NDUFS8 ENSG00000110717 UTR5 Human protein_coding chr11:67798110 chr11:67798125 . . 0 36 hm5C_associated_SNPs_9433 2 Uncertain significance Leigh syndrome RCV000275260.1
3875 chr11 67798125 67798125 1 + C T rs544094420 67798110 + 67798090 67798130 41 CAATACAGAAAAGGGGGAACCCGCTGGCCCAATGGCAGCGT CAATACAGAAAAGGGGGAACCCGCTGGCCCAATGGTAGCGT < 41bp 1 0.324927352498353 1 0.573661804199219 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout NDUFS8 ENSG00000110717 UTR5 Human protein_coding chr11:67798110 chr11:67798125 . . 0 36 hm5C_associated_SNPs_9433 2 Uncertain significance Mitochondrial complex I deficiency RCV000330456.1
3875 chr11 67815400 67815400 1 + C T rs34211419 67815417 + 67815397 67815437 41 CACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATC CACTGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATC < 41bp 1 0.00951800954762625 1 0.0506728291511536 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control TCIRG1 ENSG00000110719 CDS Human protein_coding chr11:67815417 chr11:67815400 synonymous SNV . 0 4 hm5C_associated_SNPs_9436 2 Uncertain significance not specified RCV000174560.1
3875 chr11 67815400 67815400 1 + C T rs34211419 67815417 + 67815397 67815437 41 CACCGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATC CACTGGTGTCTTCCTGGGACCCTACCCCTTTGGCATCGATC < 41bp 1 0.00951800954762625 1 0.0506728291511536 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control TCIRG1 ENSG00000110719 CDS Human protein_coding chr11:67815417 chr11:67815400 synonymous SNV . 0 4 hm5C_associated_SNPs_9436 2 Uncertain significance Osteopetrosis RCV000375300.1
3875 chr11 67818114 67818114 1 + C T rs141356870 67818104 + 67818084 67818124 41 GGTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGC GGTGATGGAGGGACTCTCAGCCTTCCTGCATGCCCTGCGGC < 41bp 1 0.0318991623165925 1 0.35627681016922 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TCIRG1 ENSG00000110719 CDS Human protein_coding chr11:67818104 chr11:67818114 synonymous SNV . 0 31 hm5C_associated_SNPs_9437 1 Uncertain significance not specified RCV000262140.1
3875 chr11 67818114 67818114 1 + C T rs141356870 67818105 + 67818085 67818125 41 GTGATGGAGGGACTCTCAGCCTTCCTGCACGCCCTGCGGCT GTGATGGAGGGACTCTCAGCCTTCCTGCATGCCCTGCGGCT < 41bp 1 0.124087311019479 1 0.452183187007904 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TCIRG1 ENSG00000110719 CDS Human protein_coding chr11:67818105 chr11:67818114 synonymous SNV . 0 30 hm5C_associated_SNPs_9438 1 Uncertain significance not specified RCV000262140.1
3875 chr11 68177414 68177414 1 + G A rs140977837 68177413 + 68177393 68177433 41 CGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGT CGCCTTCATGAACGGGAGCTCAGTGGAGCACGTGGTGGAGT < 41bp 1 0.409089661708737 1 0.374376326799393 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LRP5 ENSG00000162337 CDS Human protein_coding chr11:68177413 chr11:68177414 synonymous SNV . 0 22 hm5C_associated_SNPs_9439 1 Uncertain significance not specified RCV000263817.1
3875 chr11 68177429 68177429 1 + G A rs34369535 68177413 + 68177393 68177433 41 CGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTGGAGT CGCCTTCATGAACGGGAGCTCGGTGGAGCACGTGGTAGAGT < 41bp 1 0.421076590760062 1 0.531676650047302 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LRP5 ENSG00000162337 CDS Human protein_coding chr11:68177413 chr11:68177429 synonymous SNV . 0 37 hm5C_associated_SNPs_9441 1 Likely benign not specified RCV000438169.1
3875 chr11 68204445 68204445 1 + C T rs3736229 68204450 + 68204430 68204470 41 CCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTG CCCCGACTGTATCGATGGCTCCGACGAGCTCATGTGTGGTG < 41bp 1 0.151737237224567 1 0.105746060609818 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control LRP5 ENSG00000162337 CDS Human protein_coding chr11:68204450 chr11:68204445 synonymous SNV . 0 16 hm5C_associated_SNPs_9442 1 Likely benign not specified RCV000175428.1
3875 chr11 68204445 68204445 1 + C T rs3736229 68204451 + 68204431 68204471 41 CCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGA CCCGACTGTATCGATGGCTCCGACGAGCTCATGTGTGGTGA < 41bp 1 0.407743044767799 1 0.465917944908142 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control LRP5 ENSG00000162337 CDS Human protein_coding chr11:68204451 chr11:68204445 synonymous SNV . 0 15 hm5C_associated_SNPs_9443 1 Likely benign not specified RCV000175428.1
3875 chr11 68671419 68671419 1 + C T rs4930624 68671416 + 68671396 68671436 41 CTAGGGGCCCAGGCCGGCGGCGGCGATGGCCTCGGCAGCTG CTAGGGGCCCAGGCCGGCGGCGGTGATGGCCTCGGCAGCTG < 41bp 1 0.695264675274597 1 0.769588828086853 experiment 0.609470649450806 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control IGHMBP2 ENSG00000132740 UTR5 Human protein_coding chr11:68671416 chr11:68671419 . . 0 24 hm5C_associated_SNPs_9445 2 Benign not specified RCV000251714.3
3875 chr11 68671419 68671419 1 + C T rs4930624 68671416 + 68671396 68671436 41 CTAGGGGCCCAGGCCGGCGGCGGCGATGGCCTCGGCAGCTG CTAGGGGCCCAGGCCGGCGGCGGTGATGGCCTCGGCAGCTG < 41bp 1 0.695264675274597 1 0.769588828086853 experiment 0.609470649450806 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control IGHMBP2 ENSG00000132740 UTR5 Human protein_coding chr11:68671416 chr11:68671419 . . 0 24 hm5C_associated_SNPs_9445 2 Benign Spinal muscular atrophy RCV000349227.1
3875 chr11 68707454 68707454 1 + T C rs564244 68707463 + 68707443 68707483 41 TCCCTTCCCCTTACTCCCCGCCAAAACCCACATCCCAGCCT TCCCTTCCCCTCACTCCCCGCCAAAACCCACATCCCAGCCT < 41bp 1 0.17055982016506 1 0.189378708600998 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control IGHMBP2 ENSG00000132740 UTR3 Human protein_coding chr11:68707463 chr11:68707454 . . 0 12 hm5C_associated_SNPs_9446 1 Benign Spinal muscular atrophy RCV000303046.1
3875 chr11 71791491 71791491 1 + C A rs185830107 71791471 - 71791451 71791491 41 GGCCCGCGTTTGGCGTGCGGCCTGGGCACCCCTGCGGGTGC TGCCCGCGTTTGGCGTGCGGCCTGGGCACCCCTGCGGGTGC < 41bp 1 0.226533328695174 1 0.261387944221497 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control LRTOMT ENSG00000137497;ENSG00000184154 UTR5 Human other chr11:71791471 chr11:71791491 . . 0 1 hm5C_associated_SNPs_9462 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000401305.1
3875 chr11 75279846 75279846 1 + C T rs649257 75279855 + 75279835 75279875 41 CGGTCCTATACCGTGGGTGTCATGATGATGCACCGGACAGG CGGTCCTATACTGTGGGTGTCATGATGATGCACCGGACAGG < 41bp 1 0.528274833422174 1 0.152158051729202 experiment 0.943450333155652 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75279855 chr11:75279846 synonymous SNV . 0 12 hm5C_associated_SNPs_9528 1 Benign Osteogenesis Imperfecta, Recessive RCV000262588.1
3875 chr11 75280006 75280006 1 + C T rs61733248 75279988 + 75279968 75280008 41 TCCGCTCCTCTCCCAGGCCTCTACAACTACTACGACGACGA TCCGCTCCTCTCCCAGGCCTCTACAACTACTACGACGATGA < 41bp 1 0.513441168520637 1 0.768744230270386 experiment 0.973117662958725 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75279988 chr11:75280006 synonymous SNV . 0 39 hm5C_associated_SNPs_9529 2 Benign not specified RCV000178158.1
3875 chr11 75280006 75280006 1 + C T rs61733248 75279988 + 75279968 75280008 41 TCCGCTCCTCTCCCAGGCCTCTACAACTACTACGACGACGA TCCGCTCCTCTCCCAGGCCTCTACAACTACTACGACGATGA < 41bp 1 0.513441168520637 1 0.768744230270386 experiment 0.973117662958725 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75279988 chr11:75280006 synonymous SNV . 0 39 hm5C_associated_SNPs_9529 2 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000388996.1
3875 chr11 75283684 75283684 1 + G A rs180685772 75283698 + 75283678 75283718 41 TCTGGCGTTGTGGGGATGAACTTTTTGTTTTGTTTCTTCCT TCTGGCATTGTGGGGATGAACTTTTTGTTTTGTTTCTTCCT < 41bp 1 0.16366084347016 1 0.0617407560348511 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient SERPINH1 ENSG00000149257 UTR3 Human protein_coding chr11:75283698 chr11:75283684 . . 0 7 hm5C_associated_SNPs_9531 1 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000313815.1
3875 chr11 75283708 75283708 1 + T G rs145619367 75283698 + 75283678 75283718 41 TCTGGCGTTGTGGGGATGAACTTTTTGTTTTGTTTCTTCCT TCTGGCGTTGTGGGGATGAACTTTTTGTTTGGTTTCTTCCT < 41bp 1 0.170439155019704 1 0.0708599984645844 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient SERPINH1 ENSG00000149257 UTR3 Human protein_coding chr11:75283698 chr11:75283708 . . 0 31 hm5C_associated_SNPs_9532 1 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000370697.1
3875 chr11 86663296 86663296 1 + G A rs61735303 86663294 - 86663274 86663314 41 CCAGGTGATGAAGAGGTGCCCTTACCTCACAAAACCCCCAT CCAGGTGATGAAGAGGTGTCCTTACCTCACAAAACCCCCAT < 41bp 1 0.167942186188412 1 0.0463884174823761 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663294 chr11:86663296 nonsynonymous SNV 0.991 1 19 hm5C_associated_SNPs_9549 2 Likely benign Familial exudative vitreoretinopathy RCV000368489.1
3875 chr11 86663296 86663296 1 + G A rs61735303 86663294 - 86663274 86663314 41 CCAGGTGATGAAGAGGTGCCCTTACCTCACAAAACCCCCAT CCAGGTGATGAAGAGGTGTCCTTACCTCACAAAACCCCCAT < 41bp 1 0.167942186188412 1 0.0463884174823761 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663294 chr11:86663296 nonsynonymous SNV 0.991 1 19 hm5C_associated_SNPs_9549 2 Benign not specified RCV000455735.1
3875 chr11 86663296 86663296 1 + G A rs61735303 86663313 - 86663293 86663333 41 CCACATGTGCATGGAAGGGCCAGGTGATGAAGAGGTGCCCT CCACATGTGCATGGAAGGGCCAGGTGATGAAGAGGTGTCCT < 41bp 1 0.695523486652451 1 0.684495508670807 experiment 0.608953026695098 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663313 chr11:86663296 nonsynonymous SNV 0.991 1 38 hm5C_associated_SNPs_9550 2 Likely benign Familial exudative vitreoretinopathy RCV000368489.1
3875 chr11 86663296 86663296 1 + G A rs61735303 86663313 - 86663293 86663333 41 CCACATGTGCATGGAAGGGCCAGGTGATGAAGAGGTGCCCT CCACATGTGCATGGAAGGGCCAGGTGATGAAGAGGTGTCCT < 41bp 1 0.695523486652451 1 0.684495508670807 experiment 0.608953026695098 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663313 chr11:86663296 nonsynonymous SNV 0.991 1 38 hm5C_associated_SNPs_9550 2 Benign not specified RCV000455735.1
3875 chr11 108196134 108196134 1 + A G rs545873723 108196145 + 108196125 108196165 41 GAGCCTATCATGGCTCTACGCACAGTCATTTTGGAGATCCT GAGCCTATCGTGGCTCTACGCACAGTCATTTTGGAGATCCT < 41bp 1 0.326226320134275 1 0.121269881725311 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ATM ENSG00000149311 CDS Human protein_coding chr11:108196145 chr11:108196134 nonsynonymous SNV 0.999 2 10 hm5C_associated_SNPs_9567 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000214638.1
3875 chr11 108236471 108236471 1 + C T rs3092834 108236480 + 108236460 108236500 41 GCTGGGCGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGG GCTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGG < 41bp 1 0.227247070973986 1 0.0828303694725037 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108236480 chr11:108236471 . . 0 12 hm5C_associated_SNPs_9568 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000355715.1
3875 chr11 108236471 108236471 1 + C T rs3092834 108236481 + 108236461 108236501 41 CTGGGCGCAGCGGCTCACGCCTGTAATCCCAGCACTTTGGG CTGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGG < 41bp 1 0.41601536908867 1 0.273410260677338 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108236481 chr11:108236471 . . 0 11 hm5C_associated_SNPs_9569 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000355715.1
3875 chr11 108236471 108236471 1 + C T rs3092834 108236488 + 108236468 108236508 41 CAGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA CAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGA < 41bp 1 0.271895318595595 1 0.191685646772385 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108236488 chr11:108236471 . . 0 4 hm5C_associated_SNPs_9570 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000355715.1
3875 chr11 108236471 108236471 1 + C T rs3092834 108236489 + 108236469 108236509 41 AGCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG < 41bp 1 0.187675474467451 1 0.198829352855682 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108236489 chr11:108236471 . . 0 3 hm5C_associated_SNPs_9571 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000355715.1
3875 chr11 108236471 108236471 1 + C T rs3092834 108236490 + 108236470 108236510 41 GCGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG < 41bp 1 0.723853455835138 1 0.816624402999878 experiment 0.552293088329724 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108236490 chr11:108236471 . . 0 2 hm5C_associated_SNPs_9572 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000355715.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237825 + 108237805 108237845 41 CCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAG CCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAG < 41bp 1 0.437629648769449 1 0.115028411149979 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237825 chr11:108237839 . . 0 35 hm5C_associated_SNPs_9580 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237828 + 108237808 108237848 41 GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTG < 41bp 1 0.199137830371492 1 0.0494141280651093 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237828 chr11:108237839 . . 0 32 hm5C_associated_SNPs_9581 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237829 + 108237809 108237849 41 GGTTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGG < 41bp 1 0.405009962721248 1 0.177920490503311 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237829 chr11:108237839 . . 0 31 hm5C_associated_SNPs_9582 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237831 + 108237811 108237851 41 TTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA < 41bp 1 0.346662342536544 1 0.53820526599884 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237831 chr11:108237839 . . 0 29 hm5C_associated_SNPs_9583 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237834 + 108237814 108237854 41 AAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA AAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTA < 41bp 1 0.0759708416798558 1 0.224173694849014 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237834 chr11:108237839 . . 0 26 hm5C_associated_SNPs_9584 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237835 + 108237815 108237855 41 AGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC AGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTAC < 41bp 1 0.307372816184576 1 0.758445739746094 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237835 chr11:108237839 . . 0 25 hm5C_associated_SNPs_9585 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237837 + 108237817 108237857 41 CAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG CAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAG < 41bp 1 0.296255301372639 1 0.250545382499695 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237837 chr11:108237839 . . 0 23 hm5C_associated_SNPs_9586 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237838 + 108237818 108237858 41 AATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG AATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGG < 41bp 1 0.366146342101354 1 0.357229828834534 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237838 chr11:108237839 . . 0 22 hm5C_associated_SNPs_9587 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 108237839 108237839 1 + C T rs227091 108237846 + 108237826 108237866 41 TGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGTGTGCC TGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGTGTGCC < 41bp 1 0.752479132885105 1 0.675891518592834 experiment 0.495041734229789 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control ATM ENSG00000149311 UTR3 Human protein_coding chr11:108237846 chr11:108237839 . . 0 14 hm5C_associated_SNPs_9588 1 Benign Ataxia-telangiectasia syndrome RCV000338616.1
3875 chr11 118307316 118307316 1 + C G rs9332745 118307314 + 118307294 118307334 41 GGGCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCC GGGCGCCGGGGCCTAGGGGGCGGCCCGCGGCAACGCGTCCC < 41bp 1 0.688520080032701 1 0.732783198356628 experiment 0.622959839934599 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307314 chr11:118307316 nonsynonymous SNV 0.998 0 23 hm5C_associated_SNPs_9600 2 Benign not specified RCV000146147.1
3875 chr11 118307316 118307316 1 + C G rs9332745 118307314 + 118307294 118307334 41 GGGCGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCC GGGCGCCGGGGCCTAGGGGGCGGCCCGCGGCAACGCGTCCC < 41bp 1 0.688520080032701 1 0.732783198356628 experiment 0.622959839934599 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307314 chr11:118307316 nonsynonymous SNV 0.998 0 23 hm5C_associated_SNPs_9600 2 Likely benign not provided RCV000442939.1
3875 chr11 118307316 118307316 1 + C G rs9332745 118307317 + 118307297 118307337 41 CGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGGC CGCCGGGGCCTAGGGGGCGGCCCGCGGCAACGCGTCCCGGC < 41bp 1 0.413890131942082 1 0.51409900188446 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307317 chr11:118307316 nonsynonymous SNV 0.998 0 20 hm5C_associated_SNPs_9601 2 Benign not specified RCV000146147.1
3875 chr11 118307316 118307316 1 + C G rs9332745 118307317 + 118307297 118307337 41 CGCCGGGGCCTAGGGGGCGCCCCGCGGCAACGCGTCCCGGC CGCCGGGGCCTAGGGGGCGGCCCGCGGCAACGCGTCCCGGC < 41bp 1 0.413890131942082 1 0.51409900188446 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307317 chr11:118307316 nonsynonymous SNV 0.998 0 20 hm5C_associated_SNPs_9601 2 Likely benign not provided RCV000442939.1
3875 chr11 118307385 118307385 1 + C T rs9332747 118307387 + 118307367 118307407 41 GCGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTG GCGGTGGCGGCCCCGGGGTGCCCCCCTCCCCCCCGGCTGTG < 41bp 1 0.240183019994584 1 0.0824283361434937 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307387 chr11:118307385 nonsynonymous SNV 0.998 2 19 hm5C_associated_SNPs_9602 1 Benign not specified RCV000239337.1
3875 chr11 118307385 118307385 1 + C T rs9332747 118307388 + 118307368 118307408 41 CGGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTGG CGGTGGCGGCCCCGGGGTGCCCCCCTCCCCCCCGGCTGTGG < 41bp 1 0.289258141006999 1 0.34343022108078 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307388 chr11:118307385 nonsynonymous SNV 0.998 2 18 hm5C_associated_SNPs_9603 1 Benign not specified RCV000239337.1
3875 chr11 118307385 118307385 1 + C T rs9332747 118307389 + 118307369 118307409 41 GGTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTGGC GGTGGCGGCCCCGGGGTGCCCCCCTCCCCCCCGGCTGTGGC < 41bp 1 0.383325272392672 1 0.362301558256149 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307389 chr11:118307385 nonsynonymous SNV 0.998 2 17 hm5C_associated_SNPs_9604 1 Benign not specified RCV000239337.1
3875 chr11 118307385 118307385 1 + C T rs9332747 118307390 + 118307370 118307410 41 GTGGCGGCCCCGGGGCGCCCCCCTCCCCCCCGGCTGTGGCG GTGGCGGCCCCGGGGTGCCCCCCTCCCCCCCGGCTGTGGCG < 41bp 1 0.0996432890799631 1 0.803765296936035 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient KMT2A ENSG00000118058 CDS Human protein_coding chr11:118307390 chr11:118307385 nonsynonymous SNV 0.998 2 16 hm5C_associated_SNPs_9605 1 Benign not specified RCV000239337.1
3875 chr11 118355642 118355642 1 + A C rs9332801 118355660 + 118355640 118355680 41 ATAACACCCAGGGTGGTTTGCTTTCTCTGTGCCAGTAGTGG ATCACACCCAGGGTGGTTTGCTTTCTCTGTGCCAGTAGTGG < 41bp 1 0.015073362382366 1 0.0388703346252441 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KMT2A ENSG00000118058 CDS Human protein_coding chr11:118355660 chr11:118355642 synonymous SNV . 0 3 hm5C_associated_SNPs_9606 1 Benign not specified RCV000146138.2
3875 chr11 118955679 118955679 1 + C T rs589925 118955678 + 118955658 118955698 41 CGGTACTCGCCGGCCGGAGCCCCCGGCTTCCCGGGGCCGGG CGGTACTCGCCGGCCGGAGCCTCCGGCTTCCCGGGGCCGGG < 41bp 1 0.685972681193949 1 0.518853843212128 experiment 0.628054637612101 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control HMBS ENSG00000256269 UTR5 Human protein_coding chr11:118955678 chr11:118955679 . . 0 22 hm5C_associated_SNPs_9620 1 Benign Acute intermittent porphyria RCV000283859.1
3875 chr11 118955679 118955679 1 + C T rs589925 118955681 + 118955661 118955701 41 TACTCGCCGGCCGGAGCCCCCGGCTTCCCGGGGCCGGGGGA TACTCGCCGGCCGGAGCCTCCGGCTTCCCGGGGCCGGGGGA < 41bp 1 0.64530422467517 1 0.770762085914612 experiment 0.709391550649661 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control HMBS ENSG00000256269 UTR5 Human protein_coding chr11:118955681 chr11:118955679 . . 0 19 hm5C_associated_SNPs_9621 1 Benign Acute intermittent porphyria RCV000283859.1
3875 chr11 118955679 118955679 1 + C T rs589925 118955694 + 118955674 118955714 41 GAGCCCCCGGCTTCCCGGGGCCGGGGGACCTTAGCGGCACC GAGCCTCCGGCTTCCCGGGGCCGGGGGACCTTAGCGGCACC < 41bp 1 0.642054535364829 1 0.796288728713989 experiment 0.715890929270342 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control HMBS ENSG00000256269 UTR5 Human protein_coding chr11:118955694 chr11:118955679 . . 0 6 hm5C_associated_SNPs_9622 1 Benign Acute intermittent porphyria RCV000283859.1
3875 chr11 119077032 119077032 1 + G A rs548262208 119077043 + 119077023 119077063 41 GCGGCGGCGGCCGGGAGAGGCCCCTCCTTCACGCCCTGCTT GCGGCGGCGACCGGGAGAGGCCCCTCCTTCACGCCCTGCTT < 41bp 1 0.314194659959602 1 0.11103281378746 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control CBL ENSG00000110395 UTR5 Human protein_coding chr11:119077043 chr11:119077032 . . 0 10 hm5C_associated_SNPs_9629 1 Likely benign Noonan-Like Syndrome Disorder RCV000367719.1
3875 chr11 119170480 119170480 1 + G A rs17122769 119170488 + 119170468 119170508 41 TCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCT TCTCCTGCCCATATAGCTACCTAGCACACCATCTCCCTGCT < 41bp 1 0.225276825714389 1 0.051552414894104 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control CBL ENSG00000110395 CDS Human protein_coding chr11:119170488 chr11:119170480 nonsynonymous SNV 0.992 1 13 hm5C_associated_SNPs_9630 3 Benign not specified RCV000120465.4
3875 chr11 119170480 119170480 1 + G A rs17122769 119170488 + 119170468 119170508 41 TCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCT TCTCCTGCCCATATAGCTACCTAGCACACCATCTCCCTGCT < 41bp 1 0.225276825714389 1 0.051552414894104 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control CBL ENSG00000110395 CDS Human protein_coding chr11:119170488 chr11:119170480 nonsynonymous SNV 0.992 1 13 hm5C_associated_SNPs_9630 3 Likely benign Noonan-Like Syndrome Disorder RCV000298937.1
3875 chr11 119170480 119170480 1 + G A rs17122769 119170488 + 119170468 119170508 41 TCTCCTGCCCATGTAGCTACCTAGCACACCATCTCCCTGCT TCTCCTGCCCATATAGCTACCTAGCACACCATCTCCCTGCT < 41bp 1 0.225276825714389 1 0.051552414894104 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control CBL ENSG00000110395 CDS Human protein_coding chr11:119170488 chr11:119170480 nonsynonymous SNV 0.992 1 13 hm5C_associated_SNPs_9630 3 Benign Rasopathy RCV000467603.1
3875 chr11 125482982 125482982 1 + T C rs34079079 125482974 + 125482954 125482994 41 CCAGTGAGGCCTACTCTTCTCCGTCCATTGTACTATCTGCC CCAGTGAGGCCTACTCTTCTCCGTCCATCGTACTATCTGCC < 41bp 1 0.0933496287426817 1 0.243051528930664 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control STT3A ENSG00000134910 CDS Human protein_coding chr11:125482974 chr11:125482982 synonymous SNV . 0 29 hm5C_associated_SNPs_9654 1 Benign not specified RCV000436819.1
3875 chr11 126143246 126143246 1 + G A rs34542988 126143256 + 126143236 126143276 41 CCTGGCCGTAGTCGATGCTCCTCCCCTGGACCTCCGGTTCA CCTGGCCGTAATCGATGCTCCTCCCCTGGACCTCCGGTTCA < 41bp 1 0.491133041479878 1 0.115163952112198 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FOXRED1 ENSG00000110074 CDS Human protein_coding chr11:126143256 chr11:126143246 nonsynonymous SNV 0.001 1 11 hm5C_associated_SNPs_9656 2 Benign not specified RCV000125153.2
3875 chr11 126143246 126143246 1 + G A rs34542988 126143256 + 126143236 126143276 41 CCTGGCCGTAGTCGATGCTCCTCCCCTGGACCTCCGGTTCA CCTGGCCGTAATCGATGCTCCTCCCCTGGACCTCCGGTTCA < 41bp 1 0.491133041479878 1 0.115163952112198 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FOXRED1 ENSG00000110074 CDS Human protein_coding chr11:126143256 chr11:126143246 nonsynonymous SNV 0.001 1 11 hm5C_associated_SNPs_9656 2 Uncertain significance Mitochondrial complex I deficiency RCV000353768.1
3875 chr11 126213242 126213242 1 + G A rs35836343 126213246 + 126213226 126213266 41 ATCTGCCATCGCCGGGGCATCAGATCCCTACGCGACCTTAC ATCTGCCATCGCCGGGACATCAGATCCCTACGCGACCTTAC < 41bp 1 0.495544040984812 1 0.659728467464447 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control DCPS ENSG00000110063 CDS Human protein_coding chr11:126213246 chr11:126213242 nonsynonymous SNV 0.956 1 17 hm5C_associated_SNPs_9657 1 Likely benign not provided RCV000423311.1
3875 chr12 987482 987482 1 + G A rs1012729 987472 + 987452 987492 41 TGAGGCCACTACTGCACAGCCAGTGAGTCAGCCTCAAGCTC TGAGGCCACTACTGCACAGCCAGTGAGTCAACCTCAAGCTC < 41bp 1 0.317875309723207 1 0.0552375316619873 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:987472 chr12:987482 synonymous SNV . 0 31 hm5C_associated_SNPs_9668 3 Benign not specified RCV000249177.1
3875 chr12 987482 987482 1 + G A rs1012729 987472 + 987452 987492 41 TGAGGCCACTACTGCACAGCCAGTGAGTCAGCCTCAAGCTC TGAGGCCACTACTGCACAGCCAGTGAGTCAACCTCAAGCTC < 41bp 1 0.317875309723207 1 0.0552375316619873 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:987472 chr12:987482 synonymous SNV . 0 31 hm5C_associated_SNPs_9668 3 Benign Hereditary sensory and autonomic neuropathy type II RCV000265691.1
3875 chr12 987482 987482 1 + G A rs1012729 987472 + 987452 987492 41 TGAGGCCACTACTGCACAGCCAGTGAGTCAGCCTCAAGCTC TGAGGCCACTACTGCACAGCCAGTGAGTCAACCTCAAGCTC < 41bp 1 0.317875309723207 1 0.0552375316619873 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:987472 chr12:987482 synonymous SNV . 0 31 hm5C_associated_SNPs_9668 3 Benign Pseudohypoaldosteronism, type 2 RCV000358053.1
3875 chr12 987482 987482 1 + G A rs1012729 987483 + 987463 987503 41 CTGCACAGCCAGTGAGTCAGCCTCAAGCTCCACAAGTCTTG CTGCACAGCCAGTGAGTCAACCTCAAGCTCCACAAGTCTTG < 41bp 1 0.176001497777923 1 0.0226494967937469 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:987483 chr12:987482 synonymous SNV . 0 20 hm5C_associated_SNPs_9669 3 Benign not specified RCV000249177.1
3875 chr12 987482 987482 1 + G A rs1012729 987483 + 987463 987503 41 CTGCACAGCCAGTGAGTCAGCCTCAAGCTCCACAAGTCTTG CTGCACAGCCAGTGAGTCAACCTCAAGCTCCACAAGTCTTG < 41bp 1 0.176001497777923 1 0.0226494967937469 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:987483 chr12:987482 synonymous SNV . 0 20 hm5C_associated_SNPs_9669 3 Benign Hereditary sensory and autonomic neuropathy type II RCV000265691.1
3875 chr12 987482 987482 1 + G A rs1012729 987483 + 987463 987503 41 CTGCACAGCCAGTGAGTCAGCCTCAAGCTCCACAAGTCTTG CTGCACAGCCAGTGAGTCAACCTCAAGCTCCACAAGTCTTG < 41bp 1 0.176001497777923 1 0.0226494967937469 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:987483 chr12:987482 synonymous SNV . 0 20 hm5C_associated_SNPs_9669 3 Benign Pseudohypoaldosteronism, type 2 RCV000358053.1
3875 chr12 1005644 1005644 1 + G A rs61736907 1005625 + 1005605 1005645 41 GGAACAAGCTGTTCTTCCTGCTGTGATACCAAAGAAAGAGA GGAACAAGCTGTTCTTCCTGCTGTGATACCAAAGAAAGAAA < 41bp 1 0.131991588587489 1 0.458604723215103 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005625 chr12:1005644 synonymous SNV . 0 40 hm5C_associated_SNPs_9670 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000263989.1
3875 chr12 1005644 1005644 1 + G A rs61736907 1005625 + 1005605 1005645 41 GGAACAAGCTGTTCTTCCTGCTGTGATACCAAAGAAAGAGA GGAACAAGCTGTTCTTCCTGCTGTGATACCAAAGAAAGAAA < 41bp 1 0.131991588587489 1 0.458604723215103 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005625 chr12:1005644 synonymous SNV . 0 40 hm5C_associated_SNPs_9670 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000361402.1
3875 chr12 6976688 6976688 1 + A G rs1800200 6976702 + 6976682 6976722 41 GCCGCGACTGCGCGCAGACACTGACCTTCAGCGCCTCGGCT GCCGCGGCTGCGCGCAGACACTGACCTTCAGCGCCTCGGCT < 41bp 1 0.482070242448973 1 0.0379800796508789 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control TPI1 ENSG00000111669 CDS Human protein_coding chr12:6976702 chr12:6976688 synonymous SNV . 0 7 hm5C_associated_SNPs_9740 1 Benign Triosephosphate isomerase deficiency RCV000327732.1
3875 chr12 6978344 6978344 1 + T C rs141972556 6978340 + 6978320 6978360 41 AAGGCATGTCTTTGGGGAGTCAGATGAGGTTAGTAGCCAAG AAGGCATGTCTTTGGGGAGTCAGACGAGGTTAGTAGCCAAG < 41bp 1 0.332205598667371 1 0.538480579853058 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient TPI1 ENSG00000111669 CDS Human protein_coding chr12:6978340 chr12:6978344 synonymous SNV . 0 25 hm5C_associated_SNPs_9742 1 Likely benign Triosephosphate isomerase deficiency RCV000294146.1
3875 chr12 7080187 7080187 1 + C G rs11064480 7080174 + 7080154 7080194 41 ATGCTCTGCCACCCAAGCGGCCCCGACTAGGGGCAGGAAAC ATGCTCTGCCACCCAAGCGGCCCCGACTAGGGGGAGGAAAC < 41bp 1 0.1830487406523 1 0.0509169101715088 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control EMG1 ENSG00000126749 CDS Human protein_coding chr12:7080174 chr12:7080187 nonsynonymous SNV 0.934 0 34 hm5C_associated_SNPs_9755 1 Benign not specified RCV000202817.1
3875 chr12 7080187 7080187 1 + C G rs11064480 7080176 + 7080156 7080196 41 GCTCTGCCACCCAAGCGGCCCCGACTAGGGGCAGGAAACAA GCTCTGCCACCCAAGCGGCCCCGACTAGGGGGAGGAAACAA < 41bp 1 0.189456459967908 1 0.0607316792011261 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control EMG1 ENSG00000126749 CDS Human protein_coding chr12:7080176 chr12:7080187 nonsynonymous SNV 0.934 0 32 hm5C_associated_SNPs_9756 1 Benign not specified RCV000202817.1
3875 chr12 7080187 7080187 1 + C G rs11064480 7080177 + 7080157 7080197 41 CTCTGCCACCCAAGCGGCCCCGACTAGGGGCAGGAAACAAG CTCTGCCACCCAAGCGGCCCCGACTAGGGGGAGGAAACAAG < 41bp 1 0.357877273587568 1 0.114770323038101 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control EMG1 ENSG00000126749 CDS Human protein_coding chr12:7080177 chr12:7080187 nonsynonymous SNV 0.934 0 31 hm5C_associated_SNPs_9757 1 Benign not specified RCV000202817.1
3875 chr12 7342619 7342619 1 + G T rs117442311 7342623 + 7342603 7342643 41 CCCTTCTTCGGGCAGTGTCGCCGTCCAGCCTGGTTGTTGAA CCCTTCTTCGGGCAGTTTCGCCGTCCAGCCTGGTTGTTGAA < 41bp 1 0.0866713113051408 1 0.42214697599411 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control PEX5 ENSG00000139197 UTR5 Human protein_coding chr12:7342623 chr12:7342619 . . 0 17 hm5C_associated_SNPs_9759 1 Uncertain significance Zellweger syndrome RCV000262474.1
3875 chr12 7342619 7342619 1 + G T rs117442311 7342624 + 7342604 7342644 41 CCTTCTTCGGGCAGTGTCGCCGTCCAGCCTGGTTGTTGAAG CCTTCTTCGGGCAGTTTCGCCGTCCAGCCTGGTTGTTGAAG < 41bp 1 0.114130354326919 1 0.167798787355423 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PEX5 ENSG00000139197 UTR5 Human protein_coding chr12:7342624 chr12:7342619 . . 0 16 hm5C_associated_SNPs_9760 1 Uncertain significance Zellweger syndrome RCV000262474.1
3875 chr12 7342636 7342636 1 + T A rs113752912 7342623 + 7342603 7342643 41 CCCTTCTTCGGGCAGTGTCGCCGTCCAGCCTGGTTGTTGAA CCCTTCTTCGGGCAGTGTCGCCGTCCAGCCTGGATGTTGAA < 41bp 1 0.0686280957484024 1 0.293141782283783 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control PEX5 ENSG00000139197 UTR5 Human protein_coding chr12:7342623 chr12:7342636 . . 0 34 hm5C_associated_SNPs_9761 1 Likely benign Zellweger syndrome RCV000322404.1
3875 chr12 7342636 7342636 1 + T A rs113752912 7342624 + 7342604 7342644 41 CCTTCTTCGGGCAGTGTCGCCGTCCAGCCTGGTTGTTGAAG CCTTCTTCGGGCAGTGTCGCCGTCCAGCCTGGATGTTGAAG < 41bp 1 0.120639191774718 1 0.119431734085083 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PEX5 ENSG00000139197 UTR5 Human protein_coding chr12:7342624 chr12:7342636 . . 0 33 hm5C_associated_SNPs_9762 1 Likely benign Zellweger syndrome RCV000322404.1
3875 chr12 58190184 58190184 1 + C A rs62000432 58190183 + 58190163 58190203 41 CATGTGGTGGGCATGGCCCCCCTCTCTGTTGGCTCCCTGGA CATGTGGTGGGCATGGCCCCCATCTCTGTTGGCTCCCTGGA < 41bp 1 0.476634957056393 1 0.340185761451721 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control TSFM ENSG00000123297 CDS Human protein_coding chr12:58190183 chr12:58190184 nonsynonymous SNV 0.981 0 22 hm5C_associated_SNPs_9911 2 Likely benign not provided RCV000224319.1
3875 chr12 58190184 58190184 1 + C A rs62000432 58190183 + 58190163 58190203 41 CATGTGGTGGGCATGGCCCCCCTCTCTGTTGGCTCCCTGGA CATGTGGTGGGCATGGCCCCCATCTCTGTTGGCTCCCTGGA < 41bp 1 0.476634957056393 1 0.340185761451721 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control TSFM ENSG00000123297 CDS Human protein_coding chr12:58190183 chr12:58190184 nonsynonymous SNV 0.981 0 22 hm5C_associated_SNPs_9911 2 Uncertain significance Combined oxidative phosphorylation deficiency RCV000289720.1
3875 chr12 98941390 98941390 1 + G A rs144913822 98941402 + 98941382 98941422 41 GCAGGCCGGCCATTAGAACTCAGTGATTTCAGGATGGAGGA GCAGGCCGACCATTAGAACTCAGTGATTTCAGGATGGAGGA < 41bp 1 0.658522337902689 1 0.412046551704407 experiment 0.682955324194621 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TMPO ENSG00000120802 CDS Human protein_coding chr12:98941402 chr12:98941390 synonymous SNV . 0 9 hm5C_associated_SNPs_9963 1 Likely benign not specified RCV000152058.1
3875 chr12 105519861 105519861 1 + C T rs200763691 105519876 + 105519856 105519896 41 ATTTGCACATAGTATTCGGTCAATTTTTGCAAATGTAGAAG ATTTGTACATAGTATTCGGTCAATTTTTGCAAATGTAGAAG < 41bp 1 0.169987134787714 1 0.118732005357742 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control WASHC4 ENSG00000136051 CDS Human protein_coding chr12:105519876 chr12:105519861 nonsynonymous SNV 1.000 1 6 hm5C_associated_SNPs_9994 1 Likely benign not specified RCV000500498.1
3875 chr12 105519873 105519873 1 + G A rs35267264 105519876 + 105519856 105519896 41 ATTTGCACATAGTATTCGGTCAATTTTTGCAAATGTAGAAG ATTTGCACATAGTATTCAGTCAATTTTTGCAAATGTAGAAG < 41bp 1 0.234329230900091 1 0.162818759679794 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control WASHC4 ENSG00000136051 CDS Human protein_coding chr12:105519876 chr12:105519873 nonsynonymous SNV 1.000 2 18 hm5C_associated_SNPs_9995 2 Uncertain significance Inborn genetic diseases RCV000210608.1
3875 chr12 105519873 105519873 1 + G A rs35267264 105519876 + 105519856 105519896 41 ATTTGCACATAGTATTCGGTCAATTTTTGCAAATGTAGAAG ATTTGCACATAGTATTCAGTCAATTTTTGCAAATGTAGAAG < 41bp 1 0.234329230900091 1 0.162818759679794 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control WASHC4 ENSG00000136051 CDS Human protein_coding chr12:105519876 chr12:105519873 nonsynonymous SNV 1.000 2 18 hm5C_associated_SNPs_9995 2 Uncertain significance not provided RCV000224419.1
3875 chr12 105519873 105519873 1 + G A rs35267264 105519885 + 105519865 105519905 41 TAGTATTCGGTCAATTTTTGCAAATGTAGAAGCCAAACTTG TAGTATTCAGTCAATTTTTGCAAATGTAGAAGCCAAACTTG < 41bp 1 0.274004295337448 1 0.282398879528046 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control WASHC4 ENSG00000136051 CDS Human protein_coding chr12:105519885 chr12:105519873 nonsynonymous SNV 1.000 2 9 hm5C_associated_SNPs_9996 2 Uncertain significance Inborn genetic diseases RCV000210608.1
3875 chr12 105519873 105519873 1 + G A rs35267264 105519885 + 105519865 105519905 41 TAGTATTCGGTCAATTTTTGCAAATGTAGAAGCCAAACTTG TAGTATTCAGTCAATTTTTGCAAATGTAGAAGCCAAACTTG < 41bp 1 0.274004295337448 1 0.282398879528046 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control WASHC4 ENSG00000136051 CDS Human protein_coding chr12:105519885 chr12:105519873 nonsynonymous SNV 1.000 2 9 hm5C_associated_SNPs_9996 2 Uncertain significance not provided RCV000224419.1
3875 chr12 112915755 112915755 1 + G A rs535800148 112915765 + 112915745 112915785 41 GACTTTTGGCGGATGGTGTTCCAAGAAAACTCCCGAGTGAT GACTTTTGGCAGATGGTGTTCCAAGAAAACTCCCGAGTGAT < 41bp 1 0.251271901122231 1 0.241689234972 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915765 chr12:112915755 nonsynonymous SNV 1.000 2 11 hm5C_associated_SNPs_10050 1 Uncertain significance not specified RCV000159507.1
3875 chr12 112915755 112915755 1 + G A rs535800148 112915766 + 112915746 112915786 41 ACTTTTGGCGGATGGTGTTCCAAGAAAACTCCCGAGTGATT ACTTTTGGCAGATGGTGTTCCAAGAAAACTCCCGAGTGATT < 41bp 1 0.753075212518123 1 0.306508600711823 experiment 0.493849574963755 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915766 chr12:112915755 nonsynonymous SNV 1.000 2 10 hm5C_associated_SNPs_10051 1 Uncertain significance not specified RCV000159507.1
3875 chr12 124243364 124243364 1 + T C rs146660715 124243354 + 124243334 124243374 41 GCTGGGATTACAGGCGTGAGCCACCATGCCTGGCCAAAATA GCTGGGATTACAGGCGTGAGCCACCATGCCCGGCCAAAATA < 41bp 1 0.307310964933588 1 0.176341652870178 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control ATP6V0A2 ENSG00000185344 UTR3 Human protein_coding chr12:124243354 chr12:124243364 . . 0 31 hm5C_associated_SNPs_10134 1 Uncertain significance Cutis laxa, recessive RCV000395960.1
3875 chr12 124243364 124243364 1 + T C rs146660715 124243358 + 124243338 124243378 41 GGATTACAGGCGTGAGCCACCATGCCTGGCCAAAATATGCA GGATTACAGGCGTGAGCCACCATGCCCGGCCAAAATATGCA < 41bp 1 0.189874300579575 1 0.411545813083649 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control ATP6V0A2 ENSG00000185344 UTR3 Human protein_coding chr12:124243358 chr12:124243364 . . 0 27 hm5C_associated_SNPs_10135 1 Uncertain significance Cutis laxa, recessive RCV000395960.1
3875 chr13 28494258 28494258 1 + C T rs193922351 28494257 + 28494237 28494277 41 CGGCTCCCGGCTCCCGGTGCCCAATCCCGGGCCGCAGCCAT CGGCTCCCGGCTCCCGGTGCCTAATCCCGGGCCGCAGCCAT < 41bp 1 0.519437454845193 1 0.0388334691524506 experiment 0.961125090309615 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PDX1 ENSG00000247381 ncRNA_intronic Human antisense chr13:28494257 chr13:28494258 . . 0 22 hm5C_associated_SNPs_10254 2 Uncertain significance Maturity-onset diabetes of the young, type 4 RCV000030073.1
3875 chr13 28494258 28494258 1 + C T rs193922351 28494257 + 28494237 28494277 41 CGGCTCCCGGCTCCCGGTGCCCAATCCCGGGCCGCAGCCAT CGGCTCCCGGCTCCCGGTGCCTAATCCCGGGCCGCAGCCAT < 41bp 1 0.519437454845193 1 0.0388334691524506 experiment 0.961125090309615 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PDX1 ENSG00000247381 ncRNA_intronic Human antisense chr13:28494257 chr13:28494258 . . 0 22 hm5C_associated_SNPs_10254 2 Likely benign not specified RCV000425057.1
3875 chr13 77570078 77570078 1 + T G rs34481987 77570092 + 77570072 77570112 41 ATTAACTGGCAAGAACTACACAATGGAATGGTATGAACTTT ATTAACGGGCAAGAACTACACAATGGAATGGTATGAACTTT < 41bp 1 0.555996047298502 1 0.283549875020981 experiment 0.888007905402995 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570092 chr13:77570078 synonymous SNV . 0 7 hm5C_associated_SNPs_10269 3 other not specified RCV000116756.4
3875 chr13 77570078 77570078 1 + T G rs34481987 77570092 + 77570072 77570112 41 ATTAACTGGCAAGAACTACACAATGGAATGGTATGAACTTT ATTAACGGGCAAGAACTACACAATGGAATGGTATGAACTTT < 41bp 1 0.555996047298502 1 0.283549875020981 experiment 0.888007905402995 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570092 chr13:77570078 synonymous SNV . 0 7 hm5C_associated_SNPs_10269 3 Likely benign Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive RCV000312256.1
3875 chr13 77570078 77570078 1 + T G rs34481987 77570092 + 77570072 77570112 41 ATTAACTGGCAAGAACTACACAATGGAATGGTATGAACTTT ATTAACGGGCAAGAACTACACAATGGAATGGTATGAACTTT < 41bp 1 0.555996047298502 1 0.283549875020981 experiment 0.888007905402995 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570092 chr13:77570078 synonymous SNV . 0 7 hm5C_associated_SNPs_10269 3 Benign Neuronal ceroid lipofuscinosis RCV000476942.1
3875 chr13 100920951 100920951 1 + T C rs143838146 100920958 + 100920938 100920978 41 TTCAGGTTCTAGGTGATAAACATGGGAATGCTTTATGGCTT TTCAGGTTCTAGGCGATAAACATGGGAATGCTTTATGGCTT < 41bp 1 0.500076257460304 1 0.340781539678574 experiment 0.999847485079391 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCCA ENSG00000175198 CDS Human protein_coding chr13:100920958 chr13:100920951 synonymous SNV . 0 14 hm5C_associated_SNPs_10343 1 Likely benign not specified RCV000431431.1
3875 chr13 110959787 110959787 1 + A G rs35466678 110959786 + 110959766 110959806 41 CCGGCGCCCAGAGAGCCCAGCAAGGCCGGCCGCCCTGCCGG CCGGCGCCCAGAGAGCCCAGCGAGGCCGGCCGCCCTGCCGG < 41bp 1 0.691836090111128 1 0.877061486244202 experiment 0.616327819777744 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL4A2 ENSG00000134871 UTR5 Human protein_coding chr13:110959786 chr13:110959787 . . 0 22 hm5C_associated_SNPs_10347 3 Benign Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps RCV000285021.1
3875 chr13 110959787 110959787 1 + A G rs35466678 110959786 + 110959766 110959806 41 CCGGCGCCCAGAGAGCCCAGCAAGGCCGGCCGCCCTGCCGG CCGGCGCCCAGAGAGCCCAGCGAGGCCGGCCGCCCTGCCGG < 41bp 1 0.691836090111128 1 0.877061486244202 experiment 0.616327819777744 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL4A2 ENSG00000134871 UTR5 Human protein_coding chr13:110959786 chr13:110959787 . . 0 22 hm5C_associated_SNPs_10347 3 Benign Porencephaly RCV000303409.1
3875 chr13 110959787 110959787 1 + A G rs35466678 110959786 + 110959766 110959806 41 CCGGCGCCCAGAGAGCCCAGCAAGGCCGGCCGCCCTGCCGG CCGGCGCCCAGAGAGCCCAGCGAGGCCGGCCGCCCTGCCGG < 41bp 1 0.691836090111128 1 0.877061486244202 experiment 0.616327819777744 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL4A2 ENSG00000134871 UTR5 Human protein_coding chr13:110959786 chr13:110959787 . . 0 22 hm5C_associated_SNPs_10347 3 Benign Brain small vessel disease with hemorrhage RCV000339993.1
3875 chr13 111111173 111111173 1 + G A rs7990214 111111171 + 111111151 111111191 41 ACGAAGCTATCAAAGGTCTTCCGGGACTGCCAGGACCCAAG ACGAAGCTATCAAAGGTCTTCCAGGACTGCCAGGACCCAAG < 41bp 1 0.185326704785609 1 0.571271419525146 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111111171 chr13:111111173 synonymous SNV . 0 23 hm5C_associated_SNPs_10348 1 Benign Porencephaly RCV000341336.1
3875 chr13 111111173 111111173 1 + G A rs7990214 111111172 + 111111152 111111192 41 CGAAGCTATCAAAGGTCTTCCGGGACTGCCAGGACCCAAGG CGAAGCTATCAAAGGTCTTCCAGGACTGCCAGGACCCAAGG < 41bp 1 0.666985546879392 1 0.862051606178284 experiment 0.666028906241216 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111111172 chr13:111111173 synonymous SNV . 0 22 hm5C_associated_SNPs_10349 1 Benign Porencephaly RCV000341336.1
3875 chr13 111111235 111111235 1 + G A rs7990383 111111217 + 111111197 111111237 41 CGCAGGCATCAACGGGGAGCCGGGGAGGAAAGGGGACAGAG CGCAGGCATCAACGGGGAGCCGGGGAGGAAAGGGGACAAAG < 41bp 1 0.687860955080532 1 0.813098073005676 experiment 0.624278089838936 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111111217 chr13:111111235 nonsynonymous SNV 0.126 1 39 hm5C_associated_SNPs_10352 1 Benign Porencephaly RCV000394894.1
3875 chr13 111155779 111155779 1 + G A rs4773199 111155778 + 111155758 111155798 41 GAACACTGGACCCACTGGGGCGGTGGGCGACAGAGGCCCCA GAACACTGGACCCACTGGGGCAGTGGGCGACAGAGGCCCCA < 41bp 1 0.201387599348047 1 0.462307304143906 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111155778 chr13:111155779 synonymous SNV . 0 22 hm5C_associated_SNPs_10358 1 Benign Porencephaly RCV000359805.1
3875 chr13 111155786 111155786 1 + G A rs558814304 111155778 + 111155758 111155798 41 GAACACTGGACCCACTGGGGCGGTGGGCGACAGAGGCCCCA GAACACTGGACCCACTGGGGCGGTGGGCAACAGAGGCCCCA < 41bp 1 0.221226503469022 1 0.719749271869659 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111155778 chr13:111155786 nonsynonymous SNV 0.956 5 29 hm5C_associated_SNPs_10359 1 Likely benign Porencephaly RCV000400289.1
3875 chr14 20937588 20937588 1 + G A rs17881206 20937582 + 20937562 20937602 41 GCCAACTGTGCGAACCAGACCCGGCAGCCTTGCTCAGTTCA GCCAACTGTGCGAACCAGACCCGGCAACCTTGCTCAGTTCA < 41bp 1 0.273742835884364 1 0.397435486316681 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control PNP ENSG00000198805 UTR5 Human protein_coding chr14:20937582 chr14:20937588 . . 0 27 hm5C_associated_SNPs_10383 1 Uncertain significance Purine-nucleoside phosphorylase deficiency RCV000291266.1
3875 chr14 20937601 20937601 1 + C G rs113248050 20937582 + 20937562 20937602 41 GCCAACTGTGCGAACCAGACCCGGCAGCCTTGCTCAGTTCA GCCAACTGTGCGAACCAGACCCGGCAGCCTTGCTCAGTTGA < 41bp 1 0.273384197998195 1 0.408387005329132 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control PNP ENSG00000198805 UTR5 Human protein_coding chr14:20937582 chr14:20937601 . . 0 40 hm5C_associated_SNPs_10385 1 Likely benign Purine-nucleoside phosphorylase deficiency RCV000399994.1
3875 chr14 20945014 20945014 1 + C T rs7785 20945033 + 20945013 20945053 41 TCTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTG TTTTACACAAGAGCTGGAGCCCGTGCCCTACCACACATCTG < 41bp 1 0.348552092194092 1 0.60763818025589 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PNP ENSG00000258908 ncRNA_intronic Human lincRNA chr14:20945033 chr14:20945014 . . 0 2 hm5C_associated_SNPs_10386 1 Likely benign Purine-nucleoside phosphorylase deficiency RCV000288868.1
3875 chr14 31494988 31494988 1 + G A rs78648016 31494972 + 31494952 31494992 41 GGAAAAGCCGTTGAGAGGACCATCACAACCTGAGCAGCACA GGAAAAGCCGTTGAGAGGACCATCACAACCTGAGCAACACA < 41bp 1 0.317287475281829 1 0.293773949146271 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control AP4S1 ENSG00000100478 UTR5 Human protein_coding chr14:31494972 chr14:31494988 . . 0 37 hm5C_associated_SNPs_10512 1 Benign not specified RCV000443961.1
3875 chr14 51057727 51057727 1 + G A rs1060197 51057723 + 51057703 51057743 41 TTTTTCATGGAGAGGTGGATCTGAGCGAGAGACCACAGGAA TTTTTCATGGAGAGGTGGATCTGAACGAGAGACCACAGGAA < 41bp 1 0.778030460996668 1 0.265607088804245 experiment 0.443939078006664 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ATL1 ENSG00000198513 CDS Human protein_coding chr14:51057723 chr14:51057727 synonymous SNV . 0 25 hm5C_associated_SNPs_10536 3 Benign Spastic paraplegia 3 RCV000020720.1
3875 chr14 51057727 51057727 1 + G A rs1060197 51057723 + 51057703 51057743 41 TTTTTCATGGAGAGGTGGATCTGAGCGAGAGACCACAGGAA TTTTTCATGGAGAGGTGGATCTGAACGAGAGACCACAGGAA < 41bp 1 0.778030460996668 1 0.265607088804245 experiment 0.443939078006664 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ATL1 ENSG00000198513 CDS Human protein_coding chr14:51057723 chr14:51057727 synonymous SNV . 0 25 hm5C_associated_SNPs_10536 3 Likely benign not specified RCV000116420.2
3875 chr14 51057727 51057727 1 + G A rs1060197 51057723 + 51057703 51057743 41 TTTTTCATGGAGAGGTGGATCTGAGCGAGAGACCACAGGAA TTTTTCATGGAGAGGTGGATCTGAACGAGAGACCACAGGAA < 41bp 1 0.778030460996668 1 0.265607088804245 experiment 0.443939078006664 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ATL1 ENSG00000198513 CDS Human protein_coding chr14:51057723 chr14:51057727 synonymous SNV . 0 25 hm5C_associated_SNPs_10536 3 Benign Spastic Paraplegia, Dominant RCV000392328.1
3875 chr14 64687305 64687305 1 + G A rs34820571 64687313 + 64687293 64687333 41 GCAGCACAGGGCGCAGTGGACAGCTGGAGAGGGGGCTTACG GCAGCACAGGGCACAGTGGACAGCTGGAGAGGGGGCTTACG < 41bp 1 0.299587016301069 1 0.511377155780792 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64687313 chr14:64687305 nonsynonymous SNV 0.001 0 13 hm5C_associated_SNPs_10567 2 Likely benign not specified RCV000174194.2
3875 chr14 64687305 64687305 1 + G A rs34820571 64687313 + 64687293 64687333 41 GCAGCACAGGGCGCAGTGGACAGCTGGAGAGGGGGCTTACG GCAGCACAGGGCACAGTGGACAGCTGGAGAGGGGGCTTACG < 41bp 1 0.299587016301069 1 0.511377155780792 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64687313 chr14:64687305 nonsynonymous SNV 0.001 0 13 hm5C_associated_SNPs_10567 2 Likely benign Emery-Dreifuss muscular dystrophy RCV000350552.1
3875 chr14 64690002 64690002 1 + T C rs77065534 64690010 + 64689990 64690030 41 TGGAGAAGACTGTATTGAAGCTGAAGAAAAGGTGCATGTTA TGGAGAAGACTGCATTGAAGCTGAAGAAAAGGTGCATGTTA < 41bp 1 0.29169210973563 1 0.429901331663132 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64690010 chr14:64690002 synonymous SNV . 0 13 hm5C_associated_SNPs_10569 1 Likely benign Emery-Dreifuss muscular dystrophy RCV000356498.1
3875 chr14 74424938 74424938 1 + T C rs3180946 74424923 + 74424903 74424943 41 CCATTTCCTATGGCCGACTCCAGCCCTTGGGTTCATATTAC CCATTTCCTATGGCCGACTCCAGCCCTTGGGTTCACATTAC < 41bp 1 0.460404331719515 1 0.155064880847931 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COQ6 ENSG00000119723 CDS Human protein_coding chr14:74424923 chr14:74424938 synonymous SNV . 0 36 hm5C_associated_SNPs_10599 1 other not specified RCV000116813.3
3875 chr14 89291027 89291027 1 + G A rs7145692 89291047 + 89291027 89291067 41 GCCTTCGCTGGCCGCACCGGCAGCCATGAGCTCGGAGATGG ACCTTCGCTGGCCGCACCGGCAGCCATGAGCTCGGAGATGG < 41bp 1 0.577361516283031 1 0.104230642318726 experiment 0.845276967433938 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control TTC8 ENSG00000165533 UTR5 Human protein_coding chr14:89291047 chr14:89291027 . . 0 1 hm5C_associated_SNPs_10624 3 Likely benign not specified RCV000244627.1
3875 chr14 89291027 89291027 1 + G A rs7145692 89291047 + 89291027 89291067 41 GCCTTCGCTGGCCGCACCGGCAGCCATGAGCTCGGAGATGG ACCTTCGCTGGCCGCACCGGCAGCCATGAGCTCGGAGATGG < 41bp 1 0.577361516283031 1 0.104230642318726 experiment 0.845276967433938 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control TTC8 ENSG00000165533 UTR5 Human protein_coding chr14:89291047 chr14:89291027 . . 0 1 hm5C_associated_SNPs_10624 3 Uncertain significance Bardet-Biedl syndrome RCV000270079.1
3875 chr14 89291027 89291027 1 + G A rs7145692 89291047 + 89291027 89291067 41 GCCTTCGCTGGCCGCACCGGCAGCCATGAGCTCGGAGATGG ACCTTCGCTGGCCGCACCGGCAGCCATGAGCTCGGAGATGG < 41bp 1 0.577361516283031 1 0.104230642318726 experiment 0.845276967433938 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control TTC8 ENSG00000165533 UTR5 Human protein_coding chr14:89291047 chr14:89291027 . . 0 1 hm5C_associated_SNPs_10624 3 Uncertain significance Retinitis Pigmentosa, Recessive RCV000362261.1
3875 chr14 90429749 90429749 1 + A G rs3825663 90429750 + 90429730 90429770 41 GCAGTGATGATGAGCTGCAACCAGAAATGCCGCAGAAGCAG GCAGTGATGATGAGCTGCAGCCAGAAATGCCGCAGAAGCAG < 41bp 1 0.686901189586981 1 0.433761835098267 experiment 0.626197620826037 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TDP1 ENSG00000042088 CDS Human protein_coding chr14:90429750 chr14:90429749 synonymous SNV . 0 20 hm5C_associated_SNPs_10627 1 Benign Spinocerebellar Ataxia, Recessive RCV000322773.1
3875 chr14 90429749 90429749 1 + A G rs3825663 90429751 + 90429731 90429771 41 CAGTGATGATGAGCTGCAACCAGAAATGCCGCAGAAGCAGG CAGTGATGATGAGCTGCAGCCAGAAATGCCGCAGAAGCAGG < 41bp 1 0.702079521942366 1 0.886929035186768 experiment 0.595840956115267 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TDP1 ENSG00000042088 CDS Human protein_coding chr14:90429751 chr14:90429749 synonymous SNV . 0 19 hm5C_associated_SNPs_10628 1 Benign Spinocerebellar Ataxia, Recessive RCV000322773.1
3875 chr14 102466430 102466430 1 + G A rs34690489 102466414 + 102466394 102466434 41 GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCGCTGG GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCACTGG < 41bp 1 0.194248407748293 1 0.67035299539566 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102466414 chr14:102466430 synonymous SNV . 0 37 hm5C_associated_SNPs_10662 5 Benign not specified RCV000116916.2
3875 chr14 102466430 102466430 1 + G A rs34690489 102466414 + 102466394 102466434 41 GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCGCTGG GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCACTGG < 41bp 1 0.194248407748293 1 0.67035299539566 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102466414 chr14:102466430 synonymous SNV . 0 37 hm5C_associated_SNPs_10662 5 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000232049.2
3875 chr14 102466430 102466430 1 + G A rs34690489 102466414 + 102466394 102466434 41 GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCGCTGG GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCACTGG < 41bp 1 0.194248407748293 1 0.67035299539566 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102466414 chr14:102466430 synonymous SNV . 0 37 hm5C_associated_SNPs_10662 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000309091.1
3875 chr14 102466430 102466430 1 + G A rs34690489 102466414 + 102466394 102466434 41 GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCGCTGG GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCACTGG < 41bp 1 0.194248407748293 1 0.67035299539566 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102466414 chr14:102466430 synonymous SNV . 0 37 hm5C_associated_SNPs_10662 5 Likely benign Intellectual Disability, Dominant RCV000340547.1
3875 chr14 102466430 102466430 1 + G A rs34690489 102466414 + 102466394 102466434 41 GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCGCTGG GGACGACAGAGAGAAGTGTGCAAAGGCCAAGGAGGCACTGG < 41bp 1 0.194248407748293 1 0.67035299539566 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102466414 chr14:102466430 synonymous SNV . 0 37 hm5C_associated_SNPs_10662 5 Likely benign Spinocerebellar Ataxia, Dominant RCV000404178.1
3875 chr14 102499701 102499701 1 + C T rs75075497 102499719 + 102499699 102499739 41 AACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCAT AATGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCAT < 41bp 1 0.202471719137145 1 0.811618089675903 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102499719 chr14:102499701 synonymous SNV . 0 3 hm5C_associated_SNPs_10663 2 Benign not specified RCV000433680.1
3875 chr14 102499701 102499701 1 + C T rs75075497 102499719 + 102499699 102499739 41 AACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCAT AATGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCAT < 41bp 1 0.202471719137145 1 0.811618089675903 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102499719 chr14:102499701 synonymous SNV . 0 3 hm5C_associated_SNPs_10663 2 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000477281.1
3875 chr14 102499701 102499701 1 + C T rs75075497 102499720 + 102499700 102499740 41 ACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATC ATGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATC < 41bp 1 0.505235675006609 1 0.816608428955078 experiment 0.989528649986781 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102499720 chr14:102499701 synonymous SNV . 0 2 hm5C_associated_SNPs_10664 2 Benign not specified RCV000433680.1
3875 chr14 102499701 102499701 1 + C T rs75075497 102499720 + 102499700 102499740 41 ACGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATC ATGAGGTGGAGCAGATGATCCGAGACCTGGAAGCCAGCATC < 41bp 1 0.505235675006609 1 0.816608428955078 experiment 0.989528649986781 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102499720 chr14:102499701 synonymous SNV . 0 2 hm5C_associated_SNPs_10664 2 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000477281.1
3875 chr14 105180785 105180785 1 + C T rs34251364 105180778 + 105180758 105180798 41 ACCACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGC ACCACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGC < 41bp 1 0.062189557902778 1 0.107746750116348 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180778 chr14:105180785 nonsynonymous SNV 0.010 1 28 hm5C_associated_SNPs_10716 2 Benign not specified RCV000244885.2
3875 chr14 105180785 105180785 1 + C T rs34251364 105180778 + 105180758 105180798 41 ACCACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGC ACCACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGC < 41bp 1 0.062189557902778 1 0.107746750116348 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180778 chr14:105180785 nonsynonymous SNV 0.010 1 28 hm5C_associated_SNPs_10716 2 Benign Focal segmental glomerulosclerosis RCV000309175.1
3875 chr14 105180785 105180785 1 + C T rs34251364 105180779 + 105180759 105180799 41 CCACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCC CCACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCC < 41bp 1 0.290684299381168 1 0.239322006702423 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180779 chr14:105180785 nonsynonymous SNV 0.010 1 27 hm5C_associated_SNPs_10717 2 Benign not specified RCV000244885.2
3875 chr14 105180785 105180785 1 + C T rs34251364 105180779 + 105180759 105180799 41 CCACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCC CCACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCC < 41bp 1 0.290684299381168 1 0.239322006702423 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180779 chr14:105180785 nonsynonymous SNV 0.010 1 27 hm5C_associated_SNPs_10717 2 Benign Focal segmental glomerulosclerosis RCV000309175.1
3875 chr14 105180785 105180785 1 + C T rs34251364 105180780 + 105180760 105180800 41 CACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCCT CACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCCT < 41bp 1 0.210981542288306 1 0.0486536026000977 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180780 chr14:105180785 nonsynonymous SNV 0.010 1 26 hm5C_associated_SNPs_10718 2 Benign not specified RCV000244885.2
3875 chr14 105180785 105180785 1 + C T rs34251364 105180780 + 105180760 105180800 41 CACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCCT CACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCCT < 41bp 1 0.210981542288306 1 0.0486536026000977 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180780 chr14:105180785 nonsynonymous SNV 0.010 1 26 hm5C_associated_SNPs_10718 2 Benign Focal segmental glomerulosclerosis RCV000309175.1
3875 chr14 105180785 105180785 1 + C T rs34251364 105180781 + 105180761 105180801 41 ACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCCTG ACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCCTG < 41bp 1 0.198449266155167 1 0.120468437671661 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180781 chr14:105180785 nonsynonymous SNV 0.010 1 25 hm5C_associated_SNPs_10719 2 Benign not specified RCV000244885.2
3875 chr14 105180785 105180785 1 + C T rs34251364 105180781 + 105180761 105180801 41 ACTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCCTG ACTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCCTG < 41bp 1 0.198449266155167 1 0.120468437671661 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180781 chr14:105180785 nonsynonymous SNV 0.010 1 25 hm5C_associated_SNPs_10719 2 Benign Focal segmental glomerulosclerosis RCV000309175.1
3875 chr14 105180785 105180785 1 + C T rs34251364 105180782 + 105180762 105180802 41 CTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCCTGG CTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCCTGG < 41bp 1 0.221408295395532 1 0.216400742530823 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180782 chr14:105180785 nonsynonymous SNV 0.010 1 24 hm5C_associated_SNPs_10720 2 Benign not specified RCV000244885.2
3875 chr14 105180785 105180785 1 + C T rs34251364 105180782 + 105180762 105180802 41 CTGAGGATCCCCAGTGCCCCCAGCCCTTGGAGGGGGCCTGG CTGAGGATCCCCAGTGCCCCCAGTCCTTGGAGGGGGCCTGG < 41bp 1 0.221408295395532 1 0.216400742530823 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180782 chr14:105180785 nonsynonymous SNV 0.010 1 24 hm5C_associated_SNPs_10720 2 Benign Focal segmental glomerulosclerosis RCV000309175.1
3875 chr14 105180785 105180785 1 + C T rs34251364 105180798 + 105180778 105180818 41 CCCCCAGCCCTTGGAGGGGGCCTGGCCGGTGACTCTGGGAG CCCCCAGTCCTTGGAGGGGGCCTGGCCGGTGACTCTGGGAG < 41bp 1 0.114349481584226 1 0.293519258499146 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180798 chr14:105180785 nonsynonymous SNV 0.010 1 8 hm5C_associated_SNPs_10721 2 Benign not specified RCV000244885.2
3875 chr14 105180785 105180785 1 + C T rs34251364 105180798 + 105180778 105180818 41 CCCCCAGCCCTTGGAGGGGGCCTGGCCGGTGACTCTGGGAG CCCCCAGTCCTTGGAGGGGGCCTGGCCGGTGACTCTGGGAG < 41bp 1 0.114349481584226 1 0.293519258499146 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control INF2 ENSG00000203485 CDS Human protein_coding chr14:105180798 chr14:105180785 nonsynonymous SNV 0.010 1 8 hm5C_associated_SNPs_10721 2 Benign Focal segmental glomerulosclerosis RCV000309175.1
3875 chr15 33022994 33022994 1 + C G rs111262341 33022993 + 33022973 33023013 41 GGGTCCCAAGGTGCCATCCCCCCGCCAGACAAGGCCCAGCA GGGTCCCAAGGTGCCATCCCCGCGCCAGACAAGGCCCAGCA < 41bp 1 0.765748863882984 1 0.679227590560913 experiment 0.468502272234033 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control GREM1 ENSG00000166923 CDS Human protein_coding chr15:33022993 chr15:33022994 nonsynonymous SNV 0.785 1 22 hm5C_associated_SNPs_10765 1 Likely benign not specified RCV000305327.1
3875 chr15 38545196 38545196 1 + C T rs556907443 38545190 + 38545170 38545210 41 CACGGCGGAGGTTGCTGCCGCCACCCCCCTGCGGGGGTGGC CACGGCGGAGGTTGCTGCCGCCACCCTCCTGCGGGGGTGGC < 41bp 1 0.185003165508936 1 0.468428015708923 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SPRED1 ENSG00000166068 UTR5 Human protein_coding chr15:38545190 chr15:38545196 . . 0 27 hm5C_associated_SNPs_10772 1 Uncertain significance Legius syndrome RCV000277494.1
3875 chr15 38545294 38545294 1 + C T rs192699510 38545300 + 38545280 38545320 41 CCCCCGCGCCCCCCCGGCCGCCGCTGCCTCCTGCCCCTCGG CCCCCGCGCCCCCCTGGCCGCCGCTGCCTCCTGCCCCTCGG < 41bp 1 0.702268543868134 1 0.0523906648159027 experiment 0.595462912263732 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SPRED1 ENSG00000166068 UTR5 Human protein_coding chr15:38545300 chr15:38545294 . . 0 15 hm5C_associated_SNPs_10773 1 Likely benign Legius syndrome RCV000271573.1
3875 chr15 38647456 38647456 1 + C T rs147489619 38647436 + 38647416 38647456 41 CAAAGTGCTGGGATTACAGGCATGAGCTACTGCGCCCAGCC CAAAGTGCTGGGATTACAGGCATGAGCTACTGCGCCCAGCT < 41bp 1 0.776350099996 1 0.444227576255798 experiment 0.447299800008 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SPRED1 ENSG00000166068 UTR3 Human protein_coding chr15:38647436 chr15:38647456 . . 0 41 hm5C_associated_SNPs_10781 1 Likely benign Legius syndrome RCV000333714.1
3875 chr15 40477831 40477831 1 + G A rs1801376 40477830 + 40477810 40477850 41 CATATGTGGAAGAGACTGCACGACAGCCAGTTATGTGAGTG CATATGTGGAAGAGACTGCACAACAGCCAGTTATGTGAGTG < 41bp 1 0.688096089231932 1 0.16503581404686 experiment 0.623807821536136 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control BUB1B ENSG00000156970 CDS Human protein_coding chr15:40477830 chr15:40477831 nonsynonymous SNV 0.977 0 22 hm5C_associated_SNPs_10788 2 Benign,Benign Mosaic variegated aneuploidy syndrome 1,not specified RCV000210495.3,RCV000120431.1
3875 chr15 40509803 40509803 1 + G A rs143232848 40509796 + 40509776 40509816 41 GTGCAGCTGGATGTTTTTACCCTCAGCGGCTTTCGGACTGT GTGCAGCTGGATGTTTTTACCCTCAGCAGCTTTCGGACTGT < 41bp 1 0.316488314543092 1 0.111525177955627 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control BUB1B ENSG00000156970;ENSG00000259288 CDS Human other chr15:40509796 chr15:40509803 nonsynonymous SNV 0.985 2 28 hm5C_associated_SNPs_10789 1 Uncertain significance Mosaic variegated aneuploidy syndrome 1 RCV000463687.1
3875 chr15 40509803 40509803 1 + G A rs143232848 40509802 + 40509782 40509822 41 CTGGATGTTTTTACCCTCAGCGGCTTTCGGACTGTACAGAT CTGGATGTTTTTACCCTCAGCAGCTTTCGGACTGTACAGAT < 41bp 1 0.3273606563556 1 0.389248043298721 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control BUB1B ENSG00000156970;ENSG00000259288 CDS Human other chr15:40509802 chr15:40509803 nonsynonymous SNV 0.985 2 22 hm5C_associated_SNPs_10790 1 Uncertain significance Mosaic variegated aneuploidy syndrome 1 RCV000463687.1
3875 chr15 40711058 40711058 1 + G A rs115034694 40711053 + 40711033 40711073 41 AATAATAAACCTAGCCTAGCCAGGCGTGGTGGCTCATGCTT AATAATAAACCTAGCCTAGCCAGGCATGGTGGCTCATGCTT < 41bp 1 0.538931472410088 1 0.369767010211945 experiment 0.922137055179825 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control IVD ENSG00000128928 UTR3 Human protein_coding chr15:40711053 chr15:40711058 . . 0 26 hm5C_associated_SNPs_10795 1 Likely benign Isovaleryl-CoA dehydrogenase deficiency RCV000345409.1
3875 chr15 40898643 40898643 1 + G C rs7177192 40898648 + 40898628 40898668 41 GAGGTGGGAATGAAAGAGTTCAGGTAAGTCTTTTGTGCAAA GAGGTGGGAATGAAACAGTTCAGGTAAGTCTTTTGTGCAAA < 41bp 1 0.541190442095034 1 0.35553839802742 experiment 0.917619115809933 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KNL1 ENSG00000137812 CDS Human protein_coding chr15:40898648 chr15:40898643 nonsynonymous SNV 0.891 0 16 hm5C_associated_SNPs_10800 2 Benign not specified RCV000116558.1
3875 chr15 40898643 40898643 1 + G C rs7177192 40898648 + 40898628 40898668 41 GAGGTGGGAATGAAAGAGTTCAGGTAAGTCTTTTGTGCAAA GAGGTGGGAATGAAACAGTTCAGGTAAGTCTTTTGTGCAAA < 41bp 1 0.541190442095034 1 0.35553839802742 experiment 0.917619115809933 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control KNL1 ENSG00000137812 CDS Human protein_coding chr15:40898648 chr15:40898643 nonsynonymous SNV 0.891 0 16 hm5C_associated_SNPs_10800 2 Benign Primary Microcephaly, Recessive RCV000371367.1
3875 chr15 57554344 57554344 1 + T G rs36060670 57554338 + 57554318 57554358 41 CAGTCTCAATGGCAATCATTCAGTCCTGTCTAGTACAGTCA CAGTCTCAATGGCAATCATTCAGTCCGGTCTAGTACAGTCA < 41bp 1 0.136617007405897 1 0.121703535318375 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control TCF12 ENSG00000140262 CDS Human protein_coding chr15:57554338 chr15:57554344 nonsynonymous SNV 1.000 4 27 hm5C_associated_SNPs_10864 1 Benign not provided RCV000417638.1
3875 chr15 57554344 57554344 1 + T G rs36060670 57554343 + 57554323 57554363 41 TCAATGGCAATCATTCAGTCCTGTCTAGTACAGTCACTACT TCAATGGCAATCATTCAGTCCGGTCTAGTACAGTCACTACT < 41bp 1 0.117407966315703 1 0.0515216588973999 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control TCF12 ENSG00000140262 CDS Human protein_coding chr15:57554343 chr15:57554344 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_10865 1 Benign not provided RCV000417638.1
3875 chr15 57554344 57554344 1 + T G rs36060670 57554353 + 57554333 57554373 41 TCATTCAGTCCTGTCTAGTACAGTCACTACTTCAAGCACAG TCATTCAGTCCGGTCTAGTACAGTCACTACTTCAAGCACAG < 41bp 1 0.192633944132576 1 0.0906772315502167 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control TCF12 ENSG00000140262 CDS Human protein_coding chr15:57554353 chr15:57554344 nonsynonymous SNV 1.000 4 12 hm5C_associated_SNPs_10866 1 Benign not provided RCV000417638.1
3875 chr15 57554344 57554344 1 + T G rs36060670 57554357 + 57554337 57554377 41 TCAGTCCTGTCTAGTACAGTCACTACTTCAAGCACAGACCT TCAGTCCGGTCTAGTACAGTCACTACTTCAAGCACAGACCT < 41bp 1 0.497205648844434 1 0.133619964122772 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control TCF12 ENSG00000140262 CDS Human protein_coding chr15:57554357 chr15:57554344 nonsynonymous SNV 1.000 4 8 hm5C_associated_SNPs_10867 1 Benign not provided RCV000417638.1
3875 chr15 57554344 57554344 1 + T G rs36060670 57554359 + 57554339 57554379 41 AGTCCTGTCTAGTACAGTCACTACTTCAAGCACAGACCTGA AGTCCGGTCTAGTACAGTCACTACTTCAAGCACAGACCTGA < 41bp 1 0.356112003809777 1 0.0685617923736572 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control TCF12 ENSG00000140262 CDS Human protein_coding chr15:57554359 chr15:57554344 nonsynonymous SNV 1.000 4 6 hm5C_associated_SNPs_10868 1 Benign not provided RCV000417638.1
3875 chr15 63358174 63358174 1 + A G rs140658011 63358189 + 63358169 63358209 41 TGTCTATTCTCCAGCTGACCCTGGTTCTCTCTCTTAGCATC TGTCTGTTCTCCAGCTGACCCTGGTTCTCTCTCTTAGCATC < 41bp 1 0.543295454892044 1 0.0909456610679626 experiment 0.913409090215911 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control TPM1 ENSG00000140416 CDS Human protein_coding chr15:63358189 chr15:63358174 synonymous SNV . 0 6 hm5C_associated_SNPs_10880 2 Uncertain significance Hypertrophic cardiomyopathy RCV000260250.1
3875 chr15 63358174 63358174 1 + A G rs140658011 63358189 + 63358169 63358209 41 TGTCTATTCTCCAGCTGACCCTGGTTCTCTCTCTTAGCATC TGTCTGTTCTCCAGCTGACCCTGGTTCTCTCTCTTAGCATC < 41bp 1 0.543295454892044 1 0.0909456610679626 experiment 0.913409090215911 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control TPM1 ENSG00000140416 CDS Human protein_coding chr15:63358189 chr15:63358174 synonymous SNV . 0 6 hm5C_associated_SNPs_10880 2 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000380601.1
3875 chr15 66783610 66783610 1 + G A rs8684 66783627 + 66783607 66783647 41 TCAGTATACTGTGTGGGATACTTAGTGGTATGTCTCTTTAA TCAATATACTGTGTGGGATACTTAGTGGTATGTCTCTTTAA < 41bp 1 0.17492893988731 1 0.0416848659515381 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control MAP2K1 ENSG00000261351 ncRNA_intronic Human antisense chr15:66783627 chr15:66783610 . . 0 4 hm5C_associated_SNPs_10910 2 Likely benign Noonan syndrome RCV000302049.1
3875 chr15 66783610 66783610 1 + G A rs8684 66783627 + 66783607 66783647 41 TCAGTATACTGTGTGGGATACTTAGTGGTATGTCTCTTTAA TCAATATACTGTGTGGGATACTTAGTGGTATGTCTCTTTAA < 41bp 1 0.17492893988731 1 0.0416848659515381 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control MAP2K1 ENSG00000261351 ncRNA_intronic Human antisense chr15:66783627 chr15:66783610 . . 0 4 hm5C_associated_SNPs_10910 2 Likely benign Cardio-facio-cutaneous syndrome RCV000403512.1
3875 chr15 66996307 66996307 1 + C T rs144415105 66996309 + 66996289 66996329 41 CTGGCCCGACCTGCAGCACGCCGTGGAGCTGAAGCCCCTGT CTGGCCCGACCTGCAGCATGCCGTGGAGCTGAAGCCCCTGT < 41bp 1 0.240194475135238 1 0.198065429925919 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SMAD6 ENSG00000137834 CDS Human protein_coding chr15:66996309 chr15:66996307 synonymous SNV . 0 19 hm5C_associated_SNPs_10915 1 Benign Aortic valve disease 2 RCV000470932.1
3875 chr15 67358465 67358465 1 + C T rs144374592 67358454 + 67358434 67358474 41 TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCC TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTTCTCGCCGCC < 41bp 1 0.779814998718681 1 0.779389381408691 experiment 0.440370002562637 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358454 chr15:67358465 . . 0 32 hm5C_associated_SNPs_10917 3 Benign not specified RCV000128166.3
3875 chr15 67358465 67358465 1 + C T rs144374592 67358454 + 67358434 67358474 41 TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCC TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTTCTCGCCGCC < 41bp 1 0.779814998718681 1 0.779389381408691 experiment 0.440370002562637 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358454 chr15:67358465 . . 0 32 hm5C_associated_SNPs_10917 3 Benign Loeys-Dietz syndrome RCV000318849.1
3875 chr15 67358465 67358465 1 + C T rs144374592 67358454 + 67358434 67358474 41 TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCC TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTTCTCGCCGCC < 41bp 1 0.779814998718681 1 0.779389381408691 experiment 0.440370002562637 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358454 chr15:67358465 . . 0 32 hm5C_associated_SNPs_10917 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000359576.1
3875 chr15 67358465 67358465 1 + C T rs144374592 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTTCTCGCCGCCCGCGCGC < 41bp 1 0.640908122780727 1 0.183935701847076 experiment 0.718183754438546 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358465 . . 0 25 hm5C_associated_SNPs_10918 3 Benign not specified RCV000128166.3
3875 chr15 67358465 67358465 1 + C T rs144374592 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTTCTCGCCGCCCGCGCGC < 41bp 1 0.640908122780727 1 0.183935701847076 experiment 0.718183754438546 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358465 . . 0 25 hm5C_associated_SNPs_10918 3 Benign Loeys-Dietz syndrome RCV000318849.1
3875 chr15 67358465 67358465 1 + C T rs144374592 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTTCTCGCCGCCCGCGCGC < 41bp 1 0.640908122780727 1 0.183935701847076 experiment 0.718183754438546 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358465 . . 0 25 hm5C_associated_SNPs_10918 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000359576.1
3875 chr15 67358470 67358470 1 + C T rs36221703 67358454 + 67358434 67358474 41 TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCC TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGTCGCC < 41bp 1 0.74516411324903 1 0.735756993293762 experiment 0.50967177350194 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358454 chr15:67358470 . . 0 37 hm5C_associated_SNPs_10919 3 Benign not specified RCV000128167.3
3875 chr15 67358470 67358470 1 + C T rs36221703 67358454 + 67358434 67358474 41 TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCC TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGTCGCC < 41bp 1 0.74516411324903 1 0.735756993293762 experiment 0.50967177350194 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358454 chr15:67358470 . . 0 37 hm5C_associated_SNPs_10919 3 Benign Loeys-Dietz syndrome RCV000264993.1
3875 chr15 67358470 67358470 1 + C T rs36221703 67358454 + 67358434 67358474 41 TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCC TCCCGTCGAGCCCAGCCCCGCCGGGGGCGCTCCTCGTCGCC < 41bp 1 0.74516411324903 1 0.735756993293762 experiment 0.50967177350194 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358454 chr15:67358470 . . 0 37 hm5C_associated_SNPs_10919 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000323863.1
3875 chr15 67358470 67358470 1 + C T rs36221703 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTCCTCGTCGCCCGCGCGC < 41bp 1 0.578555775669953 1 0.205430567264557 experiment 0.842888448660094 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358470 . . 0 30 hm5C_associated_SNPs_10920 3 Benign not specified RCV000128167.3
3875 chr15 67358470 67358470 1 + C T rs36221703 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTCCTCGTCGCCCGCGCGC < 41bp 1 0.578555775669953 1 0.205430567264557 experiment 0.842888448660094 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358470 . . 0 30 hm5C_associated_SNPs_10920 3 Benign Loeys-Dietz syndrome RCV000264993.1
3875 chr15 67358470 67358470 1 + C T rs36221703 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTCCTCGTCGCCCGCGCGC < 41bp 1 0.578555775669953 1 0.205430567264557 experiment 0.842888448660094 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358470 . . 0 30 hm5C_associated_SNPs_10920 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000323863.1
3875 chr15 67358478 67358478 1 + G A rs1061427 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCACGC < 41bp 1 0.593973784313727 1 0.262444168329239 experiment 0.812052431372547 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358478 . . 0 38 hm5C_associated_SNPs_10921 3 Benign not specified RCV000128168.4
3875 chr15 67358478 67358478 1 + G A rs1061427 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCACGC < 41bp 1 0.593973784313727 1 0.262444168329239 experiment 0.812052431372547 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358478 . . 0 38 hm5C_associated_SNPs_10921 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000288615.1
3875 chr15 67358478 67358478 1 + G A rs1061427 67358461 + 67358441 67358481 41 GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCGCGC GAGCCCAGCCCCGCCGGGGGCGCTCCTCGCCGCCCGCACGC < 41bp 1 0.593973784313727 1 0.262444168329239 experiment 0.812052431372547 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR5 Human protein_coding chr15:67358461 chr15:67358478 . . 0 38 hm5C_associated_SNPs_10921 3 Benign Loeys-Dietz syndrome RCV000378447.1
3875 chr15 67483192 67483192 1 + G A rs79368607 67483198 + 67483178 67483218 41 CAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACAG CAGACTCTTTTTTTAAGTGACAGCTTTCTGGGATGTCACAG < 41bp 1 0.270086697914374 1 0.0615594387054443 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483198 chr15:67483192 . . 0 15 hm5C_associated_SNPs_10922 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000285024.1
3875 chr15 67483192 67483192 1 + G A rs79368607 67483198 + 67483178 67483218 41 CAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACAG CAGACTCTTTTTTTAAGTGACAGCTTTCTGGGATGTCACAG < 41bp 1 0.270086697914374 1 0.0615594387054443 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483198 chr15:67483192 . . 0 15 hm5C_associated_SNPs_10922 2 Likely benign Loeys-Dietz syndrome RCV000339991.1
3875 chr15 89835982 89835982 1 + C A rs28378332 89835978 + 89835958 89835998 41 TATAAGAATACAGTCATACCCTTACAGCAGGGAGAGGAGGA TATAAGAATACAGTCATACCCTTAAAGCAGGGAGAGGAGGA < 41bp 1 0.438281396881712 1 0.190776169300079 experiment 1 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout FANCI ENSG00000140525 CDS Human protein_coding chr15:89835978 chr15:89835982 nonsynonymous SNV 0.347 0 25 hm5C_associated_SNPs_11039 1 Benign Fanconi anemia RCV000196010.2
3875 chr15 93482864 93482864 1 + A G rs117844037 93482846 + 93482826 93482866 41 TGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAA TGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAGAA < 41bp 1 0.357797454336083 1 0.496338993310928 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control CHD2 ENSG00000173575 CDS Human protein_coding chr15:93482846 chr15:93482864 nonsynonymous SNV 1.000 0 39 hm5C_associated_SNPs_11069 2 Likely benign not specified RCV000246416.2
3875 chr15 93482864 93482864 1 + A G rs117844037 93482846 + 93482826 93482866 41 TGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAA TGTTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAGAA < 41bp 1 0.357797454336083 1 0.496338993310928 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control CHD2 ENSG00000173575 CDS Human protein_coding chr15:93482846 chr15:93482864 nonsynonymous SNV 1.000 0 39 hm5C_associated_SNPs_11069 2 Benign Epileptic encephalopathy, childhood-onset RCV000474584.1
3875 chr15 93482864 93482864 1 + A G rs117844037 93482848 + 93482828 93482868 41 TTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAAAG TTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAGAAAG < 41bp 1 0.570931754251093 1 0.807113170623779 experiment 0.858136491497813 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control CHD2 ENSG00000173575 CDS Human protein_coding chr15:93482848 chr15:93482864 nonsynonymous SNV 1.000 0 37 hm5C_associated_SNPs_11070 2 Likely benign not specified RCV000246416.2
3875 chr15 93482864 93482864 1 + A G rs117844037 93482848 + 93482828 93482868 41 TTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAAAAAG TTAAAAAGCAGCCGAAGACTCAGCGTGGAAAGAGAAGAAAG < 41bp 1 0.570931754251093 1 0.807113170623779 experiment 0.858136491497813 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control CHD2 ENSG00000173575 CDS Human protein_coding chr15:93482848 chr15:93482864 nonsynonymous SNV 1.000 0 37 hm5C_associated_SNPs_11070 2 Benign Epileptic encephalopathy, childhood-onset RCV000474584.1
3875 chr16 1411894 1411894 1 + G A rs76594024 1411910 + 1411890 1411930 41 GCCCGTTCCACAACGTGACCCAGCACGAGCAGACCTTCCGC GCCCATTCCACAACGTGACCCAGCACGAGCAGACCTTCCGC < 41bp 1 0.787488804542515 1 0.758144974708557 experiment 0.42502239091497 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control GNPTG ENSG00000090581 CDS Human protein_coding chr16:1411910 chr16:1411894 synonymous SNV . 0 5 hm5C_associated_SNPs_11179 1 Uncertain significance Mucolipidosis, Type III Gamma RCV000270851.1
3875 chr16 2034276 2034276 1 + G C rs535377905 2034282 + 2034262 2034302 41 CTCTTCTTCCTGCCGGGGGGCGCGCGCTCCGAGATGATGGA CTCTTCTTCCTGCCCGGGGGCGCGCGCTCCGAGATGATGGA < 41bp 1 0.36073418529683 1 0.328366041183472 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control GFER ENSG00000127554 CDS Human protein_coding chr16:2034282 chr16:2034276 synonymous SNV . 0 15 hm5C_associated_SNPs_11211 1 Benign not specified RCV000196063.1
3875 chr16 3707747 3707747 1 + G A rs1053874 3707766 + 3707746 3707786 41 CGAGGCGCCGTTGTTCCCGACTCGGCTCTTCCCTTTAACTT CAAGGCGCCGTTGTTCCCGACTCGGCTCTTCCCTTTAACTT < 41bp 1 0.599271638209878 1 0.453109264373779 experiment 0.801456723580243 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient DNASE1 ENSG00000213918 CDS Human protein_coding chr16:3707766 chr16:3707747 nonsynonymous SNV 0.014 0 2 hm5C_associated_SNPs_11462 1 other Systemic lupus erythematosus, susceptibility to RCV000018346.2
3875 chr16 4388441 4388441 1 + G A rs72766567 4388427 + 4388407 4388447 41 GCTGGGCCTGGCCTGGGCAGCGCCCCCTGCAGAGGCCTTTG GCTGGGCCTGGCCTGGGCAGCGCCCCCTGCAGAGACCTTTG < 41bp 1 0.542114297662164 1 0.421105116605759 experiment 0.915771404675672 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control GLIS2 ENSG00000126603 UTR3 Human protein_coding chr16:4388427 chr16:4388441 . . 0 35 hm5C_associated_SNPs_11467 1 Uncertain significance Nephronophthisis RCV000323418.1
3875 chr16 8877832 8877832 1 + C T rs8275 8877842 + 8877822 8877862 41 GAGACATGCTCTTTTGGGGGCTGGGGCTTTAGCTAGAAGAA GAGACATGCTTTTTTGGGGGCTGGGGCTTTAGCTAGAAGAA < 41bp 1 0.623828323666096 1 0.458969235420227 experiment 0.752343352667808 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ABAT ENSG00000183044 UTR3 Human protein_coding chr16:8877842 chr16:8877832 . . 0 11 hm5C_associated_SNPs_11484 1 Likely benign Gamma-aminobutyric acid transaminase deficiency RCV000336177.1
3875 chr16 8877854 8877854 1 + C G rs12597124 8877842 + 8877822 8877862 41 GAGACATGCTCTTTTGGGGGCTGGGGCTTTAGCTAGAAGAA GAGACATGCTCTTTTGGGGGCTGGGGCTTTAGGTAGAAGAA < 41bp 1 0.634838489655558 1 0.450210452079773 experiment 0.730323020688884 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ABAT ENSG00000183044 UTR3 Human protein_coding chr16:8877842 chr16:8877854 . . 0 33 hm5C_associated_SNPs_11485 1 Benign Gamma-aminobutyric acid transaminase deficiency RCV000398947.1
3875 chr16 14038659 14038659 1 + T C rs2020955 14038675 + 14038655 14038695 41 AGCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG AGCACCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG < 41bp 1 0.239393174512181 1 0.146419376134872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14038675 chr16:14038659 nonsynonymous SNV 0.001 0 5 hm5C_associated_SNPs_11499 5 Benign not specified RCV000120806.2
3875 chr16 14038659 14038659 1 + T C rs2020955 14038675 + 14038655 14038695 41 AGCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG AGCACCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG < 41bp 1 0.239393174512181 1 0.146419376134872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14038675 chr16:14038659 nonsynonymous SNV 0.001 0 5 hm5C_associated_SNPs_11499 5 Likely benign Xeroderma pigmentosum RCV000355415.1
3875 chr16 14038659 14038659 1 + T C rs2020955 14038675 + 14038655 14038695 41 AGCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG AGCACCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG < 41bp 1 0.239393174512181 1 0.146419376134872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14038675 chr16:14038659 nonsynonymous SNV 0.001 0 5 hm5C_associated_SNPs_11499 5 Benign Cockayne syndrome RCV000466960.1
3875 chr16 14038659 14038659 1 + T C rs2020955 14038675 + 14038655 14038695 41 AGCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG AGCACCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG < 41bp 1 0.239393174512181 1 0.146419376134872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14038675 chr16:14038659 nonsynonymous SNV 0.001 0 5 hm5C_associated_SNPs_11499 5 Benign Fanconi anemia, complementation group Q RCV000466960.1
3875 chr16 14038659 14038659 1 + T C rs2020955 14038675 + 14038655 14038695 41 AGCATCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG AGCACCTGCAGATGTTTCCACTGACACTCGGAAAGCCGGTG < 41bp 1 0.239393174512181 1 0.146419376134872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14038675 chr16:14038659 nonsynonymous SNV 0.001 0 5 hm5C_associated_SNPs_11499 5 Benign Xeroderma pigmentosum, group F RCV000466960.1
3875 chr16 15788041 15788041 1 + G T rs570994490 15788047 + 15788027 15788067 41 GACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCCCG GACGACTCCACCGGTGGGACCCCCCTCACACCTGCGGCCCG < 41bp 1 0.182133652490339 1 0.0634188055992126 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788047 chr16:15788041 synonymous SNV . 0 15 hm5C_associated_SNPs_11508 1 Uncertain significance not specified RCV000194660.1
3875 chr16 15788062 15788062 1 + G A rs1123418 15788047 + 15788027 15788067 41 GACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCCCG GACGACTCCACCGGGGGGACCCCCCTCACACCTGCAGCCCG < 41bp 1 0.170271322158392 1 0.103989154100418 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788047 chr16:15788062 synonymous SNV . 0 36 hm5C_associated_SNPs_11509 2 Uncertain significance Lissencephaly 4 RCV000146499.1
3875 chr16 15788062 15788062 1 + G A rs1123418 15788047 + 15788027 15788067 41 GACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCCCG GACGACTCCACCGGGGGGACCCCCCTCACACCTGCAGCCCG < 41bp 1 0.170271322158392 1 0.103989154100418 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788047 chr16:15788062 synonymous SNV . 0 36 hm5C_associated_SNPs_11509 2 Likely benign not specified RCV000427106.1
3875 chr16 30998266 30998266 1 + G A rs143434186 30998260 + 30998240 30998280 41 ACTTCTACCGCCAGGGCCTGCGCCTGGGAGGTTGGCTCTTC ACTTCTACCGCCAGGGCCTGCGCCTGAGAGGTTGGCTCTTC < 41bp 1 0.647209800427732 1 0.20272421836853 experiment 0.705580399144537 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control HSD3B7 ENSG00000099377 CDS Human protein_coding chr16:30998260 chr16:30998266 nonsynonymous SNV 0.582 3 27 hm5C_associated_SNPs_11631 1 Uncertain significance not specified RCV000179539.1
3875 chr16 31191482 31191482 1 + A G rs929867 31191478 + 31191458 31191498 41 CTGCTCAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGAA CTGCTCAGTCCTCCAGGCGTCGGTGCTCAGCGGTGTTGGAA < 41bp 1 0.460606531178612 1 0.399450600147247 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control FUS ENSG00000089280 UTR5 Human protein_coding chr16:31191478 chr16:31191482 . . 0 25 hm5C_associated_SNPs_11638 1 Benign Amyotrophic Lateral Sclerosis, Dominant RCV000307180.1
3875 chr16 31191482 31191482 1 + A G rs929867 31191483 + 31191463 31191503 41 CAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGAACTTCG CAGTCCTCCAGGCGTCGGTGCTCAGCGGTGTTGGAACTTCG < 41bp 1 0.329508905183148 1 0.174594640731812 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FUS ENSG00000089280 UTR5 Human protein_coding chr16:31191483 chr16:31191482 . . 0 20 hm5C_associated_SNPs_11639 1 Benign Amyotrophic Lateral Sclerosis, Dominant RCV000307180.1
3875 chr16 31191497 31191497 1 + A G rs67676356 31191478 + 31191458 31191498 41 CTGCTCAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGAA CTGCTCAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGGA < 41bp 1 0.53624462149498 1 0.437256783246994 experiment 0.927510757010039 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control FUS ENSG00000089280 UTR5 Human protein_coding chr16:31191478 chr16:31191497 . . 0 40 hm5C_associated_SNPs_11642 1 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000301801.1
3875 chr16 31191497 31191497 1 + A G rs67676356 31191483 + 31191463 31191503 41 CAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGAACTTCG CAGTCCTCCAGGCGTCGGTACTCAGCGGTGTTGGGACTTCG < 41bp 1 0.34676884714378 1 0.391447156667709 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FUS ENSG00000089280 UTR5 Human protein_coding chr16:31191483 chr16:31191497 . . 0 35 hm5C_associated_SNPs_11643 1 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000301801.1
3875 chr16 46723598 46723598 1 + T C rs33994299 46723587 + 46723567 46723607 41 TTTCGTTGACCCGCGGCGTTCACGGGAATTGTTCGCTTTAG TTTCGTTGACCCGCGGCGTTCACGGGAATTGCTCGCTTTAG < 41bp 1 0.798776751302543 1 0.682891964912415 experiment 0.402446497394913 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723587 chr16:46723598 . . 0 32 hm5C_associated_SNPs_11651 3 Benign not specified RCV000242816.1
3875 chr16 46723598 46723598 1 + T C rs33994299 46723587 + 46723567 46723607 41 TTTCGTTGACCCGCGGCGTTCACGGGAATTGTTCGCTTTAG TTTCGTTGACCCGCGGCGTTCACGGGAATTGCTCGCTTTAG < 41bp 1 0.798776751302543 1 0.682891964912415 experiment 0.402446497394913 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723587 chr16:46723598 . . 0 32 hm5C_associated_SNPs_11651 3 Benign Meier-Gorlin syndrome RCV000364037.1
3875 chr16 46723598 46723598 1 + T C rs33994299 46723587 + 46723567 46723607 41 TTTCGTTGACCCGCGGCGTTCACGGGAATTGTTCGCTTTAG TTTCGTTGACCCGCGGCGTTCACGGGAATTGCTCGCTTTAG < 41bp 1 0.798776751302543 1 0.682891964912415 experiment 0.402446497394913 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control ORC6 ENSG00000091651 UTR5 Human protein_coding chr16:46723587 chr16:46723598 . . 0 32 hm5C_associated_SNPs_11651 3 Benign Parkinson Disease, Dominant RCV000367122.1
3875 chr16 50813910 50813910 1 + C T rs75757530 50813901 + 50813881 50813921 41 CCTCCTTTCTATGGGGTAATCCGTTGGATCGGTCAGCCACC CCTCCTTTCTATGGGGTAATCCGTTGGATTGGTCAGCCACC < 41bp 1 0.274417086084876 1 0.170062482357025 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control CYLD ENSG00000083799 CDS Human protein_coding chr16:50813901 chr16:50813910 synonymous SNV . 0 30 hm5C_associated_SNPs_11673 3 Likely benign Cylindromatosis, familial RCV000304442.1
3875 chr16 50813910 50813910 1 + C T rs75757530 50813901 + 50813881 50813921 41 CCTCCTTTCTATGGGGTAATCCGTTGGATCGGTCAGCCACC CCTCCTTTCTATGGGGTAATCCGTTGGATTGGTCAGCCACC < 41bp 1 0.274417086084876 1 0.170062482357025 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control CYLD ENSG00000083799 CDS Human protein_coding chr16:50813901 chr16:50813910 synonymous SNV . 0 30 hm5C_associated_SNPs_11673 3 Likely benign Trichoepithelioma multiple familial 2 RCV000361447.1
3875 chr16 50813910 50813910 1 + C T rs75757530 50813901 + 50813881 50813921 41 CCTCCTTTCTATGGGGTAATCCGTTGGATCGGTCAGCCACC CCTCCTTTCTATGGGGTAATCCGTTGGATTGGTCAGCCACC < 41bp 1 0.274417086084876 1 0.170062482357025 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control CYLD ENSG00000083799 CDS Human protein_coding chr16:50813901 chr16:50813910 synonymous SNV . 0 30 hm5C_associated_SNPs_11673 3 Likely benign Spiegler-Brooke syndrome RCV000390589.1
3875 chr16 53738114 53738114 1 + T C rs73609956 53738107 + 53738087 53738127 41 TAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAG TAGTGGCAGCATGAAGCGCACCCCGACCGCCGAGGAACGAG < 41bp 1 0.379662520612815 1 0.386025726795197 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTO ENSG00000140718 CDS Human protein_coding chr16:53738107 chr16:53738114 synonymous SNV . 0 28 hm5C_associated_SNPs_11676 4 Likely benign Meckel-Gruber syndrome RCV000274776.1
3875 chr16 53738114 53738114 1 + T C rs73609956 53738107 + 53738087 53738127 41 TAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAG TAGTGGCAGCATGAAGCGCACCCCGACCGCCGAGGAACGAG < 41bp 1 0.379662520612815 1 0.386025726795197 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTO ENSG00000140718 CDS Human protein_coding chr16:53738107 chr16:53738114 synonymous SNV . 0 28 hm5C_associated_SNPs_11676 4 Likely benign Joubert syndrome RCV000318257.1
3875 chr16 53738114 53738114 1 + T C rs73609956 53738107 + 53738087 53738127 41 TAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAG TAGTGGCAGCATGAAGCGCACCCCGACCGCCGAGGAACGAG < 41bp 1 0.379662520612815 1 0.386025726795197 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTO ENSG00000140718 CDS Human protein_coding chr16:53738107 chr16:53738114 synonymous SNV . 0 28 hm5C_associated_SNPs_11676 4 Likely benign Growth retardation, developmental delay, coarse facies, and early death RCV000336116.1
3875 chr16 53738114 53738114 1 + T C rs73609956 53738107 + 53738087 53738127 41 TAGTGGCAGCATGAAGCGCACCCCGACTGCCGAGGAACGAG TAGTGGCAGCATGAAGCGCACCCCGACCGCCGAGGAACGAG < 41bp 1 0.379662520612815 1 0.386025726795197 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTO ENSG00000140718 CDS Human protein_coding chr16:53738107 chr16:53738114 synonymous SNV . 0 28 hm5C_associated_SNPs_11676 4 Likely benign Nephronophthisis RCV000375411.1
3875 chr16 54148007 54148007 1 + C T rs147409759 54147995 + 54147975 54148015 41 CAAAGCGCTGGGATTACAGGCGTGAGCCACCGCGCCAAGCC CAAAGCGCTGGGATTACAGGCGTGAGCCACCGTGCCAAGCC < 41bp 1 0.796845891560235 1 0.30267271399498 experiment 0.406308216879529 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control FTO ENSG00000214696 ncRNA_exonic Human other chr16:54147995 chr16:54148007 . . 0 33 hm5C_associated_SNPs_11680 1 Uncertain significance Growth retardation, developmental delay, coarse facies, and early death RCV000322133.1
3875 chr16 54148007 54148007 1 + C T rs147409759 54148002 + 54147982 54148022 41 CTGGGATTACAGGCGTGAGCCACCGCGCCAAGCCAAGGTCT CTGGGATTACAGGCGTGAGCCACCGTGCCAAGCCAAGGTCT < 41bp 1 0.762383350627034 1 0.667977571487427 experiment 0.475233298745933 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control FTO ENSG00000214696 ncRNA_exonic Human other chr16:54148002 chr16:54148007 . . 0 26 hm5C_associated_SNPs_11681 1 Uncertain significance Growth retardation, developmental delay, coarse facies, and early death RCV000322133.1
3875 chr16 54148007 54148007 1 + C T rs147409759 54148004 + 54147984 54148024 41 GGGATTACAGGCGTGAGCCACCGCGCCAAGCCAAGGTCTGC GGGATTACAGGCGTGAGCCACCGTGCCAAGCCAAGGTCTGC < 41bp 1 0.332791662972315 1 0.162657856941223 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control FTO ENSG00000214696 ncRNA_exonic Human other chr16:54148004 chr16:54148007 . . 0 24 hm5C_associated_SNPs_11682 1 Uncertain significance Growth retardation, developmental delay, coarse facies, and early death RCV000322133.1
3875 chr16 54148007 54148007 1 + C T rs147409759 54148005 + 54147985 54148025 41 GGATTACAGGCGTGAGCCACCGCGCCAAGCCAAGGTCTGCA GGATTACAGGCGTGAGCCACCGTGCCAAGCCAAGGTCTGCA < 41bp 1 0.437310372819705 1 0.275184869766235 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control FTO ENSG00000214696 ncRNA_exonic Human other chr16:54148005 chr16:54148007 . . 0 23 hm5C_associated_SNPs_11683 1 Uncertain significance Growth retardation, developmental delay, coarse facies, and early death RCV000322133.1
3875 chr16 55523622 55523622 1 + C T rs41513346 55523610 + 55523590 55523630 41 AAGGTGCCCCCTGTGTCTTCCCCTTCACTTTCCTGGGCAAC AAGGTGCCCCCTGTGTCTTCCCCTTCACTTTCTTGGGCAAC < 41bp 1 0.0392619562493514 1 0.321379691362381 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MMP2 ENSG00000087245 CDS Human protein_coding chr16:55523610 chr16:55523622 synonymous SNV . 0 33 hm5C_associated_SNPs_11686 1 Likely benign Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000295497.1
3875 chr16 55527073 55527073 1 + C T rs17859943 55527074 + 55527054 55527094 41 CAGGTGTTCTCCCCAGGGGCCTCTCCTGACATTGACCTTGG CAGGTGTTCTCCCCAGGGGTCTCTCCTGACATTGACCTTGG < 41bp 1 0.122666675755009 1 0.0997463762760162 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MMP2 ENSG00000087245 CDS Human protein_coding chr16:55527074 chr16:55527073 nonsynonymous SNV 0.905 0 20 hm5C_associated_SNPs_11687 1 Likely benign Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000340310.1
3875 chr16 57494636 57494636 1 + C T rs373048666 57494618 + 57494598 57494638 41 GAAAAGTATAAGGTGCCATCCACATAACCTGGTGTTCACGA GAAAAGTATAAGGTGCCATCCACATAACCTGGTGTTCATGA < 41bp 1 0.160338179036455 1 0.204910606145859 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COQ9 ENSG00000088682 UTR3 Human protein_coding chr16:57494618 chr16:57494636 . . 0 39 hm5C_associated_SNPs_11738 1 Uncertain significance Coenzyme Q10 deficiency, primary RCV000362837.1
3875 chr16 68718560 68718560 1 + G A rs11860187 68718546 + 68718526 68718566 41 TTGAAGTGACCAACGAGGCCCCTTTTGTGCTGAAGCTCCCA TTGAAGTGACCAACGAGGCCCCTTTTGTGCTGAAACTCCCA < 41bp 1 0.00870832045443952 1 0.0677976906299591 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control CDH3 ENSG00000062038 CDS Human protein_coding chr16:68718546 chr16:68718560 synonymous SNV . 0 35 hm5C_associated_SNPs_11782 1 Likely benign EEM syndrome RCV000381149.1
3875 chr16 88495407 88495407 1 + G C rs7199961 88495410 + 88495390 88495430 41 GCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCC GCCTTTCCCCGCGGGGGCCCCCGAGTGGCAGGGGGGCAGCC < 41bp 1 0.233712591017128 1 0.66734105348587 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88495410 chr16:88495407 nonsynonymous SNV 0.000 0 18 hm5C_associated_SNPs_11923 2 Benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility RCV000266943.1
3875 chr16 88495407 88495407 1 + G C rs7199961 88495410 + 88495390 88495430 41 GCCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCC GCCTTTCCCCGCGGGGGCCCCCGAGTGGCAGGGGGGCAGCC < 41bp 1 0.233712591017128 1 0.66734105348587 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88495410 chr16:88495407 nonsynonymous SNV 0.000 0 18 hm5C_associated_SNPs_11923 2 Benign not specified RCV000430870.1
3875 chr16 88495407 88495407 1 + G C rs7199961 88495411 + 88495391 88495431 41 CCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCA CCTTTCCCCGCGGGGGCCCCCGAGTGGCAGGGGGGCAGCCA < 41bp 1 0.527111427727172 1 0.878608345985413 experiment 0.945777144545657 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88495411 chr16:88495407 nonsynonymous SNV 0.000 0 17 hm5C_associated_SNPs_11924 2 Benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility RCV000266943.1
3875 chr16 88495407 88495407 1 + G C rs7199961 88495411 + 88495391 88495431 41 CCTTTCCCCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCA CCTTTCCCCGCGGGGGCCCCCGAGTGGCAGGGGGGCAGCCA < 41bp 1 0.527111427727172 1 0.878608345985413 experiment 0.945777144545657 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88495411 chr16:88495407 nonsynonymous SNV 0.000 0 17 hm5C_associated_SNPs_11924 2 Benign not specified RCV000430870.1
3875 chr16 88495407 88495407 1 + G C rs7199961 88495418 + 88495398 88495438 41 CCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCC CCGCGGGGGCCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCC < 41bp 1 0.664352708538375 1 0.882985472679138 experiment 0.67129458292325 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88495418 chr16:88495407 nonsynonymous SNV 0.000 0 10 hm5C_associated_SNPs_11925 2 Benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility RCV000266943.1
3875 chr16 88495407 88495407 1 + G C rs7199961 88495418 + 88495398 88495438 41 CCGCGGGGGGCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCC CCGCGGGGGCCCCCGAGTGGCAGGGGGGCAGCCAAGGAGCC < 41bp 1 0.664352708538375 1 0.882985472679138 experiment 0.67129458292325 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88495418 chr16:88495407 nonsynonymous SNV 0.000 0 10 hm5C_associated_SNPs_11925 2 Benign not specified RCV000430870.1
3875 chr16 88498804 88498804 1 + G A rs117310292 88498824 + 88498804 88498844 41 GGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGG AGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGG < 41bp 1 0.214893959208385 1 0.671915531158447 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88498824 chr16:88498804 synonymous SNV . 0 1 hm5C_associated_SNPs_11926 2 Likely benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility RCV000272457.1
3875 chr16 88498804 88498804 1 + G A rs117310292 88498824 + 88498804 88498844 41 GGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGG AGCTGTGGCCACCGTGGAAGCGGTTCAGGGGAGGCCTGGGG < 41bp 1 0.214893959208385 1 0.671915531158447 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88498824 chr16:88498804 synonymous SNV . 0 1 hm5C_associated_SNPs_11926 2 Benign not specified RCV000437681.1
3875 chr16 88874566 88874566 1 + G A rs139633564 88874551 + 88874531 88874571 41 GAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCGGACTG GAGAAGCACCTGCTGCTCCTCTCCGAGCTGCTGCCAGACTG < 41bp 1 0.771369218462754 1 0.821058750152588 experiment 0.457261563074493 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CDT1 ENSG00000167513 CDS Human protein_coding chr16:88874551 chr16:88874566 synonymous SNV . 0 36 hm5C_associated_SNPs_11949 1 Likely benign not specified RCV000116643.2
3875 chr16 89603217 89603217 1 + C T rs144415749 89603199 + 89603179 89603219 41 CTCTTGACCAGCTACCCTCCCAGGGGACCATGAGGAAGCTC CTCTTGACCAGCTACCCTCCCAGGGGACCATGAGGAAGTTC < 41bp 1 0.696811761741601 1 0.501458942890167 experiment 0.606376476516798 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SPG7 ENSG00000197912 CDS Human protein_coding chr16:89603199 chr16:89603217 nonsynonymous SNV 0.004 1 39 hm5C_associated_SNPs_11953 1 Benign not specified RCV000199673.1
3875 chr16 89620302 89620302 1 + G A rs79756036 89620301 + 89620281 89620321 41 GCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCA GCCCATCTCCTTCCCTGAGGCACAGGAGGGCCTCATGGGCA < 41bp 1 0.612781914140148 1 0.401648491621017 experiment 0.774436171719703 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SPG7 ENSG00000197912 CDS Human protein_coding chr16:89620301 chr16:89620302 synonymous SNV . 0 22 hm5C_associated_SNPs_11955 3 Benign not specified RCV000128209.1
3875 chr16 89620302 89620302 1 + G A rs79756036 89620301 + 89620281 89620321 41 GCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCA GCCCATCTCCTTCCCTGAGGCACAGGAGGGCCTCATGGGCA < 41bp 1 0.612781914140148 1 0.401648491621017 experiment 0.774436171719703 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SPG7 ENSG00000197912 CDS Human protein_coding chr16:89620301 chr16:89620302 synonymous SNV . 0 22 hm5C_associated_SNPs_11955 3 Benign Spastic paraplegia 7 RCV000226866.1
3875 chr16 89620302 89620302 1 + G A rs79756036 89620301 + 89620281 89620321 41 GCCCATCTCCTTCCCTGAGGCGCAGGAGGGCCTCATGGGCA GCCCATCTCCTTCCCTGAGGCACAGGAGGGCCTCATGGGCA < 41bp 1 0.612781914140148 1 0.401648491621017 experiment 0.774436171719703 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control SPG7 ENSG00000197912 CDS Human protein_coding chr16:89620301 chr16:89620302 synonymous SNV . 0 22 hm5C_associated_SNPs_11955 3 Uncertain significance Spastic Paraplegia, Recessive RCV000281502.1
3875 chr16 89985117 89985117 1 + G A rs372719558 89985128 + 89985108 89985148 41 TTTTTTAACGTAAAGGAGATCCGCGGTGTGAGGGACCCCCT TTTTTTAACATAAAGGAGATCCGCGGTGTGAGGGACCCCCT < 41bp 1 0.592744351502888 1 0.189578026533127 experiment 0.814511296994224 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MC1R ENSG00000258839 UTR5 Human protein_coding chr16:89985128 chr16:89985117 . . 0 10 hm5C_associated_SNPs_12023 1 Likely benign Malignant Melanoma Susceptibility RCV000304816.1
3875 chr16 89985131 89985131 1 + C T rs3212379 89985128 + 89985108 89985148 41 TTTTTTAACGTAAAGGAGATCCGCGGTGTGAGGGACCCCCT TTTTTTAACGTAAAGGAGATCCGTGGTGTGAGGGACCCCCT < 41bp 1 0.473108920862163 1 0.491662800312042 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MC1R ENSG00000258839 UTR5 Human protein_coding chr16:89985128 chr16:89985131 . . 0 24 hm5C_associated_SNPs_12024 1 Likely benign Malignant Melanoma Susceptibility RCV000359513.1
3875 chr16 89985132 89985132 1 + G A rs557576978 89985128 + 89985108 89985148 41 TTTTTTAACGTAAAGGAGATCCGCGGTGTGAGGGACCCCCT TTTTTTAACGTAAAGGAGATCCGCAGTGTGAGGGACCCCCT < 41bp 1 0.671970096450187 1 0.241234362125397 experiment 0.656059807099626 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control MC1R ENSG00000258839 UTR5 Human protein_coding chr16:89985128 chr16:89985132 . . 0 25 hm5C_associated_SNPs_12025 1 Likely benign Malignant Melanoma Susceptibility RCV000272416.1
3875 chr16 90001525 90001525 1 + C T rs61743676 90001517 + 90001497 90001537 41 GCACCCTCAAGCTGGCCACGCCCACCTACGGGGACCTCAAC GCACCCTCAAGCTGGCCACGCCCACCTATGGGGACCTCAAC < 41bp 1 0.0715575308544362 1 0.0835148394107819 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:90001517 chr16:90001525 synonymous SNV . 0 29 hm5C_associated_SNPs_12026 1 Likely benign not specified RCV000147854.2
3875 chr17 1637458 1637458 1 + G A rs8065251 1637447 + 1637427 1637467 41 GCGTCTTCTTCGTGGGCCAGCTTGAGGCCCCGCAGCACGTG GCGTCTTCTTCGTGGGCCAGCTTGAGGCCCCACAGCACGTG < 41bp 1 0.54691885726793 1 0.324400395154953 experiment 0.90616228546414 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control WDR81 ENSG00000167716 CDS Human protein_coding chr17:1637447 chr17:1637458 synonymous SNV . 0 32 hm5C_associated_SNPs_12035 1 Likely benign not specified RCV000118858.2
3875 chr17 2585948 2585948 1 + A G rs144602512 2585961 + 2585941 2585981 41 GTGTGTCATGGTACAAATCACTATTCGTTTTTGGTGTTTTT GTGTGTCGTGGTACAAATCACTATTCGTTTTTGGTGTTTTT < 41bp 1 0.0735019182079949 1 0.0454476475715637 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control PAFAH1B1 ENSG00000007168 UTR3 Human protein_coding chr17:2585961 chr17:2585948 . . 0 8 hm5C_associated_SNPs_12046 1 Likely benign Lissencephaly/Subcortical Band Heterotopia RCV000335584.1
3875 chr17 4856376 4856376 1 + A G rs238238 4856386 + 4856366 4856406 41 AACATCAACAATACTCTGGGCCCTGCTCTGCTGCAAAAGGC AACATCAACAGTACTCTGGGCCCTGCTCTGCTGCAAAAGGC < 41bp 1 0.0754226825513369 1 0.122461467981339 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient ENO3 ENSG00000108515 CDS Human protein_coding chr17:4856386 chr17:4856376 nonsynonymous SNV 0.997 0 11 hm5C_associated_SNPs_12071 2 Benign Glycogen storage disease type 13 RCV000391776.1
3875 chr17 4856376 4856376 1 + A G rs238238 4856386 + 4856366 4856406 41 AACATCAACAATACTCTGGGCCCTGCTCTGCTGCAAAAGGC AACATCAACAGTACTCTGGGCCCTGCTCTGCTGCAAAAGGC < 41bp 1 0.0754226825513369 1 0.122461467981339 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient ENO3 ENSG00000108515 CDS Human protein_coding chr17:4856386 chr17:4856376 nonsynonymous SNV 0.997 0 11 hm5C_associated_SNPs_12071 2 Benign not specified RCV000438689.1
3875 chr17 4856390 4856390 1 + G C rs143945974 4856386 + 4856366 4856406 41 AACATCAACAATACTCTGGGCCCTGCTCTGCTGCAAAAGGC AACATCAACAATACTCTGGGCCCTCCTCTGCTGCAAAAGGC < 41bp 1 0.0222364583834786 1 0.0793352127075195 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient ENO3 ENSG00000108515 CDS Human protein_coding chr17:4856386 chr17:4856390 nonsynonymous SNV 0.998 2 25 hm5C_associated_SNPs_12072 2 Likely benign Glycogen storage disease type 13 RCV000304019.1
3875 chr17 4856390 4856390 1 + G C rs143945974 4856386 + 4856366 4856406 41 AACATCAACAATACTCTGGGCCCTGCTCTGCTGCAAAAGGC AACATCAACAATACTCTGGGCCCTCCTCTGCTGCAAAAGGC < 41bp 1 0.0222364583834786 1 0.0793352127075195 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient ENO3 ENSG00000108515 CDS Human protein_coding chr17:4856386 chr17:4856390 nonsynonymous SNV 0.998 2 25 hm5C_associated_SNPs_12072 2 Benign not specified RCV000439646.1
3875 chr17 4856580 4856580 1 + T C rs238239 4856570 + 4856550 4856590 41 CAAACTCACCCTTCCAGAAACTAAGCGTTGTGGATCAAGAA CAAACTCACCCTTCCAGAAACTAAGCGTTGCGGATCAAGAA < 41bp 1 0.19777864546412 1 0.137696832418442 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4856570 chr17:4856580 nonsynonymous SNV 1.000 0 31 hm5C_associated_SNPs_12073 2 Benign Glycogen storage disease type 13 RCV000361105.1
3875 chr17 4856580 4856580 1 + T C rs238239 4856570 + 4856550 4856590 41 CAAACTCACCCTTCCAGAAACTAAGCGTTGTGGATCAAGAA CAAACTCACCCTTCCAGAAACTAAGCGTTGCGGATCAAGAA < 41bp 1 0.19777864546412 1 0.137696832418442 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4856570 chr17:4856580 nonsynonymous SNV 1.000 0 31 hm5C_associated_SNPs_12073 2 Benign not specified RCV000417989.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859344 + 4859324 4859364 41 ATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCC ATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCT < 41bp 1 0.522749245927658 1 0.405509471893311 experiment 0.954501508144684 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859344 chr17:4859364 synonymous SNV . 0 41 hm5C_associated_SNPs_12074 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859344 + 4859324 4859364 41 ATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCC ATGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCT < 41bp 1 0.522749245927658 1 0.405509471893311 experiment 0.954501508144684 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859344 chr17:4859364 synonymous SNV . 0 41 hm5C_associated_SNPs_12074 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859345 + 4859325 4859365 41 TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCG TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCTG < 41bp 1 0.211612381545924 1 0.287932217121124 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859345 chr17:4859364 synonymous SNV . 0 40 hm5C_associated_SNPs_12075 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859345 + 4859325 4859365 41 TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCG TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCTG < 41bp 1 0.211612381545924 1 0.287932217121124 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859345 chr17:4859364 synonymous SNV . 0 40 hm5C_associated_SNPs_12075 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859357 + 4859337 4859377 41 CACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGG CACCAACCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGG < 41bp 1 0.231656725366409 1 0.0801554024219513 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859357 chr17:4859364 synonymous SNV . 0 28 hm5C_associated_SNPs_12076 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859357 + 4859337 4859377 41 CACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGG CACCAACCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGG < 41bp 1 0.231656725366409 1 0.0801554024219513 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859357 chr17:4859364 synonymous SNV . 0 28 hm5C_associated_SNPs_12076 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859358 + 4859338 4859378 41 ACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGC ACCAACCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGC < 41bp 1 0.364824947211001 1 0.180778324604034 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859358 chr17:4859364 synonymous SNV . 0 27 hm5C_associated_SNPs_12077 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859358 + 4859338 4859378 41 ACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGC ACCAACCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGC < 41bp 1 0.364824947211001 1 0.180778324604034 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859358 chr17:4859364 synonymous SNV . 0 27 hm5C_associated_SNPs_12077 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859359 + 4859339 4859379 41 CCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCC CCAACCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGCC < 41bp 1 0.482203135197092 1 0.717622756958008 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859359 chr17:4859364 synonymous SNV . 0 26 hm5C_associated_SNPs_12078 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859359 + 4859339 4859379 41 CCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCC CCAACCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGCC < 41bp 1 0.482203135197092 1 0.717622756958008 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859359 chr17:4859364 synonymous SNV . 0 26 hm5C_associated_SNPs_12078 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859363 + 4859343 4859383 41 CCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCA CCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGCCTGCA < 41bp 1 0.34103574123648 1 0.107280939817429 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859363 chr17:4859364 synonymous SNV . 0 22 hm5C_associated_SNPs_12079 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859363 + 4859343 4859383 41 CCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCA CCCCAAGAGGATTGCCCAGGCTGTTGAGAAGAAGGCCTGCA < 41bp 1 0.34103574123648 1 0.107280939817429 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859363 chr17:4859364 synonymous SNV . 0 22 hm5C_associated_SNPs_12079 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859378 + 4859358 4859398 41 CCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA CCAGGCTGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA < 41bp 1 0.136367374189168 1 0.0723675191402435 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859378 chr17:4859364 synonymous SNV . 0 7 hm5C_associated_SNPs_12080 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859378 + 4859358 4859398 41 CCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA CCAGGCTGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA < 41bp 1 0.136367374189168 1 0.0723675191402435 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859378 chr17:4859364 synonymous SNV . 0 7 hm5C_associated_SNPs_12080 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859379 + 4859359 4859399 41 CAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA CAGGCTGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA < 41bp 1 0.755116594811489 1 0.127392321825027 experiment 0.489766810377023 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859379 chr17:4859364 synonymous SNV . 0 6 hm5C_associated_SNPs_12081 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859379 + 4859359 4859399 41 CAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA CAGGCTGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA < 41bp 1 0.755116594811489 1 0.127392321825027 experiment 0.489766810377023 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859379 chr17:4859364 synonymous SNV . 0 6 hm5C_associated_SNPs_12081 2 Benign not specified RCV000425564.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859382 + 4859362 4859402 41 GCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT GCTGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT < 41bp 1 0.535579486433786 1 0.101447224617004 experiment 0.928841027132428 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859382 chr17:4859364 synonymous SNV . 0 3 hm5C_associated_SNPs_12082 2 Likely benign Glycogen storage disease type 13 RCV000295174.1
3875 chr17 4859364 4859364 1 + C T rs2230257 4859382 + 4859362 4859402 41 GCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT GCTGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT < 41bp 1 0.535579486433786 1 0.101447224617004 experiment 0.928841027132428 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859382 chr17:4859364 synonymous SNV . 0 3 hm5C_associated_SNPs_12082 2 Benign not specified RCV000425564.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859345 + 4859325 4859365 41 TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCG TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCA < 41bp 1 0.191190264117602 1 0.248302429914474 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859345 chr17:4859365 nonsynonymous SNV 0.997 0 41 hm5C_associated_SNPs_12083 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859345 + 4859325 4859365 41 TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCG TGACTTGACAGTCACCAACCCCAAGAGGATTGCCCAGGCCA < 41bp 1 0.191190264117602 1 0.248302429914474 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859345 chr17:4859365 nonsynonymous SNV 0.997 0 41 hm5C_associated_SNPs_12083 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859357 + 4859337 4859377 41 CACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGG CACCAACCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGG < 41bp 1 0.237399176792241 1 0.0590374171733856 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859357 chr17:4859365 nonsynonymous SNV 0.997 0 29 hm5C_associated_SNPs_12084 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859357 + 4859337 4859377 41 CACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGG CACCAACCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGG < 41bp 1 0.237399176792241 1 0.0590374171733856 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859357 chr17:4859365 nonsynonymous SNV 0.997 0 29 hm5C_associated_SNPs_12084 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859358 + 4859338 4859378 41 ACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGC ACCAACCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGC < 41bp 1 0.273082618266427 1 0.330487161874771 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859358 chr17:4859365 nonsynonymous SNV 0.997 0 28 hm5C_associated_SNPs_12085 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859358 + 4859338 4859378 41 ACCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGC ACCAACCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGC < 41bp 1 0.273082618266427 1 0.330487161874771 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859358 chr17:4859365 nonsynonymous SNV 0.997 0 28 hm5C_associated_SNPs_12085 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859359 + 4859339 4859379 41 CCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCC CCAACCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCC < 41bp 1 0.397884466065457 1 0.438932120800018 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859359 chr17:4859365 nonsynonymous SNV 0.997 0 27 hm5C_associated_SNPs_12086 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859359 + 4859339 4859379 41 CCAACCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCC CCAACCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCC < 41bp 1 0.397884466065457 1 0.438932120800018 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859359 chr17:4859365 nonsynonymous SNV 0.997 0 27 hm5C_associated_SNPs_12086 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859363 + 4859343 4859383 41 CCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCA CCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCCTGCA < 41bp 1 0.0991913214614416 1 0.0716718733310699 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859363 chr17:4859365 nonsynonymous SNV 0.997 0 23 hm5C_associated_SNPs_12087 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859363 + 4859343 4859383 41 CCCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCA CCCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCCTGCA < 41bp 1 0.0991913214614416 1 0.0716718733310699 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859363 chr17:4859365 nonsynonymous SNV 0.997 0 23 hm5C_associated_SNPs_12087 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859364 + 4859344 4859384 41 CCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAA CCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCCTGCAA < 41bp 1 0.220977662888377 1 0.131863296031952 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859364 chr17:4859365 nonsynonymous SNV 0.997 0 22 hm5C_associated_SNPs_12088 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859364 + 4859344 4859384 41 CCCAAGAGGATTGCCCAGGCCGTTGAGAAGAAGGCCTGCAA CCCAAGAGGATTGCCCAGGCCATTGAGAAGAAGGCCTGCAA < 41bp 1 0.220977662888377 1 0.131863296031952 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859364 chr17:4859365 nonsynonymous SNV 0.997 0 22 hm5C_associated_SNPs_12088 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859378 + 4859358 4859398 41 CCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA CCAGGCCATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA < 41bp 1 0.128329015730899 1 0.0538194179534912 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859378 chr17:4859365 nonsynonymous SNV 0.997 0 8 hm5C_associated_SNPs_12089 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859378 + 4859358 4859398 41 CCAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA CCAGGCCATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGA < 41bp 1 0.128329015730899 1 0.0538194179534912 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859378 chr17:4859365 nonsynonymous SNV 0.997 0 8 hm5C_associated_SNPs_12089 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859379 + 4859359 4859399 41 CAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA CAGGCCATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA < 41bp 1 0.756756068797074 1 0.113594084978104 experiment 0.486487862405851 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859379 chr17:4859365 nonsynonymous SNV 0.997 0 7 hm5C_associated_SNPs_12090 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859379 + 4859359 4859399 41 CAGGCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA CAGGCCATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAA < 41bp 1 0.756756068797074 1 0.113594084978104 experiment 0.486487862405851 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859379 chr17:4859365 nonsynonymous SNV 0.997 0 7 hm5C_associated_SNPs_12090 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859382 + 4859362 4859402 41 GCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT GCCATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT < 41bp 1 0.474435605684977 1 0.132857322692871 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859382 chr17:4859365 nonsynonymous SNV 0.997 0 4 hm5C_associated_SNPs_12091 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859382 + 4859362 4859402 41 GCCGTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT GCCATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGT < 41bp 1 0.474435605684977 1 0.132857322692871 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859382 chr17:4859365 nonsynonymous SNV 0.997 0 4 hm5C_associated_SNPs_12091 2 Benign not specified RCV000432505.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859385 + 4859365 4859405 41 GTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAA ATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAA < 41bp 1 0.4558105751811 1 0.0923383235931396 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859385 chr17:4859365 nonsynonymous SNV 0.997 0 1 hm5C_associated_SNPs_12092 2 Likely benign Glycogen storage disease type 13 RCV000331457.1
3875 chr17 4859365 4859365 1 + G A rs61735456 4859385 + 4859365 4859405 41 GTTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAA ATTGAGAAGAAGGCCTGCAACTGTCTGCTGCTGAAGGTCAA < 41bp 1 0.4558105751811 1 0.0923383235931396 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859385 chr17:4859365 nonsynonymous SNV 0.997 0 1 hm5C_associated_SNPs_12092 2 Benign not specified RCV000432505.1
3875 chr17 4859418 4859418 1 + G A rs527864393 4859403 + 4859383 4859423 41 AACTGTCTGCTGCTGAAGGTCAACCAGATCGGCTCGGTGAC AACTGTCTGCTGCTGAAGGTCAACCAGATCGGCTCAGTGAC < 41bp 1 0.403461215931372 1 0.238792032003403 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859403 chr17:4859418 synonymous SNV . 0 36 hm5C_associated_SNPs_12097 1 Uncertain significance Glycogen storage disease type 13 RCV000385726.1
3875 chr17 4859418 4859418 1 + G A rs527864393 4859423 + 4859403 4859443 41 CAACCAGATCGGCTCGGTGACCGAATCGATCCAGGCGTGAG CAACCAGATCGGCTCAGTGACCGAATCGATCCAGGCGTGAG < 41bp 1 0.519837916328788 1 0.117825120687485 experiment 0.960324167342425 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859423 chr17:4859418 synonymous SNV . 0 16 hm5C_associated_SNPs_12098 1 Uncertain significance Glycogen storage disease type 13 RCV000385726.1
3875 chr17 4859418 4859418 1 + G A rs527864393 4859424 + 4859404 4859444 41 AACCAGATCGGCTCGGTGACCGAATCGATCCAGGCGTGAGT AACCAGATCGGCTCAGTGACCGAATCGATCCAGGCGTGAGT < 41bp 1 0.386493772967423 1 0.720782399177551 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859424 chr17:4859418 synonymous SNV . 0 15 hm5C_associated_SNPs_12099 1 Uncertain significance Glycogen storage disease type 13 RCV000385726.1
3875 chr17 4923851 4923851 1 + G A rs78356534 4923870 + 4923850 4923890 41 TGGAACGGGAACGAGGGGTCCCCCCACCCCCAGGACCGCCC TAGAACGGGAACGAGGGGTCCCCCCACCCCCAGGACCGCCC < 41bp 1 0.119057585119261 1 0.10008242726326 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4923870 chr17:4923851 synonymous SNV . 0 2 hm5C_associated_SNPs_12104 1 Likely benign not specified RCV000442773.1
3875 chr17 4926860 4926860 1 + C A rs78970955 4926871 + 4926851 4926891 41 ACCGCATGCCGTCAGCCCGGCCCCCCTCGCCACCACTGTCA ACCGCATGCAGTCAGCCCGGCCCCCCTCGCCACCACTGTCA < 41bp 1 0.063015400054192 1 0.0317761301994324 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4926871 chr17:4926860 nonsynonymous SNV 0.002 1 10 hm5C_associated_SNPs_12105 1 Benign not specified RCV000419762.1
3875 chr17 4926860 4926860 1 + C A rs78970955 4926874 + 4926854 4926894 41 GCATGCCGTCAGCCCGGCCCCCCTCGCCACCACTGTCAAGC GCATGCAGTCAGCCCGGCCCCCCTCGCCACCACTGTCAAGC < 41bp 1 0.10179929919069 1 0.0194081366062164 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4926874 chr17:4926860 nonsynonymous SNV 0.002 1 7 hm5C_associated_SNPs_12106 1 Benign not specified RCV000419762.1
3875 chr17 4926860 4926860 1 + C A rs78970955 4926880 + 4926860 4926900 41 CGTCAGCCCGGCCCCCCTCGCCACCACTGTCAAGCTGGGAG AGTCAGCCCGGCCCCCCTCGCCACCACTGTCAAGCTGGGAG < 41bp 1 0.101183507081105 1 0.23059493303299 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4926880 chr17:4926860 nonsynonymous SNV 0.002 1 1 hm5C_associated_SNPs_12107 1 Benign not specified RCV000419762.1
3875 chr17 4926882 4926882 1 + A G rs346828 4926871 + 4926851 4926891 41 ACCGCATGCCGTCAGCCCGGCCCCCCTCGCCACCACTGTCA ACCGCATGCCGTCAGCCCGGCCCCCCTCGCCGCCACTGTCA < 41bp 1 0.0756128277492745 1 0.0296020209789276 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4926871 chr17:4926882 synonymous SNV . 0 32 hm5C_associated_SNPs_12108 1 Benign not specified RCV000419736.1
3875 chr17 4926882 4926882 1 + A G rs346828 4926874 + 4926854 4926894 41 GCATGCCGTCAGCCCGGCCCCCCTCGCCACCACTGTCAAGC GCATGCCGTCAGCCCGGCCCCCCTCGCCGCCACTGTCAAGC < 41bp 1 0.0922966504573643 1 0.04963019490242 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4926874 chr17:4926882 synonymous SNV . 0 29 hm5C_associated_SNPs_12109 1 Benign not specified RCV000419736.1
3875 chr17 4926882 4926882 1 + A G rs346828 4926880 + 4926860 4926900 41 CGTCAGCCCGGCCCCCCTCGCCACCACTGTCAAGCTGGGAG CGTCAGCCCGGCCCCCCTCGCCGCCACTGTCAAGCTGGGAG < 41bp 1 0.160904987535157 1 0.250459581613541 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4926880 chr17:4926882 synonymous SNV . 0 23 hm5C_associated_SNPs_12110 1 Benign not specified RCV000419736.1
3875 chr17 4926882 4926882 1 + A G rs346828 4926883 + 4926863 4926903 41 CAGCCCGGCCCCCCTCGCCACCACTGTCAAGCTGGGAGCGG CAGCCCGGCCCCCCTCGCCGCCACTGTCAAGCTGGGAGCGG < 41bp 1 0.135569272328369 1 0.0492443740367889 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4926883 chr17:4926882 synonymous SNV . 0 20 hm5C_associated_SNPs_12111 1 Benign not specified RCV000419736.1
3875 chr17 7491331 7491331 1 + C T rs545206972 7491330 + 7491310 7491350 41 CTGGGACTGTCTCCCGGACCCCAGTGCTGGGGTGGGGGAAG CTGGGACTGTCTCCCGGACCCTAGTGCTGGGGTGGGGGAAG < 41bp 1 0.75636866090094 1 0.237820476293564 experiment 0.487262678198119 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control MPDU1 ENSG00000129255 UTR3 Human protein_coding chr17:7491330 chr17:7491331 . . 0 22 hm5C_associated_SNPs_12181 1 Uncertain significance Congenital disorder of glycosylation RCV000337854.1
3875 chr17 7592168 7592168 1 + C G rs2287499 7592180 + 7592160 7592200 41 AGGAGCTACGGGAGGGGGACCCAGTTTCTCTCTCCACTCCC AGGAGCTAGGGGAGGGGGACCCAGTTTCTCTCTCCACTCCC < 41bp 1 0.450965750276779 1 0.426975667476654 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control WRAP53 ENSG00000141499 CDS Human protein_coding chr17:7592180 chr17:7592168 nonsynonymous SNV 0.000 0 9 hm5C_associated_SNPs_12182 3 Benign not specified RCV000253368.1
3875 chr17 7592168 7592168 1 + C G rs2287499 7592180 + 7592160 7592200 41 AGGAGCTACGGGAGGGGGACCCAGTTTCTCTCTCCACTCCC AGGAGCTAGGGGAGGGGGACCCAGTTTCTCTCTCCACTCCC < 41bp 1 0.450965750276779 1 0.426975667476654 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control WRAP53 ENSG00000141499 CDS Human protein_coding chr17:7592180 chr17:7592168 nonsynonymous SNV 0.000 0 9 hm5C_associated_SNPs_12182 3 Benign Dyskeratosis Congenita, Recessive RCV000278137.1
3875 chr17 7592168 7592168 1 + C G rs2287499 7592180 + 7592160 7592200 41 AGGAGCTACGGGAGGGGGACCCAGTTTCTCTCTCCACTCCC AGGAGCTAGGGGAGGGGGACCCAGTTTCTCTCTCCACTCCC < 41bp 1 0.450965750276779 1 0.426975667476654 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control WRAP53 ENSG00000141499 CDS Human protein_coding chr17:7592180 chr17:7592168 nonsynonymous SNV 0.000 0 9 hm5C_associated_SNPs_12182 3 Benign Li-Fraumeni syndrome RCV000354405.1
3875 chr17 14110901 14110901 1 + A G rs11078234 14110919 + 14110899 14110939 41 GCAGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGA GCGGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGA < 41bp 1 0.76448999150835 1 0.645110726356506 experiment 0.471020016983301 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14110919 chr17:14110901 . . 0 3 hm5C_associated_SNPs_12263 2 Benign Cytochrome-c oxidase deficiency RCV000310611.1
3875 chr17 14110901 14110901 1 + A G rs11078234 14110919 + 14110899 14110939 41 GCAGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGA GCGGAGTGGCACTTGGTGGCCAGAAAGTGTGAGCCTCATGA < 41bp 1 0.76448999150835 1 0.645110726356506 experiment 0.471020016983301 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14110919 chr17:14110901 . . 0 3 hm5C_associated_SNPs_12263 2 Benign Leigh syndrome RCV000389973.1
3875 chr17 14111854 14111854 1 + C T rs75636595 14111865 + 14111845 14111885 41 AAATCTTCCCTCTTGGCTGCCCCCAGGTATTTACTGTGGAG AAATCTTCCTTCTTGGCTGCCCCCAGGTATTTACTGTGGAG < 41bp 1 0.366994488593097 1 0.338195770978928 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14111865 chr17:14111854 . . 0 10 hm5C_associated_SNPs_12264 2 Likely benign Cytochrome-c oxidase deficiency RCV000288971.1
3875 chr17 14111854 14111854 1 + C T rs75636595 14111865 + 14111845 14111885 41 AAATCTTCCCTCTTGGCTGCCCCCAGGTATTTACTGTGGAG AAATCTTCCTTCTTGGCTGCCCCCAGGTATTTACTGTGGAG < 41bp 1 0.366994488593097 1 0.338195770978928 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14111865 chr17:14111854 . . 0 10 hm5C_associated_SNPs_12264 2 Likely benign Leigh syndrome RCV000381119.1
3875 chr17 15907568 15907568 1 + G A rs58517927 15907552 + 15907532 15907572 41 TGAAATTTCCCTAAAGCTGGCCAGTATCTATGCTGCGCAGA TGAAATTTCCCTAAAGCTGGCCAGTATCTATGCTGCACAGA < 41bp 1 0.123747155104089 1 0.0638697445392609 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control TTC19 ENSG00000011295 CDS Human protein_coding chr17:15907552 chr17:15907568 synonymous SNV . 0 37 hm5C_associated_SNPs_12269 2 Benign not specified RCV000125728.2
3875 chr17 15907568 15907568 1 + G A rs58517927 15907552 + 15907532 15907572 41 TGAAATTTCCCTAAAGCTGGCCAGTATCTATGCTGCGCAGA TGAAATTTCCCTAAAGCTGGCCAGTATCTATGCTGCACAGA < 41bp 1 0.123747155104089 1 0.0638697445392609 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control TTC19 ENSG00000011295 CDS Human protein_coding chr17:15907552 chr17:15907568 synonymous SNV . 0 37 hm5C_associated_SNPs_12269 2 Likely benign Mitochondrial complex III deficiency RCV000317077.1
3875 chr17 15931545 15931545 1 + T A rs11554356 15931565 + 15931545 15931585 41 TGAACACTCTACTTCCTTTGCAGCCTTAGTCACACAACTGA AGAACACTCTACTTCCTTTGCAGCCTTAGTCACACAACTGA < 41bp 1 0.507328762548138 1 0.0884763896465302 experiment 0.985342474903724 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control TTC19 ENSG00000011295 UTR3 Human protein_coding chr17:15931565 chr17:15931545 . . 0 1 hm5C_associated_SNPs_12271 1 Likely benign Mitochondrial complex III deficiency RCV000316310.1
3875 chr17 15931582 15931582 1 + C G rs143866104 15931565 + 15931545 15931585 41 TGAACACTCTACTTCCTTTGCAGCCTTAGTCACACAACTGA TGAACACTCTACTTCCTTTGCAGCCTTAGTCACACAAGTGA < 41bp 1 0.465918700099296 1 0.109746515750885 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control TTC19 ENSG00000011295 UTR3 Human protein_coding chr17:15931565 chr17:15931582 . . 0 38 hm5C_associated_SNPs_12272 1 Uncertain significance Mitochondrial complex III deficiency RCV000375460.1
3875 chr17 17697541 17697541 1 + C T rs34898721 17697528 + 17697508 17697548 41 CCCCTTCAGAAGGACAAGCTCCCTGAGAACCTGCTGTCGGA CCCCTTCAGAAGGACAAGCTCCCTGAGAACCTGTTGTCGGA < 41bp 1 0.123891527932277 1 0.0593386590480804 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control RAI1 ENSG00000108557 CDS Human protein_coding chr17:17697528 chr17:17697541 synonymous SNV . 0 34 hm5C_associated_SNPs_12287 1 Uncertain significance not specified RCV000193669.1
3875 chr17 18057167 18057167 1 + A T rs712270 18057159 + 18057139 18057179 41 CTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGA CTGCACCGCCTCATCAATCCCAACTTCTTCGGCTATCAGGA < 41bp 1 0.128043754242078 1 0.231480181217194 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control MYO15A ENSG00000091536 CDS Human protein_coding chr17:18057159 chr17:18057167 nonsynonymous SNV 0.994 3 29 hm5C_associated_SNPs_12293 2 Benign not specified RCV000214657.2
3875 chr17 18057167 18057167 1 + A T rs712270 18057159 + 18057139 18057179 41 CTGCACCGCCTCATCAATCCCAACTTCTACGGCTATCAGGA CTGCACCGCCTCATCAATCCCAACTTCTTCGGCTATCAGGA < 41bp 1 0.128043754242078 1 0.231480181217194 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control MYO15A ENSG00000091536 CDS Human protein_coding chr17:18057159 chr17:18057167 nonsynonymous SNV 0.994 3 29 hm5C_associated_SNPs_12293 2 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000317870.1
3875 chr17 18061142 18061142 1 + C T rs200926400 18061139 + 18061119 18061159 41 CAGCTGCCAACGGAGCCAGGCCGCGGCCGAGCAGCCGCCGT CAGCTGCCAACGGAGCCAGGCCGTGGCCGAGCAGCCGCCGT < 41bp 1 0.119709175723465 1 0.120968878269196 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient MYO15A ENSG00000091536 CDS Human protein_coding chr17:18061139 chr17:18061142 synonymous SNV . 0 24 hm5C_associated_SNPs_12294 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000354137.1
3875 chr17 26725024 26725024 1 + C T rs114008979 26725014 - 26724994 26725034 41 CCAAAGCATCGAGGCTGGCACTGGCCAAGACAGACTCTGGC CCAAAGCATCAAGGCTGGCACTGGCCAAGACAGACTCTGGC < 41bp 1 0.520078606590842 1 0.27054238319397 experiment 0.959842786818316 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control SARM1;SLC46A1 ENSG00000004139;ENSG00000076351 UTR3 Human other chr17:26725014 chr17:26725024 . . 0 11 hm5C_associated_SNPs_12346 1 Uncertain significance Congenital defect of folate absorption RCV000392934.1
3875 chr17 37864584 37864584 1 + A C rs61737968 37864579 + 37864559 37864599 41 GCTTCCCCCTCCCAGGATATCCAGGAGGTGCAGGGCTACGT GCTTCCCCCTCCCAGGATATCCAGGCGGTGCAGGGCTACGT < 41bp 1 0.420012877991733 1 0.713628172874451 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37864579 chr17:37864584 nonsynonymous SNV 1.000 4 26 hm5C_associated_SNPs_12429 1 not provided not specified RCV000120758.1
3875 chr17 40714721 40714721 1 + C T rs145723983 40714704 + 40714684 40714724 41 TGGCCTCCCTAGCCCCTCGCCTGGCCTCCATCCTGACCTCG TGGCCTCCCTAGCCCCTCGCCTGGCCTCCATCCTGACTTCG < 41bp 1 0.505556060267929 1 0.255551010370255 experiment 0.988887879464141 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control COASY ENSG00000068120 CDS Human protein_coding chr17:40714704 chr17:40714721 synonymous SNV . 0 38 hm5C_associated_SNPs_12465 1 Likely benign not specified RCV000431575.1
3875 chr17 40932955 40932955 1 + C A rs61754326 40932967 + 40932947 40932987 41 CTCACCCGCTCCGGACCCCCCCGATCCTCCGGACTCCGCTG CTCACCCGATCCGGACCCCCCCGATCCTCCGGACTCCGCTG < 41bp 1 0.279263043673228 1 0.292570233345032 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control WNK4 ENSG00000126562 CDS Human protein_coding chr17:40932967 chr17:40932955 nonsynonymous SNV 0.008 1 9 hm5C_associated_SNPs_12472 1 Benign Pseudohypoaldosteronism, type 2 RCV000371996.1
3875 chr17 46025299 46025299 1 + C T rs145323612 46025293 + 46025273 46025313 41 GCTGGGATTACAGACATGAGCCACCACGCTTGGCCGGGATA GCTGGGATTACAGACATGAGCCACCATGCTTGGCCGGGATA < 41bp 1 0.358260737587045 1 0.0738276243209839 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PNPO ENSG00000264019 ncRNA_exonic Human antisense chr17:46025293 chr17:46025299 . . 0 27 hm5C_associated_SNPs_12503 1 Uncertain significance Pyridoxal 5'-phosphate-dependent epilepsy RCV000368024.1
3875 chr17 66527460 66527460 1 + G A rs8082254 66527459 + 66527439 66527479 41 TCTTGGTTGTTAATTTAGAGCGTTTGGTTAAAGTATGTCCT TCTTGGTTGTTAATTTAGAGCATTTGGTTAAAGTATGTCCT < 41bp 1 0.0482442908721762 1 0.0642389357089996 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527459 chr17:66527460 . . 0 22 hm5C_associated_SNPs_12595 2 Benign Carney complex RCV000280621.1
3875 chr17 66527460 66527460 1 + G A rs8082254 66527459 + 66527439 66527479 41 TCTTGGTTGTTAATTTAGAGCGTTTGGTTAAAGTATGTCCT TCTTGGTTGTTAATTTAGAGCATTTGGTTAAAGTATGTCCT < 41bp 1 0.0482442908721762 1 0.0642389357089996 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527459 chr17:66527460 . . 0 22 hm5C_associated_SNPs_12595 2 Benign Acrodysostosis RCV000340323.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527817 + 66527797 66527837 41 CCTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTTCTC CCTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTCCTC < 41bp 1 0.0642365032873785 1 0.0381206572055817 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527817 chr17:66527834 . . 0 38 hm5C_associated_SNPs_12602 2 Benign Carney complex RCV000259768.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527817 + 66527797 66527837 41 CCTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTTCTC CCTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTCCTC < 41bp 1 0.0642365032873785 1 0.0381206572055817 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527817 chr17:66527834 . . 0 38 hm5C_associated_SNPs_12602 2 Benign Acrodysostosis RCV000319592.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527818 + 66527798 66527838 41 CTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTTCTCT CTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTCCTCT < 41bp 1 0.118660467085364 1 0.258398205041885 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527818 chr17:66527834 . . 0 37 hm5C_associated_SNPs_12603 2 Benign Carney complex RCV000259768.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527818 + 66527798 66527838 41 CTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTTCTCT CTGCTGAAAGTCCTGCTTTCCTATCTAGCATTTATTCCTCT < 41bp 1 0.118660467085364 1 0.258398205041885 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527818 chr17:66527834 . . 0 37 hm5C_associated_SNPs_12603 2 Benign Acrodysostosis RCV000319592.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527822 + 66527802 66527842 41 TGAAAGTCCTGCTTTCCTATCTAGCATTTATTTCTCTGGCA TGAAAGTCCTGCTTTCCTATCTAGCATTTATTCCTCTGGCA < 41bp 1 0.322419978841385 1 0.214265257120132 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527822 chr17:66527834 . . 0 33 hm5C_associated_SNPs_12604 2 Benign Carney complex RCV000259768.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527822 + 66527802 66527842 41 TGAAAGTCCTGCTTTCCTATCTAGCATTTATTTCTCTGGCA TGAAAGTCCTGCTTTCCTATCTAGCATTTATTCCTCTGGCA < 41bp 1 0.322419978841385 1 0.214265257120132 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527822 chr17:66527834 . . 0 33 hm5C_associated_SNPs_12604 2 Benign Acrodysostosis RCV000319592.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527826 + 66527806 66527846 41 AGTCCTGCTTTCCTATCTAGCATTTATTTCTCTGGCAAACT AGTCCTGCTTTCCTATCTAGCATTTATTCCTCTGGCAAACT < 41bp 1 0.053540750520773 1 0.0245177447795868 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527826 chr17:66527834 . . 0 29 hm5C_associated_SNPs_12605 2 Benign Carney complex RCV000259768.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527826 + 66527806 66527846 41 AGTCCTGCTTTCCTATCTAGCATTTATTTCTCTGGCAAACT AGTCCTGCTTTCCTATCTAGCATTTATTCCTCTGGCAAACT < 41bp 1 0.053540750520773 1 0.0245177447795868 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527826 chr17:66527834 . . 0 29 hm5C_associated_SNPs_12605 2 Benign Acrodysostosis RCV000319592.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527835 + 66527815 66527855 41 TTCCTATCTAGCATTTATTTCTCTGGCAAACTTTTCTTTCT TTCCTATCTAGCATTTATTCCTCTGGCAAACTTTTCTTTCT < 41bp 1 0.260061758527175 1 0.29530268907547 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527835 chr17:66527834 . . 0 20 hm5C_associated_SNPs_12606 2 Benign Carney complex RCV000259768.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527835 + 66527815 66527855 41 TTCCTATCTAGCATTTATTTCTCTGGCAAACTTTTCTTTCT TTCCTATCTAGCATTTATTCCTCTGGCAAACTTTTCTTTCT < 41bp 1 0.260061758527175 1 0.29530268907547 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527835 chr17:66527834 . . 0 20 hm5C_associated_SNPs_12606 2 Benign Acrodysostosis RCV000319592.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527837 + 66527817 66527857 41 CCTATCTAGCATTTATTTCTCTGGCAAACTTTTCTTTCTTT CCTATCTAGCATTTATTCCTCTGGCAAACTTTTCTTTCTTT < 41bp 1 0.384637624744771 1 0.744376182556152 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527837 chr17:66527834 . . 0 18 hm5C_associated_SNPs_12607 2 Benign Carney complex RCV000259768.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527837 + 66527817 66527857 41 CCTATCTAGCATTTATTTCTCTGGCAAACTTTTCTTTCTTT CCTATCTAGCATTTATTCCTCTGGCAAACTTTTCTTTCTTT < 41bp 1 0.384637624744771 1 0.744376182556152 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527837 chr17:66527834 . . 0 18 hm5C_associated_SNPs_12607 2 Benign Acrodysostosis RCV000319592.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527841 + 66527821 66527861 41 TCTAGCATTTATTTCTCTGGCAAACTTTTCTTTCTTTTCTT TCTAGCATTTATTCCTCTGGCAAACTTTTCTTTCTTTTCTT < 41bp 1 0.161435947819117 1 0.346236884593964 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527841 chr17:66527834 . . 0 14 hm5C_associated_SNPs_12608 2 Benign Carney complex RCV000259768.1
3875 chr17 66527834 66527834 1 + T C rs9925 66527841 + 66527821 66527861 41 TCTAGCATTTATTTCTCTGGCAAACTTTTCTTTCTTTTCTT TCTAGCATTTATTCCTCTGGCAAACTTTTCTTTCTTTTCTT < 41bp 1 0.161435947819117 1 0.346236884593964 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRKAR1A ENSG00000108946 UTR3 Human protein_coding chr17:66527841 chr17:66527834 . . 0 14 hm5C_associated_SNPs_12608 2 Benign Acrodysostosis RCV000319592.1
3875 chr17 73257986 73257986 1 + C T rs8075276 73257966 + 73257946 73257986 41 AGGGCAGTCCTTGTGGGGTCCTCGTGGCCAGCCAAGATGGC AGGGCAGTCCTTGTGGGGTCCTCGTGGCCAGCCAAGATGGT < 41bp 1 0.581305216931008 1 0.475688874721527 experiment 0.837389566137984 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MRPS7 ENSG00000125445 CDS Human protein_coding chr17:73257966 chr17:73257986 nonsynonymous SNV 0.857 0 41 hm5C_associated_SNPs_12644 1 Benign not specified RCV000421254.1
3875 chr17 73513677 73513677 1 + A C rs11559205 73513687 + 73513667 73513707 41 GCCACTGTCTATCCAGGAAGCTTACCAGCTGCTGCTGACCG GCCACTGTCTCTCCAGGAAGCTTACCAGCTGCTGCTGACCG < 41bp 1 0.0579450892287986 1 0.0181275904178619 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73513687 chr17:73513677 nonsynonymous SNV 0.995 2 11 hm5C_associated_SNPs_12645 2 Benign not specified RCV000147784.2
3875 chr17 73513677 73513677 1 + A C rs11559205 73513687 + 73513667 73513707 41 GCCACTGTCTATCCAGGAAGCTTACCAGCTGCTGCTGACCG GCCACTGTCTCTCCAGGAAGCTTACCAGCTGCTGCTGACCG < 41bp 1 0.0579450892287986 1 0.0181275904178619 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73513687 chr17:73513677 nonsynonymous SNV 0.995 2 11 hm5C_associated_SNPs_12645 2 Likely benign Pontoneocerebellar hypoplasia RCV000260242.1
3875 chr17 73517929 73517929 1 + G A rs200683263 73517921 + 73517901 73517941 41 GAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCT GAGTCAAGCCCCATGAAGGGCCCAGGGGACCCCTTTCAGCT < 41bp 1 0.204830806678733 1 0.393041253089905 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73517921 chr17:73517929 nonsynonymous SNV 0.001 0 29 hm5C_associated_SNPs_12647 1 Uncertain significance Pontoneocerebellar hypoplasia RCV000290502.1
3875 chr17 73517929 73517929 1 + G A rs200683263 73517922 + 73517902 73517942 41 AGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTT AGTCAAGCCCCATGAAGGGCCCAGGGGACCCCTTTCAGCTT < 41bp 1 0.471718397084032 1 0.495807349681854 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73517922 chr17:73517929 nonsynonymous SNV 0.001 0 28 hm5C_associated_SNPs_12648 1 Uncertain significance Pontoneocerebellar hypoplasia RCV000290502.1
3875 chr17 73517929 73517929 1 + G A rs200683263 73517933 + 73517913 73517953 41 ATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCT ATGAAGGGCCCAGGGGACCCCTTTCAGCTTCTGGGGTCCCT < 41bp 1 0.107861176182341 1 0.0786888003349304 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73517933 chr17:73517929 nonsynonymous SNV 0.001 0 17 hm5C_associated_SNPs_12649 1 Uncertain significance Pontoneocerebellar hypoplasia RCV000290502.1
3875 chr17 75494705 75494705 1 + A G rs2627223 75494704 + 75494684 75494724 41 AGCAGCGCCATGGCCAACGGCATGGAGGAGAAGGAGCCAGA AGCAGCGCCATGGCCAACGGCGTGGAGGAGAAGGAGCCAGA < 41bp 1 0.468062592343531 1 0.540229558944702 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SEPT9 ENSG00000184640 CDS Human protein_coding chr17:75494704 chr17:75494705 nonsynonymous SNV 0.063 0 22 hm5C_associated_SNPs_12701 1 Benign Hereditary Neuralgic Amyotrophy (HNA) RCV000343437.1
3875 chr17 75494947 75494947 1 + G A rs560243481 75494927 + 75494907 75494947 41 GTCAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGG GTCAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGA < 41bp 1 0.174802644049578 1 0.0875540971755981 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75494927 chr17:75494947 . . 0 41 hm5C_associated_SNPs_12702 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000287067.1
3875 chr17 75494947 75494947 1 + G A rs560243481 75494929 + 75494909 75494949 41 CAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCT CAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGACT < 41bp 1 0.261044649026047 1 0.339856088161469 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75494929 chr17:75494947 . . 0 39 hm5C_associated_SNPs_12703 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000287067.1
3875 chr17 75494947 75494947 1 + G A rs560243481 75494930 + 75494910 75494950 41 AGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCTG AGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGACTG < 41bp 1 0.578956792706098 1 0.614406287670135 experiment 0.842086414587804 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75494930 chr17:75494947 . . 0 38 hm5C_associated_SNPs_12704 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000287067.1
3875 chr17 75494947 75494947 1 + G A rs560243481 75494931 + 75494911 75494951 41 GTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCTGC GTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGACTGC < 41bp 1 0.498813433322474 1 0.616983771324158 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control|22344696;NO;bisulfite sequencing;HeLa;Control SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75494931 chr17:75494947 . . 0 37 hm5C_associated_SNPs_12705 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000287067.1
3875 chr17 75494947 75494947 1 + G A rs560243481 75494932 + 75494912 75494952 41 TGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCTGCA TGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGACTGCA < 41bp 1 0.774362974425651 1 0.921339869499207 experiment 0.451274051148699 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control|22344696;NO;bisulfite sequencing;HeLa;Control SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75494932 chr17:75494947 . . 0 36 hm5C_associated_SNPs_12706 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000287067.1
3875 chr17 78075606 78075606 1 + C T rs190152638 78075595 + 78075575 78075615 41 ACCTCGGTGACGCGAAGGACCCCGGCCACCTCTAGGTTCTC ACCTCGGTGACGCGAAGGACCCCGGCCACCTTTAGGTTCTC < 41bp 1 0.334582389705635 1 0.0532124042510986 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control GAA ENSG00000171298 UTR5 Human protein_coding chr17:78075595 chr17:78075606 . . 0 32 hm5C_associated_SNPs_12753 1 Likely benign not specified RCV000426206.1
3875 chr17 78078643 78078643 1 + C A rs146615896 78078646 + 78078626 78078666 41 CAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCC CAGTGCGACGTCCCCCCAAACAGCCGCTTCGATTGCGCCCC < 41bp 1 0.446609642504594 1 0.683048903942108 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078646 chr17:78078643 synonymous SNV . 0 18 hm5C_associated_SNPs_12755 1 other not specified RCV000338982.2
3875 chr17 78078656 78078656 1 + G A rs1800299 78078646 + 78078626 78078666 41 CAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCC CAGTGCGACGTCCCCCCCAACAGCCGCTTCAATTGCGCCCC < 41bp 1 0.372133896353815 1 0.693355560302734 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078646 chr17:78078656 nonsynonymous SNV 0.507 3 31 hm5C_associated_SNPs_12756 3 Benign Acid alpha-glucosidase, allele 2 RCV000004235.1
3875 chr17 78078656 78078656 1 + G A rs1800299 78078646 + 78078626 78078666 41 CAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCC CAGTGCGACGTCCCCCCCAACAGCCGCTTCAATTGCGCCCC < 41bp 1 0.372133896353815 1 0.693355560302734 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078646 chr17:78078656 nonsynonymous SNV 0.507 3 31 hm5C_associated_SNPs_12756 3 other not provided RCV000078177.5
3875 chr17 78078656 78078656 1 + G A rs1800299 78078646 + 78078626 78078666 41 CAGTGCGACGTCCCCCCCAACAGCCGCTTCGATTGCGCCCC CAGTGCGACGTCCCCCCCAACAGCCGCTTCAATTGCGCCCC < 41bp 1 0.372133896353815 1 0.693355560302734 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078646 chr17:78078656 nonsynonymous SNV 0.507 3 31 hm5C_associated_SNPs_12756 3 other not specified RCV000117106.3
3875 chr17 78078736 78078736 1 + G A rs574947353 78078746 + 78078726 78078766 41 AGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGC AGCAGGGGCTACAGGGAGCCCAGATGGGGCAGCCCTGGTGC < 41bp 1 0.678067049062398 1 0.849809169769287 experiment 0.643865901875204 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078746 chr17:78078736 synonymous SNV . 0 11 hm5C_associated_SNPs_12757 1 Likely benign not specified RCV000355526.1
3875 chr17 78078753 78078753 1 + G A rs138034915 78078746 + 78078726 78078766 41 AGCAGGGGCTGCAGGGAGCCCAGATGGGGCAGCCCTGGTGC AGCAGGGGCTGCAGGGAGCCCAGATGGAGCAGCCCTGGTGC < 41bp 1 0.677101641857912 1 0.880834937095642 experiment 0.645796716284176 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078746 chr17:78078753 nonsynonymous SNV 0.913 0 28 hm5C_associated_SNPs_12758 1 Likely benign not specified RCV000298334.1
3875 chr17 78078753 78078753 1 + G A rs138034915 78078760 + 78078740 78078780 41 GGAGCCCAGATGGGGCAGCCCTGGTGCTTCTTCCCACCCAG GGAGCCCAGATGGAGCAGCCCTGGTGCTTCTTCCCACCCAG < 41bp 1 0.686768741507105 1 0.390459775924683 experiment 0.62646251698579 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78078760 chr17:78078753 nonsynonymous SNV 0.913 0 14 hm5C_associated_SNPs_12759 1 Likely benign not specified RCV000298334.1
3875 chr17 78087041 78087041 1 + G A rs1800309 78087058 + 78087038 78087078 41 AGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCT AGCAAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCT < 41bp 1 0.654243173045477 1 0.332828342914581 experiment 0.691513653909045 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78087058 chr17:78087041 nonsynonymous SNV 0.911 1 4 hm5C_associated_SNPs_12760 3 Pathogenic Acid alpha-glucosidase, allele 4 RCV000004245.1
3875 chr17 78087041 78087041 1 + G A rs1800309 78087058 + 78087038 78087078 41 AGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCT AGCAAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCT < 41bp 1 0.654243173045477 1 0.332828342914581 experiment 0.691513653909045 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78087058 chr17:78087041 nonsynonymous SNV 0.911 1 4 hm5C_associated_SNPs_12760 3 other not specified RCV000078165.9
3875 chr17 78087041 78087041 1 + G A rs1800309 78087058 + 78087038 78087078 41 AGCGAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCT AGCAAGCCGGCCCAGCAGGCCATGAGGAAGGCCCTCACCCT < 41bp 1 0.654243173045477 1 0.332828342914581 experiment 0.691513653909045 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GAA ENSG00000171298 CDS Human protein_coding chr17:78087058 chr17:78087041 nonsynonymous SNV 0.911 1 4 hm5C_associated_SNPs_12760 3 Likely benign Glycogen storage disease, type II RCV000383641.1
3875 chr17 79671714 79671714 1 + T C rs11546280 79671721 + 79671701 79671741 41 GGGTGGTGTGATGTCTGGGGCTGTCCCTGCTGCAGCAGCCC GGGTGGTGTGATGCCTGGGGCTGTCCCTGCTGCAGCAGCCC < 41bp 1 0.110583062504823 1 0.0519255697727203 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control MRPL12 ENSG00000183048;ENSG00000262660;ENSG00000262814 CDS Human other chr17:79671721 chr17:79671714 nonsynonymous SNV 0.023 0 14 hm5C_associated_SNPs_12818 1 Benign not specified RCV000431255.1
3875 chr18 2656224 2656224 1 + C G rs139872818 2656205 + 2656185 2656225 41 GTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGCT GTCCGAGCTCGGGGACCGGCCTCTGCAGGTCGGGGAGCGGT < 41bp 1 0.480306826010291 1 0.770797848701477 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMCHD1 ENSG00000101596 CDS Human protein_coding chr18:2656205 chr18:2656224 synonymous SNV . 0 40 hm5C_associated_SNPs_12852 1 Uncertain significance not specified RCV000385524.1
3875 chr18 2667005 2667005 1 + T C rs7239096 2667024 + 2667004 2667044 41 ATGCCAGTGAAGGACAAAATCCTTTGCGTAAGTATCCCATT ACGCCAGTGAAGGACAAAATCCTTTGCGTAAGTATCCCATT < 41bp 1 0.0616845924451651 1 0.125531107187271 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control SMCHD1 ENSG00000101596 CDS Human protein_coding chr18:2667024 chr18:2667005 synonymous SNV . 0 2 hm5C_associated_SNPs_12853 1 Benign not specified RCV000246263.1
3875 chr18 3457606 3457606 1 + C T rs4468717 3457613 + 3457593 3457633 41 TAAGCCGTCATCCCCGGGATCAGTTTTGGCTCGTCCATCAG TAAGCCGTCATCCTCGGGATCAGTTTTGGCTCGTCCATCAG < 41bp 1 0.312028830287596 1 0.0570854544639587 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457613 chr18:3457606 nonsynonymous SNV 0.014 1 14 hm5C_associated_SNPs_12855 2 Benign not specified RCV000246246.1
3875 chr18 3457606 3457606 1 + C T rs4468717 3457613 + 3457593 3457633 41 TAAGCCGTCATCCCCGGGATCAGTTTTGGCTCGTCCATCAG TAAGCCGTCATCCTCGGGATCAGTTTTGGCTCGTCCATCAG < 41bp 1 0.312028830287596 1 0.0570854544639587 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457613 chr18:3457606 nonsynonymous SNV 0.014 1 14 hm5C_associated_SNPs_12855 2 Likely benign Holoprosencephaly RCV000293052.1
3875 chr18 3457606 3457606 1 + C T rs4468717 3457622 + 3457602 3457642 41 ATCCCCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC ATCCTCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC < 41bp 1 0.619741277990289 1 0.239834308624268 experiment 0.760517444019421 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457622 chr18:3457606 nonsynonymous SNV 0.014 1 5 hm5C_associated_SNPs_12856 2 Benign not specified RCV000246246.1
3875 chr18 3457606 3457606 1 + C T rs4468717 3457622 + 3457602 3457642 41 ATCCCCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC ATCCTCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC < 41bp 1 0.619741277990289 1 0.239834308624268 experiment 0.760517444019421 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457622 chr18:3457606 nonsynonymous SNV 0.014 1 5 hm5C_associated_SNPs_12856 2 Likely benign Holoprosencephaly RCV000293052.1
3875 chr18 3457608 3457608 1 + G A rs2229334 3457613 + 3457593 3457633 41 TAAGCCGTCATCCCCGGGATCAGTTTTGGCTCGTCCATCAG TAAGCCGTCATCCCCAGGATCAGTTTTGGCTCGTCCATCAG < 41bp 1 0.305421672571125 1 0.0299418568611145 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457613 chr18:3457608 synonymous SNV . 0 16 hm5C_associated_SNPs_12859 1 Likely benign Holoprosencephaly RCV000388779.1
3875 chr18 3457608 3457608 1 + G A rs2229334 3457622 + 3457602 3457642 41 ATCCCCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC ATCCCCAGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC < 41bp 1 0.654826912321309 1 0.150683224201202 experiment 0.690346175357383 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457622 chr18:3457608 synonymous SNV . 0 7 hm5C_associated_SNPs_12860 1 Likely benign Holoprosencephaly RCV000388779.1
3875 chr18 19751638 19751638 1 + C T rs387906815 19751626 + 19751606 19751646 41 CGGCTTCGTGCACTCTGCGGCCGCGGCGGCAGCAGCCGCGG CGGCTTCGTGCACTCTGCGGCCGCGGCGGCAGTAGCCGCGG < 41bp 1 0.543884787619276 1 0.471789300441742 experiment 0.912230424761448 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control GATA6 ENSG00000141448 CDS Human protein_coding chr18:19751626 chr18:19751638 nonsynonymous SNV 0.653 4 33 hm5C_associated_SNPs_12900 1 Pathogenic Atrioventricular septal defect 5 RCV000023130.3
3875 chr18 20513338 20513338 1 + G A rs7244973 20513350 + 20513330 20513370 41 CCGCCTCCGAGCCCGGCCGGCAGCCCCCGGCCTTAAAGCGC CCGCCTCCAAGCCCGGCCGGCAGCCCCCGGCCTTAAAGCGC < 41bp 1 0.462830607050694 1 0.22686043381691 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513350 chr18:20513338 . . 0 9 hm5C_associated_SNPs_12901 2 Likely benign Seckel syndrome RCV000292217.1
3875 chr18 20513338 20513338 1 + G A rs7244973 20513350 + 20513330 20513370 41 CCGCCTCCGAGCCCGGCCGGCAGCCCCCGGCCTTAAAGCGC CCGCCTCCAAGCCCGGCCGGCAGCCCCCGGCCTTAAAGCGC < 41bp 1 0.462830607050694 1 0.22686043381691 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513350 chr18:20513338 . . 0 9 hm5C_associated_SNPs_12901 2 Likely benign Microcephaly with mental retardation and digital anomalies RCV000386896.1
3875 chr18 20513376 20513376 1 + G A rs115479920 20513370 + 20513350 20513390 41 CAGCCCCCGGCCTTAAAGCGCGGGCTGTCCGGAGGGGTCGG CAGCCCCCGGCCTTAAAGCGCGGGCTATCCGGAGGGGTCGG < 41bp 1 0.715806096865894 1 0.714988112449646 experiment 0.568387806268213 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513370 chr18:20513376 . . 0 27 hm5C_associated_SNPs_12903 2 Uncertain significance Seckel syndrome RCV000305459.1
3875 chr18 20513376 20513376 1 + G A rs115479920 20513370 + 20513350 20513390 41 CAGCCCCCGGCCTTAAAGCGCGGGCTGTCCGGAGGGGTCGG CAGCCCCCGGCCTTAAAGCGCGGGCTATCCGGAGGGGTCGG < 41bp 1 0.715806096865894 1 0.714988112449646 experiment 0.568387806268213 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control MIR4741 ENSG00000264817 ncRNA_exonic Human other chr18:20513370 chr18:20513376 . . 0 27 hm5C_associated_SNPs_12903 2 Uncertain significance Microcephaly with mental retardation and digital anomalies RCV000341654.1
3875 chr18 20573434 20573434 1 + T C rs34780140 20573447 + 20573427 20573467 41 CCAAAGATTCCCCAGGGGAGCCCTGTTCACAGGAATGCATC CCAAAGACTCCCCAGGGGAGCCCTGTTCACAGGAATGCATC < 41bp 1 0.171082155211096 1 0.0348386764526367 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RBBP8 ENSG00000101773 CDS Human protein_coding chr18:20573447 chr18:20573434 synonymous SNV . 0 8 hm5C_associated_SNPs_12906 3 Likely benign not specified RCV000118132.1
3875 chr18 20573434 20573434 1 + T C rs34780140 20573447 + 20573427 20573467 41 CCAAAGATTCCCCAGGGGAGCCCTGTTCACAGGAATGCATC CCAAAGACTCCCCAGGGGAGCCCTGTTCACAGGAATGCATC < 41bp 1 0.171082155211096 1 0.0348386764526367 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RBBP8 ENSG00000101773 CDS Human protein_coding chr18:20573447 chr18:20573434 synonymous SNV . 0 8 hm5C_associated_SNPs_12906 3 Uncertain significance Seckel syndrome RCV000316071.1
3875 chr18 20573434 20573434 1 + T C rs34780140 20573447 + 20573427 20573467 41 CCAAAGATTCCCCAGGGGAGCCCTGTTCACAGGAATGCATC CCAAAGACTCCCCAGGGGAGCCCTGTTCACAGGAATGCATC < 41bp 1 0.171082155211096 1 0.0348386764526367 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RBBP8 ENSG00000101773 CDS Human protein_coding chr18:20573447 chr18:20573434 synonymous SNV . 0 8 hm5C_associated_SNPs_12906 3 Uncertain significance Microcephaly with mental retardation and digital anomalies RCV000357103.1
3875 chr18 21508192 21508192 1 + G A rs146634036 21508180 + 21508160 21508200 41 AATGATACTGTGGGAGTAACCAAAAAGTGCTCGGAAGACTG AATGATACTGTGGGAGTAACCAAAAAGTGCTCAGAAGACTG < 41bp 1 0.42401681514297 1 0.743930816650391 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control LAMA3 ENSG00000053747 CDS Human protein_coding chr18:21508180 chr18:21508192 synonymous SNV . 0 33 hm5C_associated_SNPs_12910 2 Uncertain significance Epidermolysis bullosa, junctional RCV000267846.1
3875 chr18 21508192 21508192 1 + G A rs146634036 21508180 + 21508160 21508200 41 AATGATACTGTGGGAGTAACCAAAAAGTGCTCGGAAGACTG AATGATACTGTGGGAGTAACCAAAAAGTGCTCAGAAGACTG < 41bp 1 0.42401681514297 1 0.743930816650391 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control LAMA3 ENSG00000053747 CDS Human protein_coding chr18:21508180 chr18:21508192 synonymous SNV . 0 33 hm5C_associated_SNPs_12910 2 Uncertain significance Laryngoonychocutaneous syndrome RCV000353042.1
3875 chr18 48581278 48581278 1 + A G rs145805120 48581284 + 48581264 48581304 41 GCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCC GCATCGACAGAGACGTACAGCACCCCAGCTCTGTTAGCCCC < 41bp 1 0.348553114620677 1 0.217484474182129 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48581284 chr18:48581278 synonymous SNV . 0 15 hm5C_associated_SNPs_12951 2 Likely benign not specified RCV000437773.1
3875 chr18 48581278 48581278 1 + A G rs145805120 48581284 + 48581264 48581304 41 GCATCGACAGAGACATACAGCACCCCAGCTCTGTTAGCCCC GCATCGACAGAGACGTACAGCACCCCAGCTCTGTTAGCCCC < 41bp 1 0.348553114620677 1 0.217484474182129 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48581284 chr18:48581278 synonymous SNV . 0 15 hm5C_associated_SNPs_12951 2 Likely benign Juvenile polyposis syndrome RCV000473784.1
3875 chr19 3119239 3119239 1 + C T rs4900 3119221 + 3119201 3119241 41 CAGAACCGGATGGAGGAGAGCAAAGCCCTGTTCCGGACCAT CAGAACCGGATGGAGGAGAGCAAAGCCCTGTTCCGGACTAT < 41bp 1 0.276784069337189 1 0.404965162277222 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control GNA11 ENSG00000088256 CDS Human protein_coding chr19:3119221 chr19:3119239 synonymous SNV . 0 39 hm5C_associated_SNPs_13139 1 Benign not specified RCV000245998.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626465 + 7626445 7626485 41 CTGAGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCT CTGAGGACCTCAACAGGGGTCACCCCCTCCCTCCCACCCCT < 41bp 1 0.392248991184231 1 0.0699202716350555 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626465 chr19:7626456 . . 0 12 hm5C_associated_SNPs_13228 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626467 + 7626447 7626487 41 GAGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGG GAGGACCTCAACAGGGGTCACCCCCTCCCTCCCACCCCTGG < 41bp 1 0.278347963693536 1 0.0767365396022797 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626467 chr19:7626456 . . 0 10 hm5C_associated_SNPs_13229 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626468 + 7626448 7626488 41 AGGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGA AGGACCTCAACAGGGGTCACCCCCTCCCTCCCACCCCTGGA < 41bp 1 0.180482571140545 1 0.0827329754829407 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626468 chr19:7626456 . . 0 9 hm5C_associated_SNPs_13230 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626469 + 7626449 7626489 41 GGACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGAC GGACCTCAACAGGGGTCACCCCCTCCCTCCCACCCCTGGAC < 41bp 1 0.10705820722741 1 0.234183758497238 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626469 chr19:7626456 . . 0 8 hm5C_associated_SNPs_13231 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626470 + 7626450 7626490 41 GACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACT GACCTCAACAGGGGTCACCCCCTCCCTCCCACCCCTGGACT < 41bp 1 0.0696652263829412 1 0.370857298374176 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626470 chr19:7626456 . . 0 7 hm5C_associated_SNPs_13232 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626471 + 7626451 7626491 41 ACCTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTG ACCTCAACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTG < 41bp 1 0.432188403314111 1 0.700345516204834 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626471 chr19:7626456 . . 0 6 hm5C_associated_SNPs_13233 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626473 + 7626453 7626493 41 CTCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGG CTCAACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGG < 41bp 1 0.1055462861284 1 0.549901723861694 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626473 chr19:7626456 . . 0 4 hm5C_associated_SNPs_13234 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7626456 7626456 1 + G A rs561526950 7626474 + 7626454 7626494 41 TCGACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGGC TCAACAGGGGTCACCCCCTCCCTCCCACCCCTGGACTGGGC < 41bp 1 0.079026846034375 1 0.404252171516418 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control PNPLA6 ENSG00000032444 UTR3 Human protein_coding chr19:7626474 chr19:7626456 . . 0 3 hm5C_associated_SNPs_13235 1 Uncertain significance Spastic Paraplegia, Recessive RCV000391681.1
3875 chr19 7712708 7712708 1 + G A rs28464386 7712710 + 7712690 7712730 41 GCCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAG GCCCTGACCCCTGGCCCCACCCCCTACCCCTCCCTTTCCAG < 41bp 1 0.328296787328973 1 0.18964084982872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control STXBP2 ENSG00000076944 UTR3 Human protein_coding chr19:7712710 chr19:7712708 . . 0 19 hm5C_associated_SNPs_13239 3 Benign not specified RCV000242223.1
3875 chr19 7712708 7712708 1 + G A rs28464386 7712710 + 7712690 7712730 41 GCCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAG GCCCTGACCCCTGGCCCCACCCCCTACCCCTCCCTTTCCAG < 41bp 1 0.328296787328973 1 0.18964084982872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control STXBP2 ENSG00000076944 UTR3 Human protein_coding chr19:7712710 chr19:7712708 . . 0 19 hm5C_associated_SNPs_13239 3 Likely benign Familial hemophagocytic lymphohistiocytosis RCV000261409.1
3875 chr19 7712708 7712708 1 + G A rs28464386 7712710 + 7712690 7712730 41 GCCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAG GCCCTGACCCCTGGCCCCACCCCCTACCCCTCCCTTTCCAG < 41bp 1 0.328296787328973 1 0.18964084982872 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control STXBP2 ENSG00000076944 UTR3 Human protein_coding chr19:7712710 chr19:7712708 . . 0 19 hm5C_associated_SNPs_13239 3 Benign not provided RCV000421472.1
3875 chr19 7712708 7712708 1 + G A rs28464386 7712711 + 7712691 7712731 41 CCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAGA CCCTGACCCCTGGCCCCACCCCCTACCCCTCCCTTTCCAGA < 41bp 1 0.339275082626802 1 0.122949033975601 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control STXBP2 ENSG00000076944 UTR3 Human protein_coding chr19:7712711 chr19:7712708 . . 0 18 hm5C_associated_SNPs_13240 3 Benign not specified RCV000242223.1
3875 chr19 7712708 7712708 1 + G A rs28464386 7712711 + 7712691 7712731 41 CCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAGA CCCTGACCCCTGGCCCCACCCCCTACCCCTCCCTTTCCAGA < 41bp 1 0.339275082626802 1 0.122949033975601 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control STXBP2 ENSG00000076944 UTR3 Human protein_coding chr19:7712711 chr19:7712708 . . 0 18 hm5C_associated_SNPs_13240 3 Likely benign Familial hemophagocytic lymphohistiocytosis RCV000261409.1
3875 chr19 7712708 7712708 1 + G A rs28464386 7712711 + 7712691 7712731 41 CCCTGACCCCTGGCCCCGCCCCCTACCCCTCCCTTTCCAGA CCCTGACCCCTGGCCCCACCCCCTACCCCTCCCTTTCCAGA < 41bp 1 0.339275082626802 1 0.122949033975601 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control STXBP2 ENSG00000076944 UTR3 Human protein_coding chr19:7712711 chr19:7712708 . . 0 18 hm5C_associated_SNPs_13240 3 Benign not provided RCV000421472.1
3875 chr19 10886512 10886512 1 + T C rs77702567 10886497 + 10886477 10886517 41 CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCAC CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCCGTCAC < 41bp 1 0.263093490905186 1 0.238194972276688 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10886497 chr19:10886512 synonymous SNV . 0 36 hm5C_associated_SNPs_13296 4 other not specified RCV000248467.2
3875 chr19 10886512 10886512 1 + T C rs77702567 10886497 + 10886477 10886517 41 CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCAC CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCCGTCAC < 41bp 1 0.263093490905186 1 0.238194972276688 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10886497 chr19:10886512 synonymous SNV . 0 36 hm5C_associated_SNPs_13296 4 Likely benign Centronuclear Myopathy, Dominant RCV000303666.1
3875 chr19 10886512 10886512 1 + T C rs77702567 10886497 + 10886477 10886517 41 CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCAC CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCCGTCAC < 41bp 1 0.263093490905186 1 0.238194972276688 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10886497 chr19:10886512 synonymous SNV . 0 36 hm5C_associated_SNPs_13296 4 Likely benign Charcot-Marie-Tooth, Intermediate RCV000358274.1
3875 chr19 10886512 10886512 1 + T C rs77702567 10886497 + 10886477 10886517 41 CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCTGTCAC CAGTTCATCAGCCGGGAGAGCAGCCTCATTCTGGCCGTCAC < 41bp 1 0.263093490905186 1 0.238194972276688 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10886497 chr19:10886512 synonymous SNV . 0 36 hm5C_associated_SNPs_13296 4 Benign DNM2-related intermediate Charcot-Marie-Tooth neuropathy RCV000464998.1
3875 chr19 10893736 10893736 1 + G A rs199976453 10893721 + 10893701 10893741 41 CTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTA CTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCAGCCTA < 41bp 1 0.172533653464937 1 0.0671450197696686 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10893721 chr19:10893736 synonymous SNV . 0 36 hm5C_associated_SNPs_13298 3 Likely benign not specified RCV000281869.2
3875 chr19 10893736 10893736 1 + G A rs199976453 10893721 + 10893701 10893741 41 CTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTA CTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCAGCCTA < 41bp 1 0.172533653464937 1 0.0671450197696686 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10893721 chr19:10893736 synonymous SNV . 0 36 hm5C_associated_SNPs_13298 3 Likely benign Centronuclear Myopathy, Dominant RCV000294080.1
3875 chr19 10893736 10893736 1 + G A rs199976453 10893721 + 10893701 10893741 41 CTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCGGCCTA CTGGCAGCTGAGAGGAAGTTCTTCCTCTCCCACCCAGCCTA < 41bp 1 0.172533653464937 1 0.0671450197696686 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10893721 chr19:10893736 synonymous SNV . 0 36 hm5C_associated_SNPs_13298 3 Likely benign Charcot-Marie-Tooth, Intermediate RCV000333450.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942310 + 10942290 10942330 41 AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCG AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCTGGGCCG < 41bp 1 0.518992506011914 1 0.536906242370605 experiment 0.962014987976172 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942310 chr19:10942324 . . 0 35 hm5C_associated_SNPs_13301 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000288132.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942310 + 10942290 10942330 41 AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCG AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCTGGGCCG < 41bp 1 0.518992506011914 1 0.536906242370605 experiment 0.962014987976172 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942310 chr19:10942324 . . 0 35 hm5C_associated_SNPs_13301 2 Likely benign Centronuclear Myopathy, Dominant RCV000406251.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942323 + 10942303 10942343 41 CTAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATT CTAGGCCCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATT < 41bp 1 0.686581578359733 1 0.776824176311493 experiment 0.626836843280535 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942323 chr19:10942324 . . 0 22 hm5C_associated_SNPs_13302 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000288132.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942323 + 10942303 10942343 41 CTAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATT CTAGGCCCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATT < 41bp 1 0.686581578359733 1 0.776824176311493 experiment 0.626836843280535 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942323 chr19:10942324 . . 0 22 hm5C_associated_SNPs_13302 2 Likely benign Centronuclear Myopathy, Dominant RCV000406251.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942328 + 10942308 10942348 41 CCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCT CCCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATTCCTCT < 41bp 1 0.290122731070668 1 0.115175575017929 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942328 chr19:10942324 . . 0 17 hm5C_associated_SNPs_13303 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000288132.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942328 + 10942308 10942348 41 CCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCT CCCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATTCCTCT < 41bp 1 0.290122731070668 1 0.115175575017929 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942328 chr19:10942324 . . 0 17 hm5C_associated_SNPs_13303 2 Likely benign Centronuclear Myopathy, Dominant RCV000406251.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942329 + 10942309 10942349 41 CCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCTC CCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATTCCTCTC < 41bp 1 0.466043862103207 1 0.451324433088303 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942329 chr19:10942324 . . 0 16 hm5C_associated_SNPs_13304 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000288132.1
3875 chr19 10942324 10942324 1 + C T rs185820576 10942329 + 10942309 10942349 41 CCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCTC CCGGAGCCGTTGGCCTGGGCCGGCCTTGCCCTATTCCTCTC < 41bp 1 0.466043862103207 1 0.451324433088303 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942329 chr19:10942324 . . 0 16 hm5C_associated_SNPs_13304 2 Likely benign Centronuclear Myopathy, Dominant RCV000406251.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942310 + 10942290 10942330 41 AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCG AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCA < 41bp 1 0.519951088510045 1 0.606823563575745 experiment 0.96009782297991 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942310 chr19:10942330 . . 0 41 hm5C_associated_SNPs_13305 2 Likely benign Centronuclear Myopathy, Dominant RCV000345396.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942310 + 10942290 10942330 41 AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCG AGAGGTGCCTTTGCTAGGCCCGGAGCCGTTGGCCCGGGCCA < 41bp 1 0.519951088510045 1 0.606823563575745 experiment 0.96009782297991 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942310 chr19:10942330 . . 0 41 hm5C_associated_SNPs_13305 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000394517.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942323 + 10942303 10942343 41 CTAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATT CTAGGCCCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATT < 41bp 1 0.503416024436849 1 0.896642208099365 experiment 0.993167951126303 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942323 chr19:10942330 . . 0 28 hm5C_associated_SNPs_13306 2 Likely benign Centronuclear Myopathy, Dominant RCV000345396.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942323 + 10942303 10942343 41 CTAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATT CTAGGCCCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATT < 41bp 1 0.503416024436849 1 0.896642208099365 experiment 0.993167951126303 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942323 chr19:10942330 . . 0 28 hm5C_associated_SNPs_13306 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000394517.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942324 + 10942304 10942344 41 TAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTC TAGGCCCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATTC < 41bp 1 0.561114284756012 1 0.874695301055908 experiment 0.877771430487977 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942324 chr19:10942330 . . 0 27 hm5C_associated_SNPs_13307 2 Likely benign Centronuclear Myopathy, Dominant RCV000345396.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942324 + 10942304 10942344 41 TAGGCCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTC TAGGCCCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATTC < 41bp 1 0.561114284756012 1 0.874695301055908 experiment 0.877771430487977 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942324 chr19:10942330 . . 0 27 hm5C_associated_SNPs_13307 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000394517.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942328 + 10942308 10942348 41 CCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCT CCCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATTCCTCT < 41bp 1 0.16895432300509 1 0.0640980899333954 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942328 chr19:10942330 . . 0 23 hm5C_associated_SNPs_13308 2 Likely benign Centronuclear Myopathy, Dominant RCV000345396.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942328 + 10942308 10942348 41 CCCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCT CCCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATTCCTCT < 41bp 1 0.16895432300509 1 0.0640980899333954 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942328 chr19:10942330 . . 0 23 hm5C_associated_SNPs_13308 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000394517.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942329 + 10942309 10942349 41 CCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCTC CCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATTCCTCTC < 41bp 1 0.402005269291904 1 0.166435569524765 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942329 chr19:10942330 . . 0 22 hm5C_associated_SNPs_13309 2 Likely benign Centronuclear Myopathy, Dominant RCV000345396.1
3875 chr19 10942330 10942330 1 + G A rs117954916 10942329 + 10942309 10942349 41 CCGGAGCCGTTGGCCCGGGCCGGCCTTGCCCTATTCCTCTC CCGGAGCCGTTGGCCCGGGCCAGCCTTGCCCTATTCCTCTC < 41bp 1 0.402005269291904 1 0.166435569524765 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control DNM2 ENSG00000079805 UTR3 Human protein_coding chr19:10942329 chr19:10942330 . . 0 22 hm5C_associated_SNPs_13309 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000394517.1
3875 chr19 11105593 11105593 1 + A G rs17001075 11105582 + 11105562 11105602 41 TCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACG TCACAGGCAAAATCCAGAAGCTGACCAAGGCGGTGGCCACG < 41bp 1 0.153568184037677 1 0.149001628160477 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11105582 chr19:11105593 synonymous SNV . 0 32 hm5C_associated_SNPs_13327 3 Likely benign not specified RCV000114301.3
3875 chr19 11105593 11105593 1 + A G rs17001075 11105582 + 11105562 11105602 41 TCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACG TCACAGGCAAAATCCAGAAGCTGACCAAGGCGGTGGCCACG < 41bp 1 0.153568184037677 1 0.149001628160477 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11105582 chr19:11105593 synonymous SNV . 0 32 hm5C_associated_SNPs_13327 3 Benign Coffin-Siris syndrome RCV000383885.1
3875 chr19 11105593 11105593 1 + A G rs17001075 11105582 + 11105562 11105602 41 TCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACG TCACAGGCAAAATCCAGAAGCTGACCAAGGCGGTGGCCACG < 41bp 1 0.153568184037677 1 0.149001628160477 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11105582 chr19:11105593 synonymous SNV . 0 32 hm5C_associated_SNPs_13327 3 Benign Rhabdoid tumor predisposition syndrome 2 RCV000465143.1
3875 chr19 11105608 11105608 1 + T C rs7935 11105627 + 11105607 11105647 41 ATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGG ACGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGG < 41bp 1 0.660867964669002 1 0.659475326538086 experiment 0.678264070661996 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11105627 chr19:11105608 synonymous SNV . 0 2 hm5C_associated_SNPs_13328 2 Benign not specified RCV000114302.3
3875 chr19 11105608 11105608 1 + T C rs7935 11105627 + 11105607 11105647 41 ATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGG ACGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGG < 41bp 1 0.660867964669002 1 0.659475326538086 experiment 0.678264070661996 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11105627 chr19:11105608 synonymous SNV . 0 2 hm5C_associated_SNPs_13328 2 Benign Coffin-Siris syndrome RCV000264120.1
3875 chr19 11123738 11123738 1 + C T rs28997580 11123747 + 11123727 11123767 41 ATCACGTACCTCATGGAGCACAAACGCATCAATGGGCCCTT ATCACGTACCTTATGGAGCACAAACGCATCAATGGGCCCTT < 41bp 1 0.143761652454941 1 0.0921593904495239 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11123747 chr19:11123738 synonymous SNV . 0 12 hm5C_associated_SNPs_13329 3 Benign Rhabdoid tumor predisposition syndrome 2 RCV000206382.2
3875 chr19 11123738 11123738 1 + C T rs28997580 11123747 + 11123727 11123767 41 ATCACGTACCTCATGGAGCACAAACGCATCAATGGGCCCTT ATCACGTACCTTATGGAGCACAAACGCATCAATGGGCCCTT < 41bp 1 0.143761652454941 1 0.0921593904495239 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11123747 chr19:11123738 synonymous SNV . 0 12 hm5C_associated_SNPs_13329 3 Benign Coffin-Siris syndrome RCV000395804.1
3875 chr19 11123738 11123738 1 + C T rs28997580 11123747 + 11123727 11123767 41 ATCACGTACCTCATGGAGCACAAACGCATCAATGGGCCCTT ATCACGTACCTTATGGAGCACAAACGCATCAATGGGCCCTT < 41bp 1 0.143761652454941 1 0.0921593904495239 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11123747 chr19:11123738 synonymous SNV . 0 12 hm5C_associated_SNPs_13329 3 Benign not specified RCV000423450.1
3875 chr19 11145691 11145691 1 + C T rs28997582 11145672 + 11145652 11145692 41 GGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACG GGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGATG < 41bp 1 0.617362234420734 1 0.540599822998047 experiment 0.765275531158532 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145672 chr19:11145691 synonymous SNV . 0 40 hm5C_associated_SNPs_13332 2 Benign not specified RCV000114305.3
3875 chr19 11145691 11145691 1 + C T rs28997582 11145672 + 11145652 11145692 41 GGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACG GGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGATG < 41bp 1 0.617362234420734 1 0.540599822998047 experiment 0.765275531158532 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145672 chr19:11145691 synonymous SNV . 0 40 hm5C_associated_SNPs_13332 2 Benign Coffin-Siris syndrome RCV000343711.1
3875 chr19 11145691 11145691 1 + C T rs28997582 11145704 + 11145684 11145724 41 AGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAG AGGACGATGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAG < 41bp 1 0.502773936541823 1 0.522314071655273 experiment 0.994452126916354 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145704 chr19:11145691 synonymous SNV . 0 8 hm5C_associated_SNPs_13333 2 Benign not specified RCV000114305.3
3875 chr19 11145691 11145691 1 + C T rs28997582 11145704 + 11145684 11145724 41 AGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAG AGGACGATGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAG < 41bp 1 0.502773936541823 1 0.522314071655273 experiment 0.994452126916354 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145704 chr19:11145691 synonymous SNV . 0 8 hm5C_associated_SNPs_13333 2 Benign Coffin-Siris syndrome RCV000343711.1
3875 chr19 11145691 11145691 1 + C T rs28997582 11145707 + 11145687 11145727 41 ACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG ACGATGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG < 41bp 1 0.227121125874893 1 0.438113957643509 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145707 chr19:11145691 synonymous SNV . 0 5 hm5C_associated_SNPs_13334 2 Benign not specified RCV000114305.3
3875 chr19 11145691 11145691 1 + C T rs28997582 11145707 + 11145687 11145727 41 ACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG ACGATGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG < 41bp 1 0.227121125874893 1 0.438113957643509 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145707 chr19:11145691 synonymous SNV . 0 5 hm5C_associated_SNPs_13334 2 Benign Coffin-Siris syndrome RCV000343711.1
3875 chr19 11242005 11242005 1 + A G rs72658871 11242009 + 11241989 11242029 41 GTGAACATCTGCCTGGAGTCCCGTCCCTGCCCAGAACCCTT GTGAACATCTGCCTGGGGTCCCGTCCCTGCCCAGAACCCTT < 41bp 1 0.0799558796173325 1 0.229893982410431 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LDLR ENSG00000130164 CDS Human protein_coding chr19:11242009 chr19:11242005 synonymous SNV . 0 17 hm5C_associated_SNPs_13335 1 other Familial hypercholesterolemia RCV000256329.1
3875 chr19 11553281 11553281 1 + T C rs62638749 11553280 + 11553260 11553300 41 GCGGACAGTGAAGGAGGAAGCTGAGAAGCCAGAGAGAGAGG GCGGACAGTGAAGGAGGAAGCCGAGAAGCCAGAGAGAGAGG < 41bp 1 0.494311556746963 1 0.514611899852753 experiment 1 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11553280 chr19:11553281 synonymous SNV . 0 22 hm5C_associated_SNPs_13338 2 Benign not specified RCV000247188.1
3875 chr19 11553281 11553281 1 + T C rs62638749 11553280 + 11553260 11553300 41 GCGGACAGTGAAGGAGGAAGCTGAGAAGCCAGAGAGAGAGG GCGGACAGTGAAGGAGGAAGCCGAGAAGCCAGAGAGAGAGG < 41bp 1 0.494311556746963 1 0.514611899852753 experiment 1 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11553280 chr19:11553281 synonymous SNV . 0 22 hm5C_associated_SNPs_13338 2 Likely benign Polycystic liver disease RCV000358494.1
3875 chr19 11553281 11553281 1 + T C rs62638749 11553288 + 11553268 11553308 41 TGAAGGAGGAAGCTGAGAAGCCAGAGAGAGAGGCCAAAGAG TGAAGGAGGAAGCCGAGAAGCCAGAGAGAGAGGCCAAAGAG < 41bp 1 0.778605148198907 1 0.361094295978546 experiment 0.442789703602187 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11553288 chr19:11553281 synonymous SNV . 0 14 hm5C_associated_SNPs_13339 2 Benign not specified RCV000247188.1
3875 chr19 11553281 11553281 1 + T C rs62638749 11553288 + 11553268 11553308 41 TGAAGGAGGAAGCTGAGAAGCCAGAGAGAGAGGCCAAAGAG TGAAGGAGGAAGCCGAGAAGCCAGAGAGAGAGGCCAAAGAG < 41bp 1 0.778605148198907 1 0.361094295978546 experiment 0.442789703602187 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11553288 chr19:11553281 synonymous SNV . 0 14 hm5C_associated_SNPs_13339 2 Likely benign Polycystic liver disease RCV000358494.1
3875 chr19 11553281 11553281 1 + T C rs62638749 11553289 + 11553269 11553309 41 GAAGGAGGAAGCTGAGAAGCCAGAGAGAGAGGCCAAAGAGC GAAGGAGGAAGCCGAGAAGCCAGAGAGAGAGGCCAAAGAGC < 41bp 1 0.655672164622149 1 0.765582799911499 experiment 0.688655670755703 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11553289 chr19:11553281 synonymous SNV . 0 13 hm5C_associated_SNPs_13340 2 Benign not specified RCV000247188.1
3875 chr19 11553281 11553281 1 + T C rs62638749 11553289 + 11553269 11553309 41 GAAGGAGGAAGCTGAGAAGCCAGAGAGAGAGGCCAAAGAGC GAAGGAGGAAGCCGAGAAGCCAGAGAGAGAGGCCAAAGAGC < 41bp 1 0.655672164622149 1 0.765582799911499 experiment 0.688655670755703 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11553289 chr19:11553281 synonymous SNV . 0 13 hm5C_associated_SNPs_13340 2 Likely benign Polycystic liver disease RCV000358494.1
3875 chr19 11559907 11559907 1 + A G rs34351170 11559894 + 11559874 11559914 41 CCCTGTGTCTCTCACAGCACCTGGGGCTCATGGATTGGCCC CCCTGTGTCTCTCACAGCACCTGGGGCTCATGGGTTGGCCC < 41bp 1 0.773682118776008 1 0.734150290489197 experiment 0.452635762447985 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11559894 chr19:11559907 nonsynonymous SNV 0.957 1 34 hm5C_associated_SNPs_13341 2 Benign not specified RCV000247452.1
3875 chr19 11559907 11559907 1 + A G rs34351170 11559894 + 11559874 11559914 41 CCCTGTGTCTCTCACAGCACCTGGGGCTCATGGATTGGCCC CCCTGTGTCTCTCACAGCACCTGGGGCTCATGGGTTGGCCC < 41bp 1 0.773682118776008 1 0.734150290489197 experiment 0.452635762447985 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11559894 chr19:11559907 nonsynonymous SNV 0.957 1 34 hm5C_associated_SNPs_13341 2 Likely benign Polycystic liver disease RCV000273651.1
3875 chr19 13010520 13010520 1 + A G rs8012 13010519 + 13010499 13010539 41 ATTTCCCTTCTGAAGTCGTTCAGATGTGTTCCTTAAAAAGA ATTTCCCTTCTGAAGTCGTTCGGATGTGTTCCTTAAAAAGA < 41bp 1 0.409785217854589 1 0.405917853116989 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control GCDH ENSG00000105607 CDS Human protein_coding chr19:13010519 chr19:13010520 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_13353 2 Likely pathogenic Glutaric aciduria, type 1 RCV000190518.1
3875 chr19 13010520 13010520 1 + A G rs8012 13010519 + 13010499 13010539 41 ATTTCCCTTCTGAAGTCGTTCAGATGTGTTCCTTAAAAAGA ATTTCCCTTCTGAAGTCGTTCGGATGTGTTCCTTAAAAAGA < 41bp 1 0.409785217854589 1 0.405917853116989 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control GCDH ENSG00000105607 CDS Human protein_coding chr19:13010519 chr19:13010520 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_13353 2 Benign Glutaric acidemia RCV000281284.1
3875 chr19 14030642 14030642 1 + A G rs191830054 14030636 + 14030616 14030656 41 CGACTGGCCACCCAGGCTTCCCCCCAATCCAGGGCCTGGAG CGACTGGCCACCCAGGCTTCCCCCCAGTCCAGGGCCTGGAG < 41bp 1 0.0646634996910628 1 0.0391837656497955 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CC2D1A ENSG00000132024 CDS Human protein_coding chr19:14030636 chr19:14030642 nonsynonymous SNV 0.973 2 27 hm5C_associated_SNPs_13394 2 Uncertain significance not specified RCV000194140.1
3875 chr19 14030642 14030642 1 + A G rs191830054 14030636 + 14030616 14030656 41 CGACTGGCCACCCAGGCTTCCCCCCAATCCAGGGCCTGGAG CGACTGGCCACCCAGGCTTCCCCCCAGTCCAGGGCCTGGAG < 41bp 1 0.0646634996910628 1 0.0391837656497955 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CC2D1A ENSG00000132024 CDS Human protein_coding chr19:14030636 chr19:14030642 nonsynonymous SNV 0.973 2 27 hm5C_associated_SNPs_13394 2 Likely benign not provided RCV000434443.1
3875 chr19 14037648 14037648 1 + A G rs73925404 14037657 + 14037637 14037677 41 GAAGCTCAGAAAGACAAGACCAGTGTGATCAAGAACACAGA GAAGCTCAGAAGGACAAGACCAGTGTGATCAAGAACACAGA < 41bp 1 0.297525917096853 1 0.122420847415924 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control CC2D1A ENSG00000132024 CDS Human protein_coding chr19:14037657 chr19:14037648 synonymous SNV . 0 12 hm5C_associated_SNPs_13395 1 Benign not specified RCV000502449.1
3875 chr19 14675889 14675889 1 + C T rs59273619 14675880 + 14675860 14675900 41 ATCCTGCTTCTCTGACAGATCTGCCAGCTCGGCAACTTCTC ATCCTGCTTCTCTGACAGATCTGCCAGCTTGGCAACTTCTC < 41bp 1 0.489369834854654 1 0.265589833259583 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control TECR ENSG00000099797 CDS Human protein_coding chr19:14675880 chr19:14675889 synonymous SNV . 0 30 hm5C_associated_SNPs_13406 1 Likely benign not specified RCV000118622.2
3875 chr19 15662372 15662372 1 + C A rs76748339 15662363 + 15662343 15662383 41 CGCCCCAAAGATCCCGAGGGCATAGGCCACCCCCCTCGAAG CGCCCCAAAGATCCCGAGGGCATAGGCCAACCCCCTCGAAG < 41bp 1 0.40819781081139 1 0.208744078874588 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control CYP4F22 ENSG00000171954 UTR3 Human protein_coding chr19:15662363 chr19:15662372 . . 0 30 hm5C_associated_SNPs_13409 1 Uncertain significance Congenital ichthyosiform erythroderma RCV000393567.1
3875 chr19 34868642 34868642 1 + A G rs1801015 34868643 + 34868623 34868663 41 GCTATGTCTCCCCGCAGGGACCCCTCATGGTGACTGAAGCC GCTATGTCTCCCCGCAGGGGCCCCTCATGGTGACTGAAGCC < 41bp 1 0.0692805902265842 1 0.0913734138011932 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control GPI ENSG00000105220 CDS Human protein_coding chr19:34868643 chr19:34868642 synonymous SNV . 0 20 hm5C_associated_SNPs_13575 1 Benign not specified RCV000244239.1
3875 chr19 34868642 34868642 1 + A G rs1801015 34868644 + 34868624 34868664 41 CTATGTCTCCCCGCAGGGACCCCTCATGGTGACTGAAGCCC CTATGTCTCCCCGCAGGGGCCCCTCATGGTGACTGAAGCCC < 41bp 1 0.0341949408758276 1 0.0517958700656891 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control GPI ENSG00000105220 CDS Human protein_coding chr19:34868644 chr19:34868642 synonymous SNV . 0 19 hm5C_associated_SNPs_13576 1 Benign not specified RCV000244239.1
3875 chr19 34868642 34868642 1 + A G rs1801015 34868645 + 34868625 34868665 41 TATGTCTCCCCGCAGGGACCCCTCATGGTGACTGAAGCCCT TATGTCTCCCCGCAGGGGCCCCTCATGGTGACTGAAGCCCT < 41bp 1 0.105440405164696 1 0.181873351335526 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control GPI ENSG00000105220 CDS Human protein_coding chr19:34868645 chr19:34868642 synonymous SNV . 0 18 hm5C_associated_SNPs_13577 1 Benign not specified RCV000244239.1
3875 chr19 34868776 34868776 1 + T C rs8191371 34868761 + 34868741 34868781 41 GGCCCAGCTGAACCCCGAGTCCTCCCTGTTCATCATTGCCT GGCCCAGCTGAACCCCGAGTCCTCCCTGTTCATCACTGCCT < 41bp 1 0.0396543806095054 1 0.040453314781189 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control GPI ENSG00000105220 CDS Human protein_coding chr19:34868761 chr19:34868776 nonsynonymous SNV 0.519 5 36 hm5C_associated_SNPs_13578 1 Likely benign not specified RCV000455906.1
3875 chr19 35773534 35773534 1 + C T rs145846674 35773554 + 35773534 35773574 41 CGCCAGCCTGACCAGTGGCTCTGTTTTCCCACAACAGGTGA TGCCAGCCTGACCAGTGGCTCTGTTTTCCCACAACAGGTGA < 41bp 1 0.365300790822522 1 0.113521546125412 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control HAMP ENSG00000105697 CDS Human protein_coding chr19:35773554 chr19:35773534 synonymous SNV . 0 1 hm5C_associated_SNPs_13620 1 Likely benign Hemochromatosis type 1 RCV000196584.1
3875 chr19 36142187 36142187 1 + C T rs7991 36142189 + 36142169 36142209 41 AATCAAGAACTACAAGACCGCCCCTTTTGACAGCCGCTTCC AATCAAGAACTACAAGACTGCCCCTTTTGACAGCCGCTTCC < 41bp 1 0.290548172341959 1 0.0407769680023193 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control COX6B1 ENSG00000126267 CDS Human protein_coding chr19:36142189 chr19:36142187 nonsynonymous SNV . 0 19 hm5C_associated_SNPs_13630 2 Benign not specified RCV000124587.1
3875 chr19 36142187 36142187 1 + C T rs7991 36142189 + 36142169 36142209 41 AATCAAGAACTACAAGACCGCCCCTTTTGACAGCCGCTTCC AATCAAGAACTACAAGACTGCCCCTTTTGACAGCCGCTTCC < 41bp 1 0.290548172341959 1 0.0407769680023193 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control COX6B1 ENSG00000126267 CDS Human protein_coding chr19:36142189 chr19:36142187 nonsynonymous SNV . 0 19 hm5C_associated_SNPs_13630 2 Likely benign Cytochrome-c oxidase deficiency RCV000272774.1
3875 chr19 36572460 36572460 1 + C T rs148667984 36572466 + 36572446 36572486 41 CACTGGCAGAAAAACATCTTCAGCAATGTGAGTGGCTTCCT CACTGGCAGAAAAATATCTTCAGCAATGTGAGTGGCTTCCT < 41bp 1 0.524171833097201 1 0.266712486743927 experiment 0.951656333805599 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control WDR62 ENSG00000075702 CDS Human protein_coding chr19:36572466 chr19:36572460 synonymous SNV . 0 15 hm5C_associated_SNPs_13640 2 Uncertain significance not specified RCV000193171.1
3875 chr19 36572460 36572460 1 + C T rs148667984 36572466 + 36572446 36572486 41 CACTGGCAGAAAAACATCTTCAGCAATGTGAGTGGCTTCCT CACTGGCAGAAAAATATCTTCAGCAATGTGAGTGGCTTCCT < 41bp 1 0.524171833097201 1 0.266712486743927 experiment 0.951656333805599 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control WDR62 ENSG00000075702 CDS Human protein_coding chr19:36572466 chr19:36572460 synonymous SNV . 0 15 hm5C_associated_SNPs_13640 2 Uncertain significance Primary Microcephaly 2 With or Without Cortical Malformations RCV000404359.1
3875 chr19 36593915 36593915 1 + T G rs61741470 36593911 + 36593891 36593931 41 TGAAGTCTCCAGAGGTCAAGCTCATGGACCGAGGCGGAAGC TGAAGTCTCCAGAGGTCAAGCTCAGGGACCGAGGCGGAAGC < 41bp 1 0.491350524127261 1 0.468126326799393 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control WDR62 ENSG00000075702 CDS Human protein_coding chr19:36593911 chr19:36593915 nonsynonymous SNV 0.000 0 25 hm5C_associated_SNPs_13641 2 Benign not specified RCV000147955.2
3875 chr19 36593915 36593915 1 + T G rs61741470 36593911 + 36593891 36593931 41 TGAAGTCTCCAGAGGTCAAGCTCATGGACCGAGGCGGAAGC TGAAGTCTCCAGAGGTCAAGCTCAGGGACCGAGGCGGAAGC < 41bp 1 0.491350524127261 1 0.468126326799393 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control WDR62 ENSG00000075702 CDS Human protein_coding chr19:36593911 chr19:36593915 nonsynonymous SNV 0.000 0 25 hm5C_associated_SNPs_13641 2 Likely benign Primary Microcephaly 2 With or Without Cortical Malformations RCV000317818.1
3875 chr19 36593915 36593915 1 + T G rs61741470 36593920 + 36593900 36593940 41 CAGAGGTCAAGCTCATGGACCGAGGCGGAAGCCAGCCCAGA CAGAGGTCAAGCTCAGGGACCGAGGCGGAAGCCAGCCCAGA < 41bp 1 0.452231429316259 1 0.806230247020721 experiment 1 Functional Loss 31061524;GSE122264;BS-seq with improved protocol;Heart;Control|31061524;GSE122267;BS-seq with improved protocol;Muscle;Control|31061524;GSE122269;BS-seq with improved protocol;Testis;Control WDR62 ENSG00000075702 CDS Human protein_coding chr19:36593920 chr19:36593915 nonsynonymous SNV 0.000 0 16 hm5C_associated_SNPs_13642 2 Benign not specified RCV000147955.2
3875 chr19 36593915 36593915 1 + T G rs61741470 36593920 + 36593900 36593940 41 CAGAGGTCAAGCTCATGGACCGAGGCGGAAGCCAGCCCAGA CAGAGGTCAAGCTCAGGGACCGAGGCGGAAGCCAGCCCAGA < 41bp 1 0.452231429316259 1 0.806230247020721 experiment 1 Functional Loss 31061524;GSE122264;BS-seq with improved protocol;Heart;Control|31061524;GSE122267;BS-seq with improved protocol;Muscle;Control|31061524;GSE122269;BS-seq with improved protocol;Testis;Control WDR62 ENSG00000075702 CDS Human protein_coding chr19:36593920 chr19:36593915 nonsynonymous SNV 0.000 0 16 hm5C_associated_SNPs_13642 2 Likely benign Primary Microcephaly 2 With or Without Cortical Malformations RCV000317818.1
3875 chr19 39215172 39215172 1 + T C rs12986337 39215157 + 39215137 39215177 41 GAGCACCTGCGCCGCCAGTTCGCCAGCCAGGCCAATGTTGT GAGCACCTGCGCCGCCAGTTCGCCAGCCAGGCCAACGTTGT < 41bp 1 0.798878016887832 1 0.820617437362671 experiment 0.402243966224336 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215157 chr19:39215172 synonymous SNV . 0 36 hm5C_associated_SNPs_13664 1 Benign not specified RCV000252096.1
3875 chr19 39215172 39215172 1 + T C rs12986337 39215163 + 39215143 39215183 41 CTGCGCCGCCAGTTCGCCAGCCAGGCCAATGTTGTGGGGCC CTGCGCCGCCAGTTCGCCAGCCAGGCCAACGTTGTGGGGCC < 41bp 1 0.348714971383035 1 0.71685928106308 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215163 chr19:39215172 synonymous SNV . 0 30 hm5C_associated_SNPs_13665 1 Benign not specified RCV000252096.1
3875 chr19 39215172 39215172 1 + T C rs12986337 39215169 + 39215149 39215189 41 CGCCAGTTCGCCAGCCAGGCCAATGTTGTGGGGCCCTGGAT CGCCAGTTCGCCAGCCAGGCCAACGTTGTGGGGCCCTGGAT < 41bp 1 0.456183176742751 1 0.0534429848194122 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215169 chr19:39215172 synonymous SNV . 0 24 hm5C_associated_SNPs_13666 1 Benign not specified RCV000252096.1
3875 chr19 39215172 39215172 1 + T C rs12986337 39215182 + 39215162 39215202 41 GCCAGGCCAATGTTGTGGGGCCCTGGATCCAGACCAAGATG GCCAGGCCAACGTTGTGGGGCCCTGGATCCAGACCAAGATG < 41bp 1 0.104352046794516 1 0.0367332398891449 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215182 chr19:39215172 synonymous SNV . 0 11 hm5C_associated_SNPs_13667 1 Benign not specified RCV000252096.1
3875 chr19 39215172 39215172 1 + T C rs12986337 39215184 + 39215164 39215204 41 CAGGCCAATGTTGTGGGGCCCTGGATCCAGACCAAGATGGA CAGGCCAACGTTGTGGGGCCCTGGATCCAGACCAAGATGGA < 41bp 1 0.702907904581321 1 0.654009699821472 experiment 0.594184190837359 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215184 chr19:39215172 synonymous SNV . 0 9 hm5C_associated_SNPs_13668 1 Benign not specified RCV000252096.1
3875 chr19 39215172 39215172 1 + T C rs12986337 39215191 + 39215171 39215211 41 ATGTTGTGGGGCCCTGGATCCAGACCAAGATGGAGGTGAGG ACGTTGTGGGGCCCTGGATCCAGACCAAGATGGAGGTGAGG < 41bp 1 0.239533056881624 1 0.696608364582062 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215191 chr19:39215172 synonymous SNV . 0 2 hm5C_associated_SNPs_13669 1 Benign not specified RCV000252096.1
3875 chr19 39215193 39215193 1 + G A rs145474119 39215182 + 39215162 39215202 41 GCCAGGCCAATGTTGTGGGGCCCTGGATCCAGACCAAGATG GCCAGGCCAATGTTGTGGGGCCCTGGATCCAAACCAAGATG < 41bp 1 0.10421281362232 1 0.0395486950874329 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215182 chr19:39215193 synonymous SNV . 0 32 hm5C_associated_SNPs_13670 1 Benign not specified RCV000244115.1
3875 chr19 39215193 39215193 1 + G A rs145474119 39215184 + 39215164 39215204 41 CAGGCCAATGTTGTGGGGCCCTGGATCCAGACCAAGATGGA CAGGCCAATGTTGTGGGGCCCTGGATCCAAACCAAGATGGA < 41bp 1 0.71844888091096 1 0.552991569042206 experiment 0.56310223817808 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215184 chr19:39215193 synonymous SNV . 0 30 hm5C_associated_SNPs_13671 1 Benign not specified RCV000244115.1
3875 chr19 39215193 39215193 1 + G A rs145474119 39215191 + 39215171 39215211 41 ATGTTGTGGGGCCCTGGATCCAGACCAAGATGGAGGTGAGG ATGTTGTGGGGCCCTGGATCCAAACCAAGATGGAGGTGAGG < 41bp 1 0.137484863404575 1 0.230004519224167 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215191 chr19:39215193 synonymous SNV . 0 23 hm5C_associated_SNPs_13672 1 Benign not specified RCV000244115.1
3875 chr19 39215193 39215193 1 + G A rs145474119 39215195 + 39215175 39215215 41 TGTGGGGCCCTGGATCCAGACCAAGATGGAGGTGAGGCACG TGTGGGGCCCTGGATCCAAACCAAGATGGAGGTGAGGCACG < 41bp 1 0.347489454172836 1 0.714613795280457 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39215195 chr19:39215193 synonymous SNV . 0 19 hm5C_associated_SNPs_13673 1 Benign not specified RCV000244115.1
3875 chr19 39219780 39219780 1 + T C rs1136956 39219773 + 39219753 39219793 41 GACCAGGTCATCGCTTCCTTCAAGGTCTTAGCAGGGGACAA GACCAGGTCATCGCTTCCTTCAAGGTCCTAGCAGGGGACAA < 41bp 1 0.693238972659302 1 0.870664358139038 experiment 0.613522054681396 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39219773 chr19:39219780 synonymous SNV . 0 28 hm5C_associated_SNPs_13674 1 Benign not specified RCV000248576.1
3875 chr19 39421388 39421388 1 + A G rs730078 39421381 - 39421361 39421401 41 AGTGCCGCCTTGTTCCCGGTCCAAGATGGCTGCGTCCATGG AGTGCCGCCTTGTCCCCGGTCCAAGATGGCTGCGTCCATGG < 41bp 1 0.209907462412733 1 0.275477707386017 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control MRPS12;SARS2 ENSG00000104835;ENSG00000128626 UTR5 Human other chr19:39421381 chr19:39421388 . . 0 14 hm5C_associated_SNPs_13677 1 Benign Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis RCV000396786.1
3875 chr19 39421388 39421388 1 + A G rs730078 39421385 - 39421365 39421405 41 ACGAAGTGCCGCCTTGTTCCCGGTCCAAGATGGCTGCGTCC ACGAAGTGCCGCCTTGTCCCCGGTCCAAGATGGCTGCGTCC < 41bp 1 0.206476638760713 1 0.869350790977478 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MRPS12;SARS2 ENSG00000104835;ENSG00000128626 UTR5 Human other chr19:39421385 chr19:39421388 . . 0 18 hm5C_associated_SNPs_13678 1 Benign Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis RCV000396786.1
3875 chr19 41120211 41120211 1 + C G rs200914063 41120209 + 41120189 41120229 41 CCCACATCCGACCACCCGACCTCTCTCCTCAGACGTGGACG CCCACATCCGACCACCCGACCTGTCTCCTCAGACGTGGACG < 41bp 1 0.038913565838735 1 0.00983792543411255 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control LTBP4 ENSG00000090006 intronic Human protein_coding chr19:41120209 chr19:41120211 . . 0 23 hm5C_associated_SNPs_13713 1 Uncertain significance Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities RCV000364178.1
3875 chr19 42364904 42364904 1 + C G rs149249194 42364907 + 42364887 42364927 41 GTCAGAGCTCTGGCAGCCTTCCTCAAAAAGTGAGTTTGGGG GTCAGAGCTCTGGCAGCGTTCCTCAAAAAGTGAGTTTGGGG < 41bp 1 0.216981565478202 1 0.522862672805786 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42364907 chr19:42364904 synonymous SNV . 0 18 hm5C_associated_SNPs_13746 1 Likely benign Diamond-Blackfan anemia RCV000300957.1
3875 chr19 47111761 47111761 1 + G A rs34089805 47111772 + 47111752 47111792 41 TGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGA TGACTTCCCAGAGTTCCTGACCATGATGGCCAGAAAGATGA < 41bp 1 0.0744979886142824 1 0.0297550857067108 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control CALM3 ENSG00000160014 CDS Human protein_coding chr19:47111772 chr19:47111761 synonymous SNV . 0 10 hm5C_associated_SNPs_13809 2 Benign Long QT syndrome 1 RCV000229628.2
3875 chr19 47111761 47111761 1 + G A rs34089805 47111772 + 47111752 47111792 41 TGACTTCCCGGAGTTCCTGACCATGATGGCCAGAAAGATGA TGACTTCCCAGAGTTCCTGACCATGATGGCCAGAAAGATGA < 41bp 1 0.0744979886142824 1 0.0297550857067108 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control CALM3 ENSG00000160014 CDS Human protein_coding chr19:47111772 chr19:47111761 synonymous SNV . 0 10 hm5C_associated_SNPs_13809 2 Benign not specified RCV000444360.1
3875 chr19 49469087 49469087 1 + T C rs2230267 49469074 + 49469054 49469094 41 GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGA GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAACTGGCCGA < 41bp 1 0.44084256726328 1 0.0822116732597351 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTL ENSG00000087086 CDS Human protein_coding chr19:49469074 chr19:49469087 synonymous SNV . 0 34 hm5C_associated_SNPs_13858 5 Likely pathogenic sporadic abdominal aortic aneurysm RCV000144503.1
3875 chr19 49469087 49469087 1 + T C rs2230267 49469074 + 49469054 49469094 41 GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGA GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAACTGGCCGA < 41bp 1 0.44084256726328 1 0.0822116732597351 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTL ENSG00000087086 CDS Human protein_coding chr19:49469074 chr19:49469087 synonymous SNV . 0 34 hm5C_associated_SNPs_13858 5 Benign not specified RCV000146000.2
3875 chr19 49469087 49469087 1 + T C rs2230267 49469074 + 49469054 49469094 41 GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGA GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAACTGGCCGA < 41bp 1 0.44084256726328 1 0.0822116732597351 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTL ENSG00000087086 CDS Human protein_coding chr19:49469074 chr19:49469087 synonymous SNV . 0 34 hm5C_associated_SNPs_13858 5 Benign Neuroferritinopathy RCV000315169.1
3875 chr19 49469087 49469087 1 + T C rs2230267 49469074 + 49469054 49469094 41 GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGA GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAACTGGCCGA < 41bp 1 0.44084256726328 1 0.0822116732597351 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTL ENSG00000087086 CDS Human protein_coding chr19:49469074 chr19:49469087 synonymous SNV . 0 34 hm5C_associated_SNPs_13858 5 Benign Hyperferritinemia cataract syndrome RCV000369896.1
3875 chr19 49469087 49469087 1 + T C rs2230267 49469074 + 49469054 49469094 41 GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAATTGGCCGA GCTCTGGAAGGCGTGAGCCACTTCTTCCGCGAACTGGCCGA < 41bp 1 0.44084256726328 1 0.0822116732597351 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control FTL ENSG00000087086 CDS Human protein_coding chr19:49469074 chr19:49469087 synonymous SNV . 0 34 hm5C_associated_SNPs_13858 5 Benign Glycogen storage disease 0, muscle RCV000370536.1
3875 chr19 50321587 50321587 1 + A G rs114843375 50321567 + 50321547 50321587 41 TTCCGCGGCGTCGGCTGCGGCTGCAGTGGTGGTGGCGGGTA TTCCGCGGCGTCGGCTGCGGCTGCAGTGGTGGTGGCGGGTG < 41bp 1 0.784125597129044 1 0.776008248329163 experiment 0.431748805741912 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control MED25 ENSG00000104973 UTR5 Human protein_coding chr19:50321567 chr19:50321587 . . 0 41 hm5C_associated_SNPs_13923 1 Benign not specified RCV000126731.1
3875 chr19 50333114 50333114 1 + C A rs149788020 50333110 + 50333090 50333130 41 TCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGG TCGGCTTCTGTTTGAGAAGGCAGCACCCCCGGCCTTGCTGG < 41bp 1 0.575377801472489 1 0.294903010129929 experiment 0.849244397055021 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control MED25 ENSG00000104973 CDS Human protein_coding chr19:50333110 chr19:50333114 synonymous SNV . 0 25 hm5C_associated_SNPs_13924 2 Benign not specified RCV000428275.1
3875 chr19 50333114 50333114 1 + C A rs149788020 50333110 + 50333090 50333130 41 TCGGCTTCTGTTTGAGAAGGCAGCCCCCCCGGCCTTGCTGG TCGGCTTCTGTTTGAGAAGGCAGCACCCCCGGCCTTGCTGG < 41bp 1 0.575377801472489 1 0.294903010129929 experiment 0.849244397055021 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control MED25 ENSG00000104973 CDS Human protein_coding chr19:50333110 chr19:50333114 synonymous SNV . 0 25 hm5C_associated_SNPs_13924 2 Benign Charcot-Marie-Tooth disease, type 2 RCV000469894.1
3875 chr19 50755955 50755955 1 + C T rs77895476 50755957 + 50755937 50755977 41 CCCTCTGAATGACAACGTCGCAGCCTTGCTCCACCAGAGCA CCCTCTGAATGACAACGTTGCAGCCTTGCTCCACCAGAGCA < 41bp 1 0.156326146194525 1 0.28753125667572 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MYH14 ENSG00000105357 CDS Human protein_coding chr19:50755957 chr19:50755955 synonymous SNV . 0 19 hm5C_associated_SNPs_13929 2 Benign not specified RCV000037027.2
3875 chr19 50755955 50755955 1 + C T rs77895476 50755957 + 50755937 50755977 41 CCCTCTGAATGACAACGTCGCAGCCTTGCTCCACCAGAGCA CCCTCTGAATGACAACGTTGCAGCCTTGCTCCACCAGAGCA < 41bp 1 0.156326146194525 1 0.28753125667572 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control MYH14 ENSG00000105357 CDS Human protein_coding chr19:50755957 chr19:50755955 synonymous SNV . 0 19 hm5C_associated_SNPs_13929 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000286325.1
3875 chr19 50887601 50887601 1 + G A rs576035899 50887608 + 50887588 50887628 41 CGCGCGGGAGTCAGGGGTCACGGCGGCGTAGGCTGTGGCGG CGCGCGGGAGTCAAGGGTCACGGCGGCGTAGGCTGTGGCGG < 41bp 1 0.704206466622371 1 0.673662304878235 experiment 0.591587066755258 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control POLD1 ENSG00000062822 UTR5 Human protein_coding chr19:50887608 chr19:50887601 . . 0 14 hm5C_associated_SNPs_13938 1 Likely benign not specified RCV000425282.1
3875 chr19 50905042 50905042 1 + G A rs20582 50905041 + 50905021 50905061 41 CTGTGACCCCACAGGCCCAGCGCAGCCTGTGCCTGGGGGGC CTGTGACCCCACAGGCCCAGCACAGCCTGTGCCTGGGGGGC < 41bp 1 0.366268903406819 1 0.184560835361481 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905041 chr19:50905042 synonymous SNV . 0 22 hm5C_associated_SNPs_13940 1 Benign not specified RCV000442660.1
3875 chr19 50912126 50912126 1 + G A rs1726790 50912125 + 50912105 50912145 41 CCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTG CCACAACCTGTGTTACACCACACTCCTTCGGCCCGGGACTG < 41bp 1 0.155154516436718 1 0.085919588804245 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912125 chr19:50912126 synonymous SNV . 0 22 hm5C_associated_SNPs_13941 2 Benign not specified RCV000437779.1
3875 chr19 50912126 50912126 1 + G A rs1726790 50912125 + 50912105 50912145 41 CCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTG CCACAACCTGTGTTACACCACACTCCTTCGGCCCGGGACTG < 41bp 1 0.155154516436718 1 0.085919588804245 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912125 chr19:50912126 synonymous SNV . 0 22 hm5C_associated_SNPs_13941 2 Benign Colorectal cancer 10 RCV000461093.1
3875 chr20 19955664 19955664 1 + C A rs180981486 19955679 + 19955659 19955699 41 CCAGACGAGCATGCCAGAAACAGTCAACCATAACAAACATG CCAGAAGAGCATGCCAGAAACAGTCAACCATAACAAACATG < 41bp 1 0.202524015425135 1 0.472838401794434 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control RIN2 ENSG00000132669 CDS Human protein_coding chr20:19955679 chr20:19955664 nonsynonymous SNV 0.999 0 6 hm5C_associated_SNPs_14156 1 Uncertain significance not specified RCV000489949.1
3875 chr20 19955673 19955673 1 + C G rs200780805 19955679 + 19955659 19955699 41 CCAGACGAGCATGCCAGAAACAGTCAACCATAACAAACATG CCAGACGAGCATGCGAGAAACAGTCAACCATAACAAACATG < 41bp 1 0.182152244690427 1 0.398468375205994 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control RIN2 ENSG00000132669 CDS Human protein_coding chr20:19955679 chr20:19955673 nonsynonymous SNV 1.000 4 15 hm5C_associated_SNPs_14157 1 Uncertain significance not specified RCV000503668.1
3875 chr20 31021430 31021430 1 + G C rs141346625 31021436 + 31021416 31021456 41 CAGCACCCGACCTGGAGGGTCCCGAATTCCCAGTTGAGTCT CAGCACCCGACCTGCAGGGTCCCGAATTCCCAGTTGAGTCT < 41bp 1 0.551086684954266 1 0.177950114011765 experiment 0.897826630091468 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31021436 chr20:31021430 nonsynonymous SNV 0.007 1 15 hm5C_associated_SNPs_14183 1 not provided not specified RCV000120090.1
3875 chr20 31021430 31021430 1 + G C rs141346625 31021437 + 31021417 31021457 41 AGCACCCGACCTGGAGGGTCCCGAATTCCCAGTTGAGTCTG AGCACCCGACCTGCAGGGTCCCGAATTCCCAGTTGAGTCTG < 41bp 1 0.492557458773821 1 0.270046412944794 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31021437 chr20:31021430 nonsynonymous SNV 0.007 1 14 hm5C_associated_SNPs_14184 1 not provided not specified RCV000120090.1
3875 chr20 31024488 31024488 1 + C T rs6057581 31024479 + 31024459 31024499 41 AGCGCCCCAGGCCTGCGGACCCGATGCCTCTTCCTGCTGAG AGCGCCCCAGGCCTGCGGACCCGATGCCTTTTCCTGCTGAG < 41bp 1 0.0946572877706167 1 0.35127454996109 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31024479 chr20:31024488 nonsynonymous SNV 0.246 2 30 hm5C_associated_SNPs_14185 2 not provided not specified RCV000120102.1
3875 chr20 31024488 31024488 1 + C T rs6057581 31024479 + 31024459 31024499 41 AGCGCCCCAGGCCTGCGGACCCGATGCCTCTTCCTGCTGAG AGCGCCCCAGGCCTGCGGACCCGATGCCTTTTCCTGCTGAG < 41bp 1 0.0946572877706167 1 0.35127454996109 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31024479 chr20:31024488 nonsynonymous SNV 0.246 2 30 hm5C_associated_SNPs_14185 2 Benign C-like syndrome RCV000361233.1
3875 chr20 31025163 31025163 1 + A G rs2295764 31025162 + 31025142 31025182 41 TAAATTATGGCCATGGGAAACATTGTATATTTAGTGTGTGT TAAATTATGGCCATGGGAAACGTTGTATATTTAGTGTGTGT < 41bp 1 0.0547027406921344 1 0.151070445775986 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control ASXL1 ENSG00000171456 UTR3 Human protein_coding chr20:31025162 chr20:31025163 . . 0 22 hm5C_associated_SNPs_14186 1 Benign C-like syndrome RCV000386449.1
3875 chr20 57023850 57023850 1 + A G rs73296848 57023855 + 57023835 57023875 41 AGTGAAAAAAGGTACATATTCCATTTTCTCATTGCCTGAAG AGTGAAAAAAGGTACGTATTCCATTTTCTCATTGCCTGAAG < 41bp 1 0.142717372736263 1 0.233922481536865 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023855 chr20:57023850 . . 0 16 hm5C_associated_SNPs_14281 2 Likely benign Spinal Muscular Atrophy, Dominant RCV000270178.1
3875 chr20 57023850 57023850 1 + A G rs73296848 57023855 + 57023835 57023875 41 AGTGAAAAAAGGTACATATTCCATTTTCTCATTGCCTGAAG AGTGAAAAAAGGTACGTATTCCATTTTCTCATTGCCTGAAG < 41bp 1 0.142717372736263 1 0.233922481536865 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023855 chr20:57023850 . . 0 16 hm5C_associated_SNPs_14281 2 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000325219.1
3875 chr20 57253890 57253890 1 + G C rs75424783 57253901 + 57253881 57253921 41 GGTACCTCAGGGTTTCTTTCCCTTTACTCGCTGGCAGCCAT GGTACCTCACGGTTTCTTTCCCTTTACTCGCTGGCAGCCAT < 41bp 1 0.0401514573218626 1 0.0919118821620941 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control STX16-NPEPL1 ENSG00000124222 UTR3 Human protein_coding chr20:57253901 chr20:57253890 . . 0 10 hm5C_associated_SNPs_14282 1 Likely benign Pseudohypoaldosteronism, Type I, Dominant RCV000361149.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566984 + 62566964 62567004 41 GAAGGGGCCCTGTGCTGGCCCCGGGTCCGCCCCAGAGGAGT GAAGGGGCCCTGTGCTGGCCCCAGGTCCGCCCCAGAGGAGT < 41bp 1 0.335652276797897 1 0.746488869190216 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566984 chr20:62566986 . . 0 23 hm5C_associated_SNPs_14331 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566985 + 62566965 62567005 41 AAGGGGCCCTGTGCTGGCCCCGGGTCCGCCCCAGAGGAGTC AAGGGGCCCTGTGCTGGCCCCAGGTCCGCCCCAGAGGAGTC < 41bp 1 0.543097967089584 1 0.746647417545319 experiment 0.913804065820831 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566985 chr20:62566986 . . 0 22 hm5C_associated_SNPs_14332 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566990 + 62566970 62567010 41 GCCCTGTGCTGGCCCCGGGTCCGCCCCAGAGGAGTCCACAC GCCCTGTGCTGGCCCCAGGTCCGCCCCAGAGGAGTCCACAC < 41bp 1 0.217718242903178 1 0.179878652095795 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566990 chr20:62566986 . . 0 17 hm5C_associated_SNPs_14333 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566991 + 62566971 62567011 41 CCCTGTGCTGGCCCCGGGTCCGCCCCAGAGGAGTCCACACA CCCTGTGCTGGCCCCAGGTCCGCCCCAGAGGAGTCCACACA < 41bp 1 0.295033521347032 1 0.260623425245285 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566991 chr20:62566986 . . 0 16 hm5C_associated_SNPs_14334 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566993 + 62566973 62567013 41 CTGTGCTGGCCCCGGGTCCGCCCCAGAGGAGTCCACACAGC CTGTGCTGGCCCCAGGTCCGCCCCAGAGGAGTCCACACAGC < 41bp 1 0.554708816196244 1 0.181692063808441 experiment 0.890582367607512 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566993 chr20:62566986 . . 0 14 hm5C_associated_SNPs_14335 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566994 + 62566974 62567014 41 TGTGCTGGCCCCGGGTCCGCCCCAGAGGAGTCCACACAGCA TGTGCTGGCCCCAGGTCCGCCCCAGAGGAGTCCACACAGCA < 41bp 1 0.184405846143819 1 0.505933046340942 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566994 chr20:62566986 . . 0 13 hm5C_associated_SNPs_14336 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566995 + 62566975 62567015 41 GTGCTGGCCCCGGGTCCGCCCCAGAGGAGTCCACACAGCAC GTGCTGGCCCCAGGTCCGCCCCAGAGGAGTCCACACAGCAC < 41bp 1 0.644239609391435 1 0.770483136177063 experiment 0.71152078121713 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566995 chr20:62566986 . . 0 12 hm5C_associated_SNPs_14337 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62566986 62566986 1 + G A rs373099874 62566996 + 62566976 62567016 41 TGCTGGCCCCGGGTCCGCCCCAGAGGAGTCCACACAGCACC TGCTGGCCCCAGGTCCGCCCCAGAGGAGTCCACACAGCACC < 41bp 1 0.607184374120593 1 0.859338402748108 experiment 0.785631251758815 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566996 chr20:62566986 . . 0 11 hm5C_associated_SNPs_14338 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Recessive RCV000274854.1
3875 chr20 62567038 62567038 1 + C T rs11554630 62567031 + 62567011 62567051 41 AGCACCACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGG AGCACCACCTCCAGAAGGGGCTGGGCCTGGGGTCCTGCAGG < 41bp 1 0.682930812804947 1 0.562683045864105 experiment 0.634138374390106 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567031 chr20:62567038 . . 0 28 hm5C_associated_SNPs_14346 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000278391.1
3875 chr20 62567038 62567038 1 + C T rs11554630 62567036 + 62567016 62567056 41 CACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGCGGCA CACCTCCAGAAGGGGCTGGGCCTGGGGTCCTGCAGGCGGCA < 41bp 1 0.194732872119369 1 0.342066764831543 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567036 chr20:62567038 . . 0 23 hm5C_associated_SNPs_14347 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000278391.1
3875 chr20 62567050 62567050 1 + G C rs191412647 62567031 + 62567011 62567051 41 AGCACCACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGG AGCACCACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCACG < 41bp 1 0.711569261993297 1 0.538369953632355 experiment 0.576861476013407 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567031 chr20:62567050 . . 0 40 hm5C_associated_SNPs_14348 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000316977.1
3875 chr20 62567050 62567050 1 + G C rs191412647 62567036 + 62567016 62567056 41 CACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGCGGCA CACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCACGCGGCA < 41bp 1 0.423713501475164 1 0.547479331493378 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567036 chr20:62567050 . . 0 35 hm5C_associated_SNPs_14349 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000316977.1
3875 chr20 62567050 62567050 1 + G C rs191412647 62567037 + 62567017 62567057 41 ACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGCGGCAC ACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCACGCGGCAC < 41bp 1 0.753137670794499 1 0.75341409444809 experiment 0.493724658411002 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567037 chr20:62567050 . . 0 34 hm5C_associated_SNPs_14350 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000316977.1
3875 chr20 62567052 62567052 1 + C T rs146360147 62567036 + 62567016 62567056 41 CACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGCGGCA CACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGTGGCA < 41bp 1 0.333996772770199 1 0.407073557376862 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567036 chr20:62567052 . . 0 37 hm5C_associated_SNPs_14351 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000373885.1
3875 chr20 62567052 62567052 1 + C T rs146360147 62567037 + 62567017 62567057 41 ACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGCGGCAC ACCTCCAGAAGGGGCTGGGCCCGGGGTCCTGCAGGTGGCAC < 41bp 1 0.682502531158312 1 0.651510834693909 experiment 0.634994937683376 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62567037 chr20:62567052 . . 0 36 hm5C_associated_SNPs_14352 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000373885.1
3875 chr21 33040849 33040849 1 + T A rs143100660 33040833 + 33040813 33040853 41 AGGTGGAAATGAAGAAAGTACAAAGACAGGAAACGCTGGAA AGGTGGAAATGAAGAAAGTACAAAGACAGGAAACGCAGGAA < 41bp 1 0.662580142777395 1 0.362880706787109 experiment 0.674839714445211 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout SOD1 ENSG00000142168 CDS Human protein_coding chr21:33040833 chr21:33040849 synonymous SNV . 0 37 hm5C_associated_SNPs_14414 1 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000347697.1
3875 chr21 34787294 34787294 1 + C G rs4986958 34787311 + 34787291 34787331 41 GCACGAGGCCTGTTGTCTACCAAGTGCAGTTTAAATAGTAA GCAGGAGGCCTGTTGTCTACCAAGTGCAGTTTAAATAGTAA < 41bp 1 0.567372969733284 1 0.701852202415466 experiment 0.865254060533431 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control IFNGR2 ENSG00000159128 CDS Human protein_coding chr21:34787311 chr21:34787294 nonsynonymous SNV 0.001 1 4 hm5C_associated_SNPs_14418 1 Benign Interferon gamma receptor deficiency RCV000030045.1
3875 chr21 46900062 46900062 1 + G A rs61738822 46900048 + 46900028 46900068 41 GCCTCCAGGGCCCCCAGGACCCTCCTTCAGACACGACAAGC GCCTCCAGGGCCCCCAGGACCCTCCTTCAGACACAACAAGC < 41bp 1 0.0485315679437501 1 0.0588445067405701 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46900048 chr21:46900062 nonsynonymous SNV 0.846 3 35 hm5C_associated_SNPs_14492 1 Uncertain significance Knobloch syndrome 1 RCV000318239.1
3875 chr21 46900410 46900410 1 + C T rs2236467 46900416 + 46900396 46900436 41 GAGGGATCTGGCTTCGGGGGCGATCTGGAGGCCCTGCGGGT GAGGGATCTGGCTTTGGGGGCGATCTGGAGGCCCTGCGGGT < 41bp 1 0.0373459918126716 1 0.162252157926559 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46900416 chr21:46900410 synonymous SNV . 0 15 hm5C_associated_SNPs_14493 1 Benign Knobloch syndrome 1 RCV000273715.1
3875 chr21 46931109 46931109 1 + G A rs12483377 46931104 + 46931084 46931124 41 GCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCC GCCCGGGGCACGCATCTTCTCCTTTAACGGCAAGGACGTCC < 41bp 1 0.04101942464833 1 0.346382081508636 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46931104 chr21:46931109 nonsynonymous SNV 0.595 3 26 hm5C_associated_SNPs_14494 2 Pathogenic Knobloch syndrome 1 RCV000018655.28
3875 chr21 46931109 46931109 1 + G A rs12483377 46931104 + 46931084 46931124 41 GCCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCC GCCCGGGGCACGCATCTTCTCCTTTAACGGCAAGGACGTCC < 41bp 1 0.04101942464833 1 0.346382081508636 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46931104 chr21:46931109 nonsynonymous SNV 0.595 3 26 hm5C_associated_SNPs_14494 2 Benign not specified RCV000248578.1
3875 chr21 46931109 46931109 1 + G A rs12483377 46931105 + 46931085 46931125 41 CCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCT CCCGGGGCACGCATCTTCTCCTTTAACGGCAAGGACGTCCT < 41bp 1 0.118438262340799 1 0.190991878509521 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46931105 chr21:46931109 nonsynonymous SNV 0.595 3 25 hm5C_associated_SNPs_14495 2 Pathogenic Knobloch syndrome 1 RCV000018655.28
3875 chr21 46931109 46931109 1 + G A rs12483377 46931105 + 46931085 46931125 41 CCCGGGGCACGCATCTTCTCCTTTGACGGCAAGGACGTCCT CCCGGGGCACGCATCTTCTCCTTTAACGGCAAGGACGTCCT < 41bp 1 0.118438262340799 1 0.190991878509521 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46931105 chr21:46931109 nonsynonymous SNV 0.595 3 25 hm5C_associated_SNPs_14495 2 Benign not specified RCV000248578.1
3875 chr21 47424502 47424502 1 + A G rs183666840 47424487 + 47424467 47424507 41 TCAAAGCAAGCTCTTCTCCTCAGCTTGGGGCAGCCATTGGC TCAAAGCAAGCTCTTCTCCTCAGCTTGGGGCAGCCGTTGGC < 41bp 1 0.373380410785778 1 0.32304510474205 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control COL6A1 ENSG00000142156 UTR3 Human protein_coding chr21:47424487 chr21:47424502 . . 0 36 hm5C_associated_SNPs_14496 1 Likely benign Collagen VI-related myopathy RCV000345379.1
3875 chr21 47754541 47754541 1 + A G rs61735824 47754537 + 47754517 47754557 41 GTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGT GTTCACAGTCAGTGACCACCCACCGGAACAGCGTGGGATGT < 41bp 1 0.52530557609166 1 0.440201908349991 experiment 0.949388847816679 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47754537 chr21:47754541 synonymous SNV . 0 25 hm5C_associated_SNPs_14498 2 Benign not specified RCV000147140.3
3875 chr21 47754541 47754541 1 + A G rs61735824 47754537 + 47754517 47754557 41 GTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGT GTTCACAGTCAGTGACCACCCACCGGAACAGCGTGGGATGT < 41bp 1 0.52530557609166 1 0.440201908349991 experiment 0.949388847816679 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47754537 chr21:47754541 synonymous SNV . 0 25 hm5C_associated_SNPs_14498 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000268541.1
3875 chr21 47831309 47831309 1 + G A rs58559714 47831301 + 47831281 47831321 41 ACAGTCAGGCTGGCAGTCTGCAGAGCGAGCTGCTCTGCTCC ACAGTCAGGCTGGCAGTCTGCAGAGCGAACTGCTCTGCTCC < 41bp 1 0.46204611197901 1 0.871126115322113 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control|28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133672;RNA-BisSeq;T24;Control|31061524;GSE122260;BS-seq with improved protocol;HEK293T;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|31061524;GSE122263;BS-seq with improved protocol;Frontal cortex;Control|31061524;GSE122265;BS-seq with improved protocol;Lung;Control|31061524;GSE122267;BS-seq with improved protocol;Muscle;Control|31061524;GSE122269;BS-seq with improved protocol;Testis;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47831301 chr21:47831309 synonymous SNV . 0 29 hm5C_associated_SNPs_14500 2 Benign not specified RCV000147145.2
3875 chr21 47831309 47831309 1 + G A rs58559714 47831301 + 47831281 47831321 41 ACAGTCAGGCTGGCAGTCTGCAGAGCGAGCTGCTCTGCTCC ACAGTCAGGCTGGCAGTCTGCAGAGCGAACTGCTCTGCTCC < 41bp 1 0.46204611197901 1 0.871126115322113 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control|28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133672;RNA-BisSeq;T24;Control|31061524;GSE122260;BS-seq with improved protocol;HEK293T;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout|31061524;GSE122263;BS-seq with improved protocol;Frontal cortex;Control|31061524;GSE122265;BS-seq with improved protocol;Lung;Control|31061524;GSE122267;BS-seq with improved protocol;Muscle;Control|31061524;GSE122269;BS-seq with improved protocol;Testis;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47831301 chr21:47831309 synonymous SNV . 0 29 hm5C_associated_SNPs_14500 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000293755.1
3875 chr21 47836411 47836411 1 + G A rs150756913 47836431 + 47836411 47836451 41 GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG AACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG < 41bp 1 0.117486733290052 1 0.44178569316864 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47836431 chr21:47836411 synonymous SNV . 0 1 hm5C_associated_SNPs_14508 2 Benign not specified RCV000147170.2
3875 chr21 47836411 47836411 1 + G A rs150756913 47836431 + 47836411 47836451 41 GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG AACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG < 41bp 1 0.117486733290052 1 0.44178569316864 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47836431 chr21:47836411 synonymous SNV . 0 1 hm5C_associated_SNPs_14508 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000273149.1
3875 chr21 47836426 47836426 1 + T C rs57108405 47836431 + 47836411 47836451 41 GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG GACCAGCGTACTTGGCGGCTCCCGCCACCAGAGCCACACTG < 41bp 1 0.115740806908236 1 0.469164162874222 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47836431 chr21:47836426 synonymous SNV . 0 16 hm5C_associated_SNPs_14509 2 Benign not specified RCV000147171.2
3875 chr21 47836426 47836426 1 + T C rs57108405 47836431 + 47836411 47836451 41 GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG GACCAGCGTACTTGGCGGCTCCCGCCACCAGAGCCACACTG < 41bp 1 0.115740806908236 1 0.469164162874222 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47836431 chr21:47836426 synonymous SNV . 0 16 hm5C_associated_SNPs_14509 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000264594.1
3875 chr21 47836448 47836448 1 + A G rs9981448 47836431 + 47836411 47836451 41 GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACGCTG < 41bp 1 0.126045187023159 1 0.450048208236694 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47836431 chr21:47836448 nonsynonymous SNV 0.000 0 38 hm5C_associated_SNPs_14510 2 Benign not specified RCV000147172.1
3875 chr21 47836448 47836448 1 + A G rs9981448 47836431 + 47836411 47836451 41 GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACACTG GACCAGCGTACTTGGTGGCTCCCGCCACCAGAGCCACGCTG < 41bp 1 0.126045187023159 1 0.450048208236694 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47836431 chr21:47836448 nonsynonymous SNV 0.000 0 38 hm5C_associated_SNPs_14510 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000324391.1
3875 chr21 47841989 47841989 1 + C T rs61735814 47842001 + 47841981 47842021 41 GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGC GTTTCAGCTGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGC < 41bp 1 0.0589906003150226 1 0.404620885848999 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47842001 chr21:47841989 nonsynonymous SNV 0.000 0 9 hm5C_associated_SNPs_14511 2 Benign not specified RCV000147191.2
3875 chr21 47841989 47841989 1 + C T rs61735814 47842001 + 47841981 47842021 41 GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGC GTTTCAGCTGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGC < 41bp 1 0.0589906003150226 1 0.404620885848999 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47842001 chr21:47841989 nonsynonymous SNV 0.000 0 9 hm5C_associated_SNPs_14511 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000374130.1
3875 chr21 47842018 47842018 1 + G A rs75024419 47842001 + 47841981 47842021 41 GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGC GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAATGC < 41bp 1 0.054644682748791 1 0.306631803512573 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47842001 chr21:47842018 nonsynonymous SNV 0.006 2 38 hm5C_associated_SNPs_14512 2 Benign not specified RCV000147192.1
3875 chr21 47842018 47842018 1 + G A rs75024419 47842001 + 47841981 47842021 41 GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGC GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAATGC < 41bp 1 0.054644682748791 1 0.306631803512573 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47842001 chr21:47842018 nonsynonymous SNV 0.006 2 38 hm5C_associated_SNPs_14512 2 Likely benign not provided RCV000440995.1
3875 chr21 47864716 47864716 1 + T C rs111389121 47864706 + 47864686 47864726 41 ATTCACCATTTAGAAGTGATCCAGCAAAGATTGGGAGGGGT ATTCACCATTTAGAAGTGATCCAGCAAAGACTGGGAGGGGT < 41bp 1 0.0590581093542597 1 0.414367079734802 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47864706 chr21:47864716 synonymous SNV . 0 31 hm5C_associated_SNPs_14513 2 Uncertain significance Microcephalic Osteodysplastic Primordial Dwarfism RCV000313955.1
3875 chr21 47864716 47864716 1 + T C rs111389121 47864706 + 47864686 47864726 41 ATTCACCATTTAGAAGTGATCCAGCAAAGATTGGGAGGGGT ATTCACCATTTAGAAGTGATCCAGCAAAGACTGGGAGGGGT < 41bp 1 0.0590581093542597 1 0.414367079734802 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47864706 chr21:47864716 synonymous SNV . 0 31 hm5C_associated_SNPs_14513 2 Likely benign not specified RCV000417563.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572577 + 18572557 18572597 41 TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTA TCCCGGGTTCATGCCATTCTCCTGGCTCAGCCTCCCGAGTA < 41bp 1 0.680169900540636 1 0.379243016242981 experiment 0.639660198918728 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572577 chr22:18572581 . . 0 25 hm5C_associated_SNPs_14519 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572578 + 18572558 18572598 41 CCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CCCGGGTTCATGCCATTCTCCTGGCTCAGCCTCCCGAGTAG < 41bp 1 0.723801922210312 1 0.504010081291199 experiment 0.552396155579375 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572578 chr22:18572581 . . 0 24 hm5C_associated_SNPs_14520 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572582 + 18572562 18572602 41 GGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGG GGTTCATGCCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGG < 41bp 1 0.492328997533555 1 0.133725225925446 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572582 chr22:18572581 . . 0 20 hm5C_associated_SNPs_14521 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572584 + 18572564 18572604 41 TTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGA TTCATGCCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGA < 41bp 1 0.405999521375079 1 0.445130050182343 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572584 chr22:18572581 . . 0 18 hm5C_associated_SNPs_14522 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572587 + 18572567 18572607 41 ATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA ATGCCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTA < 41bp 1 0.0830443178732364 1 0.123361855745316 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572587 chr22:18572581 . . 0 15 hm5C_associated_SNPs_14523 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572588 + 18572568 18572608 41 TGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTAC TGCCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTAC < 41bp 1 0.363446339255934 1 0.315317571163177 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572588 chr22:18572581 . . 0 14 hm5C_associated_SNPs_14524 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572590 + 18572570 18572610 41 CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAG CCATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAG < 41bp 1 0.711961338038181 1 0.421082854270935 experiment 0.576077323923638 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572590 chr22:18572581 . . 0 12 hm5C_associated_SNPs_14525 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572591 + 18572571 18572611 41 CATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGG < 41bp 1 0.311731456129864 1 0.621670365333557 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572591 chr22:18572581 . . 0 11 hm5C_associated_SNPs_14526 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572581 18572581 1 + C G rs139987168 18572592 + 18572572 18572612 41 ATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGT ATTCTCCTGGCTCAGCCTCCCGAGTAGCTGGGACTACAGGT < 41bp 1 0.662924313779634 1 0.588994145393372 experiment 0.674151372440733 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572592 chr22:18572581 . . 0 10 hm5C_associated_SNPs_14527 1 Uncertain significance Zellweger syndrome RCV000358531.1
3875 chr22 18572619 18572619 1 + C T rs79447039 18572605 + 18572585 18572625 41 AGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACCACCTCG AGCCTCCCGAGTAGCTGGGACTACAGGTGCCCACTACCTCG < 41bp 1 0.674671196005148 1 0.443448215723038 experiment 0.650657607989704 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572605 chr22:18572619 . . 0 35 hm5C_associated_SNPs_14540 1 Likely benign Zellweger syndrome RCV000265798.1
3875 chr22 18572619 18572619 1 + C T rs79447039 18572614 + 18572594 18572634 41 AGTAGCTGGGACTACAGGTGCCCACCACCTCGCCTGGCTAA AGTAGCTGGGACTACAGGTGCCCACTACCTCGCCTGGCTAA < 41bp 1 0.223282836897264 1 0.140382885932922 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572614 chr22:18572619 . . 0 26 hm5C_associated_SNPs_14541 1 Likely benign Zellweger syndrome RCV000265798.1
3875 chr22 18572619 18572619 1 + C T rs79447039 18572615 + 18572595 18572635 41 GTAGCTGGGACTACAGGTGCCCACCACCTCGCCTGGCTAAT GTAGCTGGGACTACAGGTGCCCACTACCTCGCCTGGCTAAT < 41bp 1 0.119491949026108 1 0.0504143834114075 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572615 chr22:18572619 . . 0 25 hm5C_associated_SNPs_14542 1 Likely benign Zellweger syndrome RCV000265798.1
3875 chr22 18572619 18572619 1 + C T rs79447039 18572616 + 18572596 18572636 41 TAGCTGGGACTACAGGTGCCCACCACCTCGCCTGGCTAATA TAGCTGGGACTACAGGTGCCCACTACCTCGCCTGGCTAATA < 41bp 1 0.38286547831384 1 0.111983388662338 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572616 chr22:18572619 . . 0 24 hm5C_associated_SNPs_14543 1 Likely benign Zellweger syndrome RCV000265798.1
3875 chr22 32174124 32174124 1 + C T rs558913954 32174133 + 32174113 32174153 41 AATGAGAAGGTCATGTGTGGCTACATCAGTGAAGATACCAG AATGAGAAGGTTATGTGTGGCTACATCAGTGAAGATACCAG < 41bp 1 0.459168788039121 1 0.84168815612793 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control DEPDC5 ENSG00000100150 CDS Human protein_coding chr22:32174133 chr22:32174124 synonymous SNV . 0 12 hm5C_associated_SNPs_14642 1 Likely benign Epilepsy, familial focal, with variable foci 1 RCV000474796.1
3875 chr22 32234797 32234797 1 + G A rs61731664 32234816 + 32234796 32234836 41 CGCCCCCGCTGAGCAGTAGCCCACTCTATAGCCGAGGTGAG CACCCCCGCTGAGCAGTAGCCCACTCTATAGCCGAGGTGAG < 41bp 1 0.133662296857845 1 0.0595917999744415 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DEPDC5 ENSG00000100150 CDS Human protein_coding chr22:32234816 chr22:32234797 synonymous SNV . 0 2 hm5C_associated_SNPs_14643 2 Benign Epilepsy, familial focal, with variable foci 1 RCV000228530.2
3875 chr22 32234797 32234797 1 + G A rs61731664 32234816 + 32234796 32234836 41 CGCCCCCGCTGAGCAGTAGCCCACTCTATAGCCGAGGTGAG CACCCCCGCTGAGCAGTAGCCCACTCTATAGCCGAGGTGAG < 41bp 1 0.133662296857845 1 0.0595917999744415 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DEPDC5 ENSG00000100150 CDS Human protein_coding chr22:32234816 chr22:32234797 synonymous SNV . 0 2 hm5C_associated_SNPs_14643 2 Benign not specified RCV000245359.1
3875 chr22 32270378 32270378 1 + T C rs200653339 32270365 + 32270345 32270385 41 ACGTGGAGGGGATCCAGACACAGGCGATGGCCATTGACATC ACGTGGAGGGGATCCAGACACAGGCGATGGCCACTGACATC < 41bp 1 0.792665507055749 1 0.797414898872375 experiment 0.414668985888503 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control DEPDC5 ENSG00000100150 CDS Human protein_coding chr22:32270365 chr22:32270378 nonsynonymous SNV 0.993 0 34 hm5C_associated_SNPs_14644 1 Benign Epilepsy, familial focal, with variable foci 1 RCV000476223.1
3875 chr22 32889249 32889249 1 + A G rs147911892 32889253 + 32889233 32889273 41 TCCTGTGGAGGTTTTTATATCTGCGTGATTTTCGAGGTGAT TCCTGTGGAGGTTTTTGTATCTGCGTGATTTTCGAGGTGAT < 41bp 1 0.547177859671872 1 0.289457559585571 experiment 0.905644280656256 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control FBXO7 ENSG00000100225 CDS Human protein_coding chr22:32889253 chr22:32889249 synonymous SNV . 0 17 hm5C_associated_SNPs_14646 1 Uncertain significance Parkinson Disease, Recessive RCV000312608.1
3875 chr22 33197871 33197871 1 + G A rs191293675 33197890 + 33197870 33197910 41 GGTTGCCCCGCACGGCCCGGCGGGCGAGCGAGCTCGGGCTG GATTGCCCCGCACGGCCCGGCGGGCGAGCGAGCTCGGGCTG < 41bp 1 0.748732876876929 1 0.806392669677734 experiment 0.502534246246141 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control TIMP3 ENSG00000100234 UTR5 Human protein_coding chr22:33197890 chr22:33197871 . . 0 2 hm5C_associated_SNPs_14647 1 Likely benign Pseudoinflammatory fundus dystrophy RCV000359778.1
3875 chr22 46733831 46733831 1 + G A rs55952751 46733839 + 46733819 46733859 41 GAGTATTGGAATGATGTGTTCAGGTGAGTGCGGGTCACAGC GAGTATTGGAATAATGTGTTCAGGTGAGTGCGGGTCACAGC < 41bp 1 0.678637496492344 1 0.75324273109436 experiment 0.642725007015312 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control TRMU ENSG00000100416 CDS Human protein_coding chr22:46733839 chr22:46733831 nonsynonymous SNV 0.846 0 13 hm5C_associated_SNPs_14793 1 Benign not specified RCV000199813.4
3875 chrX 17705962 17705962 1 + C T rs138104885 17705955 + 17705935 17705975 41 CTTCCTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGC CTTCCTCCCAGCCACAAGGCCACCCTGTGTGGAGGAGCTGC < 41bp 1 0.320109222545132 1 0.0274228453636169 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NHS ENSG00000188158 CDS Human protein_coding chrX:17705955 chrX:17705962 synonymous SNV . 0 28 hm5C_associated_SNPs_14887 1 Likely benign not specified RCV000176004.1
3875 chrX 17705962 17705962 1 + C T rs138104885 17705959 + 17705939 17705979 41 CTCCCAGCCACAAGGCCACCCTGCGTGGAGGAGCTGCACCG CTCCCAGCCACAAGGCCACCCTGTGTGGAGGAGCTGCACCG < 41bp 1 0.620716280337514 1 0.358493685722351 experiment 0.758567439324972 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NHS ENSG00000188158 CDS Human protein_coding chrX:17705959 chrX:17705962 synonymous SNV . 0 24 hm5C_associated_SNPs_14888 1 Likely benign not specified RCV000176004.1
3875 chrX 19373842 19373842 1 + A G rs35752213 19373838 + 19373818 19373858 41 TATCCTGTGCGTCCGAGAGGCAACAAGGTTTGCTGCTGCCT TATCCTGTGCGTCCGAGAGGCAACGAGGTTTGCTGCTGCCT < 41bp 1 0.477234496870227 1 0.394874572753906 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PDHA1 ENSG00000131828 CDS Human protein_coding chrX:19373838 chrX:19373842 synonymous SNV . 0 25 hm5C_associated_SNPs_14890 1 Likely benign not specified RCV000425015.1
3875 chrX 40450506 40450506 1 + C T rs150392503 40450488 + 40450468 40450508 41 GTGCTTTTCAATGTTTAGGACCTTTCTTGGCCAGGACTCGC GTGCTTTTCAATGTTTAGGACCTTTCTTGGCCAGGACTTGC < 41bp 1 0.0226647227190549 1 0.0104721784591675 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ATP6AP2 ENSG00000182220 CDS Human protein_coding chrX:40450488 chrX:40450506 synonymous SNV . 0 39 hm5C_associated_SNPs_14909 1 Benign not specified RCV000123777.2
3875 chrX 49103973 49103973 1 + C A rs183877705 49103974 + 49103954 49103994 41 TAGGAGCCCCAGGCCCAGGCCACTCAGGTGTCAGATGTGCC TAGGAGCCCCAGGCCCAGGACACTCAGGTGTCAGATGTGCC < 41bp 1 0.0855079114982349 1 0.0480757057666779 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control CCDC22 ENSG00000101997 CDS Human protein_coding chrX:49103974 chrX:49103973 nonsynonymous SNV 0.930 1 20 hm5C_associated_SNPs_14929 1 Likely benign not specified RCV000502625.1
3875 chrX 53223819 53223819 1 + C T rs76525703 53223826 - 53223806 53223846 41 GCCCAGTCCACTGGCATCATCGAGCACGGCCTCCTCTACAA GCCCAGTCCACTGGCATCATCGAGCACAGCCTCCTCTACAA < 41bp 1 0.570143058727418 1 0.916337609291077 experiment 0.859713882545164 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control KDM5C ENSG00000126012 CDS Human protein_coding chrX:53223826 chrX:53223819 synonymous SNV . 0 28 hm5C_associated_SNPs_14934 1 Benign not specified RCV000390652.1
3875 chrX 68059869 68059869 1 + T C rs16989105 68059888 + 68059868 68059908 41 GTCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCT GCCAAGATGGCCACACAGGCCCCTGGTAGTCGGGGCTCCCT < 41bp 1 0.184316162693402 1 0.0956226885318756 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control EFNB1 ENSG00000090776 CDS Human protein_coding chrX:68059888 chrX:68059869 nonsynonymous SNV 0.985 1 2 hm5C_associated_SNPs_14955 1 Benign Craniofrontonasal dysplasia RCV000415485.1
3875 chrX 106893247 106893247 1 + C T rs147731055 106893248 + 106893228 106893268 41 CCGTTTCTTACCTATTCAGCCATGTCCCTTTATAATAGAGT CCGTTTCTTACCTATTCAGTCATGTCCCTTTATAATAGAGT < 41bp 1 0.068655392456067 1 0.106963068246841 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PRPS1 ENSG00000147224 CDS Human protein_coding chrX:106893248 chrX:106893247 synonymous SNV . 0 20 hm5C_associated_SNPs_15019 2 other not specified RCV000222584.3
3875 chrX 106893247 106893247 1 + C T rs147731055 106893248 + 106893228 106893268 41 CCGTTTCTTACCTATTCAGCCATGTCCCTTTATAATAGAGT CCGTTTCTTACCTATTCAGTCATGTCCCTTTATAATAGAGT < 41bp 1 0.068655392456067 1 0.106963068246841 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PRPS1 ENSG00000147224 CDS Human protein_coding chrX:106893248 chrX:106893247 synonymous SNV . 0 20 hm5C_associated_SNPs_15019 2 Benign Charcot-Marie-Tooth Neuropathy X RCV000474888.1
3875 chrX 106893247 106893247 1 + C T rs147731055 106893253 + 106893233 106893273 41 TCTTACCTATTCAGCCATGTCCCTTTATAATAGAGTAACTT TCTTACCTATTCAGTCATGTCCCTTTATAATAGAGTAACTT < 41bp 1 0.0786226963761706 1 0.0585769414901733 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PRPS1 ENSG00000147224 CDS Human protein_coding chrX:106893253 chrX:106893247 synonymous SNV . 0 15 hm5C_associated_SNPs_15020 2 other not specified RCV000222584.3
3875 chrX 106893247 106893247 1 + C T rs147731055 106893253 + 106893233 106893273 41 TCTTACCTATTCAGCCATGTCCCTTTATAATAGAGTAACTT TCTTACCTATTCAGTCATGTCCCTTTATAATAGAGTAACTT < 41bp 1 0.0786226963761706 1 0.0585769414901733 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PRPS1 ENSG00000147224 CDS Human protein_coding chrX:106893253 chrX:106893247 synonymous SNV . 0 15 hm5C_associated_SNPs_15020 2 Benign Charcot-Marie-Tooth Neuropathy X RCV000474888.1
3875 chrX 107834411 107834411 1 + C A rs142883891 107834422 + 107834402 107834442 41 AGCCTGGGGCTCCTGGGCTTCCAGGGCCTCCTGGCCCTGCT AGCCTGGGGATCCTGGGCTTCCAGGGCCTCCTGGCCCTGCT < 41bp 1 0.599465874889599 1 0.877705752849579 experiment 0.801068250220802 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout COL4A5 ENSG00000188153 CDS Human protein_coding chrX:107834422 chrX:107834411 nonsynonymous SNV 1.000 1 10 hm5C_associated_SNPs_15024 2 Likely benign not specified RCV000249325.1
3875 chrX 107834411 107834411 1 + C A rs142883891 107834422 + 107834402 107834442 41 AGCCTGGGGCTCCTGGGCTTCCAGGGCCTCCTGGCCCTGCT AGCCTGGGGATCCTGGGCTTCCAGGGCCTCCTGGCCCTGCT < 41bp 1 0.599465874889599 1 0.877705752849579 experiment 0.801068250220802 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|31061524;GSE122262;BS-seq with improved protocol;Hela;NSUN2 Knockout COL4A5 ENSG00000188153 CDS Human protein_coding chrX:107834422 chrX:107834411 nonsynonymous SNV 1.000 1 10 hm5C_associated_SNPs_15024 2 Benign not provided RCV000422908.1
3875 chrX 107909790 107909790 1 + T G rs61735627 107909782 + 107909762 107909802 41 GCGAAAAAGGCAAACCCGGTCAAGATGGTATTCCTGGACCA GCGAAAAAGGCAAACCCGGTCAAGATGGGATTCCTGGACCA < 41bp 1 0.770104029589891 1 0.787156164646149 experiment 0.459791940820218 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control COL4A5 ENSG00000188153 CDS Human protein_coding chrX:107909782 chrX:107909790 synonymous SNV . 0 29 hm5C_associated_SNPs_15025 1 Benign not specified RCV000250286.1
3875 chrX 123046787 123046787 1 + C T rs149254603 123046781 + 123046761 123046801 41 GCTGGGATTACAGGCGTGAGCCACCACGGCCGGCTAATTTT GCTGGGATTACAGGCGTGAGCCACCATGGCCGGCTAATTTT < 41bp 1 0.58777845003217 1 0.113993018865585 experiment 0.824443099935661 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control XIAP ENSG00000101966 UTR3 Human protein_coding chrX:123046781 chrX:123046787 . . 0 27 hm5C_associated_SNPs_15028 1 Benign Lymphoproliferative syndrome RCV000290711.1
3875 chrX 128695228 128695228 1 + G A rs138260625 128695224 + 128695204 128695244 41 TGTGAAGGAACAAGAATGGTCCATGGCTGTAGAGAGAGGTT TGTGAAGGAACAAGAATGGTCCATAGCTGTAGAGAGAGGTT < 41bp 1 0.130548622459759 1 0.0388039350509644 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control OCRL ENSG00000122126 CDS Human protein_coding chrX:128695224 chrX:128695228 nonsynonymous SNV 0.999 0 25 hm5C_associated_SNPs_15030 2 Uncertain significance not provided RCV000117868.1
3875 chrX 128695228 128695228 1 + G A rs138260625 128695224 + 128695204 128695244 41 TGTGAAGGAACAAGAATGGTCCATGGCTGTAGAGAGAGGTT TGTGAAGGAACAAGAATGGTCCATAGCTGTAGAGAGAGGTT < 41bp 1 0.130548622459759 1 0.0388039350509644 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control OCRL ENSG00000122126 CDS Human protein_coding chrX:128695224 chrX:128695228 nonsynonymous SNV 0.999 0 25 hm5C_associated_SNPs_15030 2 Benign not specified RCV000261174.1
3875 chrX 129149417 129149417 1 + G A rs201843717 129149429 + 129149409 129149449 41 GCAACCACGGCCTGGGGGCTCCTTCGTTCCAGAGCAGGACC GCAACCACAGCCTGGGGGCTCCTTCGTTCCAGAGCAGGACC < 41bp 1 0.0207804451983159 1 0.145901262760162 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control BCORL1 ENSG00000085185 CDS Human protein_coding chrX:129149429 chrX:129149417 nonsynonymous SNV 1.000 3 9 hm5C_associated_SNPs_15032 1 Uncertain significance not specified RCV000369096.1
3875 chrX 135067814 135067814 1 + A G rs782090744 135067817 + 135067797 135067837 41 GGCGGCGGAGAGGCTAGAGCCATGGACGAGGAGATCGTGTC GGCGGCGGAGAGGCTAGGGCCATGGACGAGGAGATCGTGTC < 41bp 1 0.645595124476043 1 0.715415716171265 experiment 0.708809751047915 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SLC9A6 ENSG00000198689 CDS Human protein_coding chrX:135067817 chrX:135067814 synonymous SNV . 0 18 hm5C_associated_SNPs_15040 1 Likely benign not specified RCV000419289.1
3875 chrX 152954116 152954116 1 + G A rs782373793 152954118 + 152954098 152954138 41 CGCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCC CGCGCCCGGGCCCGACGGAGCCCCGGCCAAGGGCGACGGCC < 41bp 1 0.419936112431863 1 0.252965152263641 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC6A8 ENSG00000130821 CDS Human protein_coding chrX:152954118 chrX:152954116 synonymous SNV . 0 19 hm5C_associated_SNPs_15051 1 Likely benign not specified RCV000193555.1
3875 chrX 152954116 152954116 1 + G A rs782373793 152954119 + 152954099 152954139 41 GCGCCCGGGCCCGACGGGGCCCCGGCCAAGGGCGACGGCCC GCGCCCGGGCCCGACGGAGCCCCGGCCAAGGGCGACGGCCC < 41bp 1 0.682537941725131 1 0.315885692834854 experiment 0.634924116549738 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SLC6A8 ENSG00000130821 CDS Human protein_coding chrX:152954119 chrX:152954116 synonymous SNV . 0 18 hm5C_associated_SNPs_15052 1 Likely benign not specified RCV000193555.1
3875 chrX 154005148 154005148 1 + G A rs1800533 154005135 + 154005115 154005155 41 AAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGGCCACTTG AAAAGAGGTAGAATTGGTTTCTGAGTAGTGAAGACCACTTG < 41bp 1 0.623513504554779 1 0.412526071071625 experiment 0.752972990890441 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout DKC1 ENSG00000130826 UTR3 Human protein_coding chrX:154005135 chrX:154005148 . . 0 34 hm5C_associated_SNPs_15077 1 Benign not specified RCV000153152.4
3875 chr7 94057038 94057038 1 + C T BLCA 94057027 + 94057007 94057047 41 CGATGGAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCAC CGATGGAGACTTCTACAGGGCTGACCAGCCTTGCTCAGCAC < 41bp 1 0.131998490724217 1 0.0281738638877869 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057027 chr7:94057038 nonsynonymous SNV 1.000 5 32 hm5C_associated_SNPs_15587 1 Uncertain significance not specified RCV000498508.1
3875 chr7 94057038 94057038 1 + C T BLCA 94057032 + 94057012 94057052 41 GAGACTTCTACAGGGCTGACCAGCCTCGCTCAGCACCTTCT GAGACTTCTACAGGGCTGACCAGCCTTGCTCAGCACCTTCT < 41bp 1 0.154326988252017 1 0.300578534603119 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057032 chr7:94057038 nonsynonymous SNV 1.000 5 27 hm5C_associated_SNPs_15588 1 Uncertain significance not specified RCV000498508.1
3875 chr7 21631027 21631027 1 + C T BLCA 21631019 + 21630999 21631039 41 AGCACAGAGTTGAGCGCACACAGAAAAACGTGAAGGTGATC AGCACAGAGTTGAGCGCACACAGAAAAATGTGAAGGTGATC < 41bp 1 0.532268062788214 1 0.414564609527588 experiment 0.935463874423571 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DNAH11 ENSG00000105877 CDS Human protein_coding chr7:21631019 chr7:21631027 synonymous SNV . 0 29 hm5C_associated_SNPs_15674 1 Uncertain significance Primary ciliary dyskinesia RCV000366197.1
3875 chr4 56230312 56230312 1 + G A BLCA 56230318 + 56230298 56230338 41 TACGAAGACTCTTCGAGTGCCTCTACGTCAGTGTCTTCTCC TACGAAGACTCTTCAAGTGCCTCTACGTCAGTGTCTTCTCC < 41bp 1 0.507874137293578 1 0.134117424488068 experiment 0.984251725412844 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control|31358969;GSE133672;RNA-BisSeq;T24;Control SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56230318 chr4:56230312 nonsynonymous SNV 0.656 4 15 hm5C_associated_SNPs_16062 1 Likely pathogenic not provided RCV000482809.1
3875 chr6 26091192 26091192 1 + G T BLCA 26091207 + 26091187 26091227 41 TCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAA TCGCCTTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAA < 41bp 1 0.785263348331895 1 0.929043054580688 experiment 0.429473303336211 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control HFE ENSG00000010704 CDS Human protein_coding chr6:26091207 chr6:26091192 nonsynonymous SNV 0.723 0 6 hm5C_associated_SNPs_16247 1 Uncertain significance Hemochromatosis type 1 RCV000208335.1
3875 chr20 44526704 44526704 1 + G A BLCA 44526703 + 44526683 44526723 41 GACAGCGGGGAGCAGATTGCCGGCTTCGTGAAGGAGTTCTC GACAGCGGGGAGCAGATTGCCAGCTTCGTGAAGGAGTTCTC < 41bp 1 0.65196425486132 1 0.739144325256348 experiment 0.696071490277359 Functional Loss 31061524;GSE122261;BS-seq with improved protocol;Hela;Control CTSA ENSG00000064601 CDS Human protein_coding chr20:44526703 chr20:44526704 nonsynonymous SNV 0.366 5 22 hm5C_associated_SNPs_16351 1 Pathogenic Galactosialidosis, early infantile RCV000000416.3
3875 chr6 7566637 7566637 1 + G C BLCA 7566648 + 7566628 7566668 41 GAAGTTAAAGAAAAAGAGCTCAATAAGCTGAAACAAGAAAG GAAGTTAAACAAAAAGAGCTCAATAAGCTGAAACAAGAAAG < 41bp 1 0.143717568459191 1 0.174824416637421 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7566648 chr6:7566637 nonsynonymous SNV 1.000 5 10 hm5C_associated_SNPs_16371 1 Uncertain significance not specified RCV000434123.1
3875 chr13 48936983 48936983 1 + C T BLCA 48936995 + 48936975 48937015 41 GTTCACCTCGAACACCCAGGCGAGGTCAGAACAGGAGTGCA GTTCACCTTGAACACCCAGGCGAGGTCAGAACAGGAGTGCA < 41bp 1 0.641271483930132 1 0.854509949684143 experiment 0.717457032139735 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control RB1 ENSG00000139687 CDS Human protein_coding chr13:48936995 chr13:48936983 stopgain 1.000 1 9 hm5C_associated_SNPs_16391 1 Pathogenic Hereditary cancer-predisposing syndrome RCV000492399.1
3875 chr21 47754527 47754527 1 + A G BLCA 47754537 + 47754517 47754557 41 GTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGT GTTCACAGTCGGTGACCACCCACCAGAACAGCGTGGGATGT < 41bp 1 0.677413202309958 1 0.42102986574173 experiment 0.645173595380083 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47754537 chr21:47754527 nonsynonymous SNV 0.006 0 11 hm5C_associated_SNPs_16739 1 Uncertain significance not specified RCV000503706.1
3875 chr1 156105709 156105709 1 + G A BLCA 156105689 + 156105669 156105709 41 CAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCG CAAACCCTCCCACCCCCCTTCAGCTGGCAGCCAAGGAGGCA < 41bp 1 0.162776418885243 1 0.394623577594757 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156105689 chr1:156105709 synonymous SNV . 0 41 hm5C_associated_SNPs_16767 1 Likely benign not specified RCV000041380.2
3875 chr1 156105709 156105709 1 + G A BLCA 156105721 + 156105701 156105741 41 AAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCG AAGGAGGCAAAGCTTCGAGACCTGGAGGACTCACTGGCCCG < 41bp 1 0.310599239213209 1 0.34722051024437 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156105721 chr1:156105709 synonymous SNV . 0 9 hm5C_associated_SNPs_16768 1 Likely benign not specified RCV000041380.2
3875 chr10 118314780 118314780 1 + C T BLCA 118314776 + 118314756 118314796 41 CCAAATTTGTGGATGTAATTCACACGGATGGTGCCCCCATA CCAAATTTGTGGATGTAATTCACATGGATGGTGCCCCCATA < 41bp 1 0.719080763127447 1 0.383551508188248 experiment 0.561838473745107 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314776 chr10:118314780 nonsynonymous SNV 0.919 5 25 hm5C_associated_SNPs_16851 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314778 + 118314758 118314798 41 AAATTTGTGGATGTAATTCACACGGATGGTGCCCCCATAGT AAATTTGTGGATGTAATTCACATGGATGGTGCCCCCATAGT < 41bp 1 0.715028609575942 1 0.25628399848938 experiment 0.569942780848115 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314778 chr10:118314780 nonsynonymous SNV 0.919 5 23 hm5C_associated_SNPs_16852 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314789 + 118314769 118314809 41 TGTAATTCACACGGATGGTGCCCCCATAGTCCCCAATTTGG TGTAATTCACATGGATGGTGCCCCCATAGTCCCCAATTTGG < 41bp 1 0.119792470305681 1 0.0291683673858643 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314789 chr10:118314780 nonsynonymous SNV 0.919 5 12 hm5C_associated_SNPs_16853 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314790 + 118314770 118314810 41 GTAATTCACACGGATGGTGCCCCCATAGTCCCCAATTTGGG GTAATTCACATGGATGGTGCCCCCATAGTCCCCAATTTGGG < 41bp 1 0.511876618652681 1 0.101791381835938 experiment 0.976246762694638 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314790 chr10:118314780 nonsynonymous SNV 0.919 5 11 hm5C_associated_SNPs_16854 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314791 + 118314771 118314811 41 TAATTCACACGGATGGTGCCCCCATAGTCCCCAATTTGGGT TAATTCACATGGATGGTGCCCCCATAGTCCCCAATTTGGGT < 41bp 1 0.110241680129692 1 0.0577452778816223 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314791 chr10:118314780 nonsynonymous SNV 0.919 5 10 hm5C_associated_SNPs_16855 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314792 + 118314772 118314812 41 AATTCACACGGATGGTGCCCCCATAGTCCCCAATTTGGGTG AATTCACATGGATGGTGCCCCCATAGTCCCCAATTTGGGTG < 41bp 1 0.37325581942458 1 0.145056307315826 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314792 chr10:118314780 nonsynonymous SNV 0.919 5 9 hm5C_associated_SNPs_16856 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314793 + 118314773 118314813 41 ATTCACACGGATGGTGCCCCCATAGTCCCCAATTTGGGTGA ATTCACATGGATGGTGCCCCCATAGTCCCCAATTTGGGTGA < 41bp 1 0.585443567728676 1 0.344511568546295 experiment 0.829112864542648 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314793 chr10:118314780 nonsynonymous SNV 0.919 5 8 hm5C_associated_SNPs_16857 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314799 + 118314779 118314819 41 ACGGATGGTGCCCCCATAGTCCCCAATTTGGGTGAGTTCCT ATGGATGGTGCCCCCATAGTCCCCAATTTGGGTGAGTTCCT < 41bp 1 0.704670797723826 1 0.187662273645401 experiment 0.590658404552348 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314799 chr10:118314780 nonsynonymous SNV 0.919 5 2 hm5C_associated_SNPs_16858 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr10 118314780 118314780 1 + C T BLCA 118314800 + 118314780 118314820 41 CGGATGGTGCCCCCATAGTCCCCAATTTGGGTGAGTTCCTC TGGATGGTGCCCCCATAGTCCCCAATTTGGGTGAGTTCCTC < 41bp 1 0.583851485050352 1 0.12281060218811 experiment 0.832297029899296 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PNLIP ENSG00000175535 CDS Human protein_coding chr10:118314800 chr10:118314780 nonsynonymous SNV 0.919 5 1 hm5C_associated_SNPs_16859 1 Pathogenic Pancreatic lipase deficiency RCV000490560.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459774 + 142459754 142459794 41 AATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGT AATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCATGT < 41bp 1 0.690933133599853 1 0.0701250731945038 experiment 0.618133732800294 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459774 chr7:142459791 nonsynonymous SNV 0.004 5 38 hm5C_associated_SNPs_17044 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459781 + 142459761 142459801 41 CTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCAT CTCTCCTCACGTGCAGTAATCAACGCCCGCATGTCCACCAT < 41bp 1 0.723982767001492 1 0.792762398719788 experiment 0.552034465997016 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459781 chr7:142459791 nonsynonymous SNV 0.004 5 31 hm5C_associated_SNPs_17045 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459784 + 142459764 142459804 41 TCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTC TCCTCACGTGCAGTAATCAACGCCCGCATGTCCACCATCTC < 41bp 1 0.58618398139005 1 0.284915864467621 experiment 0.8276320372199 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459784 chr7:142459791 nonsynonymous SNV 0.004 5 28 hm5C_associated_SNPs_17046 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459786 + 142459766 142459806 41 CTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTC CTCACGTGCAGTAATCAACGCCCGCATGTCCACCATCTCTC < 41bp 1 0.455019081791023 1 0.064426064491272 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459786 chr7:142459791 nonsynonymous SNV 0.004 5 26 hm5C_associated_SNPs_17047 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459787 + 142459767 142459807 41 TCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCT TCACGTGCAGTAATCAACGCCCGCATGTCCACCATCTCTCT < 41bp 1 0.616737135578041 1 0.0484356880187988 experiment 0.766525728843919 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459787 chr7:142459791 nonsynonymous SNV 0.004 5 25 hm5C_associated_SNPs_17048 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459788 + 142459768 142459808 41 CACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTG CACGTGCAGTAATCAACGCCCGCATGTCCACCATCTCTCTG < 41bp 1 0.560578009731791 1 0.0170938670635223 experiment 0.878843980536418 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459788 chr7:142459791 nonsynonymous SNV 0.004 5 24 hm5C_associated_SNPs_17049 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459790 + 142459770 142459810 41 CGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCC CGTGCAGTAATCAACGCCCGCATGTCCACCATCTCTCTGCC < 41bp 1 0.420685603756479 1 0.0465171039104462 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459790 chr7:142459791 nonsynonymous SNV 0.004 5 22 hm5C_associated_SNPs_17050 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459795 + 142459775 142459815 41 AGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCG AGTAATCAACGCCCGCATGTCCACCATCTCTCTGCCCACCG < 41bp 1 0.394175303788203 1 0.0925235450267792 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459795 chr7:142459791 nonsynonymous SNV 0.004 5 17 hm5C_associated_SNPs_17051 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459798 + 142459778 142459818 41 AATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCC AATCAACGCCCGCATGTCCACCATCTCTCTGCCCACCGCCC < 41bp 1 0.162528395312808 1 0.0353191196918488 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459798 chr7:142459791 nonsynonymous SNV 0.004 5 14 hm5C_associated_SNPs_17052 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459799 + 142459779 142459819 41 ATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCC ATCAACGCCCGCATGTCCACCATCTCTCTGCCCACCGCCCC < 41bp 1 0.374858634774109 1 0.124049872159958 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459799 chr7:142459791 nonsynonymous SNV 0.004 5 13 hm5C_associated_SNPs_17053 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459802 + 142459782 142459822 41 AACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCC AACGCCCGCATGTCCACCATCTCTCTGCCCACCGCCCCTCC < 41bp 1 0.426694279663449 1 0.142105728387833 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459802 chr7:142459791 nonsynonymous SNV 0.004 5 10 hm5C_associated_SNPs_17054 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459804 + 142459784 142459824 41 CGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAG CGCCCGCATGTCCACCATCTCTCTGCCCACCGCCCCTCCAG < 41bp 1 0.652737921906755 1 0.162465125322342 experiment 0.69452415618649 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459804 chr7:142459791 nonsynonymous SNV 0.004 5 8 hm5C_associated_SNPs_17055 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459806 + 142459786 142459826 41 CCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCC CCCGCATGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCC < 41bp 1 0.612261304201641 1 0.433775186538696 experiment 0.775477391596719 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459806 chr7:142459791 nonsynonymous SNV 0.004 5 6 hm5C_associated_SNPs_17056 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459809 + 142459789 142459829 41 GCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACT GCATGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACT < 41bp 1 0.159668803018253 1 0.0248436629772186 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459809 chr7:142459791 nonsynonymous SNV 0.004 5 3 hm5C_associated_SNPs_17057 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459810 + 142459790 142459830 41 CGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTG CATGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTG < 41bp 1 0.19351531392433 1 0.0580365061759949 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459810 chr7:142459791 nonsynonymous SNV 0.004 5 2 hm5C_associated_SNPs_17058 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr7 142459791 142459791 1 + G A BLCA 142459811 + 142459791 142459831 41 GTGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTGG ATGTCCACCATCTCTCTGCCCACCGCCCCTCCAGCCACTGG < 41bp 1 0.667650418015886 1 0.036198616027832 experiment 0.664699163968228 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459811 chr7:142459791 nonsynonymous SNV 0.004 5 1 hm5C_associated_SNPs_17059 1 Uncertain significance Hereditary pancreatitis RCV000458624.1
3875 chr2 242695381 242695381 1 + G A BRCA 242695362 + 242695342 242695382 41 CCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCGC CCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCAC < 41bp 1 0.562835809189857 1 0.168179124593735 experiment 0.874328381620285 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control D2HGDH ENSG00000180902 CDS Human protein_coding chr2:242695362 chr2:242695381 nonsynonymous SNV 0.001 1 40 hm5C_associated_SNPs_17322 3 Uncertain significance D-2-hydroxyglutaric aciduria 1 RCV000145790.1
3875 chr2 242695381 242695381 1 + G A BRCA 242695362 + 242695342 242695382 41 CCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCGC CCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCAC < 41bp 1 0.562835809189857 1 0.168179124593735 experiment 0.874328381620285 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control D2HGDH ENSG00000180902 CDS Human protein_coding chr2:242695362 chr2:242695381 nonsynonymous SNV 0.001 1 40 hm5C_associated_SNPs_17322 3 Uncertain significance D-2-hydroxyglutaric aciduria RCV000318883.1
3875 chr2 242695381 242695381 1 + G A BRCA 242695362 + 242695342 242695382 41 CCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCGC CCTGTGGAGCGGCTCTACGACATCGTGACTGACCTGCGCAC < 41bp 1 0.562835809189857 1 0.168179124593735 experiment 0.874328381620285 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control D2HGDH ENSG00000180902 CDS Human protein_coding chr2:242695362 chr2:242695381 nonsynonymous SNV 0.001 1 40 hm5C_associated_SNPs_17322 3 Likely benign not specified RCV000499723.1
3875 chr15 75190052 75190052 1 + G A BRCA 75190039 + 75190019 75190059 41 AGCTTACTGAGCCGAAGGACCTGCTGATATTCCGTGCCTGC AGCTTACTGAGCCGAAGGACCTGCTGATATTCCATGCCTGC < 41bp 1 0.577445493032693 1 0.183769911527634 experiment 0.845109013934614 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MPI ENSG00000178802 CDS Human protein_coding chr15:75190039 chr15:75190052 nonsynonymous SNV 0.996 5 34 hm5C_associated_SNPs_17494 1 Pathogenic Congenital disorder of glycosylation type 1B RCV000202324.1
3875 chr5 36985782 36985782 1 + C T BRCA 36985791 + 36985771 36985811 41 CAGAGCGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCA CAGAGCGACATTGAGGGGATCAGTCTAGGGTTCGAAGACCA < 41bp 1 0.116149448419462 1 0.0334883332252502 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NIPBL ENSG00000164190 CDS Human protein_coding chr5:36985791 chr5:36985782 stopgain 0.996 1 12 hm5C_associated_SNPs_17507 1 Pathogenic Cornelia de Lange syndrome 1 RCV000146550.1
3875 chr5 112176277 112176277 1 + C T CESC 112176287 + 112176267 112176307 41 ATCTAACAATCGAATCCCCTCCAAATGAGTTAGCTGCTGGA ATCTAACAATTGAATCCCCTCCAAATGAGTTAGCTGCTGGA < 41bp 1 0.113107216474515 1 0.536866068840027 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control APC ENSG00000134982 CDS Human protein_coding chr5:112176287 chr5:112176277 synonymous SNV . 0 11 hm5C_associated_SNPs_18100 1 Likely benign Hereditary cancer-predisposing syndrome RCV000215035.1
3875 chr17 40695717 40695717 1 + C T CESC 40695702 + 40695682 40695722 41 GCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAG GCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAG < 41bp 1 0.432575690303667 1 0.339522659778595 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control NAGLU ENSG00000108784 CDS Human protein_coding chr17:40695702 chr17:40695717 nonsynonymous SNV 0.819 5 36 hm5C_associated_SNPs_18267 2 Pathogenic Mucopolysaccharidosis, MPS-III-B RCV000001633.4
3875 chr17 40695717 40695717 1 + C T CESC 40695702 + 40695682 40695722 41 GCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTCGGCAG GCCCCGCCTTCCGCTACGACCTGCTGGACCTCACTTGGCAG < 41bp 1 0.432575690303667 1 0.339522659778595 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control NAGLU ENSG00000108784 CDS Human protein_coding chr17:40695702 chr17:40695717 nonsynonymous SNV 0.819 5 36 hm5C_associated_SNPs_18267 2 Pathogenic Sanfilippo syndrome RCV000265203.1
3875 chr16 15788044 15788044 1 + G A CESC 15788047 + 15788027 15788067 41 GACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCCCG GACGACTCCACCGGGGGAACCCCCCTCACACCTGCGGCCCG < 41bp 1 0.25535243024024 1 0.197886824607849 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788047 chr16:15788044 synonymous SNV . 0 18 hm5C_associated_SNPs_18500 1 Likely benign not specified RCV000146497.1
3875 chrX 135291510 135291510 1 + G A CESC 135291501 + 135291481 135291521 41 TCTCACCCTGTTTCCCAGCGCCAACCTCCGGGGCAGGCATC TCTCACCCTGTTTCCCAGCGCCAACCTCCAGGGCAGGCATC < 41bp 1 0.0735975453163849 1 0.145043253898621 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control FHL1 ENSG00000022267 CDS Human protein_coding chrX:135291501 chrX:135291510 nonsynonymous SNV 1.000 3 30 hm5C_associated_SNPs_18725 1 Uncertain significance not specified RCV000420669.1
3875 chrX 135291510 135291510 1 + G A CESC 135291502 + 135291482 135291522 41 CTCACCCTGTTTCCCAGCGCCAACCTCCGGGGCAGGCATCC CTCACCCTGTTTCCCAGCGCCAACCTCCAGGGCAGGCATCC < 41bp 1 0.179579859714858 1 0.0411967933177948 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control FHL1 ENSG00000022267 CDS Human protein_coding chrX:135291502 chrX:135291510 nonsynonymous SNV 1.000 3 29 hm5C_associated_SNPs_18726 1 Uncertain significance not specified RCV000420669.1
3875 chr12 31242081 31242081 1 + G A CHOL 31242078 + 31242058 31242098 41 TCGGCTGGTCTCCCTTGGCTCCCGGCAGGTAAACAGTAGCC TCGGCTGGTCTCCCTTGGCTCCCAGCAGGTAAACAGTAGCC < 41bp 1 0.29517479364466 1 0.110836625099182 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control DDX11 ENSG00000013573 CDS Human protein_coding chr12:31242078 chr12:31242081 nonsynonymous SNV 0.439 3 24 hm5C_associated_SNPs_19054 1 Pathogenic Warsaw breakage syndrome RCV000033122.4
3875 chr10 75871773 75871773 1 + C G COAD 75871762 + 75871742 75871782 41 GTCCCCCCTGACATGGAAGACGATTACGAACCTGAGCTGCT GTCCCCCCTGACATGGAAGACGATTACGAACGTGAGCTGCT < 41bp 1 0.0978466366300264 1 0.143677294254303 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control VCL ENSG00000035403 CDS Human protein_coding chr10:75871762 chr10:75871773 nonsynonymous SNV 1.000 2 32 hm5C_associated_SNPs_19267 1 other not specified RCV000038818.2
3875 chr21 47842021 47842021 1 + C T COAD 47842001 + 47841981 47842021 41 GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGC GTTTCAGCCGCTGCCGGAAGCCATGAAGGAGAAGGAAGTGT < 41bp 1 0.0476674001819257 1 0.396171808242798 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47842001 chr21:47842021 nonsynonymous SNV 0.003 0 41 hm5C_associated_SNPs_19289 1 Likely benign not specified RCV000434820.1
3875 chr11 95546134 95546134 1 + C T COAD 95546139 + 95546119 95546159 41 CTTCAAGATAAGATTCGACGCTTGGAACTTGAGAGGATTCA CTTCAAGATAAGATTTGACGCTTGGAACTTGAGAGGATTCA < 41bp 1 0.459065593193087 1 0.0649937689304352 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CEP57 ENSG00000166037 CDS Human protein_coding chr11:95546139 chr11:95546134 stopgain 1.000 1 16 hm5C_associated_SNPs_19421 1 Pathogenic Mosaic variegated aneuploidy syndrome 2 RCV000023670.2
3875 chr2 224824384 224824384 1 + C T COAD 224824387 + 224824367 224824407 41 AAAGTGAGGAGGCCAAACGCCAACAACTTGGGATAGAGAAA AAAGTGAGGAGGCCAAATGCCAACAACTTGGGATAGAGAAA < 41bp 1 0.670905694054055 1 0.368696302175522 experiment 0.65818861189189 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MRPL44 ENSG00000135900 CDS Human protein_coding chr2:224824387 chr2:224824384 nonsynonymous SNV 0.482 4 18 hm5C_associated_SNPs_19520 1 Likely pathogenic not provided RCV000196498.2
3875 chr19 50912138 50912138 1 + C T COAD 50912125 + 50912105 50912145 41 CCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTG CCACAACCTGTGTTACACCACGCTCCTTCGGCCTGGGACTG < 41bp 1 0.180685071619708 1 0.0387570858001709 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912125 chr19:50912138 synonymous SNV . 0 34 hm5C_associated_SNPs_19582 2 Likely benign not specified RCV000435295.1
3875 chr19 50912138 50912138 1 + C T COAD 50912125 + 50912105 50912145 41 CCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTG CCACAACCTGTGTTACACCACGCTCCTTCGGCCTGGGACTG < 41bp 1 0.180685071619708 1 0.0387570858001709 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912125 chr19:50912138 synonymous SNV . 0 34 hm5C_associated_SNPs_19582 2 Likely benign Colorectal cancer 10 RCV000467042.1
3875 chr14 90867640 90867640 1 + C T COAD 90867648 + 90867628 90867668 41 TGATAAAGATGGCGATGGCACCATCACAACAAAGGAACTTG TGATAAAGATGGTGATGGCACCATCACAACAAAGGAACTTG < 41bp 1 0.0675624595270005 1 0.0989518761634827 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CALM1 ENSG00000198668 CDS Human protein_coding chr14:90867648 chr14:90867640 synonymous SNV . 0 13 hm5C_associated_SNPs_19626 1 Benign not provided RCV000149485.1
3875 chr14 90867640 90867640 1 + C T COAD 90867649 + 90867629 90867669 41 GATAAAGATGGCGATGGCACCATCACAACAAAGGAACTTGG GATAAAGATGGTGATGGCACCATCACAACAAAGGAACTTGG < 41bp 1 0.436883489435176 1 0.382104426622391 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CALM1 ENSG00000198668 CDS Human protein_coding chr14:90867649 chr14:90867640 synonymous SNV . 0 12 hm5C_associated_SNPs_19627 1 Benign not provided RCV000149485.1
3875 chr16 30750658 30750658 1 + C T COAD 30750662 + 30750642 30750682 41 TGGACTTAGCAGATAGCGGGCCAGGCGGGTTGGAATTGACA TGGACTTAGCAGATAGTGGGCCAGGCGGGTTGGAATTGACA < 41bp 1 0.215045905653881 1 0.159493446350098 experiment 1 Functional Loss 31061524;GSE122264;BS-seq with improved protocol;Heart;Control SRCAP ENSG00000080603 CDS Human protein_coding chr16:30750662 chr16:30750658 synonymous SNV . 0 17 hm5C_associated_SNPs_20160 1 Uncertain significance Floating-Harbor syndrome RCV000371630.1
3875 chr16 30750658 30750658 1 + C T COAD 30750663 + 30750643 30750683 41 GGACTTAGCAGATAGCGGGCCAGGCGGGTTGGAATTGACAC GGACTTAGCAGATAGTGGGCCAGGCGGGTTGGAATTGACAC < 41bp 1 0.381690908119753 1 0.476254969835281 experiment 1 Functional Loss 31061524;GSE122264;BS-seq with improved protocol;Heart;Control SRCAP ENSG00000080603 CDS Human protein_coding chr16:30750663 chr16:30750658 synonymous SNV . 0 16 hm5C_associated_SNPs_20161 1 Uncertain significance Floating-Harbor syndrome RCV000371630.1
3875 chr10 43604481 43604481 1 + C T COAD 43604501 + 43604481 43604521 41 CTGGTTCTCAACCGGAACCTCTCCATCTCGGAGAACCGCAC TTGGTTCTCAACCGGAACCTCTCCATCTCGGAGAACCGCAC < 41bp 1 0.658229472227978 1 0.954377830028534 experiment 0.683541055544044 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control RET ENSG00000165731 CDS Human protein_coding chr10:43604501 chr10:43604481 synonymous SNV . 0 1 hm5C_associated_SNPs_20173 1 Likely benign Hereditary cancer-predisposing syndrome RCV000218715.1
3875 chr2 220149398 220149398 1 + G A COAD 220149415 + 220149395 220149435 41 CGCGAGCAGCAGCCGTCAGTCACTTCCAGGTCTGGGGGCAC CGCAAGCAGCAGCCGTCAGTCACTTCCAGGTCTGGGGGCAC < 41bp 1 0.472967662138611 1 0.470569103956223 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control DNAJB2 ENSG00000135924 CDS Human protein_coding chr2:220149415 chr2:220149398 nonsynonymous SNV 0.999 1 4 hm5C_associated_SNPs_20431 1 Uncertain significance not specified RCV000235962.1
3875 chr9 71842728 71842728 1 + C T COAD 71842734 + 71842714 71842754 41 CTCCAGAGGAGAGACGTCATCAGTATTCTGATTATGATTAT CTCCAGAGGAGAGATGTCATCAGTATTCTGATTATGATTAT < 41bp 1 0.608040590058577 1 0.534609854221344 experiment 0.783918819882845 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control TJP2 ENSG00000119139 CDS Human protein_coding chr9:71842734 chr9:71842728 nonsynonymous SNV 0.997 3 15 hm5C_associated_SNPs_20557 1 Uncertain significance not specified RCV000155291.1
3875 chr5 36985803 36985803 1 + C T COAD 36985791 + 36985771 36985811 41 CAGAGCGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCA CAGAGCGACATCGAGGGGATCAGTCTAGGGTTTGAAGACCA < 41bp 1 0.141468890525943 1 0.0896184742450714 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NIPBL ENSG00000164190 CDS Human protein_coding chr5:36985791 chr5:36985803 stopgain 1.000 0 33 hm5C_associated_SNPs_20590 1 Pathogenic Cornelia de Lange syndrome 1 RCV000192908.1
3875 chr1 97771751 97771751 1 + C T COAD 97771744 - 97771724 97771764 41 TATTGTGAGCATCGCAAGAGCTGCAAAGGAAGGTAAGAACT TATTGTGAGCATCACAAGAGCTGCAAAGGAAGGTAAGAACT < 41bp 1 0.571359574365244 1 0.310385942459106 experiment 0.857280851269512 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control DPYD ENSG00000188641 CDS Human protein_coding chr1:97771744 chr1:97771751 nonsynonymous SNV 0.999 4 14 hm5C_associated_SNPs_20781 1 not provided not provided RCV000086464.1
3875 chr7 4824629 4824629 1 + G A COAD 4824610 + 4824590 4824630 41 CCTCTGCCGGCCGCCTGCTGCCGCCCCGGGAGCGGCTTCGG CCTCTGCCGGCCGCCTGCTGCCGCCCCGGGAGCGGCTTCAG < 41bp 1 0.180158061336505 1 0.217550188302994 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control AP5Z1 ENSG00000242802 CDS Human protein_coding chr7:4824610 chr7:4824629 nonsynonymous SNV 0.998 3 40 hm5C_associated_SNPs_21038 2 Uncertain significance Spastic Paraplegia, Recessive RCV000373075.1
3875 chr7 4824629 4824629 1 + G A COAD 4824610 + 4824590 4824630 41 CCTCTGCCGGCCGCCTGCTGCCGCCCCGGGAGCGGCTTCGG CCTCTGCCGGCCGCCTGCTGCCGCCCCGGGAGCGGCTTCAG < 41bp 1 0.180158061336505 1 0.217550188302994 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control AP5Z1 ENSG00000242802 CDS Human protein_coding chr7:4824610 chr7:4824629 nonsynonymous SNV 0.998 3 40 hm5C_associated_SNPs_21038 2 Benign Spastic paraplegia 48, autosomal recessive RCV000460027.1
3875 chr1 45973941 45973941 1 + C T COAD 45973929 + 45973909 45973949 41 TCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAG TCATTGCTGACTACGAGGTGCACCCCAACCGATGCCCCAAG < 41bp 1 0.232376257133707 1 0.048687607049942 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MMACHC ENSG00000132763 CDS Human protein_coding chr1:45973929 chr1:45973941 nonsynonymous SNV 0.977 5 33 hm5C_associated_SNPs_21112 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000359909.1
3875 chr1 162492294 162492294 1 + C T COAD 162492304 + 162492284 162492324 41 ACATTCTACCCGCTGAGTGCCTACAAGAGGGGATATCTGTA ACATTCTACCTGCTGAGTGCCTACAAGAGGGGATATCTGTA < 41bp 1 0.523669099738704 1 0.791084825992584 experiment 0.952661800522592 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control UHMK1 ENSG00000152332 CDS Human protein_coding chr1:162492304 chr1:162492294 nonsynonymous SNV 0.999 4 11 hm5C_associated_SNPs_21188 1 Likely pathogenic Cerebral visual impairment and intellectual disability RCV000210385.1
3875 chr2 189873899 189873899 1 + G A COAD 189873898 + 189873878 189873918 41 GATGGTTCTCGTAAAAACCCCGCTAGAAACTGCAGAGACCT GATGGTTCTCGTAAAAACCCCACTAGAAACTGCAGAGACCT < 41bp 1 0.273667977787477 1 0.174733579158783 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189873898 chr2:189873899 nonsynonymous SNV 0.997 4 22 hm5C_associated_SNPs_21192 2 Uncertain significance Thoracic aortic aneurysm and aortic dissection RCV000251253.1
3875 chr2 189873899 189873899 1 + G A COAD 189873898 + 189873878 189873918 41 GATGGTTCTCGTAAAAACCCCGCTAGAAACTGCAGAGACCT GATGGTTCTCGTAAAAACCCCACTAGAAACTGCAGAGACCT < 41bp 1 0.273667977787477 1 0.174733579158783 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189873898 chr2:189873899 nonsynonymous SNV 0.997 4 22 hm5C_associated_SNPs_21192 2 Likely benign Ehlers-Danlos syndrome, type 4 RCV000321117.1
3875 chr14 102502958 102502958 1 + C T COAD 102502965 + 102502945 102502985 41 GTGCACTGAGATTCGGTAACCCCCTTCTGGTCCAGGTTGGT GTGCACTGAGATTTGGTAACCCCCTTCTGGTCCAGGTTGGT < 41bp 1 0.0362114391661291 1 0.0564897656440735 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102502965 chr14:102502958 synonymous SNV . 0 14 hm5C_associated_SNPs_21519 1 Uncertain significance not specified RCV000179190.1
3875 chr14 102502958 102502958 1 + C T COAD 102502967 + 102502947 102502987 41 GCACTGAGATTCGGTAACCCCCTTCTGGTCCAGGTTGGTGT GCACTGAGATTTGGTAACCCCCTTCTGGTCCAGGTTGGTGT < 41bp 1 0.00915632850289631 1 0.0286121666431427 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102502967 chr14:102502958 synonymous SNV . 0 12 hm5C_associated_SNPs_21520 1 Uncertain significance not specified RCV000179190.1
3875 chr19 10940902 10940902 1 + C T COAD 10940900 + 10940880 10940920 41 GGCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCC GGCCCCCCCTGATTCCTGTTCCTGTGGGGGCAGCAGCCTCC < 41bp 1 0.190906575899888 1 0.0740089118480682 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10940900 chr19:10940902 synonymous SNV . 0 23 hm5C_associated_SNPs_21653 1 Likely benign not specified RCV000252339.1
3875 chr19 10940902 10940902 1 + C T COAD 10940901 + 10940881 10940921 41 GCCCCCCCTGATTCCTGTTCCCGTGGGGGCAGCAGCCTCCT GCCCCCCCTGATTCCTGTTCCTGTGGGGGCAGCAGCCTCCT < 41bp 1 0.521939337925716 1 0.207538962364197 experiment 0.956121324148568 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10940901 chr19:10940902 synonymous SNV . 0 22 hm5C_associated_SNPs_21654 1 Likely benign not specified RCV000252339.1
3875 chr1 156105741 156105741 1 + G A COAD 156105721 + 156105701 156105741 41 AAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCG AAGGAGGCGAAGCTTCGAGACCTGGAGGACTCACTGGCCCA < 41bp 1 0.365890492655439 1 0.288898766040802 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156105721 chr1:156105741 nonsynonymous SNV 1.000 4 41 hm5C_associated_SNPs_21808 1 Uncertain significance not specified RCV000041377.2
3875 chr1 156105741 156105741 1 + G A COAD 156105730 + 156105710 156105750 41 AAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGA AAGCTTCGAGACCTGGAGGACTCACTGGCCCATGAGCGGGA < 41bp 1 0.278920808055111 1 0.168026775121689 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156105730 chr1:156105741 nonsynonymous SNV 1.000 4 32 hm5C_associated_SNPs_21809 1 Uncertain significance not specified RCV000041377.2
3875 chr19 50912814 50912814 1 + G A ESCA 50912807 + 50912787 50912827 41 AGCTGGCCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTG AGCTGGCCAAGGAGACAGACCCCCTCCAGCGCCAGGTCCTG < 41bp 1 0.159349317039599 1 0.0230896174907684 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912807 chr19:50912814 nonsynonymous SNV 0.993 2 28 hm5C_associated_SNPs_22193 1 Uncertain significance Colorectal cancer 10 RCV000468664.1
3875 chr19 50912814 50912814 1 + G A ESCA 50912813 + 50912793 50912833 41 CCAAGGAGACAGACCCCCTCCGGCGCCAGGTCCTGGATGGA CCAAGGAGACAGACCCCCTCCAGCGCCAGGTCCTGGATGGA < 41bp 1 0.426850790666138 1 0.649918854236603 experiment 1 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912813 chr19:50912814 nonsynonymous SNV 0.993 2 22 hm5C_associated_SNPs_22194 1 Uncertain significance Colorectal cancer 10 RCV000468664.1
3875 chr12 112910837 112910837 1 + C G GBM 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATATAAAAACATGCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.274193535909351 1 0.0906911790370941 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910837 nonsynonymous SNV 0.997 5 15 hm5C_associated_SNPs_22390 2 Pathogenic not provided RCV000033506.4
3875 chr12 112910837 112910837 1 + C G GBM 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATATAAAAACATGCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.274193535909351 1 0.0906911790370941 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910837 nonsynonymous SNV 0.997 5 15 hm5C_associated_SNPs_22390 2 Likely pathogenic Noonan syndrome RCV000037661.3
3875 chr16 57486775 57486775 1 + G A GBM 57486774 + 57486754 57486794 41 GTGAGGAGCAGTTGCAGCACCGCATCCTGACGGCAGCCCTT GTGAGGAGCAGTTGCAGCACCACATCCTGACGGCAGCCCTT < 41bp 1 0.555883455599327 1 0.815593719482422 experiment 0.888233088801346 Functional Loss 31061524;GSE122268;BS-seq with improved protocol;Spleen;Control COQ9 ENSG00000088682 CDS Human protein_coding chr16:57486774 chr16:57486775 nonsynonymous SNV 0.995 3 22 hm5C_associated_SNPs_22531 1 Uncertain significance Coenzyme Q10 deficiency, primary RCV000321251.1
3875 chr12 110032871 110032871 1 + C T GBM 110032880 + 110032860 110032900 41 CTGAATGCCCTCGGCGTGGGCCACGCCTCTCTGGACCAGCT CTGAATGCCCTTGGCGTGGGCCACGCCTCTCTGGACCAGCT < 41bp 1 0.160005014664271 1 0.116679489612579 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control MVK ENSG00000110921 CDS Human protein_coding chr12:110032880 chr12:110032871 synonymous SNV . 0 12 hm5C_associated_SNPs_22628 1 other not specified RCV000194317.3
3875 chr7 128486412 128486412 1 + G A GBM 128486405 + 128486385 128486425 41 AGGTCGCTGTGCCCAAGAGCCCCTTCCGAGTGGGCGTGACC AGGTCGCTGTGCCCAAGAGCCCCTTCCAAGTGGGCGTGACC < 41bp 1 0.0207994257200362 1 0.0403722822666168 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control FLNC ENSG00000128591 CDS Human protein_coding chr7:128486405 chr7:128486412 nonsynonymous SNV 0.991 3 28 hm5C_associated_SNPs_22733 1 other not specified RCV000176383.2
3875 chr5 36985783 36985783 1 + G A GBM 36985791 + 36985771 36985811 41 CAGAGCGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCA CAGAGCGACATCAAGGGGATCAGTCTAGGGTTCGAAGACCA < 41bp 1 0.110981464000963 1 0.0358218848705292 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NIPBL ENSG00000164190 CDS Human protein_coding chr5:36985791 chr5:36985783 nonsynonymous SNV 0.992 3 13 hm5C_associated_SNPs_22851 1 Uncertain significance Cornelia de Lange Syndrome RCV000323128.1
3875 chr3 39431077 39431077 1 + G A GBM 39431076 + 39431056 39431096 41 CTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCC CTCTGGATCTCCTTAAAACACACCTGCAAACCCTCCAGCCC < 41bp 1 0.767150517157046 1 0.0838597118854523 experiment 0.465698965685908 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431076 chr3:39431077 nonsynonymous SNV 0.987 4 22 hm5C_associated_SNPs_22891 2 Uncertain significance Refractory anemia with ringed sideroblasts (clinical) RCV000262660.1
3875 chr3 39431077 39431077 1 + G A GBM 39431076 + 39431056 39431096 41 CTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGCCC CTCTGGATCTCCTTAAAACACACCTGCAAACCCTCCAGCCC < 41bp 1 0.767150517157046 1 0.0838597118854523 experiment 0.465698965685908 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431076 chr3:39431077 nonsynonymous SNV 0.987 4 22 hm5C_associated_SNPs_22891 2 Uncertain significance Hereditary sideroblastic anemia RCV000357294.1
3875 chr15 91358357 91358357 1 + T C GBM 91358341 + 91358321 91358361 41 TCACATTTCAGGGGGTCTGCCACATGTAGAAAGATATCTTC TCACATTTCAGGGGGTCTGCCACATGTAGAAAGATACCTTC < 41bp 1 0.453067808328448 1 0.503970682621002 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control BLM ENSG00000197299 CDS Human protein_coding chr15:91358341 chr15:91358357 nonsynonymous SNV 0.004 0 37 hm5C_associated_SNPs_23016 1 not provided not specified RCV000120234.1
3875 chr15 91358357 91358357 1 + T C GBM 91358367 + 91358347 91358387 41 TAGAAAGATATCTTCCAAAACGAAATCCTCCAGCATCATTG TAGAAAGATACCTTCCAAAACGAAATCCTCCAGCATCATTG < 41bp 1 0.648378838851225 1 0.0550813674926758 experiment 0.70324232229755 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control BLM ENSG00000197299 CDS Human protein_coding chr15:91358367 chr15:91358357 nonsynonymous SNV 0.004 0 11 hm5C_associated_SNPs_23017 1 not provided not specified RCV000120234.1
3875 chr21 47754556 47754556 1 + G C GBM 47754537 + 47754517 47754557 41 GTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGT GTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATCT < 41bp 1 0.644877606259175 1 0.426728904247284 experiment 0.710244787481649 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47754537 chr21:47754556 nonsynonymous SNV 0.000 0 40 hm5C_associated_SNPs_23019 1 Uncertain significance Microcephalic Osteodysplastic Primordial Dwarfism RCV000323581.1
3875 chr6 107956339 107956339 1 + C T HNSC 107956346 + 107956326 107956366 41 CCTGAGGAACCGGCGGTGAGCGAGCTAGAGTCGGTCAAGGA CCTGAGGAACCGGTGGTGAGCGAGCTAGAGTCGGTCAAGGA < 41bp 1 0.517398150415471 1 0.607241928577423 experiment 0.965203699169057 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient SOBP ENSG00000112320 CDS Human protein_coding chr6:107956346 chr6:107956339 nonsynonymous SNV 0.695 0 14 hm5C_associated_SNPs_23240 1 Uncertain significance not specified RCV000504422.1
3875 chr5 176710792 176710792 1 + G A HNSC 176710791 + 176710771 176710811 41 TTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCC TTCTTTTGGAATTCTAGGACCAAATCATTGATGCTGGTCCC < 41bp 1 0.0647591237436759 1 0.268729597330093 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176710791 chr5:176710792 nonsynonymous SNV 0.996 5 22 hm5C_associated_SNPs_23542 2 Pathogenic Sotos syndrome 1 RCV000146903.1
3875 chr5 176710792 176710792 1 + G A HNSC 176710791 + 176710771 176710811 41 TTCTTTTGGAATTCTAGGACCGAATCATTGATGCTGGTCCC TTCTTTTGGAATTCTAGGACCAAATCATTGATGCTGGTCCC < 41bp 1 0.0647591237436759 1 0.268729597330093 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control NSD1 ENSG00000165671 CDS Human protein_coding chr5:176710791 chr5:176710792 nonsynonymous SNV 0.996 5 22 hm5C_associated_SNPs_23542 2 Pathogenic not provided RCV000286929.1
3875 chr14 68191267 68191267 1 + C T HNSC 68191265 + 68191245 68191285 41 GTGGTGATCACTGGCGCCAACACGGGCATTGGCAAGGAGAC GTGGTGATCACTGGCGCCAACATGGGCATTGGCAAGGAGAC < 41bp 1 0.57155225442971 1 0.37426769733429 experiment 0.85689549114058 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control RDH12 ENSG00000139988 CDS Human protein_coding chr14:68191265 chr14:68191267 nonsynonymous SNV 0.987 5 23 hm5C_associated_SNPs_23778 1 Pathogenic Leber congenital amaurosis 13 RCV000002130.3
3875 chr19 50912134 50912134 1 + G A HNSC 50912125 + 50912105 50912145 41 CCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTG CCACAACCTGTGTTACACCACGCTCCTTCAGCCCGGGACTG < 41bp 1 0.186532658782493 1 0.0524135529994965 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912125 chr19:50912134 nonsynonymous SNV 0.068 0 30 hm5C_associated_SNPs_23828 1 Uncertain significance not specified RCV000485581.1
3875 chr19 50902122 50902122 1 + G A HNSC 50902140 + 50902120 50902160 41 GCGGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGG GCAGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGG < 41bp 1 0.512366883457633 1 0.68350213766098 experiment 0.975266233084734 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902140 chr19:50902122 nonsynonymous SNV 0.999 1 3 hm5C_associated_SNPs_24005 1 Uncertain significance Colorectal cancer 10 RCV000475642.1
3875 chr19 50902122 50902122 1 + G A HNSC 50902141 + 50902121 50902161 41 CGGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGGC CAGCGGCCAGGCCCAGGGCCCGGGGTGCCCCCAAAGCGGGC < 41bp 1 0.740271299727018 1 0.807937502861023 experiment 0.519457400545963 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902141 chr19:50902122 nonsynonymous SNV 0.999 1 2 hm5C_associated_SNPs_24006 1 Uncertain significance Colorectal cancer 10 RCV000475642.1
3875 chr17 66526546 66526546 1 + C T HNSC 66526558 + 66526538 66526578 41 TCCTCAAACGAAACATCCAGCAGTACAACAGTTTTGTGTCA TCCTCAAATGAAACATCCAGCAGTACAACAGTTTTGTGTCA < 41bp 1 0.512513127146331 1 0.854114294052124 experiment 0.974973745707337 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PRKAR1A ENSG00000108946 CDS Human protein_coding chr17:66526558 chr17:66526546 stopgain 0.998 1 9 hm5C_associated_SNPs_24161 1 Pathogenic Acrodysostosis 1 with or without hormone resistance RCV000022791.25
3875 chr3 10191593 10191593 1 + A T KIRC 10191581 + 10191561 10191601 41 ACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG ACGAAGATCTGGAAGACCACCCAAATGTGCAGTAAGACCTG < 41bp 1 0.532631395162733 1 0.337643206119537 experiment 0.934737209674533 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VHL ENSG00000134086 CDS Human protein_coding chr3:10191581 chr3:10191593 stopgain 0.979 1 33 hm5C_associated_SNPs_24430 1 Pathogenic Von Hippel-Lindau syndrome RCV000177084.2
3875 chr3 10191590 10191590 1 + C T KIRC 10191581 + 10191561 10191601 41 ACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG ACGAAGATCTGGAAGACCACCCAAATGTGTAGAAAGACCTG < 41bp 1 0.450540465549694 1 0.102567940950394 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VHL ENSG00000134086 CDS Human protein_coding chr3:10191581 chr3:10191590 stopgain 0.941 0 30 hm5C_associated_SNPs_24450 1 Pathogenic Hereditary cancer-predisposing syndrome RCV000492237.1
3875 chr3 10191563 10191563 1 + G T KIRC 10191581 + 10191561 10191601 41 ACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG ACTAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG < 41bp 1 0.562452367214569 1 0.347251236438751 experiment 0.875095265570862 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VHL ENSG00000134086 CDS Human protein_coding chr3:10191581 chr3:10191563 stopgain 0.867 1 3 hm5C_associated_SNPs_24501 1 Likely pathogenic not provided RCV000432980.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946933 + 135946913 135946953 41 ACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGC ACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGG < 41bp 1 0.311241055847949 1 0.342521399259567 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946933 chr9:135946953 synonymous SNV . 0 41 hm5C_associated_SNPs_24698 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946934 + 135946914 135946954 41 CGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCG CGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG < 41bp 1 0.456570498476545 1 0.138499528169632 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946934 chr9:135946953 synonymous SNV . 0 40 hm5C_associated_SNPs_24699 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946936 + 135946916 135946956 41 CCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCC CCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCC < 41bp 1 0.235261070519258 1 0.0991180539131165 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946936 chr9:135946953 synonymous SNV . 0 38 hm5C_associated_SNPs_24700 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946937 + 135946917 135946957 41 CGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCC CGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC < 41bp 1 0.495403983444202 1 0.122685819864273 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946937 chr9:135946953 synonymous SNV . 0 37 hm5C_associated_SNPs_24701 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946947 + 135946927 135946967 41 CCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCC CCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCC < 41bp 1 0.778286655931241 1 0.823559939861298 experiment 0.443426688137518 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946947 chr9:135946953 synonymous SNV . 0 27 hm5C_associated_SNPs_24702 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946955 + 135946935 135946975 41 GCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGG GCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGG < 41bp 1 0.211489084007566 1 0.135015517473221 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946955 chr9:135946953 synonymous SNV . 0 19 hm5C_associated_SNPs_24703 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946956 + 135946936 135946976 41 CCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGG CCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGG < 41bp 1 0.210325548458392 1 0.100198566913605 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946956 chr9:135946953 synonymous SNV . 0 18 hm5C_associated_SNPs_24704 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946957 + 135946937 135946977 41 CCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGT CCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGT < 41bp 1 0.24055549030358 1 0.0811757445335388 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946957 chr9:135946953 synonymous SNV . 0 17 hm5C_associated_SNPs_24705 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946958 + 135946938 135946978 41 CACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTG CACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTG < 41bp 1 0.306481669470721 1 0.115016341209412 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946958 chr9:135946953 synonymous SNV . 0 16 hm5C_associated_SNPs_24706 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946959 + 135946939 135946979 41 ACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGA ACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGA < 41bp 1 0.649352167293832 1 0.452252626419067 experiment 0.701295665412337 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946959 chr9:135946953 synonymous SNV . 0 15 hm5C_associated_SNPs_24707 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946960 + 135946940 135946980 41 CGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGAC CGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGAC < 41bp 1 0.522847329635378 1 0.13023242354393 experiment 0.954305340729245 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946960 chr9:135946953 synonymous SNV . 0 14 hm5C_associated_SNPs_24708 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946961 + 135946941 135946981 41 GGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACT GGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACT < 41bp 1 0.367451162187515 1 0.568037390708923 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946961 chr9:135946953 synonymous SNV . 0 13 hm5C_associated_SNPs_24709 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946962 + 135946942 135946982 41 GGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTC GGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTC < 41bp 1 0.477713349709998 1 0.598185181617737 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946962 chr9:135946953 synonymous SNV . 0 12 hm5C_associated_SNPs_24710 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946966 + 135946946 135946986 41 ACTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGG ACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGG < 41bp 1 0.379073677542034 1 0.437204539775848 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient CEL ENSG00000170835 CDS Human protein_coding chr9:135946966 chr9:135946953 synonymous SNV . 0 8 hm5C_associated_SNPs_24711 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946967 + 135946947 135946987 41 CTCCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG CTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGG < 41bp 1 0.513665551805563 1 0.131643623113632 experiment 0.972668896388875 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946967 chr9:135946953 synonymous SNV . 0 7 hm5C_associated_SNPs_24712 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946969 + 135946949 135946989 41 CCGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCC CCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCC < 41bp 1 0.236389726893777 1 0.121432453393936 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946969 chr9:135946953 synonymous SNV . 0 5 hm5C_associated_SNPs_24713 1 Benign not specified RCV000116662.1
3875 chr9 135946953 135946953 1 + C G KIRC 135946970 + 135946950 135946990 41 CGGCGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC CGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCC < 41bp 1 0.487385112462299 1 0.161492556333542 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control CEL ENSG00000170835 CDS Human protein_coding chr9:135946970 chr9:135946953 synonymous SNV . 0 4 hm5C_associated_SNPs_24714 1 Benign not specified RCV000116662.1
3875 chr6 7579935 7579935 1 + T C LGG 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AGACTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.209285021444391 1 0.330380469560623 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579935 nonsynonymous SNV 0.999 5 4 hm5C_associated_SNPs_24989 2 Uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000236673.1
3875 chr6 7579935 7579935 1 + T C LGG 7579952 + 7579932 7579972 41 AGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC AGACTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACC < 41bp 1 0.209285021444391 1 0.330380469560623 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control DSP ENSG00000096696 CDS Human protein_coding chr6:7579952 chr6:7579935 nonsynonymous SNV 0.999 5 4 hm5C_associated_SNPs_24989 2 Uncertain significance Cardiomyopathy dilated with woolly hair and keratoderma RCV000236673.1
3875 chr9 133355812 133355812 1 + C T LGG 133355811 + 133355791 133355831 41 CGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTC CGTATTGACATCGTGGAGAACTGCTTCATTGGAATGAAGTC < 41bp 1 0.286249230485728 1 0.247995525598526 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ASS1 ENSG00000130707 CDS Human protein_coding chr9:133355811 chr9:133355812 nonsynonymous SNV 1.000 3 22 hm5C_associated_SNPs_25005 1 Likely pathogenic Citrullinemia type I RCV000409266.1
3875 chr1 161326623 161326623 1 + G A LGG 161326622 + 161326602 161326642 41 ATCATACCTGGAATGGGATCCGACACTTGGTAAGTTAATTC ATCATACCTGGAATGGGATCCAACACTTGGTAAGTTAATTC < 41bp 1 0.511352111978677 1 0.393554419279099 experiment 0.977295776042647 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control SDHC ENSG00000143252 CDS Human protein_coding chr1:161326622 chr1:161326623 nonsynonymous SNV 0.998 5 22 hm5C_associated_SNPs_25015 1 Uncertain significance not provided RCV000034694.1
3875 chr2 48033352 48033352 1 + C T LGG 48033370 + 48033350 48033390 41 TACTGCAACATTTGATGGGACGGCAATAGCAAATGCAGTTG TATTGCAACATTTGATGGGACGGCAATAGCAAATGCAGTTG < 41bp 1 0.703491801286036 1 0.175381869077682 experiment 0.593016397427929 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48033370 chr2:48033352 nonsynonymous SNV 0.994 5 3 hm5C_associated_SNPs_25067 1 Uncertain significance Lynch syndrome RCV000074910.2
3875 chr5 37000657 37000657 1 + C T LGG 37000659 + 37000639 37000679 41 GAAGATTATTCTCCTCCTCCCAGCCTTAGTGAGGGTAATTC GAAGATTATTCTCCTCCTTCCAGCCTTAGTGAGGGTAATTC < 41bp 1 0.159794093947006 1 0.058546245098114 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control NIPBL ENSG00000164190 CDS Human protein_coding chr5:37000659 chr5:37000657 nonsynonymous SNV 1.000 5 19 hm5C_associated_SNPs_25160 1 Uncertain significance Cornelia de Lange Syndrome RCV000349808.1
3875 chr19 11145688 11145688 1 + C T LGG 11145668 + 11145648 11145688 41 TCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGAC TCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGAT < 41bp 1 0.0725681899386386 1 0.0953952968120575 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145668 chr19:11145688 synonymous SNV . 0 41 hm5C_associated_SNPs_25307 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231317.1
3875 chr19 11145688 11145688 1 + C T LGG 11145669 + 11145649 11145689 41 CATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACG CATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGATG < 41bp 1 0.225261120119233 1 0.137235671281815 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145669 chr19:11145688 synonymous SNV . 0 40 hm5C_associated_SNPs_25308 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231317.1
3875 chr19 11145688 11145688 1 + C T LGG 11145672 + 11145652 11145692 41 GGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACG GGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGATGACG < 41bp 1 0.542106805168064 1 0.523233950138092 experiment 0.915786389663871 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145672 chr19:11145688 synonymous SNV . 0 37 hm5C_associated_SNPs_25309 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231317.1
3875 chr19 11145688 11145688 1 + C T LGG 11145691 + 11145671 11145711 41 TCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGAC TCGTGGATCATCAAGGATGACGCGGAGGTGGAGCGGCTGAC < 41bp 1 0.768904058057162 1 0.690637290477753 experiment 0.462191883885675 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145691 chr19:11145688 synonymous SNV . 0 18 hm5C_associated_SNPs_25310 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231317.1
3875 chr19 11145688 11145688 1 + C T LGG 11145704 + 11145684 11145724 41 AGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAG AGGATGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAG < 41bp 1 0.469505521751242 1 0.547757148742676 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145704 chr19:11145688 synonymous SNV . 0 5 hm5C_associated_SNPs_25311 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231317.1
3875 chr19 11145688 11145688 1 + C T LGG 11145707 + 11145687 11145727 41 ACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG ATGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG < 41bp 1 0.226009814298357 1 0.367678433656693 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145707 chr19:11145688 synonymous SNV . 0 2 hm5C_associated_SNPs_25312 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231317.1
3875 chr3 10076415 10076415 1 + A G LIHC 10076403 + 10076383 10076423 41 TAGAAGAATTTGTTAGTGGCCTGGAGTCTTACATTGAGGAT TAGAAGAATTTGTTAGTGGCCTGGAGTCTTACGTTGAGGAT < 41bp 1 0.689720474257349 1 0.42510998249054 experiment 0.620559051485302 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control FANCD2 ENSG00000144554 CDS Human protein_coding chr3:10076403 chr3:10076415 nonsynonymous SNV 0.998 0 33 hm5C_associated_SNPs_25660 1 Uncertain significance Fanconi anemia RCV000473368.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458493 + 142458473 142458513 41 CTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTG CTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGTTG < 41bp 1 0.798924419369359 1 0.638371050357819 experiment 0.402151161261282 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458493 chr7:142458511 nonsynonymous SNV 0.013 5 39 hm5C_associated_SNPs_26015 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458497 + 142458477 142458517 41 CAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTC CAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGTTGGCTC < 41bp 1 0.0740302532020083 1 0.0325438976287842 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458497 chr7:142458511 nonsynonymous SNV 0.013 5 35 hm5C_associated_SNPs_26016 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458500 + 142458480 142458520 41 GTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCT GTGTCCCTGAATTCTGGCTACCACTTCTGTGTTGGCTCCCT < 41bp 1 0.0737463605066061 1 0.0945606231689453 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458500 chr7:142458511 nonsynonymous SNV 0.013 5 32 hm5C_associated_SNPs_26017 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458501 + 142458481 142458521 41 TGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTC TGTCCCTGAATTCTGGCTACCACTTCTGTGTTGGCTCCCTC < 41bp 1 0.178383702023722 1 0.269904494285583 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458501 chr7:142458511 nonsynonymous SNV 0.013 5 31 hm5C_associated_SNPs_26018 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458503 + 142458483 142458523 41 TCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCAT TCCCTGAATTCTGGCTACCACTTCTGTGTTGGCTCCCTCAT < 41bp 1 0.306282309378706 1 0.316977828741074 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458503 chr7:142458511 nonsynonymous SNV 0.013 5 29 hm5C_associated_SNPs_26019 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458506 + 142458486 142458526 41 CTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAA CTGAATTCTGGCTACCACTTCTGTGTTGGCTCCCTCATCAA < 41bp 1 0.576352145564096 1 0.122177720069885 experiment 0.847295708871807 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458506 chr7:142458511 nonsynonymous SNV 0.013 5 26 hm5C_associated_SNPs_26020 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458515 + 142458495 142458535 41 GGCTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTG GGCTACCACTTCTGTGTTGGCTCCCTCATCAACGAACAGTG < 41bp 1 0.324371108975394 1 0.0832276940345764 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458515 chr7:142458511 nonsynonymous SNV 0.013 5 17 hm5C_associated_SNPs_26021 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458517 + 142458497 142458537 41 CTACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGG CTACCACTTCTGTGTTGGCTCCCTCATCAACGAACAGTGGG < 41bp 1 0.0847178915732525 1 0.0338574349880219 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458517 chr7:142458511 nonsynonymous SNV 0.013 5 15 hm5C_associated_SNPs_26022 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458518 + 142458498 142458538 41 TACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGT TACCACTTCTGTGTTGGCTCCCTCATCAACGAACAGTGGGT < 41bp 1 0.122035389770522 1 0.0499318838119507 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458518 chr7:142458511 nonsynonymous SNV 0.013 5 14 hm5C_associated_SNPs_26023 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458519 + 142458499 142458539 41 ACCACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTG ACCACTTCTGTGTTGGCTCCCTCATCAACGAACAGTGGGTG < 41bp 1 0.325936030844151 1 0.138920366764069 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458519 chr7:142458511 nonsynonymous SNV 0.013 5 13 hm5C_associated_SNPs_26024 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458521 + 142458501 142458541 41 CACTTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGT CACTTCTGTGTTGGCTCCCTCATCAACGAACAGTGGGTGGT < 41bp 1 0.453226006303722 1 0.675046443939209 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458521 chr7:142458511 nonsynonymous SNV 0.013 5 11 hm5C_associated_SNPs_26025 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458524 + 142458504 142458544 41 TTCTGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGTATC TTCTGTGTTGGCTCCCTCATCAACGAACAGTGGGTGGTATC < 41bp 1 0.672342011214285 1 0.50632256269455 experiment 0.655315977571431 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458524 chr7:142458511 nonsynonymous SNV 0.013 5 8 hm5C_associated_SNPs_26026 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458527 + 142458507 142458547 41 TGTGGTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGC TGTGTTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGC < 41bp 1 0.354280748239536 1 0.436285853385925 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458527 chr7:142458511 nonsynonymous SNV 0.013 5 5 hm5C_associated_SNPs_26027 1 Benign not specified RCV000455215.1
3875 chr7 142458511 142458511 1 + G T LIHC 142458531 + 142458511 142458551 41 GTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGCAGGC TTGGCTCCCTCATCAACGAACAGTGGGTGGTATCAGCAGGC < 41bp 1 0.449965835771491 1 0.259411334991455 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458531 chr7:142458511 nonsynonymous SNV 0.013 5 1 hm5C_associated_SNPs_26028 1 Benign not specified RCV000455215.1
3875 chr12 112910827 112910827 1 + A G LIHC 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATGTAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.298870273480415 1 0.0473556518554688 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910827 nonsynonymous SNV 1.000 3 5 hm5C_associated_SNPs_26049 6 Pathogenic LEOPARD syndrome 1 RCV000030620.1
3875 chr12 112910827 112910827 1 + A G LIHC 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATGTAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.298870273480415 1 0.0473556518554688 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910827 nonsynonymous SNV 1.000 3 5 hm5C_associated_SNPs_26049 6 Pathogenic Noonan syndrome RCV000030620.1
3875 chr12 112910827 112910827 1 + A G LIHC 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATGTAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.298870273480415 1 0.0473556518554688 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910827 nonsynonymous SNV 1.000 3 5 hm5C_associated_SNPs_26049 6 Pathogenic Rasopathy RCV000033504.9
3875 chr12 112910827 112910827 1 + A G LIHC 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATGTAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.298870273480415 1 0.0473556518554688 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910827 nonsynonymous SNV 1.000 3 5 hm5C_associated_SNPs_26049 6 Pathogenic LEOPARD syndrome 1 RCV000055890.6
3875 chr12 112910827 112910827 1 + A G LIHC 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATGTAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.298870273480415 1 0.0473556518554688 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910827 nonsynonymous SNV 1.000 3 5 hm5C_associated_SNPs_26049 6 Pathogenic not provided RCV000077859.5
3875 chr12 112910827 112910827 1 + A G LIHC 112910843 + 112910823 112910863 41 AGATATAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC AGATGTAAAAACATCCTGCCCTGTAAGTATCAATATTCCGC < 41bp 1 0.298870273480415 1 0.0473556518554688 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112910843 chr12:112910827 nonsynonymous SNV 1.000 3 5 hm5C_associated_SNPs_26049 6 Pathogenic Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia RCV000492270.1
3875 chr17 4905834 4905834 1 + C T LUAD 4905833 + 4905813 4905853 41 AGTCGGGGTTCTCTGCGGGTCCGGGAGCACCCCATCCTGGG AGTCGGGGTTCTCTGCGGGTCTGGGAGCACCCCATCCTGGG < 41bp 1 0.753168954177932 1 0.724071741104126 experiment 0.493662091644137 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control KIF1C ENSG00000129250 CDS Human protein_coding chr17:4905833 chr17:4905834 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_26229 1 Pathogenic Ataxia, spastic, 2, autosomal recessive RCV000087324.4
3875 chrX 49853406 49853406 1 + C T LUAD 49853386 + 49853366 49853406 41 CCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTC CCTCTTTATCCCTAGCATGGCTGTTGGTGCTATAGCAGGTT < 41bp 1 0.141869147652523 1 0.0909989178180695 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control CLCN5 ENSG00000171365 CDS Human protein_coding chrX:49853386 chrX:49853406 stopgain 1.000 1 41 hm5C_associated_SNPs_27054 1 Pathogenic Dent disease 1 RCV000192277.1
3875 chr13 111164384 111164384 1 + G A LUAD 111164391 + 111164371 111164411 41 TGCAATGGAGGCCGCGGCACCTGCCACTACTACGCCAACAA TGCAATGGAGGCCACGGCACCTGCCACTACTACGCCAACAA < 41bp 1 0.163045841547445 1 0.195716977119446 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111164391 chr13:111164384 nonsynonymous SNV 0.924 5 14 hm5C_associated_SNPs_27421 1 Likely benign Porencephaly RCV000369382.1
3875 chr7 55259439 55259439 1 + T G LUAD 55259432 + 55259412 55259452 41 GGCATGAACTACTTGGAGGACCGTCGCTTGGTGCACCGCGA GGCATGAACTACTTGGAGGACCGTCGCGTGGTGCACCGCGA < 41bp 1 0.0849398682395569 1 0.273907214403152 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EGFR ENSG00000146648 CDS Human protein_coding chr7:55259432 chr7:55259439 nonsynonymous SNV 0.998 2 28 hm5C_associated_SNPs_27600 1 Uncertain significance not specified RCV000038433.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459765 + 142459745 142459785 41 CATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACG CATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACA < 41bp 1 0.344669235991048 1 0.151968151330948 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459765 chr7:142459785 nonsynonymous SNV 0.000 1 41 hm5C_associated_SNPs_27641 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459766 + 142459746 142459786 41 ATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGC ATCATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACAC < 41bp 1 0.392924440069784 1 0.17532616853714 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459766 chr7:142459785 nonsynonymous SNV 0.000 1 40 hm5C_associated_SNPs_27642 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459768 + 142459748 142459788 41 CATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGCCC CATGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACACCC < 41bp 1 0.745014919232695 1 0.679953753948212 experiment 0.50997016153461 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459768 chr7:142459785 nonsynonymous SNV 0.000 1 38 hm5C_associated_SNPs_27643 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459770 + 142459750 142459790 41 TGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGC TGTTAATCAAGCTCTCCTCACGTGCAGTAATCAACACCCGC < 41bp 1 0.347948792175124 1 0.104953467845917 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459770 chr7:142459785 nonsynonymous SNV 0.000 1 36 hm5C_associated_SNPs_27644 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459774 + 142459754 142459794 41 AATCAAGCTCTCCTCACGTGCAGTAATCAACGCCCGCGTGT AATCAAGCTCTCCTCACGTGCAGTAATCAACACCCGCGTGT < 41bp 1 0.688776931486466 1 0.0605171322822571 experiment 0.622446137027068 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459774 chr7:142459785 nonsynonymous SNV 0.000 1 32 hm5C_associated_SNPs_27645 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459781 + 142459761 142459801 41 CTCTCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCAT CTCTCCTCACGTGCAGTAATCAACACCCGCGTGTCCACCAT < 41bp 1 0.770719654964611 1 0.812281012535095 experiment 0.458560690070779 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459781 chr7:142459785 nonsynonymous SNV 0.000 1 25 hm5C_associated_SNPs_27646 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459784 + 142459764 142459804 41 TCCTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTC TCCTCACGTGCAGTAATCAACACCCGCGTGTCCACCATCTC < 41bp 1 0.580259204183171 1 0.141888111829758 experiment 0.839481591633658 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459784 chr7:142459785 nonsynonymous SNV 0.000 1 22 hm5C_associated_SNPs_27647 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459786 + 142459766 142459806 41 CTCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTC CTCACGTGCAGTAATCAACACCCGCGTGTCCACCATCTCTC < 41bp 1 0.52497577060219 1 0.0478902757167816 experiment 0.950048458795619 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459786 chr7:142459785 nonsynonymous SNV 0.000 1 20 hm5C_associated_SNPs_27648 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459787 + 142459767 142459807 41 TCACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCT TCACGTGCAGTAATCAACACCCGCGTGTCCACCATCTCTCT < 41bp 1 0.568529951422655 1 0.0683120787143707 experiment 0.862940097154691 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459787 chr7:142459785 nonsynonymous SNV 0.000 1 19 hm5C_associated_SNPs_27649 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459788 + 142459768 142459808 41 CACGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTG CACGTGCAGTAATCAACACCCGCGTGTCCACCATCTCTCTG < 41bp 1 0.799280446926456 1 0.0809596478939056 experiment 0.401439106147089 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459788 chr7:142459785 nonsynonymous SNV 0.000 1 18 hm5C_associated_SNPs_27650 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459790 + 142459770 142459810 41 CGTGCAGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCC CGTGCAGTAATCAACACCCGCGTGTCCACCATCTCTCTGCC < 41bp 1 0.433743766361404 1 0.168707549571991 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459790 chr7:142459785 nonsynonymous SNV 0.000 1 16 hm5C_associated_SNPs_27651 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459795 + 142459775 142459815 41 AGTAATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCG AGTAATCAACACCCGCGTGTCCACCATCTCTCTGCCCACCG < 41bp 1 0.353147417763208 1 0.086677759885788 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459795 chr7:142459785 nonsynonymous SNV 0.000 1 11 hm5C_associated_SNPs_27652 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459798 + 142459778 142459818 41 AATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCC AATCAACACCCGCGTGTCCACCATCTCTCTGCCCACCGCCC < 41bp 1 0.174152139259467 1 0.0269918143749237 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459798 chr7:142459785 nonsynonymous SNV 0.000 1 8 hm5C_associated_SNPs_27653 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459799 + 142459779 142459819 41 ATCAACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCC ATCAACACCCGCGTGTCCACCATCTCTCTGCCCACCGCCCC < 41bp 1 0.44380772721018 1 0.192837476730347 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459799 chr7:142459785 nonsynonymous SNV 0.000 1 7 hm5C_associated_SNPs_27654 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459802 + 142459782 142459822 41 AACGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCC AACACCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCC < 41bp 1 0.466937419905853 1 0.338277280330658 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459802 chr7:142459785 nonsynonymous SNV 0.000 1 4 hm5C_associated_SNPs_27655 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 142459785 142459785 1 + G A LUAD 142459804 + 142459784 142459824 41 CGCCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAG CACCCGCGTGTCCACCATCTCTCTGCCCACCGCCCCTCCAG < 41bp 1 0.654101169898553 1 0.28865909576416 experiment 0.691797660202895 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142459804 chr7:142459785 nonsynonymous SNV 0.000 1 2 hm5C_associated_SNPs_27656 1 Uncertain significance Hereditary pancreatitis RCV000012660.2
3875 chr7 75933446 75933446 1 + G T LUAD 75933438 + 75933418 75933458 41 AGTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAG AGTCACCTTCGAGTCGCGGGCCCAGCTTTGGGGCCCAGAAG < 41bp 1 0.248696803348536 1 0.170362800359726 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933438 chr7:75933446 nonsynonymous SNV 0.837 4 29 hm5C_associated_SNPs_28196 1 Uncertain significance not specified RCV000236155.1
3875 chr7 75933446 75933446 1 + G T LUAD 75933439 + 75933419 75933459 41 GTCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGC GTCACCTTCGAGTCGCGGGCCCAGCTTTGGGGCCCAGAAGC < 41bp 1 0.272305771677829 1 0.44756606221199 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933439 chr7:75933446 nonsynonymous SNV 0.837 4 28 hm5C_associated_SNPs_28197 1 Uncertain significance not specified RCV000236155.1
3875 chr7 75933446 75933446 1 + G T LUAD 75933440 + 75933420 75933460 41 TCACCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCT TCACCTTCGAGTCGCGGGCCCAGCTTTGGGGCCCAGAAGCT < 41bp 1 0.511749000685976 1 0.202042430639267 experiment 0.976501998628049 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933440 chr7:75933446 nonsynonymous SNV 0.837 4 27 hm5C_associated_SNPs_28198 1 Uncertain significance not specified RCV000236155.1
3875 chr7 75933446 75933446 1 + G T LUAD 75933451 + 75933431 75933471 41 TCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGA TCGCGGGCCCAGCTTTGGGGCCCAGAAGCTGCAAAATCCGA < 41bp 1 0.136640633018791 1 0.0410085618495941 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933451 chr7:75933446 nonsynonymous SNV 0.837 4 16 hm5C_associated_SNPs_28199 1 Uncertain significance not specified RCV000236155.1
3875 chr7 75933446 75933446 1 + G T LUAD 75933452 + 75933432 75933472 41 CGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGAT CGCGGGCCCAGCTTTGGGGCCCAGAAGCTGCAAAATCCGAT < 41bp 1 0.351946402462154 1 0.115142822265625 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933452 chr7:75933446 nonsynonymous SNV 0.837 4 15 hm5C_associated_SNPs_28200 1 Uncertain significance not specified RCV000236155.1
3875 chr7 75933446 75933446 1 + G T LUAD 75933453 + 75933433 75933473 41 GCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAAATCCGATG GCGGGCCCAGCTTTGGGGCCCAGAAGCTGCAAAATCCGATG < 41bp 1 0.755052726592767 1 0.423795968294144 experiment 0.489894546814466 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control|28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933453 chr7:75933446 nonsynonymous SNV 0.837 4 14 hm5C_associated_SNPs_28201 1 Uncertain significance not specified RCV000236155.1
3875 chr19 11096052 11096052 1 + C T LUSC 11096032 + 11096012 11096052 41 ATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCC ATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCT < 41bp 1 0.254540750603923 1 0.385194301605225 experiment 1 Functional Loss 30872485;GSE90963;RBS-Seq;HeLa;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11096032 chr19:11096052 nonsynonymous SNV 0.808 5 41 hm5C_associated_SNPs_28515 1 Uncertain significance Rhabdoid tumor predisposition syndrome 2 RCV000204032.2
3875 chr1 120269489 120269489 1 + G A LUSC 120269481 + 120269461 120269501 41 TCTATCCTTGCAGGCAGATTCCCCAGGCGACGGCTTCGATG TCTATCCTTGCAGGCAGATTCCCCAGGCAACGGCTTCGATG < 41bp 1 0.788182882212579 1 0.0893608629703522 experiment 0.423634235574841 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PHGDH ENSG00000092621 CDS Human protein_coding chr1:120269481 chr1:120269489 synonymous SNV . 0 29 hm5C_associated_SNPs_28550 1 Uncertain significance Phosphoglycerate dehydrogenase deficiency RCV000399224.1
3875 chr20 57480498 57480498 1 + C T LUSC 57480488 + 57480468 57480508 41 GAGGATGAAGGAGTGCGTGCCTGCTACGAACGCTCCAACGA GAGGATGAAGGAGTGCGTGCCTGCTACGAATGCTCCAACGA < 41bp 1 0.452736541775193 1 0.319553405046463 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57480488 chr20:57480498 nonsynonymous SNV 0.986 5 31 hm5C_associated_SNPs_28661 1 Pathogenic Pseudohypoparathyroidism type 1A RCV000017286.26
3875 chr20 57480498 57480498 1 + C T LUSC 57480512 + 57480492 57480532 41 TACGAACGCTCCAACGAGTACCAGCTGATTGACTGTGCCCA TACGAATGCTCCAACGAGTACCAGCTGATTGACTGTGCCCA < 41bp 1 0.141494980955494 1 0.0771267414093018 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control GNAS ENSG00000087460 CDS Human protein_coding chr20:57480512 chr20:57480498 nonsynonymous SNV 0.986 5 7 hm5C_associated_SNPs_28662 1 Pathogenic Pseudohypoparathyroidism type 1A RCV000017286.26
3875 chr9 37432082 37432082 1 + C T LUSC 37432088 + 37432068 37432108 41 TGGACTGGATGTGACGAGCCCAGAACCACTGCCTACAAACC TGGACTGGATGTGATGAGCCCAGAACCACTGCCTACAAACC < 41bp 1 0.521611972755783 1 0.366869568824768 experiment 0.956776054488434 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control GRHPR ENSG00000137106 CDS Human protein_coding chr9:37432088 chr9:37432082 nonsynonymous SNV 0.969 2 15 hm5C_associated_SNPs_28737 1 Uncertain significance Primary hyperoxaluria RCV000361622.1
3875 chr17 17698002 17698002 1 + G T LUSC 17698000 + 17697980 17698020 41 AGAGCCTACACGGCAGTCTGCCGCTCGACAGCTTCTCCAAG AGAGCCTACACGGCAGTCTGCCTCTCGACAGCTTCTCCAAG < 41bp 1 0.0151472961566289 1 0.00691184401512146 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control RAI1 ENSG00000108557 CDS Human protein_coding chr17:17698000 chr17:17698002 synonymous SNV . 0 23 hm5C_associated_SNPs_28908 1 Uncertain significance not specified RCV000194779.1
3875 chr7 142458433 142458433 1 + A G LUSC 142458413 + 142458393 142458433 41 ATCTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAA ATCTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAG < 41bp 1 0.0593556836023751 1 0.155443102121353 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458413 chr7:142458433 nonsynonymous SNV 0.858 2 41 hm5C_associated_SNPs_29146 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr7 142458433 142458433 1 + A G LUSC 142458414 + 142458394 142458434 41 TCTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAAG TCTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAGG < 41bp 1 0.02522593772753 1 0.194945633411407 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458414 chr7:142458433 nonsynonymous SNV 0.858 2 40 hm5C_associated_SNPs_29147 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr7 142458433 142458433 1 + A G LUSC 142458415 + 142458395 142458435 41 CTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAAGA CTCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAGGA < 41bp 1 0.00356102271771062 1 0.131398469209671 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458415 chr7:142458433 nonsynonymous SNV 0.858 2 39 hm5C_associated_SNPs_29148 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr7 142458433 142458433 1 + A G LUSC 142458416 + 142458396 142458436 41 TCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAAGAT TCCACTCCAGTTGCTGCCCCCTTTGATGATGATGACAGGAT < 41bp 1 0.0477024977736165 1 0.131785124540329 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458416 chr7:142458433 nonsynonymous SNV 0.858 2 38 hm5C_associated_SNPs_29149 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr7 142458433 142458433 1 + A G LUSC 142458437 + 142458417 142458457 41 TTTGATGATGATGACAAGATCGTTGGGGGCTACAACTGTGA TTTGATGATGATGACAGGATCGTTGGGGGCTACAACTGTGA < 41bp 1 0.185130566021121 1 0.113636314868927 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458437 chr7:142458433 nonsynonymous SNV 0.858 2 17 hm5C_associated_SNPs_29150 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr7 142458433 142458433 1 + A G LUSC 142458446 + 142458426 142458466 41 GATGACAAGATCGTTGGGGGCTACAACTGTGAGGAGAATTC GATGACAGGATCGTTGGGGGCTACAACTGTGAGGAGAATTC < 41bp 1 0.381859490992566 1 0.540628492832184 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458446 chr7:142458433 nonsynonymous SNV 0.858 2 8 hm5C_associated_SNPs_29151 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr7 142458433 142458433 1 + A G LUSC 142458449 + 142458429 142458469 41 GACAAGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGT GACAGGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGT < 41bp 1 0.187938651235839 1 0.220158666372299 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458449 chr7:142458433 nonsynonymous SNV 0.858 2 5 hm5C_associated_SNPs_29152 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr7 142458433 142458433 1 + A G LUSC 142458452 + 142458432 142458472 41 AAGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGTCCC AGGATCGTTGGGGGCTACAACTGTGAGGAGAATTCTGTCCC < 41bp 1 0.462922598784712 1 0.317121744155884 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458452 chr7:142458433 nonsynonymous SNV 0.858 2 2 hm5C_associated_SNPs_29153 1 Pathogenic Hereditary pancreatitis RCV000012653.14
3875 chr18 48604705 48604705 1 + G A PAAD 48604710 + 48604690 48604730 41 TTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCA TTTTGTGAAAGGCTGAGGACCGGATTACCCAAGACAGAGCA < 41bp 1 0.458473442082879 1 0.731878042221069 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48604710 chr18:48604705 stopgain 0.998 1 16 hm5C_associated_SNPs_31352 1 Pathogenic Juvenile polyposis syndrome RCV000021741.1
3875 chr1 120269491 120269491 1 + C T PRAD 120269481 + 120269461 120269501 41 TCTATCCTTGCAGGCAGATTCCCCAGGCGACGGCTTCGATG TCTATCCTTGCAGGCAGATTCCCCAGGCGATGGCTTCGATG < 41bp 1 0.758245323895986 1 0.270674407482147 experiment 0.483509352208029 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PHGDH ENSG00000092621 CDS Human protein_coding chr1:120269481 chr1:120269491 nonsynonymous SNV 0.648 1 31 hm5C_associated_SNPs_31506 2 Likely pathogenic Epileptic encephalopathy RCV000414985.1
3875 chr1 120269491 120269491 1 + C T PRAD 120269481 + 120269461 120269501 41 TCTATCCTTGCAGGCAGATTCCCCAGGCGACGGCTTCGATG TCTATCCTTGCAGGCAGATTCCCCAGGCGATGGCTTCGATG < 41bp 1 0.758245323895986 1 0.270674407482147 experiment 0.483509352208029 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PHGDH ENSG00000092621 CDS Human protein_coding chr1:120269481 chr1:120269491 nonsynonymous SNV 0.648 1 31 hm5C_associated_SNPs_31506 2 Likely pathogenic Seizures RCV000414985.1
3875 chr7 4824597 4824597 1 + C T PRAD 4824600 + 4824580 4824620 41 TCCGCCACCTCCTCTGCCGGCCGCCTGCTGCCGCCCCGGGA TCCGCCACCTCCTCTGCTGGCCGCCTGCTGCCGCCCCGGGA < 41bp 1 0.172975775114733 1 0.238365769386292 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control AP5Z1 ENSG00000242802 CDS Human protein_coding chr7:4824600 chr7:4824597 synonymous SNV . 0 18 hm5C_associated_SNPs_31723 1 Likely benign Spastic paraplegia 48, autosomal recessive RCV000226846.2
3875 chr7 4824597 4824597 1 + C T PRAD 4824610 + 4824590 4824630 41 CCTCTGCCGGCCGCCTGCTGCCGCCCCGGGAGCGGCTTCGG CCTCTGCTGGCCGCCTGCTGCCGCCCCGGGAGCGGCTTCGG < 41bp 1 0.195175405701816 1 0.259042203426361 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control AP5Z1 ENSG00000242802 CDS Human protein_coding chr7:4824610 chr7:4824597 synonymous SNV . 0 8 hm5C_associated_SNPs_31724 1 Likely benign Spastic paraplegia 48, autosomal recessive RCV000226846.2
3875 chr1 7796530 7796530 1 + G A SARC 7796544 + 7796524 7796564 41 TTCCGCGGAATGACCCTACTCCACCTGGCCGCTGCCCAGGG TTCCGCAGAATGACCCTACTCCACCTGGCCGCTGCCCAGGG < 41bp 1 0.29064872734419 1 0.169453322887421 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control CAMTA1 ENSG00000171735 CDS Human protein_coding chr1:7796544 chr1:7796530 nonsynonymous SNV 0.898 4 7 hm5C_associated_SNPs_32073 1 Uncertain significance not specified RCV000481046.1
3875 chr19 50912129 50912129 1 + C T SARC 50912125 + 50912105 50912145 41 CCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTG CCACAACCTGTGTTACACCACGCTTCTTCGGCCCGGGACTG < 41bp 1 0.241250348841866 1 0.0305946469306946 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912125 chr19:50912129 synonymous SNV . 0 25 hm5C_associated_SNPs_32515 2 Likely benign not specified RCV000419537.1
3875 chr19 50912129 50912129 1 + C T SARC 50912125 + 50912105 50912145 41 CCACAACCTGTGTTACACCACGCTCCTTCGGCCCGGGACTG CCACAACCTGTGTTACACCACGCTTCTTCGGCCCGGGACTG < 41bp 1 0.241250348841866 1 0.0305946469306946 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912125 chr19:50912129 synonymous SNV . 0 25 hm5C_associated_SNPs_32515 2 Likely benign Colorectal cancer 10 RCV000475559.1
3875 chr7 142458486 142458486 1 + C T SARC 142458466 + 142458446 142458486 41 CTACAACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCC CTACAACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCT < 41bp 1 0.133569697577188 1 0.166608780622482 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458466 chr7:142458486 synonymous SNV . 0 41 hm5C_associated_SNPs_32608 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458470 + 142458450 142458490 41 AACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAA AACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCTTGAA < 41bp 1 0.116431970023122 1 0.135868728160858 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458470 chr7:142458486 synonymous SNV . 0 37 hm5C_associated_SNPs_32609 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458471 + 142458451 142458491 41 ACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAAT ACTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCTTGAAT < 41bp 1 0.0903853908967509 1 0.115727484226227 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458471 chr7:142458486 synonymous SNV . 0 36 hm5C_associated_SNPs_32610 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458472 + 142458452 142458492 41 CTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATT CTGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCTTGAATT < 41bp 1 0.0151666406224258 1 0.102131992578506 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458472 chr7:142458486 synonymous SNV . 0 35 hm5C_associated_SNPs_32611 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458473 + 142458453 142458493 41 TGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTC TGTGAGGAGAATTCTGTCCCCTACCAGGTGTCCTTGAATTC < 41bp 1 0.146782996738929 1 0.0518117249011993 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458473 chr7:142458486 synonymous SNV . 0 34 hm5C_associated_SNPs_32612 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458476 + 142458456 142458496 41 GAGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGG GAGGAGAATTCTGTCCCCTACCAGGTGTCCTTGAATTCTGG < 41bp 1 0.175416732437467 1 0.32041323184967 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458476 chr7:142458486 synonymous SNV . 0 31 hm5C_associated_SNPs_32613 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458477 + 142458457 142458497 41 AGGAGAATTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGC AGGAGAATTCTGTCCCCTACCAGGTGTCCTTGAATTCTGGC < 41bp 1 0.575763456277683 1 0.877609670162201 experiment 0.848473087444634 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458477 chr7:142458486 synonymous SNV . 0 30 hm5C_associated_SNPs_32614 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458484 + 142458464 142458504 41 TTCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACT TTCTGTCCCCTACCAGGTGTCCTTGAATTCTGGCTACCACT < 41bp 1 0.0361163816749074 1 0.0498900413513184 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458484 chr7:142458486 synonymous SNV . 0 23 hm5C_associated_SNPs_32615 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458485 + 142458465 142458505 41 TCTGTCCCCTACCAGGTGTCCCTGAATTCTGGCTACCACTT TCTGTCCCCTACCAGGTGTCCTTGAATTCTGGCTACCACTT < 41bp 1 0.561195335159784 1 0.192632526159286 experiment 0.877609329680433 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458485 chr7:142458486 synonymous SNV . 0 22 hm5C_associated_SNPs_32616 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458493 + 142458473 142458513 41 CTACCAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTG CTACCAGGTGTCCTTGAATTCTGGCTACCACTTCTGTGGTG < 41bp 1 0.777952590957567 1 0.783184111118317 experiment 0.444094818084867 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458493 chr7:142458486 synonymous SNV . 0 14 hm5C_associated_SNPs_32617 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458497 + 142458477 142458517 41 CAGGTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTC CAGGTGTCCTTGAATTCTGGCTACCACTTCTGTGGTGGCTC < 41bp 1 0.0710248166349725 1 0.0493484139442444 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458497 chr7:142458486 synonymous SNV . 0 10 hm5C_associated_SNPs_32618 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458500 + 142458480 142458520 41 GTGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCT GTGTCCTTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCT < 41bp 1 0.0633152660106615 1 0.0451627671718597 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458500 chr7:142458486 synonymous SNV . 0 7 hm5C_associated_SNPs_32619 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458501 + 142458481 142458521 41 TGTCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTC TGTCCTTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTC < 41bp 1 0.205723480932329 1 0.390007704496384 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458501 chr7:142458486 synonymous SNV . 0 6 hm5C_associated_SNPs_32620 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458503 + 142458483 142458523 41 TCCCTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCAT TCCTTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCAT < 41bp 1 0.327383792856633 1 0.518207788467407 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458503 chr7:142458486 synonymous SNV . 0 4 hm5C_associated_SNPs_32621 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr7 142458486 142458486 1 + C T SARC 142458506 + 142458486 142458526 41 CTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAA TTGAATTCTGGCTACCACTTCTGTGGTGGCTCCCTCATCAA < 41bp 1 0.630160669295685 1 0.295745521783829 experiment 0.73967866140863 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142458506 chr7:142458486 synonymous SNV . 0 1 hm5C_associated_SNPs_32622 1 Likely benign Hereditary pancreatitis RCV000459280.1
3875 chr17 29554567 29554567 1 + G A SKCM 29554583 + 29554563 29554603 41 AATGGGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAA AATGAGAACAAGCAACAAAGCTAATCCTTAACTATCCAAAA < 41bp 1 0.115624238386339 1 0.0956215560436249 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control NF1 ENSG00000196712 CDS Human protein_coding chr17:29554583 chr17:29554567 stopgain 1.000 1 5 hm5C_associated_SNPs_33044 1 Pathogenic Neurofibromatosis, type 1 RCV000230729.1
3875 chr7 55259426 55259426 1 + G A SKCM 55259432 + 55259412 55259452 41 GGCATGAACTACTTGGAGGACCGTCGCTTGGTGCACCGCGA GGCATGAACTACTTAGAGGACCGTCGCTTGGTGCACCGCGA < 41bp 1 0.075492796139961 1 0.243246734142303 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EGFR ENSG00000146648 CDS Human protein_coding chr7:55259432 chr7:55259426 synonymous SNV . 0 15 hm5C_associated_SNPs_33444 1 Likely benign not specified RCV000154376.1
3875 chr4 146576317 146576317 1 + C T SKCM 146576316 + 146576296 146576336 41 TAGGTAATTCGTATTTCTGCCCGAAGTGGAGAGGGGATCTC TAGGTAATTCGTATTTCTGCCTGAAGTGGAGAGGGGATCTC < 41bp 1 0.783197059621284 1 0.101945698261261 experiment 0.433605880757431 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MMAA ENSG00000151611 CDS Human protein_coding chr4:146576316 chr4:146576317 stopgain 1.000 0 22 hm5C_associated_SNPs_33560 2 Pathogenic not provided RCV000186014.2
3875 chr4 146576317 146576317 1 + C T SKCM 146576316 + 146576296 146576336 41 TAGGTAATTCGTATTTCTGCCCGAAGTGGAGAGGGGATCTC TAGGTAATTCGTATTTCTGCCTGAAGTGGAGAGGGGATCTC < 41bp 1 0.783197059621284 1 0.101945698261261 experiment 0.433605880757431 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MMAA ENSG00000151611 CDS Human protein_coding chr4:146576316 chr4:146576317 stopgain 1.000 0 22 hm5C_associated_SNPs_33560 2 Pathogenic Methylmalonic aciduria cblA type RCV000203343.1
3875 chr10 43604510 43604510 1 + G A SKCM 43604501 + 43604481 43604521 41 CTGGTTCTCAACCGGAACCTCTCCATCTCGGAGAACCGCAC CTGGTTCTCAACCGGAACCTCTCCATCTCAGAGAACCGCAC < 41bp 1 0.655955636328146 1 0.974481880664825 experiment 0.688088727343707 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control RET ENSG00000165731 CDS Human protein_coding chr10:43604501 chr10:43604510 synonymous SNV . 0 30 hm5C_associated_SNPs_33597 3 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000123289.1
3875 chr10 43604510 43604510 1 + G A SKCM 43604501 + 43604481 43604521 41 CTGGTTCTCAACCGGAACCTCTCCATCTCGGAGAACCGCAC CTGGTTCTCAACCGGAACCTCTCCATCTCAGAGAACCGCAC < 41bp 1 0.655955636328146 1 0.974481880664825 experiment 0.688088727343707 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control RET ENSG00000165731 CDS Human protein_coding chr10:43604501 chr10:43604510 synonymous SNV . 0 30 hm5C_associated_SNPs_33597 3 Likely benign Multiple endocrine neoplasia, type 2b RCV000410870.1
3875 chr10 43604510 43604510 1 + G A SKCM 43604501 + 43604481 43604521 41 CTGGTTCTCAACCGGAACCTCTCCATCTCGGAGAACCGCAC CTGGTTCTCAACCGGAACCTCTCCATCTCAGAGAACCGCAC < 41bp 1 0.655955636328146 1 0.974481880664825 experiment 0.688088727343707 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control RET ENSG00000165731 CDS Human protein_coding chr10:43604501 chr10:43604510 synonymous SNV . 0 30 hm5C_associated_SNPs_33597 3 Likely benign Multiple endocrine neoplasia, type 2a RCV000412429.1
3875 chr19 42373208 42373208 1 + C T SKCM 42373193 + 42373173 42373213 41 GTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGC GTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGC < 41bp 1 0.245086808427614 1 0.107242614030838 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373193 chr19:42373208 stopgain 0.999 1 36 hm5C_associated_SNPs_33644 2 Pathogenic Diamond-Blackfan anemia 1 RCV000033182.3
3875 chr19 42373208 42373208 1 + C T SKCM 42373193 + 42373173 42373213 41 GTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGC GTCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGC < 41bp 1 0.245086808427614 1 0.107242614030838 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373193 chr19:42373208 stopgain 0.999 1 36 hm5C_associated_SNPs_33644 2 Pathogenic not provided RCV000272977.1
3875 chr19 42373208 42373208 1 + C T SKCM 42373194 + 42373174 42373214 41 TCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCT TCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCT < 41bp 1 0.25277075502836 1 0.11799544095993 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373194 chr19:42373208 stopgain 0.999 1 35 hm5C_associated_SNPs_33645 2 Pathogenic Diamond-Blackfan anemia 1 RCV000033182.3
3875 chr19 42373208 42373208 1 + C T SKCM 42373194 + 42373174 42373214 41 TCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCT TCAGAGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCT < 41bp 1 0.25277075502836 1 0.11799544095993 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373194 chr19:42373208 stopgain 0.999 1 35 hm5C_associated_SNPs_33645 2 Pathogenic not provided RCV000272977.1
3875 chr19 42373208 42373208 1 + C T SKCM 42373198 + 42373178 42373218 41 AGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAA AGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCTCCAA < 41bp 1 0.13261825134272 1 0.480832546949387 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373198 chr19:42373208 stopgain 0.999 1 31 hm5C_associated_SNPs_33646 2 Pathogenic Diamond-Blackfan anemia 1 RCV000033182.3
3875 chr19 42373208 42373208 1 + C T SKCM 42373198 + 42373178 42373218 41 AGAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAA AGAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCTCCAA < 41bp 1 0.13261825134272 1 0.480832546949387 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373198 chr19:42373208 stopgain 0.999 1 31 hm5C_associated_SNPs_33646 2 Pathogenic not provided RCV000272977.1
3875 chr19 42373208 42373208 1 + C T SKCM 42373199 + 42373179 42373219 41 GAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAG GAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCTCCAAG < 41bp 1 0.189321505833674 1 0.251600384712219 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373199 chr19:42373208 stopgain 0.999 1 30 hm5C_associated_SNPs_33647 2 Pathogenic Diamond-Blackfan anemia 1 RCV000033182.3
3875 chr19 42373208 42373208 1 + C T SKCM 42373199 + 42373179 42373219 41 GAAACGGCGTCATGCCCAGCCACTTCAGCCGAGGCTCCAAG GAAACGGCGTCATGCCCAGCCACTTCAGCTGAGGCTCCAAG < 41bp 1 0.189321505833674 1 0.251600384712219 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373199 chr19:42373208 stopgain 0.999 1 30 hm5C_associated_SNPs_33647 2 Pathogenic not provided RCV000272977.1
3875 chr19 42373208 42373208 1 + C T SKCM 42373215 + 42373195 42373235 41 CAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGG CAGCCACTTCAGCTGAGGCTCCAAGAGTGTGGCCCGCCGGG < 41bp 1 0.271891267936129 1 0.364092320203781 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373215 chr19:42373208 stopgain 0.999 1 14 hm5C_associated_SNPs_33648 2 Pathogenic Diamond-Blackfan anemia 1 RCV000033182.3
3875 chr19 42373208 42373208 1 + C T SKCM 42373215 + 42373195 42373235 41 CAGCCACTTCAGCCGAGGCTCCAAGAGTGTGGCCCGCCGGG CAGCCACTTCAGCTGAGGCTCCAAGAGTGTGGCCCGCCGGG < 41bp 1 0.271891267936129 1 0.364092320203781 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373215 chr19:42373208 stopgain 0.999 1 14 hm5C_associated_SNPs_33648 2 Pathogenic not provided RCV000272977.1
3875 chr19 42373208 42373208 1 + C T SKCM 42373228 + 42373208 42373248 41 CGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCT TGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCT < 41bp 1 0.275680391513238 1 0.0794028043746948 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373228 chr19:42373208 stopgain 0.999 1 1 hm5C_associated_SNPs_33649 2 Pathogenic Diamond-Blackfan anemia 1 RCV000033182.3
3875 chr19 42373208 42373208 1 + C T SKCM 42373228 + 42373208 42373248 41 CGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCT TGAGGCTCCAAGAGTGTGGCCCGCCGGGTCCTCCAAGCCCT < 41bp 1 0.275680391513238 1 0.0794028043746948 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control RPS19 ENSG00000105372 CDS Human protein_coding chr19:42373228 chr19:42373208 stopgain 0.999 1 1 hm5C_associated_SNPs_33649 2 Pathogenic not provided RCV000272977.1
3875 chr1 156106056 156106056 1 + C T SKCM 156106055 + 156106035 156106075 41 GCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACAC GCGCAGCCGTGGCCGTGCTTCTTCTCACTCATCCCAGACAC < 41bp 1 0.437008659685853 1 0.200363159179688 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156106055 chr1:156106056 synonymous SNV . 0 22 hm5C_associated_SNPs_33992 1 Likely benign not specified RCV000424680.1
3875 chr5 36985776 36985776 1 + C T SKCM 36985791 + 36985771 36985811 41 CAGAGCGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCA CAGAGTGACATCGAGGGGATCAGTCTAGGGTTCGAAGACCA < 41bp 1 0.140721171133601 1 0.0675322413444519 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NIPBL ENSG00000164190 CDS Human protein_coding chr5:36985791 chr5:36985776 stopgain 1.000 1 6 hm5C_associated_SNPs_34055 1 Pathogenic Cornelia de Lange syndrome 1 RCV000146549.1
3875 chr12 112926270 112926270 1 + C T SKCM 112926274 + 112926254 112926294 41 ATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTAT ATTGGCCGGACAGGGATGTTCATTGTGATTGATATTCTTAT < 41bp 1 0.191209225188158 1 0.0260994136333466 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926274 chr12:112926270 nonsynonymous SNV 0.971 5 17 hm5C_associated_SNPs_34611 7 Pathogenic Rasopathy RCV000033533.9
3875 chr12 112926270 112926270 1 + C T SKCM 112926274 + 112926254 112926294 41 ATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTAT ATTGGCCGGACAGGGATGTTCATTGTGATTGATATTCTTAT < 41bp 1 0.191209225188158 1 0.0260994136333466 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926274 chr12:112926270 nonsynonymous SNV 0.971 5 17 hm5C_associated_SNPs_34611 7 Pathogenic LEOPARD syndrome 1 RCV000055884.6
3875 chr12 112926270 112926270 1 + C T SKCM 112926274 + 112926254 112926294 41 ATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTAT ATTGGCCGGACAGGGATGTTCATTGTGATTGATATTCTTAT < 41bp 1 0.191209225188158 1 0.0260994136333466 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926274 chr12:112926270 nonsynonymous SNV 0.971 5 17 hm5C_associated_SNPs_34611 7 other not provided RCV000077851.5
3875 chr12 112926270 112926270 1 + C T SKCM 112926274 + 112926254 112926294 41 ATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTAT ATTGGCCGGACAGGGATGTTCATTGTGATTGATATTCTTAT < 41bp 1 0.191209225188158 1 0.0260994136333466 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926274 chr12:112926270 nonsynonymous SNV 0.971 5 17 hm5C_associated_SNPs_34611 7 Pathogenic Noonan syndrome 1 RCV000106323.1
3875 chr12 112926270 112926270 1 + C T SKCM 112926274 + 112926254 112926294 41 ATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTAT ATTGGCCGGACAGGGATGTTCATTGTGATTGATATTCTTAT < 41bp 1 0.191209225188158 1 0.0260994136333466 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926274 chr12:112926270 nonsynonymous SNV 0.971 5 17 hm5C_associated_SNPs_34611 7 Pathogenic Noonan syndrome RCV000157014.1
3875 chr12 112926270 112926270 1 + C T SKCM 112926274 + 112926254 112926294 41 ATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTAT ATTGGCCGGACAGGGATGTTCATTGTGATTGATATTCTTAT < 41bp 1 0.191209225188158 1 0.0260994136333466 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926274 chr12:112926270 nonsynonymous SNV 0.971 5 17 hm5C_associated_SNPs_34611 7 Pathogenic Noonan syndrome with multiple lentigines RCV000208002.1
3875 chr12 112926270 112926270 1 + C T SKCM 112926274 + 112926254 112926294 41 ATTGGCCGGACAGGGACGTTCATTGTGATTGATATTCTTAT ATTGGCCGGACAGGGATGTTCATTGTGATTGATATTCTTAT < 41bp 1 0.191209225188158 1 0.0260994136333466 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926274 chr12:112926270 nonsynonymous SNV 0.971 5 17 hm5C_associated_SNPs_34611 7 Pathogenic Cardiovascular phenotype RCV000247771.1
3875 chr9 133355802 133355802 1 + C T SKCM 133355811 + 133355791 133355831 41 CGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTC CGTATTGACATTGTGGAGAACCGCTTCATTGGAATGAAGTC < 41bp 1 0.105847774987565 1 0.070110023021698 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ASS1 ENSG00000130707 CDS Human protein_coding chr9:133355811 chr9:133355802 synonymous SNV . 0 12 hm5C_associated_SNPs_35386 1 Likely benign not specified RCV000251208.1
3875 chr11 108205756 108205756 1 + C T SKCM 108205739 + 108205719 108205759 41 AAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTCGCT AAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTTGCT < 41bp 1 0.021401357729521 1 0.057466983795166 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ATM ENSG00000149311 CDS Human protein_coding chr11:108205739 chr11:108205756 nonsynonymous SNV 1.000 2 38 hm5C_associated_SNPs_35713 3 Uncertain significance not specified RCV000120161.1
3875 chr11 108205756 108205756 1 + C T SKCM 108205739 + 108205719 108205759 41 AAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTCGCT AAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTTGCT < 41bp 1 0.021401357729521 1 0.057466983795166 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ATM ENSG00000149311 CDS Human protein_coding chr11:108205739 chr11:108205756 nonsynonymous SNV 1.000 2 38 hm5C_associated_SNPs_35713 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000131504.4
3875 chr11 108205756 108205756 1 + C T SKCM 108205739 + 108205719 108205759 41 AAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTCGCT AAATCTGGTGACTATACAGTCATTTAAAGCAGAATTTTGCT < 41bp 1 0.021401357729521 1 0.057466983795166 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ATM ENSG00000149311 CDS Human protein_coding chr11:108205739 chr11:108205756 nonsynonymous SNV 1.000 2 38 hm5C_associated_SNPs_35713 3 Uncertain significance Ataxia-telangiectasia syndrome RCV000199628.3
3875 chr18 3457604 3457604 1 + C T SKCM 3457613 + 3457593 3457633 41 TAAGCCGTCATCCCCGGGATCAGTTTTGGCTCGTCCATCAG TAAGCCGTCATTCCCGGGATCAGTTTTGGCTCGTCCATCAG < 41bp 1 0.278471995770766 1 0.0554702579975128 experiment 1 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457613 chr18:3457604 nonsynonymous SNV 0.010 2 12 hm5C_associated_SNPs_35818 1 Pathogenic Holoprosencephaly 4 RCV000007397.3
3875 chr18 3457604 3457604 1 + C T SKCM 3457622 + 3457602 3457642 41 ATCCCCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC ATTCCCGGGATCAGTTTTGGCTCGTCCATCAGTGATCTGCC < 41bp 1 0.663536416739039 1 0.243398427963257 experiment 0.672927166521923 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control TGIF1 ENSG00000177426 CDS Human protein_coding chr18:3457622 chr18:3457604 nonsynonymous SNV 0.010 2 3 hm5C_associated_SNPs_35819 1 Pathogenic Holoprosencephaly 4 RCV000007397.3
3875 chr20 43052675 43052675 1 + G A SKCM 43052674 + 43052654 43052694 41 GTAGATGCCAAGGGGCTGAGCGATCCAGGGAAGATCAAGCG GTAGATGCCAAGGGGCTGAGCAATCCAGGGAAGATCAAGCG < 41bp 1 0.12363759056106 1 0.286897897720337 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control HNF4A ENSG00000101076 CDS Human protein_coding chr20:43052674 chr20:43052675 nonsynonymous SNV 0.925 2 22 hm5C_associated_SNPs_36072 1 Uncertain significance Monogenic diabetes RCV000445391.1
3875 chr18 48604711 48604711 1 + G A SKCM 48604710 + 48604690 48604730 41 TTTTGTGAAAGGCTGGGGACCGGATTACCCAAGACAGAGCA TTTTGTGAAAGGCTGGGGACCAGATTACCCAAGACAGAGCA < 41bp 1 0.413381793688056 1 0.594128489494324 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48604710 chr18:48604711 synonymous SNV . 0 22 hm5C_associated_SNPs_36277 1 Likely benign not specified RCV000437684.1
3875 chr9 133355792 133355792 1 + G A STAD 133355811 + 133355791 133355831 41 CGTATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTC CATATTGACATCGTGGAGAACCGCTTCATTGGAATGAAGTC < 41bp 1 0.111804999385471 1 0.0943539440631866 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control ASS1 ENSG00000130707 CDS Human protein_coding chr9:133355811 chr9:133355792 nonsynonymous SNV 0.962 3 2 hm5C_associated_SNPs_36566 1 other Citrullinemia type I RCV000078026.4
3875 chr19 11145661 11145661 1 + C T STAD 11145668 + 11145648 11145688 41 TCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGAC TCATGGAGGAGGATGAGCTCCCCTCGTGGATCATCAAGGAC < 41bp 1 0.0827526336081315 1 0.112086802721024 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145668 chr19:11145661 synonymous SNV . 0 14 hm5C_associated_SNPs_36740 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000467227.1
3875 chr19 11145661 11145661 1 + C T STAD 11145669 + 11145649 11145689 41 CATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACG CATGGAGGAGGATGAGCTCCCCTCGTGGATCATCAAGGACG < 41bp 1 0.203049374546142 1 0.162261873483658 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145669 chr19:11145661 synonymous SNV . 0 13 hm5C_associated_SNPs_36741 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000467227.1
3875 chr19 11145661 11145661 1 + C T STAD 11145672 + 11145652 11145692 41 GGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACG GGAGGAGGATGAGCTCCCCTCGTGGATCATCAAGGACGACG < 41bp 1 0.587987184946768 1 0.696264922618866 experiment 0.824025630106465 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145672 chr19:11145661 synonymous SNV . 0 10 hm5C_associated_SNPs_36742 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000467227.1
3875 chrX 100668147 100668147 1 + G A STAD 100668159 + 100668139 100668179 41 GTGGTGGCGCTTATGGTAGCCAAATGATGGGAGGGATGGGC GTGGTGGCACTTATGGTAGCCAAATGATGGGAGGGATGGGC < 41bp 1 0.467865498958921 1 0.779251337051392 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient HNRNPH2 ENSG00000126945 CDS Human protein_coding chrX:100668159 chrX:100668147 nonsynonymous SNV 0.999 2 9 hm5C_associated_SNPs_37274 1 Uncertain significance not specified RCV000498285.1
3875 chr17 29560174 29560174 1 + T G STAD 29560175 + 29560155 29560195 41 TGGTCACAATGATGGGTGATCAAGGAGAACTCCCTATAGCG TGGTCACAATGATGGGTGAGCAAGGAGAACTCCCTATAGCG < 41bp 1 0.391118394905159 1 0.61098700761795 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control NF1 ENSG00000196712 CDS Human protein_coding chr17:29560175 chr17:29560174 nonsynonymous SNV 0.998 4 20 hm5C_associated_SNPs_37342 1 Uncertain significance Neurofibromatosis, type 1 RCV000497024.1
3875 chr3 37090086 37090086 1 + C T STAD 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTTGA < 41bp 1 0.340295655963334 1 0.050257533788681 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090086 stopgain 0.997 1 39 hm5C_associated_SNPs_37363 3 Pathogenic Lynch syndrome RCV000075444.2
3875 chr3 37090086 37090086 1 + C T STAD 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTTGA < 41bp 1 0.340295655963334 1 0.050257533788681 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090086 stopgain 0.997 1 39 hm5C_associated_SNPs_37363 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000128869.3
3875 chr3 37090086 37090086 1 + C T STAD 37090068 + 37090048 37090088 41 ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTCGA ATGTGCCCCCTTTGGAGGGACTGCCTATCTTCATTCTTTGA < 41bp 1 0.340295655963334 1 0.050257533788681 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control MLH1 ENSG00000076242 CDS Human protein_coding chr3:37090068 chr3:37090086 stopgain 0.997 1 39 hm5C_associated_SNPs_37363 3 Pathogenic not provided RCV000202252.2
3875 chrX 48759706 48759706 1 + C T STAD 48759703 + 48759683 48759723 41 GACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGA GACAGGGAACGGGATCGGGACCGTGGGTATGACAAGGCAGA < 41bp 1 0.288748971675202 1 0.0604234337806702 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759703 chrX:48759706 synonymous SNV . 0 24 hm5C_associated_SNPs_37616 1 Uncertain significance not specified RCV000502523.1
3875 chrX 48759706 48759706 1 + C T STAD 48759704 + 48759684 48759724 41 ACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAGAC ACAGGGAACGGGATCGGGACCGTGGGTATGACAAGGCAGAC < 41bp 1 0.768180313319993 1 0.527259349822998 experiment 0.463639373360014 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control|30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759704 chrX:48759706 synonymous SNV . 0 23 hm5C_associated_SNPs_37617 1 Uncertain significance not specified RCV000502523.1
3875 chrX 48759706 48759706 1 + C T STAD 48759720 + 48759700 48759740 41 GGACCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAG GGACCGTGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAG < 41bp 1 0.589656423865928 1 0.139460146427155 experiment 0.820687152268145 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control|30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759720 chrX:48759706 synonymous SNV . 0 7 hm5C_associated_SNPs_37618 1 Uncertain significance not specified RCV000502523.1
3875 chr2 219679346 219679346 1 + C T STAD 219679360 + 219679340 219679380 41 CCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAG CCCCACTGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAG < 41bp 1 0.459350611691194 1 0.246145486831665 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control CYP27A1 ENSG00000135929 CDS Human protein_coding chr2:219679360 chr2:219679346 nonsynonymous SNV 0.580 5 7 hm5C_associated_SNPs_37790 2 Likely pathogenic Regression of motor development with severe dystonia and corresponding basal ganglia lesions RCV000162100.1
3875 chr2 219679346 219679346 1 + C T STAD 219679360 + 219679340 219679380 41 CCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAG CCCCACTGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAG < 41bp 1 0.459350611691194 1 0.246145486831665 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control CYP27A1 ENSG00000135929 CDS Human protein_coding chr2:219679360 chr2:219679346 nonsynonymous SNV 0.580 5 7 hm5C_associated_SNPs_37790 2 Likely pathogenic not provided RCV000171331.1
3875 chr19 50906824 50906824 1 + G A STAD 50906843 + 50906823 50906863 41 CGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCT CATACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCT < 41bp 1 0.0702555718313528 1 0.229276388883591 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906843 chr19:50906824 synonymous SNV . 0 2 hm5C_associated_SNPs_37989 2 Likely benign not specified RCV000431427.1
3875 chr19 50906824 50906824 1 + G A STAD 50906843 + 50906823 50906863 41 CGTACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCT CATACCTCATCTCTCGGGCCCAGACCCTCAAGGTGAGGGCT < 41bp 1 0.0702555718313528 1 0.229276388883591 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906843 chr19:50906824 synonymous SNV . 0 2 hm5C_associated_SNPs_37989 2 Likely benign Colorectal cancer 10 RCV000457147.1
3875 chr11 68204455 68204455 1 + G A STAD 68204450 + 68204430 68204470 41 CCCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTG CCCCGACTGTATCGACGGCTCCGACAAGCTCATGTGTGGTG < 41bp 1 0.108792920319756 1 0.105674684047699 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control LRP5 ENSG00000162337 CDS Human protein_coding chr11:68204450 chr11:68204455 nonsynonymous SNV 0.875 4 26 hm5C_associated_SNPs_38136 1 Pathogenic Exudative vitreoretinopathy 4, autosomal recessive RCV000006671.2
3875 chr11 68204455 68204455 1 + G A STAD 68204451 + 68204431 68204471 41 CCCGACTGTATCGACGGCTCCGACGAGCTCATGTGTGGTGA CCCGACTGTATCGACGGCTCCGACAAGCTCATGTGTGGTGA < 41bp 1 0.539620163757533 1 0.61544668674469 experiment 0.920759672484935 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control LRP5 ENSG00000162337 CDS Human protein_coding chr11:68204451 chr11:68204455 nonsynonymous SNV 0.875 4 25 hm5C_associated_SNPs_38137 1 Pathogenic Exudative vitreoretinopathy 4, autosomal recessive RCV000006671.2
3875 chr18 2667021 2667021 1 + A C STAD 2667024 + 2667004 2667044 41 ATGCCAGTGAAGGACAAAATCCTTTGCGTAAGTATCCCATT ATGCCAGTGAAGGACAACATCCTTTGCGTAAGTATCCCATT < 41bp 1 0.0365994015254653 1 0.0569356977939606 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control SMCHD1 ENSG00000101596 CDS Human protein_coding chr18:2667024 chr18:2667021 nonsynonymous SNV 0.997 4 18 hm5C_associated_SNPs_38158 1 Pathogenic Arhinia choanal atresia microphthalmia RCV000497008.1
3875 chr3 10191562 10191562 1 + C T STAD 10191581 + 10191561 10191601 41 ACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG ATGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG < 41bp 1 0.49730646114902 1 0.254731416702271 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VHL ENSG00000134086 CDS Human protein_coding chr3:10191581 chr3:10191562 synonymous SNV . 0 2 hm5C_associated_SNPs_38439 3 Likely benign Erythrocytosis, familial, 2 RCV000205143.2
3875 chr3 10191562 10191562 1 + C T STAD 10191581 + 10191561 10191601 41 ACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG ATGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG < 41bp 1 0.49730646114902 1 0.254731416702271 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VHL ENSG00000134086 CDS Human protein_coding chr3:10191581 chr3:10191562 synonymous SNV . 0 2 hm5C_associated_SNPs_38439 3 Likely benign Von Hippel-Lindau syndrome RCV000205143.2
3875 chr3 10191562 10191562 1 + C T STAD 10191581 + 10191561 10191601 41 ACGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG ATGAAGATCTGGAAGACCACCCAAATGTGCAGAAAGACCTG < 41bp 1 0.49730646114902 1 0.254731416702271 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control VHL ENSG00000134086 CDS Human protein_coding chr3:10191581 chr3:10191562 synonymous SNV . 0 2 hm5C_associated_SNPs_38439 3 Likely benign not specified RCV000445253.1
3875 chr5 167943865 167943865 1 + G A TGCT 167943878 + 167943858 167943898 41 CATAACCGGTTGAATGACTACATCTTCTCCTTTGACAAAAT CATAACCAGTTGAATGACTACATCTTCTCCTTTGACAAAAT < 41bp 1 0.173012317327222 1 0.0913183093070984 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control RARS ENSG00000113643 CDS Human protein_coding chr5:167943878 chr5:167943865 nonsynonymous SNV 0.958 4 8 hm5C_associated_SNPs_38756 1 Pathogenic Leukodystrophy, hypomyelinating, 9 RCV000149502.3
3875 chr21 47754549 47754549 1 + G A THCA 47754537 + 47754517 47754557 41 GTTCACAGTCAGTGACCACCCACCAGAACAGCGTGGGATGT GTTCACAGTCAGTGACCACCCACCAGAACAGCATGGGATGT < 41bp 1 0.639630190210017 1 0.44295808672905 experiment 0.720739619579967 Functional Loss 28418038;GSE74774;RNA-BisSeq;MRC-5;Control PCNT ENSG00000160299 CDS Human protein_coding chr21:47754537 chr21:47754549 nonsynonymous SNV 0.028 1 33 hm5C_associated_SNPs_38809 1 Benign not specified RCV000147142.1
3875 chr7 142460764 142460764 1 + G A THCA 142460745 + 142460725 142460765 41 TCTGGTGGCCCTGTGGTCTGCAATGGACAGCTCCAAGGAGT TCTGGTGGCCCTGTGGTCTGCAATGGACAGCTCCAAGGAAT < 41bp 1 0.453954178838711 1 0.0665649175643921 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient|31358969;GSE133672;RNA-BisSeq;T24;Control PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460745 chr7:142460764 nonsynonymous SNV 0.003 1 40 hm5C_associated_SNPs_38889 1 Benign not specified RCV000239335.1
3875 chr7 142460764 142460764 1 + G A THCA 142460757 + 142460737 142460777 41 GTGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGG GTGGTCTGCAATGGACAGCTCCAAGGAATTGTCTCCTGGGG < 41bp 1 0.288484322171466 1 0.652390241622925 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460757 chr7:142460764 nonsynonymous SNV 0.003 1 28 hm5C_associated_SNPs_38890 1 Benign not specified RCV000239335.1
3875 chr7 142460764 142460764 1 + G A THCA 142460758 + 142460738 142460778 41 TGGTCTGCAATGGACAGCTCCAAGGAGTTGTCTCCTGGGGT TGGTCTGCAATGGACAGCTCCAAGGAATTGTCTCCTGGGGT < 41bp 1 0.481254923413216 1 0.503956079483032 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460758 chr7:142460764 nonsynonymous SNV 0.003 1 27 hm5C_associated_SNPs_38891 1 Benign not specified RCV000239335.1
3875 chr7 142460764 142460764 1 + G A THCA 142460769 + 142460749 142460789 41 GGACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGC GGACAGCTCCAAGGAATTGTCTCCTGGGGTGATGGCTGTGC < 41bp 1 0.603992179543635 1 0.756456732749939 experiment 0.79201564091273 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460769 chr7:142460764 nonsynonymous SNV 0.003 1 16 hm5C_associated_SNPs_38892 1 Benign not specified RCV000239335.1
3875 chr7 142460764 142460764 1 + G A THCA 142460771 + 142460751 142460791 41 ACAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGCCC ACAGCTCCAAGGAATTGTCTCCTGGGGTGATGGCTGTGCCC < 41bp 1 0.287560121003107 1 0.819860696792603 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460771 chr7:142460764 nonsynonymous SNV 0.003 1 14 hm5C_associated_SNPs_38893 1 Benign not specified RCV000239335.1
3875 chr7 142460764 142460764 1 + G A THCA 142460772 + 142460752 142460792 41 CAGCTCCAAGGAGTTGTCTCCTGGGGTGATGGCTGTGCCCA CAGCTCCAAGGAATTGTCTCCTGGGGTGATGGCTGTGCCCA < 41bp 1 0.755667315895528 1 0.880256175994873 experiment 0.488665368208943 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460772 chr7:142460764 nonsynonymous SNV 0.003 1 13 hm5C_associated_SNPs_38894 1 Benign not specified RCV000239335.1
3875 chr7 142460764 142460764 1 + G A THCA 142460784 + 142460764 142460804 41 GTTGTCTCCTGGGGTGATGGCTGTGCCCAGAAGAACAAGCC ATTGTCTCCTGGGGTGATGGCTGTGCCCAGAAGAACAAGCC < 41bp 1 0.353228826380365 1 0.506304323673248 experiment 1 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient PRSS1 ENSG00000204983 CDS Human protein_coding chr7:142460784 chr7:142460764 nonsynonymous SNV 0.003 1 1 hm5C_associated_SNPs_38895 1 Benign not specified RCV000239335.1
3875 chr3 123348380 123348380 1 + G A UCEC 123348379 + 123348359 123348399 41 GGCATCGTCGGAGATCTCATCGAATGCCTCGTCGTCGAAGT GGCATCGTCGGAGATCTCATCAAATGCCTCGTCGTCGAAGT < 41bp 1 0.494598363774074 1 0.367176234722137 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MYLK ENSG00000065534 CDS Human protein_coding chr3:123348379 chr3:123348380 synonymous SNV . 0 22 hm5C_associated_SNPs_39089 1 Likely benign not specified RCV000426579.1
3875 chr19 11145694 11145694 1 + G A UCEC 11145691 + 11145671 11145711 41 TCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGAC TCGTGGATCATCAAGGACGACGCAGAGGTGGAGCGGCTGAC < 41bp 1 0.480335423559285 1 0.429898858070374 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145691 chr19:11145694 synonymous SNV . 0 24 hm5C_associated_SNPs_39169 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000474371.1
3875 chr19 11145694 11145694 1 + G A UCEC 11145704 + 11145684 11145724 41 AGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAG AGGACGACGCAGAGGTGGAGCGGCTGACCTGTGAGGAGGAG < 41bp 1 0.441807766425197 1 0.493819922208786 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145704 chr19:11145694 synonymous SNV . 0 11 hm5C_associated_SNPs_39170 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000474371.1
3875 chr19 11145694 11145694 1 + G A UCEC 11145707 + 11145687 11145727 41 ACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG ACGACGCAGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAG < 41bp 1 0.206529144721142 1 0.434219300746918 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11145707 chr19:11145694 synonymous SNV . 0 8 hm5C_associated_SNPs_39171 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000474371.1
3875 chr15 32920998 32920998 1 + G T UCEC 32920986 + 32920966 32921006 41 CAGAACACCTTCTATTACACCTCAAGAAGAAAGAATTGGTA CAGAACACCTTCTATTACACCTCAAGAAGAAATAATTGGTA < 41bp 1 0.427689556267967 1 0.379138350486755 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ARHGAP11A ENSG00000198826 CDS Human protein_coding chr15:32920986 chr15:32920998 nonsynonymous SNV 0.006 1 33 hm5C_associated_SNPs_39190 2 Likely benign Autism spectrum disorders RCV000172925.1
3875 chr15 32920998 32920998 1 + G T UCEC 32920986 + 32920966 32921006 41 CAGAACACCTTCTATTACACCTCAAGAAGAAAGAATTGGTA CAGAACACCTTCTATTACACCTCAAGAAGAAATAATTGGTA < 41bp 1 0.427689556267967 1 0.379138350486755 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ARHGAP11A ENSG00000198826 CDS Human protein_coding chr15:32920986 chr15:32920998 nonsynonymous SNV 0.006 1 33 hm5C_associated_SNPs_39190 2 Likely benign Macrocephaly RCV000172925.1
3875 chr12 112940031 112940031 1 + G A UCEC 112940029 + 112940009 112940049 41 GTGGAGATCAGAGCCCTCTCCCGCCTTGTACTCCAACGCCA GTGGAGATCAGAGCCCTCTCCCACCTTGTACTCCAACGCCA < 41bp 1 0.234074275102614 1 0.0664404928684235 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112940029 chr12:112940031 synonymous SNV . 0 23 hm5C_associated_SNPs_39214 1 Likely benign not specified RCV000037624.3
3875 chr11 67258381 67258381 1 + C T UCEC 67258390 + 67258370 67258410 41 CTGTGGTGAGCCGAGAGCTGCAGGCCCTGGAGGCACGGATC CTGTGGTGAGCTGAGAGCTGCAGGCCCTGGAGGCACGGATC < 41bp 1 0.591498846492498 1 0.645862817764282 experiment 0.817002307015005 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control AIP ENSG00000110711 CDS Human protein_coding chr11:67258390 chr11:67258381 stopgain 0.972 0 12 hm5C_associated_SNPs_39346 1 Pathogenic Somatotroph adenoma RCV000005166.3
3875 chr4 159627843 159627843 1 + G A UCEC 159627823 + 159627803 159627843 41 GCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCG GCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCA < 41bp 1 0.142237487591441 1 0.11455512046814 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627823 chr4:159627843 nonsynonymous SNV 0.873 5 41 hm5C_associated_SNPs_39422 2 Uncertain significance not specified RCV000174333.1
3875 chr4 159627843 159627843 1 + G A UCEC 159627823 + 159627803 159627843 41 GCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCG GCCAGCCAAGGATTGCACACCTATTGAGTATCCAAAACCCA < 41bp 1 0.142237487591441 1 0.11455512046814 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627823 chr4:159627843 nonsynonymous SNV 0.873 5 41 hm5C_associated_SNPs_39422 2 Likely pathogenic Glutaric aciduria, type 2 RCV000275519.1
3875 chr17 4856575 4856575 1 + C T UCEC 4856570 + 4856550 4856590 41 CAAACTCACCCTTCCAGAAACTAAGCGTTGTGGATCAAGAA CAAACTCACCCTTCCAGAAACTAAGTGTTGTGGATCAAGAA < 41bp 1 0.204493093070348 1 0.183000952005386 experiment 1 Functional Loss 31358969;GSE133672;RNA-BisSeq;T24;Control ENO3 ENSG00000108515 CDS Human protein_coding chr17:4856570 chr17:4856575 synonymous SNV . 0 26 hm5C_associated_SNPs_39622 1 Likely benign not specified RCV000443689.1
3875 chr3 38524764 38524764 1 + G A UCEC 38524770 + 38524750 38524790 41 CCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTCACCAAT CCTCGGACTGTCTCATTTCCCTGGTGACCTCTGTCACCAAT < 41bp 1 0.797859645117771 1 0.67262589931488 experiment 0.404280709764457 Functional Loss 31358969;GSE133671;RNA-BisSeq;T24;NSUN2 deficient ACVR2B ENSG00000114739 CDS Human protein_coding chr3:38524770 chr3:38524764 nonsynonymous SNV 0.996 1 15 hm5C_associated_SNPs_39698 1 Pathogenic Heterotaxy, visceral, 4, autosomal RCV000007262.2
3875 chrX 152958756 152958756 1 + C T UCEC 152958738 + 152958718 152958758 41 GTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTACGC GTGTGGATAGATGCGGGGACCCAGATTTTCTTTTCTTATGC < 41bp 1 0.568779784614126 1 0.143645882606506 experiment 0.862440430771748 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control SLC6A8 ENSG00000130821 CDS Human protein_coding chrX:152958738 chrX:152958756 synonymous SNV . 0 39 hm5C_associated_SNPs_39713 1 Likely benign not specified RCV000418108.1
3875 chr3 45557711 45557711 1 + C T UCEC 45557701 + 45557681 45557721 41 GTTGTGGAGCAGTATGGGATCGACACGATTCGGCTCTACAT GTTGTGGAGCAGTATGGGATCGACACGATTTGGCTCTACAT < 41bp 1 0.76344790735627 1 0.730009198188782 experiment 0.47310418528746 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control LARS2 ENSG00000011376 CDS Human protein_coding chr3:45557701 chr3:45557711 nonsynonymous SNV 0.466 5 31 hm5C_associated_SNPs_39876 1 Pathogenic Perrault syndrome 4 RCV000496181.1
3875 chrX 69699063 69699063 1 + G A UCEC 69699058 + 69699038 69699078 41 GAACAAATGATGAACAGCAGCATGAGCTCTGGGTCTGGGTC GAACAAATGATGAACAGCAGCATGAACTCTGGGTCTGGGTC < 41bp 1 0.351438557572926 1 0.314038217067719 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DLG3 ENSG00000082458 CDS Human protein_coding chrX:69699058 chrX:69699063 nonsynonymous SNV 0.999 3 26 hm5C_associated_SNPs_39882 2 Uncertain significance Seizure Disorders RCV000415247.1
3875 chrX 69699063 69699063 1 + G A UCEC 69699058 + 69699038 69699078 41 GAACAAATGATGAACAGCAGCATGAGCTCTGGGTCTGGGTC GAACAAATGATGAACAGCAGCATGAACTCTGGGTCTGGGTC < 41bp 1 0.351438557572926 1 0.314038217067719 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DLG3 ENSG00000082458 CDS Human protein_coding chrX:69699058 chrX:69699063 nonsynonymous SNV 0.999 3 26 hm5C_associated_SNPs_39882 2 Uncertain significance intellectual deficiency RCV000415247.1
3875 chr7 55259433 55259433 1 + C T UCEC 55259432 + 55259412 55259452 41 GGCATGAACTACTTGGAGGACCGTCGCTTGGTGCACCGCGA GGCATGAACTACTTGGAGGACTGTCGCTTGGTGCACCGCGA < 41bp 1 0.185186361130731 1 0.160867035388947 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control EGFR ENSG00000146648 CDS Human protein_coding chr7:55259432 chr7:55259433 nonsynonymous SNV 0.998 5 22 hm5C_associated_SNPs_40195 1 Uncertain significance not specified RCV000038432.2
3875 chr11 108151823 108151823 1 + C T UCEC 108151830 + 108151810 108151850 41 GTAGCCCTATCTGCGAAAAACAGGCTTTGTTTGCCCTGTGT GTAGCCCTATCTGTGAAAAACAGGCTTTGTTTGCCCTGTGT < 41bp 1 0.313389015226977 1 0.213575839996338 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ATM ENSG00000149311 CDS Human protein_coding chr11:108151830 chr11:108151823 synonymous SNV . 0 14 hm5C_associated_SNPs_40197 3 Likely benign Hereditary cancer-predisposing syndrome RCV000223130.1
3875 chr11 108151823 108151823 1 + C T UCEC 108151830 + 108151810 108151850 41 GTAGCCCTATCTGCGAAAAACAGGCTTTGTTTGCCCTGTGT GTAGCCCTATCTGTGAAAAACAGGCTTTGTTTGCCCTGTGT < 41bp 1 0.313389015226977 1 0.213575839996338 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ATM ENSG00000149311 CDS Human protein_coding chr11:108151830 chr11:108151823 synonymous SNV . 0 14 hm5C_associated_SNPs_40197 3 Likely benign Ataxia-telangiectasia syndrome RCV000230054.1
3875 chr11 108151823 108151823 1 + C T UCEC 108151830 + 108151810 108151850 41 GTAGCCCTATCTGCGAAAAACAGGCTTTGTTTGCCCTGTGT GTAGCCCTATCTGTGAAAAACAGGCTTTGTTTGCCCTGTGT < 41bp 1 0.313389015226977 1 0.213575839996338 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control ATM ENSG00000149311 CDS Human protein_coding chr11:108151830 chr11:108151823 synonymous SNV . 0 14 hm5C_associated_SNPs_40197 3 Likely benign not specified RCV000444671.1
3875 chr2 219679347 219679347 1 + G A UCEC 219679360 + 219679340 219679380 41 CCCCACCGCTGGCTGAGAAACAGCCAGCCTGCTACCCCCAG CCCCACCACTGGCTGAGAAACAGCCAGCCTGCTACCCCCAG < 41bp 1 0.459297450464685 1 0.214713901281357 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control|28418038;GSE74775;RNA-BisSeq;SNB19;Control CYP27A1 ENSG00000135929 CDS Human protein_coding chr2:219679360 chr2:219679347 nonsynonymous SNV 0.637 5 8 hm5C_associated_SNPs_40338 1 Uncertain significance not specified RCV000180185.2
3875 chr4 1806243 1806243 1 + G A UCEC 1806242 + 1806222 1806262 41 TCTCCCGCTTCCCGCTCAAGCGACAGGTAACAGAAAGTAGA TCTCCCGCTTCCCGCTCAAGCAACAGGTAACAGAAAGTAGA < 41bp 1 0.54136770529949 1 0.531539916992188 experiment 0.91726458940102 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FGFR3 ENSG00000068078 CDS Human protein_coding chr4:1806242 chr4:1806243 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_40792 1 not provided not specified RCV000121078.1
3875 chr17 75398198 75398198 1 + G A UCEC 75398205 + 75398185 75398225 41 TCCACCCCACCCCGGAGGGTCCAGACTCCCCTACTCCGAGC TCCACCCCACCCCAGAGGGTCCAGACTCCCCTACTCCGAGC < 41bp 1 0.31189833990089 1 0.157963871955872 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control SEPT9 ENSG00000184640 CDS Human protein_coding chr17:75398205 chr17:75398198 nonsynonymous SNV 0.997 3 14 hm5C_associated_SNPs_40928 1 Uncertain significance Hereditary Neuralgic Amyotrophy (HNA) RCV000380185.1
3875 chr1 12061532 12061532 1 + C T UCEC 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCTGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.281834930464635 1 0.0981212854385376 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061532 synonymous SNV . 0 9 hm5C_associated_SNPs_41246 4 Uncertain significance Charcot-Marie-Tooth, Type 2 RCV000287228.1
3875 chr1 12061532 12061532 1 + C T UCEC 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCTGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.281834930464635 1 0.0981212854385376 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061532 synonymous SNV . 0 9 hm5C_associated_SNPs_41246 4 Uncertain significance Hereditary motor and sensory neuropathy RCV000379089.1
3875 chr1 12061532 12061532 1 + C T UCEC 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCTGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.281834930464635 1 0.0981212854385376 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061532 synonymous SNV . 0 9 hm5C_associated_SNPs_41246 4 Benign not specified RCV000424364.1
3875 chr1 12061532 12061532 1 + C T UCEC 12061544 + 12061524 12061564 41 TCCCAGGCCGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA TCCCAGGCTGGGGACCGCATCTTCTTTGTGTCTGCTAAGGA < 41bp 1 0.281834930464635 1 0.0981212854385376 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MFN2 ENSG00000116688 CDS Human protein_coding chr1:12061544 chr1:12061532 synonymous SNV . 0 9 hm5C_associated_SNPs_41246 4 Likely benign Charcot-Marie-Tooth disease, type 2 RCV000474860.1
3875 chr1 156106048 156106048 1 + C T UCEC 156106055 + 156106035 156106075 41 GCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACAC GCGCAGCCGTGGCTGTGCTTCCTCTCACTCATCCCAGACAC < 41bp 1 0.200531257245635 1 0.051869809627533 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156106055 chr1:156106048 nonsynonymous SNV 0.996 5 14 hm5C_associated_SNPs_41427 4 Uncertain significance not specified RCV000041313.3
3875 chr1 156106048 156106048 1 + C T UCEC 156106055 + 156106035 156106075 41 GCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACAC GCGCAGCCGTGGCTGTGCTTCCTCTCACTCATCCCAGACAC < 41bp 1 0.200531257245635 1 0.051869809627533 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156106055 chr1:156106048 nonsynonymous SNV 0.996 5 14 hm5C_associated_SNPs_41427 4 Likely pathogenic not provided RCV000057258.4
3875 chr1 156106048 156106048 1 + C T UCEC 156106055 + 156106035 156106075 41 GCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACAC GCGCAGCCGTGGCTGTGCTTCCTCTCACTCATCCCAGACAC < 41bp 1 0.200531257245635 1 0.051869809627533 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156106055 chr1:156106048 nonsynonymous SNV 0.996 5 14 hm5C_associated_SNPs_41427 4 Uncertain significance Ventricular tachycardia, catecholaminergic polymorphic, 1 RCV000157295.1
3875 chr1 156106048 156106048 1 + C T UCEC 156106055 + 156106035 156106075 41 GCGCAGCCGTGGCCGTGCTTCCTCTCACTCATCCCAGACAC GCGCAGCCGTGGCTGTGCTTCCTCTCACTCATCCCAGACAC < 41bp 1 0.200531257245635 1 0.051869809627533 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74773;RNA-BisSeq;Huh7;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156106055 chr1:156106048 nonsynonymous SNV 0.996 5 14 hm5C_associated_SNPs_41427 4 Uncertain significance Emery-Dreifuss muscular dystrophy RCV000172002.2
3875 chr1 156105746 156105746 1 + C T UCEC 156105730 + 156105710 156105750 41 AAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGGA AAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGTGGGA < 41bp 1 0.25314447942684 1 0.20429790019989 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control LMNA ENSG00000160789 CDS Human protein_coding chr1:156105730 chr1:156105746 nonsynonymous SNV 0.998 5 37 hm5C_associated_SNPs_41490 1 Uncertain significance not specified RCV000236116.2
3875 chr7 30673468 30673468 1 + G A UCEC 30673480 + 30673460 30673500 41 AGACAATCGAGGAATGAGGACAATTTTGACAACTTTTGACC AGACAATCAAGGAATGAGGACAATTTTGACAACTTTTGACC < 41bp 1 0.145390015782179 1 0.0721597075462341 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GARS ENSG00000106105 CDS Human protein_coding chr7:30673480 chr7:30673468 nonsynonymous SNV 0.971 2 9 hm5C_associated_SNPs_42391 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000263932.1
3875 chr7 30673468 30673468 1 + G A UCEC 30673480 + 30673460 30673500 41 AGACAATCGAGGAATGAGGACAATTTTGACAACTTTTGACC AGACAATCAAGGAATGAGGACAATTTTGACAACTTTTGACC < 41bp 1 0.145390015782179 1 0.0721597075462341 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GARS ENSG00000106105 CDS Human protein_coding chr7:30673480 chr7:30673468 nonsynonymous SNV 0.971 2 9 hm5C_associated_SNPs_42391 3 Likely benign Distal spinal muscular atrophy RCV000321466.1
3875 chr7 30673468 30673468 1 + G A UCEC 30673480 + 30673460 30673500 41 AGACAATCGAGGAATGAGGACAATTTTGACAACTTTTGACC AGACAATCAAGGAATGAGGACAATTTTGACAACTTTTGACC < 41bp 1 0.145390015782179 1 0.0721597075462341 experiment 1 Functional Loss 28418038;GSE74773;RNA-BisSeq;Huh7;Control GARS ENSG00000106105 CDS Human protein_coding chr7:30673480 chr7:30673468 nonsynonymous SNV 0.971 2 9 hm5C_associated_SNPs_42391 3 Likely benign Peripheral axonal neuropathy RCV000378574.1
3875 chr19 50912090 50912090 1 + G A UCEC 50912092 + 50912072 50912112 41 CTTCTCCTCGCTGTACCCGTCCATCATGATGGCCCACAACC CTTCTCCTCGCTGTACCCATCCATCATGATGGCCCACAACC < 41bp 1 0.030931230013118 1 0.0879022181034088 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912092 chr19:50912090 synonymous SNV . 0 19 hm5C_associated_SNPs_42855 1 Likely benign not specified RCV000439280.1
3875 chr22 32881154 32881154 1 + A G UCEC 32881149 + 32881129 32881169 41 TCCTCTCTGCGAGGGCAGCTCCGCTACTCTCACCTGTGTGC TCCTCTCTGCGAGGGCAGCTCCGCTGCTCTCACCTGTGTGC < 41bp 1 0.547775651399593 1 0.13800510764122 experiment 0.904448697200814 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control FBXO7 ENSG00000100225 CDS Human protein_coding chr22:32881149 chr22:32881154 nonsynonymous SNV 0.148 0 26 hm5C_associated_SNPs_42892 1 Uncertain significance Parkinson Disease, Recessive RCV000307882.1
3875 chr5 149754338 149754338 1 + C T UCEC 149754323 + 149754303 149754343 41 GCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGA GCGGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGTGAGGA < 41bp 1 0.53105436138435 1 0.376139402389526 experiment 0.9378912772313 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754323 chr5:149754338 synonymous SNV . 0 36 hm5C_associated_SNPs_43366 1 Likely benign Treacher Collins syndrome 1 RCV000190968.1
3875 chr5 149754338 149754338 1 + C T UCEC 149754325 + 149754305 149754345 41 GGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGCGAGGAAT GGGGAAGCGGGAGGAGGACTCGCAGAGCAGCAGTGAGGAAT < 41bp 1 0.695635069028145 1 0.723336696624756 experiment 0.60872986194371 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754325 chr5:149754338 synonymous SNV . 0 34 hm5C_associated_SNPs_43367 1 Likely benign Treacher Collins syndrome 1 RCV000190968.1
3875 chr5 149754338 149754338 1 + C T UCEC 149754335 + 149754315 149754355 41 GAGGAGGACTCGCAGAGCAGCAGCGAGGAATCGGACAGTGA GAGGAGGACTCGCAGAGCAGCAGTGAGGAATCGGACAGTGA < 41bp 1 0.330600488278397 1 0.214113026857376 experiment 1 Functional Loss 30526041;GSE122413;RNA-BisSeq;HEK293;Control TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149754335 chr5:149754338 synonymous SNV . 0 24 hm5C_associated_SNPs_43368 1 Likely benign Treacher Collins syndrome 1 RCV000190968.1
3875 chr1 193205402 193205402 1 + G A UCEC 193205390 + 193205370 193205410 41 ACTTTTCTACTTGTAGGGACCGCGTTGTAGCCGTTTTTGTG ACTTTTCTACTTGTAGGGACCGCGTTGTAGCCATTTTTGTG < 41bp 1 0.677150237417394 1 0.144496351480484 experiment 0.645699525165212 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control|28418038;GSE74772;RNA-BisSeq;HCT116;Control|28418038;GSE74774;RNA-BisSeq;MRC-5;Control CDC73 ENSG00000134371 CDS Human protein_coding chr1:193205390 chr1:193205402 nonsynonymous SNV 0.967 3 33 hm5C_associated_SNPs_43427 1 Uncertain significance Parathyroid carcinoma RCV000228358.1
3875 chrX 70354254 70354254 1 + G A UCEC 70354269 + 70354249 70354289 41 ACCACGGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAG ACCACAGAGTGGGCCATGCTCCTCCTGGAGATCATCATCAG < 41bp 1 0.146424556339184 1 0.426467627286911 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control MED12 ENSG00000184634 CDS Human protein_coding chrX:70354269 chrX:70354254 synonymous SNV . 0 6 hm5C_associated_SNPs_43544 1 Likely benign not specified RCV000434851.1
3875 chr19 50753079 50753079 1 + C T UCEC 50753062 + 50753042 50753082 41 CTCGACCTGCAGCCCTGCATCGACCTCATCGAGCGGCCGGT CTCGACCTGCAGCCCTGCATCGACCTCATCGAGCGGCTGGT < 41bp 1 0.203581630011409 1 0.512857735157013 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MYH14 ENSG00000105357 CDS Human protein_coding chr19:50753062 chr19:50753079 nonsynonymous SNV 0.986 3 38 hm5C_associated_SNPs_43595 1 Uncertain significance not specified RCV000156811.1
3875 chr14 102445743 102445743 1 + G A UCEC 102445731 + 102445711 102445751 41 CAGCTCCGGGTCCTTACACTCAGTGAAGACTCGCCCTACGA CAGCTCCGGGTCCTTACACTCAGTGAAGACTCACCCTACGA < 41bp 1 0.21383364348766 1 0.796578407287598 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102445731 chr14:102445743 synonymous SNV . 0 33 hm5C_associated_SNPs_43696 4 Uncertain significance Spinocerebellar Ataxia, Dominant RCV000297581.1
3875 chr14 102445743 102445743 1 + G A UCEC 102445731 + 102445711 102445751 41 CAGCTCCGGGTCCTTACACTCAGTGAAGACTCGCCCTACGA CAGCTCCGGGTCCTTACACTCAGTGAAGACTCACCCTACGA < 41bp 1 0.21383364348766 1 0.796578407287598 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102445731 chr14:102445743 synonymous SNV . 0 33 hm5C_associated_SNPs_43696 4 Uncertain significance Charcot-Marie-Tooth, Type 2 RCV000336933.1
3875 chr14 102445743 102445743 1 + G A UCEC 102445731 + 102445711 102445751 41 CAGCTCCGGGTCCTTACACTCAGTGAAGACTCGCCCTACGA CAGCTCCGGGTCCTTACACTCAGTGAAGACTCACCCTACGA < 41bp 1 0.21383364348766 1 0.796578407287598 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102445731 chr14:102445743 synonymous SNV . 0 33 hm5C_associated_SNPs_43696 4 Uncertain significance Intellectual Disability, Dominant RCV000403107.1
3875 chr14 102445743 102445743 1 + G A UCEC 102445731 + 102445711 102445751 41 CAGCTCCGGGTCCTTACACTCAGTGAAGACTCGCCCTACGA CAGCTCCGGGTCCTTACACTCAGTGAAGACTCACCCTACGA < 41bp 1 0.21383364348766 1 0.796578407287598 experiment 1 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102445731 chr14:102445743 synonymous SNV . 0 33 hm5C_associated_SNPs_43696 4 Likely benign not specified RCV000425255.1
3875 chr19 50728934 50728934 1 + C T UCEC 50728929 + 50728909 50728949 41 TGAAGAATGACAACTCCTCCCGATTCGTGAGTGCCAGGGGT TGAAGAATGACAACTCCTCCCGATTTGTGAGTGCCAGGGGT < 41bp 1 0.109123117310498 1 0.204719394445419 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control MYH14 ENSG00000105357 CDS Human protein_coding chr19:50728929 chr19:50728934 synonymous SNV . 0 26 hm5C_associated_SNPs_43872 1 Likely benign not specified RCV000037056.2
3875 chr4 56230300 56230300 1 + C T UCEC 56230318 + 56230298 56230338 41 TACGAAGACTCTTCGAGTGCCTCTACGTCAGTGTCTTCTCC TATGAAGACTCTTCGAGTGCCTCTACGTCAGTGTCTTCTCC < 41bp 1 0.549657263970593 1 0.222426980733871 experiment 0.900685472058813 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control|31358969;GSE133672;RNA-BisSeq;T24;Control SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56230318 chr4:56230300 stopgain 0.005 1 3 hm5C_associated_SNPs_44046 1 Pathogenic Congenital disorder of glycosylation type 1Q RCV000000892.3
3875 chr19 11215934 11215934 1 + G A UCEC 11215952 + 11215932 11215972 41 ACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCA ACAATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCA < 41bp 1 0.788533354711832 1 0.882750034332275 experiment 0.422933290576335 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control LDLR ENSG00000130164 CDS Human protein_coding chr19:11215952 chr19:11215934 nonsynonymous SNV 0.555 1 3 hm5C_associated_SNPs_44734 1 Uncertain significance Familial hypercholesterolemia RCV000227070.1
3875 chr2 48027751 48027751 1 + G A UCEC 48027758 + 48027738 48027778 41 AGGGATCATGGAAGAAGTTGCTGATGGTTTTAAGTCTAAAA AGGGATCATGGAAAAAGTTGCTGATGGTTTTAAGTCTAAAA < 41bp 1 0.221454324477542 1 0.0498495995998383 experiment 1 Functional Loss 28418038;GSE74775;RNA-BisSeq;SNB19;Control MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027758 chr2:48027751 nonsynonymous SNV 0.690 1 14 hm5C_associated_SNPs_44791 1 Uncertain significance not specified RCV000160682.2
3875 chr17 73738713 73738713 1 + C T UCEC 73738719 + 73738699 73738739 41 AGCTGGTGGACGTACGGGTGCCCCTCTTTATCCGGCCTGAG AGCTGGTGGACGTATGGGTGCCCCTCTTTATCCGGCCTGAG < 41bp 1 0.118237007846684 1 0.0295092463493347 experiment 1 Functional Loss 28418038;GSE74772;RNA-BisSeq;HCT116;Control ITGB4 ENSG00000132470 CDS Human protein_coding chr17:73738719 chr17:73738713 nonsynonymous SNV 0.920 4 15 hm5C_associated_SNPs_44908 1 Uncertain significance Epidermolysis bullosa junctionalis with pyloric atresia RCV000330491.1
3875 chr11 61725716 61725716 1 + C T UCEC 61725725 + 61725705 61725745 41 GAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTT GAGCTGGACCTTGTTGTGCCCGTCTTCACGTTCCTGCAGTT < 41bp 1 0.194979537838536 1 0.140045523643494 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61725725 chr11:61725716 synonymous SNV . 0 12 hm5C_associated_SNPs_45151 3 Uncertain significance Vitelliform macular dystrophy type 2 RCV000282464.1
3875 chr11 61725716 61725716 1 + C T UCEC 61725725 + 61725705 61725745 41 GAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTT GAGCTGGACCTTGTTGTGCCCGTCTTCACGTTCCTGCAGTT < 41bp 1 0.194979537838536 1 0.140045523643494 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61725725 chr11:61725716 synonymous SNV . 0 12 hm5C_associated_SNPs_45151 3 Uncertain significance Retinitis Pigmentosa, Recessive RCV000337607.1
3875 chr11 61725716 61725716 1 + C T UCEC 61725725 + 61725705 61725745 41 GAGCTGGACCTCGTTGTGCCCGTCTTCACGTTCCTGCAGTT GAGCTGGACCTTGTTGTGCCCGTCTTCACGTTCCTGCAGTT < 41bp 1 0.194979537838536 1 0.140045523643494 experiment 1 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61725725 chr11:61725716 synonymous SNV . 0 12 hm5C_associated_SNPs_45151 3 Uncertain significance Vitreoretinochoroidopathy RCV000399998.1
3875 chr3 58112452 58112452 1 + C T UCEC 58112439 + 58112419 58112459 41 TGCTGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTA TGCTGAGTACATTCCTTTCGCACCGGGGGATTATGATGTTA < 41bp 1 0.451523379936074 1 0.157622963190079 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112439 chr3:58112452 synonymous SNV . 0 34 hm5C_associated_SNPs_45744 1 Uncertain significance FLNB-Related Spectrum Disorders RCV000370208.1
3875 chr3 58112452 58112452 1 + C T UCEC 58112441 + 58112421 58112461 41 CTGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTAAT CTGAGTACATTCCTTTCGCACCGGGGGATTATGATGTTAAT < 41bp 1 0.212244887369182 1 0.323051989078522 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112441 chr3:58112452 synonymous SNV . 0 32 hm5C_associated_SNPs_45745 1 Uncertain significance FLNB-Related Spectrum Disorders RCV000370208.1
3875 chr3 58112452 58112452 1 + C T UCEC 58112442 + 58112422 58112462 41 TGAGTACATTCCTTTCGCACCGGGGGATTACGATGTTAATA TGAGTACATTCCTTTCGCACCGGGGGATTATGATGTTAATA < 41bp 1 0.392310027345162 1 0.903830349445343 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control FLNB ENSG00000136068 CDS Human protein_coding chr3:58112442 chr3:58112452 synonymous SNV . 0 31 hm5C_associated_SNPs_45746 1 Uncertain significance FLNB-Related Spectrum Disorders RCV000370208.1
3875 chr11 61719351 61719351 1 + C T UCEC 61719365 + 61719345 61719385 41 TGCTGGCGGGGCAGCATCTACAAGCTGCTATATGGCGAGTT TGCTGGTGGGGCAGCATCTACAAGCTGCTATATGGCGAGTT < 41bp 1 0.528103827787781 1 0.511276662349701 experiment 0.943792344424438 Functional Loss 28418038;GSE93751;RNA-BisSeq;HeLa;NSUN2 deficient|28418038;GSE93752;RNA-BisSeq;HeLa;Control BEST1 ENSG00000167995 CDS Human protein_coding chr11:61719365 chr11:61719351 nonsynonymous SNV 0.992 4 7 hm5C_associated_SNPs_45946 1 not provided not provided RCV000086169.1
3875 chr19 10897280 10897280 1 + G A UCEC 10897279 + 10897259 10897299 41 GGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAG GGGAGTCGCTGCCGGCCCTACATAGCAAACTACAGAGCCAG < 41bp 1 0.165719331063334 1 0.121634185314178 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10897279 chr19:10897280 nonsynonymous SNV 0.556 4 22 hm5C_associated_SNPs_45986 2 Uncertain significance Charcot-Marie-Tooth, Intermediate RCV000334632.1
3875 chr19 10897280 10897280 1 + G A UCEC 10897279 + 10897259 10897299 41 GGGAGTCGCTGCCGGCCCTACGTAGCAAACTACAGAGCCAG GGGAGTCGCTGCCGGCCCTACATAGCAAACTACAGAGCCAG < 41bp 1 0.165719331063334 1 0.121634185314178 experiment 1 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control DNM2 ENSG00000079805 CDS Human protein_coding chr19:10897279 chr19:10897280 nonsynonymous SNV 0.556 4 22 hm5C_associated_SNPs_45986 2 Uncertain significance Centronuclear Myopathy, Dominant RCV000406403.1
3875 chrX 107838787 107838787 1 + G A UCEC 107838784 + 107838764 107838804 41 CTGCATTGGAACTGGTATTTCAGGGCCTCCAGGTCAACCTG CTGCATTGGAACTGGTATTTCAGAGCCTCCAGGTCAACCTG < 41bp 1 0.641146317333832 1 0.550340473651886 experiment 0.717707365332335 Functional Loss 28418038;GSE93752;RNA-BisSeq;HeLa;Control|31358969;GSE133672;RNA-BisSeq;T24;Control|31061524;GSE122261;BS-seq with improved protocol;Hela;Control|28418038;GSE74771;RNA-BisSeq;293T;Control COL4A5 ENSG00000188153 CDS Human protein_coding chrX:107838784 chrX:107838787 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_46323 1 Pathogenic Alport syndrome, X-linked recessive RCV000021294.1
3875 chr15 64448304 64448304 1 + C T UCEC 64448294 - 64448274 64448314 41 ACAGACAGCCGGGATAAACCCCTGAAGGATGTGATCATCGC ACAGACAGCCAGGATAAACCCCTGAAGGATGTGATCATCGC < 41bp 1 0.614856342841668 1 0.222313791513443 experiment 0.770287314316663 Functional Loss 30526041;GSE122414;RNA-BisSeq;HEK293;NSUN2 Knockout PPIB ENSG00000166794 CDS Human protein_coding chr15:64448294 chr15:64448304 nonsynonymous SNV 0.991 2 11 hm5C_associated_SNPs_46339 1 Uncertain significance not specified RCV000202830.1
3875 chr2 219526239 219526239 1 + G A UCEC 219526252 + 219526232 219526272 41 ACTGACCGAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGT ACTGACCAAAAGGTTTTCTTCAACATCCTGGAGGAAGGTGT < 41bp 1 0.760809809772778 1 0.253392457962036 experiment 0.478380380454444 Functional Loss 28418038;GSE74771;RNA-BisSeq;293T;Control BCS1L ENSG00000074582 CDS Human protein_coding chr2:219526252 chr2:219526239 nonsynonymous SNV 1.000 3 8 hm5C_associated_SNPs_46340 1 Likely pathogenic GRACILE syndrome RCV000049826.1
3875 chr14 73637521 73637521 1 + G A UCS 73637529 + 73637509 73637549 41 ACAATAGAGAACGGCAGGAGCACAACGACAGACGGAGCCTT ACAATAGAGAACAGCAGGAGCACAACGACAGACGGAGCCTT < 41bp 1 0.580812006202589 1 0.280585050582886 experiment 0.838375987594822 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PSEN1 ENSG00000080815 CDS Human protein_coding chr14:73637529 chr14:73637521 nonsynonymous SNV 0.410 1 13 hm5C_associated_SNPs_46525 2 not provided not provided RCV000084280.1
3875 chr14 73637521 73637521 1 + G A UCS 73637529 + 73637509 73637549 41 ACAATAGAGAACGGCAGGAGCACAACGACAGACGGAGCCTT ACAATAGAGAACAGCAGGAGCACAACGACAGACGGAGCCTT < 41bp 1 0.580812006202589 1 0.280585050582886 experiment 0.838375987594822 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PSEN1 ENSG00000080815 CDS Human protein_coding chr14:73637529 chr14:73637521 nonsynonymous SNV 0.410 1 13 hm5C_associated_SNPs_46525 2 Uncertain significance Alzheimer's disease RCV000172094.1
3875 chr14 73637521 73637521 1 + G A UCS 73637531 + 73637511 73637551 41 AATAGAGAACGGCAGGAGCACAACGACAGACGGAGCCTTGG AATAGAGAACAGCAGGAGCACAACGACAGACGGAGCCTTGG < 41bp 1 0.604864981513837 1 0.266449153423309 experiment 0.790270036972326 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PSEN1 ENSG00000080815 CDS Human protein_coding chr14:73637531 chr14:73637521 nonsynonymous SNV 0.410 1 11 hm5C_associated_SNPs_46526 2 not provided not provided RCV000084280.1
3875 chr14 73637521 73637521 1 + G A UCS 73637531 + 73637511 73637551 41 AATAGAGAACGGCAGGAGCACAACGACAGACGGAGCCTTGG AATAGAGAACAGCAGGAGCACAACGACAGACGGAGCCTTGG < 41bp 1 0.604864981513837 1 0.266449153423309 experiment 0.790270036972326 Functional Loss 22344696;NO;bisulfite sequencing;HeLa;Control PSEN1 ENSG00000080815 CDS Human protein_coding chr14:73637531 chr14:73637521 nonsynonymous SNV 0.410 1 11 hm5C_associated_SNPs_46526 2 Uncertain significance Alzheimer's disease RCV000172094.1
3875 chr11 34937813 34937813 1 + G A rs2956114 34937813 - 34937793 34937833 41 CCATGTCTGGCTGTGATGCTCGGGAGGGAGACTGTTGTTCC CCATGTCTGGCTGTGATGCTTGGGAGGGAGACTGTTGTTCC Direct Loss 0.989941656927402 0 0.931221 0.84175146 prediction 0.979883313854804 Functional Loss - APIP ENSG00000149089 CDS Human protein_coding chr11:34937813 chr11:34937813 nonsynonymous SNV 0.001 1 21 hm5C_associated_SNPs_46805 1 Benign Pyruvate dehydrogenase complex deficiency RCV000393521.1
3875 chr15 43690268 43690268 1 + C T COAD 43690268 + 43690248 43690288 41 AGGCAAGAGAAGGGCCTTCTCGGGAAACTTCTCCCCGGGAA AGGCAAGAGAAGGGCCTTCTTGGGAAACTTCTCCCCGGGAA Direct Loss 0.984404958982379 0 0.90878 0.86634195 prediction 0.968809917964759 Functional Loss - TUBGCP4 ENSG00000137822 CDS Human protein_coding chr15:43690268 chr15:43690268 nonsynonymous SNV 0.994 2 21 hm5C_associated_SNPs_46888 1 Uncertain significance not specified RCV000479037.1
3875 chr20 45353912 45353912 1 + C T COAD 45353912 + 45353892 45353932 41 GGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCT GGCAGGAAGCAAGCCATCCTTGGGAGCAACTTGGTGCTGCT Direct Loss 0.984231171774653 0 0.93585396 0.8928254 prediction 0.968462343549305 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45353912 chr20:45353912 synonymous SNV . 0 21 hm5C_associated_SNPs_46895 2 Benign not specified RCV000128119.3
3875 chr20 45353912 45353912 1 + C T COAD 45353912 + 45353892 45353932 41 GGCAGGAAGCAAGCCATCCTCGGGAGCAACTTGGTGCTGCT GGCAGGAAGCAAGCCATCCTTGGGAGCAACTTGGTGCTGCT Direct Loss 0.984231171774653 0 0.93585396 0.8928254 prediction 0.968462343549305 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45353912 chr20:45353912 synonymous SNV . 0 21 hm5C_associated_SNPs_46895 2 Uncertain significance Arterial tortuosity syndrome RCV000357718.1
3875 chr2 45169423 45169423 1 + C T STAD 45169423 + 45169403 45169443 41 GCGGGAGGCGGCGGTGCTGGCGGAGCAGGCGGCGGCGGCGG GCGGGAGGCGGCGGTGCTGGTGGAGCAGGCGGCGGCGGCGG Direct Loss 0.983565654249088 0 0.92121685 0.87321126 prediction 0.967131308498176 Functional Loss - SIX3 ENSG00000138083 CDS Human protein_coding chr2:45169423 chr2:45169423 synonymous SNV . 0 21 hm5C_associated_SNPs_46911 1 Uncertain significance not specified RCV000274505.1
3875 chr20 3870266 3870266 1 + C G rs71647829 3870266 + 3870246 3870286 41 GCGAGCAGCGCGTCGGTGCCCGCGGTCGGGGCCTCGGCTGA GCGAGCAGCGCGTCGGTGCCGGCGGTCGGGGCCTCGGCTGA Direct Loss 0.982346864710986 0 0.910763 0.93083286 prediction 0.964693729421972 Functional Loss - PANK2 ENSG00000125779 CDS Human protein_coding chr20:3870266 chr20:3870266 synonymous SNV . 0 21 hm5C_associated_SNPs_46944 1 Likely benign Pigmentary pallidal degeneration RCV000335556.1
3875 chr9 12694255 12694255 1 + C A rs34509359 12694255 + 12694235 12694275 41 CCCATGATGGCAGAGATGATCGGGAGGTCTGGCCCTTGCGC CCCATGATGGCAGAGATGATAGGGAGGTCTGGCCCTTGCGC Direct Loss 0.981514239205673 0 0.9549323 0.92367345 prediction 0.963028478411345 Functional Loss - TYRP1 ENSG00000107165 CDS Human protein_coding chr9:12694255 chr9:12694255 synonymous SNV . 0 21 hm5C_associated_SNPs_46964 2 Benign not specified RCV000241851.1
3875 chr9 12694255 12694255 1 + C A rs34509359 12694255 + 12694235 12694275 41 CCCATGATGGCAGAGATGATCGGGAGGTCTGGCCCTTGCGC CCCATGATGGCAGAGATGATAGGGAGGTCTGGCCCTTGCGC Direct Loss 0.981514239205673 0 0.9549323 0.92367345 prediction 0.963028478411345 Functional Loss - TYRP1 ENSG00000107165 CDS Human protein_coding chr9:12694255 chr9:12694255 synonymous SNV . 0 21 hm5C_associated_SNPs_46964 2 Likely benign Oculocutaneous albinism RCV000339735.1
3875 chr16 29825686 29825686 1 + C T CESC 29825686 + 29825666 29825706 41 CTGCAGCAGGGGGACGTGGACGGGGCCCAGCGTCTGGGCCG CTGCAGCAGGGGGACGTGGATGGGGCCCAGCGTCTGGGCCG Direct Loss 0.979578574175664 0 0.9137206 0.9001385 prediction 0.959157148351329 Functional Loss - PRRT2 ENSG00000167371 CDS Human protein_coding chr16:29825686 chr16:29825686 synonymous SNV . 0 21 hm5C_associated_SNPs_47025 1 Likely benign not specified RCV000433887.1
3875 chr12 65564324 65564324 1 + C T rs183253527 65564324 + 65564304 65564344 41 GTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGGCGGC GTTCAGGGAGGGGGAGGACTTGCGATGAATGACAGGGCGGC Direct Loss 0.979205880967971 0 0.8868239 0.87435603 prediction 0.958411761935942 Functional Loss - LEMD3 ENSG00000174106 CDS Human protein_coding chr12:65564324 chr12:65564324 synonymous SNV . 0 21 hm5C_associated_SNPs_47043 1 Likely benign Dermatofibrosis lenticularis disseminata RCV000291631.1
3875 chr15 33023098 33023098 1 + C G rs2280738 33023098 + 33023078 33023118 41 GGGCGGGGCACTGCCATGCCCGGGGAGGAGGTGCTGGAGTC GGGCGGGGCACTGCCATGCCGGGGGAGGAGGTGCTGGAGTC Direct Loss 0.978715291560165 0 0.90000707 0.90541327 prediction 0.957430583120329 Functional Loss - GREM1 ENSG00000166923 CDS Human protein_coding chr15:33023098 chr15:33023098 synonymous SNV . 0 21 hm5C_associated_SNPs_47063 1 Benign not specified RCV000454615.1
3875 chr7 107303845 107303845 1 + C T BLCA 107303845 + 107303825 107303865 41 GCTGCTTAGTGACGTCATTTCGGGAGTTAGTACTGGGCTAG GCTGCTTAGTGACGTCATTTTGGGAGTTAGTACTGGGCTAG Direct Loss 0.978501453748082 0 0.9200477 0.8544563 prediction 0.957002907496163 Functional Loss - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107303845 chr7:107303845 nonsynonymous SNV 0.686 5 21 hm5C_associated_SNPs_47072 1 Likely pathogenic Pendred's syndrome RCV000169192.1
3875 chr2 26467653 26467653 1 + C T rs72809668 26467653 + 26467633 26467673 41 GGCCGAAAGGTCGTATTCTCCGGGGGAGGACGGGGGCCCGG GGCCGAAAGGTCGTATTCTCTGGGGGAGGACGGGGGCCCGG Direct Loss 0.976388704378061 0 0.92465925 0.90560746 prediction 0.952777408756122 Functional Loss - HADHB ENSG00000138029 intronic Human protein_coding chr2:26467653 chr2:26467653 . . 0 21 hm5C_associated_SNPs_47163 2 Likely benign Mitochondrial trifunctional protein deficiency RCV000280419.1
3875 chr2 26467653 26467653 1 + C T rs72809668 26467653 + 26467633 26467673 41 GGCCGAAAGGTCGTATTCTCCGGGGGAGGACGGGGGCCCGG GGCCGAAAGGTCGTATTCTCTGGGGGAGGACGGGGGCCCGG Direct Loss 0.976388704378061 0 0.92465925 0.90560746 prediction 0.952777408756122 Functional Loss - HADHB ENSG00000138029 intronic Human protein_coding chr2:26467653 chr2:26467653 . . 0 21 hm5C_associated_SNPs_47163 2 Likely benign LCHAD Deficiency RCV000284120.1
3875 chr16 4382351 4382351 1 + C A rs34543395 4382351 + 4382331 4382371 41 TCCGGGCGGCAAGAGAGAAGCGGGAGAGGACGCTGGGTGTG TCCGGGCGGCAAGAGAGAAGAGGGAGAGGACGCTGGGTGTG Direct Loss 0.976171988014598 0 0.89743274 0.8310205 prediction 0.952343976029197 Functional Loss - GLIS2 ENSG00000126603 CDS Human protein_coding chr16:4382351 chr16:4382351 synonymous SNV . 0 21 hm5C_associated_SNPs_47174 2 Benign Nephronophthisis RCV000197752.2
3875 chr16 4382351 4382351 1 + C A rs34543395 4382351 + 4382331 4382371 41 TCCGGGCGGCAAGAGAGAAGCGGGAGAGGACGCTGGGTGTG TCCGGGCGGCAAGAGAGAAGAGGGAGAGGACGCTGGGTGTG Direct Loss 0.976171988014598 0 0.89743274 0.8310205 prediction 0.952343976029197 Functional Loss - GLIS2 ENSG00000126603 CDS Human protein_coding chr16:4382351 chr16:4382351 synonymous SNV . 0 21 hm5C_associated_SNPs_47174 2 Benign not specified RCV000241918.1
3875 chr17 59560453 59560453 1 + C G rs140662248 59560453 + 59560433 59560473 41 GCCCGAGATTGCCGGGGTGTCTGGGGTGGACGACCTGCCCC GCCCGAGATTGCCGGGGTGTGTGGGGTGGACGACCTGCCCC Direct Loss 0.9719649943585 0 0.9326982 0.92623806 prediction 0.943929988716999 Functional Loss - TBX4 ENSG00000121075 CDS Human protein_coding chr17:59560453 chr17:59560453 nonsynonymous SNV 0.909 2 21 hm5C_associated_SNPs_47442 1 Likely benign Ischiopatellar dysplasia RCV000289412.1
3875 chr11 67258381 67258381 1 + C T UCEC 67258381 + 67258361 67258401 41 CCCTGGCGCCTGTGGTGAGCCGAGAGCTGCAGGCCCTGGAG CCCTGGCGCCTGTGGTGAGCTGAGAGCTGCAGGCCCTGGAG Direct Loss 0.969467827965014 0 0.85270226 0.71693015 prediction 0.938935655930028 Functional Loss - AIP ENSG00000110711 CDS Human protein_coding chr11:67258381 chr11:67258381 stopgain 0.972 0 21 hm5C_associated_SNPs_47618 1 Pathogenic Somatotroph adenoma RCV000005166.3
3875 chr8 18079746 18079746 1 + C T rs56379106 18079746 + 18079726 18079766 41 ATCAAGTTGTGAGAAGAAATCGGGGTGGATGGTGTCTCCAG ATCAAGTTGTGAGAAGAAATTGGGGTGGATGGTGTCTCCAG Direct Loss 0.968005932538882 0 0.94527566 0.9175446 prediction 0.936011865077765 Functional Loss - NAT1 ENSG00000171428 CDS Human protein_coding chr8:18079746 chr8:18079746 nonsynonymous SNV 0.046 4 21 hm5C_associated_SNPs_47725 1 Benign not specified RCV000239134.1
3875 chr17 68171276 68171276 1 + C T rs67120636 68171276 + 68171256 68171296 41 GTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACAC GTTGCAAATGGCTTTGGGAATGGGAAGAGTAAAGTCCACAC Direct Loss 0.967580686574182 0 0.8034754 0.73715544 prediction 0.935161373148365 Functional Loss - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171276 chr17:68171276 synonymous SNV . 0 21 hm5C_associated_SNPs_47761 2 Benign Andersen Tawil syndrome RCV000459558.1
3875 chr17 68171276 68171276 1 + C T rs67120636 68171276 + 68171256 68171296 41 GTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACAC GTTGCAAATGGCTTTGGGAATGGGAAGAGTAAAGTCCACAC Direct Loss 0.967580686574182 0 0.8034754 0.73715544 prediction 0.935161373148365 Functional Loss - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171276 chr17:68171276 synonymous SNV . 0 21 hm5C_associated_SNPs_47761 2 Benign Short QT syndrome 3 RCV000459558.1
3875 chr12 108956450 108956450 1 + C A rs142514490 108956450 + 108956430 108956470 41 GGGCGGCATCGGCTCTGCTGCTGCGGAGCCCCCGCCTGCCC GGGCGGCATCGGCTCTGCTGATGCGGAGCCCCCGCCTGCCC Direct Loss 0.966210075395606 0 0.8571076 0.8373334 prediction 0.932420150791212 Functional Loss - ISCU ENSG00000136003 CDS Human protein_coding chr12:108956450 chr12:108956450 nonsynonymous SNV 0.844 1 21 hm5C_associated_SNPs_47875 1 Benign not specified RCV000422277.1
3875 chr19 50910642 50910642 1 + C T UCEC 50910642 + 50910622 50910662 41 AGAGGGCGGCGAGGACTACACGGGAGCCACTGTCATCGAGC AGAGGGCGGCGAGGACTACATGGGAGCCACTGTCATCGAGC Direct Loss 0.965743586095847 0 0.87045753 0.65703344 prediction 0.931487172191695 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910642 chr19:50910642 nonsynonymous SNV 0.995 2 21 hm5C_associated_SNPs_47916 1 Uncertain significance Colorectal cancer 10 RCV000462303.1
3875 chr1 236908011 236908011 1 + C T COAD 236908011 + 236907991 236908031 41 CTGCGGAAGCACGAGGCGTTCGAGAGCGACCTGGCAGCGCA CTGCGGAAGCACGAGGCGTTTGAGAGCGACCTGGCAGCGCA Direct Loss 0.965587805204145 0 0.8985809 0.8892045 prediction 0.93117561040829 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236908011 chr1:236908011 synonymous SNV . 0 21 hm5C_associated_SNPs_47930 4 Benign not specified RCV000036871.3
3875 chr1 236908011 236908011 1 + C T COAD 236908011 + 236907991 236908031 41 CTGCGGAAGCACGAGGCGTTCGAGAGCGACCTGGCAGCGCA CTGCGGAAGCACGAGGCGTTTGAGAGCGACCTGGCAGCGCA Direct Loss 0.965587805204145 0 0.8985809 0.8892045 prediction 0.93117561040829 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236908011 chr1:236908011 synonymous SNV . 0 21 hm5C_associated_SNPs_47930 4 Likely benign Cardiovascular phenotype RCV000241552.1
3875 chr1 236908011 236908011 1 + C T COAD 236908011 + 236907991 236908031 41 CTGCGGAAGCACGAGGCGTTCGAGAGCGACCTGGCAGCGCA CTGCGGAAGCACGAGGCGTTTGAGAGCGACCTGGCAGCGCA Direct Loss 0.965587805204145 0 0.8985809 0.8892045 prediction 0.93117561040829 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236908011 chr1:236908011 synonymous SNV . 0 21 hm5C_associated_SNPs_47930 4 Benign Dilated cardiomyopathy 1AA RCV000456350.1
3875 chr1 236908011 236908011 1 + C T COAD 236908011 + 236907991 236908031 41 CTGCGGAAGCACGAGGCGTTCGAGAGCGACCTGGCAGCGCA CTGCGGAAGCACGAGGCGTTTGAGAGCGACCTGGCAGCGCA Direct Loss 0.965587805204145 0 0.8985809 0.8892045 prediction 0.93117561040829 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236908011 chr1:236908011 synonymous SNV . 0 21 hm5C_associated_SNPs_47930 4 Benign Primary familial hypertrophic cardiomyopathy RCV000456350.1
3875 chr12 98909870 98909870 1 + G A rs59027673 98909870 - 98909850 98909890 41 GCGGCCCCAGAGCCGAGGACCGGGGTGGGCTCGCGCTCTTC GCGGCCCCAGAGCCGAGGACTGGGGTGGGCTCGCGCTCTTC Direct Loss 0.965462399393607 0 0.9417124 0.92550737 prediction 0.930924798787214 Functional Loss - TMPO ENSG00000120802 CDS Human protein_coding chr12:98909870 chr12:98909870 synonymous SNV . 0 21 hm5C_associated_SNPs_47939 2 Benign not specified RCV000155817.1
3875 chr12 98909870 98909870 1 + G A rs59027673 98909870 - 98909850 98909890 41 GCGGCCCCAGAGCCGAGGACCGGGGTGGGCTCGCGCTCTTC GCGGCCCCAGAGCCGAGGACTGGGGTGGGCTCGCGCTCTTC Direct Loss 0.965462399393607 0 0.9417124 0.92550737 prediction 0.930924798787214 Functional Loss - TMPO ENSG00000120802 CDS Human protein_coding chr12:98909870 chr12:98909870 synonymous SNV . 0 21 hm5C_associated_SNPs_47939 2 Benign Loeys-Dietz syndrome 2 RCV000470699.1
3875 chr20 44642908 44642908 1 + C T rs202160464 44642908 + 44642888 44642928 41 CTGTTCAGCGGGCGGCGCCTCTGGAGGTGAGCGCCGCCGCG CTGTTCAGCGGGCGGCGCCTTTGGAGGTGAGCGCCGCCGCG Direct Loss 0.964825279474904 0 0.773298 0.8448832 prediction 0.929650558949807 Functional Loss - MMP9 ENSG00000100985 CDS Human protein_coding chr20:44642908 chr20:44642908 synonymous SNV . 0 21 hm5C_associated_SNPs_47997 1 Uncertain significance not specified RCV000299784.1
3875 chr15 63335907 63335907 1 + C G rs201720832 63335907 + 63335887 63335927 41 GCCCGCCGCTGCCCCCAGCTCGAGGAGGACATCGCGGCCAA GCCCGCCGCTGCCCCCAGCTGGAGGAGGACATCGCGGCCAA Direct Loss 0.96478626476062 0 0.9311687 0.912313 prediction 0.92957252952124 Functional Loss - TPM1 ENSG00000140416 CDS Human protein_coding chr15:63335907 chr15:63335907 synonymous SNV . 0 21 hm5C_associated_SNPs_47999 1 Benign not specified RCV000036634.2
3875 chr9 133346226 133346226 1 + C T rs10901072 133346226 + 133346206 133346246 41 GTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTCAC GTCTCTTTCCTGCAGCAACATGGGATTCCCATCCCGGTCAC Direct Loss 0.963816161378662 0 0.88999665 0.4636229 prediction 0.927632322757325 Functional Loss - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133346226 chr9:133346226 synonymous SNV . 0 21 hm5C_associated_SNPs_48085 2 other not specified RCV000078021.9
3875 chr9 133346226 133346226 1 + C T rs10901072 133346226 + 133346206 133346246 41 GTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTCAC GTCTCTTTCCTGCAGCAACATGGGATTCCCATCCCGGTCAC Direct Loss 0.963816161378662 0 0.88999665 0.4636229 prediction 0.927632322757325 Functional Loss - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133346226 chr9:133346226 synonymous SNV . 0 21 hm5C_associated_SNPs_48085 2 Likely benign Citrullinemia type I RCV000276414.1
3875 chr9 100174394 100174394 1 + C G rs10982012 100174394 + 100174374 100174414 41 GCTTGAGGTGATTCCCAAGCCGCGGGGCGGCTCCGGTGGTG GCTTGAGGTGATTCCCAAGCGGCGGGGCGGCTCCGGTGGTG Direct Loss 0.963683117855502 0 0.8726951 0.8773593 prediction 0.927366235711004 Functional Loss - TDRD7 ENSG00000196116 UTR5 Human protein_coding chr9:100174394 chr9:100174394 . . 0 21 hm5C_associated_SNPs_48094 1 Likely benign Congenital cataract RCV000326023.1
3875 chr20 45354005 45354005 1 + C T BLCA 45354005 + 45353985 45354025 41 GGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCAT GGCCGCGCTGTGGTTGGCTTTGCCATTTCCCTCTCCTCCAT Direct Loss 0.961527323056089 0 0.30954993 0.1073876 prediction 0.923054646112178 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45354005 chr20:45354005 synonymous SNV . 0 21 hm5C_associated_SNPs_48304 2 Uncertain significance Arterial tortuosity syndrome RCV000260059.1
3875 chr20 45354005 45354005 1 + C T BLCA 45354005 + 45353985 45354025 41 GGCCGCGCTGTGGTTGGCTTCGCCATTTCCCTCTCCTCCAT GGCCGCGCTGTGGTTGGCTTTGCCATTTCCCTCTCCTCCAT Direct Loss 0.961527323056089 0 0.30954993 0.1073876 prediction 0.923054646112178 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45354005 chr20:45354005 synonymous SNV . 0 21 hm5C_associated_SNPs_48304 2 Likely benign not specified RCV000422082.1
3875 chr10 104392069 104392069 1 + C T rs181690906 104392069 + 104392049 104392089 41 TCTGGGGGAGCAGGGTAAGGCAGGAGGAAGTGGGTGAGCTC TCTGGGGGAGCAGGGTAAGGTAGGAGGAAGTGGGTGAGCTC Direct Loss 0.960240211220427 0 0.90075177 0.90058887 prediction 0.920480422440854 Functional Loss - SUFU ENSG00000107882 UTR3 Human protein_coding chr10:104392069 chr10:104392069 . . 0 21 hm5C_associated_SNPs_48447 1 Uncertain significance Medulloblastoma RCV000341841.1
3875 chr4 186064443 186064443 1 + C A rs183128370 186064443 + 186064423 186064463 41 CCCCTAGCGTCGCGCAGGGTCGGGGACTGCGCGGCGGTGCC CCCCTAGCGTCGCGCAGGGTAGGGGACTGCGCGGCGGTGCC Direct Loss 0.959909740382968 0 0.91533744 0.90057623 prediction 0.919819480765935 Functional Loss - SLC25A4 ENSG00000151729 UTR5 Human protein_coding chr4:186064443 chr4:186064443 . . 0 21 hm5C_associated_SNPs_48484 1 Benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000327206.1
3875 chr14 21152553 21152553 1 + C G rs113950902 21152553 + 21152533 21152573 41 GGGTCCAGCTGAGGAAGGAGCGCGGATCCCAGGCTCGTTCT GGGTCCAGCTGAGGAAGGAGGGCGGATCCCAGGCTCGTTCT Direct Loss 0.959735053910361 0 0.8957015 0.90056217 prediction 0.919470107820722 Functional Loss - ANG;RNASE4 ENSG00000214274;ENSG00000258818 UTR5 Human other chr14:21152553 chr14:21152553 . . 0 21 hm5C_associated_SNPs_48499 1 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000399742.1
3875 chr4 109088791 109088791 1 + C T LUAD 109088791 + 109088771 109088811 41 AGCTAAATCGCCTTCCTCTTCGGGATGACTGATCTCGGCGA AGCTAAATCGCCTTCCTCTTTGGGATGACTGATCTCGGCGA Direct Loss 0.959687355652721 0 0.8834496 0.61322683 prediction 0.919374711305443 Functional Loss - LEF1 ENSG00000138795 CDS Human protein_coding chr4:109088791 chr4:109088791 nonsynonymous SNV 0.998 5 21 hm5C_associated_SNPs_48504 1 Pathogenic Sebaceous tumors, somatic RCV000015459.4
3875 chr22 50962640 50962640 1 + G A GBM 50962640 - 50962620 50962660 41 CTGCTGATCACAGGCCTGTTCGGGGCTGGACTCGGTGGGGC CTGCTGATCACAGGCCTGTTTGGGGCTGGACTCGGTGGGGC Direct Loss 0.959497687106758 0 0.93562067 0.8839673 prediction 0.918995374213516 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962640 chr22:50962640 synonymous SNV . 0 21 hm5C_associated_SNPs_48529 4 Benign not specified RCV000128013.1
3875 chr22 50962640 50962640 1 + G A GBM 50962640 - 50962620 50962660 41 CTGCTGATCACAGGCCTGTTCGGGGCTGGACTCGGTGGGGC CTGCTGATCACAGGCCTGTTTGGGGCTGGACTCGGTGGGGC Direct Loss 0.959497687106758 0 0.93562067 0.8839673 prediction 0.918995374213516 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962640 chr22:50962640 synonymous SNV . 0 21 hm5C_associated_SNPs_48529 4 Uncertain significance Cytochrome-c oxidase deficiency RCV000264422.1
3875 chr22 50962640 50962640 1 + G A GBM 50962640 - 50962620 50962660 41 CTGCTGATCACAGGCCTGTTCGGGGCTGGACTCGGTGGGGC CTGCTGATCACAGGCCTGTTTGGGGCTGGACTCGGTGGGGC Direct Loss 0.959497687106758 0 0.93562067 0.8839673 prediction 0.918995374213516 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962640 chr22:50962640 synonymous SNV . 0 21 hm5C_associated_SNPs_48529 4 Uncertain significance Fatal Infantile Cardioencephalomyopathy RCV000324221.1
3875 chr22 50962640 50962640 1 + G A GBM 50962640 - 50962620 50962660 41 CTGCTGATCACAGGCCTGTTCGGGGCTGGACTCGGTGGGGC CTGCTGATCACAGGCCTGTTTGGGGCTGGACTCGGTGGGGC Direct Loss 0.959497687106758 0 0.93562067 0.8839673 prediction 0.918995374213516 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962640 chr22:50962640 synonymous SNV . 0 21 hm5C_associated_SNPs_48529 4 Uncertain significance not provided RCV000416073.1
3875 chr11 74204591 74204591 1 + G A rs60455691 74204591 - 74204571 74204611 41 GCTCCTGCTCTGCGAGCCCGCGGGGCCCGTGTATACGGCCG GCTCCTGCTCTGCGAGCCCGTGGGGCCCGTGTATACGGCCG Direct Loss 0.958119491585572 0 0.9096806 0.8771974 prediction 0.916238983171143 Functional Loss - LIPT2 ENSG00000175536 CDS Human protein_coding chr11:74204591 chr11:74204591 nonsynonymous SNV 0.988 1 21 hm5C_associated_SNPs_48694 1 Benign not specified RCV000435612.1
3875 chr4 187209614 187209614 1 + C T BLCA 187209614 + 187209594 187209634 41 CCCCTCGTTCTAGGGAGATTCGGGAGGCCCTCTGTCCTGCA CCCCTCGTTCTAGGGAGATTTGGGAGGCCCTCTGTCCTGCA Direct Loss 0.95742615680314 0 0.9196402 0.9010215 prediction 0.91485231360628 Functional Loss - F11 ENSG00000088926 CDS Human protein_coding chr4:187209614 chr4:187209614 nonsynonymous SNV 0.229 5 21 hm5C_associated_SNPs_48778 2 not provided not provided RCV000059019.1
3875 chr4 187209614 187209614 1 + C T BLCA 187209614 + 187209594 187209634 41 CCCCTCGTTCTAGGGAGATTCGGGAGGCCCTCTGTCCTGCA CCCCTCGTTCTAGGGAGATTTGGGAGGCCCTCTGTCCTGCA Direct Loss 0.95742615680314 0 0.9196402 0.9010215 prediction 0.91485231360628 Functional Loss - F11 ENSG00000088926 CDS Human protein_coding chr4:187209614 chr4:187209614 nonsynonymous SNV 0.229 5 21 hm5C_associated_SNPs_48778 2 Likely pathogenic Hereditary factor XI deficiency disease RCV000454166.1
3875 chr15 72104192 72104192 1 + C T UCEC 72104192 + 72104172 72104212 41 GCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTG GCTGAAGAAGTGCCTGCAGGTGGGGATGAACCAGGACGGTG Direct Loss 0.95722819721398 0 0.9134007 0.8878267 prediction 0.91445639442796 Functional Loss - NR2E3 ENSG00000031544 ncRNA_exonic Human other chr15:72104192 chr15:72104192 . 0.978 1 21 hm5C_associated_SNPs_48803 2 Uncertain significance Retinitis Pigmentosa, Recessive RCV000344581.1
3875 chr15 72104192 72104192 1 + C T UCEC 72104192 + 72104172 72104212 41 GCTGAAGAAGTGCCTGCAGGCGGGGATGAACCAGGACGGTG GCTGAAGAAGTGCCTGCAGGTGGGGATGAACCAGGACGGTG Direct Loss 0.95722819721398 0 0.9134007 0.8878267 prediction 0.91445639442796 Functional Loss - NR2E3 ENSG00000031544 ncRNA_exonic Human other chr15:72104192 chr15:72104192 . 0.978 1 21 hm5C_associated_SNPs_48803 2 Uncertain significance Enhanced s-cone syndrome RCV000382592.1
3875 chr11 67376950 67376950 1 + C T rs199702939 67376950 + 67376930 67376970 41 TATCTGGTGGTGAACGCAGACGAGGGGGAGCCGGGCACCTG TATCTGGTGGTGAACGCAGATGAGGGGGAGCCGGGCACCTG Direct Loss 0.956438039497226 0 0.8799412 0.83972454 prediction 0.912876078994452 Functional Loss - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67376950 chr11:67376950 synonymous SNV . 0 21 hm5C_associated_SNPs_48910 1 Likely benign not specified RCV000434275.1
3875 chrX 46719498 46719498 1 + C T rs1805147 46719498 + 46719478 46719518 41 AGGATGCTCAAAGGGTTTTTCGGGAAAAAGCACCTGACTTC AGGATGCTCAAAGGGTTTTTTGGGAAAAAGCACCTGACTTC Direct Loss 0.955319215573084 0 0.9083562 0.79390097 prediction 0.910638431146167 Functional Loss - RP2 ENSG00000102218 CDS Human protein_coding chrX:46719498 chrX:46719498 nonsynonymous SNV 0.996 0 21 hm5C_associated_SNPs_49058 2 other not specified RCV000177264.1
3875 chrX 46719498 46719498 1 + C T rs1805147 46719498 + 46719478 46719518 41 AGGATGCTCAAAGGGTTTTTCGGGAAAAAGCACCTGACTTC AGGATGCTCAAAGGGTTTTTTGGGAAAAAGCACCTGACTTC Direct Loss 0.955319215573084 0 0.9083562 0.79390097 prediction 0.910638431146167 Functional Loss - RP2 ENSG00000102218 CDS Human protein_coding chrX:46719498 chrX:46719498 nonsynonymous SNV 0.996 0 21 hm5C_associated_SNPs_49058 2 Likely benign Retinitis pigmentosa 15 RCV000326876.1
3875 chr19 48345763 48345763 1 + C T rs146417527 48345763 + 48345743 48345783 41 GCAGGAGAATTGCTGGAACCCGGGAGGCGGAGGTTGAAGAG GCAGGAGAATTGCTGGAACCTGGGAGGCGGAGGTTGAAGAG Direct Loss 0.955226157439301 0 0.91371894 0.9054668 prediction 0.910452314878601 Functional Loss - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48345763 chr19:48345763 . . 0 21 hm5C_associated_SNPs_49066 3 Likely benign Leber congenital amaurosis RCV000282067.1
3875 chr19 48345763 48345763 1 + C T rs146417527 48345763 + 48345743 48345783 41 GCAGGAGAATTGCTGGAACCCGGGAGGCGGAGGTTGAAGAG GCAGGAGAATTGCTGGAACCTGGGAGGCGGAGGTTGAAGAG Direct Loss 0.955226157439301 0 0.91371894 0.9054668 prediction 0.910452314878601 Functional Loss - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48345763 chr19:48345763 . . 0 21 hm5C_associated_SNPs_49066 3 Likely benign Cone-Rod Dystrophy, Dominant RCV000337066.1
3875 chr19 48345763 48345763 1 + C T rs146417527 48345763 + 48345743 48345783 41 GCAGGAGAATTGCTGGAACCCGGGAGGCGGAGGTTGAAGAG GCAGGAGAATTGCTGGAACCTGGGAGGCGGAGGTTGAAGAG Direct Loss 0.955226157439301 0 0.91371894 0.9054668 prediction 0.910452314878601 Functional Loss - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48345763 chr19:48345763 . . 0 21 hm5C_associated_SNPs_49066 3 Likely benign Retinitis Pigmentosa, Dominant RCV000395396.1
3875 chr1 156144970 156144970 1 + C T LAML 156144970 + 156144950 156144990 41 GTGTGGACTGTGTCCTTGCCCGGGACCCCCACTGTGCCTGG GTGTGGACTGTGTCCTTGCCTGGGACCCCCACTGTGCCTGG Direct Loss 0.955158963369592 0 0.86498845 0.6662965 prediction 0.910317926739185 Functional Loss - SEMA4A ENSG00000196189 CDS Human protein_coding chr1:156144970 chr1:156144970 nonsynonymous SNV 0.999 4 21 hm5C_associated_SNPs_49076 1 Likely pathogenic not provided RCV000437436.1
3875 chr22 32870769 32870769 1 + C T rs2072814 32870769 + 32870749 32870789 41 CCAGCTCTCGGGGTCGGCTCCAGGAGGCGCCCTCAGGAGAG CCAGCTCTCGGGGTCGGCTCTAGGAGGCGCCCTCAGGAGAG Direct Loss 0.955073526974166 0 0.94321644 0.9451447 prediction 0.910147053948331 Functional Loss - FBXO7 ENSG00000100225 UTR5 Human protein_coding chr22:32870769 chr22:32870769 . . 0 21 hm5C_associated_SNPs_49091 1 Benign Parkinson Disease, Recessive RCV000269648.1
3875 chr1 168260509 168260509 1 + C T UCEC 168260509 + 168260489 168260529 41 CACCGCTGGAAGTACGTCAACGGGGAATGGGTGCCCGCTGG CACCGCTGGAAGTACGTCAATGGGGAATGGGTGCCCGCTGG Direct Loss 0.954248322402166 0 0.9239499 0.86284935 prediction 0.908496644804332 Functional Loss - TBX19 ENSG00000143178 CDS Human protein_coding chr1:168260509 chr1:168260509 synonymous SNV . 0 21 hm5C_associated_SNPs_49186 1 Uncertain significance ACTH deficiency RCV000346845.1
3875 chr1 65886400 65886400 1 + C T rs189950527 65886400 + 65886380 65886420 41 AAGCAGCCGCGGCCCCAGTTCGGGAGACATGGCGGGCGTTA AAGCAGCCGCGGCCCCAGTTTGGGAGACATGGCGGGCGTTA Direct Loss 0.953669920975001 0 0.9348383 0.9085053 prediction 0.907339841950003 Functional Loss - LEPR;LEPROT ENSG00000116678;ENSG00000213625 UTR5 Human other chr1:65886400 chr1:65886400 . . 0 21 hm5C_associated_SNPs_49268 2 Uncertain significance Monogenic Non-Syndromic Obesity RCV000311543.1
3875 chr1 65886400 65886400 1 + C T rs189950527 65886400 + 65886380 65886420 41 AAGCAGCCGCGGCCCCAGTTCGGGAGACATGGCGGGCGTTA AAGCAGCCGCGGCCCCAGTTTGGGAGACATGGCGGGCGTTA Direct Loss 0.953669920975001 0 0.9348383 0.9085053 prediction 0.907339841950003 Functional Loss - LEPR;LEPROT ENSG00000116678;ENSG00000213625 UTR5 Human other chr1:65886400 chr1:65886400 . . 0 21 hm5C_associated_SNPs_49268 2 Uncertain significance Leptin receptor deficiency RCV000350019.1
3875 chr1 227171527 227171527 1 + C T READ 227171527 + 227171507 227171547 41 CCCTGGAGTGTGACTACCAGCGAGAGGCCGCCTGTGCCCGC CCCTGGAGTGTGACTACCAGTGAGAGGCCGCCTGTGCCCGC Direct Loss 0.953464125918072 0 0.8869479 0.5523644 prediction 0.906928251836145 Functional Loss - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227171527 chr1:227171527 stopgain 0.477 1 21 hm5C_associated_SNPs_49293 1 Pathogenic not provided RCV000427838.1
3875 chr1 236902695 236902695 1 + C T UCEC 236902695 + 236902675 236902715 41 AGAAGAAGCTGGAGGACTTCCGGGATTACCGCCGGAAGCAC AGAAGAAGCTGGAGGACTTCTGGGATTACCGCCGGAAGCAC Direct Loss 0.95314347673835 0 0.89189667 0.72110647 prediction 0.9062869534767 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236902695 chr1:236902695 nonsynonymous SNV 1.000 4 21 hm5C_associated_SNPs_49336 1 Uncertain significance not specified RCV000421395.1
3875 chr3 128445096 128445096 1 + C T rs374777610 128445096 + 128445076 128445116 41 GGAGAGCTCGGGAGAGTTCCCTGGAACCAGAACTTGGACCT GGAGAGCTCGGGAGAGTTCCTTGGAACCAGAACTTGGACCT Direct Loss 0.953139938825357 0 0.9139247 0.8395022 prediction 0.906279877650713 Functional Loss - RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445096 chr3:128445096 . . 0 21 hm5C_associated_SNPs_49337 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000274846.1
3875 chr7 193399 193399 1 + C A rs538469200 193399 + 193379 193419 41 GGCCCAGGTTCGGGGCCGCCCCGGGGAGCCCCCGGCCGCCT GGCCCAGGTTCGGGGCCGCCACGGGGAGCCCCCGGCCGCCT Direct Loss 0.950342979644361 0 0.9417852 0.94112736 prediction 0.900685959288722 Functional Loss - FAM20C ENSG00000177706 CDS Human protein_coding chr7:193399 chr7:193399 nonsynonymous SNV 0.109 2 21 hm5C_associated_SNPs_49710 1 Likely benign not specified RCV000270050.1
3875 chr10 43597981 43597981 1 + C T READ 43597981 + 43597961 43598001 41 CAAGGCCCTCCTTCCGCATTCGGGAGAACCGACCCCCAGGC CAAGGCCCTCCTTCCGCATTTGGGAGAACCGACCCCCAGGC Direct Loss 0.95006146948919 0 0.9503663 0.93286914 prediction 0.900122938978381 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43597981 chr10:43597981 nonsynonymous SNV 0.632 3 21 hm5C_associated_SNPs_49748 1 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000475509.1
3875 chr19 50905323 50905323 1 + C T COAD 50905323 + 50905303 50905343 41 GCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACTGG GCCATCAGCCGGGACAGTCGTGGGGGGAGGGAGCTGACTGG Direct Loss 0.949808772014576 0 0.9447633 0.9298469 prediction 0.899617544029152 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905323 chr19:50905323 synonymous SNV . 0 21 hm5C_associated_SNPs_49768 1 Likely benign Colorectal cancer 10 RCV000231952.1
3875 chr14 90510947 90510947 1 + C G rs35944390 90510947 + 90510927 90510967 41 GTGGGGGTGTGGCGATAGAGCAGGAGGCAGGGAGACAGGGC GTGGGGGTGTGGCGATAGAGGAGGAGGCAGGGAGACAGGGC Direct Loss 0.949479905914179 0 0.85968816 0.8403084 prediction 0.898959811828357 Functional Loss - TDP1 ENSG00000042088 UTR3 Human protein_coding chr14:90510947 chr14:90510947 . . 0 21 hm5C_associated_SNPs_49806 1 Likely benign Spinocerebellar Ataxia, Recessive RCV000304913.1
3875 chr9 2622264 2622264 1 + C T rs532555108 2622264 + 2622244 2622284 41 CCCCGGGAGAGCGGCGCCACCGGAACCGGTGAGTGAGGACG CCCCGGGAGAGCGGCGCCACTGGAACCGGTGAGTGAGGACG Direct Loss 0.94935053921352 0 0.7693813 0.38384157 prediction 0.898701078427039 Functional Loss - VLDLR ENSG00000147852 CDS Human protein_coding chr9:2622264 chr9:2622264 synonymous SNV . 0 21 hm5C_associated_SNPs_49826 1 Likely benign not specified RCV000194158.1
3875 chr20 30408136 30408136 1 + C T rs121908107 30408136 + 30408116 30408156 41 TGACAGGGGCGGGGGGCCCGCGGAGGGCAGTGCTGGGCCCC TGACAGGGGCGGGGGGCCCGTGGAGGGCAGTGCTGGGCCCC Direct Loss 0.948997179425158 0 0.91301316 0.8974068 prediction 0.897994358850317 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408136 chr20:30408136 nonsynonymous SNV 0.523 1 21 hm5C_associated_SNPs_49876 1 Pathogenic Cardiomyopathy, hypertrophic, midventricular, digenic RCV000004465.2
3875 chr11 6629665 6629665 1 + C T rs1043388 6629665 + 6629645 6629685 41 ATCAATGCAGTGAATGAACACGGGAATGTGCCCCTGCACTA ATCAATGCAGTGAATGAACATGGGAATGTGCCCCTGCACTA Direct Loss 0.948971537724867 0 0.91267157 0.8767961 prediction 0.897943075449734 Functional Loss - ILK ENSG00000166333 CDS Human protein_coding chr11:6629665 chr11:6629665 synonymous SNV . 0 21 hm5C_associated_SNPs_49880 1 Benign not specified RCV000125415.2
3875 chr19 35521630 35521630 1 + C T rs569134158 35521630 + 35521610 35521650 41 CTGCTGCGCCCGCGCGCTCCCGGGGACATTCTAACCGCCGC CTGCTGCGCCCGCGCGCTCCTGGGGACATTCTAACCGCCGC Direct Loss 0.948816203696925 0 0.9389587 0.9044442 prediction 0.89763240739385 Functional Loss - SCN1B ENSG00000105711 UTR5 Human protein_coding chr19:35521630 chr19:35521630 . . 0 21 hm5C_associated_SNPs_49908 3 Likely benign Generalized epilepsy with febrile seizures plus RCV000262097.1
3875 chr19 35521630 35521630 1 + C T rs569134158 35521630 + 35521610 35521650 41 CTGCTGCGCCCGCGCGCTCCCGGGGACATTCTAACCGCCGC CTGCTGCGCCCGCGCGCTCCTGGGGACATTCTAACCGCCGC Direct Loss 0.948816203696925 0 0.9389587 0.9044442 prediction 0.89763240739385 Functional Loss - SCN1B ENSG00000105711 UTR5 Human protein_coding chr19:35521630 chr19:35521630 . . 0 21 hm5C_associated_SNPs_49908 3 Likely benign Cardiac conduction defect, nonspecific RCV000319533.1
3875 chr19 35521630 35521630 1 + C T rs569134158 35521630 + 35521610 35521650 41 CTGCTGCGCCCGCGCGCTCCCGGGGACATTCTAACCGCCGC CTGCTGCGCCCGCGCGCTCCTGGGGACATTCTAACCGCCGC Direct Loss 0.948816203696925 0 0.9389587 0.9044442 prediction 0.89763240739385 Functional Loss - SCN1B ENSG00000105711 UTR5 Human protein_coding chr19:35521630 chr19:35521630 . . 0 21 hm5C_associated_SNPs_49908 3 Likely benign Brugada syndrome RCV000354343.1
3875 chrX 585258 585258 1 + C A rs113313554 585258 + 585238 585278 41 CCGAGTCCGCACAGGGTTTGCGGGAGGTGGTGACCGCGCTG CCGAGTCCGCACAGGGTTTGAGGGAGGTGGTGACCGCGCTG Direct Loss 0.948698328563921 0 0.9102515 0.90547335 prediction 0.897396657127843 Functional Loss - SHOX ENSG00000185960 UTR5 Human protein_coding chrX:585258 chrX:585258 . . 0 21 hm5C_associated_SNPs_49929 1 Pathogenic Short stature, idiopathic, X-linked RCV000190324.1
3875 chr14 32329401 32329401 1 + C A rs551958784 32329401 + 32329381 32329421 41 TGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAA TGCCTGTAATCCCAGCTACTAGGGAGGCTGAGGCAGGAGAA Direct Loss 0.948314489827303 0 0.9212084 0.9038175 prediction 0.896628979654606 Functional Loss - NUBPL ENSG00000151413 UTR3 Human protein_coding chr14:32329401 chr14:32329401 . . 0 21 hm5C_associated_SNPs_49980 1 Uncertain significance Mitochondrial complex I deficiency RCV000331454.1
3875 chr1 156105746 156105746 1 + C T UCEC 156105746 + 156105726 156105766 41 AGGACTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTG AGGACTCACTGGCCCGTGAGTGGGACACCAGCCGGCGGCTG Direct Loss 0.947979343228658 0 0.91106457 0.86360204 prediction 0.895958686457317 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156105746 chr1:156105746 nonsynonymous SNV 0.998 5 21 hm5C_associated_SNPs_50031 1 Uncertain significance not specified RCV000236116.2
3875 chr8 11566283 11566283 1 + C T rs56348550 11566283 + 11566263 11566303 41 CAGTACGGGCGCGCCGGCTTCGCGGGCTCCTACTCCAGCCC CAGTACGGGCGCGCCGGCTTTGCGGGCTCCTACTCCAGCCC Direct Loss 0.9479306469409 0 0.9112277 0.8979599 prediction 0.8958612938818 Functional Loss - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11566283 chr8:11566283 synonymous SNV . 0 21 hm5C_associated_SNPs_50040 1 Benign Atrioventricular septal defect 4 RCV000474449.1
3875 chr3 129249837 129249837 1 + C A SARC 129249837 + 129249817 129249857 41 ATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTG ATCATGGGCGTTGCCTTCACATGGGTCATGGCGCTGGCCTG Direct Loss 0.947907561533215 0 0.8886845 0.58120805 prediction 0.89581512306643 Functional Loss - RHO ENSG00000163914 CDS Human protein_coding chr3:129249837 chr3:129249837 synonymous SNV . 0 21 hm5C_associated_SNPs_50050 2 Likely benign Retinitis Pigmentosa, Dominant/Recessive RCV000309251.1
3875 chr3 129249837 129249837 1 + C A SARC 129249837 + 129249817 129249857 41 ATCATGGGCGTTGCCTTCACCTGGGTCATGGCGCTGGCCTG ATCATGGGCGTTGCCTTCACATGGGTCATGGCGCTGGCCTG Direct Loss 0.947907561533215 0 0.8886845 0.58120805 prediction 0.89581512306643 Functional Loss - RHO ENSG00000163914 CDS Human protein_coding chr3:129249837 chr3:129249837 synonymous SNV . 0 21 hm5C_associated_SNPs_50050 2 Likely benign Congenital Stationary Night Blindness, Dominant RCV000389975.1
3875 chr17 78092070 78092070 1 + C T rs121907943 78092070 + 78092050 78092090 41 TGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGAC TGACCAAGGGTGGGGAGGCCTGAGGGGAGCTGTTCTGGGAC Direct Loss 0.947840165415031 0 0.9102343 0.9053564 prediction 0.895680330830062 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78092070 chr17:78092070 stopgain 0.021 0 21 hm5C_associated_SNPs_50057 2 Pathogenic Glycogen storage disease, type II RCV000004249.5
3875 chr17 78092070 78092070 1 + C T rs121907943 78092070 + 78092050 78092090 41 TGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGAC TGACCAAGGGTGGGGAGGCCTGAGGGGAGCTGTTCTGGGAC Direct Loss 0.947840165415031 0 0.9102343 0.9053564 prediction 0.895680330830062 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78092070 chr17:78092070 stopgain 0.021 0 21 hm5C_associated_SNPs_50057 2 Pathogenic not provided RCV000255539.1
3875 chr2 26678082 26678082 1 + A C rs115095929 26678078 + 26678058 26678098 41 ACACAGAGCTGCAGGCGCTACTGCAGCAGTATCTGAACTCC ACACAGAGCTGCAGGCGCTACTGCCGCAGTATCTGAACTCC < 41bp 0.886626495076217 0.548240448041464 0.4564768 0.2703565 prediction 0.676772094069507 Functional Loss - DRC1 ENSG00000157856 CDS Human protein_coding chr2:26678078 chr2:26678082 nonsynonymous SNV 0.215 3 25 hm5C_associated_SNPs_50598 1 Benign Primary ciliary dyskinesia RCV000475548.1
3875 chr15 65369531 65369531 1 + G T rs2946642 65369528 + 65369508 65369548 41 CGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGG CGCGACGTGTTCCACAGTGCCGCTCTCTTCATCTGCGACGG < 41bp 0.852011979243981 0.515553388980072 0.16155699 0.07876074 prediction 0.672917180527816 Functional Loss - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369528 chr15:65369531 synonymous SNV . 0 24 hm5C_associated_SNPs_50705 2 Benign not specified RCV000117310.3
3875 chr15 65369531 65369531 1 + G T rs2946642 65369528 + 65369508 65369548 41 CGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACGG CGCGACGTGTTCCACAGTGCCGCTCTCTTCATCTGCGACGG < 41bp 0.852011979243981 0.515553388980072 0.16155699 0.07876074 prediction 0.672917180527816 Functional Loss - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369528 chr15:65369531 synonymous SNV . 0 24 hm5C_associated_SNPs_50705 2 Benign Nemaline Myopathy, Dominant RCV000315819.1
3875 chr4 187112682 187112682 1 + A C rs7662717 187112678 + 187112658 187112698 41 TCCCGGCGCAGCCTCCGGGCCTCCAGTGCAATCACTACGCC TCCCGGCGCAGCCTCCGGGCCTCCCGTGCAATCACTACGCC < 41bp 0.854972421121494 0.519200818833483 0.9305332 0.21890214 prediction 0.671543204576021 Functional Loss - CYP4V2 ENSG00000145476 UTR5 Human protein_coding chr4:187112678 chr4:187112682 . . 0 25 hm5C_associated_SNPs_50745 2 Benign Bietti crystalline corneoretinal dystrophy RCV000343556.1
3875 chr4 187112682 187112682 1 + A C rs7662717 187112678 + 187112658 187112698 41 TCCCGGCGCAGCCTCCGGGCCTCCAGTGCAATCACTACGCC TCCCGGCGCAGCCTCCGGGCCTCCCGTGCAATCACTACGCC < 41bp 0.854972421121494 0.519200818833483 0.9305332 0.21890214 prediction 0.671543204576021 Functional Loss - CYP4V2 ENSG00000145476 UTR5 Human protein_coding chr4:187112678 chr4:187112682 . . 0 25 hm5C_associated_SNPs_50745 2 Benign Corneal Dystrophy, Recessive RCV000404040.1
3875 chr4 619560 619560 1 + G T rs79826315 619557 + 619537 619577 41 CGCCGGACTGCGACAGCCTCCGGGACCTCTGCCAGGTGGAG CGCCGGACTGCGACAGCCTCCGGTACCTCTGCCAGGTGGAG < 41bp 0.856334817842685 0.522947602197527 0.8828597 0.8040231 prediction 0.666774431290315 Functional Loss - PDE6B ENSG00000133256 CDS Human protein_coding chr4:619557 chr4:619560 nonsynonymous SNV 0.584 1 24 hm5C_associated_SNPs_50906 4 Benign not specified RCV000127395.1
3875 chr4 619560 619560 1 + G T rs79826315 619557 + 619537 619577 41 CGCCGGACTGCGACAGCCTCCGGGACCTCTGCCAGGTGGAG CGCCGGACTGCGACAGCCTCCGGTACCTCTGCCAGGTGGAG < 41bp 0.856334817842685 0.522947602197527 0.8828597 0.8040231 prediction 0.666774431290315 Functional Loss - PDE6B ENSG00000133256 CDS Human protein_coding chr4:619557 chr4:619560 nonsynonymous SNV 0.584 1 24 hm5C_associated_SNPs_50906 4 Likely benign Congenital Stationary Night Blindness, Dominant RCV000271035.1
3875 chr4 619560 619560 1 + G T rs79826315 619557 + 619537 619577 41 CGCCGGACTGCGACAGCCTCCGGGACCTCTGCCAGGTGGAG CGCCGGACTGCGACAGCCTCCGGTACCTCTGCCAGGTGGAG < 41bp 0.856334817842685 0.522947602197527 0.8828597 0.8040231 prediction 0.666774431290315 Functional Loss - PDE6B ENSG00000133256 CDS Human protein_coding chr4:619557 chr4:619560 nonsynonymous SNV 0.584 1 24 hm5C_associated_SNPs_50906 4 Likely benign Retinitis Pigmentosa, Recessive RCV000358857.1
3875 chr4 619560 619560 1 + G T rs79826315 619557 + 619537 619577 41 CGCCGGACTGCGACAGCCTCCGGGACCTCTGCCAGGTGGAG CGCCGGACTGCGACAGCCTCCGGTACCTCTGCCAGGTGGAG < 41bp 0.856334817842685 0.522947602197527 0.8828597 0.8040231 prediction 0.666774431290315 Functional Loss - PDE6B ENSG00000133256 CDS Human protein_coding chr4:619557 chr4:619560 nonsynonymous SNV 0.584 1 24 hm5C_associated_SNPs_50906 4 Likely benign not provided RCV000439432.1
3875 chr3 12544841 12544841 1 + A C rs142211875 12544837 + 12544817 12544857 41 AGAGTACAGTGCGCAGAATCCTCAAGGATTACACGAAACCG AGAGTACAGTGCGCAGAATCCTCACGGATTACACGAAACCG < 41bp 0.832151407484074 0.435955388825277 0.040753186 0.04060313 prediction 0.664302814968148 Functional Loss - TSEN2 ENSG00000154743 CDS Human protein_coding chr3:12544837 chr3:12544841 nonsynonymous SNV 0.002 0 25 hm5C_associated_SNPs_50997 3 Uncertain significance Pontocerebellar hypoplasia type 2B RCV000147753.1
3875 chr3 12544841 12544841 1 + A C rs142211875 12544837 + 12544817 12544857 41 AGAGTACAGTGCGCAGAATCCTCAAGGATTACACGAAACCG AGAGTACAGTGCGCAGAATCCTCACGGATTACACGAAACCG < 41bp 0.832151407484074 0.435955388825277 0.040753186 0.04060313 prediction 0.664302814968148 Functional Loss - TSEN2 ENSG00000154743 CDS Human protein_coding chr3:12544837 chr3:12544841 nonsynonymous SNV 0.002 0 25 hm5C_associated_SNPs_50997 3 Likely benign not specified RCV000243735.1
3875 chr3 12544841 12544841 1 + A C rs142211875 12544837 + 12544817 12544857 41 AGAGTACAGTGCGCAGAATCCTCAAGGATTACACGAAACCG AGAGTACAGTGCGCAGAATCCTCACGGATTACACGAAACCG < 41bp 0.832151407484074 0.435955388825277 0.040753186 0.04060313 prediction 0.664302814968148 Functional Loss - TSEN2 ENSG00000154743 CDS Human protein_coding chr3:12544837 chr3:12544841 nonsynonymous SNV 0.002 0 25 hm5C_associated_SNPs_50997 3 Likely benign Pontoneocerebellar hypoplasia RCV000363886.1
3875 chr17 46025106 46025106 1 + G T rs189494213 46025103 + 46025083 46025123 41 TGGGGTTTCACCATGTTGGCCAGGATTGTCTCCATCTCTTG TGGGGTTTCACCATGTTGGCCAGTATTGTCTCCATCTCTTG < 41bp 0.830299863376706 0.484876527286216 0.7768671 0.03813237 prediction 0.660599726753412 Functional Loss - PNPO ENSG00000263798;ENSG00000264019 ncRNA_intronic Human other chr17:46025103 chr17:46025106 . . 0 24 hm5C_associated_SNPs_51122 1 Uncertain significance Pyridoxal 5'-phosphate-dependent epilepsy RCV000364745.1
3875 chr2 48018102 48018102 1 + G T UCEC 48018099 + 48018079 48018119 41 CCAGGAGATTTGGTTTGGGCCAAGATGGAGGGTTACCCCTG CCAGGAGATTTGGTTTGGGCCAATATGGAGGGTTACCCCTG < 41bp 0.852046216513594 0.522010044078551 0.733453 0.4444609 prediction 0.660072344870085 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48018099 chr2:48018102 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_51143 1 Uncertain significance Lynch syndrome RCV000074792.2
3875 chr7 75933446 75933446 1 + G T LUAD 75933443 + 75933423 75933463 41 CCTTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCA CCTTCGAGTCGCGGGCCCAGCTTTGGGGCCCAGAAGCTGCA < 41bp 0.829630519396704 0.482330988412812 0.1209515 0.03204325 prediction 0.659261038793409 Functional Loss - HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933443 chr7:75933446 nonsynonymous SNV 0.837 4 24 hm5C_associated_SNPs_51167 1 Uncertain significance not specified RCV000236155.1
3875 chr10 124768459 124768459 1 + G T rs150850221 124768456 + 124768436 124768476 41 AAGGGGGGGTGTGTGCGGGGCGGGTACTGAGTGGGCGGGGC AAGGGGGGGTGTGTGCGGGGCGGTTACTGAGTGGGCGGGGC < 41bp 0.83871674174949 0.510916867656102 0.9232075 0.9054246 prediction 0.655599748186775 Functional Loss - ACADSB ENSG00000095574;ENSG00000196177 upstream Human other chr10:124768456 chr10:124768459 . . 0 24 hm5C_associated_SNPs_51323 1 Likely benign Deficiency of 2-methylbutyryl-CoA dehydrogenase RCV000383769.1
3875 chr12 112926888 112926888 1 + G T COAD 112926885 + 112926865 112926905 41 GATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAG GATGGTGCGGTCTCAGAGGTCAGTGATGGTCCAGACAGAAG < 41bp 0.827194434481082 0.465749501994531 0.9094713 0.48002777 prediction 0.654388868962163 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926885 chr12:112926888 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_51374 5 Likely pathogenic Squamous cell carcinoma of lung RCV000419381.1
3875 chr12 112926888 112926888 1 + G T COAD 112926885 + 112926865 112926905 41 GATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAG GATGGTGCGGTCTCAGAGGTCAGTGATGGTCCAGACAGAAG < 41bp 0.827194434481082 0.465749501994531 0.9094713 0.48002777 prediction 0.654388868962163 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926885 chr12:112926888 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_51374 5 Likely pathogenic Multiple myeloma RCV000429259.1
3875 chr12 112926888 112926888 1 + G T COAD 112926885 + 112926865 112926905 41 GATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAG GATGGTGCGGTCTCAGAGGTCAGTGATGGTCCAGACAGAAG < 41bp 0.827194434481082 0.465749501994531 0.9094713 0.48002777 prediction 0.654388868962163 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926885 chr12:112926888 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_51374 5 Likely pathogenic Adenocarcinoma of lung RCV000430281.1
3875 chr12 112926888 112926888 1 + G T COAD 112926885 + 112926865 112926905 41 GATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAG GATGGTGCGGTCTCAGAGGTCAGTGATGGTCCAGACAGAAG < 41bp 0.827194434481082 0.465749501994531 0.9094713 0.48002777 prediction 0.654388868962163 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926885 chr12:112926888 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_51374 5 Likely pathogenic Colorectal Neoplasms RCV000439943.1
3875 chr12 112926888 112926888 1 + G T COAD 112926885 + 112926865 112926905 41 GATGGTGCGGTCTCAGAGGTCAGGGATGGTCCAGACAGAAG GATGGTGCGGTCTCAGAGGTCAGTGATGGTCCAGACAGAAG < 41bp 0.827194434481082 0.465749501994531 0.9094713 0.48002777 prediction 0.654388868962163 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926885 chr12:112926888 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_51374 5 Likely pathogenic Adenocarcinoma of stomach RCV000440091.1
3875 chr1 196654324 196654324 1 + A C rs1061147 196654320 + 196654300 196654340 41 TCCTGCAACCCGGGGAAATACAGCAAAATGCACAAGTACTG TCCTGCAACCCGGGGAAATACAGCCAAATGCACAAGTACTG < 41bp 0.887908785402296 0.561533693091216 0.5140585 0.6903584 prediction 0.65275018462216 Functional Loss - CFH ENSG00000000971 CDS Human protein_coding chr1:196654320 chr1:196654324 synonymous SNV . 0 25 hm5C_associated_SNPs_51437 4 Benign Macular degeneration RCV000267123.1
3875 chr1 196654324 196654324 1 + A C rs1061147 196654320 + 196654300 196654340 41 TCCTGCAACCCGGGGAAATACAGCAAAATGCACAAGTACTG TCCTGCAACCCGGGGAAATACAGCCAAATGCACAAGTACTG < 41bp 0.887908785402296 0.561533693091216 0.5140585 0.6903584 prediction 0.65275018462216 Functional Loss - CFH ENSG00000000971 CDS Human protein_coding chr1:196654320 chr1:196654324 synonymous SNV . 0 25 hm5C_associated_SNPs_51437 4 Benign Basal laminar drusen RCV000305955.1
3875 chr1 196654324 196654324 1 + A C rs1061147 196654320 + 196654300 196654340 41 TCCTGCAACCCGGGGAAATACAGCAAAATGCACAAGTACTG TCCTGCAACCCGGGGAAATACAGCCAAATGCACAAGTACTG < 41bp 0.887908785402296 0.561533693091216 0.5140585 0.6903584 prediction 0.65275018462216 Functional Loss - CFH ENSG00000000971 CDS Human protein_coding chr1:196654320 chr1:196654324 synonymous SNV . 0 25 hm5C_associated_SNPs_51437 4 Benign Mesangiocapillary glomerulonephritis, type II RCV000354801.1
3875 chr1 196654324 196654324 1 + A C rs1061147 196654320 + 196654300 196654340 41 TCCTGCAACCCGGGGAAATACAGCAAAATGCACAAGTACTG TCCTGCAACCCGGGGAAATACAGCCAAATGCACAAGTACTG < 41bp 0.887908785402296 0.561533693091216 0.5140585 0.6903584 prediction 0.65275018462216 Functional Loss - CFH ENSG00000000971 CDS Human protein_coding chr1:196654320 chr1:196654324 synonymous SNV . 0 25 hm5C_associated_SNPs_51437 4 Benign Atypical hemolytic uremic syndrome RCV000358116.1
3875 chr22 37273779 37273779 1 + G T rs199618052 37273776 + 37273756 37273796 41 CGCTCATGGTGCGGCAGGCTCGTGGCCTCCCCTCCCAGAAG CGCTCATGGTGCGGCAGGCTCGTTGCCTCCCCTCCCAGAAG < 41bp 0.876448859203733 0.5503398718926 0.8965751 0.22778553 prediction 0.652217974622266 Functional Loss - NCF4 ENSG00000100365 CDS Human protein_coding chr22:37273776 chr22:37273779 nonsynonymous SNV 0.002 2 24 hm5C_associated_SNPs_51467 1 Uncertain significance Chronic granulomatous disease RCV000350593.1
3875 chr1 240370935 240370935 1 + A C OV 240370931 + 240370911 240370951 41 TCTGCCCCCTCTACCCGGAGCGGGAATACCTCCTCCGCCCC TCTGCCCCCTCTACCCGGAGCGGGCATACCTCCTCCGCCCC < 41bp 0.83688343001795 0.512804294566706 0.9289522 0.9248925 prediction 0.648158270902488 Functional Loss - FMN2 ENSG00000155816 CDS Human protein_coding chr1:240370931 chr1:240370935 synonymous SNV . 0 25 hm5C_associated_SNPs_51648 1 Likely benign not specified RCV000501115.1
3875 chr16 72042682 72042682 1 + A C rs3213422 72042678 + 72042658 72042698 41 AGGAGCATGGCGTGGAGACACCTGAAAGTGAGTCCCGCGAG AGGAGCATGGCGTGGAGACACCTGCAAGTGAGTCCCGCGAG < 41bp 0.819444268779662 0.461145118067076 0.19021833 0.09813237 prediction 0.638888537559323 Functional Loss - DHODH ENSG00000102967 CDS Human protein_coding chr16:72042678 chr16:72042682 nonsynonymous SNV 0.998 1 25 hm5C_associated_SNPs_52102 2 other not specified RCV000116875.3
3875 chr16 72042682 72042682 1 + A C rs3213422 72042678 + 72042658 72042698 41 AGGAGCATGGCGTGGAGACACCTGAAAGTGAGTCCCGCGAG AGGAGCATGGCGTGGAGACACCTGCAAGTGAGTCCCGCGAG < 41bp 0.819444268779662 0.461145118067076 0.19021833 0.09813237 prediction 0.638888537559323 Functional Loss - DHODH ENSG00000102967 CDS Human protein_coding chr16:72042678 chr16:72042682 nonsynonymous SNV 0.998 1 25 hm5C_associated_SNPs_52102 2 Benign Miller syndrome RCV000321810.1
3875 chr1 223116474 223116474 1 + G T rs2789975 223116471 + 223116451 223116491 41 AGTCACCAAGAGTGCCATCCCGAGGCTGGCCCTGCAGCACC AGTCACCAAGAGTGCCATCCCGATGCTGGCCCTGCAGCACC < 41bp 0.879300029203768 0.560721203748037 0.9359889 0.48790264 prediction 0.637157650911462 Functional Loss - DISP1 ENSG00000154309 CDS Human protein_coding chr1:223116471 chr1:223116474 nonsynonymous SNV 0.941 1 24 hm5C_associated_SNPs_52196 1 Benign not specified RCV000244588.1
3875 chr4 187192858 187192858 1 + A C LUAD 187192854 + 187192834 187192874 41 GCCAAGTACTGCCAGGTAGTCTGCACTTACCACCCAAGATG GCCAAGTACTGCCAGGTAGTCTGCCCTTACCACCCAAGATG < 41bp 0.898091570845114 0.58036370712619 0.06137967 0.08077809 prediction 0.635455727437848 Functional Loss - F11 ENSG00000088926 CDS Human protein_coding chr4:187192854 chr4:187192858 nonsynonymous SNV 0.125 5 25 hm5C_associated_SNPs_52277 1 not provided not provided RCV000059012.1
3875 chr19 45452429 45452429 1 + A C rs5126 45452425 + 45452405 45452445 41 TTTCTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCAT TTTCTCCCCAGGGACTTGTACAGCCAAAGCACAGCAGCCAT < 41bp 0.817211359175782 0.437582036563574 0.15463659 0.20533395 prediction 0.634422718351564 Functional Loss - APOC2 ENSG00000224916;ENSG00000234906 CDS Human other chr19:45452425 chr19:45452429 nonsynonymous SNV 0.999 2 25 hm5C_associated_SNPs_52335 1 Pathogenic APOLIPOPROTEIN C-II (AFRICAN) RCV000002682.2
3875 chr14 50088247 50088247 1 + G T rs2228449 50088245 + 50088225 50088265 41 CCCAGCCCGAGGCGGACAACCTGACGCTGCGGTACCGGTCC CCCAGCCCGAGGCGGACAACCTTACGCTGCGGTACCGGTCC < 41bp 0.815800939088151 0.502121730876837 0.29437923 0.1789054 prediction 0.627358416422628 Functional Loss - MGAT2 ENSG00000168282 CDS Human protein_coding chr14:50088245 chr14:50088247 synonymous SNV . 0 23 hm5C_associated_SNPs_52744 3 Likely benign Primary ciliary dyskinesia RCV000375068.1
3875 chr14 50088247 50088247 1 + G T rs2228449 50088245 + 50088225 50088265 41 CCCAGCCCGAGGCGGACAACCTGACGCTGCGGTACCGGTCC CCCAGCCCGAGGCGGACAACCTTACGCTGCGGTACCGGTCC < 41bp 0.815800939088151 0.502121730876837 0.29437923 0.1789054 prediction 0.627358416422628 Functional Loss - MGAT2 ENSG00000168282 CDS Human protein_coding chr14:50088245 chr14:50088247 synonymous SNV . 0 23 hm5C_associated_SNPs_52744 3 Likely benign Congenital disorder of glycosylation RCV000392394.1
3875 chr14 50088247 50088247 1 + G T rs2228449 50088245 + 50088225 50088265 41 CCCAGCCCGAGGCGGACAACCTGACGCTGCGGTACCGGTCC CCCAGCCCGAGGCGGACAACCTTACGCTGCGGTACCGGTCC < 41bp 0.815800939088151 0.502121730876837 0.29437923 0.1789054 prediction 0.627358416422628 Functional Loss - MGAT2 ENSG00000168282 CDS Human protein_coding chr14:50088245 chr14:50088247 synonymous SNV . 0 23 hm5C_associated_SNPs_52744 3 Benign not specified RCV000422780.1
3875 chr5 131705526 131705526 1 + G T rs13180169 131705523 + 131705503 131705543 41 GACCAAGGCGGCGGTGTCAGCTCGCGAGCCTACCCTCCGCG GACCAAGGCGGCGGTGTCAGCTCTCGAGCCTACCCTCCGCG < 41bp 0.829168642262555 0.516082413032628 0.33633563 0.16149434 prediction 0.626172458459854 Functional Loss - MIR3936HG ENSG00000233006 ncRNA_intronic Human processed_transcript chr5:131705523 chr5:131705526 . . 0 24 hm5C_associated_SNPs_52799 1 Likely benign Renal carnitine transport defect RCV000327476.1
3875 chr17 7579312 7579312 1 + C A ACC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCACTGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.479378092719021 0.29939675 0.07642937 prediction 0.625981175107319 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579312 synonymous SNV . 0 24 hm5C_associated_SNPs_52813 1 Likely pathogenic Li-Fraumeni syndrome RCV000229813.1
3875 chr15 74219546 74219546 1 + G T rs1048661 74219543 + 74219523 74219563 41 CGGGGACAGCACGGGCATGGCCCGGGCCCGCACCTCCGTCT CGGGGACAGCACGGGCATGGCCCTGGCCCGCACCTCCGTCT < 41bp 0.872491520833034 0.560338333988209 0.7924528 0.41461456 prediction 0.62430637368965 Functional Loss - LOXL1 ENSG00000129038 CDS Human protein_coding chr15:74219543 chr15:74219546 nonsynonymous SNV 0.983 1 24 hm5C_associated_SNPs_52903 1 other Exfoliation syndrome, susceptibility to RCV000015434.2
3875 chr10 99520365 99520365 1 + A C rs1047537 99520361 + 99520341 99520381 41 ATGAGGGGGCTGAGAGGTTTCTACACTCGAGGAGCAGGGGT ATGAGGGGGCTGAGAGGTTTCTACCCTCGAGGAGCAGGGGT < 41bp 0.87549088847703 0.563667279371771 0.823815 0.22676337 prediction 0.623647218210518 Functional Loss - ZFYVE27 ENSG00000155256 UTR3 Human protein_coding chr10:99520361 chr10:99520365 . . 0 25 hm5C_associated_SNPs_52952 1 Benign Spastic Paraplegia, Dominant RCV000271494.1
3875 chr18 29099836 29099836 1 + G T LUAD 29099834 + 29099814 29099854 41 TTAGTGCGGCAAAAGCGCGCCTGGATCACCGCCCCCGTGGC TTAGTGCGGCAAAAGCGCGCCTTGATCACCGCCCCCGTGGC < 41bp 0.830050644474015 0.521491404797331 0.3204605 0.020359606 prediction 0.617118479353369 Functional Loss - DSG2 ENSG00000046604 CDS Human protein_coding chr18:29099834 chr18:29099836 nonsynonymous SNV 0.944 3 23 hm5C_associated_SNPs_53365 1 Uncertain significance not specified RCV000037266.3
3875 chr10 89692896 89692896 1 + G T UCEC 89692893 + 89692873 89692913 41 TGCAGCAATTCACTGTAAAGCTGGAAAGGGACGAACTGGTG TGCAGCAATTCACTGTAAAGCTGTAAAGGGACGAACTGGTG < 41bp 0.845189458436964 0.536832497003737 0.108899236 0.06594059 prediction 0.616713922866455 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89692893 chr10:89692896 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_53392 1 Uncertain significance not provided RCV000078614.3
3875 chr16 2134391 2134391 1 + G T CESC 2134388 + 2134368 2134408 41 TGAGCAAGTCCAGCTCCTCTCCCGAGCTGCAGACTCTGCAG TGAGCAAGTCCAGCTCCTCTCCCTAGCTGCAGACTCTGCAG < 41bp 0.867574442497521 0.559613570396399 0.80130565 0.23678884 prediction 0.615921744202244 Functional Loss - TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134388 chr16:2134391 stopgain 0.857 1 24 hm5C_associated_SNPs_53442 1 not provided Tuberous sclerosis syndrome RCV000055256.1
3875 chr19 7587652 7587652 1 + G T rs61736595 7587650 + 7587630 7587670 41 CCCCAGCATGACAGCCCCGGCGGGTCCGCGCGGCTCAGGTG CCCCAGCATGACAGCCCCGGCGTGTCCGCGCGGCTCAGGTG < 41bp 0.810184323245426 0.503557095878233 0.7845521 0.42642415 prediction 0.613254454734387 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7587650 chr19:7587652 nonsynonymous SNV 0.451 4 23 hm5C_associated_SNPs_53630 1 Uncertain significance Ganglioside sialidase deficiency RCV000400864.1
3875 chr16 57775655 57775655 1 + G T LUAD 57775653 + 57775633 57775673 41 ACTGGTGCTGGGCAAAGCCTCCGGGCGGCTGCTGGCTACAG ACTGGTGCTGGGCAAAGCCTCCTGGCGGCTGCTGGCTACAG < 41bp 0.806396572929418 0.474681643926884 0.91147846 0.41957104 prediction 0.612793145858835 Functional Loss - KATNB1 ENSG00000140854 CDS Human protein_coding chr16:57775653 chr16:57775655 nonsynonymous SNV 0.954 4 23 hm5C_associated_SNPs_53666 1 Pathogenic Lissencephaly 6, with microcephaly RCV000157601.5
3875 chr19 1220706 1220706 1 + G T LUAD 1220704 + 1220684 1220724 41 CAAGGTGGACATCTGGTCGGCTGGGGTCACCCTGTAAGTGC CAAGGTGGACATCTGGTCGGCTTGGGTCACCCTGTAAGTGC < 41bp 0.804109735248092 0.480827478882028 0.87501097 0.70037025 prediction 0.608219470496183 Functional Loss - STK11 ENSG00000118046 CDS Human protein_coding chr19:1220704 chr19:1220706 nonsynonymous SNV 0.936 5 23 hm5C_associated_SNPs_53989 1 Uncertain significance Peutz-Jeghers syndrome RCV000226562.1
3875 chr19 14038829 14038829 1 + G T rs56359259 14038827 + 14038807 14038847 41 GCTGGTCATTGACCCTGTGCCGGCAGCTGTGCCCACAGTGA GCTGGTCATTGACCCTGTGCCGTCAGCTGTGCCCACAGTGA < 41bp 0.817916048573849 0.514160701232212 0.8132782 0.25692213 prediction 0.607510694683275 Functional Loss - CC2D1A ENSG00000132024 CDS Human protein_coding chr19:14038827 chr19:14038829 nonsynonymous SNV 0.242 0 23 hm5C_associated_SNPs_54039 2 Likely benign not provided RCV000419467.1
3875 chr19 14038829 14038829 1 + G T rs56359259 14038827 + 14038807 14038847 41 GCTGGTCATTGACCCTGTGCCGGCAGCTGTGCCCACAGTGA GCTGGTCATTGACCCTGTGCCGTCAGCTGTGCCCACAGTGA < 41bp 0.817916048573849 0.514160701232212 0.8132782 0.25692213 prediction 0.607510694683275 Functional Loss - CC2D1A ENSG00000132024 CDS Human protein_coding chr19:14038827 chr19:14038829 nonsynonymous SNV 0.242 0 23 hm5C_associated_SNPs_54039 2 Benign not specified RCV000501181.1
3875 chr20 18534947 18534947 1 + G T rs7262532 18534945 + 18534925 18534965 41 ATGAAAACTTCAAGCACCTTCTGCAGGCACCACTGGATGAT ATGAAAACTTCAAGCACCTTCTTCAGGCACCACTGGATGAT < 41bp 0.803517196344785 0.497242302632467 0.07416916 0.038213223 prediction 0.607034392689571 Functional Loss - SEC23B ENSG00000101310 CDS Human protein_coding chr20:18534945 chr20:18534947 synonymous SNV . 0 23 hm5C_associated_SNPs_54072 2 Benign not specified RCV000081405.4
3875 chr20 18534947 18534947 1 + G T rs7262532 18534945 + 18534925 18534965 41 ATGAAAACTTCAAGCACCTTCTGCAGGCACCACTGGATGAT ATGAAAACTTCAAGCACCTTCTTCAGGCACCACTGGATGAT < 41bp 0.803517196344785 0.497242302632467 0.07416916 0.038213223 prediction 0.607034392689571 Functional Loss - SEC23B ENSG00000101310 CDS Human protein_coding chr20:18534945 chr20:18534947 synonymous SNV . 0 23 hm5C_associated_SNPs_54072 2 Likely benign Congenital dyserythropoietic anemia RCV000344362.1
3875 chr3 12531365 12531365 1 + A C rs62637658 12531361 + 12531341 12531381 41 AGTGTATGAGACTTACGAGTCTCCATTGCCAATCCCTTTTG AGTGTATGAGACTTACGAGTCTCCCTTGCCAATCCCTTTTG < 41bp 0.803481221805814 0.385290504872887 0.9517019 0.07390985 prediction 0.606962443611628 Functional Loss - TSEN2 ENSG00000154743 CDS Human protein_coding chr3:12531361 chr3:12531365 synonymous SNV . 0 25 hm5C_associated_SNPs_54077 2 Uncertain significance Pontocerebellar hypoplasia type 2B RCV000147758.1
3875 chr3 12531365 12531365 1 + A C rs62637658 12531361 + 12531341 12531381 41 AGTGTATGAGACTTACGAGTCTCCATTGCCAATCCCTTTTG AGTGTATGAGACTTACGAGTCTCCCTTGCCAATCCCTTTTG < 41bp 0.803481221805814 0.385290504872887 0.9517019 0.07390985 prediction 0.606962443611628 Functional Loss - TSEN2 ENSG00000154743 CDS Human protein_coding chr3:12531361 chr3:12531365 synonymous SNV . 0 25 hm5C_associated_SNPs_54077 2 Likely benign not specified RCV000438914.1
3875 chr12 52309893 52309893 1 + G T rs187902433 52309891 + 52309871 52309911 41 ACCCGAGAGTGGGCACCAAGCGGTACATGGCACCCGAGGTG ACCCGAGAGTGGGCACCAAGCGTTACATGGCACCCGAGGTG < 41bp 0.841134682529782 0.538764330582759 0.5073391 0.2975034 prediction 0.604740703894047 Functional Loss - ACVRL1 ENSG00000139567 CDS Human protein_coding chr12:52309891 chr12:52309893 synonymous SNV . 0 23 hm5C_associated_SNPs_54254 1 Benign Hereditary hemorrhagic telangiectasia type 2 RCV000457099.1
3875 chr1 226252135 226252135 1 + A T GBM 226252131 + 226252111 226252151 41 AACTGGCTACAAAAGCCGCTCGCAAGAGTGCGCCCTCTACT AACTGGCTACAAAAGCCGCTCGCATGAGTGCGCCCTCTACT < 41bp 0.813040737944063 0.511376031552865 0.68887746 0.60876834 prediction 0.603329412782396 Functional Loss - H3F3A ENSG00000163041 CDS Human protein_coding chr1:226252131 chr1:226252135 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_54353 2 Likely pathogenic Brainstem glioma RCV000425383.1
3875 chr1 226252135 226252135 1 + A T GBM 226252131 + 226252111 226252151 41 AACTGGCTACAAAAGCCGCTCGCAAGAGTGCGCCCTCTACT AACTGGCTACAAAAGCCGCTCGCATGAGTGCGCCCTCTACT < 41bp 0.813040737944063 0.511376031552865 0.68887746 0.60876834 prediction 0.603329412782396 Functional Loss - H3F3A ENSG00000163041 CDS Human protein_coding chr1:226252131 chr1:226252135 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_54353 2 Likely pathogenic Astrocytoma RCV000435644.1
3875 chr3 14177355 14177355 1 + A T rs532872056 14177351 + 14177331 14177371 41 GGTGACCAGCTAGTCCCATTCTCCACCAAGTCTGGGGATAC GGTGACCAGCTAGTCCCATTCTCCTCCAAGTCTGGGGATAC < 41bp 0.863927710532732 0.564096480212608 0.9403258 0.13012964 prediction 0.599662460640248 Functional Loss - TMEM43 ENSG00000170876;ENSG00000268279 CDS Human other chr3:14177351 chr3:14177355 nonsynonymous SNV 0.933 3 25 hm5C_associated_SNPs_54604 1 Likely benign not specified RCV000152049.3
3875 chr11 111965589 111965589 1 + G T STAD 111965586 + 111965566 111965606 41 GATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACT GATGCCTTGCAGAAAGCTGCCAATGCAGGGCTTTTGGCACT < 41bp 0.873074119653059 0.573401655986708 0.36019617 0.10726681 prediction 0.599344927332701 Functional Loss - SDHD ENSG00000204370 CDS Human protein_coding chr11:111965586 chr11:111965589 nonsynonymous SNV 0.994 1 24 hm5C_associated_SNPs_54634 4 Uncertain significance Cowden syndrome 3 RCV000230152.1
3875 chr11 111965589 111965589 1 + G T STAD 111965586 + 111965566 111965606 41 GATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACT GATGCCTTGCAGAAAGCTGCCAATGCAGGGCTTTTGGCACT < 41bp 0.873074119653059 0.573401655986708 0.36019617 0.10726681 prediction 0.599344927332701 Functional Loss - SDHD ENSG00000204370 CDS Human protein_coding chr11:111965586 chr11:111965589 nonsynonymous SNV 0.994 1 24 hm5C_associated_SNPs_54634 4 Uncertain significance Paraganglioma and gastric stromal sarcoma RCV000230152.1
3875 chr11 111965589 111965589 1 + G T STAD 111965586 + 111965566 111965606 41 GATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACT GATGCCTTGCAGAAAGCTGCCAATGCAGGGCTTTTGGCACT < 41bp 0.873074119653059 0.573401655986708 0.36019617 0.10726681 prediction 0.599344927332701 Functional Loss - SDHD ENSG00000204370 CDS Human protein_coding chr11:111965586 chr11:111965589 nonsynonymous SNV 0.994 1 24 hm5C_associated_SNPs_54634 4 Uncertain significance Paragangliomas 1 RCV000230152.1
3875 chr11 111965589 111965589 1 + G T STAD 111965586 + 111965566 111965606 41 GATGCCTTGCAGAAAGCTGCCAAGGCAGGGCTTTTGGCACT GATGCCTTGCAGAAAGCTGCCAATGCAGGGCTTTTGGCACT < 41bp 0.873074119653059 0.573401655986708 0.36019617 0.10726681 prediction 0.599344927332701 Functional Loss - SDHD ENSG00000204370 CDS Human protein_coding chr11:111965586 chr11:111965589 nonsynonymous SNV 0.994 1 24 hm5C_associated_SNPs_54634 4 Uncertain significance Pheochromocytoma RCV000230152.1
3875 chr2 176984014 176984014 1 + G T rs61070787 176984011 + 176983991 176984031 41 CAGGATTGGAGAGGGGGCACCGCGTTCCAGGGCCCAGTGCT CAGGATTGGAGAGGGGGCACCGCTTTCCAGGGCCCAGTGCT < 41bp 0.799602414861794 0.452429362133839 0.38785464 0.15887132 prediction 0.599204829723587 Functional Loss - HOXD10 ENSG00000128710 UTR3 Human protein_coding chr2:176984011 chr2:176984014 . . 0 24 hm5C_associated_SNPs_54646 1 Benign Vertical talus, congenital RCV000406755.1
3875 chr17 40688124 40688124 1 + G T rs145830042 40688121 + 40688101 40688141 41 CGGGGTCACACGCTCCCCACCGCGTGCGGTCACGAGACGCC CGGGGTCACACGCTCCCCACCGCTTGCGGTCACGAGACGCC < 41bp 0.798871965097405 0.472341012711239 0.29300374 0.14251152 prediction 0.59774393019481 Functional Loss - NAGLU ENSG00000108784;ENSG00000266929 upstream Human other chr17:40688121 chr17:40688124 . . 0 24 hm5C_associated_SNPs_54749 1 Uncertain significance Sanfilippo syndrome RCV000259543.1
3875 chr6 44274725 44274725 1 + T A rs147091256 44274729 - 44274709 44274749 41 CTGCGTCGAGCTGTGCGTTTCTCCATGGAGATCTTAAAGGC CTGCGTCGAGCTGTGCGTTTCTCCTTGGAGATCTTAAAGGC < 41bp 0.86102466825007 0.562948126784444 0.9747491 0.30820045 prediction 0.596153082931252 Functional Loss - AARS2 ENSG00000124608;ENSG00000178233;ENSG00000272442 CDS Human other chr6:44274729 chr6:44274725 nonsynonymous SNV 0.095 0 25 hm5C_associated_SNPs_54879 2 Uncertain significance Combined oxidative phosphorylation deficiency RCV000272507.1
3875 chr6 44274725 44274725 1 + T A rs147091256 44274729 - 44274709 44274749 41 CTGCGTCGAGCTGTGCGTTTCTCCATGGAGATCTTAAAGGC CTGCGTCGAGCTGTGCGTTTCTCCTTGGAGATCTTAAAGGC < 41bp 0.86102466825007 0.562948126784444 0.9747491 0.30820045 prediction 0.596153082931252 Functional Loss - AARS2 ENSG00000124608;ENSG00000178233;ENSG00000272442 CDS Human other chr6:44274729 chr6:44274725 nonsynonymous SNV 0.095 0 25 hm5C_associated_SNPs_54879 2 Uncertain significance not specified RCV000417904.1
3875 chr2 135922233 135922233 1 + G T rs144455066 135922230 + 135922210 135922250 41 GCAGGAAGAGGACATGCTGGCAGGATCATTCACAAGCTGTT GCAGGAAGAGGACATGCTGGCAGTATCATTCACAAGCTGTT < 41bp 0.797026401316444 0.430708890344716 0.87794036 0.36800054 prediction 0.594052802632888 Functional Loss - RAB3GAP1 ENSG00000115839 CDS Human protein_coding chr2:135922230 chr2:135922233 nonsynonymous SNV 0.981 1 24 hm5C_associated_SNPs_55030 1 Likely benign not specified RCV000194946.2
3875 chr17 26862032 26862032 1 + G T rs548817079 26862030 + 26862010 26862050 41 AGCCGGACGGGCACCTTGAGCTGCGGGCCCAGCCAGGCACC AGCCGGACGGGCACCTTGAGCTTCGGGCCCAGCCAGGCACC < 41bp 0.851411241568325 0.555165160652267 0.37265176 0.16653386 prediction 0.592492161832116 Functional Loss - FOXN1 ENSG00000109101 CDS Human protein_coding chr17:26862030 chr17:26862032 synonymous SNV . 0 23 hm5C_associated_SNPs_55183 1 Uncertain significance T-cell immunodeficiency, congenital alopecia and nail dystrophy RCV000283804.1
3875 chr1 150484844 150484844 1 + A T rs151102225 150484840 + 150484820 150484860 41 GTCCACAGTGGGAGGATACCCTTGACAAATACTGTGACCGG GTCCACAGTGGGAGGATACCCTTGTCAAATACTGTGACCGG < 41bp 0.811009958107437 0.515512597708325 0.08306217 0.07116136 prediction 0.590994720798223 Functional Loss - ECM1 ENSG00000143369 CDS Human protein_coding chr1:150484840 chr1:150484844 nonsynonymous SNV 0.101 5 25 hm5C_associated_SNPs_55301 1 Likely benign not provided RCV000441817.1
3875 chr9 137591855 137591855 1 + G T rs145178917 137591853 + 137591833 137591873 41 TCTACAACGAGCAGGGTATCCAGCAGATTGGGCTGGAGCTG TCTACAACGAGCAGGGTATCCATCAGATTGGGCTGGAGCTG < 41bp 0.794691173632227 0.488409945891514 0.9133946 0.2961134 prediction 0.589382347264454 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137591853 chr9:137591855 nonsynonymous SNV 0.959 3 23 hm5C_associated_SNPs_55443 3 Benign not specified RCV000124477.3
3875 chr9 137591855 137591855 1 + G T rs145178917 137591853 + 137591833 137591873 41 TCTACAACGAGCAGGGTATCCAGCAGATTGGGCTGGAGCTG TCTACAACGAGCAGGGTATCCATCAGATTGGGCTGGAGCTG < 41bp 0.794691173632227 0.488409945891514 0.9133946 0.2961134 prediction 0.589382347264454 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137591853 chr9:137591855 nonsynonymous SNV 0.959 3 23 hm5C_associated_SNPs_55443 3 Benign Ehlers-Danlos syndrome, classic type RCV000230136.2
3875 chr9 137591855 137591855 1 + G T rs145178917 137591853 + 137591833 137591873 41 TCTACAACGAGCAGGGTATCCAGCAGATTGGGCTGGAGCTG TCTACAACGAGCAGGGTATCCATCAGATTGGGCTGGAGCTG < 41bp 0.794691173632227 0.488409945891514 0.9133946 0.2961134 prediction 0.589382347264454 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137591853 chr9:137591855 nonsynonymous SNV 0.959 3 23 hm5C_associated_SNPs_55443 3 Likely benign Ehlers-Danlos syndrome, type 7A RCV000332566.1
3875 chr10 119302883 119302883 1 + A T rs373030604 119302879 + 119302859 119302899 41 CGAGGACCCCATCCGTCCCGCGGCACTCAGCTACGCTAACT CGAGGACCCCATCCGTCCCGCGGCTCTCAGCTACGCTAACT < 41bp 0.817352341866836 0.522732902817717 0.5008741 0.41902208 prediction 0.589238878098238 Functional Loss - EMX2 ENSG00000170370 CDS Human protein_coding chr10:119302879 chr10:119302883 synonymous SNV . 0 25 hm5C_associated_SNPs_55457 1 Likely benign not specified RCV000173327.1
3875 chr9 2039793 2039793 1 + A C rs62534884 2039789 + 2039769 2039809 41 AGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG AGCAGCAACAGCAGCAGCAGCAGCCGCAGCAGCAGCAGCAG < 41bp 0.792925343896435 0.395566810321043 0.3405552 0.3073465 prediction 0.58585068779287 Functional Loss - SMARCA2 ENSG00000080503 CDS Human protein_coding chr9:2039789 chr9:2039793 nonsynonymous SNV 0.908 0 25 hm5C_associated_SNPs_55729 2 Benign not specified RCV000114294.1
3875 chr9 2039793 2039793 1 + A C rs62534884 2039789 + 2039769 2039809 41 AGCAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG AGCAGCAACAGCAGCAGCAGCAGCCGCAGCAGCAGCAGCAG < 41bp 0.792925343896435 0.395566810321043 0.3405552 0.3073465 prediction 0.58585068779287 Functional Loss - SMARCA2 ENSG00000080503 CDS Human protein_coding chr9:2039789 chr9:2039793 nonsynonymous SNV 0.908 0 25 hm5C_associated_SNPs_55729 2 Benign Nicolaides-Baraitser syndrome RCV000351026.1
3875 chr17 37822438 37822438 1 + G T rs45506294 37822436 + 37822416 37822456 41 GCTAGGACTGTGGAGGGGAGCTGCTGGCCATGGCTGCTTTG GCTAGGACTGTGGAGGGGAGCTTCTGGCCATGGCTGCTTTG < 41bp 0.836886994179125 0.544110927569512 0.086455286 0.061218977 prediction 0.585552133219225 Functional Loss - TCAP ENSG00000173991 UTR3 Human protein_coding chr17:37822436 chr17:37822438 . . 0 23 hm5C_associated_SNPs_55751 3 Uncertain significance Limb-Girdle Muscular Dystrophy, Recessive RCV000298043.1
3875 chr17 37822438 37822438 1 + G T rs45506294 37822436 + 37822416 37822456 41 GCTAGGACTGTGGAGGGGAGCTGCTGGCCATGGCTGCTTTG GCTAGGACTGTGGAGGGGAGCTTCTGGCCATGGCTGCTTTG < 41bp 0.836886994179125 0.544110927569512 0.086455286 0.061218977 prediction 0.585552133219225 Functional Loss - TCAP ENSG00000173991 UTR3 Human protein_coding chr17:37822436 chr17:37822438 . . 0 23 hm5C_associated_SNPs_55751 3 Uncertain significance Hypertrophic cardiomyopathy RCV000369206.1
3875 chr17 37822438 37822438 1 + G T rs45506294 37822436 + 37822416 37822456 41 GCTAGGACTGTGGAGGGGAGCTGCTGGCCATGGCTGCTTTG GCTAGGACTGTGGAGGGGAGCTTCTGGCCATGGCTGCTTTG < 41bp 0.836886994179125 0.544110927569512 0.086455286 0.061218977 prediction 0.585552133219225 Functional Loss - TCAP ENSG00000173991 UTR3 Human protein_coding chr17:37822436 chr17:37822438 . . 0 23 hm5C_associated_SNPs_55751 3 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000399403.1
3875 chr3 30729974 30729974 1 + G T UCEC 30729972 + 30729952 30729992 41 GTTGAGAGATCGAGGGCGACCAGAAATTCCCAGCTTCTGGC GTTGAGAGATCGAGGGCGACCATAAATTCCCAGCTTCTGGC < 41bp 0.850970979988517 0.561153777416129 0.80177355 0.29362524 prediction 0.579634405144777 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30729972 chr3:30729974 stopgain 0.996 1 23 hm5C_associated_SNPs_56222 1 Likely pathogenic Loeys-Dietz syndrome RCV000037735.2
3875 chrX 11317052 11317052 1 + G T UCEC 11317049 + 11317029 11317069 41 CCATGCTTCCTGATCTGACTCTGGAAGCTTGGCCATCAACA CCATGCTTCCTGATCTGACTCTGTAAGCTTGGCCATCAACA < 41bp 0.889007124692861 0.599381624927835 0.21838233 0.058209956 prediction 0.579250999530052 Functional Loss - AMELX ENSG00000125363 CDS Human protein_coding chrX:11317049 chrX:11317052 stopgain 1.000 1 24 hm5C_associated_SNPs_56252 1 Pathogenic Amelogenesis imperfecta, type 1E RCV000011891.5
3875 chr17 61555453 61555453 1 + G T rs3729659 61555451 + 61555431 61555471 41 CCAACCTGCCCCTGGCTAAGCGGCAGCAGGTGGGCTGAGGG CCAACCTGCCCCTGGCTAAGCGTCAGCAGGTGGGCTGAGGG < 41bp 0.84761661371939 0.55899535469704 0.37853497 0.043555617 prediction 0.5772425180447 Functional Loss - ACE ENSG00000159640 CDS Human protein_coding chr17:61555451 chr17:61555453 synonymous SNV . 0 23 hm5C_associated_SNPs_56412 1 Uncertain significance Renal dysplasia RCV000304810.1
3875 chr5 161529607 161529607 1 + G T rs148215078 161529605 + 161529585 161529625 41 AATGTGCAGTGGTGTGATCTCGGCTCACTACAGCCTTCGCT AATGTGCAGTGGTGTGATCTCGTCTCACTACAGCCTTCGCT < 41bp 0.788537303175434 0.456480461953631 0.87185484 0.5243023 prediction 0.577074606350868 Functional Loss - GABRG2 ENSG00000113327 CDS Human protein_coding chr5:161529605 chr5:161529607 nonsynonymous SNV 0.002 0 23 hm5C_associated_SNPs_56424 1 Benign not specified RCV000125179.3
3875 chr17 73512653 73512653 1 + G T rs7216673 73512650 + 73512630 73512670 41 GGCGGCGGCGGGATGGAGCCCGAGCCCGAGCCCGCGGCCGT GGCGGCGGCGGGATGGAGCCCGATCCCGAGCCCGCGGCCGT < 41bp 0.877787080781383 0.589372045983326 0.59328544 0.3888729 prediction 0.576830069596113 Functional Loss - TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73512650 chr17:73512653 nonsynonymous SNV 0.132 0 24 hm5C_associated_SNPs_56451 2 Benign not specified RCV000082837.7
3875 chr17 73512653 73512653 1 + G T rs7216673 73512650 + 73512630 73512670 41 GGCGGCGGCGGGATGGAGCCCGAGCCCGAGCCCGCGGCCGT GGCGGCGGCGGGATGGAGCCCGATCCCGAGCCCGCGGCCGT < 41bp 0.877787080781383 0.589372045983326 0.59328544 0.3888729 prediction 0.576830069596113 Functional Loss - TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73512650 chr17:73512653 nonsynonymous SNV 0.132 0 24 hm5C_associated_SNPs_56451 2 Benign Pontoneocerebellar hypoplasia RCV000347176.1
3875 chr13 41383861 41383861 1 + G T rs17090557 41383858 + 41383838 41383878 41 TTGAGGACTACAGTTCATCTCAGGGTTTCTTGGAGTACAAG TTGAGGACTACAGTTCATCTCAGTGTTTCTTGGAGTACAAG < 41bp 0.78771421718814 0.411409586797322 0.9247583 0.103904635 prediction 0.57542843437628 Functional Loss - TPTE2P5 ENSG00000102743 UTR3 Human protein_coding chr13:41383858 chr13:41383861 . . 0 24 hm5C_associated_SNPs_56567 1 Uncertain significance Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000378209.1
3875 chr3 128621446 128621446 1 + G T rs549000613 128621443 + 128621423 128621463 41 CGGTTCAGCATGGGCAGCGTCGTGGCTGGGCTGCTCAAGAG CGGTTCAGCATGGGCAGCGTCGTTGCTGGGCTGCTCAAGAG < 41bp 0.786637734575419 0.392866358100596 0.39452243 0.10069239 prediction 0.573275469150837 Functional Loss - ACAD9 ENSG00000177646 CDS Human protein_coding chr3:128621443 chr3:128621446 synonymous SNV . 0 24 hm5C_associated_SNPs_56727 1 Likely benign not specified RCV000432721.1
3875 chr16 5127960 5127960 1 + G T rs145158686 5127957 + 5127937 5127977 41 CTTTCTTTAAAGAGACACCTCTGGACCTGCAGCACCGGCTC CTTTCTTTAAAGAGACACCTCTGTACCTGCAGCACCGGCTC < 41bp 0.90540435868088 0.619558141356916 0.7371426 0.3226717 prediction 0.571692434647927 Functional Loss - ALG1 ENSG00000033011 CDS Human protein_coding chr16:5127957 chr16:5127960 nonsynonymous SNV 0.271 1 24 hm5C_associated_SNPs_56869 1 Uncertain significance not specified RCV000386682.1
3875 chr18 48604749 48604749 1 + G T ESCA 48604747 + 48604727 48604767 41 AGCATCAAAGAAACACCTTGCTGGATTGAAATTCACTTACA AGCATCAAAGAAACACCTTGCTTGATTGAAATTCACTTACA < 41bp 0.78562409719762 0.495365274816226 0.317518 0.08061805 prediction 0.571248194395241 Functional Loss - SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48604747 chr18:48604749 nonsynonymous SNV 1.000 3 23 hm5C_associated_SNPs_56911 1 Pathogenic Juvenile polyposis syndrome RCV000021747.1
3875 chr1 156848946 156848946 1 + G T rs6339 156848943 + 156848923 156848963 41 ACCTGATGCCAAGCTGCTGGCTGGTGGGGAGGATGTGGCTC ACCTGATGCCAAGCTGCTGGCTGTTGGGGAGGATGTGGCTC < 41bp 0.782261562792499 0.390586496084443 0.7194083 0.4976831 prediction 0.564523125584998 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156848943 chr1:156848946 nonsynonymous SNV 0.755 2 24 hm5C_associated_SNPs_57525 4 Pathogenic Familial medullary thyroid carcinoma RCV000013101.17
3875 chr1 156848946 156848946 1 + G T rs6339 156848943 + 156848923 156848963 41 ACCTGATGCCAAGCTGCTGGCTGGTGGGGAGGATGTGGCTC ACCTGATGCCAAGCTGCTGGCTGTTGGGGAGGATGTGGCTC < 41bp 0.782261562792499 0.390586496084443 0.7194083 0.4976831 prediction 0.564523125584998 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156848943 chr1:156848946 nonsynonymous SNV 0.755 2 24 hm5C_associated_SNPs_57525 4 Pathogenic Hereditary insensitivity to pain with anhidrosis RCV000030667.24
3875 chr1 156848946 156848946 1 + G T rs6339 156848943 + 156848923 156848963 41 ACCTGATGCCAAGCTGCTGGCTGGTGGGGAGGATGTGGCTC ACCTGATGCCAAGCTGCTGGCTGTTGGGGAGGATGTGGCTC < 41bp 0.782261562792499 0.390586496084443 0.7194083 0.4976831 prediction 0.564523125584998 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156848943 chr1:156848946 nonsynonymous SNV 0.755 2 24 hm5C_associated_SNPs_57525 4 other Hereditary insensitivity to pain with anhidrosis RCV000031916.2
3875 chr1 156848946 156848946 1 + G T rs6339 156848943 + 156848923 156848963 41 ACCTGATGCCAAGCTGCTGGCTGGTGGGGAGGATGTGGCTC ACCTGATGCCAAGCTGCTGGCTGTTGGGGAGGATGTGGCTC < 41bp 0.782261562792499 0.390586496084443 0.7194083 0.4976831 prediction 0.564523125584998 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156848943 chr1:156848946 nonsynonymous SNV 0.755 2 24 hm5C_associated_SNPs_57525 4 Benign not specified RCV000127263.1
3875 chr9 137715300 137715300 1 + A C rs149959668 137715296 + 137715276 137715316 41 GAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGG GAAGGGTGAGGCAGGCCACCCAGGCCCCCCAGGCCCCCCGG < 41bp 0.782105963408113 0.416824345910957 0.9006474 0.7985556 prediction 0.564211926816225 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137715296 chr9:137715300 synonymous SNV . 0 25 hm5C_associated_SNPs_57541 4 Benign not specified RCV000124461.4
3875 chr9 137715300 137715300 1 + A C rs149959668 137715296 + 137715276 137715316 41 GAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGG GAAGGGTGAGGCAGGCCACCCAGGCCCCCCAGGCCCCCCGG < 41bp 0.782105963408113 0.416824345910957 0.9006474 0.7985556 prediction 0.564211926816225 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137715296 chr9:137715300 synonymous SNV . 0 25 hm5C_associated_SNPs_57541 4 Benign Thoracic aortic aneurysm and aortic dissection RCV000244499.1
3875 chr9 137715300 137715300 1 + A C rs149959668 137715296 + 137715276 137715316 41 GAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGG GAAGGGTGAGGCAGGCCACCCAGGCCCCCCAGGCCCCCCGG < 41bp 0.782105963408113 0.416824345910957 0.9006474 0.7985556 prediction 0.564211926816225 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137715296 chr9:137715300 synonymous SNV . 0 25 hm5C_associated_SNPs_57541 4 Likely benign Ehlers-Danlos syndrome, type 7A RCV000260729.1
3875 chr9 137715300 137715300 1 + A C rs149959668 137715296 + 137715276 137715316 41 GAAGGGTGAGGCAGGCCACCCAGGACCCCCAGGCCCCCCGG GAAGGGTGAGGCAGGCCACCCAGGCCCCCCAGGCCCCCCGG < 41bp 0.782105963408113 0.416824345910957 0.9006474 0.7985556 prediction 0.564211926816225 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137715296 chr9:137715300 synonymous SNV . 0 25 hm5C_associated_SNPs_57541 4 Benign Ehlers-Danlos syndrome, classic type RCV000459775.1
3875 chr22 50962103 50962103 1 + C G rs200605042 50962104 - 50962084 50962124 41 TTACTACGGCCGGAGCAGATCGGCTGAGCAGATCTCAGACA TTACTACGGCCGGAGCAGATCCGCTGAGCAGATCTCAGACA < 41bp 0.798576685594538 0.520105445263181 0.717072 0.3882298 prediction 0.556942480662712 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962104 chr22:50962103 synonymous SNV . 0 22 hm5C_associated_SNPs_58216 2 Uncertain significance Fatal Infantile Cardioencephalomyopathy RCV000285975.1
3875 chr22 50962103 50962103 1 + C G rs200605042 50962104 - 50962084 50962124 41 TTACTACGGCCGGAGCAGATCGGCTGAGCAGATCTCAGACA TTACTACGGCCGGAGCAGATCCGCTGAGCAGATCTCAGACA < 41bp 0.798576685594538 0.520105445263181 0.717072 0.3882298 prediction 0.556942480662712 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962104 chr22:50962103 synonymous SNV . 0 22 hm5C_associated_SNPs_58216 2 Uncertain significance Cytochrome-c oxidase deficiency RCV000336339.1
3875 chr2 74760496 74760496 1 + C A rs71640295 74760499 - 74760479 74760519 41 CCAGCACCGAGCAGAACAGACCAGAGCCCACCACACCACAA CCAGCACCGAGCAGAACAGACCATAGCCCACCACACCACAA < 41bp 0.77820495496246 0.404346053065773 0.21267766 0.04619381 prediction 0.55640990992492 Functional Loss - HTRA2;LOXL3 ENSG00000115318 UTR3 Human protein_coding chr2:74760499 chr2:74760496 . . 0 24 hm5C_associated_SNPs_58270 1 Likely benign Parkinson Disease, Dominant RCV000388231.1
3875 chr13 49039374 49039374 1 + C T CESC 49039372 + 49039352 49039392 41 GTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTC GTCACCAATACCTCACATTCCTTGAAGCCCTTACAAGTTTC < 41bp 0.797093517959416 0.519075383775323 0.5593939 0.087031275 prediction 0.556036268368185 Functional Loss - RB1 ENSG00000139687 CDS Human protein_coding chr13:49039372 chr13:49039374 stopgain 1.000 1 23 hm5C_associated_SNPs_58311 3 Pathogenic Retinoblastoma RCV000013948.3
3875 chr13 49039374 49039374 1 + C T CESC 49039372 + 49039352 49039392 41 GTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTC GTCACCAATACCTCACATTCCTTGAAGCCCTTACAAGTTTC < 41bp 0.797093517959416 0.519075383775323 0.5593939 0.087031275 prediction 0.556036268368185 Functional Loss - RB1 ENSG00000139687 CDS Human protein_coding chr13:49039372 chr13:49039374 stopgain 1.000 1 23 hm5C_associated_SNPs_58311 3 Pathogenic not provided RCV000078637.3
3875 chr13 49039374 49039374 1 + C T CESC 49039372 + 49039352 49039392 41 GTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTC GTCACCAATACCTCACATTCCTTGAAGCCCTTACAAGTTTC < 41bp 0.797093517959416 0.519075383775323 0.5593939 0.087031275 prediction 0.556036268368185 Functional Loss - RB1 ENSG00000139687 CDS Human protein_coding chr13:49039372 chr13:49039374 stopgain 1.000 1 23 hm5C_associated_SNPs_58311 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000492108.1
3875 chr18 31322918 31322918 1 + C T CESC 31322916 + 31322896 31322936 41 ACCAGTCTCCAAACCTGAGTCTCGAGCATCCACTAGCACAT ACCAGTCTCCAAACCTGAGTCTTGAGCATCCACTAGCACAT < 41bp 0.776749967677166 0.500361958549428 0.1498844 0.07931626 prediction 0.552776018255478 Functional Loss - ASXL3 ENSG00000141431 CDS Human protein_coding chr18:31322916 chr18:31322918 stopgain 0.260 0 23 hm5C_associated_SNPs_58605 1 Likely pathogenic not provided RCV000493532.1
3875 chr3 37070325 37070325 1 + G T LUSC 37070322 + 37070302 37070342 41 GGAAATGGTGGAAGATGATTCCCGAAAGGAAATGACTGCAG GGAAATGGTGGAAGATGATTCCCTAAAGGAAATGACTGCAG < 41bp 0.847161679495299 0.572077766919323 0.15869623 0.10781926 prediction 0.550167825151952 Functional Loss - MLH1 ENSG00000076242 CDS Human protein_coding chr3:37070322 chr3:37070325 nonsynonymous SNV 0.955 1 24 hm5C_associated_SNPs_58847 1 Uncertain significance Lynch syndrome RCV000466814.1
3875 chr4 88929246 88929246 1 + G T rs371898195 88929243 + 88929223 88929263 41 AGATGGACGTAGAGTGGCGCCCGGGCAGCCGGAGGTCGGCC AGATGGACGTAGAGTGGCGCCCGTGCAGCCGGAGGTCGGCC < 41bp 0.774951886549466 0.393376588208668 0.5523437 0.38954902 prediction 0.549903773098931 Functional Loss - PKD2 ENSG00000118762 CDS Human protein_coding chr4:88929243 chr4:88929246 nonsynonymous SNV 0.998 3 24 hm5C_associated_SNPs_58885 1 Uncertain significance not specified RCV000501803.1
3875 chr18 48591909 48591909 1 + G T LUAD 48591907 + 48591887 48591927 41 TGATGGATACGTGGACCCTTCTGGAGGAGATCGCTTTTGTT TGATGGATACGTGGACCCTTCTTGAGGAGATCGCTTTTGTT < 41bp 0.847658773278537 0.572905005957577 0.29544157 0.10508853 prediction 0.54950753464192 Functional Loss - SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48591907 chr18:48591909 stopgain 0.998 1 23 hm5C_associated_SNPs_58938 1 Pathogenic Carcinoma of pancreas RCV000009062.4
3875 chr5 256514 256514 1 + G C THCA 256513 + 256493 256533 41 GGCTGACTGTGCCACCGTCCCGCCAGCCATTCGCTCCTACT GGCTGACTGTGCCACCGTCCCCCCAGCCATTCGCTCCTACT < 41bp 0.818473258624184 0.544312394664949 0.17957914 0.119767725 prediction 0.54832172791847 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:256513 chr5:256514 synonymous SNV . 0 22 hm5C_associated_SNPs_59049 3 Likely benign Mitochondrial complex II deficiency RCV000239372.2
3875 chr5 256514 256514 1 + G C THCA 256513 + 256493 256533 41 GGCTGACTGTGCCACCGTCCCGCCAGCCATTCGCTCCTACT GGCTGACTGTGCCACCGTCCCCCCAGCCATTCGCTCCTACT < 41bp 0.818473258624184 0.544312394664949 0.17957914 0.119767725 prediction 0.54832172791847 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:256513 chr5:256514 synonymous SNV . 0 22 hm5C_associated_SNPs_59049 3 Likely benign Paragangliomas 5 RCV000239372.2
3875 chr5 256514 256514 1 + G C THCA 256513 + 256493 256533 41 GGCTGACTGTGCCACCGTCCCGCCAGCCATTCGCTCCTACT GGCTGACTGTGCCACCGTCCCCCCAGCCATTCGCTCCTACT < 41bp 0.818473258624184 0.544312394664949 0.17957914 0.119767725 prediction 0.54832172791847 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:256513 chr5:256514 synonymous SNV . 0 22 hm5C_associated_SNPs_59049 3 Likely benign not specified RCV000427231.1
3875 chr22 18572700 18572700 1 + A C rs146739242 18572696 + 18572676 18572716 41 GCCGGGATGGTCTCGATCTCCTGAACTTGTGATCCACCCAC GCCGGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCAC < 41bp 0.774127162953733 0.413926557673952 0.25306246 0.124580026 prediction 0.548254325907465 Functional Loss - PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572696 chr22:18572700 . . 0 25 hm5C_associated_SNPs_59050 1 Likely benign Zellweger syndrome RCV000327867.1
3875 chr8 11421709 11421709 1 + G C rs14053 11421708 + 11421688 11421728 41 GGGCCGCGAAGGCGGGGTGTCGCCTGTGCCCTTTTCTCAGA GGGCCGCGAAGGCGGGGTGTCCCCTGTGCCCTTTTCTCAGA < 41bp 0.818477869294455 0.544783457494074 0.15111494 0.060830474 prediction 0.547388823600761 Functional Loss - BLK ENSG00000136573 UTR3 Human protein_coding chr8:11421708 chr8:11421709 . . 0 22 hm5C_associated_SNPs_59153 1 Likely benign Maturity-onset diabetes of the young RCV000364672.1
3875 chrX 40440283 40440283 1 + G C rs111632930 40440282 + 40440262 40440302 41 CGTGTCCCGCCGGCCCGTTCCGTGTCGCCCCGCAGTGCTGC CGTGTCCCGCCGGCCCGTTCCCTGTCGCCCCGCAGTGCTGC < 41bp 0.773577397993055 0.488550156344442 0.17520678 0.025587678 prediction 0.54715479598611 Functional Loss - ATP6AP2 ENSG00000182220 CDS Human protein_coding chrX:40440282 chrX:40440283 nonsynonymous SNV 0.040 0 22 hm5C_associated_SNPs_59178 1 Benign not specified RCV000123780.2
3875 chr11 108018716 108018716 1 + A C rs2280332 108018712 + 108018692 108018732 41 GGGAGGTCAAGCAGAAAACCCTGGAGTTTGGGCTCTGAATT GGGAGGTCAAGCAGAAAACCCTGGCGTTTGGGCTCTGAATT < 41bp 0.773400027573215 0.427677173138325 0.4059609 0.5046358 prediction 0.54680005514643 Functional Loss - ACAT1 ENSG00000075239 downstream Human protein_coding chr11:108018712 chr11:108018716 . . 0 25 hm5C_associated_SNPs_59222 1 Benign Deficiency of acetyl-CoA acetyltransferase RCV000348219.1
3875 chr17 37872035 37872035 1 + G T rs4252633 37872032 + 37872012 37872052 41 CTGCAAGGGCTGGGCATCAGCTGGCTGGGGCTGCGCTCACT CTGCAAGGGCTGGGCATCAGCTGTCTGGGGCTGCGCTCACT < 41bp 0.7714297419189 0.378446473663889 0.7091031 0.3177763 prediction 0.5428594838378 Functional Loss - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37872032 chr17:37872035 nonsynonymous SNV 0.993 2 24 hm5C_associated_SNPs_59623 1 not provided not specified RCV000120741.1
3875 chr20 34022085 34022085 1 + C A rs138130158 34022087 - 34022067 34022107 41 TGTATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGCC TGTATGAGTACCTGTTCAGCCATCGGCGAAAACGGCGGGCC < 41bp 0.87183474814774 0.600645280921808 0.87739074 0.49578035 prediction 0.542378934451864 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022087 chr20:34022085 nonsynonymous SNV 1.000 1 23 hm5C_associated_SNPs_59685 5 Likely benign Fibular hypoplasia and complex brachydactyly RCV000287012.1
3875 chr20 34022085 34022085 1 + C A rs138130158 34022087 - 34022067 34022107 41 TGTATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGCC TGTATGAGTACCTGTTCAGCCATCGGCGAAAACGGCGGGCC < 41bp 0.87183474814774 0.600645280921808 0.87739074 0.49578035 prediction 0.542378934451864 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022087 chr20:34022085 nonsynonymous SNV 1.000 1 23 hm5C_associated_SNPs_59685 5 Likely benign Symphalangism-brachydactyly syndrome RCV000308986.1
3875 chr20 34022085 34022085 1 + C A rs138130158 34022087 - 34022067 34022107 41 TGTATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGCC TGTATGAGTACCTGTTCAGCCATCGGCGAAAACGGCGGGCC < 41bp 0.87183474814774 0.600645280921808 0.87739074 0.49578035 prediction 0.542378934451864 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022087 chr20:34022085 nonsynonymous SNV 1.000 1 23 hm5C_associated_SNPs_59685 5 Likely benign Brachydactyly RCV000339302.1
3875 chr20 34022085 34022085 1 + C A rs138130158 34022087 - 34022067 34022107 41 TGTATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGCC TGTATGAGTACCTGTTCAGCCATCGGCGAAAACGGCGGGCC < 41bp 0.87183474814774 0.600645280921808 0.87739074 0.49578035 prediction 0.542378934451864 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022087 chr20:34022085 nonsynonymous SNV 1.000 1 23 hm5C_associated_SNPs_59685 5 Likely benign Acromesomelic Dysplasia RCV000347449.1
3875 chr20 34022085 34022085 1 + C A rs138130158 34022087 - 34022067 34022107 41 TGTATGAGTACCTGTTCAGCCAGCGGCGAAAACGGCGGGCC TGTATGAGTACCTGTTCAGCCATCGGCGAAAACGGCGGGCC < 41bp 0.87183474814774 0.600645280921808 0.87739074 0.49578035 prediction 0.542378934451864 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022087 chr20:34022085 nonsynonymous SNV 1.000 1 23 hm5C_associated_SNPs_59685 5 Likely benign Chondrodysplasia RCV000407710.1
3875 chr3 14172381 14172381 1 + C T rs34099410 14172379 + 14172359 14172399 41 GGCTCTCGCTTGTGGTGTCTCCCGACAGCATCCACAGTGTG GGCTCTCGCTTGTGGTGTCTCCTGACAGCATCCACAGTGTG < 41bp 0.773966222103046 0.503331252870221 0.15574938 0.16790521 prediction 0.54126993846565 Functional Loss - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14172379 chr3:14172381 synonymous SNV . 0 23 hm5C_associated_SNPs_59804 4 other not specified RCV000039380.6
3875 chr3 14172381 14172381 1 + C T rs34099410 14172379 + 14172359 14172399 41 GGCTCTCGCTTGTGGTGTCTCCCGACAGCATCCACAGTGTG GGCTCTCGCTTGTGGTGTCTCCTGACAGCATCCACAGTGTG < 41bp 0.773966222103046 0.503331252870221 0.15574938 0.16790521 prediction 0.54126993846565 Functional Loss - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14172379 chr3:14172381 synonymous SNV . 0 23 hm5C_associated_SNPs_59804 4 Benign Arrhythmogenic right ventricular cardiomyopathy, type 5 RCV000204535.3
3875 chr3 14172381 14172381 1 + C T rs34099410 14172379 + 14172359 14172399 41 GGCTCTCGCTTGTGGTGTCTCCCGACAGCATCCACAGTGTG GGCTCTCGCTTGTGGTGTCTCCTGACAGCATCCACAGTGTG < 41bp 0.773966222103046 0.503331252870221 0.15574938 0.16790521 prediction 0.54126993846565 Functional Loss - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14172379 chr3:14172381 synonymous SNV . 0 23 hm5C_associated_SNPs_59804 4 Benign Cardiovascular phenotype RCV000241696.1
3875 chr3 14172381 14172381 1 + C T rs34099410 14172379 + 14172359 14172399 41 GGCTCTCGCTTGTGGTGTCTCCCGACAGCATCCACAGTGTG GGCTCTCGCTTGTGGTGTCTCCTGACAGCATCCACAGTGTG < 41bp 0.773966222103046 0.503331252870221 0.15574938 0.16790521 prediction 0.54126993846565 Functional Loss - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14172379 chr3:14172381 synonymous SNV . 0 23 hm5C_associated_SNPs_59804 4 Uncertain significance Cardiomyopathy, ARVC RCV000333595.1
3875 chr2 44502788 44502788 1 + A C rs3738985 44502784 + 44502764 44502804 41 TCTGGAGCAGACCCCGGATCCAGGAAGCTCAACAGACAACC TCTGGAGCAGACCCCGGATCCAGGCAGCTCAACAGACAACC < 41bp 0.903916570941274 0.633674191703483 0.8435588 0.7527924 prediction 0.540484758475582 Functional Loss - SLC3A1 ENSG00000138079 CDS Human protein_coding chr2:44502784 chr2:44502788 synonymous SNV . 0 25 hm5C_associated_SNPs_59892 1 Benign Cystinuria RCV000336500.1
3875 chr22 50962167 50962167 1 + G A SKCM 50962169 - 50962149 50962189 41 CAGGACTACATCGTGGACCACTCCATTGCCATCTACCTGCT CAGGACTACATCGTGGACCACTTCATTGCCATCTACCTGCT < 41bp 0.76950237060417 0.499398096049193 0.97096694 0.8596134 prediction 0.539004741208341 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962169 chr22:50962167 nonsynonymous SNV 1.000 4 23 hm5C_associated_SNPs_60053 1 Pathogenic Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency RCV000006033.2
3875 chr17 78024046 78024046 1 + A C rs61734951 78024042 + 78024022 78024062 41 CAGGCCGCCCGCGCTCTCTACACCAAGACCTGCGCAGCCGC CAGGCCGCCCGCGCTCTCTACACCCAGACCTGCGCAGCCGC < 41bp 0.768649602864113 0.336182617364885 0.20296645 0.15601823 prediction 0.537299205728226 Functional Loss - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78024042 chr17:78024046 nonsynonymous SNV 0.002 0 25 hm5C_associated_SNPs_60223 2 other Primary ciliary dyskinesia RCV000231612.3
3875 chr17 78024046 78024046 1 + A C rs61734951 78024042 + 78024022 78024062 41 CAGGCCGCCCGCGCTCTCTACACCAAGACCTGCGCAGCCGC CAGGCCGCCCGCGCTCTCTACACCCAGACCTGCGCAGCCGC < 41bp 0.768649602864113 0.336182617364885 0.20296645 0.15601823 prediction 0.537299205728226 Functional Loss - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78024042 chr17:78024046 nonsynonymous SNV 0.002 0 25 hm5C_associated_SNPs_60223 2 Benign not specified RCV000244324.1
3875 chr10 43609994 43609994 1 + C T UCEC 43609992 + 43609972 43610012 41 GTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTT GTCCTCTTCTCCTTCATCGTCTTGGTGCTGCTGTCTGCCTT < 41bp 0.768279677935971 0.493104118859858 0.12376264 0.19631547 prediction 0.536559355871941 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609992 chr10:43609994 nonsynonymous SNV 0.897 4 23 hm5C_associated_SNPs_60297 6 Uncertain significance MEN2 phenotype: Unknown RCV000021835.1
3875 chr10 43609994 43609994 1 + C T UCEC 43609992 + 43609972 43610012 41 GTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTT GTCCTCTTCTCCTTCATCGTCTTGGTGCTGCTGTCTGCCTT < 41bp 0.768279677935971 0.493104118859858 0.12376264 0.19631547 prediction 0.536559355871941 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609992 chr10:43609994 nonsynonymous SNV 0.897 4 23 hm5C_associated_SNPs_60297 6 other not specified RCV000121978.2
3875 chr10 43609994 43609994 1 + C T UCEC 43609992 + 43609972 43610012 41 GTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTT GTCCTCTTCTCCTTCATCGTCTTGGTGCTGCTGTCTGCCTT < 41bp 0.768279677935971 0.493104118859858 0.12376264 0.19631547 prediction 0.536559355871941 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609992 chr10:43609994 nonsynonymous SNV 0.897 4 23 hm5C_associated_SNPs_60297 6 Likely benign Multiple endocrine neoplasia, type 2 RCV000123304.5
3875 chr10 43609994 43609994 1 + C T UCEC 43609992 + 43609972 43610012 41 GTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTT GTCCTCTTCTCCTTCATCGTCTTGGTGCTGCTGTCTGCCTT < 41bp 0.768279677935971 0.493104118859858 0.12376264 0.19631547 prediction 0.536559355871941 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609992 chr10:43609994 nonsynonymous SNV 0.897 4 23 hm5C_associated_SNPs_60297 6 Likely benign Elevated basal serum calcitonin RCV000148770.1
3875 chr10 43609994 43609994 1 + C T UCEC 43609992 + 43609972 43610012 41 GTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTT GTCCTCTTCTCCTTCATCGTCTTGGTGCTGCTGTCTGCCTT < 41bp 0.768279677935971 0.493104118859858 0.12376264 0.19631547 prediction 0.536559355871941 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609992 chr10:43609994 nonsynonymous SNV 0.897 4 23 hm5C_associated_SNPs_60297 6 Uncertain significance Hereditary cancer-predisposing syndrome RCV000163375.2
3875 chr10 43609994 43609994 1 + C T UCEC 43609992 + 43609972 43610012 41 GTCCTCTTCTCCTTCATCGTCTCGGTGCTGCTGTCTGCCTT GTCCTCTTCTCCTTCATCGTCTTGGTGCTGCTGTCTGCCTT < 41bp 0.768279677935971 0.493104118859858 0.12376264 0.19631547 prediction 0.536559355871941 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609992 chr10:43609994 nonsynonymous SNV 0.897 4 23 hm5C_associated_SNPs_60297 6 Benign not provided RCV000224141.1
3875 chr2 128180872 128180872 1 + G T rs5936 128180869 + 128180849 128180889 41 GAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTG GAGGTGAGCTTCCTCAATTGCTCTCTGGACAACGGCGGCTG < 41bp 0.767933559796205 0.377188608210657 0.32301736 0.24469233 prediction 0.53586711959241 Functional Loss - PROC ENSG00000115718 CDS Human protein_coding chr2:128180869 chr2:128180872 synonymous SNV . 0 24 hm5C_associated_SNPs_60383 2 Benign not specified RCV000251026.1
3875 chr2 128180872 128180872 1 + G T rs5936 128180869 + 128180849 128180889 41 GAGGTGAGCTTCCTCAATTGCTCGCTGGACAACGGCGGCTG GAGGTGAGCTTCCTCAATTGCTCTCTGGACAACGGCGGCTG < 41bp 0.767933559796205 0.377188608210657 0.32301736 0.24469233 prediction 0.53586711959241 Functional Loss - PROC ENSG00000115718 CDS Human protein_coding chr2:128180869 chr2:128180872 synonymous SNV . 0 24 hm5C_associated_SNPs_60383 2 Likely benign Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant RCV000328858.1
3875 chr17 78039309 78039309 1 + G T rs61739354 78039307 + 78039287 78039327 41 TGCACCGAGATCGACGCCATCAGCGTGGAGAAGAGGCGCAT TGCACCGAGATCGACGCCATCATCGTGGAGAAGAGGCGCAT < 41bp 0.767706506361891 0.413952166979999 0.85572135 0.27595943 prediction 0.535413012723782 Functional Loss - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78039307 chr17:78039309 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_60431 2 Benign not specified RCV000217460.2
3875 chr17 78039309 78039309 1 + G T rs61739354 78039307 + 78039287 78039327 41 TGCACCGAGATCGACGCCATCAGCGTGGAGAAGAGGCGCAT TGCACCGAGATCGACGCCATCATCGTGGAGAAGAGGCGCAT < 41bp 0.767706506361891 0.413952166979999 0.85572135 0.27595943 prediction 0.535413012723782 Functional Loss - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78039307 chr17:78039309 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_60431 2 other Primary ciliary dyskinesia RCV000226307.3
3875 chr5 7878394 7878394 1 + C T rs114053717 7878392 + 7878372 7878412 41 TCTGAATATTCCTGGTTTACCCCCAGAATATTTACAGGTAC TCTGAATATTCCTGGTTTACCCTCAGAATATTTACAGGTAC < 41bp 0.766623851076525 0.497416736462132 0.12942484 0.13040534 prediction 0.53324770215305 Functional Loss - MTRR ENSG00000124275 CDS Human protein_coding chr5:7878392 chr5:7878394 nonsynonymous SNV 0.185 0 23 hm5C_associated_SNPs_60670 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000358385.1
3875 chr5 145719827 145719827 1 + G T rs6885298 145719824 + 145719804 145719844 41 AGCGAACGGAAGCGCAAACGCACGTCCATCGCGGCGCCGGA AGCGAACGGAAGCGCAAACGCACTTCCATCGCGGCGCCGGA < 41bp 0.766484612791487 0.367624974364306 0.18013468 0.11393607 prediction 0.532969225582973 Functional Loss - POU4F3 ENSG00000091010 CDS Human protein_coding chr5:145719824 chr5:145719827 synonymous SNV . 0 24 hm5C_associated_SNPs_60698 2 Benign not specified RCV000037581.2
3875 chr5 145719827 145719827 1 + G T rs6885298 145719824 + 145719804 145719844 41 AGCGAACGGAAGCGCAAACGCACGTCCATCGCGGCGCCGGA AGCGAACGGAAGCGCAAACGCACTTCCATCGCGGCGCCGGA < 41bp 0.766484612791487 0.367624974364306 0.18013468 0.11393607 prediction 0.532969225582973 Functional Loss - POU4F3 ENSG00000091010 CDS Human protein_coding chr5:145719824 chr5:145719827 synonymous SNV . 0 24 hm5C_associated_SNPs_60698 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000349659.1
3875 chr12 58145431 58145431 1 + G T SKCM 58145428 + 58145408 58145448 41 AAAGTGGCCACTGTGGGGATCACGGGCCTTGTACACTGTCC AAAGTGGCCACTGTGGGGATCACTGGCCTTGTACACTGTCC < 41bp 0.766100458500913 0.400548238820264 0.87865806 0.29210088 prediction 0.532200917001826 Functional Loss - CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145428 chr12:58145431 nonsynonymous SNV 0.998 3 24 hm5C_associated_SNPs_60791 3 Likely pathogenic Malignant melanoma of skin RCV000419745.1
3875 chr12 58145431 58145431 1 + G T SKCM 58145428 + 58145408 58145448 41 AAAGTGGCCACTGTGGGGATCACGGGCCTTGTACACTGTCC AAAGTGGCCACTGTGGGGATCACTGGCCTTGTACACTGTCC < 41bp 0.766100458500913 0.400548238820264 0.87865806 0.29210088 prediction 0.532200917001826 Functional Loss - CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145428 chr12:58145431 nonsynonymous SNV 0.998 3 24 hm5C_associated_SNPs_60791 3 Likely pathogenic Multiple myeloma RCV000429137.1
3875 chr12 58145431 58145431 1 + G T SKCM 58145428 + 58145408 58145448 41 AAAGTGGCCACTGTGGGGATCACGGGCCTTGTACACTGTCC AAAGTGGCCACTGTGGGGATCACTGGCCTTGTACACTGTCC < 41bp 0.766100458500913 0.400548238820264 0.87865806 0.29210088 prediction 0.532200917001826 Functional Loss - CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145428 chr12:58145431 nonsynonymous SNV 0.998 3 24 hm5C_associated_SNPs_60791 3 Likely pathogenic Adenocarcinoma of lung RCV000437447.1
3875 chr16 4383398 4383398 1 + G T rs72766563 4383396 + 4383376 4383416 41 GAAGGTGGAGGGACGCTTTTCAGCAGCCCCTCTCGTGGACC GAAGGTGGAGGGACGCTTTTCATCAGCCCCTCTCGTGGACC < 41bp 0.874966500960851 0.609699275827987 0.65520084 0.16792434 prediction 0.53053445026573 Functional Loss - GLIS2 ENSG00000126603 CDS Human protein_coding chr16:4383396 chr16:4383398 nonsynonymous SNV 0.974 0 23 hm5C_associated_SNPs_60989 2 Benign not specified RCV000249945.1
3875 chr16 4383398 4383398 1 + G T rs72766563 4383396 + 4383376 4383416 41 GAAGGTGGAGGGACGCTTTTCAGCAGCCCCTCTCGTGGACC GAAGGTGGAGGGACGCTTTTCATCAGCCCCTCTCGTGGACC < 41bp 0.874966500960851 0.609699275827987 0.65520084 0.16792434 prediction 0.53053445026573 Functional Loss - GLIS2 ENSG00000126603 CDS Human protein_coding chr16:4383396 chr16:4383398 nonsynonymous SNV 0.974 0 23 hm5C_associated_SNPs_60989 2 Likely benign Nephronophthisis RCV000361665.1
3875 chr8 38884270 38884270 1 + C T rs61753674 38884268 + 38884248 38884288 41 GTCATAATCTTGGAATGAATCACGATGATGGGAGAGATTGT GTCATAATCTTGGAATGAATCATGATGATGGGAGAGATTGT < 41bp 0.811803055957075 0.546558736892375 0.2513063 0.20368972 prediction 0.530488638129401 Functional Loss - ADAM9 ENSG00000168615 CDS Human protein_coding chr8:38884268 chr8:38884270 synonymous SNV . 0 23 hm5C_associated_SNPs_60995 1 Likely benign not specified RCV000250247.1
3875 chr12 9013783 9013783 1 + C T rs7959680 9013781 + 9013761 9013801 41 CTCAAGAATTCGGCCACCTCCACGACCAACCTCTACACACA CTCAAGAATTCGGCCACCTCCATGACCAACCTCTACACACA < 41bp 0.781918439445426 0.5168111673778 0.10436994 0.105636925 prediction 0.530214544135253 Functional Loss - A2ML1 ENSG00000166535 CDS Human protein_coding chr12:9013781 chr12:9013783 nonsynonymous SNV 0.047 1 23 hm5C_associated_SNPs_61016 1 Benign not specified RCV000231779.2
3875 chr16 21964713 21964713 1 + G T rs201397873 21964711 + 21964691 21964731 41 CATCTTGCTTTCCTTTAATCCGGCAGTGACCGTGTGTCAGA CATCTTGCTTTCCTTTAATCCGTCAGTGACCGTGTGTCAGA < 41bp 0.843670059395996 0.578703578431188 0.30844074 0.07223442 prediction 0.529932961929614 Functional Loss - UQCRC2 ENSG00000140740 UTR5 Human protein_coding chr16:21964711 chr16:21964713 . . 0 23 hm5C_associated_SNPs_61040 1 Benign not specified RCV000420465.1
3875 chr9 108397407 108397407 1 + C T STAD 108397405 + 108397385 108397425 41 TCCATGTACCCTGTGAAACCCTCGAATACATTGAAGCCAAC TCCATGTACCCTGTGAAACCCTTGAATACATTGAAGCCAAC < 41bp 0.793529805072636 0.530306392981747 0.9397265 0.16897115 prediction 0.526446824181778 Functional Loss - FKTN ENSG00000106692 CDS Human protein_coding chr9:108397405 chr9:108397407 synonymous SNV . 0 23 hm5C_associated_SNPs_61443 1 Likely benign not specified RCV000431996.1
3875 chr3 43762348 43762348 1 + G T rs17075919 43762345 + 43762325 43762365 41 GCCGCCATACATGGCTTTACCTGGGTCCATGCATTCCCTTA GCCGCCATACATGGCTTTACCTGTGTCCATGCATTCCCTTA < 41bp 0.869887858523435 0.607089514514374 0.7573118 0.1450549 prediction 0.525596688018122 Functional Loss - ABHD5 ENSG00000011198;ENSG00000235886 intergenic Human other chr3:43762345 chr3:43762348 . . 0 24 hm5C_associated_SNPs_61549 1 Likely benign Triglyceride storage disease with ichthyosis RCV000298873.1
3875 chr11 124735354 124735354 1 + G C rs185584218 124735353 + 124735333 124735373 41 CAGGCGCACCGGCAGGAGAGCGGCACCGTGGCTGCCGCAGC CAGGCGCACCGGCAGGAGAGCCGCACCGTGGCTGCCGCAGC < 41bp 0.80706611876905 0.544368165044404 0.782544 0.357765 prediction 0.525395907449293 Functional Loss - ROBO3 ENSG00000154134 UTR5 Human protein_coding chr11:124735353 chr11:124735354 . . 0 22 hm5C_associated_SNPs_61572 1 Uncertain significance Gaze palsy, familial horizontal, with progressive scoliosis RCV000397385.1
3875 chrX 149828946 149828946 1 + C T UCEC 149828944 + 149828924 149828964 41 CTTATTCAACTGTGAATCTGCTCGAGAAAGACAGGTGAGTT CTTATTCAACTGTGAATCTGCTTGAGAAAGACAGGTGAGTT < 41bp 0.762451096610481 0.488142403142735 0.20600474 0.15704128 prediction 0.524902193220963 Functional Loss - MTM1 ENSG00000171100 CDS Human protein_coding chrX:149828944 chrX:149828946 stopgain 1.000 1 23 hm5C_associated_SNPs_61626 1 Pathogenic Severe X-linked myotubular myopathy RCV000146417.1
3875 chr2 48026605 48026605 1 + C T ACC 48026603 + 48026583 48026623 41 GACTCCAGAAATGATGGAGGCACGATGTAGAAAGATGGCAC GACTCCAGAAATGATGGAGGCATGATGTAGAAAGATGGCAC < 41bp 0.794587861891892 0.532790454975781 0.13526556 0.19526687 prediction 0.523594813832223 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026603 chr2:48026605 stopgain 0.996 1 23 hm5C_associated_SNPs_61789 3 Pathogenic Lynch syndrome RCV000074659.2
3875 chr2 48026605 48026605 1 + C T ACC 48026603 + 48026583 48026623 41 GACTCCAGAAATGATGGAGGCACGATGTAGAAAGATGGCAC GACTCCAGAAATGATGGAGGCATGATGTAGAAAGATGGCAC < 41bp 0.794587861891892 0.532790454975781 0.13526556 0.19526687 prediction 0.523594813832223 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026603 chr2:48026605 stopgain 0.996 1 23 hm5C_associated_SNPs_61789 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000131420.4
3875 chr2 48026605 48026605 1 + C T ACC 48026603 + 48026583 48026623 41 GACTCCAGAAATGATGGAGGCACGATGTAGAAAGATGGCAC GACTCCAGAAATGATGGAGGCATGATGTAGAAAGATGGCAC < 41bp 0.794587861891892 0.532790454975781 0.13526556 0.19526687 prediction 0.523594813832223 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026603 chr2:48026605 stopgain 0.996 1 23 hm5C_associated_SNPs_61789 3 other not provided RCV000202276.3
3875 chr8 6264130 6264130 1 + G C rs2305023 6264126 + 6264106 6264146 41 ACCCCGCGCATGCCCAGTGCCCGCGCGCGCCGCCAGGCTCG ACCCCGCGCATGCCCAGTGCCCGCCCGCGCCGCCAGGCTCG < 41bp 0.761768658353943 0.487932314072635 0.39818814 0.23953807 prediction 0.523537316707886 Functional Loss - MCPH1 ENSG00000246089 ncRNA_exonic Human antisense chr8:6264126 chr8:6264130 . . 0 25 hm5C_associated_SNPs_61796 1 Benign Primary Microcephaly, Recessive RCV000365880.1
3875 chr1 53676198 53676198 1 + C T UCEC 53676196 + 53676176 53676216 41 TCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATAC TCTCAGACAGCAGCCCCGCCCCTGAGTTTCCCCTGGCATAC < 41bp 0.80133074612437 0.540080844990544 0.18537518 0.09853423 prediction 0.522499802267651 Functional Loss - CPT2 ENSG00000157184 CDS Human protein_coding chr1:53676196 chr1:53676198 synonymous SNV . 0 23 hm5C_associated_SNPs_61924 1 Uncertain significance Carnitine palmitoyltransferase II deficiency RCV000404930.1
3875 chr17 37864584 37864584 1 + A C rs61737968 37864580 + 37864560 37864600 41 CTTCCCCCTCCCAGGATATCCAGGAGGTGCAGGGCTACGTG CTTCCCCCTCCCAGGATATCCAGGCGGTGCAGGGCTACGTG < 41bp 0.79241578125374 0.531234233299666 0.9282954 0.9339242 prediction 0.522363095908149 Functional Loss - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37864580 chr17:37864584 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_61940 1 not provided not specified RCV000120758.1
3875 chr8 75263639 75263639 1 + G C LUAD 75263635 + 75263615 75263655 41 GAGAAGTGCCTGTCCTTATCCACGGGGAAAACATAATTTGT GAGAAGTGCCTGTCCTTATCCACGCGGAAAACATAATTTGT < 41bp 0.776780446041231 0.515630337722267 0.68092155 0.43987864 prediction 0.522300216637928 Functional Loss - GDAP1 ENSG00000104381 CDS Human protein_coding chr8:75263635 chr8:75263639 nonsynonymous SNV 1.000 0 25 hm5C_associated_SNPs_61952 2 Benign not provided RCV000143823.1
3875 chr8 75263639 75263639 1 + G C LUAD 75263635 + 75263615 75263655 41 GAGAAGTGCCTGTCCTTATCCACGGGGAAAACATAATTTGT GAGAAGTGCCTGTCCTTATCCACGCGGAAAACATAATTTGT < 41bp 0.776780446041231 0.515630337722267 0.68092155 0.43987864 prediction 0.522300216637928 Functional Loss - GDAP1 ENSG00000104381 CDS Human protein_coding chr8:75263635 chr8:75263639 nonsynonymous SNV 1.000 0 25 hm5C_associated_SNPs_61952 2 Uncertain significance not specified RCV000235853.1
3875 chr12 9009912 9009912 1 + C T LUAD 9009910 + 9009890 9009930 41 GCTGACGGAGGAGATCAGGTCTCGGGCAGTGGGTTTCCTGG GCTGACGGAGGAGATCAGGTCTTGGGCAGTGGGTTTCCTGG < 41bp 0.77649753525981 0.515365822493171 0.48002797 0.431296 prediction 0.522263425533277 Functional Loss - A2ML1 ENSG00000166535 CDS Human protein_coding chr12:9009910 chr12:9009912 nonsynonymous SNV 0.544 2 23 hm5C_associated_SNPs_61955 1 Uncertain significance Nonsyndromic otitis media RCV000201240.1
3875 chr2 48026014 48026014 1 + C T CESC 48026012 + 48025992 48026032 41 GAACAGCCCTGTCAAAGTTGCTCGAAAGCGGAAGAGAATGG GAACAGCCCTGTCAAAGTTGCTTGAAAGCGGAAGAGAATGG < 41bp 0.76106941569388 0.477822435540989 0.30146283 0.15690815 prediction 0.522138831387761 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026012 chr2:48026014 stopgain 0.601 0 23 hm5C_associated_SNPs_61978 3 Pathogenic Lynch syndrome RCV000075043.2
3875 chr2 48026014 48026014 1 + C T CESC 48026012 + 48025992 48026032 41 GAACAGCCCTGTCAAAGTTGCTCGAAAGCGGAAGAGAATGG GAACAGCCCTGTCAAAGTTGCTTGAAAGCGGAAGAGAATGG < 41bp 0.76106941569388 0.477822435540989 0.30146283 0.15690815 prediction 0.522138831387761 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026012 chr2:48026014 stopgain 0.601 0 23 hm5C_associated_SNPs_61978 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000130865.5
3875 chr2 48026014 48026014 1 + C T CESC 48026012 + 48025992 48026032 41 GAACAGCCCTGTCAAAGTTGCTCGAAAGCGGAAGAGAATGG GAACAGCCCTGTCAAAGTTGCTTGAAAGCGGAAGAGAATGG < 41bp 0.76106941569388 0.477822435540989 0.30146283 0.15690815 prediction 0.522138831387761 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026012 chr2:48026014 stopgain 0.601 0 23 hm5C_associated_SNPs_61978 3 Pathogenic not provided RCV000149892.2
3875 chr8 75277775 75277775 1 + G T rs72665430 75277773 + 75277753 75277793 41 GGAAGACAGTTTCCCTGGAGCTGGCCATGAAGGCCTTAGAA GGAAGACAGTTTCCCTGGAGCTTGCCATGAAGGCCTTAGAA < 41bp 0.761059055170649 0.451519399648255 0.45205468 0.29902887 prediction 0.522118110341297 Functional Loss - GDAP1 ENSG00000104381 UTR3 Human protein_coding chr8:75277773 chr8:75277775 . . 0 23 hm5C_associated_SNPs_61980 2 Likely benign Charcot-Marie-Tooth with Vocal Cord Paresis RCV000259272.1
3875 chr8 75277775 75277775 1 + G T rs72665430 75277773 + 75277753 75277793 41 GGAAGACAGTTTCCCTGGAGCTGGCCATGAAGGCCTTAGAA GGAAGACAGTTTCCCTGGAGCTTGCCATGAAGGCCTTAGAA < 41bp 0.761059055170649 0.451519399648255 0.45205468 0.29902887 prediction 0.522118110341297 Functional Loss - GDAP1 ENSG00000104381 UTR3 Human protein_coding chr8:75277773 chr8:75277775 . . 0 23 hm5C_associated_SNPs_61980 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000355071.1
3875 chr7 117232511 117232511 1 + C T STAD 117232509 + 117232489 117232529 41 CACTGGCCCCACGCTTCAGGCACGAAGGAGGCAGTCTGTCC CACTGGCCCCACGCTTCAGGCATGAAGGAGGCAGTCTGTCC < 41bp 0.794359249966569 0.533585563862946 0.117388815 0.11982983 prediction 0.521547372207246 Functional Loss - CFTR ENSG00000001626 CDS Human protein_coding chr7:117232509 chr7:117232511 stopgain 0.023 0 23 hm5C_associated_SNPs_62071 1 Pathogenic Cystic fibrosis RCV000056363.3
3875 chr3 12526188 12526188 1 + G T rs709161 12526186 + 12526166 12526206 41 CGGGACGGGGAGCCAGGCTTCCGAGTGCGCCCGGTCACTGA CGGGACGGGGAGCCAGGCTTCCTAGTGCGCCCGGTCACTGA < 41bp 0.760491632229245 0.428307876659842 0.8929932 0.43373743 prediction 0.520983264458491 Functional Loss - TSEN2 ENSG00000154743 UTR5 Human protein_coding chr3:12526186 chr3:12526188 . . 0 23 hm5C_associated_SNPs_62144 1 Benign Pontoneocerebellar hypoplasia RCV000330522.1
3875 chr17 4801226 4801226 1 + A C rs113366718 4801222 + 4801202 4801242 41 GGGAGCAGGGAGCCCTCACTCTCCACGCCCCTTGCTTGCAT GGGAGCAGGGAGCCCTCACTCTCCCCGCCCCTTGCTTGCAT < 41bp 0.760386842148548 0.385565561818844 0.9508431 0.6941731 prediction 0.520773684297097 Functional Loss - CHRNE;MINK1 ENSG00000108556;ENSG00000141503 UTR3 Human other chr17:4801222 chr17:4801226 . . 0 25 hm5C_associated_SNPs_62171 1 Uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive RCV000320424.1
3875 chr6 47445789 47445789 1 + A C rs1056434 47445785 + 47445765 47445805 41 GTCGCCGCCTTTGCCTCTGCCTCGAGGGCCGCGCTGAAGAG GTCGCCGCCTTTGCCTCTGCCTCGCGGGCCGCGCTGAAGAG < 41bp 0.853480893812759 0.593279072583758 0.6831684 0.08742425 prediction 0.520403642458001 Functional Loss - CD2AP ENSG00000198087 UTR5 Human protein_coding chr6:47445785 chr6:47445789 . . 0 25 hm5C_associated_SNPs_62228 1 Benign Focal segmental glomerulosclerosis RCV000372105.1
3875 chr18 29118843 29118843 1 + T C rs199681901 29118842 + 29118822 29118862 41 CACTCACAGTTTGTGAGTGTCTGCATGGCAGCGGCTGCAGG CACTCACAGTTTGTGAGTGTCCGCATGGCAGCGGCTGCAGG < 41bp 0.780819548201524 0.522416272649323 0.9107609 0.38302714 prediction 0.516806551104401 Functional Loss - DSG2 ENSG00000046604 CDS Human protein_coding chr18:29118842 chr18:29118843 nonsynonymous SNV 0.789 0 22 hm5C_associated_SNPs_62702 3 Uncertain significance not specified RCV000037272.2
3875 chr18 29118843 29118843 1 + T C rs199681901 29118842 + 29118822 29118862 41 CACTCACAGTTTGTGAGTGTCTGCATGGCAGCGGCTGCAGG CACTCACAGTTTGTGAGTGTCCGCATGGCAGCGGCTGCAGG < 41bp 0.780819548201524 0.522416272649323 0.9107609 0.38302714 prediction 0.516806551104401 Functional Loss - DSG2 ENSG00000046604 CDS Human protein_coding chr18:29118842 chr18:29118843 nonsynonymous SNV 0.789 0 22 hm5C_associated_SNPs_62702 3 Likely benign not provided RCV000172530.1
3875 chr18 29118843 29118843 1 + T C rs199681901 29118842 + 29118822 29118862 41 CACTCACAGTTTGTGAGTGTCTGCATGGCAGCGGCTGCAGG CACTCACAGTTTGTGAGTGTCCGCATGGCAGCGGCTGCAGG < 41bp 0.780819548201524 0.522416272649323 0.9107609 0.38302714 prediction 0.516806551104401 Functional Loss - DSG2 ENSG00000046604 CDS Human protein_coding chr18:29118842 chr18:29118843 nonsynonymous SNV 0.789 0 22 hm5C_associated_SNPs_62702 3 Likely benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000472634.1
3875 chr4 56230312 56230312 1 + G A BLCA 56230314 - 56230294 56230334 41 AAGACACTGACGTAGAGGCACTCGAAGAGTCTTCGTAAGCT AAGACACTGACGTAGAGGCACTTGAAGAGTCTTCGTAAGCT < 41bp 0.787575443891477 0.529418863088106 0.098766476 0.11283696 prediction 0.516313161606742 Functional Loss - SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56230314 chr4:56230312 nonsynonymous SNV 0.656 4 23 hm5C_associated_SNPs_62762 1 Likely pathogenic not provided RCV000482809.1
3875 chr12 57958726 57958726 1 + C T HNSC 57958724 + 57958704 57958744 41 CCAAGACAAATCTGTCCGTGCACGAGGACAAGAACCGGGTG CCAAGACAAATCTGTCCGTGCATGAGGACAAGAACCGGGTG < 41bp 0.793768736357846 0.536020697936425 0.34738037 0.3096465 prediction 0.515496076842842 Functional Loss - KIF5A ENSG00000155980 CDS Human protein_coding chr12:57958724 chr12:57958726 synonymous SNV . 0 23 hm5C_associated_SNPs_62874 1 Uncertain significance Spastic Paraplegia, Dominant RCV000390969.1
3875 chr16 21698949 21698949 1 + C T rs16972658 21698947 + 21698927 21698967 41 AGCGGCTCCCTCGGGACCTGCGCGAGGATGCCTTTAAGAAC AGCGGCTCCCTCGGGACCTGCGTGAGGATGCCTTTAAGAAC < 41bp 0.757451460086331 0.492103153075788 0.33182216 0.3787294 prediction 0.514902920172662 Functional Loss - OTOA ENSG00000155719 CDS Human protein_coding chr16:21698947 chr16:21698949 synonymous SNV . 0 23 hm5C_associated_SNPs_62962 1 Benign not specified RCV000041227.3
3875 chr20 43052756 43052756 1 + C T LGG 43052754 + 43052734 43052774 41 CAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGC CAACGACCGCCAGTATGACTCGTGTGGCCGCTTTGGAGAGC < 41bp 0.776275933412787 0.51903629852376 0.3292367 0.3404808 prediction 0.514479269778054 Functional Loss - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43052754 chr20:43052756 nonsynonymous SNV 0.172 3 23 hm5C_associated_SNPs_63034 2 Likely pathogenic Maturity-onset diabetes of the young, type 1 RCV000030034.1
3875 chr20 43052756 43052756 1 + C T LGG 43052754 + 43052734 43052774 41 CAACGACCGCCAGTATGACTCGCGTGGCCGCTTTGGAGAGC CAACGACCGCCAGTATGACTCGTGTGGCCGCTTTGGAGAGC < 41bp 0.776275933412787 0.51903629852376 0.3292367 0.3404808 prediction 0.514479269778054 Functional Loss - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43052754 chr20:43052756 nonsynonymous SNV 0.172 3 23 hm5C_associated_SNPs_63034 2 Likely pathogenic Hyperinsulinemia RCV000193933.1
3875 chr20 4680094 4680094 1 + C T rs112637437 4680092 + 4680072 4680112 41 ATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA ATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGA < 41bp 0.783004675153133 0.525786230081855 0.86861664 0.45055985 prediction 0.514436890142556 Functional Loss - PRNP ENSG00000171867 CDS Human protein_coding chr20:4680092 chr20:4680094 synonymous SNV . 0 23 hm5C_associated_SNPs_63039 2 Benign not specified RCV000202898.1
3875 chr20 4680094 4680094 1 + C T rs112637437 4680092 + 4680072 4680112 41 ATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGA ATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGA < 41bp 0.783004675153133 0.525786230081855 0.86861664 0.45055985 prediction 0.514436890142556 Functional Loss - PRNP ENSG00000171867 CDS Human protein_coding chr20:4680092 chr20:4680094 synonymous SNV . 0 23 hm5C_associated_SNPs_63039 2 Benign Genetic prion diseases RCV000283524.1
3875 chr5 235283 235283 1 + C T STAD 235281 + 235261 235301 41 GCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCAC GCTGTGGCCCTGAGAAAGATCATGTCTACCTGCAGCTGCAC < 41bp 0.766474605084815 0.509455402116517 0.32456976 0.23598483 prediction 0.514038405936595 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235281 chr5:235283 synonymous SNV . 0 23 hm5C_associated_SNPs_63088 3 Likely benign not specified RCV000423532.1
3875 chr5 235283 235283 1 + C T STAD 235281 + 235261 235301 41 GCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCAC GCTGTGGCCCTGAGAAAGATCATGTCTACCTGCAGCTGCAC < 41bp 0.766474605084815 0.509455402116517 0.32456976 0.23598483 prediction 0.514038405936595 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235281 chr5:235283 synonymous SNV . 0 23 hm5C_associated_SNPs_63088 3 Likely benign Mitochondrial complex II deficiency RCV000473235.1
3875 chr5 235283 235283 1 + C T STAD 235281 + 235261 235301 41 GCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCAC GCTGTGGCCCTGAGAAAGATCATGTCTACCTGCAGCTGCAC < 41bp 0.766474605084815 0.509455402116517 0.32456976 0.23598483 prediction 0.514038405936595 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235281 chr5:235283 synonymous SNV . 0 23 hm5C_associated_SNPs_63088 3 Likely benign Paragangliomas 5 RCV000473235.1
3875 chr11 124735414 124735414 1 + G T rs543770866 124735412 + 124735392 124735432 41 GGCTTACGGCTCCCAGCCCACGGGTCTCAGACCCAGGGGCT GGCTTACGGCTCCCAGCCCACGTGTCTCAGACCCAGGGGCT < 41bp 0.833331143385889 0.576690122044943 0.8741449 0.5564031 prediction 0.513282042681893 Functional Loss - ROBO3 ENSG00000154134 UTR5 Human protein_coding chr11:124735412 chr11:124735414 . . 0 23 hm5C_associated_SNPs_63191 1 Uncertain significance Gaze palsy, familial horizontal, with progressive scoliosis RCV000297893.1
3875 chr4 110902111 110902111 1 + A T rs11569017 110902107 + 110902087 110902127 41 ATGGGAAAACGTGTCTGGCTCTGGATGGTCATCAGCTGTTG ATGGGAAAACGTGTCTGGCTCTGGTTGGTCATCAGCTGTTG < 41bp 0.862980764120708 0.606430265694939 0.34847444 0.14874083 prediction 0.513100996851539 Functional Loss - EGF ENSG00000138798 CDS Human protein_coding chr4:110902107 chr4:110902111 nonsynonymous SNV 0.170 2 25 hm5C_associated_SNPs_63221 1 Likely benign Renal Hypomagnesemia, Recessive RCV000297814.1
3875 chr9 71789273 71789273 1 + G T rs199557806 71789270 + 71789250 71789290 41 GGTCCGGAGCTGCGCGCCTACGCGGGACCTGTGTCCGAAAT GGTCCGGAGCTGCGCGCCTACGCTGGACCTGTGTCCGAAAT < 41bp 0.76874999164307 0.512497973320881 0.40132564 0.1419462 prediction 0.512504036644376 Functional Loss - TJP2 ENSG00000119139 UTR5 Human protein_coding chr9:71789270 chr9:71789273 . . 0 24 hm5C_associated_SNPs_63323 1 Benign not specified RCV000252498.1
3875 chrX 22051181 22051181 1 + C T CESC 22051179 + 22051159 22051199 41 AAAGAAGGCCAACAGAGGCACTCGAATTGCCCTGGTCGTGT AAAGAAGGCCAACAGAGGCACTTGAATTGCCCTGGTCGTGT < 41bp 0.756240169609422 0.495625765246964 0.5762664 0.47730348 prediction 0.512480339218843 Functional Loss - PHEX ENSG00000102174 CDS Human protein_coding chrX:22051179 chrX:22051181 stopgain 0.029 0 23 hm5C_associated_SNPs_63329 1 Pathogenic not provided RCV000438600.1
3875 chr4 72313411 72313411 1 + C T rs34373561 72313409 + 72313389 72313429 41 AGGGGAAAGCCAAGTCCTACCACGAGATTGGCAGAGCCATT AGGGGAAAGCCAAGTCCTACCATGAGATTGGCAGAGCCATT < 41bp 0.756170960503937 0.493270371688862 0.31192985 0.22696921 prediction 0.512341921007874 Functional Loss - SLC4A4 ENSG00000080493 CDS Human protein_coding chr4:72313409 chr4:72313411 synonymous SNV . 0 23 hm5C_associated_SNPs_63354 1 Likely benign Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation RCV000295530.1
3875 chr6 44275060 44275060 1 + G A COAD 44275062 - 44275042 44275082 41 GGCGCACAGACACAGCGTACCGCGTGGTGGCTGACCACATC GGCGCACAGACACAGCGTACCGTGTGGTGGCTGACCACATC < 41bp 0.769573034264159 0.513562902101612 0.39202952 0.3227201 prediction 0.512020264325094 Functional Loss - AARS2 ENSG00000124608 CDS Human protein_coding chr6:44275062 chr6:44275060 synonymous SNV . 0 23 hm5C_associated_SNPs_63410 1 Likely benign not specified RCV000439888.1
3875 chr19 47259227 47259227 1 + A T rs200990647 47259223 + 47259203 47259243 41 GCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGAC GCCAGGTGCCTGGCCCTGAACGTCTGCCTGCGAGAGTGGAC < 41bp 0.756007901193342 0.438319577754728 0.05731228 0.05666092 prediction 0.512015802386683 Functional Loss - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259223 chr19:47259227 nonsynonymous SNV 0.991 3 25 hm5C_associated_SNPs_63411 2 other not specified RCV000173034.4
3875 chr19 47259227 47259227 1 + A T rs200990647 47259223 + 47259203 47259243 41 GCCAGGTGCCTGGCCCTGAACGTCAGCCTGCGAGAGTGGAC GCCAGGTGCCTGGCCCTGAACGTCTGCCTGCGAGAGTGGAC < 41bp 0.756007901193342 0.438319577754728 0.05731228 0.05666092 prediction 0.512015802386683 Functional Loss - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259223 chr19:47259227 nonsynonymous SNV 0.991 3 25 hm5C_associated_SNPs_63411 2 Benign Walker-Warburg congenital muscular dystrophy RCV000234733.2
3875 chr7 31011677 31011677 1 + C T rs740336 31011675 + 31011655 31011695 41 TGAAGGATGCTGCCCTTTTCCACAGCGACGACACTGACCAC TGAAGGATGCTGCCCTTTTCCATAGCGACGACACTGACCAC < 41bp 0.77817235525645 0.522710311998397 0.2698862 0.33279276 prediction 0.510924086516106 Functional Loss - GHRHR ENSG00000106128 CDS Human protein_coding chr7:31011675 chr7:31011677 nonsynonymous SNV 0.052 0 23 hm5C_associated_SNPs_63575 2 Benign Idiopathic growth hormone deficiency RCV000029939.1
3875 chr7 31011677 31011677 1 + C T rs740336 31011675 + 31011655 31011695 41 TGAAGGATGCTGCCCTTTTCCACAGCGACGACACTGACCAC TGAAGGATGCTGCCCTTTTCCATAGCGACGACACTGACCAC < 41bp 0.77817235525645 0.522710311998397 0.2698862 0.33279276 prediction 0.510924086516106 Functional Loss - GHRHR ENSG00000106128 CDS Human protein_coding chr7:31011675 chr7:31011677 nonsynonymous SNV 0.052 0 23 hm5C_associated_SNPs_63575 2 Likely benign Isolated Growth Hormone Deficiency RCV000349115.1
3875 chr3 129214396 129214396 1 + C T rs116819033 129214394 + 129214374 129214414 41 AACTGTACAAGAGGAGTGGGCACGAGAACCTCGCGCTTGAA AACTGTACAAGAGGAGTGGGCATGAGAACCTCGCGCTTGAA < 41bp 0.762528235013348 0.507109246963236 0.6155346 0.4362019 prediction 0.510837976100224 Functional Loss - IFT122 ENSG00000163913 CDS Human protein_coding chr3:129214394 chr3:129214396 synonymous SNV . 0 23 hm5C_associated_SNPs_63585 1 Likely benign Cranioectodermal dysplasia RCV000299125.1
3875 chr5 52942083 52942083 1 + A C rs31304 52942079 + 52942059 52942099 41 GTAGGATATCACTACTTTAACTGGAGTTCCAGAAGAGCATA GTAGGATATCACTACTTTAACTGGCGTTCCAGAAGAGCATA < 41bp 0.895840106359214 0.640651828537693 0.41486698 0.42522717 prediction 0.510376555643042 Functional Loss - NDUFS4 ENSG00000164258 CDS Human protein_coding chr5:52942079 chr5:52942083 nonsynonymous SNV . 0 25 hm5C_associated_SNPs_63665 3 Likely benign not specified RCV000117714.2
3875 chr5 52942083 52942083 1 + A C rs31304 52942079 + 52942059 52942099 41 GTAGGATATCACTACTTTAACTGGAGTTCCAGAAGAGCATA GTAGGATATCACTACTTTAACTGGCGTTCCAGAAGAGCATA < 41bp 0.895840106359214 0.640651828537693 0.41486698 0.42522717 prediction 0.510376555643042 Functional Loss - NDUFS4 ENSG00000164258 CDS Human protein_coding chr5:52942079 chr5:52942083 nonsynonymous SNV . 0 25 hm5C_associated_SNPs_63665 3 Benign Mitochondrial complex I deficiency RCV000280222.1
3875 chr5 52942083 52942083 1 + A C rs31304 52942079 + 52942059 52942099 41 GTAGGATATCACTACTTTAACTGGAGTTCCAGAAGAGCATA GTAGGATATCACTACTTTAACTGGCGTTCCAGAAGAGCATA < 41bp 0.895840106359214 0.640651828537693 0.41486698 0.42522717 prediction 0.510376555643042 Functional Loss - NDUFS4 ENSG00000164258 CDS Human protein_coding chr5:52942079 chr5:52942083 nonsynonymous SNV . 0 25 hm5C_associated_SNPs_63665 3 Benign Leigh syndrome RCV000342200.1
3875 chr3 12526198 12526198 1 + G T rs41293381 12526195 + 12526175 12526215 41 GAGCCAGGCTTCCGAGTGCGCCCGGTCACTGACTCCTCCGC GAGCCAGGCTTCCGAGTGCGCCCTGTCACTGACTCCTCCGC < 41bp 0.755131800206447 0.401690261364866 0.3168888 0.2199589 prediction 0.510263600412895 Functional Loss - TSEN2 ENSG00000154743 UTR5 Human protein_coding chr3:12526195 chr3:12526198 . . 0 24 hm5C_associated_SNPs_63673 1 Likely benign Pontoneocerebellar hypoplasia RCV000326328.1
3875 chr17 26861877 26861877 1 + C T rs61749867 26861875 + 26861855 26861895 41 ACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCA ACTGCACTCACTCCACCCAGCTTCAGGCCCCATTCCTGGCA < 41bp 0.755057794479605 0.478864582048331 0.84213275 0.03882423 prediction 0.51011558895921 Functional Loss - FOXN1 ENSG00000109101 CDS Human protein_coding chr17:26861875 chr17:26861877 nonsynonymous SNV 0.144 1 23 hm5C_associated_SNPs_63694 2 Likely benign T-cell immunodeficiency, congenital alopecia and nail dystrophy RCV000380418.1
3875 chr17 26861877 26861877 1 + C T rs61749867 26861875 + 26861855 26861895 41 ACTGCACTCACTCCACCCAGCTCCAGGCCCCATTCCTGGCA ACTGCACTCACTCCACCCAGCTTCAGGCCCCATTCCTGGCA < 41bp 0.755057794479605 0.478864582048331 0.84213275 0.03882423 prediction 0.51011558895921 Functional Loss - FOXN1 ENSG00000109101 CDS Human protein_coding chr17:26861875 chr17:26861877 nonsynonymous SNV 0.144 1 23 hm5C_associated_SNPs_63694 2 Benign not specified RCV000437225.2
3875 chr9 103054849 103054849 1 + C T rs116606949 103054847 + 103054827 103054867 41 CAGCTGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCC CAGCTGCAAGCCTTCCACCGCATGATAGCCACTGGAAGCCC < 41bp 0.777188790810931 0.522242550410756 0.6629715 0.5423937 prediction 0.50989248080035 Functional Loss - INVS ENSG00000119509 CDS Human protein_coding chr9:103054847 chr9:103054849 synonymous SNV . 0 23 hm5C_associated_SNPs_63722 2 other Nephronophthisis RCV000226248.2
3875 chr9 103054849 103054849 1 + C T rs116606949 103054847 + 103054827 103054867 41 CAGCTGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCC CAGCTGCAAGCCTTCCACCGCATGATAGCCACTGGAAGCCC < 41bp 0.777188790810931 0.522242550410756 0.6629715 0.5423937 prediction 0.50989248080035 Functional Loss - INVS ENSG00000119509 CDS Human protein_coding chr9:103054847 chr9:103054849 synonymous SNV . 0 23 hm5C_associated_SNPs_63722 2 Likely benign not specified RCV000247908.1
3875 chr2 179320828 179320828 1 + C T CESC 179320826 + 179320806 179320846 41 CATGGAGAGCATCCGAACCACACGACAGTGCTCACTGTCTG CATGGAGAGCATCCGAACCACATGACAGTGCTCACTGTCTG < 41bp 0.809218683251618 0.554481591737196 0.058478743 0.11258516 prediction 0.509474183028845 Functional Loss - DFNB59 ENSG00000204311 CDS Human protein_coding chr2:179320826 chr2:179320828 stopgain 0.939 0 23 hm5C_associated_SNPs_63804 2 Pathogenic Deafness, autosomal recessive 59 RCV000001363.2
3875 chr2 179320828 179320828 1 + C T CESC 179320826 + 179320806 179320846 41 CATGGAGAGCATCCGAACCACACGACAGTGCTCACTGTCTG CATGGAGAGCATCCGAACCACATGACAGTGCTCACTGTCTG < 41bp 0.809218683251618 0.554481591737196 0.058478743 0.11258516 prediction 0.509474183028845 Functional Loss - DFNB59 ENSG00000204311 CDS Human protein_coding chr2:179320826 chr2:179320828 stopgain 0.939 0 23 hm5C_associated_SNPs_63804 2 Pathogenic Nonsyndromic hearing loss and deafness RCV000223480.1
3875 chr5 149361976 149361976 1 + G T rs143723255 149361973 + 149361953 149361993 41 TCTCATCAGAAGTCTAATACCTGGGCAGGTTTATAACATCC TCTCATCAGAAGTCTAATACCTGTGCAGGTTTATAACATCC < 41bp 0.754379764812848 0.395084209208229 0.12166822 0.032420903 prediction 0.508759529625695 Functional Loss - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361973 chr5:149361976 . . 0 24 hm5C_associated_SNPs_63912 5 Likely benign Osteochondrodysplasia RCV000275245.1
3875 chr5 149361976 149361976 1 + G T rs143723255 149361973 + 149361953 149361993 41 TCTCATCAGAAGTCTAATACCTGGGCAGGTTTATAACATCC TCTCATCAGAAGTCTAATACCTGTGCAGGTTTATAACATCC < 41bp 0.754379764812848 0.395084209208229 0.12166822 0.032420903 prediction 0.508759529625695 Functional Loss - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361973 chr5:149361976 . . 0 24 hm5C_associated_SNPs_63912 5 Likely benign Diastrophic dysplasia RCV000318769.1
3875 chr5 149361976 149361976 1 + G T rs143723255 149361973 + 149361953 149361993 41 TCTCATCAGAAGTCTAATACCTGGGCAGGTTTATAACATCC TCTCATCAGAAGTCTAATACCTGTGCAGGTTTATAACATCC < 41bp 0.754379764812848 0.395084209208229 0.12166822 0.032420903 prediction 0.508759529625695 Functional Loss - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361973 chr5:149361976 . . 0 24 hm5C_associated_SNPs_63912 5 Likely benign Atelosteogenesis RCV000334003.1
3875 chr5 149361976 149361976 1 + G T rs143723255 149361973 + 149361953 149361993 41 TCTCATCAGAAGTCTAATACCTGGGCAGGTTTATAACATCC TCTCATCAGAAGTCTAATACCTGTGCAGGTTTATAACATCC < 41bp 0.754379764812848 0.395084209208229 0.12166822 0.032420903 prediction 0.508759529625695 Functional Loss - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361973 chr5:149361976 . . 0 24 hm5C_associated_SNPs_63912 5 Likely benign Achondrogenesis RCV000375681.1
3875 chr5 149361976 149361976 1 + G T rs143723255 149361973 + 149361953 149361993 41 TCTCATCAGAAGTCTAATACCTGGGCAGGTTTATAACATCC TCTCATCAGAAGTCTAATACCTGTGCAGGTTTATAACATCC < 41bp 0.754379764812848 0.395084209208229 0.12166822 0.032420903 prediction 0.508759529625695 Functional Loss - SLC26A2 ENSG00000155850 UTR3 Human protein_coding chr5:149361973 chr5:149361976 . . 0 24 hm5C_associated_SNPs_63912 5 Likely benign Multiple epiphyseal dysplasia 4 RCV000386073.1
3875 chr6 132172368 132172368 1 + A C rs1044498 132172367 + 132172347 132172387 41 TGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAA TGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCAA < 41bp 0.754143627839451 0.496948404244501 0.53301775 0.4558395 prediction 0.508287255678902 Functional Loss - ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172367 chr6:132172368 nonsynonymous SNV 0.010 0 22 hm5C_associated_SNPs_63982 6 other Insulin resistance, susceptibility to RCV000014558.3
3875 chr6 132172368 132172368 1 + A C rs1044498 132172367 + 132172347 132172387 41 TGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAA TGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCAA < 41bp 0.754143627839451 0.496948404244501 0.53301775 0.4558395 prediction 0.508287255678902 Functional Loss - ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172367 chr6:132172368 nonsynonymous SNV 0.010 0 22 hm5C_associated_SNPs_63982 6 other Diabetes mellitus type 2 RCV000014559.3
3875 chr6 132172368 132172368 1 + A C rs1044498 132172367 + 132172347 132172387 41 TGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAA TGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCAA < 41bp 0.754143627839451 0.496948404244501 0.53301775 0.4558395 prediction 0.508287255678902 Functional Loss - ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172367 chr6:132172368 nonsynonymous SNV 0.010 0 22 hm5C_associated_SNPs_63982 6 other Obesity RCV000033192.3
3875 chr6 132172368 132172368 1 + A C rs1044498 132172367 + 132172347 132172387 41 TGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAA TGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCAA < 41bp 0.754143627839451 0.496948404244501 0.53301775 0.4558395 prediction 0.508287255678902 Functional Loss - ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172367 chr6:132172368 nonsynonymous SNV 0.010 0 22 hm5C_associated_SNPs_63982 6 Benign not specified RCV000178259.1
3875 chr6 132172368 132172368 1 + A C rs1044498 132172367 + 132172347 132172387 41 TGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAA TGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCAA < 41bp 0.754143627839451 0.496948404244501 0.53301775 0.4558395 prediction 0.508287255678902 Functional Loss - ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172367 chr6:132172368 nonsynonymous SNV 0.010 0 22 hm5C_associated_SNPs_63982 6 Benign Hypophosphatemic Rickets, Recessive RCV000265863.1
3875 chr6 132172368 132172368 1 + A C rs1044498 132172367 + 132172347 132172387 41 TGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCAA TGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCAA < 41bp 0.754143627839451 0.496948404244501 0.53301775 0.4558395 prediction 0.508287255678902 Functional Loss - ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172367 chr6:132172368 nonsynonymous SNV 0.010 0 22 hm5C_associated_SNPs_63982 6 Benign Arterial calcification of infancy RCV000355961.1
3875 chr17 18024576 18024576 1 + A C rs372125621 18024572 + 18024552 18024592 41 CGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCA CGGCCCGCCGGCCCCGCTCGCTGCCGGAGTCCCCAGCCCCA < 41bp 0.754142948725115 0.426275288708341 0.86137795 0.3744713 prediction 0.50828589745023 Functional Loss - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18024572 chr17:18024576 nonsynonymous SNV 0.006 2 25 hm5C_associated_SNPs_63983 2 Benign not specified RCV000213458.3
3875 chr17 18024576 18024576 1 + A C rs372125621 18024572 + 18024552 18024592 41 CGGCCCGCCGGCCCCGCTCGCTGCAGGAGTCCCCAGCCCCA CGGCCCGCCGGCCCCGCTCGCTGCCGGAGTCCCCAGCCCCA < 41bp 0.754142948725115 0.426275288708341 0.86137795 0.3744713 prediction 0.50828589745023 Functional Loss - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18024572 chr17:18024576 nonsynonymous SNV 0.006 2 25 hm5C_associated_SNPs_63983 2 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000279765.1
3875 chr12 5154064 5154064 1 + G A rs12720442 5154061 + 5154041 5154081 41 CGGAGAGCTCTGGGTCCGCGCGGGCCATCGCCATCGTCTCG CGGAGAGCTCTGGGTCCGCGCGGACCATCGCCATCGTCTCG < 41bp 0.753944739813585 0.497676042524215 0.87842655 0.48476857 prediction 0.507889479627171 Functional Loss - KCNA5 ENSG00000130037 CDS Human protein_coding chr12:5154061 chr12:5154064 nonsynonymous SNV 0.481 0 24 hm5C_associated_SNPs_64037 2 Benign not specified RCV000171806.1
3875 chr12 5154064 5154064 1 + G A rs12720442 5154061 + 5154041 5154081 41 CGGAGAGCTCTGGGTCCGCGCGGGCCATCGCCATCGTCTCG CGGAGAGCTCTGGGTCCGCGCGGACCATCGCCATCGTCTCG < 41bp 0.753944739813585 0.497676042524215 0.87842655 0.48476857 prediction 0.507889479627171 Functional Loss - KCNA5 ENSG00000130037 CDS Human protein_coding chr12:5154061 chr12:5154064 nonsynonymous SNV 0.481 0 24 hm5C_associated_SNPs_64037 2 Likely benign Familial atrial fibrillation RCV000386305.1
3875 chr15 38591587 38591587 1 + C T HNSC 38591585 + 38591565 38591605 41 CTATTTTAGTAATAGTTATGCACGAGTGCGAGCTGTGGTGA CTATTTTAGTAATAGTTATGCATGAGTGCGAGCTGTGGTGA < 41bp 0.808163732219891 0.554578093432053 0.15850607 0.16492891 prediction 0.507171277575677 Functional Loss - SPRED1 ENSG00000166068 CDS Human protein_coding chr15:38591585 chr15:38591587 stopgain 1.000 1 23 hm5C_associated_SNPs_64143 1 Pathogenic not provided RCV000414009.1
3875 chr7 65551821 65551821 1 + C T rs12536292 65551819 + 65551799 65551839 41 CCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTG CCCTGGGGAGGTGGGTGAGGCTTCAGTGCCCCGAGGGCCTG < 41bp 0.769594927783542 0.51601720086909 0.8940888 0.45427975 prediction 0.507155453828904 Functional Loss - ASL ENSG00000126522 intronic Human protein_coding chr7:65551819 chr7:65551821 . . 0 23 hm5C_associated_SNPs_64145 2 Benign not specified RCV000078014.6
3875 chr7 65551821 65551821 1 + C T rs12536292 65551819 + 65551799 65551839 41 CCCTGGGGAGGTGGGTGAGGCTCCAGTGCCCCGAGGGCCTG CCCTGGGGAGGTGGGTGAGGCTTCAGTGCCCCGAGGGCCTG < 41bp 0.769594927783542 0.51601720086909 0.8940888 0.45427975 prediction 0.507155453828904 Functional Loss - ASL ENSG00000126522 intronic Human protein_coding chr7:65551819 chr7:65551821 . . 0 23 hm5C_associated_SNPs_64145 2 Likely benign Argininosuccinate lyase deficiency RCV000362818.1
3875 chr2 128186071 128186071 1 + C T UCEC 128186069 + 128186049 128186089 41 CTGGCCCAGCCCGCCACCCTCTCGCAGACCATAGTGCCCAT CTGGCCCAGCCCGCCACCCTCTTGCAGACCATAGTGCCCAT < 41bp 0.753197389647838 0.488942455388004 0.5174587 0.12504563 prediction 0.506394779295676 Functional Loss - PROC ENSG00000115718 CDS Human protein_coding chr2:128186069 chr2:128186071 nonsynonymous SNV 0.021 3 23 hm5C_associated_SNPs_64252 1 Pathogenic Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant RCV000000715.3
3875 chr7 128489503 128489503 1 + C T rs202027738 128489501 + 128489481 128489521 41 CCACGCCGGATGGGGCAGAGCTCGATGTGGATGTGGTTGAG CCACGCCGGATGGGGCAGAGCTTGATGTGGATGTGGTTGAG < 41bp 0.75280880722416 0.477935770736164 0.22514021 0.18307745 prediction 0.50561761444832 Functional Loss - FLNC ENSG00000128591 CDS Human protein_coding chr7:128489501 chr7:128489503 synonymous SNV . 0 23 hm5C_associated_SNPs_64383 1 Likely benign not specified RCV000433934.1
3875 chr15 65369399 65369399 1 + G C rs115182478 65369395 + 65369375 65369415 41 GGAGGACGAGCTGCTGCAGGCCGTGGAGTGCGCCGCCTTCC GGAGGACGAGCTGCTGCAGGCCGTCGAGTGCGCCGCCTTCC < 41bp 0.79310929168507 0.540343883705675 0.7491461 0.76618505 prediction 0.505530815958791 Functional Loss - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369395 chr15:65369399 synonymous SNV . 0 25 hm5C_associated_SNPs_64406 1 other not specified RCV000242542.2
3875 chr5 156679841 156679841 1 + A C rs2229736 156679837 + 156679817 156679857 41 TCCCTGAGTCACCATGGAAGCAGCATCCTGACCACAGCTGG TCCCTGAGTCACCATGGAAGCAGCCTCCTGACCACAGCTGG < 41bp 0.895409368387782 0.642815467077665 0.3404261 0.41876176 prediction 0.505187802620234 Functional Loss - ITK ENSG00000113263 UTR3 Human protein_coding chr5:156679837 chr5:156679841 . . 0 25 hm5C_associated_SNPs_64442 1 Likely benign Lymphoproliferative syndrome RCV000323222.1
3875 chr8 38095662 38095662 1 + C T rs2306899 38095660 + 38095640 38095680 41 GATGATTGGGGTTCAACACCCACGGAGCAGGGTCGACCAAG GATGATTGGGGTTCAACACCCATGGAGCAGGGTCGACCAAG < 41bp 0.783845800452806 0.531459306350593 0.45886272 0.25622174 prediction 0.504772988204426 Functional Loss - DDHD2 ENSG00000085788 CDS Human protein_coding chr8:38095660 chr8:38095662 nonsynonymous SNV 0.287 0 23 hm5C_associated_SNPs_64496 1 other not specified RCV000116873.3
3875 chr17 7983969 7983969 1 + G C rs2304908 7983965 + 7983945 7983985 41 CCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCA CCTCGTTCTCCCGTCACTCACACGCACTCACATGGGCCCCA < 41bp 0.820657465133963 0.568445415983649 0.8831916 0.36433178 prediction 0.504424098300628 Functional Loss - ALOX12B ENSG00000214999 UTR3 Human antisense chr17:7983965 chr17:7983969 . . 0 25 hm5C_associated_SNPs_64557 2 Benign not specified RCV000254306.1
3875 chr17 7983969 7983969 1 + G C rs2304908 7983965 + 7983945 7983985 41 CCTCGTTCTCCCGTCACTCACACGGACTCACATGGGCCCCA CCTCGTTCTCCCGTCACTCACACGCACTCACATGGGCCCCA < 41bp 0.820657465133963 0.568445415983649 0.8831916 0.36433178 prediction 0.504424098300628 Functional Loss - ALOX12B ENSG00000214999 UTR3 Human antisense chr17:7983965 chr17:7983969 . . 0 25 hm5C_associated_SNPs_64557 2 Benign Congenital ichthyosiform erythroderma RCV000359110.1
3875 chrX 99917265 99917265 1 + C T UCEC 99917263 + 99917243 99917283 41 TTATCACAGCAGCCTGGGCACGCGTTGTGAGCTCTCCTGTG TTATCACAGCAGCCTGGGCACGTGTTGTGAGCTCTCCTGTG < 41bp 0.7801365384436 0.527958166175426 0.26717025 0.35302734 prediction 0.504356744536348 Functional Loss - SRPX2 ENSG00000102359 CDS Human protein_coding chrX:99917263 chrX:99917265 nonsynonymous SNV 0.939 3 23 hm5C_associated_SNPs_64579 1 Uncertain significance not specified RCV000189579.1
3875 chr20 2637071 2637071 1 + T C rs8958 2637070 + 2637050 2637090 41 CCTGAAGACAAGGGGTAACACTCCAAAATATGGACTCATTT CCTGAAGACAAGGGGTAACACCCCAAAATATGGACTCATTT < 41bp 0.751889459589601 0.489989876594169 0.97541124 0.054619998 prediction 0.503778919179203 Functional Loss - NOP56 ENSG00000101361 CDS Human protein_coding chr20:2637070 chr20:2637071 synonymous SNV . 0 22 hm5C_associated_SNPs_64653 1 Likely benign not specified RCV000117822.2
3875 chr14 68200619 68200619 1 + G C rs535737403 68200615 + 68200595 68200635 41 CCAATCCATGCCATAATGAACAGGGACCAAGGAGAAGGCCA CCAATCCATGCCATAATGAACAGGCACCAAGGAGAAGGCCA < 41bp 0.75179746092376 0.492031994913254 0.8373203 0.28306383 prediction 0.50359492184752 Functional Loss - RDH12 ENSG00000139988 UTR3 Human protein_coding chr14:68200615 chr14:68200619 . . 0 25 hm5C_associated_SNPs_64688 1 Uncertain significance Retinitis Pigmentosa, Recessive RCV000353116.1
3875 chr7 55249005 55249005 1 + G T LUAD 55249003 + 55248983 55249023 41 CAGGAAGCCTACGTGATGGCCAGCGTGGACAACCCCCACGT CAGGAAGCCTACGTGATGGCCATCGTGGACAACCCCCACGT < 41bp 0.751395459510671 0.406916945994797 0.33462226 0.07835773 prediction 0.502790919021343 Functional Loss - EGFR ENSG00000146648 CDS Human protein_coding chr7:55249003 chr7:55249005 nonsynonymous SNV 0.992 5 23 hm5C_associated_SNPs_64803 3 other Non-small cell lung cancer RCV000038407.3
3875 chr7 55249005 55249005 1 + G T LUAD 55249003 + 55248983 55249023 41 CAGGAAGCCTACGTGATGGCCAGCGTGGACAACCCCCACGT CAGGAAGCCTACGTGATGGCCATCGTGGACAACCCCCACGT < 41bp 0.751395459510671 0.406916945994797 0.33462226 0.07835773 prediction 0.502790919021343 Functional Loss - EGFR ENSG00000146648 CDS Human protein_coding chr7:55249003 chr7:55249005 nonsynonymous SNV 0.992 5 23 hm5C_associated_SNPs_64803 3 Likely pathogenic Oesophageal carcinoma RCV000428042.1
3875 chr7 55249005 55249005 1 + G T LUAD 55249003 + 55248983 55249023 41 CAGGAAGCCTACGTGATGGCCAGCGTGGACAACCCCCACGT CAGGAAGCCTACGTGATGGCCATCGTGGACAACCCCCACGT < 41bp 0.751395459510671 0.406916945994797 0.33462226 0.07835773 prediction 0.502790919021343 Functional Loss - EGFR ENSG00000146648 CDS Human protein_coding chr7:55249003 chr7:55249005 nonsynonymous SNV 0.992 5 23 hm5C_associated_SNPs_64803 3 Likely pathogenic Squamous cell carcinoma of lung RCV000435248.1
3875 chr9 75309494 75309494 1 + C T UCEC 75309492 + 75309472 75309512 41 GGAGGTGGAAGATAAGCTACCTCGAAGAGAGAGCTTGAGAC GGAGGTGGAAGATAAGCTACCTTGAAGAGAGAGCTTGAGAC < 41bp 0.75128988515483 0.462443624788756 0.3691743 0.1227141 prediction 0.50257977030966 Functional Loss - TMC1 ENSG00000165091 CDS Human protein_coding chr9:75309492 chr9:75309494 stopgain 0.991 1 23 hm5C_associated_SNPs_64838 2 Pathogenic Deafness, autosomal recessive 7 RCV000004319.5
3875 chr9 75309494 75309494 1 + C T UCEC 75309492 + 75309472 75309512 41 GGAGGTGGAAGATAAGCTACCTCGAAGAGAGAGCTTGAGAC GGAGGTGGAAGATAAGCTACCTTGAAGAGAGAGCTTGAGAC < 41bp 0.75128988515483 0.462443624788756 0.3691743 0.1227141 prediction 0.50257977030966 Functional Loss - TMC1 ENSG00000165091 CDS Human protein_coding chr9:75309492 chr9:75309494 stopgain 0.991 1 23 hm5C_associated_SNPs_64838 2 Pathogenic Nonsyndromic hearing loss and deafness RCV000211859.1
3875 chr19 15662199 15662199 1 + A C rs7256787 15662198 + 15662178 15662218 41 CTGAGCGTGGACCGAACGCGCAAGGTGCGGCGGAAGCCGGA CTGAGCGTGGACCGAACGCGCCAGGTGCGGCGGAAGCCGGA < 41bp 0.751524035210665 0.500380056728468 0.7233768 0.56138444 prediction 0.502287956964395 Functional Loss - CYP4F22 ENSG00000171954 CDS Human protein_coding chr19:15662198 chr19:15662199 nonsynonymous SNV 1.000 0 22 hm5C_associated_SNPs_64879 1 Likely benign Congenital ichthyosiform erythroderma RCV000400323.1
3875 chr2 176984454 176984454 1 + A T rs13403839 176984450 + 176984430 176984470 41 AAAAAAAGATTAAGAAAACCCACAAGTTGGAGGGAGGGGGA AAAAAAAGATTAAGAAAACCCACATGTTGGAGGGAGGGGGA < 41bp 0.750872753609177 0.478375318413388 0.12583119 0.12672979 prediction 0.501745507218353 Functional Loss - HOXD10 ENSG00000128710 UTR3 Human protein_coding chr2:176984450 chr2:176984454 . . 0 25 hm5C_associated_SNPs_64974 1 Benign Vertical talus, congenital RCV000335883.1
3875 chr19 19312496 19312496 1 + C G rs1802498 19312500 - 19312480 19312520 41 GGTCAGCGGGCACCAGGTTGCTCTGGAAGAGCTTGAGGATG GGTCAGCGGGCACCAGGTTGCTCTCGAAGAGCTTGAGGATG < 41bp 0.750859707900657 0.483890174130437 0.61923337 0.6027672 prediction 0.501719415801314 Functional Loss - RFXANK ENSG00000064490 CDS Human protein_coding chr19:19312500 chr19:19312496 nonsynonymous SNV 0.999 1 25 hm5C_associated_SNPs_64981 1 Likely benign MHC Class II Deficiency RCV000266717.1
3875 chr15 57524981 57524981 1 + C T GBM 57524979 + 57524959 57524999 41 CACCAATGTCCAGCTTTCATCGCGGCAGTACCAGCAGTTCA CACCAATGTCCAGCTTTCATCGTGGCAGTACCAGCAGTTCA < 41bp 0.759595811831475 0.509024000064108 0.81351805 0.85615426 prediction 0.501143623534734 Functional Loss - TCF12 ENSG00000140262 CDS Human protein_coding chr15:57524979 chr15:57524981 synonymous SNV . 0 23 hm5C_associated_SNPs_65069 1 Uncertain significance not specified RCV000193062.1
3875 chr16 68771265 68771265 1 + G C rs5030874 68771264 + 68771244 68771284 41 GACTCCAGCCCGCTCCAGCCCGGCCCGACCCGACCGCACCC GACTCCAGCCCGCTCCAGCCCCGCCCGACCCGACCGCACCC < 41bp 0.750459704886253 0.492911010932517 0.8820488 0.45478413 prediction 0.500919409772505 Functional Loss - CDH1 ENSG00000039068 UTR5 Human protein_coding chr16:68771264 chr16:68771265 . . 0 22 hm5C_associated_SNPs_65105 1 other Hereditary diffuse gastric cancer RCV000204309.3
3875 chr12 50347951 50347951 1 + C T CESC 50347949 + 50347929 50347969 41 TGTCCCCAGCTCAGCAACAGCACGACGGCTGGCCAGGCGGT TGTCCCCAGCTCAGCAACAGCATGACGGCTGGCCAGGCGGT < 41bp 0.808045076726832 0.558309660435156 0.253403 0.2179173 prediction 0.499470832583352 Functional Loss - AQP2 ENSG00000167580 CDS Human protein_coding chr12:50347949 chr12:50347951 nonsynonymous SNV 0.299 3 23 hm5C_associated_SNPs_65361 1 Pathogenic Diabetes insipidus, nephrogenic, autosomal recessive RCV000019415.28
3875 chr2 190660536 190660536 1 + G T rs143323454 190660533 + 190660513 190660553 41 AAAATTGAGGTGCGAGATAACGGGGAGGGTATCAAGGCTGT AAAATTGAGGTGCGAGATAACGGTGAGGGTATCAAGGCTGT < 41bp 0.892683599559727 0.643132383985173 0.922631 0.7392849 prediction 0.499102431149108 Functional Loss - PMS1 ENSG00000064933 CDS Human protein_coding chr2:190660533 chr2:190660536 synonymous SNV . 0 24 hm5C_associated_SNPs_65427 1 Uncertain significance Lynch syndrome RCV000288531.1
3875 chr17 3565782 3565782 1 + G T rs80249487 3565779 + 3565759 3565799 41 ACGTGGGGTTGTGTCCCTCGCTGGGATACACGGAGTGCCCT ACGTGGGGTTGTGTCCCTCGCTGTGATACACGGAGTGCCCT < 41bp 0.872691000616872 0.623162798585952 0.4597617 0.10960528 prediction 0.499056404061841 Functional Loss - CTNS ENSG00000040531;ENSG00000213977;ENSG00000257950 downstream Human other chr17:3565779 chr17:3565782 . . 0 24 hm5C_associated_SNPs_65435 2 Uncertain significance Cystinosis RCV000264688.1
3875 chr17 3565782 3565782 1 + G T rs80249487 3565779 + 3565759 3565799 41 ACGTGGGGTTGTGTCCCTCGCTGGGATACACGGAGTGCCCT ACGTGGGGTTGTGTCCCTCGCTGTGATACACGGAGTGCCCT < 41bp 0.872691000616872 0.623162798585952 0.4597617 0.10960528 prediction 0.499056404061841 Functional Loss - CTNS ENSG00000040531;ENSG00000213977;ENSG00000257950 downstream Human other chr17:3565779 chr17:3565782 . . 0 24 hm5C_associated_SNPs_65435 2 Uncertain significance Nephropathic cystinosis RCV000357335.1
3875 chr3 30713590 30713590 1 + C T LUAD 30713588 + 30713568 30713608 41 ATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAG ATCTGAAGCATGAGAACATACTTCAGTTCCTGACGGCTGAG < 41bp 0.851589462324853 0.602194963268401 0.90500224 0.24877775 prediction 0.498788998112905 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713588 chr3:30713590 synonymous SNV . 0 23 hm5C_associated_SNPs_65483 4 Benign not specified RCV000198185.1
3875 chr3 30713590 30713590 1 + C T LUAD 30713588 + 30713568 30713608 41 ATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAG ATCTGAAGCATGAGAACATACTTCAGTTCCTGACGGCTGAG < 41bp 0.851589462324853 0.602194963268401 0.90500224 0.24877775 prediction 0.498788998112905 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713588 chr3:30713590 synonymous SNV . 0 23 hm5C_associated_SNPs_65483 4 Likely benign Loeys-Dietz syndrome RCV000296285.1
3875 chr3 30713590 30713590 1 + C T LUAD 30713588 + 30713568 30713608 41 ATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAG ATCTGAAGCATGAGAACATACTTCAGTTCCTGACGGCTGAG < 41bp 0.851589462324853 0.602194963268401 0.90500224 0.24877775 prediction 0.498788998112905 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713588 chr3:30713590 synonymous SNV . 0 23 hm5C_associated_SNPs_65483 4 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000348846.1
3875 chr3 30713590 30713590 1 + C T LUAD 30713588 + 30713568 30713608 41 ATCTGAAGCATGAGAACATACTCCAGTTCCTGACGGCTGAG ATCTGAAGCATGAGAACATACTTCAGTTCCTGACGGCTGAG < 41bp 0.851589462324853 0.602194963268401 0.90500224 0.24877775 prediction 0.498788998112905 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713588 chr3:30713590 synonymous SNV . 0 23 hm5C_associated_SNPs_65483 4 Likely benign Marfan syndrome RCV000388377.1
3875 chrX 50659247 50659247 1 + A C rs73488038 50659246 + 50659226 50659266 41 CCGACAAGCAGATGGTATCTCAGCTGAGGTTACTGCCTCTT CCGACAAGCAGATGGTATCTCCGCTGAGGTTACTGCCTCTT < 41bp 0.792615058087674 0.543232490033822 0.8350732 0.2203148 prediction 0.498765136107705 Functional Loss - BMP15 ENSG00000130385 CDS Human protein_coding chrX:50659246 chrX:50659247 synonymous SNV . 0 22 hm5C_associated_SNPs_65489 1 Benign not specified RCV000253260.1
3875 chr6 112382313 112382313 1 + G T rs1230345 112382311 + 112382291 112382331 41 ACTGGCCCTGCAAATGCCCTCAGCAGAAGCCCCGTTGCCCT ACTGGCCCTGCAAATGCCCTCATCAGAAGCCCCGTTGCCCT < 41bp 0.897463270720361 0.648251214532256 0.35968235 0.10262486 prediction 0.498424112376209 Functional Loss - WISP3 ENSG00000112761 CDS Human protein_coding chr6:112382311 chr6:112382313 nonsynonymous SNV 0.003 0 23 hm5C_associated_SNPs_65544 1 Benign Progressive pseudorheumatoid dysplasia RCV000332806.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Benign not specified RCV000040498.6
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000269330.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Likely benign Hereditary myopathy with early respiratory failure RCV000272987.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Likely benign Myopathy, early-onset, with fatal cardiomyopathy RCV000324491.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Likely benign Dilated Cardiomyopathy, Dominant RCV000327897.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Likely benign Distal myopathy Markesbery-Griggs type RCV000363859.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Likely benign Hypertrophic cardiomyopathy RCV000379377.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Benign Dilated cardiomyopathy 1G RCV000474879.1
3875 chr2 179447787 179447787 1 + G T rs62618736 179447785 + 179447765 179447805 41 TCCAAGGTGCACAGATTCCGCTGCATGGCCATCTTTATGCC TCCAAGGTGCACAGATTCCGCTTCATGGCCATCTTTATGCC < 41bp 0.749159775117993 0.442364777268356 0.09815717 0.05172372 prediction 0.498319550235986 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179447785 chr2:179447787 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_65565 9 Benign Limb-girdle muscular dystrophy, type 2J RCV000474879.1
3875 chr12 52115527 52115527 1 + G T rs35242963 52115524 + 52115504 52115544 41 CCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTA CCCATCCGGGCCCGCGAGCGCCGTAGCAGCTACAGCGGCTA < 41bp 0.748777587727997 0.363725492985722 0.8831627 0.49402773 prediction 0.497555175455994 Functional Loss - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52115524 chr12:52115527 synonymous SNV . 0 24 hm5C_associated_SNPs_65683 3 other not specified RCV000118278.4
3875 chr12 52115527 52115527 1 + G T rs35242963 52115524 + 52115504 52115544 41 CCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTA CCCATCCGGGCCCGCGAGCGCCGTAGCAGCTACAGCGGCTA < 41bp 0.748777587727997 0.363725492985722 0.8831627 0.49402773 prediction 0.497555175455994 Functional Loss - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52115524 chr12:52115527 synonymous SNV . 0 24 hm5C_associated_SNPs_65683 3 Benign Early infantile epileptic encephalopathy RCV000231542.2
3875 chr12 52115527 52115527 1 + G T rs35242963 52115524 + 52115504 52115544 41 CCCATCCGGGCCCGCGAGCGCCGGAGCAGCTACAGCGGCTA CCCATCCGGGCCCGCGAGCGCCGTAGCAGCTACAGCGGCTA < 41bp 0.748777587727997 0.363725492985722 0.8831627 0.49402773 prediction 0.497555175455994 Functional Loss - SCN8A ENSG00000196876 CDS Human protein_coding chr12:52115524 chr12:52115527 synonymous SNV . 0 24 hm5C_associated_SNPs_65683 3 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000394320.1
3875 chr16 68845620 68845620 1 + C T COAD 68845618 + 68845598 68845638 41 ATGGAGGTCACAGCCACAGACGCGGACGATGATGTGAACAC ATGGAGGTCACAGCCACAGACGTGGACGATGATGTGAACAC < 41bp 0.748305521894706 0.472824541946946 0.24009857 0.15331116 prediction 0.496611043789411 Functional Loss - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68845618 chr16:68845620 nonsynonymous SNV 0.881 1 23 hm5C_associated_SNPs_65855 1 Uncertain significance Hereditary diffuse gastric cancer RCV000196783.2
3875 chr5 231111 231111 1 + T C rs1126417 231110 + 231090 231130 41 AGAGTTTGTTCAGTTCCACCCTACAGGTAGGGCAGGACGCC AGAGTTTGTTCAGTTCCACCCCACAGGTAGGGCAGGACGCC < 41bp 0.747578142726707 0.485043177744123 0.25251156 0.043490678 prediction 0.495156285453414 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:231110 chr5:231111 synonymous SNV . 0 22 hm5C_associated_SNPs_66091 5 other not specified RCV000118321.3
3875 chr5 231111 231111 1 + T C rs1126417 231110 + 231090 231130 41 AGAGTTTGTTCAGTTCCACCCTACAGGTAGGGCAGGACGCC AGAGTTTGTTCAGTTCCACCCCACAGGTAGGGCAGGACGCC < 41bp 0.747578142726707 0.485043177744123 0.25251156 0.043490678 prediction 0.495156285453414 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:231110 chr5:231111 synonymous SNV . 0 22 hm5C_associated_SNPs_66091 5 Benign Hereditary cancer-predisposing syndrome RCV000162482.1
3875 chr5 231111 231111 1 + T C rs1126417 231110 + 231090 231130 41 AGAGTTTGTTCAGTTCCACCCTACAGGTAGGGCAGGACGCC AGAGTTTGTTCAGTTCCACCCCACAGGTAGGGCAGGACGCC < 41bp 0.747578142726707 0.485043177744123 0.25251156 0.043490678 prediction 0.495156285453414 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:231110 chr5:231111 synonymous SNV . 0 22 hm5C_associated_SNPs_66091 5 Likely benign Pheochromocytoma RCV000308030.1
3875 chr5 231111 231111 1 + T C rs1126417 231110 + 231090 231130 41 AGAGTTTGTTCAGTTCCACCCTACAGGTAGGGCAGGACGCC AGAGTTTGTTCAGTTCCACCCCACAGGTAGGGCAGGACGCC < 41bp 0.747578142726707 0.485043177744123 0.25251156 0.043490678 prediction 0.495156285453414 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:231110 chr5:231111 synonymous SNV . 0 22 hm5C_associated_SNPs_66091 5 Likely benign Mitochondrial complex II deficiency RCV000347829.1
3875 chr5 231111 231111 1 + T C rs1126417 231110 + 231090 231130 41 AGAGTTTGTTCAGTTCCACCCTACAGGTAGGGCAGGACGCC AGAGTTTGTTCAGTTCCACCCCACAGGTAGGGCAGGACGCC < 41bp 0.747578142726707 0.485043177744123 0.25251156 0.043490678 prediction 0.495156285453414 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:231110 chr5:231111 synonymous SNV . 0 22 hm5C_associated_SNPs_66091 5 Likely benign Leigh syndrome RCV000400279.1
3875 chr2 179404292 179404292 1 + C T CESC 179404290 + 179404270 179404310 41 GCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGAT GCTTTAGGCACTTCTCGTCTCTTGAGGATGTAGCCTAAGAT < 41bp 0.781123020698893 0.533832009706593 0.47613966 0.15572104 prediction 0.4945820219846 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179404290 chr2:179404292 nonsynonymous SNV 0.983 3 23 hm5C_associated_SNPs_66206 3 Likely benign not provided RCV000172608.1
3875 chr2 179404292 179404292 1 + C T CESC 179404290 + 179404270 179404310 41 GCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGAT GCTTTAGGCACTTCTCGTCTCTTGAGGATGTAGCCTAAGAT < 41bp 0.781123020698893 0.533832009706593 0.47613966 0.15572104 prediction 0.4945820219846 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179404290 chr2:179404292 nonsynonymous SNV 0.983 3 23 hm5C_associated_SNPs_66206 3 Likely benign Dilated cardiomyopathy 1G RCV000475641.1
3875 chr2 179404292 179404292 1 + C T CESC 179404290 + 179404270 179404310 41 GCTTTAGGCACTTCTCGTCTCTCGAGGATGTAGCCTAAGAT GCTTTAGGCACTTCTCGTCTCTTGAGGATGTAGCCTAAGAT < 41bp 0.781123020698893 0.533832009706593 0.47613966 0.15572104 prediction 0.4945820219846 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179404290 chr2:179404292 nonsynonymous SNV 0.983 3 23 hm5C_associated_SNPs_66206 3 Likely benign Limb-girdle muscular dystrophy, type 2J RCV000475641.1
3875 chr21 38862599 38862599 1 + C T UCEC 38862597 + 38862577 38862617 41 AGGGGTCTCTTTGAACCTAACACGAAAGTTTGCGCAACAGA AGGGGTCTCTTTGAACCTAACATGAAAGTTTGCGCAACAGA < 41bp 0.747179628143316 0.459650668013984 0.08629382 0.14242747 prediction 0.494359256286633 Functional Loss - DYRK1A ENSG00000157540 CDS Human protein_coding chr21:38862597 chr21:38862599 stopgain 1.000 1 23 hm5C_associated_SNPs_66249 1 Pathogenic not provided RCV000306377.1
3875 chr1 227149164 227149164 1 + C T rs150541057 227149162 + 227149142 227149182 41 CCCAGGCGGCCGTGGAAACCCACCTGCAGCACTTGGGCATC CCCAGGCGGCCGTGGAAACCCATCTGCAGCACTTGGGCATC < 41bp 0.795408069912844 0.548406002367604 0.21152732 0.35735807 prediction 0.49400413509048 Functional Loss - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227149162 chr1:227149164 synonymous SNV . 0 23 hm5C_associated_SNPs_66310 1 Benign not specified RCV000123534.1
3875 chr16 8942877 8942877 1 + G T rs186712555 8942874 + 8942854 8942894 41 ACACCCTCCATTGCTTGGTGCTGGGGTTGTGTGGCCTCCAC ACACCCTCCATTGCTTGGTGCTGTGGTTGTGTGGCCTCCAC < 41bp 0.885893576037677 0.639072578459693 0.78433716 0.13837418 prediction 0.493641995155969 Functional Loss - PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942874 chr16:8942877 . . 0 24 hm5C_associated_SNPs_66378 1 Uncertain significance Congenital disorder of glycosylation RCV000289181.1
3875 chr19 11097617 11097617 1 + C T LUAD 11097615 + 11097595 11097635 41 AACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGAT AACATGCCTCCCCCAGGACCCTTGGGCGTGCCCCCCGGGAT < 41bp 0.750606941818104 0.504143259814605 0.34351975 0.3258952 prediction 0.492927364006996 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11097615 chr19:11097617 nonsynonymous SNV 0.999 3 23 hm5C_associated_SNPs_66519 1 Uncertain significance Rhabdoid tumor predisposition syndrome 2 RCV000227895.2
3875 chrX 41333549 41333549 1 + G A rs3810733 41333546 + 41333526 41333566 41 TTCGCTGACCTGGCCGAGCTCGAGCTGCTCTACCTGGACCG TTCGCTGACCTGGCCGAGCTCGAACTGCTCTACCTGGACCG < 41bp 0.772087246058638 0.525803360615393 0.93234456 0.8960265 prediction 0.49256777088649 Functional Loss - NYX ENSG00000188937 CDS Human protein_coding chrX:41333546 chrX:41333549 synonymous SNV . 0 24 hm5C_associated_SNPs_66597 1 Likely benign Congenital stationary night blindness, X-linked RCV000306533.1
3875 chr7 31019006 31019006 1 + A C rs2586 31019002 + 31018982 31019022 41 GCAGCCCTTCCTCCCTGTCTCTGCATCTGACTCTCTTTTGA GCAGCCCTTCCTCCCTGTCTCTGCCTCTGACTCTCTTTTGA < 41bp 0.746119812162637 0.379898277519327 0.45589346 0.3163274 prediction 0.492239624325275 Functional Loss - GHRHR ENSG00000106128 UTR3 Human protein_coding chr7:31019002 chr7:31019006 . . 0 25 hm5C_associated_SNPs_66675 1 Uncertain significance Isolated Growth Hormone Deficiency RCV000272101.1
3875 chr3 147131159 147131159 1 + C T UCEC 147131157 + 147131137 147131177 41 GCAGGTCCACGAATCCTCCTCGCAGGGCTCGCAGCCTTCGC GCAGGTCCACGAATCCTCCTCGTAGGGCTCGCAGCCTTCGC < 41bp 0.746131365083886 0.500021312449457 0.2772046 0.23124051 prediction 0.492220105268858 Functional Loss - ZIC1 ENSG00000152977 CDS Human protein_coding chr3:147131157 chr3:147131159 stopgain 0.998 0 23 hm5C_associated_SNPs_66682 1 Pathogenic Craniosynostosis 6 RCV000412596.1
3875 chr1 162336953 162336953 1 + C T rs34398505 162336951 + 162336931 162336971 41 CTGCATTCGCCGCCGCTGGGCGCGGGCTTGGCTGACTTTGC CTGCATTCGCCGCCGCTGGGCGTGGGCTTGGCTGACTTTGC < 41bp 0.745970393632466 0.494977269646105 0.8439131 0.88716733 prediction 0.491940787264933 Functional Loss - NOS1AP ENSG00000198929;ENSG00000254706 CDS Human other chr1:162336951 chr1:162336953 nonsynonymous SNV 0.959 0 23 hm5C_associated_SNPs_66736 1 Uncertain significance Cardiac arrhythmia RCV000030340.1
3875 chr9 137711997 137711997 1 + G A rs2228560 137711999 - 137711979 137712019 41 CGCCCTTCTCACCCTGTTCACCCGGAGGACCGATGAGCCCG CGCCCTTCTCACCCTGTTCACCTGGAGGACCGATGAGCCCG < 41bp 0.761137653791191 0.515464102143853 0.31094033 0.23634374 prediction 0.491347103294675 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137711999 chr9:137711997 synonymous SNV . 0 23 hm5C_associated_SNPs_66840 3 Benign not specified RCV000179202.4
3875 chr9 137711997 137711997 1 + G A rs2228560 137711999 - 137711979 137712019 41 CGCCCTTCTCACCCTGTTCACCCGGAGGACCGATGAGCCCG CGCCCTTCTCACCCTGTTCACCTGGAGGACCGATGAGCCCG < 41bp 0.761137653791191 0.515464102143853 0.31094033 0.23634374 prediction 0.491347103294675 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137711999 chr9:137711997 synonymous SNV . 0 23 hm5C_associated_SNPs_66840 3 Benign Ehlers-Danlos syndrome, classic type RCV000204057.2
3875 chr9 137711997 137711997 1 + G A rs2228560 137711999 - 137711979 137712019 41 CGCCCTTCTCACCCTGTTCACCCGGAGGACCGATGAGCCCG CGCCCTTCTCACCCTGTTCACCTGGAGGACCGATGAGCCCG < 41bp 0.761137653791191 0.515464102143853 0.31094033 0.23634374 prediction 0.491347103294675 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137711999 chr9:137711997 synonymous SNV . 0 23 hm5C_associated_SNPs_66840 3 Likely benign Ehlers-Danlos syndrome, type 7A RCV000368361.1
3875 chr11 68700826 68700826 1 + C T UCEC 68700824 + 68700804 68700844 41 CGCCTGGCTGAGGAGTACGGCGCGAGGGTGGTGCGGACACT CGCCTGGCTGAGGAGTACGGCGTGAGGGTGGTGCGGACACT < 41bp 0.811204005309295 0.566255606064776 0.59222895 0.45015827 prediction 0.489896798489039 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68700824 chr11:68700826 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_67106 1 Uncertain significance not specified RCV000236000.1
3875 chr1 100356892 100356892 1 + C T UCEC 100356890 + 100356870 100356910 41 TGTCAGTAACCGGCTTATTTCACGATCAGGAACTATTGCTG TGTCAGTAACCGGCTTATTTCATGATCAGGAACTATTGCTG < 41bp 0.823889874981722 0.57901351866426 0.3090075 0.22149885 prediction 0.489752712634924 Functional Loss - AGL ENSG00000162688 CDS Human protein_coding chr1:100356890 chr1:100356892 stopgain 0.986 1 23 hm5C_associated_SNPs_67129 1 Likely pathogenic Glycogen storage disease type III RCV000412306.1
3875 chr3 129233373 129233373 1 + C T rs76881473 129233371 + 129233351 129233391 41 AGCTGGGTACCCTGACCATCCGCGCCAAGCCCTTCCACGAC AGCTGGGTACCCTGACCATCCGTGCCAAGCCCTTCCACGAC < 41bp 0.752076067204293 0.507582767473379 0.2203373 0.09018263 prediction 0.488986599461828 Functional Loss - IFT122 ENSG00000163913 CDS Human protein_coding chr3:129233371 chr3:129233373 synonymous SNV . 0 23 hm5C_associated_SNPs_67260 1 other not specified RCV000193036.2
3875 chr10 43601907 43601907 1 + G A COAD 43601904 + 43601884 43601924 41 CTGGTGAGGCGGTACACAAGCACGCTGCTCCCCGGGGACAC CTGGTGAGGCGGTACACAAGCACACTGCTCCCCGGGGACAC < 41bp 0.744487326428411 0.490238716405907 0.76866394 0.68578327 prediction 0.488974652856821 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43601904 chr10:43601907 synonymous SNV . 0 24 hm5C_associated_SNPs_67266 2 Likely benign Multiple endocrine neoplasia, type 2 RCV000205297.1
3875 chr10 43601907 43601907 1 + G A COAD 43601904 + 43601884 43601924 41 CTGGTGAGGCGGTACACAAGCACGCTGCTCCCCGGGGACAC CTGGTGAGGCGGTACACAAGCACACTGCTCCCCGGGGACAC < 41bp 0.744487326428411 0.490238716405907 0.76866394 0.68578327 prediction 0.488974652856821 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43601904 chr10:43601907 synonymous SNV . 0 24 hm5C_associated_SNPs_67266 2 Likely benign not specified RCV000251081.1
3875 chr9 130438929 130438929 1 + C T STAD 130438927 + 130438907 130438947 41 TGTCTTGTGCCCTCAGGCATCACGGAGGAAAACCTGAACAA TGTCTTGTGCCCTCAGGCATCATGGAGGAAAACCTGAACAA < 41bp 0.806189013556542 0.562273640465977 0.6548091 0.4290108 prediction 0.48783074618113 Functional Loss - STXBP1 ENSG00000136854 CDS Human protein_coding chr9:130438927 chr9:130438929 nonsynonymous SNV 0.973 4 23 hm5C_associated_SNPs_67516 1 Uncertain significance not specified RCV000189617.2
3875 chr16 1412297 1412297 1 + G A rs190614894 1412294 + 1412274 1412314 41 CGCTGACGTTCGAGACCCCCCTCGTCTGCCACCCCCACGCC CGCTGACGTTCGAGACCCCCCTCATCTGCCACCCCCACGCC < 41bp 0.743802011595513 0.494498497059029 0.11931753 0.12694281 prediction 0.487604023191026 Functional Loss - GNPTG ENSG00000090581 CDS Human protein_coding chr16:1412294 chr16:1412297 nonsynonymous SNV 0.712 4 24 hm5C_associated_SNPs_67567 1 Uncertain significance Mucolipidosis, Type III Gamma RCV000331567.1
3875 chr15 40494810 40494810 1 + G A rs28989187 40494807 + 40494787 40494827 41 CAGTCCTCCTGCAGATCCCCCACGAGTTTTAGCTCAACGAA CAGTCCTCCTGCAGATCCCCCACAAGTTTTAGCTCAACGAA < 41bp 0.749999037613224 0.506387582489611 0.089173555 0.026078075 prediction 0.487222910247228 Functional Loss - BUB1B ENSG00000156970 CDS Human protein_coding chr15:40494807 chr15:40494810 nonsynonymous SNV 0.159 0 24 hm5C_associated_SNPs_67637 2 other Mosaic variegated aneuploidy syndrome 1 RCV000007164.3
3875 chr15 40494810 40494810 1 + G A rs28989187 40494807 + 40494787 40494827 41 CAGTCCTCCTGCAGATCCCCCACGAGTTTTAGCTCAACGAA CAGTCCTCCTGCAGATCCCCCACAAGTTTTAGCTCAACGAA < 41bp 0.749999037613224 0.506387582489611 0.089173555 0.026078075 prediction 0.487222910247228 Functional Loss - BUB1B ENSG00000156970 CDS Human protein_coding chr15:40494807 chr15:40494810 nonsynonymous SNV 0.159 0 24 hm5C_associated_SNPs_67637 2 other Premature chromatid separation trait RCV000007165.4
3875 chr1 22149840 22149840 1 + G T rs116316900 22149838 + 22149818 22149858 41 GCAGGGGCGTGTGTTGGCCCCGGCCTGGGCGCGGTGCTGCA GCAGGGGCGTGTGTTGGCCCCGTCCTGGGCGCGGTGCTGCA < 41bp 0.743071685052604 0.41859054206348 0.3840347 0.13371634 prediction 0.486143370105208 Functional Loss - HSPG2 ENSG00000142798 CDS Human protein_coding chr1:22149838 chr1:22149840 nonsynonymous SNV 0.737 0 23 hm5C_associated_SNPs_67883 2 Uncertain significance Dyssegmental Dysplasia RCV000299146.1
3875 chr1 22149840 22149840 1 + G T rs116316900 22149838 + 22149818 22149858 41 GCAGGGGCGTGTGTTGGCCCCGGCCTGGGCGCGGTGCTGCA GCAGGGGCGTGTGTTGGCCCCGTCCTGGGCGCGGTGCTGCA < 41bp 0.743071685052604 0.41859054206348 0.3840347 0.13371634 prediction 0.486143370105208 Functional Loss - HSPG2 ENSG00000142798 CDS Human protein_coding chr1:22149838 chr1:22149840 nonsynonymous SNV 0.737 0 23 hm5C_associated_SNPs_67883 2 Uncertain significance Schwartz Jampel syndrome type 1 RCV000407722.1
3875 chr1 2237542 2237542 1 + G A rs146789646 2237539 + 2237519 2237559 41 CGTAACCTGCGGAAGGAGATCGAGCGTCTCCGCGCCGAGAA CGTAACCTGCGGAAGGAGATCGAACGTCTCCGCGCCGAGAA < 41bp 0.754194829649244 0.511620398338513 0.89494634 0.4171709 prediction 0.485148862621461 Functional Loss - SKI ENSG00000157933 CDS Human protein_coding chr1:2237539 chr1:2237542 synonymous SNV . 0 24 hm5C_associated_SNPs_68093 2 Benign not specified RCV000179419.1
3875 chr1 2237542 2237542 1 + G A rs146789646 2237539 + 2237519 2237559 41 CGTAACCTGCGGAAGGAGATCGAGCGTCTCCGCGCCGAGAA CGTAACCTGCGGAAGGAGATCGAACGTCTCCGCGCCGAGAA < 41bp 0.754194829649244 0.511620398338513 0.89494634 0.4171709 prediction 0.485148862621461 Functional Loss - SKI ENSG00000157933 CDS Human protein_coding chr1:2237539 chr1:2237542 synonymous SNV . 0 24 hm5C_associated_SNPs_68093 2 Benign Shprintzen-Goldberg syndrome RCV000473994.1
3875 chr6 7559514 7559514 1 + C T BLCA 7559512 + 7559492 7559532 41 TTATAAAGCCATCAGTGTCCCTCGAGTCCGCAGGGCCAGCT TTATAAAGCCATCAGTGTCCCTTGAGTCCGCAGGGCCAGCT < 41bp 0.828379056407998 0.585828349330583 0.36260703 0.12992877 prediction 0.485101414154829 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7559512 chr6:7559514 stopgain 0.997 1 23 hm5C_associated_SNPs_68103 3 Likely pathogenic Arrhythmogenic right ventricular cardiomyopathy RCV000038058.3
3875 chr6 7559514 7559514 1 + C T BLCA 7559512 + 7559492 7559532 41 TTATAAAGCCATCAGTGTCCCTCGAGTCCGCAGGGCCAGCT TTATAAAGCCATCAGTGTCCCTTGAGTCCGCAGGGCCAGCT < 41bp 0.828379056407998 0.585828349330583 0.36260703 0.12992877 prediction 0.485101414154829 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7559512 chr6:7559514 stopgain 0.997 1 23 hm5C_associated_SNPs_68103 3 Pathogenic not provided RCV000181275.2
3875 chr6 7559514 7559514 1 + C T BLCA 7559512 + 7559492 7559532 41 TTATAAAGCCATCAGTGTCCCTCGAGTCCGCAGGGCCAGCT TTATAAAGCCATCAGTGTCCCTTGAGTCCGCAGGGCCAGCT < 41bp 0.828379056407998 0.585828349330583 0.36260703 0.12992877 prediction 0.485101414154829 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7559512 chr6:7559514 stopgain 0.997 1 23 hm5C_associated_SNPs_68103 3 Pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000472617.1
3875 chr13 48936983 48936983 1 + C T BLCA 48936981 + 48936961 48937001 41 TATACCCATTAATGGTTCACCTCGAACACCCAGGCGAGGTC TATACCCATTAATGGTTCACCTTGAACACCCAGGCGAGGTC < 41bp 0.742245622245596 0.4401484170443 0.21937817 0.046038926 prediction 0.484491244491191 Functional Loss - RB1 ENSG00000139687 CDS Human protein_coding chr13:48936981 chr13:48936983 stopgain 1.000 1 23 hm5C_associated_SNPs_68227 1 Pathogenic Hereditary cancer-predisposing syndrome RCV000492399.1
3875 chr19 50912024 50912024 1 + C T ACC 50912022 + 50912002 50912042 41 TCCTAGCCCTGACTCCCGGCCGCGGCTGCTCCCCTCCCAGG TCCTAGCCCTGACTCCCGGCCGTGGCTGCTCCCCTCCCAGG < 41bp 0.742103851961093 0.496463373510966 0.74251723 0.68012965 prediction 0.484207703922185 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50912022 chr19:50912024 synonymous SNV . 0 23 hm5C_associated_SNPs_68288 1 Likely benign Colorectal cancer 10 RCV000410418.1
3875 chr4 88929246 88929246 1 + G T rs371898195 88929244 + 88929224 88929264 41 GATGGACGTAGAGTGGCGCCCGGGCAGCCGGAGGTCGGCCG GATGGACGTAGAGTGGCGCCCGTGCAGCCGGAGGTCGGCCG < 41bp 0.899411514153807 0.657420790129131 0.87299836 0.52504337 prediction 0.483981448049351 Functional Loss - PKD2 ENSG00000118762 CDS Human protein_coding chr4:88929244 chr4:88929246 nonsynonymous SNV 0.998 3 23 hm5C_associated_SNPs_68346 1 Uncertain significance not specified RCV000501803.1
3875 chr15 58830707 58830707 1 + C T rs7175412 58830705 + 58830685 58830725 41 TGCCTCTGGTGATGATAATCCACGGGTGGTCGGTAGGAAAT TGCCTCTGGTGATGATAATCCATGGGTGGTCGGTAGGAAAT < 41bp 0.802181511404726 0.560286526592176 0.46238115 0.32774392 prediction 0.4837899696251 Functional Loss - LIPC ENSG00000166035 CDS Human protein_coding chr15:58830705 chr15:58830707 synonymous SNV . 0 23 hm5C_associated_SNPs_68389 1 Likely benign Hepatic lipase deficiency RCV000350577.1
3875 chr20 45353991 45353991 1 + G A rs6094438 45353988 + 45353968 45354008 41 TGGCCTGGCTGGTCCTGGGCCGCGCTGTGGTTGGCTTCGCC TGGCCTGGCTGGTCCTGGGCCGCACTGTGGTTGGCTTCGCC < 41bp 0.741700191838582 0.490650210327371 0.17624757 0.08533785 prediction 0.483400383677163 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45353988 chr20:45353991 nonsynonymous SNV 0.055 1 24 hm5C_associated_SNPs_68487 1 Likely benign not specified RCV000195795.2
3875 chr22 45680870 45680870 1 + G C rs116162068 45680869 + 45680849 45680889 41 GCTCGCTGGACCGCCCGCCCCGCGCTCTGGCGGCTCCTCCC GCTCGCTGGACCGCCCGCCCCCCGCTCTGGCGGCTCCTCCC < 41bp 0.836579070632262 0.595290269028901 0.6158497 0.25840354 prediction 0.482577603206722 Functional Loss - UPK3A ENSG00000100373 UTR5 Human protein_coding chr22:45680869 chr22:45680870 . . 0 22 hm5C_associated_SNPs_68672 1 Likely benign Renal adysplasia RCV000381013.1
3875 chr3 46937345 46937345 1 + G A rs41290646 46937342 + 46937322 46937362 41 GGAGGACAAGGAGGCACCCACTGGCAGCAGGTACCGAGGTA GGAGGACAAGGAGGCACCCACTGACAGCAGGTACCGAGGTA < 41bp 0.741286889478888 0.488657684263382 0.37720853 0.14753267 prediction 0.482573778957775 Functional Loss - PTH1R ENSG00000160801 CDS Human protein_coding chr3:46937342 chr3:46937345 nonsynonymous SNV 0.964 0 24 hm5C_associated_SNPs_68673 2 Likely benign Chondrodysplasia RCV000327085.1
3875 chr3 46937345 46937345 1 + G A rs41290646 46937342 + 46937322 46937362 41 GGAGGACAAGGAGGCACCCACTGGCAGCAGGTACCGAGGTA GGAGGACAAGGAGGCACCCACTGACAGCAGGTACCGAGGTA < 41bp 0.741286889478888 0.488657684263382 0.37720853 0.14753267 prediction 0.482573778957775 Functional Loss - PTH1R ENSG00000160801 CDS Human protein_coding chr3:46937342 chr3:46937345 nonsynonymous SNV 0.964 0 24 hm5C_associated_SNPs_68673 2 Likely benign Metaphyseal chondrodysplasia RCV000362244.1
3875 chr8 145583707 145583707 1 + C T rs74370046 145583705 + 145583685 145583725 41 ACGGCACCCCTGGCCCCCCGCTCGACTTCCTTGAGCGTTTT ACGGCACCCCTGGCCCCCCGCTTGACTTCCTTGAGCGTTTT < 41bp 0.781488581849752 0.540264047577664 0.3381768 0.14153102 prediction 0.482449068544176 Functional Loss - SLC52A2 ENSG00000185803 CDS Human protein_coding chr8:145583705 chr8:145583707 synonymous SNV . 0 23 hm5C_associated_SNPs_68700 1 Benign not specified RCV000242474.2
3875 chr6 106553183 106553183 1 + C T SKCM 106553181 + 106553161 106553201 41 TACTTGAACGCGTCCTACGGCACGGAAGGTTTGGGCTCCTA TACTTGAACGCGTCCTACGGCATGGAAGGTTTGGGCTCCTA < 41bp 0.798625891094658 0.557533427177196 0.31920177 0.24215561 prediction 0.482184927834924 Functional Loss - PRDM1 ENSG00000057657 CDS Human protein_coding chr6:106553181 chr6:106553183 nonsynonymous SNV 0.012 1 23 hm5C_associated_SNPs_68750 1 not provided not specified RCV000121871.1
3875 chr20 35826857 35826857 1 + T C rs146315738 35826856 + 35826836 35826876 41 AGCAATGTGGATTCCCTCTTCTACGCTGCCCAGGCCAGCCA AGCAATGTGGATTCCCTCTTCCACGCTGCCCAGGCCAGCCA < 41bp 0.740862604237329 0.477320448838468 0.11763957 0.0829995 prediction 0.481725208474658 Functional Loss - RPN2 ENSG00000118705 CDS Human protein_coding chr20:35826856 chr20:35826857 nonsynonymous SNV 0.875 1 22 hm5C_associated_SNPs_68851 1 Benign not specified RCV000177167.1
3875 chr4 660340 660340 1 + G A rs61739716 660337 + 660317 660357 41 CAGCCTATGATGGACCGGAACAAGGCGGCCGAGCTCCCCAA CAGCCTATGATGGACCGGAACAAAGCGGCCGAGCTCCCCAA < 41bp 0.761572718199607 0.520718606487122 0.8954199 0.4541539 prediction 0.481708223424971 Functional Loss - PDE6B ENSG00000133256 CDS Human protein_coding chr4:660337 chr4:660340 synonymous SNV . 0 24 hm5C_associated_SNPs_68855 2 Likely benign Congenital Stationary Night Blindness, Dominant RCV000287891.1
3875 chr4 660340 660340 1 + G A rs61739716 660337 + 660317 660357 41 CAGCCTATGATGGACCGGAACAAGGCGGCCGAGCTCCCCAA CAGCCTATGATGGACCGGAACAAAGCGGCCGAGCTCCCCAA < 41bp 0.761572718199607 0.520718606487122 0.8954199 0.4541539 prediction 0.481708223424971 Functional Loss - PDE6B ENSG00000133256 CDS Human protein_coding chr4:660337 chr4:660340 synonymous SNV . 0 24 hm5C_associated_SNPs_68855 2 Likely benign Retinitis Pigmentosa, Recessive RCV000342880.1
3875 chr14 37132621 37132621 1 + C T STAD 37132619 + 37132599 37132639 41 GCGGCGGCCGCCAAGGTGCCCACGCCACCCGGGGTGCCTGC GCGGCGGCCGCCAAGGTGCCCATGCCACCCGGGGTGCCTGC < 41bp 0.740779812625857 0.495581246237362 0.530379 0.24583179 prediction 0.481559625251714 Functional Loss - PAX9 ENSG00000198807 CDS Human protein_coding chr14:37132619 chr14:37132621 nonsynonymous SNV 0.993 4 23 hm5C_associated_SNPs_68898 1 Uncertain significance Selective tooth agenesis RCV000286437.1
3875 chr19 45452429 45452429 1 + A C rs5126 45452428 + 45452408 45452448 41 CTCCCCAGGGACTTGTACAGCAAAAGCACAGCAGCCATGAG CTCCCCAGGGACTTGTACAGCCAAAGCACAGCAGCCATGAG < 41bp 0.73952999352334 0.481242590517937 0.21644565 0.15529072 prediction 0.479059987046681 Functional Loss - APOC2 ENSG00000224916;ENSG00000234906 CDS Human other chr19:45452428 chr19:45452429 nonsynonymous SNV 0.999 2 22 hm5C_associated_SNPs_69478 1 Pathogenic APOLIPOPROTEIN C-II (AFRICAN) RCV000002682.2
3875 chr14 20940627 20940627 1 + C T LGG 20940625 + 20940605 20940645 41 CGGTGAAATCCCCAACTTTCCCCGAAGTACAGGTACTGGCA CGGTGAAATCCCCAACTTTCCCTGAAGTACAGGTACTGGCA < 41bp 0.739291507163809 0.455283806282323 0.43211645 0.25860426 prediction 0.478583014327617 Functional Loss - PNP ENSG00000198805 CDS Human protein_coding chr14:20940625 chr14:20940627 stopgain 0.692 0 23 hm5C_associated_SNPs_69593 1 Pathogenic Purine-nucleoside phosphorylase deficiency RCV000015033.26
3875 chr2 71187104 71187104 1 + G A rs114234874 71187101 + 71187081 71187121 41 ACCCGCACTCCCGCATCTACCCCGAGGAGATGATTCAGACG ACCCGCACTCCCGCATCTACCCCAAGGAGATGATTCAGACG < 41bp 0.758571694324101 0.519292959214674 0.12706816 0.067083 prediction 0.478557470218853 Functional Loss - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71187101 chr2:71187104 nonsynonymous SNV 0.995 2 24 hm5C_associated_SNPs_69599 2 Benign not specified RCV000037208.3
3875 chr2 71187104 71187104 1 + G A rs114234874 71187101 + 71187081 71187121 41 ACCCGCACTCCCGCATCTACCCCGAGGAGATGATTCAGACG ACCCGCACTCCCGCATCTACCCCAAGGAGATGATTCAGACG < 41bp 0.758571694324101 0.519292959214674 0.12706816 0.067083 prediction 0.478557470218853 Functional Loss - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71187101 chr2:71187104 nonsynonymous SNV 0.995 2 24 hm5C_associated_SNPs_69599 2 Likely benign Renal tubular acidosis with progressive nerve deafness RCV000299123.1
3875 chr10 43596137 43596137 1 + G A rs201244749 43596134 + 43596114 43596154 41 TCCTCTACCTTAACCGGAGCCTGGACCATAGCTCCTGGGAG TCCTCTACCTTAACCGGAGCCTGAACCATAGCTCCTGGGAG < 41bp 0.75382052238272 0.514556018987534 0.39308247 0.35324967 prediction 0.478529006790373 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43596134 chr10:43596137 nonsynonymous SNV 0.902 1 24 hm5C_associated_SNPs_69602 1 not provided not specified RCV000121987.1
3875 chr3 30713741 30713741 1 + C T STAD 30713739 + 30713719 30713759 41 CAAGCTGGGCAGCTCCCTCGCCCGGGGGATTGCTCACCTCC CAAGCTGGGCAGCTCCCTCGCCTGGGGGATTGCTCACCTCC < 41bp 0.739254573276119 0.476413422796659 0.92567515 0.91408813 prediction 0.478509146552238 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713739 chr3:30713741 nonsynonymous SNV 0.999 4 23 hm5C_associated_SNPs_69607 1 Likely pathogenic not provided RCV000489285.1
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic Cowden syndrome 1 RCV000008256.3
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic Bannayan-Riley-Ruvalcaba syndrome RCV000008257.3
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic PTEN hamartoma tumor syndrome RCV000128455.3
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic Hereditary cancer-predisposing syndrome RCV000162649.4
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic not provided RCV000212882.1
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic Neoplasm of the breast RCV000427583.1
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic Colorectal Neoplasms RCV000434092.1
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 not provided Glioblastoma RCV000436969.1
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic Non-small cell lung cancer RCV000444248.1
3875 chr10 89717672 89717672 1 + C T CESC 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACATGACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.451106791008172 0.027666122 0.027178556 prediction 0.478358218180365 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717672 stopgain 0.999 1 23 hm5C_associated_SNPs_69649 10 Pathogenic Macrocephaly/autism syndrome RCV000477737.1
3875 chr7 55086780 55086780 1 + A C rs712830 55086776 + 55086756 55086796 41 CCCCCCGCACGGTGTGAGCGCCCGACGCGGCCGAGGCGGCC CCCCCCGCACGGTGTGAGCGCCCGCCGCGGCCGAGGCGGCC < 41bp 0.739174529306527 0.417353119196746 0.24355641 0.21156687 prediction 0.478349058613055 Functional Loss - EGFR ENSG00000146648 UTR5 Human protein_coding chr7:55086776 chr7:55086780 . . 0 25 hm5C_associated_SNPs_69652 1 Likely benign Lung cancer RCV000262345.1
3875 chr21 47412687 47412687 1 + G A rs151158105 47412684 + 47412664 47412704 41 TGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGC TGGCCCTGGAGAGAGAGGACCACAGGGGACCCCAGGCACGC < 41bp 0.767632389745295 0.528604929438698 0.32921544 0.11254758 prediction 0.478054920613193 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47412684 chr21:47412687 nonsynonymous SNV 0.832 1 24 hm5C_associated_SNPs_69737 2 Likely benign Collagen VI-related myopathy RCV000280526.1
3875 chr21 47412687 47412687 1 + G A rs151158105 47412684 + 47412664 47412704 41 TGGCCCTGGAGAGAGAGGACCACGGGGGACCCCAGGCACGC TGGCCCTGGAGAGAGAGGACCACAGGGGACCCCAGGCACGC < 41bp 0.767632389745295 0.528604929438698 0.32921544 0.11254758 prediction 0.478054920613193 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47412684 chr21:47412687 nonsynonymous SNV 0.832 1 24 hm5C_associated_SNPs_69737 2 other not specified RCV000403757.2
3875 chr9 214919 214919 1 + C T rs144097790 214922 - 214902 214942 41 GGGGTGCGGAAAGCGGGGGCCTGGCGCGCCGCAGAGTAGCC GGGGTGCGGAAAGCGGGGGCCTGACGCGCCGCAGAGTAGCC < 41bp 0.761841497490845 0.522870894392026 0.8613448 0.83403957 prediction 0.477941206197639 Functional Loss - C9orf66 ENSG00000183784 CDS Human protein_coding chr9:214922 chr9:214919 nonsynonymous SNV 0.002 0 24 hm5C_associated_SNPs_69764 1 Uncertain significance Hyper-IgE syndrome RCV000385902.1
3875 chr11 68704480 68704480 1 + G A rs2228207 68704477 + 68704457 68704497 41 AGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAG AGACTGCAGAGGGTCAGGAGCGCACAGGGGCAGCCCGCCAG < 41bp 0.770390844640757 0.531463428370219 0.39246652 0.24214923 prediction 0.477854832541076 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68704477 chr11:68704480 synonymous SNV . 0 24 hm5C_associated_SNPs_69784 2 Benign not specified RCV000244321.1
3875 chr11 68704480 68704480 1 + G A rs2228207 68704477 + 68704457 68704497 41 AGACTGCAGAGGGTCAGGAGCGCGCAGGGGCAGCCCGCCAG AGACTGCAGAGGGTCAGGAGCGCACAGGGGCAGCCCGCCAG < 41bp 0.770390844640757 0.531463428370219 0.39246652 0.24214923 prediction 0.477854832541076 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68704477 chr11:68704480 synonymous SNV . 0 24 hm5C_associated_SNPs_69784 2 Likely benign Spinal muscular atrophy RCV000277574.1
3875 chr1 160100012 160100012 1 + G A UCEC 160100009 + 160099989 160100029 41 TGCAGGGCAAGGAGATCCCGCTCGACAAGGAGATGCAAGAT TGCAGGGCAAGGAGATCCCGCTCAACAAGGAGATGCAAGAT < 41bp 0.738919989745009 0.49708725993418 0.25258225 0.17151454 prediction 0.477839979490019 Functional Loss - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160100009 chr1:160100012 nonsynonymous SNV 0.776 1 24 hm5C_associated_SNPs_69790 1 Uncertain significance not specified RCV000497790.1
3875 chr1 183184690 183184690 1 + C T rs11586699 183184688 + 183184668 183184708 41 CTGCCAGGCTTCCACATGCTCACGGATGCGGGGTGCACCCA CTGCCAGGCTTCCACATGCTCATGGATGCGGGGTGCACCCA < 41bp 0.820112826994952 0.58150036819566 0.2218042 0.608017 prediction 0.477224917598584 Functional Loss - LAMC2 ENSG00000058085 CDS Human protein_coding chr1:183184688 chr1:183184690 nonsynonymous SNV 0.507 3 23 hm5C_associated_SNPs_69974 1 Likely benign Epidermolysis bullosa, junctional RCV000314195.1
3875 chr21 47423894 47423894 1 + C T rs141237809 47423892 + 47423872 47423912 41 CCCTGCTCCGCGGTGTCTTCCACCAGACAGTCTCCAGGAAG CCCTGCTCCGCGGTGTCTTCCATCAGACAGTCTCCAGGAAG < 41bp 0.798716096684209 0.560105470974229 0.22137758 0.1641137 prediction 0.477221251419961 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423892 chr21:47423894 synonymous SNV . 0 23 hm5C_associated_SNPs_69975 1 Likely benign not specified RCV000116791.2
3875 chr17 74465813 74465813 1 + G A rs28936679 74465810 + 74465790 74465830 41 TGCATGTGCTGGCCGTGCACCGCGCCTTCCGGCAGCAGGGC TGCATGTGCTGGCCGTGCACCGCACCTTCCGGCAGCAGGGC < 41bp 0.738489122232392 0.490982173639218 0.40434292 0.14464593 prediction 0.476978244464783 Functional Loss - AANAT ENSG00000129673 CDS Human protein_coding chr17:74465810 chr17:74465813 nonsynonymous SNV 0.349 0 24 hm5C_associated_SNPs_70042 1 Uncertain significance Sleep-wake schedule disorder, delayed phase type RCV000009162.3
3875 chr21 47541477 47541477 1 + G A rs61735828 47541474 + 47541454 47541494 41 TCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATG TCTCTCCTGCCCTCAGGGATCTCAGGGAGACCCCGGTGATG < 41bp 0.74823988087282 0.509792871276156 0.6836233 0.7093493 prediction 0.476894019193328 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47541474 chr21:47541477 nonsynonymous SNV 1.000 3 24 hm5C_associated_SNPs_70058 3 Benign not specified RCV000241637.1
3875 chr21 47541477 47541477 1 + G A rs61735828 47541474 + 47541454 47541494 41 TCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATG TCTCTCCTGCCCTCAGGGATCTCAGGGAGACCCCGGTGATG < 41bp 0.74823988087282 0.509792871276156 0.6836233 0.7093493 prediction 0.476894019193328 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47541474 chr21:47541477 nonsynonymous SNV 1.000 3 24 hm5C_associated_SNPs_70058 3 Likely benign Myosclerosis RCV000305962.1
3875 chr21 47541477 47541477 1 + G A rs61735828 47541474 + 47541454 47541494 41 TCTCTCCTGCCCTCAGGGATCTCGGGGAGACCCCGGTGATG TCTCTCCTGCCCTCAGGGATCTCAGGGAGACCCCGGTGATG < 41bp 0.74823988087282 0.509792871276156 0.6836233 0.7093493 prediction 0.476894019193328 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47541474 chr21:47541477 nonsynonymous SNV 1.000 3 24 hm5C_associated_SNPs_70058 3 Likely benign Collagen VI-related myopathy RCV000360804.1
3875 chr2 26677571 26677571 1 + C T rs79027679 26677569 + 26677549 26677589 41 GTGCGTGACAACTCCAAGGACTCGGAGTACTGGCAGGCCCT GTGCGTGACAACTCCAAGGACTTGGAGTACTGGCAGGCCCT < 41bp 0.738260756617143 0.460347741146387 0.3064493 0.33244646 prediction 0.476521513234286 Functional Loss - DRC1 ENSG00000157856 CDS Human protein_coding chr2:26677569 chr2:26677571 nonsynonymous SNV 0.193 1 23 hm5C_associated_SNPs_70175 1 Benign Primary ciliary dyskinesia RCV000229282.2
3875 chr19 853327 853327 1 + A C LIHC 853326 + 853306 853346 41 CGCGGCGGGAGCCCACCCGGCAGGTGTTCGCCGTGCAGCGC CGCGGCGGGAGCCCACCCGGCCGGTGTTCGCCGTGCAGCGC < 41bp 0.81313017164547 0.57496542038654 0.83442855 0.4025413 prediction 0.476329502517859 Functional Loss - ELANE ENSG00000197561 CDS Human protein_coding chr19:853326 chr19:853327 nonsynonymous SNV 0.013 4 22 hm5C_associated_SNPs_70232 1 Likely pathogenic not provided RCV000489490.1
3875 chr1 180243539 180243539 1 + C T STAD 180243537 + 180243517 180243557 41 TTGCTCAATGGGCTGGATTACACGGTGGACAGTAATTTGGG TTGCTCAATGGGCTGGATTACATGGTGGACAGTAATTTGGG < 41bp 0.807611653154614 0.569615378925226 0.39800566 0.4714057 prediction 0.475992548458777 Functional Loss - LHX4 ENSG00000121454 CDS Human protein_coding chr1:180243537 chr1:180243539 nonsynonymous SNV 1.000 3 23 hm5C_associated_SNPs_70323 1 Uncertain significance Combined Pituitary Hormone Deficiency, Dominant RCV000368558.1
3875 chr16 31123565 31123565 1 + G A rs145180240 31123562 + 31123542 31123582 41 CGGCTCCGCCACATCGATGGCCGGGAGGAAAGCTTCCGGAT CGGCTCCGCCACATCGATGGCCGAGAGGAAAGCTTCCGGAT < 41bp 0.746117615674392 0.508123114644936 0.8948773 0.25898486 prediction 0.475989002058913 Functional Loss - BCKDK ENSG00000103507 CDS Human protein_coding chr16:31123562 chr16:31123565 synonymous SNV . 0 24 hm5C_associated_SNPs_70324 1 Uncertain significance not specified RCV000174344.2
3875 chr6 117246766 117246766 1 + T C UCEC 117246765 + 117246745 117246785 41 CATCCAGTCAACCTGGAGGCCTAGGCCCTGCTCTGCACCAG CATCCAGTCAACCTGGAGGCCCAGGCCCTGCTCTGCACCAG < 41bp 0.742494149804933 0.504507932055998 0.23424754 0.24320048 prediction 0.47597243549787 Functional Loss - RFX6 ENSG00000185002 CDS Human protein_coding chr6:117246765 chr6:117246766 nonsynonymous SNV 0.049 1 22 hm5C_associated_SNPs_70326 1 Uncertain significance not specified RCV000194409.1
3875 chr12 2786373 2786373 1 + G A STAD 2786375 - 2786355 2786395 41 GCCCTCACCTGCAGAGACAGCGCGTTCCTCTGGGAGGGCTT GCCCTCACCTGCAGAGACAGCGTGTTCCTCTGGGAGGGCTT < 41bp 0.75989609100211 0.522006709577008 0.18204513 0.19992736 prediction 0.475778762850204 Functional Loss - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2786375 chr12:2786373 nonsynonymous SNV 0.780 1 23 hm5C_associated_SNPs_70366 2 Uncertain significance not specified RCV000178426.2
3875 chr12 2786373 2786373 1 + G A STAD 2786375 - 2786355 2786395 41 GCCCTCACCTGCAGAGACAGCGCGTTCCTCTGGGAGGGCTT GCCCTCACCTGCAGAGACAGCGTGTTCCTCTGGGAGGGCTT < 41bp 0.75989609100211 0.522006709577008 0.18204513 0.19992736 prediction 0.475778762850204 Functional Loss - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2786375 chr12:2786373 nonsynonymous SNV 0.780 1 23 hm5C_associated_SNPs_70366 2 Uncertain significance Long QT syndrome RCV000468918.1
3875 chr7 128485143 128485143 1 + G A rs35281128 128485140 + 128485120 128485160 41 GAGGTGCTGATCCACAACAACGCGGATGGCACCTACCACAT GAGGTGCTGATCCACAACAACGCAGATGGCACCTACCACAT < 41bp 0.742996724277684 0.50534894323542 0.13676152 0.071165174 prediction 0.475295562084528 Functional Loss - FLNC ENSG00000128591 CDS Human protein_coding chr7:128485140 chr7:128485143 synonymous SNV . 0 24 hm5C_associated_SNPs_70500 1 Benign not specified RCV000117070.3
3875 chr12 65564324 65564324 1 + C T rs183253527 65564322 + 65564302 65564342 41 CAGTTCAGGGAGGGGGAGGACTCGCGATGAATGACAGGGCG CAGTTCAGGGAGGGGGAGGACTTGCGATGAATGACAGGGCG < 41bp 0.801328526411698 0.56370621971278 0.8465719 0.7826361 prediction 0.475244613397836 Functional Loss - LEMD3 ENSG00000174106 CDS Human protein_coding chr12:65564322 chr12:65564324 synonymous SNV . 0 23 hm5C_associated_SNPs_70516 1 Likely benign Dermatofibrosis lenticularis disseminata RCV000291631.1
3875 chr4 155487137 155487137 1 + G A UCS 155487134 + 155487114 155487154 41 CTGATGCTGGAGGCTGTCTTCACGCTGACCCAGACCTGGTG CTGATGCTGGAGGCTGTCTTCACACTGACCCAGACCTGGTG < 41bp 0.749225295980821 0.51162149500507 0.30773944 0.28426677 prediction 0.475207601951502 Functional Loss - FGB ENSG00000171564 CDS Human protein_coding chr4:155487134 chr4:155487137 nonsynonymous SNV 0.991 1 24 hm5C_associated_SNPs_70528 1 other FIBRINOGEN NAPLES RCV000017811.5
3875 chr15 67473779 67473779 1 + C T CESC 67473777 + 67473757 67473797 41 GAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGG GAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGG < 41bp 0.809723619694715 0.572221246982606 0.74474996 0.5182241 prediction 0.475004745424218 Functional Loss - SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67473777 chr15:67473779 nonsynonymous SNV 0.015 5 23 hm5C_associated_SNPs_70582 2 Pathogenic Loeys-Dietz syndrome 3 RCV000023241.3
3875 chr15 67473779 67473779 1 + C T CESC 67473777 + 67473757 67473797 41 GAATGCAGCAGTGGAGCTGACACGGAGACACATCGGTATGG GAATGCAGCAGTGGAGCTGACATGGAGACACATCGGTATGG < 41bp 0.809723619694715 0.572221246982606 0.74474996 0.5182241 prediction 0.475004745424218 Functional Loss - SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67473777 chr15:67473779 nonsynonymous SNV 0.015 5 23 hm5C_associated_SNPs_70582 2 Pathogenic not provided RCV000195645.3
3875 chr10 99519753 99519753 1 + G A rs4244329 99519750 + 99519730 99519770 41 GCCCCAATAGCTGGACAGACCTCGGCCTCCCCTCGAAGACA GCCCCAATAGCTGGACAGACCTCAGCCTCCCCTCGAAGACA < 41bp 0.755530044263046 0.51819360807541 0.07289636 0.010053575 prediction 0.474672872375272 Functional Loss - ZFYVE27 ENSG00000155256 UTR3 Human protein_coding chr10:99519750 chr10:99519753 . . 0 24 hm5C_associated_SNPs_70667 1 Benign Spastic Paraplegia, Dominant RCV000334693.1
3875 chr1 156838432 156838432 1 + C T rs55909005 156838430 + 156838410 156838450 41 ACAGAGCTGGAGCAGTCAGCCACGGTGATGGTGAGAAGACC ACAGAGCTGGAGCAGTCAGCCATGGTGATGGTGAGAAGACC < 41bp 0.772725686733337 0.535431263807032 0.5936566 0.37014484 prediction 0.47458884585261 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156838430 chr1:156838432 nonsynonymous SNV 0.856 2 23 hm5C_associated_SNPs_70693 3 Benign not specified RCV000179356.2
3875 chr1 156838432 156838432 1 + C T rs55909005 156838430 + 156838410 156838450 41 ACAGAGCTGGAGCAGTCAGCCACGGTGATGGTGAGAAGACC ACAGAGCTGGAGCAGTCAGCCATGGTGATGGTGAGAAGACC < 41bp 0.772725686733337 0.535431263807032 0.5936566 0.37014484 prediction 0.47458884585261 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156838430 chr1:156838432 nonsynonymous SNV 0.856 2 23 hm5C_associated_SNPs_70693 3 Benign not provided RCV000224131.1
3875 chr1 156838432 156838432 1 + C T rs55909005 156838430 + 156838410 156838450 41 ACAGAGCTGGAGCAGTCAGCCACGGTGATGGTGAGAAGACC ACAGAGCTGGAGCAGTCAGCCATGGTGATGGTGAGAAGACC < 41bp 0.772725686733337 0.535431263807032 0.5936566 0.37014484 prediction 0.47458884585261 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156838430 chr1:156838432 nonsynonymous SNV 0.856 2 23 hm5C_associated_SNPs_70693 3 Likely benign Hereditary insensitivity to pain with anhidrosis RCV000394770.1
3875 chr11 68703970 68703970 1 + G A rs111366439 68703967 + 68703947 68703987 41 CAGGGACCTGCTACGTCCACCAGGACCGGAAGCCAGCGGCA CAGGGACCTGCTACGTCCACCAGAACCGGAAGCCAGCGGCA < 41bp 0.780118124205344 0.542872374939529 0.90034324 0.8475996 prediction 0.47449149853163 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68703967 chr11:68703970 synonymous SNV . 0 24 hm5C_associated_SNPs_70726 1 Likely benign not specified RCV000422172.1
3875 chr15 72638712 72638712 1 + C T rs2303448 72638710 + 72638690 72638730 41 GTCTGGTGATGGTGGGGTAACTCCAGGGTCCCTCTCAACCA GTCTGGTGATGGTGGGGTAACTTCAGGGTCCCTCTCAACCA < 41bp 0.741231556441907 0.504230773834888 0.9613827 0.69225645 prediction 0.474001565214037 Functional Loss - HEXA ENSG00000261460 ncRNA_exonic Human antisense chr15:72638710 chr15:72638712 . . 0 23 hm5C_associated_SNPs_70868 1 Benign not specified RCV000251209.1
3875 chr2 173369391 173369391 1 + C T rs114005087 173369389 + 173369369 173369409 41 CCTGCTGCGCAGACGTCCATCACGTTAGCTGTCCCACATCA CCTGCTGCGCAGACGTCCATCATGTTAGCTGTCCCACATCA < 41bp 0.746255240125259 0.509315532779059 0.42370307 0.42669046 prediction 0.473879414692399 Functional Loss - ITGA6 ENSG00000225205 ncRNA_intronic Human antisense chr2:173369389 chr2:173369391 . . 0 23 hm5C_associated_SNPs_70893 1 Likely benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000291652.1
3875 chr6 7585967 7585967 1 + G C rs2744380 7585963 + 7585943 7585983 41 TTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCC TTACAACATGTCTTCGGCTCCGGGCTCCCGCTCCGGCTCCC < 41bp 0.807958294132975 0.571046161022306 0.9136253 0.84849447 prediction 0.473824266221338 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7585963 chr6:7585967 synonymous SNV . 0 25 hm5C_associated_SNPs_70911 7 Benign,Benign not specified,not specified RCV000154391.1,RCV000038104.4
3875 chr6 7585967 7585967 1 + G C rs2744380 7585963 + 7585943 7585983 41 TTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCC TTACAACATGTCTTCGGCTCCGGGCTCCCGCTCCGGCTCCC < 41bp 0.807958294132975 0.571046161022306 0.9136253 0.84849447 prediction 0.473824266221338 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7585963 chr6:7585967 synonymous SNV . 0 25 hm5C_associated_SNPs_70911 7 Benign Cardiovascular phenotype RCV000241982.1
3875 chr6 7585967 7585967 1 + G C rs2744380 7585963 + 7585943 7585983 41 TTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCC TTACAACATGTCTTCGGCTCCGGGCTCCCGCTCCGGCTCCC < 41bp 0.807958294132975 0.571046161022306 0.9136253 0.84849447 prediction 0.473824266221338 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7585963 chr6:7585967 synonymous SNV . 0 25 hm5C_associated_SNPs_70911 7 Benign Cardiomyopathy, ARVC RCV000273141.1
3875 chr6 7585967 7585967 1 + G C rs2744380 7585963 + 7585943 7585983 41 TTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCC TTACAACATGTCTTCGGCTCCGGGCTCCCGCTCCGGCTCCC < 41bp 0.807958294132975 0.571046161022306 0.9136253 0.84849447 prediction 0.473824266221338 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7585963 chr6:7585967 synonymous SNV . 0 25 hm5C_associated_SNPs_70911 7 Benign Ectodermal dysplasia skin fragility syndrome RCV000304085.1
3875 chr6 7585967 7585967 1 + G C rs2744380 7585963 + 7585943 7585983 41 TTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCC TTACAACATGTCTTCGGCTCCGGGCTCCCGCTCCGGCTCCC < 41bp 0.807958294132975 0.571046161022306 0.9136253 0.84849447 prediction 0.473824266221338 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7585963 chr6:7585967 synonymous SNV . 0 25 hm5C_associated_SNPs_70911 7 Benign Epidermolysis bullosa, lethal acantholytic RCV000328251.1
3875 chr6 7585967 7585967 1 + G C rs2744380 7585963 + 7585943 7585983 41 TTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCC TTACAACATGTCTTCGGCTCCGGGCTCCCGCTCCGGCTCCC < 41bp 0.807958294132975 0.571046161022306 0.9136253 0.84849447 prediction 0.473824266221338 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7585963 chr6:7585967 synonymous SNV . 0 25 hm5C_associated_SNPs_70911 7 Benign Skin fragility woolly hair syndrome RCV000363396.1
3875 chr18 60021742 60021742 1 + G A rs145242277 60021739 + 60021719 60021759 41 TGCCGCCGCAACACCGAGTGCGCGCCGGGCCTGGGCGCCCA TGCCGCCGCAACACCGAGTGCGCACCGGGCCTGGGCGCCCA < 41bp 0.736892587275956 0.487729298366042 0.24638578 0.19641751 prediction 0.473785174551913 Functional Loss - TNFRSF11A ENSG00000141655 CDS Human protein_coding chr18:60021739 chr18:60021742 synonymous SNV . 0 24 hm5C_associated_SNPs_70922 2 Uncertain significance Osteopetrosis RCV000313600.1
3875 chr18 60021742 60021742 1 + G A rs145242277 60021739 + 60021719 60021759 41 TGCCGCCGCAACACCGAGTGCGCGCCGGGCCTGGGCGCCCA TGCCGCCGCAACACCGAGTGCGCACCGGGCCTGGGCGCCCA < 41bp 0.736892587275956 0.487729298366042 0.24638578 0.19641751 prediction 0.473785174551913 Functional Loss - TNFRSF11A ENSG00000141655 CDS Human protein_coding chr18:60021739 chr18:60021742 synonymous SNV . 0 24 hm5C_associated_SNPs_70922 2 Uncertain significance Paget disease of bone RCV000392892.1
3875 chrX 138619303 138619303 1 + C T UCEC 138619301 + 138619281 138619321 41 AAAGTGTAGTTTTGAAGAAGCACGAGAAGTTTTTGAAAACA AAAGTGTAGTTTTGAAGAAGCATGAGAAGTTTTTGAAAACA < 41bp 0.736662995866642 0.459276987044939 0.1227085 0.11051226 prediction 0.473325991733285 Functional Loss - F9 ENSG00000101981 CDS Human protein_coding chrX:138619301 chrX:138619303 stopgain 1.000 1 23 hm5C_associated_SNPs_71035 1 Pathogenic Hereditary factor IX deficiency disease RCV000011318.3
3875 chr3 129247728 129247728 1 + G C rs149079952 129247724 + 129247704 129247744 41 ACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTC ACATGTTTCTGCTGATCGTGCTGGCCTTCCCCATCAACTTC < 41bp 0.849143748106691 0.612526169880267 0.14300221 0.10081038 prediction 0.473235156452848 Functional Loss - RHO ENSG00000163914 CDS Human protein_coding chr3:129247724 chr3:129247728 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_71064 2 Likely benign Retinitis Pigmentosa, Dominant/Recessive RCV000279557.1
3875 chr3 129247728 129247728 1 + G C rs149079952 129247724 + 129247704 129247744 41 ACATGTTTCTGCTGATCGTGCTGGGCTTCCCCATCAACTTC ACATGTTTCTGCTGATCGTGCTGGCCTTCCCCATCAACTTC < 41bp 0.849143748106691 0.612526169880267 0.14300221 0.10081038 prediction 0.473235156452848 Functional Loss - RHO ENSG00000163914 CDS Human protein_coding chr3:129247724 chr3:129247728 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_71064 2 Likely benign Congenital Stationary Night Blindness, Dominant RCV000336890.1
3875 chr1 15772212 15772212 1 + C T rs121909293 15772210 + 15772190 15772230 41 CAAGAAGCCGGTAGTCTACACCCGGGTGTCCGCCTACATCG CAAGAAGCCGGTAGTCTACACCTGGGTGTCCGCCTACATCG < 41bp 0.778760162433634 0.54222384941425 0.11816937 0.09577924 prediction 0.473072626038768 Functional Loss - CTRC ENSG00000162438 CDS Human protein_coding chr1:15772210 chr1:15772212 nonsynonymous SNV 0.929 5 23 hm5C_associated_SNPs_71105 2 other Pancreatitis, chronic, susceptibility to RCV000008657.2
3875 chr1 15772212 15772212 1 + C T rs121909293 15772210 + 15772190 15772230 41 CAAGAAGCCGGTAGTCTACACCCGGGTGTCCGCCTACATCG CAAGAAGCCGGTAGTCTACACCTGGGTGTCCGCCTACATCG < 41bp 0.778760162433634 0.54222384941425 0.11816937 0.09577924 prediction 0.473072626038768 Functional Loss - CTRC ENSG00000162438 CDS Human protein_coding chr1:15772210 chr1:15772212 nonsynonymous SNV 0.929 5 23 hm5C_associated_SNPs_71105 2 other Hereditary pancreatitis RCV000119045.3
3875 chr19 50910593 50910593 1 + G A CESC 50910590 + 50910570 50910610 41 TTCTCCCCTCCCAGGCCATGCACGAGGGGCTGCTGATGCCC TTCTCCCCTCCCAGGCCATGCACAAGGGGCTGCTGATGCCC < 41bp 0.777721734351463 0.541268834803796 0.068181485 0.02602446 prediction 0.472905799095334 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910590 chr19:50910593 nonsynonymous SNV 0.959 0 24 hm5C_associated_SNPs_71157 1 Uncertain significance Colorectal cancer 10 RCV000465945.1
3875 chr8 11615876 11615876 1 + A C rs7830178 11615875 + 11615855 11615895 41 CTCGGCCCTGAAGCTCTCCCCACAAGGCTATGCGTCTCCCG CTCGGCCCTGAAGCTCTCCCCCCAAGGCTATGCGTCTCCCG < 41bp 0.736434695340422 0.478224100561161 0.09726861 0.044940412 prediction 0.472869390680844 Functional Loss - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615875 chr8:11615876 synonymous SNV . 0 22 hm5C_associated_SNPs_71169 1 Benign Atrioventricular septal defect 4 RCV000234038.2
3875 chr5 235284 235284 1 + G A PAAD 235281 + 235261 235301 41 GCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCAC GCTGTGGCCCTGAGAAAGATCACATCTACCTGCAGCTGCAC < 41bp 0.766474605084815 0.530104754725066 0.32456976 0.15371013 prediction 0.472739700719497 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235281 chr5:235284 nonsynonymous SNV 0.998 0 24 hm5C_associated_SNPs_71193 2 Uncertain significance Mitochondrial complex II deficiency RCV000463908.1
3875 chr5 235284 235284 1 + G A PAAD 235281 + 235261 235301 41 GCTGTGGCCCTGAGAAAGATCACGTCTACCTGCAGCTGCAC GCTGTGGCCCTGAGAAAGATCACATCTACCTGCAGCTGCAC < 41bp 0.766474605084815 0.530104754725066 0.32456976 0.15371013 prediction 0.472739700719497 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235281 chr5:235284 nonsynonymous SNV 0.998 0 24 hm5C_associated_SNPs_71193 2 Uncertain significance Paragangliomas 5 RCV000463908.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Adenocarcinoma of stomach RCV000418604.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Small cell lung cancer RCV000418790.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Hepatocellular carcinoma RCV000419222.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000421640.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Adrenocortical carcinoma RCV000426894.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Glioblastoma RCV000427499.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Oesophageal carcinoma RCV000428164.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Transitional cell carcinoma of the bladder RCV000428839.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Adenocarcinoma of prostate RCV000431867.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Pancreatic adenocarcinoma RCV000436907.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000437128.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Neoplasm of the breast RCV000438411.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Colorectal Neoplasms RCV000439967.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Likely pathogenic Squamous cell carcinoma of lung RCV000441352.1
3875 chr17 7577581 7577581 1 + A G COAD 7577582 - 7577562 7577602 41 TCTGACTGTACCACCATCCACTACAACTACATGTGTAACAG TCTGACTGTACCACCATCCACCACAACTACATGTGTAACAG < 41bp 0.776477065576714 0.540113740581153 0.6024087 0.015852273 prediction 0.472726649991122 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577582 chr17:7577581 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_71197 15 Pathogenic Hereditary cancer-predisposing syndrome RCV000492782.1
3875 chr15 91346807 91346807 1 + C T COAD 91346805 + 91346785 91346825 41 TGGAAAAGGATCTGCTTATTCACGACACAATGCCGAAAGAC TGGAAAAGGATCTGCTTATTCATGACACAATGCCGAAAGAC < 41bp 0.839437026468988 0.603332190295777 0.10909209 0.11265537 prediction 0.472209672346422 Functional Loss - BLM ENSG00000197299 CDS Human protein_coding chr15:91346805 chr15:91346807 stopgain 1.000 1 23 hm5C_associated_SNPs_71323 1 Pathogenic Bloom syndrome RCV000144576.1
3875 chr12 57961391 57961391 1 + G A SKCM 57961388 + 57961368 57961408 41 GCTGTATCTGGTGGACCTGGCAGGGAGTGAGAAGGTAGGGG GCTGTATCTGGTGGACCTGGCAGAGAGTGAGAAGGTAGGGG < 41bp 0.773235711851377 0.537178059633204 0.8760711 0.4627314 prediction 0.472115304436345 Functional Loss - KIF5A ENSG00000155980 CDS Human protein_coding chr12:57961388 chr12:57961391 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_71343 1 Pathogenic Spastic paraplegia 10 RCV000030762.3
3875 chr20 30408157 30408157 1 + C T ESCA 30408155 + 30408135 30408175 41 GCGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCA GCGGAGGGCAGTGCTGGGCCCCTGGCAGCCCTGCCCCAGCA < 41bp 0.773258516329936 0.537233932212251 0.27334285 0.18055198 prediction 0.47204916823537 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408155 chr20:30408157 nonsynonymous SNV 0.033 0 23 hm5C_associated_SNPs_71366 2 Likely benign not specified RCV000183552.2
3875 chr20 30408157 30408157 1 + C T ESCA 30408155 + 30408135 30408175 41 GCGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCA GCGGAGGGCAGTGCTGGGCCCCTGGCAGCCCTGCCCCAGCA < 41bp 0.773258516329936 0.537233932212251 0.27334285 0.18055198 prediction 0.47204916823537 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408155 chr20:30408157 nonsynonymous SNV 0.033 0 23 hm5C_associated_SNPs_71366 2 Likely benign Familial hypertrophic cardiomyopathy 1 RCV000467946.1
3875 chr11 121008285 121008285 1 + C T rs142486386 121008283 + 121008263 121008303 41 ACTGGGCAGCCAGTGTGTCACGCGGAGTGAGTGTGGCTGCA ACTGGGCAGCCAGTGTGTCACGTGGAGTGAGTGTGGCTGCA < 41bp 0.813989431017923 0.578109417043838 0.64905643 0.8157079 prediction 0.47176002794817 Functional Loss - TECTA ENSG00000109927 CDS Human protein_coding chr11:121008283 chr11:121008285 nonsynonymous SNV 0.869 4 23 hm5C_associated_SNPs_71451 1 other not specified RCV000155286.2
3875 chr14 74728477 74728477 1 + G A rs45608043 74728474 + 74728454 74728494 41 CAAACCTTCTACCCTGGGTCCTCGGGCCCCTGAGCCTGTGT CAAACCTTCTACCCTGGGTCCTCAGGCCCCTGAGCCTGTGT < 41bp 0.763702079145858 0.527876594701339 0.33479953 0.2493932 prediction 0.471650968889038 Functional Loss - VSX2 ENSG00000119614 UTR3 Human protein_coding chr14:74728474 chr14:74728477 . . 0 24 hm5C_associated_SNPs_71476 2 Uncertain significance VSX2-related Microphthalmia RCV000279656.1
3875 chr14 74728477 74728477 1 + G A rs45608043 74728474 + 74728454 74728494 41 CAAACCTTCTACCCTGGGTCCTCGGGCCCCTGAGCCTGTGT CAAACCTTCTACCCTGGGTCCTCAGGCCCCTGAGCCTGTGT < 41bp 0.763702079145858 0.527876594701339 0.33479953 0.2493932 prediction 0.471650968889038 Functional Loss - VSX2 ENSG00000119614 UTR3 Human protein_coding chr14:74728474 chr14:74728477 . . 0 24 hm5C_associated_SNPs_71476 2 Uncertain significance Microphthalmia, isolated 6 RCV000318631.1
3875 chr7 107336428 107336428 1 + C T rs77407094 107336426 + 107336406 107336446 41 CCATCATTCTGGGGCTGGATCTCGGTTTACTAGCTGGCCTT CCATCATTCTGGGGCTGGATCTTGGTTTACTAGCTGGCCTT < 41bp 0.841785688968481 0.606067638166175 0.30031875 0.11439994 prediction 0.471436101604611 Functional Loss - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107336426 chr7:107336428 synonymous SNV . 0 23 hm5C_associated_SNPs_71541 2 Benign not specified RCV000036443.2
3875 chr7 107336428 107336428 1 + C T rs77407094 107336426 + 107336406 107336446 41 CCATCATTCTGGGGCTGGATCTCGGTTTACTAGCTGGCCTT CCATCATTCTGGGGCTGGATCTTGGTTTACTAGCTGGCCTT < 41bp 0.841785688968481 0.606067638166175 0.30031875 0.11439994 prediction 0.471436101604611 Functional Loss - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107336426 chr7:107336428 synonymous SNV . 0 23 hm5C_associated_SNPs_71541 2 Likely benign Pendred's syndrome RCV000169380.1
3875 chr12 100806614 100806614 1 + C T SKCM 100806612 + 100806592 100806632 41 CATACCAAAGGGGTGGCTATCTCCTTTCTGGTACTTGCTGT CATACCAAAGGGGTGGCTATCTTCTTTCTGGTACTTGCTGT < 41bp 0.735643565278151 0.44142395457718 0.30136856 0.081664264 prediction 0.471287130556301 Functional Loss - SLC17A8 ENSG00000179520 CDS Human protein_coding chr12:100806612 chr12:100806614 nonsynonymous SNV 1.000 1 23 hm5C_associated_SNPs_71589 1 Uncertain significance Nonsyndromic Hearing Loss, Dominant RCV000390800.1
3875 chr2 89036088 89036088 1 + G A rs72930711 89036085 + 89036065 89036105 41 AATCTCGGGGATCAGTGGCACAAGGGAATCCCCATCGAGGT AATCTCGGGGATCAGTGGCACAAAGGAATCCCCATCGAGGT < 41bp 0.747167607126737 0.511568349701786 0.40723562 0.08399096 prediction 0.471198514849902 Functional Loss - RPIA ENSG00000153574 CDS Human protein_coding chr2:89036085 chr2:89036088 synonymous SNV . 0 24 hm5C_associated_SNPs_71611 1 Likely benign Deficiency of ribose-5-phosphate isomerase RCV000270945.1
3875 chr15 65370281 65370281 1 + G A rs116623596 65370278 + 65370258 65370298 41 ATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCT ATCGACTGTCTCAACCTGGCCACAGGCCAGTGGACGGCGCT < 41bp 0.761124621443341 0.525579326799682 0.31008828 0.35942787 prediction 0.471090589287317 Functional Loss - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65370278 chr15:65370281 synonymous SNV . 0 24 hm5C_associated_SNPs_71642 2 other not specified RCV000117306.4
3875 chr15 65370281 65370281 1 + G A rs116623596 65370278 + 65370258 65370298 41 ATCGACTGTCTCAACCTGGCCACGGGCCAGTGGACGGCGCT ATCGACTGTCTCAACCTGGCCACAGGCCAGTGGACGGCGCT < 41bp 0.761124621443341 0.525579326799682 0.31008828 0.35942787 prediction 0.471090589287317 Functional Loss - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65370278 chr15:65370281 synonymous SNV . 0 24 hm5C_associated_SNPs_71642 2 Likely benign Nemaline Myopathy, Dominant RCV000267927.1
3875 chr11 117869878 117869878 1 + C T rs2229114 117869876 + 117869856 117869896 41 GCTGGGGACACACAGGGTGGCTCGGCCTTGGGCCACCACAG GCTGGGGACACACAGGGTGGCTTGGCCTTGGGCCACCACAG < 41bp 0.735453822997276 0.481663089100341 0.4436989 0.41975927 prediction 0.470907645994552 Functional Loss - IL10RA ENSG00000110324 CDS Human protein_coding chr11:117869876 chr11:117869878 nonsynonymous SNV 0.011 0 23 hm5C_associated_SNPs_71699 1 Likely benign Inflammatory bowel disease RCV000379319.1
3875 chr18 12329253 12329253 1 + G A rs79884272 12329250 + 12329230 12329270 41 CAGTGCAACGATCCCTGCCACACGGTCAGCCGACCCCACTT CAGTGCAACGATCCCTGCCACACAGTCAGCCGACCCCACTT < 41bp 0.750467619942325 0.515029982626684 0.17349827 0.009210199 prediction 0.470875274631282 Functional Loss - AFG3L2;TUBB6 ENSG00000141385;ENSG00000176014 UTR3 Human other chr18:12329250 chr18:12329253 . . 0 24 hm5C_associated_SNPs_71706 1 Likely benign Spinocerebellar Ataxia, Dominant RCV000340153.1
3875 chr1 119964548 119964548 1 + G A SKCM 119964545 + 119964525 119964565 41 AGGAAATCATCCAGAACGGCCACGAAGAAGAGCCTCTGGAA AGGAAATCATCCAGAACGGCCACAAAGAAGAGCCTCTGGAA < 41bp 0.740079395172619 0.504695319769272 0.14639181 0.10341087 prediction 0.470768150806693 Functional Loss - HSD3B2 ENSG00000203859 CDS Human protein_coding chr1:119964545 chr1:119964548 nonsynonymous SNV 0.006 5 24 hm5C_associated_SNPs_71737 1 Pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency RCV000012973.3
3875 chr17 78092070 78092070 1 + C T rs121907943 78092068 + 78092048 78092088 41 CCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGG CCTGACCAAGGGTGGGGAGGCCTGAGGGGAGCTGTTCTGGG < 41bp 0.802830804443587 0.567455470207617 0.7451361 0.80403936 prediction 0.470750668471939 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78092068 chr17:78092070 stopgain 0.021 0 23 hm5C_associated_SNPs_71742 2 Pathogenic Glycogen storage disease, type II RCV000004249.5
3875 chr17 78092070 78092070 1 + C T rs121907943 78092068 + 78092048 78092088 41 CCTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGG CCTGACCAAGGGTGGGGAGGCCTGAGGGGAGCTGTTCTGGG < 41bp 0.802830804443587 0.567455470207617 0.7451361 0.80403936 prediction 0.470750668471939 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78092068 chr17:78092070 stopgain 0.021 0 23 hm5C_associated_SNPs_71742 2 Pathogenic not provided RCV000255539.1
3875 chr5 10261748 10261748 1 + G A rs143444882 10261745 + 10261725 10261765 41 AGCCGAGAAGCTGGGCTTTGCTGGTCTTGTACAGGAGATCT AGCCGAGAAGCTGGGCTTTGCTGATCTTGTACAGGAGATCT < 41bp 0.748944072197161 0.513615016102029 0.7091054 0.54638445 prediction 0.470658112190264 Functional Loss - CCT5 ENSG00000150753 CDS Human protein_coding chr5:10261745 chr5:10261748 nonsynonymous SNV 0.730 3 24 hm5C_associated_SNPs_71774 1 Uncertain significance Sensory Neuropathy with Spastic Paraplegia RCV000303297.1
3875 chr10 85972941 85972941 1 + C T PRAD 85972939 + 85972919 85972959 41 GTGTTCGACATCAATTCCCACACGGGGGAGATCTGGCTCAA GTGTTCGACATCAATTCCCACATGGGGGAGATCTGGCTCAA < 41bp 0.735160407352901 0.449150064899132 0.22713435 0.8621437 prediction 0.470320814705802 Functional Loss - CDHR1 ENSG00000148600 CDS Human protein_coding chr10:85972939 chr10:85972941 nonsynonymous SNV 0.423 4 23 hm5C_associated_SNPs_71870 1 Uncertain significance not specified RCV000175103.1
3875 chr2 48026290 48026290 1 + G A LGG 48026287 + 48026267 48026307 41 ACAGGAGGAGGCCTGATCACCCCGATTTTGATGCATCTACA ACAGGAGGAGGCCTGATCACCCCAATTTTGATGCATCTACA < 41bp 0.735532665271486 0.500448600863518 0.15170375 0.16758782 prediction 0.470168128815937 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026287 chr2:48026290 nonsynonymous SNV 0.998 2 24 hm5C_associated_SNPs_71911 1 Uncertain significance not specified RCV000115369.3
3875 chrX 153667407 153667407 1 + G A COAD 153667404 + 153667384 153667424 41 GTGACTCGCTACCTGGACTTCAAGGTGGTGGAGGGCAGCTT GTGACTCGCTACCTGGACTTCAAAGTGGTGGAGGGCAGCTT < 41bp 0.75327820750277 0.518356971425902 0.81413686 0.6935891 prediction 0.469842472153736 Functional Loss - GDI1 ENSG00000203879 CDS Human protein_coding chrX:153667404 chrX:153667407 synonymous SNV . 0 24 hm5C_associated_SNPs_72013 1 Likely benign not specified RCV000419604.1
3875 chr21 47422195 47422195 1 + G A rs147219060 47422192 + 47422172 47422212 41 ACGGGGGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCC ACGGGGGAGGCCCTGCAGTACACACGGGACCAGCTGCTGCC < 41bp 0.734751574204535 0.488449309312145 0.37073252 0.16480312 prediction 0.46950314840907 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47422192 chr21:47422195 synonymous SNV . 0 24 hm5C_associated_SNPs_72112 2 other not specified RCV000079785.6
3875 chr21 47422195 47422195 1 + G A rs147219060 47422192 + 47422172 47422212 41 ACGGGGGAGGCCCTGCAGTACACGCGGGACCAGCTGCTGCC ACGGGGGAGGCCCTGCAGTACACACGGGACCAGCTGCTGCC < 41bp 0.734751574204535 0.488449309312145 0.37073252 0.16480312 prediction 0.46950314840907 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47422192 chr21:47422195 synonymous SNV . 0 24 hm5C_associated_SNPs_72112 2 Likely benign Collagen VI-related myopathy RCV000283833.1
3875 chr3 87302886 87302886 1 + C T READ 87302884 + 87302864 87302904 41 GGCCAAAGCTCCATCAGCTGCTCGAAGCTTACCATCTGCCT GGCCAAAGCTCCATCAGCTGCTTGAAGCTTACCATCTGCCT < 41bp 0.805634311210689 0.570950610342372 0.29973823 0.040712267 prediction 0.469367401736634 Functional Loss - CHMP2B ENSG00000083937 CDS Human protein_coding chr3:87302884 chr3:87302886 stopgain 0.145 1 23 hm5C_associated_SNPs_72142 2 Pathogenic Frontotemporal Dementia, Chromosome 3-Linked RCV000020695.1
3875 chr3 87302886 87302886 1 + C T READ 87302884 + 87302864 87302904 41 GGCCAAAGCTCCATCAGCTGCTCGAAGCTTACCATCTGCCT GGCCAAAGCTCCATCAGCTGCTTGAAGCTTACCATCTGCCT < 41bp 0.805634311210689 0.570950610342372 0.29973823 0.040712267 prediction 0.469367401736634 Functional Loss - CHMP2B ENSG00000083937 CDS Human protein_coding chr3:87302884 chr3:87302886 stopgain 0.145 1 23 hm5C_associated_SNPs_72142 2 not provided not provided RCV000084278.1
3875 chr5 126746165 126746165 1 + C T rs142947482 126746163 + 126746143 126746183 41 TCAACGGAGGGAAGTGTTACCACGTGAGCGGCGCATGCCTC TCAACGGAGGGAAGTGTTACCATGTGAGCGGCGCATGCCTC < 41bp 0.82166462125953 0.587099774465404 0.71425474 0.7656957 prediction 0.469129693588253 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126746163 chr5:126746165 synonymous SNV . 0 23 hm5C_associated_SNPs_72198 2 Uncertain significance Myopathy, areflexia, respiratory distress, and dysphagia, early-onset RCV000397639.1
3875 chr5 126746165 126746165 1 + C T rs142947482 126746163 + 126746143 126746183 41 TCAACGGAGGGAAGTGTTACCACGTGAGCGGCGCATGCCTC TCAACGGAGGGAAGTGTTACCATGTGAGCGGCGCATGCCTC < 41bp 0.82166462125953 0.587099774465404 0.71425474 0.7656957 prediction 0.469129693588253 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126746163 chr5:126746165 synonymous SNV . 0 23 hm5C_associated_SNPs_72198 2 Likely benign not specified RCV000439607.1
3875 chr8 43055943 43055943 1 + G A rs61743005 43055940 + 43055920 43055960 41 CCTTCCCCGGCGAGATGGCCCTCGGCCTGTGCCGCTGCTTC CCTTCCCCGGCGAGATGGCCCTCAGCCTGTGCCGCTGCTTC < 41bp 0.766686659259548 0.532351668921684 0.28375876 0.17643836 prediction 0.468669980675728 Functional Loss - HGSNAT ENSG00000165102 UTR3 Human protein_coding chr8:43055940 chr8:43055943 . . 0 24 hm5C_associated_SNPs_72321 1 Likely benign Sanfilippo syndrome RCV000336841.1
3875 chr19 17448961 17448961 1 + A C rs1864112 17448960 + 17448940 17448980 41 CCACGCCCTCCGAATTCTCACAGCACCCCGAGACCTGCCCC CCACGCCCTCCGAATTCTCACCGCACCCCGAGACCTGCCCC < 41bp 0.816530989821329 0.582324412180794 0.42946076 0.24594042 prediction 0.468413155281071 Functional Loss - GTPBP3 ENSG00000130299 CDS Human protein_coding chr19:17448960 chr19:17448961 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_72407 1 Benign not specified RCV000442852.1
3875 chr15 40764358 40764358 1 + C T BLCA 40764356 + 40764336 40764376 41 GGTGCTGGAGTGGGTACGGGCACCACCTCACGTCCGATTTC GGTGCTGGAGTGGGTACGGGCATCACCTCACGTCCGATTTC < 41bp 0.792579935666362 0.558487667194973 0.07525954 0.18993685 prediction 0.468184536942777 Functional Loss - CHST14 ENSG00000169105 CDS Human protein_coding chr15:40764356 chr15:40764358 nonsynonymous SNV 0.883 1 23 hm5C_associated_SNPs_72467 1 Uncertain significance not specified RCV000339432.1
3875 chr22 32211195 32211195 1 + C T UCEC 32211193 + 32211173 32211213 41 CTCCTTGGGATACACCAGCACTCGAGGTAAGAGTGCTGAAG CTCCTTGGGATACACCAGCACTTGAGGTAAGAGTGCTGAAG < 41bp 0.733971686600349 0.465855587376375 0.40055126 0.35263252 prediction 0.467943373200697 Functional Loss - DEPDC5 ENSG00000100150 CDS Human protein_coding chr22:32211193 chr22:32211195 stopgain 0.997 1 23 hm5C_associated_SNPs_72524 1 Pathogenic Epilepsy, familial focal, with variable foci 1 RCV000043580.3
3875 chr13 28498656 28498656 1 + G A rs137852787 28498653 + 28498633 28498673 41 GGGGTGGCGGGGTCGCGGAGCCTGAGCAGGACTGCGCCGTG GGGGTGGCGGGGTCGCGGAGCCTAAGCAGGACTGCGCCGTG < 41bp 0.754824021981451 0.520929655085609 0.8002128 0.52115405 prediction 0.467788733791685 Functional Loss - PDX1 ENSG00000139515 CDS Human protein_coding chr13:28498653 chr13:28498656 nonsynonymous SNV 0.635 3 24 hm5C_associated_SNPs_72577 2 Uncertain significance Maturity-onset diabetes of the young, type 4 RCV000009413.4
3875 chr13 28498656 28498656 1 + G A rs137852787 28498653 + 28498633 28498673 41 GGGGTGGCGGGGTCGCGGAGCCTGAGCAGGACTGCGCCGTG GGGGTGGCGGGGTCGCGGAGCCTAAGCAGGACTGCGCCGTG < 41bp 0.754824021981451 0.520929655085609 0.8002128 0.52115405 prediction 0.467788733791685 Functional Loss - PDX1 ENSG00000139515 CDS Human protein_coding chr13:28498653 chr13:28498656 nonsynonymous SNV 0.635 3 24 hm5C_associated_SNPs_72577 2 Benign Monogenic diabetes RCV000445478.1
3875 chr13 100635377 100635377 1 + C T rs1831992 100635375 + 100635355 100635395 41 GCTCCGAGAACCTCAAGATCCACAAAAGGACCCACACAGGT GCTCCGAGAACCTCAAGATCCATAAAAGGACCCACACAGGT < 41bp 0.733794935671767 0.479326993817525 0.011622012 0.020938545 prediction 0.467589871343534 Functional Loss - ZIC2 ENSG00000043355 CDS Human protein_coding chr13:100635375 chr13:100635377 synonymous SNV . 0 23 hm5C_associated_SNPs_72630 1 Benign not specified RCV000081471.5
3875 chr22 25623839 25623839 1 + G T rs16986560 25623836 + 25623816 25623856 41 GCAGCTGGGTGGGCTATGAACAGGCCAACTGCAAGGGCGAG GCAGCTGGGTGGGCTATGAACAGTCCAACTGCAAGGGCGAG < 41bp 0.733628238725857 0.325036265158913 0.92145324 0.39227235 prediction 0.467256477451713 Functional Loss - CRYBB2 ENSG00000244752 CDS Human protein_coding chr22:25623836 chr22:25623839 nonsynonymous SNV 0.986 0 24 hm5C_associated_SNPs_72722 1 Benign not specified RCV000247282.1
3875 chr19 11152105 11152105 1 + C T UCEC 11152103 + 11152083 11152123 41 CGACCACCAGCACCCGCAGCCGCGACAAGGACGACGAGAGC CGACCACCAGCACCCGCAGCCGTGACAAGGACGACGAGAGC < 41bp 0.733513262226146 0.474948924052216 0.58597463 0.23471615 prediction 0.467026524452293 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152103 chr19:11152105 synonymous SNV . 0 23 hm5C_associated_SNPs_72780 2 Likely benign Coffin-Siris syndrome RCV000297378.1
3875 chr19 11152105 11152105 1 + C T UCEC 11152103 + 11152083 11152123 41 CGACCACCAGCACCCGCAGCCGCGACAAGGACGACGAGAGC CGACCACCAGCACCCGCAGCCGTGACAAGGACGACGAGAGC < 41bp 0.733513262226146 0.474948924052216 0.58597463 0.23471615 prediction 0.467026524452293 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152103 chr19:11152105 synonymous SNV . 0 23 hm5C_associated_SNPs_72780 2 Benign Rhabdoid tumor predisposition syndrome 2 RCV000467435.1
3875 chr1 12065913 12065913 1 + C T STAD 12065911 + 12065891 12065931 41 ACATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTG ACATTGAGTTCCATTTCTCTCTTGGATGGACCATGCTGGTG < 41bp 0.831202672408207 0.597726891218139 0.032755196 0.1768114 prediction 0.466951562380137 Functional Loss - MFN2 ENSG00000116688 CDS Human protein_coding chr1:12065911 chr1:12065913 synonymous SNV . 0 23 hm5C_associated_SNPs_72806 2 other not specified RCV000126753.2
3875 chr1 12065913 12065913 1 + C T STAD 12065911 + 12065891 12065931 41 ACATTGAGTTCCATTTCTCTCTCGGATGGACCATGCTGGTG ACATTGAGTTCCATTTCTCTCTTGGATGGACCATGCTGGTG < 41bp 0.831202672408207 0.597726891218139 0.032755196 0.1768114 prediction 0.466951562380137 Functional Loss - MFN2 ENSG00000116688 CDS Human protein_coding chr1:12065911 chr1:12065913 synonymous SNV . 0 23 hm5C_associated_SNPs_72806 2 Benign Charcot-Marie-Tooth disease, type 2 RCV000197217.2
3875 chr7 157177592 157177592 1 + G A CESC 157177589 + 157177569 157177609 41 TCATTTGGGTCACTAGGTCACGGGGGCCTCACTTCATTCTC TCATTTGGGTCACTAGGTCACGGAGGCCTCACTTCATTCTC < 41bp 0.733473370390022 0.493480976051644 0.9052003 0.8699067 prediction 0.466946740780044 Functional Loss - DNAJB6 ENSG00000105993 CDS Human protein_coding chr7:157177589 chr7:157177592 synonymous SNV . 0 24 hm5C_associated_SNPs_72810 1 Uncertain significance not specified RCV000361175.1
3875 chr6 100061103 100061103 1 + G A UCEC 100061100 + 100061080 100061120 41 TCTCCCCAAAACCCCCGGCGCCCGATTTCGCCGCGCCTTCC TCTCCCCAAAACCCCCGGCGCCCAATTTCGCCGCGCCTTCC < 41bp 0.777047615593817 0.544064163264861 0.3888482 0.1590082 prediction 0.465966904657911 Functional Loss - PRDM13 ENSG00000112238 CDS Human protein_coding chr6:100061100 chr6:100061103 nonsynonymous SNV 0.031 1 24 hm5C_associated_SNPs_73084 1 Uncertain significance not specified RCV000489485.1
3875 chr21 45712255 45712255 1 + C T LIHC 45712253 + 45712233 45712273 41 GCAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCG GCAGCCCCGGGCAGAGGAGCCCTGGCCCCAGGAGCCACCCG < 41bp 0.73589196971308 0.502942712010111 0.6119132 0.50302976 prediction 0.465898515405937 Functional Loss - AIRE ENSG00000160224 CDS Human protein_coding chr21:45712253 chr21:45712255 nonsynonymous SNV 0.002 3 23 hm5C_associated_SNPs_73108 1 Uncertain significance not specified RCV000361358.1
3875 chrX 153663684 153663684 1 + G A UCEC 153663681 + 153663661 153663701 41 ACTGGTTTACCATGGAGCGCCTCGAAGTCCACAGCAATGGC ACTGGTTTACCATGGAGCGCCTCAAAGTCCACAGCAATGGC < 41bp 0.762397272935713 0.529542427014355 0.55303776 0.90079784 prediction 0.465709691842714 Functional Loss - ATP6AP1 ENSG00000071553 CDS Human protein_coding chrX:153663681 chrX:153663684 nonsynonymous SNV 0.910 2 24 hm5C_associated_SNPs_73164 1 Pathogenic Immunodeficiency due to ficolin 3 deficiency RCV000225332.2
3875 chr1 41285133 41285133 1 + T C UCEC 41285132 + 41285112 41285152 41 TCCTCCTACGCCGACTCGCTCTGGTGGGGGACGGTGCGTGA TCCTCCTACGCCGACTCGCTCCGGTGGGGGACGGTGCGTGA < 41bp 0.769416925211555 0.53660897483871 0.35579798 0.34702253 prediction 0.46561590074569 Functional Loss - KCNQ4 ENSG00000117013 CDS Human protein_coding chr1:41285132 chr1:41285133 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_73193 1 Pathogenic DFNA 2 Nonsyndromic Hearing Loss RCV000193712.1
3875 chr16 90002087 90002087 1 + G A STAD 90002089 - 90002069 90002109 41 TCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTC TCGTTCATGTTGCTCTCGGCCTTGGTGAACTCCATCTCGTC < 41bp 0.789440455094336 0.556692556594262 0.10623339 0.070002854 prediction 0.465495797000148 Functional Loss - TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:90002089 chr16:90002087 nonsynonymous SNV 0.998 3 23 hm5C_associated_SNPs_73244 2 Pathogenic Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement RCV000007382.4
3875 chr16 90002087 90002087 1 + G A STAD 90002089 - 90002069 90002109 41 TCGTTCATGTTGCTCTCGGCCTCGGTGAACTCCATCTCGTC TCGTTCATGTTGCTCTCGGCCTTGGTGAACTCCATCTCGTC < 41bp 0.789440455094336 0.556692556594262 0.10623339 0.070002854 prediction 0.465495797000148 Functional Loss - TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:90002089 chr16:90002087 nonsynonymous SNV 0.998 3 23 hm5C_associated_SNPs_73244 2 Pathogenic Cortical dysplasia, complex, with other brain malformations 1 RCV000194090.1
3875 chr20 61467613 61467613 1 + C T rs76559905 61467611 + 61467591 61467631 41 CCAGCGGTGTTCAGGGTGTCCCCGGGCCCCCCGGTCCTCTG CCAGCGGTGTTCAGGGTGTCCCTGGGCCCCCCGGTCCTCTG < 41bp 0.765147115341898 0.532522448555863 0.89820087 0.42013878 prediction 0.465249333572069 Functional Loss - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61467611 chr20:61467613 synonymous SNV . 0 23 hm5C_associated_SNPs_73309 2 Benign not specified RCV000247200.1
3875 chr20 61467613 61467613 1 + C T rs76559905 61467611 + 61467591 61467631 41 CCAGCGGTGTTCAGGGTGTCCCCGGGCCCCCCGGTCCTCTG CCAGCGGTGTTCAGGGTGTCCCTGGGCCCCCCGGTCCTCTG < 41bp 0.765147115341898 0.532522448555863 0.89820087 0.42013878 prediction 0.465249333572069 Functional Loss - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61467611 chr20:61467613 synonymous SNV . 0 23 hm5C_associated_SNPs_73309 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000386554.1
3875 chr4 15539713 15539713 1 + G A OV 15539710 + 15539690 15539730 41 CCTTGGGAGCCCACGCTGGTCCCGGAGCTAAGCCTGGCAGG CCTTGGGAGCCCACGCTGGTCCCAGAGCTAAGCCTGGCAGG < 41bp 0.7324170794759 0.49006719362331 0.7400096 0.27848065 prediction 0.464834158951799 Functional Loss - CC2D2A ENSG00000048342 CDS Human protein_coding chr4:15539710 chr4:15539713 synonymous SNV . 0 24 hm5C_associated_SNPs_73447 1 Uncertain significance not specified RCV000266234.1
3875 chr3 3170829 3170829 1 + C T rs368274081 3170827 + 3170807 3170847 41 TCACAATGAAGTTGCAGTCTCCCGAATTCCAGTCACTTTTC TCACAATGAAGTTGCAGTCTCCTGAATTCCAGTCACTTTTC < 41bp 0.834615934397391 0.602205086071807 0.12939945 0.068399906 prediction 0.464821696651169 Functional Loss - TRNT1 ENSG00000072756 CDS Human protein_coding chr3:3170827 chr3:3170829 synonymous SNV . 0 23 hm5C_associated_SNPs_73451 1 Likely benign not specified RCV000427097.1
3875 chr17 78084769 78084769 1 + G A rs1042396 78084766 + 78084746 78084786 41 AACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTG AACGAGCCTTCCAACTTCATCAGAGGCTCTGAGGACGGCTG < 41bp 0.782734213438458 0.550331010697152 0.9175676 0.87797993 prediction 0.464806405482612 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78084766 chr17:78084769 synonymous SNV . 0 24 hm5C_associated_SNPs_73458 2 Benign not specified RCV000078160.6
3875 chr17 78084769 78084769 1 + G A rs1042396 78084766 + 78084746 78084786 41 AACGAGCCTTCCAACTTCATCAGGGGCTCTGAGGACGGCTG AACGAGCCTTCCAACTTCATCAGAGGCTCTGAGGACGGCTG < 41bp 0.782734213438458 0.550331010697152 0.9175676 0.87797993 prediction 0.464806405482612 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78084766 chr17:78084769 synonymous SNV . 0 24 hm5C_associated_SNPs_73458 2 Likely benign Glycogen storage disease, type II RCV000301295.1
3875 chr19 50905762 50905762 1 + T C rs1143666 50905761 + 50905741 50905781 41 CAACTGGCTGGAGCTCCCAGCTGGGAAATACGCCCTGAGGC CAACTGGCTGGAGCTCCCAGCCGGGAAATACGCCCTGAGGC < 41bp 0.759051786880916 0.526910961033576 0.41736573 0.7891063 prediction 0.464281651694681 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905761 chr19:50905762 synonymous SNV . 0 22 hm5C_associated_SNPs_73609 1 Benign not specified RCV000433719.1
3875 chr9 103060228 103060228 1 + C T rs201136636 103060226 + 103060206 103060246 41 GGTTCATTTCAGGTTGTTCTCACGAAGGGAAAATACATCAT GGTTCATTTCAGGTTGTTCTCATGAAGGGAAAATACATCAT < 41bp 0.834003167498333 0.601924345892611 0.26269656 0.3176087 prediction 0.464157643211443 Functional Loss - INVS ENSG00000119509 CDS Human protein_coding chr9:103060226 chr9:103060228 synonymous SNV . 0 23 hm5C_associated_SNPs_73653 1 Uncertain significance Nephronophthisis RCV000407399.1
3875 chr18 9102712 9102712 1 + G T rs139650842 9102709 + 9102689 9102729 41 CGCTCGGGATTCTCGCCTGGCGCGGCTGGGGAAGGTGAACA CGCTCGGGATTCTCGCCTGGCGCTGCTGGGGAAGGTGAACA < 41bp 0.851208429556001 0.619271890108992 0.334028 0.18656063 prediction 0.463873078894017 Functional Loss - NDUFV2 ENSG00000178127 UTR5 Human protein_coding chr18:9102709 chr18:9102712 . . 0 24 hm5C_associated_SNPs_73745 1 Uncertain significance Mitochondrial complex I deficiency RCV000370310.1
3875 chr9 98231285 98231285 1 + C T STAD 98231288 - 98231268 98231308 41 CAGTCCACTGTCCAGCTCCGCACGGAGTACGACCCCCACAC CAGTCCACTGTCCAGCTCCGCACAGAGTACGACCCCCACAC < 41bp 0.735430420608416 0.503508616244714 0.41739333 0.07157463 prediction 0.463843608727405 Functional Loss - PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231288 chr9:98231285 synonymous SNV . 0 24 hm5C_associated_SNPs_73757 1 Uncertain significance Gorlin syndrome RCV000457997.1
3875 chr9 133346226 133346226 1 + C T rs10901072 133346224 + 133346204 133346244 41 CTGTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTC CTGTCTCTTTCCTGCAGCAACATGGGATTCCCATCCCGGTC < 41bp 0.806980385644868 0.575070359622191 0.48099864 0.79995126 prediction 0.463820052045354 Functional Loss - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133346224 chr9:133346226 synonymous SNV . 0 23 hm5C_associated_SNPs_73767 2 other not specified RCV000078021.9
3875 chr9 133346226 133346226 1 + C T rs10901072 133346224 + 133346204 133346244 41 CTGTCTCTTTCCTGCAGCAACACGGGATTCCCATCCCGGTC CTGTCTCTTTCCTGCAGCAACATGGGATTCCCATCCCGGTC < 41bp 0.806980385644868 0.575070359622191 0.48099864 0.79995126 prediction 0.463820052045354 Functional Loss - ASS1 ENSG00000130707 CDS Human protein_coding chr9:133346224 chr9:133346226 synonymous SNV . 0 23 hm5C_associated_SNPs_73767 2 Likely benign Citrullinemia type I RCV000276414.1
3875 chr2 1481355 1481355 1 + G A rs28910598 1481352 + 1481332 1481372 41 GCCGTGTACCAGGAGGCGCGCAAGGTCGTGGGCGCTCTGCA GCCGTGTACCAGGAGGCGCGCAAAGTCGTGGGCGCTCTGCA < 41bp 0.731473499809756 0.49034757458359 0.89962995 0.34131515 prediction 0.462946999619512 Functional Loss - TPO ENSG00000115705 CDS Human protein_coding chr2:1481352 chr2:1481355 synonymous SNV . 0 24 hm5C_associated_SNPs_74068 1 Uncertain significance Congenital hypothyroidism RCV000275870.1
3875 chr7 55229255 55229255 1 + G A rs2227983 55229252 + 55229232 55229272 41 GGGCTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCC GGGCTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCC < 41bp 0.74841351569392 0.516975456282507 0.9018718 0.45080572 prediction 0.462876118822828 Functional Loss - EGFR ENSG00000146648 CDS Human protein_coding chr7:55229252 chr7:55229255 nonsynonymous SNV 0.247 0 24 hm5C_associated_SNPs_74095 2 Benign not specified RCV000120690.2
3875 chr7 55229255 55229255 1 + G A rs2227983 55229252 + 55229232 55229272 41 GGGCTGCTGGGGCCCGGAGCCCAGGGACTGCGTCTCTTGCC GGGCTGCTGGGGCCCGGAGCCCAAGGACTGCGTCTCTTGCC < 41bp 0.74841351569392 0.516975456282507 0.9018718 0.45080572 prediction 0.462876118822828 Functional Loss - EGFR ENSG00000146648 CDS Human protein_coding chr7:55229252 chr7:55229255 nonsynonymous SNV 0.247 0 24 hm5C_associated_SNPs_74095 2 Likely benign Lung cancer RCV000314920.1
3875 chr4 151504332 151504332 1 + C T UCEC 151504330 + 151504310 151504350 41 GGAAGTGGAGGTGCAGGAGCCTCGCTTCATCAGCTCCTTGA GGAAGTGGAGGTGCAGGAGCCTTGCTTCATCAGCTCCTTGA < 41bp 0.792830042751829 0.561410966317532 0.439538 0.33604276 prediction 0.462838152868595 Functional Loss - MAB21L2 ENSG00000181541 CDS Human protein_coding chr4:151504330 chr4:151504332 nonsynonymous SNV 0.996 4 23 hm5C_associated_SNPs_74107 1 other Microphthalmia/coloboma and skeletal dysplasia syndrome RCV000128564.3
3875 chr10 81371698 81371698 1 + C T rs72659390 81371696 + 81371676 81371716 41 TCCCCGGCACTCCTGGATCCCACGGCCTGCCAGGCAGGGAC TCCCCGGCACTCCTGGATCCCATGGCCTGCCAGGCAGGGAC < 41bp 0.731340336607792 0.479051799598764 0.49855167 0.51856107 prediction 0.462680673215583 Functional Loss - SFTPA1 ENSG00000122852 CDS Human protein_coding chr10:81371696 chr10:81371698 synonymous SNV . 0 23 hm5C_associated_SNPs_74150 1 Benign not specified RCV000214373.1
3875 chr1 2235825 2235825 1 + C T TGCT 2235823 + 2235803 2235843 41 CCGGGTGCGCGTGCCCTGCCCTCGGCCGTCCCTGATGCTGC CCGGGTGCGCGTGCCCTGCCCTTGGCCGTCCCTGATGCTGC < 41bp 0.795939321992433 0.564612926957247 0.19261497 0.184939 prediction 0.462652790070371 Functional Loss - SKI ENSG00000157933 CDS Human protein_coding chr1:2235823 chr1:2235825 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_74157 1 Uncertain significance Arterial dissection RCV000157499.1
3875 chr14 76045858 76045858 1 + G A rs2287016 76045855 + 76045835 76045875 41 CCGCATCTCTTTCCGGTCACCGTGGTGGGCCAGCTCATCTG CCGCATCTCTTTCCGGTCACCGTAGTGGGCCAGCTCATCTG < 41bp 0.778225157629811 0.546953403262015 0.7698257 0.67355746 prediction 0.462543508735592 Functional Loss - FLVCR2 ENSG00000119686 CDS Human protein_coding chr14:76045855 chr14:76045858 synonymous SNV . 0 24 hm5C_associated_SNPs_74193 2 Benign not specified RCV000081865.4
3875 chr14 76045858 76045858 1 + G A rs2287016 76045855 + 76045835 76045875 41 CCGCATCTCTTTCCGGTCACCGTGGTGGGCCAGCTCATCTG CCGCATCTCTTTCCGGTCACCGTAGTGGGCCAGCTCATCTG < 41bp 0.778225157629811 0.546953403262015 0.7698257 0.67355746 prediction 0.462543508735592 Functional Loss - FLVCR2 ENSG00000119686 CDS Human protein_coding chr14:76045855 chr14:76045858 synonymous SNV . 0 24 hm5C_associated_SNPs_74193 2 Benign Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome RCV000373082.1
3875 chr6 3225993 3225993 1 + G A rs141251993 3225990 + 3225970 3226010 41 TCCAGGACCGAGTCGACCAGCTCGGCTCCCTCTGTGTAGTG TCCAGGACCGAGTCGACCAGCTCAGCTCCCTCTGTGTAGTG < 41bp 0.742527037389827 0.511317694630948 0.16143665 0.12016973 prediction 0.462418685517757 Functional Loss - TUBB2B ENSG00000137285 CDS Human protein_coding chr6:3225990 chr6:3225993 synonymous SNV . 0 24 hm5C_associated_SNPs_74220 1 other not specified RCV000147836.3
3875 chr9 2718415 2718415 1 + G A rs74587818 2718412 + 2718392 2718432 41 ACGAGCTGCGCGCGCAGGCGCAGGTCGAGGAGGCGGAGGAA ACGAGCTGCGCGCGCAGGCGCAGATCGAGGAGGCGGAGGAA < 41bp 0.789636408369007 0.558498229422317 0.8216593 0.42247933 prediction 0.462276357893379 Functional Loss - KCNV2 ENSG00000168263 CDS Human protein_coding chr9:2718412 chr9:2718415 nonsynonymous SNV 0.216 1 24 hm5C_associated_SNPs_74270 2 Benign not specified RCV000082509.4
3875 chr9 2718415 2718415 1 + G A rs74587818 2718412 + 2718392 2718432 41 ACGAGCTGCGCGCGCAGGCGCAGGTCGAGGAGGCGGAGGAA ACGAGCTGCGCGCGCAGGCGCAGATCGAGGAGGCGGAGGAA < 41bp 0.789636408369007 0.558498229422317 0.8216593 0.42247933 prediction 0.462276357893379 Functional Loss - KCNV2 ENSG00000168263 CDS Human protein_coding chr9:2718412 chr9:2718415 nonsynonymous SNV 0.216 1 24 hm5C_associated_SNPs_74270 2 Likely benign Cone dystrophy 3 RCV000300854.1
3875 chr3 39431077 39431077 1 + G A GBM 39431074 + 39431054 39431094 41 ACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGC ACCTCTGGATCTCCTTAAAACACACCTGCAAACCCTCCAGC < 41bp 0.731103598045794 0.481734682311473 0.20795798 0.032866985 prediction 0.462207196091589 Functional Loss - SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431074 chr3:39431077 nonsynonymous SNV 0.987 4 24 hm5C_associated_SNPs_74304 2 Uncertain significance Refractory anemia with ringed sideroblasts (clinical) RCV000262660.1
3875 chr3 39431077 39431077 1 + G A GBM 39431074 + 39431054 39431094 41 ACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAGC ACCTCTGGATCTCCTTAAAACACACCTGCAAACCCTCCAGC < 41bp 0.731103598045794 0.481734682311473 0.20795798 0.032866985 prediction 0.462207196091589 Functional Loss - SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431074 chr3:39431077 nonsynonymous SNV 0.987 4 24 hm5C_associated_SNPs_74304 2 Uncertain significance Hereditary sideroblastic anemia RCV000357294.1
3875 chr10 50856652 50856652 1 + G A rs4838544 50856649 + 50856629 50856669 41 GCACTGAGCATCTGCTCAAGCACGTGTGAGTCTGGATCCCA GCACTGAGCATCTGCTCAAGCACATGTGAGTCTGGATCCCA < 41bp 0.730827436943688 0.49129231389969 0.26917905 0.23266158 prediction 0.461654873887376 Functional Loss - CHAT ENSG00000070748 CDS Human protein_coding chr10:50856649 chr10:50856652 nonsynonymous SNV 0.996 1 24 hm5C_associated_SNPs_74463 1 Benign not specified RCV000180671.1
3875 chr16 55527113 55527113 1 + G A rs2287074 55527110 + 55527090 55527130 41 CTTGGCACCGGCCCCACCCCCACGCTGGGCCCTGTCACTCC CTTGGCACCGGCCCCACCCCCACACTGGGCCCTGTCACTCC < 41bp 0.730632225831716 0.476842730167119 0.17009005 0.15579632 prediction 0.461264451663433 Functional Loss - MMP2 ENSG00000087245 CDS Human protein_coding chr16:55527110 chr16:55527113 synonymous SNV . 0 24 hm5C_associated_SNPs_74569 1 Benign Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000394276.1
3875 chr9 103054850 103054850 1 + G A rs115754570 103054847 + 103054827 103054867 41 CAGCTGCAAGCCTTCCACCGCACGATAGCCACTGGAAGCCC CAGCTGCAAGCCTTCCACCGCACAATAGCCACTGGAAGCCC < 41bp 0.777188790810931 0.546585700718257 0.6629715 0.3023075 prediction 0.461206180185347 Functional Loss - INVS ENSG00000119509 CDS Human protein_coding chr9:103054847 chr9:103054850 nonsynonymous SNV 0.000 0 24 hm5C_associated_SNPs_74590 1 Uncertain significance not specified RCV000174771.1
3875 chr17 7591997 7591997 1 + C T rs17880282 7591995 + 7591975 7592015 41 TTTGGAGACTCAACCGTTAGCTCCGGACTGCTGTCCTTCAG TTTGGAGACTCAACCGTTAGCTTCGGACTGCTGTCCTTCAG < 41bp 0.774940580437142 0.544362923699823 0.32715714 0.2611558 prediction 0.461155313474638 Functional Loss - WRAP53 ENSG00000141499 CDS Human protein_coding chr17:7591995 chr17:7591997 nonsynonymous SNV 0.201 1 23 hm5C_associated_SNPs_74614 2 Likely benign Li-Fraumeni syndrome RCV000297658.1
3875 chr17 7591997 7591997 1 + C T rs17880282 7591995 + 7591975 7592015 41 TTTGGAGACTCAACCGTTAGCTCCGGACTGCTGTCCTTCAG TTTGGAGACTCAACCGTTAGCTTCGGACTGCTGTCCTTCAG < 41bp 0.774940580437142 0.544362923699823 0.32715714 0.2611558 prediction 0.461155313474638 Functional Loss - WRAP53 ENSG00000141499 CDS Human protein_coding chr17:7591995 chr17:7591997 nonsynonymous SNV 0.201 1 23 hm5C_associated_SNPs_74614 2 Likely benign Dyskeratosis Congenita, Recessive RCV000324830.1
3875 chr11 64361020 64361020 1 + C T CESC 64361018 + 64360998 64361038 41 GTGGCAGGCGTCATGATGAACACGGGCACTCTCCGTAGGTC GTGGCAGGCGTCATGATGAACATGGGCACTCTCCGTAGGTC < 41bp 0.770810691583768 0.540410797815928 0.8594417 0.77986825 prediction 0.460799787535679 Functional Loss - SLC22A12 ENSG00000197891 CDS Human protein_coding chr11:64361018 chr11:64361020 nonsynonymous SNV 0.515 2 23 hm5C_associated_SNPs_74728 1 Pathogenic Familial renal hypouricemia RCV000003690.3
3875 chr15 64448304 64448304 1 + C T UCEC 64448302 + 64448282 64448322 41 CACATCCTTCAGGGGTTTATCCCGGCTGTCTGTCTTGGTGC CACATCCTTCAGGGGTTTATCCTGGCTGTCTGTCTTGGTGC < 41bp 0.730413979248322 0.500023193723198 0.9438845 0.9429765 prediction 0.460781571050247 Functional Loss - PPIB ENSG00000166794 CDS Human protein_coding chr15:64448302 chr15:64448304 nonsynonymous SNV 0.991 2 23 hm5C_associated_SNPs_74736 1 Uncertain significance not specified RCV000202830.1
3875 chr22 50962514 50962514 1 + G A rs75485962 50962516 - 50962496 50962536 41 GCGACTTCCACCTGCTGGATCACAGAGGCCGGGCTCGCTGC GCGACTTCCACCTGCTGGATCATAGAGGCCGGGCTCGCTGC < 41bp 0.758319945609576 0.528019853953132 0.27265137 0.340423 prediction 0.46060018331289 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962516 chr22:50962514 synonymous SNV . 0 23 hm5C_associated_SNPs_74795 4 Benign not specified RCV000128014.1
3875 chr22 50962514 50962514 1 + G A rs75485962 50962516 - 50962496 50962536 41 GCGACTTCCACCTGCTGGATCACAGAGGCCGGGCTCGCTGC GCGACTTCCACCTGCTGGATCATAGAGGCCGGGCTCGCTGC < 41bp 0.758319945609576 0.528019853953132 0.27265137 0.340423 prediction 0.46060018331289 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962516 chr22:50962514 synonymous SNV . 0 23 hm5C_associated_SNPs_74795 4 Likely benign Cytochrome-c oxidase deficiency RCV000310916.1
3875 chr22 50962514 50962514 1 + G A rs75485962 50962516 - 50962496 50962536 41 GCGACTTCCACCTGCTGGATCACAGAGGCCGGGCTCGCTGC GCGACTTCCACCTGCTGGATCATAGAGGCCGGGCTCGCTGC < 41bp 0.758319945609576 0.528019853953132 0.27265137 0.340423 prediction 0.46060018331289 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962516 chr22:50962514 synonymous SNV . 0 23 hm5C_associated_SNPs_74795 4 Likely benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) RCV000365573.1
3875 chr22 50962514 50962514 1 + G A rs75485962 50962516 - 50962496 50962536 41 GCGACTTCCACCTGCTGGATCACAGAGGCCGGGCTCGCTGC GCGACTTCCACCTGCTGGATCATAGAGGCCGGGCTCGCTGC < 41bp 0.758319945609576 0.528019853953132 0.27265137 0.340423 prediction 0.46060018331289 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962516 chr22:50962514 synonymous SNV . 0 23 hm5C_associated_SNPs_74795 4 Likely benign Fatal Infantile Cardioencephalomyopathy RCV000370305.1
3875 chr7 107302103 107302103 1 + G T rs111033423 107302101 + 107302081 107302121 41 CAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCA CAGGTCATGGCAGCGCCAGGCGTCAGGTCGGAGCCGCCGCA < 41bp 0.905172247483729 0.67499872800389 0.88933086 0.5390629 prediction 0.460347038959678 Functional Loss - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107302101 chr7:107302103 nonsynonymous SNV 0.782 1 23 hm5C_associated_SNPs_74888 2 Likely benign not specified RCV000036459.2
3875 chr7 107302103 107302103 1 + G T rs111033423 107302101 + 107302081 107302121 41 CAGGTCATGGCAGCGCCAGGCGGCAGGTCGGAGCCGCCGCA CAGGTCATGGCAGCGCCAGGCGTCAGGTCGGAGCCGCCGCA < 41bp 0.905172247483729 0.67499872800389 0.88933086 0.5390629 prediction 0.460347038959678 Functional Loss - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107302101 chr7:107302103 nonsynonymous SNV 0.782 1 23 hm5C_associated_SNPs_74888 2 Likely benign Pendred's syndrome RCV000169379.1
3875 chrX 38268220 38268220 1 + A C rs1800328 38268219 + 38268199 38268239 41 ACACTTGGATAAGCATGGGACAAGAAGAGGAGAAGAAAAAG ACACTTGGATAAGCATGGGACCAGAAGAGGAGAAGAAAAAG < 41bp 0.730073937168988 0.471352495748622 0.3234982 0.35210812 prediction 0.460147874337976 Functional Loss - OTC ENSG00000036473 CDS Human protein_coding chrX:38268219 chrX:38268220 nonsynonymous SNV 1.000 3 22 hm5C_associated_SNPs_74955 1 Pathogenic not provided RCV000083583.1
3875 chr9 27220066 27220066 1 + G A rs2273719 27220063 + 27220043 27220083 41 CCAGGAGGCACACCCTACTGCGGGATGACTTGTGCAGAACT CCAGGAGGCACACCCTACTGCGGAATGACTTGTGCAGAACT < 41bp 0.737236135644168 0.507195532155719 0.8954948 0.72624767 prediction 0.460081206976898 Functional Loss - TEK ENSG00000120156 CDS Human protein_coding chr9:27220063 chr9:27220066 synonymous SNV . 0 24 hm5C_associated_SNPs_74972 1 Benign Multiple Cutaneous and Mucosal Venous Malformations RCV000291810.1
3875 chr9 136412255 136412255 1 + A C rs2073876 136412254 + 136412234 136412274 41 GCAGGCACGGTGGTCAAGTACAGGCGGCCCATGGATGTCTA GCAGGCACGGTGGTCAAGTACCGGCGGCCCATGGATGTCTA < 41bp 0.729928052912599 0.459562404978974 0.4893569 0.8430074 prediction 0.459856105825197 Functional Loss - ADAMTSL2 ENSG00000197859 CDS Human protein_coding chr9:136412254 chr9:136412255 synonymous SNV . 0 22 hm5C_associated_SNPs_75051 1 Benign Geleophysic dysplasia RCV000397418.1
3875 chrX 49104943 49104943 1 + G A rs144632022 49104940 + 49104920 49104960 41 AGAAGCACCGGGTCCCACTCCTCGCTGAGTACCGCCACCTC AGAAGCACCGGGTCCCACTCCTCACTGAGTACCGCCACCTC < 41bp 0.7298500158573 0.481367252093819 0.5927183 0.06363624 prediction 0.459700031714599 Functional Loss - CCDC22 ENSG00000101997 CDS Human protein_coding chrX:49104940 chrX:49104943 nonsynonymous SNV 0.804 1 24 hm5C_associated_SNPs_75100 1 Benign not specified RCV000081579.4
3875 chr2 216209508 216209508 1 + G A rs141872658 216209505 + 216209485 216209525 41 TTGTGTATGTGTTTCAGTTGCCAGAGTCTGCCCTCCGAGAC TTGTGTATGTGTTTCAGTTGCCAAAGTCTGCCCTCCGAGAC < 41bp 0.729799704777713 0.483321221874879 0.5369257 0.19059461 prediction 0.459599409555425 Functional Loss - ATIC ENSG00000138363 CDS Human protein_coding chr2:216209505 chr2:216209508 nonsynonymous SNV 0.392 1 24 hm5C_associated_SNPs_75139 1 Likely benign not provided RCV000441319.1
3875 chr6 44275060 44275060 1 + G A COAD 44275057 + 44275037 44275077 41 GTGCGGATGTGGTCAGCCACCACGCGGTACGCTGTGTCTGT GTGCGGATGTGGTCAGCCACCACACGGTACGCTGTGTCTGT < 41bp 0.729710817975525 0.482173372257991 0.1287184 0.025568634 prediction 0.459421635951049 Functional Loss - AARS2 ENSG00000124608 CDS Human protein_coding chr6:44275057 chr6:44275060 synonymous SNV . 0 24 hm5C_associated_SNPs_75204 1 Likely benign not specified RCV000439888.1
3875 chr18 72998124 72998124 1 + G A rs79904500 72998121 + 72998101 72998141 41 CGGTGCAAAGACTGCAGTGCCGCGTACGACACGCTGGTGGA CGGTGCAAAGACTGCAGTGCCGCATACGACACGCTGGTGGA < 41bp 0.729690542243324 0.488874149474824 0.38588715 0.05241248 prediction 0.459381084486649 Functional Loss - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72998121 chr18:72998124 synonymous SNV . 0 24 hm5C_associated_SNPs_75219 1 Likely benign Aural atresia, congenital RCV000394682.1
3875 chr17 78081661 78081661 1 + A T rs1800303 78081657 + 78081637 78081677 41 GGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGC GGCGCTGGAGGACGGCGGGTCGGCTCACGGGGTGTTCCTGC < 41bp 0.88691260632695 0.657226932372312 0.9228476 0.5830205 prediction 0.459371347909277 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78081657 chr17:78081661 synonymous SNV . 0 25 hm5C_associated_SNPs_75224 2 Benign not specified RCV000078187.6
3875 chr17 78081661 78081661 1 + A T rs1800303 78081657 + 78081637 78081677 41 GGCGCTGGAGGACGGCGGGTCGGCACACGGGGTGTTCCTGC GGCGCTGGAGGACGGCGGGTCGGCTCACGGGGTGTTCCTGC < 41bp 0.88691260632695 0.657226932372312 0.9228476 0.5830205 prediction 0.459371347909277 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78081657 chr17:78081661 synonymous SNV . 0 25 hm5C_associated_SNPs_75224 2 Likely benign Glycogen storage disease, type II RCV000376333.1
3875 chr13 41363610 41363610 1 + G C rs191621874 41363606 + 41363586 41363626 41 GGTCTCGGCTCGGGCACGGCCCTGGGCAGGCCGCCCGCCAG GGTCTCGGCTCGGGCACGGCCCTGCGCAGGCCGCCCGCCAG < 41bp 0.826628060495169 0.596999308358752 0.83857524 0.45092985 prediction 0.459257504272834 Functional Loss - SLC25A15 ENSG00000102743 upstream Human protein_coding chr13:41363606 chr13:41363610 . . 0 25 hm5C_associated_SNPs_75273 1 Likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000347934.1
3875 chr8 30891288 30891288 1 + G C rs11574157 30891287 + 30891267 30891307 41 AGGAACGGGGGCGGGGACGGCGCTGGAGGGGCGGGTCGGGT AGGAACGGGGGCGGGGACGGCCCTGGAGGGGCGGGTCGGGT < 41bp 0.7295099368865 0.474431569877487 0.8969984 0.5904362 prediction 0.459019873773 Functional Loss - WRN ENSG00000165392;ENSG00000172733 upstream Human other chr8:30891287 chr8:30891288 . . 0 22 hm5C_associated_SNPs_75366 1 Likely benign Werner syndrome RCV000261551.1
3875 chr21 47552006 47552006 1 + G A rs61735831 47552003 + 47551983 47552023 41 GGCGCGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTC GGCGCGGCGGCTGACGCTGGCCCAGAGGGACGACGACCCTC < 41bp 0.768279111897912 0.539346367975169 0.4111124 0.24771589 prediction 0.457865487845484 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552003 chr21:47552006 nonsynonymous SNV 0.003 1 24 hm5C_associated_SNPs_75776 1 Likely benign not specified RCV000250264.3
3875 chr2 219677673 219677673 1 + G A rs190012697 219677670 + 219677650 219677690 41 AGAAGCTGATTGATGAGAAGCTCGAAGATATGGAGGCCCAA AGAAGCTGATTGATGAGAAGCTCAAAGATATGGAGGCCCAA < 41bp 0.774836925171332 0.545921133414236 0.25357643 0.28771248 prediction 0.457831583514192 Functional Loss - CYP27A1 ENSG00000135929 CDS Human protein_coding chr2:219677670 chr2:219677673 nonsynonymous SNV 0.043 0 24 hm5C_associated_SNPs_75790 1 Uncertain significance Cholestanol storage disease RCV000353347.1
3875 chr19 50905725 50905725 1 + C T rs76131127 50905723 + 50905703 50905743 41 CCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAA CCCTCCAGGTTCATGGTGGACATGGACATCGTCGGCTGCAA < 41bp 0.801837013943032 0.573122041148808 0.3847888 0.5111069 prediction 0.457429945588448 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905723 chr19:50905725 nonsynonymous SNV 0.270 0 23 hm5C_associated_SNPs_75939 2 Benign Colorectal cancer 10 RCV000206076.3
3875 chr19 50905725 50905725 1 + C T rs76131127 50905723 + 50905703 50905743 41 CCCTCCAGGTTCATGGTGGACACGGACATCGTCGGCTGCAA CCCTCCAGGTTCATGGTGGACATGGACATCGTCGGCTGCAA < 41bp 0.801837013943032 0.573122041148808 0.3847888 0.5111069 prediction 0.457429945588448 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905723 chr19:50905725 nonsynonymous SNV 0.270 0 23 hm5C_associated_SNPs_75939 2 Likely benign not specified RCV000431487.1
3875 chrX 123042989 123042989 1 + G A rs41309540 123042986 + 123042966 123043006 41 CCTTCTGGGTTCAAGCGATTCTCGTGCCTCAGCTTCCTGAG CCTTCTGGGTTCAAGCGATTCTCATGCCTCAGCTTCCTGAG < 41bp 0.728647952386848 0.489263585240533 0.23067695 0.11525962 prediction 0.457295904773697 Functional Loss - XIAP ENSG00000101966 UTR3 Human protein_coding chrX:123042986 chrX:123042989 . . 0 24 hm5C_associated_SNPs_75982 1 Benign Lymphoproliferative syndrome RCV000276604.1
3875 chr22 24919696 24919696 1 + C T SKCM 24919694 + 24919674 24919714 41 ATGGACTGCTAGTTGCTAAGCTCGACCTAAACCTCTGCCAG ATGGACTGCTAGTTGCTAAGCTTGACCTAAACCTCTGCCAG < 41bp 0.85064139044716 0.622102735404813 0.1125322 0.08821428 prediction 0.457077310084694 Functional Loss - UPB1 ENSG00000100024 CDS Human protein_coding chr22:24919694 chr22:24919696 synonymous SNV . 0 23 hm5C_associated_SNPs_76039 1 Uncertain significance Deficiency of beta-ureidopropionase RCV000271862.1
3875 chr7 66104098 66104098 1 + C T ESCA 66104096 + 66104076 66104116 41 GACCTGCTGCACTGCCTGGTCACGGACCTCTCGGCCCAGGG GACCTGCTGCACTGCCTGGTCATGGACCTCTCGGCCCAGGG < 41bp 0.813997059214512 0.58549730070766 0.33160383 0.0949412 prediction 0.456999517013705 Functional Loss - KCTD7 ENSG00000243335 CDS Human protein_coding chr7:66104096 chr7:66104098 nonsynonymous SNV 0.998 1 23 hm5C_associated_SNPs_76058 1 Uncertain significance Progressive myoclonic epilepsy RCV000289910.1
3875 chr9 136319600 136319600 1 + G A rs34934621 136319597 + 136319577 136319617 41 GGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCT GGCCTTGGCACTGCTAGACGCTCAGTGGCCTGTGTGCAGCT < 41bp 0.728484620452513 0.489933541849463 0.14330438 0.07039496 prediction 0.456969240905026 Functional Loss - ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136319597 chr9:136319600 synonymous SNV . 0 24 hm5C_associated_SNPs_76069 2 Benign not specified RCV000245216.1
3875 chr9 136319600 136319600 1 + G A rs34934621 136319597 + 136319577 136319617 41 GGCCTTGGCACTGCTAGACGCTCGGTGGCCTGTGTGCAGCT GGCCTTGGCACTGCTAGACGCTCAGTGGCCTGTGTGCAGCT < 41bp 0.728484620452513 0.489933541849463 0.14330438 0.07039496 prediction 0.456969240905026 Functional Loss - ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136319597 chr9:136319600 synonymous SNV . 0 24 hm5C_associated_SNPs_76069 2 Likely benign Upshaw-Schulman syndrome RCV000403700.1
3875 chr7 34118638 34118638 1 + G A rs199800567 34118635 + 34118615 34118655 41 GCCCGCCGGACACGCTCCTTCTCGTGGACCAAGTCGGTGGA GCCCGCCGGACACGCTCCTTCTCATGGACCAAGTCGGTGGA < 41bp 0.779707807315741 0.551255696171284 0.39034235 0.21926695 prediction 0.456904222288913 Functional Loss - BMPER ENSG00000164619 CDS Human protein_coding chr7:34118635 chr7:34118638 synonymous SNV . 0 24 hm5C_associated_SNPs_76081 1 Uncertain significance Diaphanospondylodysostosis RCV000317601.1
3875 chr10 43600550 43600550 1 + C T SKCM 43600548 + 43600528 43600568 41 GAGGTGGTGATGGTGCCCTTCCCGGTGACCGTGTACGACGA GAGGTGGTGATGGTGCCCTTCCTGGTGACCGTGTACGACGA < 41bp 0.728059355714277 0.456802034668196 0.34280285 0.20693135 prediction 0.456118711428554 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43600548 chr10:43600550 nonsynonymous SNV 0.219 0 23 hm5C_associated_SNPs_76320 1 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000459798.1
3875 chr15 89820093 89820093 1 + G A UCEC 89820090 + 89820070 89820110 41 CAAACCAGCATGCATGTAAGCTCGGAGCTAATATCCTGTTG CAAACCAGCATGCATGTAAGCTCAGAGCTAATATCCTGTTG < 41bp 0.727913693601497 0.498279562909801 0.12306556 0.11692512 prediction 0.455827387202995 Functional Loss - FANCI ENSG00000140525 CDS Human protein_coding chr15:89820090 chr15:89820093 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_76409 1 Uncertain significance Fanconi anemia RCV000472649.1
3875 chr12 112915738 112915738 1 + G A STAD 112915735 + 112915715 112915755 41 ACACAAGGCTGCCTGCAAAACACGGTGAATGACTTTTGGCG ACACAAGGCTGCCTGCAAAACACAGTGAATGACTTTTGGCG < 41bp 0.752594584439261 0.524693697332669 0.2822591 0.14308453 prediction 0.455801774213183 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915735 chr12:112915738 synonymous SNV . 0 24 hm5C_associated_SNPs_76415 1 Likely benign not specified RCV000252825.2
3875 chr12 12870877 12870877 1 + C T SKCM 12870875 + 12870855 12870895 41 GCCTGCAGGAACCTCTTCGGCCCGGTGGACCACGAAGAGTT GCCTGCAGGAACCTCTTCGGCCTGGTGGACCACGAAGAGTT < 41bp 0.72722140701038 0.470883354848078 0.42432845 0.32820433 prediction 0.454442814020759 Functional Loss - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870875 chr12:12870877 nonsynonymous SNV 0.997 5 23 hm5C_associated_SNPs_76877 1 Uncertain significance Multiple endocrine neoplasia, type 4 RCV000469778.1
3875 chr2 138771444 138771444 1 + T C STAD 138771443 + 138771423 138771463 41 CAGATGACCTCACTCAGATGCTGGACAACCTAGGGCTTAAG CAGATGACCTCACTCAGATGCCGGACAACCTAGGGCTTAAG < 41bp 0.772933027436475 0.5457303319823 0.31070822 0.24543118 prediction 0.45440539090835 Functional Loss - HNMT ENSG00000150540 CDS Human protein_coding chr2:138771443 chr2:138771444 nonsynonymous SNV 0.650 4 22 hm5C_associated_SNPs_76893 1 Pathogenic Mental retardation, autosomal recessive 51 RCV000203542.2
3875 chr17 7577518 7577518 1 + T A BRCA 7577522 - 7577502 7577542 41 AACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTC AACCGGAGGCCCATCCTCACCATCTTCACACTGGAAGACTC < 41bp 0.727111434268705 0.418073061961041 0.06403765 0.10579181 prediction 0.454222868537411 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577522 chr17:7577518 nonsynonymous SNV 0.948 4 25 hm5C_associated_SNPs_76942 7 Likely pathogenic Neoplasm of brain RCV000418615.1
3875 chr17 7577518 7577518 1 + T A BRCA 7577522 - 7577502 7577542 41 AACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTC AACCGGAGGCCCATCCTCACCATCTTCACACTGGAAGACTC < 41bp 0.727111434268705 0.418073061961041 0.06403765 0.10579181 prediction 0.454222868537411 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577522 chr17:7577518 nonsynonymous SNV 0.948 4 25 hm5C_associated_SNPs_76942 7 Likely pathogenic Adenocarcinoma of lung RCV000425759.1
3875 chr17 7577518 7577518 1 + T A BRCA 7577522 - 7577502 7577542 41 AACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTC AACCGGAGGCCCATCCTCACCATCTTCACACTGGAAGACTC < 41bp 0.727111434268705 0.418073061961041 0.06403765 0.10579181 prediction 0.454222868537411 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577522 chr17:7577518 nonsynonymous SNV 0.948 4 25 hm5C_associated_SNPs_76942 7 Likely pathogenic Neoplasm of the breast RCV000428426.1
3875 chr17 7577518 7577518 1 + T A BRCA 7577522 - 7577502 7577542 41 AACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTC AACCGGAGGCCCATCCTCACCATCTTCACACTGGAAGACTC < 41bp 0.727111434268705 0.418073061961041 0.06403765 0.10579181 prediction 0.454222868537411 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577522 chr17:7577518 nonsynonymous SNV 0.948 4 25 hm5C_associated_SNPs_76942 7 Likely pathogenic Glioblastoma RCV000435616.1
3875 chr17 7577518 7577518 1 + T A BRCA 7577522 - 7577502 7577542 41 AACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTC AACCGGAGGCCCATCCTCACCATCTTCACACTGGAAGACTC < 41bp 0.727111434268705 0.418073061961041 0.06403765 0.10579181 prediction 0.454222868537411 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577522 chr17:7577518 nonsynonymous SNV 0.948 4 25 hm5C_associated_SNPs_76942 7 Likely pathogenic Oesophageal carcinoma RCV000436027.1
3875 chr17 7577518 7577518 1 + T A BRCA 7577522 - 7577502 7577542 41 AACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTC AACCGGAGGCCCATCCTCACCATCTTCACACTGGAAGACTC < 41bp 0.727111434268705 0.418073061961041 0.06403765 0.10579181 prediction 0.454222868537411 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577522 chr17:7577518 nonsynonymous SNV 0.948 4 25 hm5C_associated_SNPs_76942 7 Likely pathogenic Chronic lymphocytic leukemia RCV000436676.1
3875 chr17 7577518 7577518 1 + T A BRCA 7577522 - 7577502 7577542 41 AACCGGAGGCCCATCCTCACCATCATCACACTGGAAGACTC AACCGGAGGCCCATCCTCACCATCTTCACACTGGAAGACTC < 41bp 0.727111434268705 0.418073061961041 0.06403765 0.10579181 prediction 0.454222868537411 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577522 chr17:7577518 nonsynonymous SNV 0.948 4 25 hm5C_associated_SNPs_76942 7 Likely pathogenic Pancreatic adenocarcinoma RCV000444896.1
3875 chr11 68675722 68675722 1 + C T rs144401213 68675720 + 68675700 68675740 41 CGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGCTTG CGGTGGCCTTTGATGAGTCCCATGATTTCCAGTTGAGCTTG < 41bp 0.849264462761949 0.622214752474586 0.0398255 0.18647659 prediction 0.454099420574725 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68675720 chr11:68675722 synonymous SNV . 0 23 hm5C_associated_SNPs_76968 2 Uncertain significance Spinal muscular atrophy RCV000392598.1
3875 chr11 68675722 68675722 1 + C T rs144401213 68675720 + 68675700 68675740 41 CGGTGGCCTTTGATGAGTCCCACGATTTCCAGTTGAGCTTG CGGTGGCCTTTGATGAGTCCCATGATTTCCAGTTGAGCTTG < 41bp 0.849264462761949 0.622214752474586 0.0398255 0.18647659 prediction 0.454099420574725 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68675720 chr11:68675722 synonymous SNV . 0 23 hm5C_associated_SNPs_76968 2 Benign not specified RCV000442293.1
3875 chr1 223116472 223116472 1 + G A rs2609383 223116469 + 223116449 223116489 41 GCAGTCACCAAGAGTGCCATCCCGAGGCTGGCCCTGCAGCA GCAGTCACCAAGAGTGCCATCCCAAGGCTGGCCCTGCAGCA < 41bp 0.727037336241847 0.475144970588006 0.2723191 0.18114126 prediction 0.454074672483694 Functional Loss - DISP1 ENSG00000154309 CDS Human protein_coding chr1:223116469 chr1:223116472 nonsynonymous SNV 0.953 1 24 hm5C_associated_SNPs_76978 1 Benign not specified RCV000251551.1
3875 chr12 2786372 2786372 1 + C T UCEC 2786375 - 2786355 2786395 41 GCCCTCACCTGCAGAGACAGCGCGTTCCTCTGGGAGGGCTT GCCCTCACCTGCAGAGACAGCGCATTCCTCTGGGAGGGCTT < 41bp 0.75989609100211 0.532932092968481 0.18204513 0.2924977 prediction 0.453927996067258 Functional Loss - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2786375 chr12:2786372 synonymous SNV . 0 24 hm5C_associated_SNPs_77028 1 Likely benign Long QT syndrome RCV000461556.1
3875 chr16 88874626 88874626 1 + G A rs77893539 88874623 + 88874603 88874643 41 TACGTCAAGCTGGACAAGGCCGCGGACCTCGCCCACATCAC TACGTCAAGCTGGACAAGGCCGCAGACCTCGCCCACATCAC < 41bp 0.763410421533285 0.536459221163291 0.5380019 0.32296246 prediction 0.453902400739986 Functional Loss - CDT1 ENSG00000167513 CDS Human protein_coding chr16:88874623 chr16:88874626 synonymous SNV . 0 24 hm5C_associated_SNPs_77039 1 Likely benign not specified RCV000116644.2
3875 chr3 33174168 33174168 1 + G A rs1135128 33174165 + 33174145 33174185 41 CACAGGGACACTTGGGGCCTCTCGGATGAGCACTTCCAGCC CACAGGGACACTTGGGGCCTCTCAGATGAGCACTTCCAGCC < 41bp 0.776468534714175 0.549559962064911 0.82639897 0.8451538 prediction 0.453817145298527 Functional Loss - CRTAP ENSG00000170275 CDS Human protein_coding chr3:33174165 chr3:33174168 synonymous SNV . 0 24 hm5C_associated_SNPs_77069 2 Benign not specified RCV000251530.2
3875 chr3 33174168 33174168 1 + G A rs1135128 33174165 + 33174145 33174185 41 CACAGGGACACTTGGGGCCTCTCGGATGAGCACTTCCAGCC CACAGGGACACTTGGGGCCTCTCAGATGAGCACTTCCAGCC < 41bp 0.776468534714175 0.549559962064911 0.82639897 0.8451538 prediction 0.453817145298527 Functional Loss - CRTAP ENSG00000170275 CDS Human protein_coding chr3:33174165 chr3:33174168 synonymous SNV . 0 24 hm5C_associated_SNPs_77069 2 Benign Osteogenesis Imperfecta, Recessive RCV000321518.1
3875 chr7 65551751 65551751 1 + G A UCEC 65551748 + 65551728 65551768 41 CAGCCACGCCGTGGCACTGACCCGAGACTCTGAGCGGCTGC CAGCCACGCCGTGGCACTGACCCAAGACTCTGAGCGGCTGC < 41bp 0.772937438506346 0.546158444191486 0.28018254 0.16132101 prediction 0.453557988629719 Functional Loss - ASL ENSG00000126522 CDS Human protein_coding chr7:65551748 chr7:65551751 nonsynonymous SNV 0.930 3 24 hm5C_associated_SNPs_77157 1 Pathogenic Argininosuccinate lyase deficiency RCV000454306.1
3875 chr20 18516317 18516317 1 + G A UCEC 18516314 + 18516294 18516334 41 CAGGAGCTTGGTGTTGGTGGCACGAGTCAGTGGAAAATCTG CAGGAGCTTGGTGTTGGTGGCACAAGTCAGTGGAAAATCTG < 41bp 0.759925568896819 0.533276666629265 0.2982964 0.23348865 prediction 0.453297804535109 Functional Loss - SEC23B ENSG00000101310 CDS Human protein_coding chr20:18516314 chr20:18516317 synonymous SNV . 0 24 hm5C_associated_SNPs_77259 1 Uncertain significance Congenital dyserythropoietic anemia RCV000282343.1
3875 chr1 156144971 156144971 1 + G A rs2075164 156144968 + 156144948 156144988 41 CTGTGTGGACTGTGTCCTTGCCCGGGACCCCCACTGTGCCT CTGTGTGGACTGTGTCCTTGCCCAGGACCCCCACTGTGCCT < 41bp 0.726096453273086 0.468002655226064 0.35919648 0.051005125 prediction 0.452192906546172 Functional Loss - SEMA4A ENSG00000196189 CDS Human protein_coding chr1:156144968 chr1:156144971 nonsynonymous SNV 1.000 2 24 hm5C_associated_SNPs_77627 3 Benign not specified RCV000174592.1
3875 chr1 156144971 156144971 1 + G A rs2075164 156144968 + 156144948 156144988 41 CTGTGTGGACTGTGTCCTTGCCCGGGACCCCCACTGTGCCT CTGTGTGGACTGTGTCCTTGCCCAGGACCCCCACTGTGCCT < 41bp 0.726096453273086 0.468002655226064 0.35919648 0.051005125 prediction 0.452192906546172 Functional Loss - SEMA4A ENSG00000196189 CDS Human protein_coding chr1:156144968 chr1:156144971 nonsynonymous SNV 1.000 2 24 hm5C_associated_SNPs_77627 3 Likely benign Retinitis Pigmentosa, Recessive RCV000275357.1
3875 chr1 156144971 156144971 1 + G A rs2075164 156144968 + 156144948 156144988 41 CTGTGTGGACTGTGTCCTTGCCCGGGACCCCCACTGTGCCT CTGTGTGGACTGTGTCCTTGCCCAGGACCCCCACTGTGCCT < 41bp 0.726096453273086 0.468002655226064 0.35919648 0.051005125 prediction 0.452192906546172 Functional Loss - SEMA4A ENSG00000196189 CDS Human protein_coding chr1:156144968 chr1:156144971 nonsynonymous SNV 1.000 2 24 hm5C_associated_SNPs_77627 3 Likely benign Cone-Rod Dystrophy, Recessive RCV000369948.1
3875 chr1 156144970 156144970 1 + C T LAML 156144968 + 156144948 156144988 41 CTGTGTGGACTGTGTCCTTGCCCGGGACCCCCACTGTGCCT CTGTGTGGACTGTGTCCTTGCCTGGGACCCCCACTGTGCCT < 41bp 0.726096453273086 0.452961955211588 0.35919648 0.3909292 prediction 0.452192906546172 Functional Loss - SEMA4A ENSG00000196189 CDS Human protein_coding chr1:156144968 chr1:156144970 nonsynonymous SNV 0.999 4 23 hm5C_associated_SNPs_77628 1 Likely pathogenic not provided RCV000437436.1
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 Benign Cardiomyopathy RCV000029675.1
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 other not specified RCV000037983.7
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000227163.2
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000227163.2
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000271030.1
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000328428.1
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 Likely benign Skin fragility woolly hair syndrome RCV000330639.1
3875 chr6 7542253 7542253 1 + G A rs77445784 7542250 + 7542230 7542270 41 TACGAGGTGACCAGCGGCGGCGGGGGCACCAGCAGGATGTA TACGAGGTGACCAGCGGCGGCGGAGGCACCAGCAGGATGTA < 41bp 0.754364363291161 0.528319257292738 0.91218877 0.90935385 prediction 0.452090211996845 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7542250 chr6:7542253 synonymous SNV . 0 24 hm5C_associated_SNPs_77667 8 Likely benign Cardiomyopathy, ARVC RCV000387490.1
3875 chr15 40477831 40477831 1 + G A rs1801376 40477828 + 40477808 40477848 41 TCCATATGTGGAAGAGACTGCACGACAGCCAGTTATGTGAG TCCATATGTGGAAGAGACTGCACAACAGCCAGTTATGTGAG < 41bp 0.773545541212655 0.547636719411739 0.2999118 0.19520202 prediction 0.451817643601833 Functional Loss - BUB1B ENSG00000156970 CDS Human protein_coding chr15:40477828 chr15:40477831 nonsynonymous SNV 0.977 0 24 hm5C_associated_SNPs_77759 2 Benign,Benign Mosaic variegated aneuploidy syndrome 1,not specified RCV000210495.3,RCV000120431.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000417511.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Oesophageal carcinoma RCV000418221.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Squamous cell carcinoma of lung RCV000418859.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Uterine Carcinosarcoma RCV000423239.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Malignant melanoma of skin RCV000423893.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Neoplasm of the breast RCV000425645.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Small cell lung cancer RCV000428451.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Brainstem glioma RCV000431265.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Pancreatic adenocarcinoma RCV000434193.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Neoplasm of brain RCV000435900.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Adenocarcinoma of lung RCV000436639.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Colorectal Neoplasms RCV000438678.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Hepatocellular carcinoma RCV000440924.1
3875 chr17 7578443 7578443 1 + A G HNSC 7578444 - 7578424 7578464 41 CGCGTCCGCGCCATGGCCATCTACAAGCAGTCACAGCACAT CGCGTCCGCGCCATGGCCATCCACAAGCAGTCACAGCACAT < 41bp 0.791531440292176 0.565695295336961 0.9150708 0.15695018 prediction 0.45167228991043 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578444 chr17:7578443 nonsynonymous SNV 0.690 5 22 hm5C_associated_SNPs_77807 14 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000441609.1
3875 chr15 65937980 65937980 1 + C T rs191146484 65937978 + 65937958 65937998 41 CCAGCCAAGCTCCCTGCGGTCACGGTCACACCAGCCCCTGT CCAGCCAAGCTCCCTGCGGTCATGGTCACACCAGCCCCTGT < 41bp 0.725819889971279 0.447756627768751 0.38169265 0.543939 prediction 0.451639779942558 Functional Loss - SLC24A1 ENSG00000074621 CDS Human protein_coding chr15:65937978 chr15:65937980 nonsynonymous SNV 0.980 2 23 hm5C_associated_SNPs_77818 1 Uncertain significance Congenital Stationary Night Blindness, Recessive RCV000312302.1
3875 chrX 48374470 48374470 1 + G A GBM 48374467 + 48374447 48374487 41 AGTCCTCCGGAAGCGCCTGGCTCGGATCCTCAGTGCCTGTG AGTCCTCCGGAAGCGCCTGGCTCAGATCCTCAGTGCCTGTG < 41bp 0.768117359204933 0.54258214924847 0.21454397 0.1723679 prediction 0.451070419912926 Functional Loss - PORCN ENSG00000102312 CDS Human protein_coding chrX:48374467 chrX:48374470 nonsynonymous SNV 0.996 0 24 hm5C_associated_SNPs_78014 1 Pathogenic Focal dermal hypoplasia RCV000022872.5
3875 chr10 96540410 96540410 1 + G A rs4986893 96540407 + 96540387 96540427 41 ATCAGGATTGTAAGCACCCCCTGGATCCAGGTAAGGCCAAG ATCAGGATTGTAAGCACCCCCTGAATCCAGGTAAGGCCAAG < 41bp 0.746640005517243 0.521192865483222 0.051191866 0.013717324 prediction 0.450894280068041 Functional Loss - CYP2C19 ENSG00000165841 CDS Human protein_coding chr10:96540407 chr10:96540410 stopgain 0.011 0 24 hm5C_associated_SNPs_78057 4 drug response Mephenytoin, poor metabolism of RCV000018397.27
3875 chr10 96540410 96540410 1 + G A rs4986893 96540407 + 96540387 96540427 41 ATCAGGATTGTAAGCACCCCCTGGATCCAGGTAAGGCCAAG ATCAGGATTGTAAGCACCCCCTGAATCCAGGTAAGGCCAAG < 41bp 0.746640005517243 0.521192865483222 0.051191866 0.013717324 prediction 0.450894280068041 Functional Loss - CYP2C19 ENSG00000165841 CDS Human protein_coding chr10:96540407 chr10:96540410 stopgain 0.011 0 24 hm5C_associated_SNPs_78057 4 drug response Proguanil, poor metabolism of RCV000018398.27
3875 chr10 96540410 96540410 1 + G A rs4986893 96540407 + 96540387 96540427 41 ATCAGGATTGTAAGCACCCCCTGGATCCAGGTAAGGCCAAG ATCAGGATTGTAAGCACCCCCTGAATCCAGGTAAGGCCAAG < 41bp 0.746640005517243 0.521192865483222 0.051191866 0.013717324 prediction 0.450894280068041 Functional Loss - CYP2C19 ENSG00000165841 CDS Human protein_coding chr10:96540407 chr10:96540410 stopgain 0.011 0 24 hm5C_associated_SNPs_78057 4 drug response clopidogrel response - Efficacy, Toxicity/ADR RCV000211151.1
3875 chr10 96540410 96540410 1 + G A rs4986893 96540407 + 96540387 96540427 41 ATCAGGATTGTAAGCACCCCCTGGATCCAGGTAAGGCCAAG ATCAGGATTGTAAGCACCCCCTGAATCCAGGTAAGGCCAAG < 41bp 0.746640005517243 0.521192865483222 0.051191866 0.013717324 prediction 0.450894280068041 Functional Loss - CYP2C19 ENSG00000165841 CDS Human protein_coding chr10:96540407 chr10:96540410 stopgain 0.011 0 24 hm5C_associated_SNPs_78057 4 other not provided RCV000291495.1
3875 chr5 251542 251542 1 + C T COAD 251540 + 251520 251560 41 GACCATCTACGGAGCAGAGGCACGGAAGGAGTCACGGGGCG GACCATCTACGGAGCAGAGGCATGGAAGGAGTCACGGGGCG < 41bp 0.830662007843603 0.605234175762396 0.57155246 0.518198 prediction 0.450855664162415 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:251540 chr5:251542 nonsynonymous SNV 0.664 4 23 hm5C_associated_SNPs_78071 4 Pathogenic Paragangliomas 5 RCV000148027.2
3875 chr5 251542 251542 1 + C T COAD 251540 + 251520 251560 41 GACCATCTACGGAGCAGAGGCACGGAAGGAGTCACGGGGCG GACCATCTACGGAGCAGAGGCATGGAAGGAGTCACGGGGCG < 41bp 0.830662007843603 0.605234175762396 0.57155246 0.518198 prediction 0.450855664162415 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:251540 chr5:251542 nonsynonymous SNV 0.664 4 23 hm5C_associated_SNPs_78071 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000163558.2
3875 chr5 251542 251542 1 + C T COAD 251540 + 251520 251560 41 GACCATCTACGGAGCAGAGGCACGGAAGGAGTCACGGGGCG GACCATCTACGGAGCAGAGGCATGGAAGGAGTCACGGGGCG < 41bp 0.830662007843603 0.605234175762396 0.57155246 0.518198 prediction 0.450855664162415 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:251540 chr5:251542 nonsynonymous SNV 0.664 4 23 hm5C_associated_SNPs_78071 4 Uncertain significance Mitochondrial complex II deficiency RCV000464783.1
3875 chr5 251542 251542 1 + C T COAD 251540 + 251520 251560 41 GACCATCTACGGAGCAGAGGCACGGAAGGAGTCACGGGGCG GACCATCTACGGAGCAGAGGCATGGAAGGAGTCACGGGGCG < 41bp 0.830662007843603 0.605234175762396 0.57155246 0.518198 prediction 0.450855664162415 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:251540 chr5:251542 nonsynonymous SNV 0.664 4 23 hm5C_associated_SNPs_78071 4 Uncertain significance Paragangliomas 5 RCV000464783.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Transitional cell carcinoma of the bladder RCV000423141.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Malignant neoplasm of body of uterus RCV000424045.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Glioblastoma RCV000426398.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Uterine cervical neoplasms RCV000433839.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Colorectal Neoplasms RCV000434314.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Uterine Carcinosarcoma RCV000436216.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Adenocarcinoma of stomach RCV000444298.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Likely pathogenic Adenocarcinoma of prostate RCV000444322.1
3875 chr10 89717673 89717673 1 + G A BLCA 89717670 + 89717650 89717690 41 TTCCTCCAATTCAGGACCCACACGACGGGAAGACAAGTTCA TTCCTCCAATTCAGGACCCACACAACGGGAAGACAAGTTCA < 41bp 0.739179109090182 0.513780136032038 0.027666122 0.0059271753 prediction 0.450797946116289 Functional Loss - PTEN ENSG00000171862 CDS Human protein_coding chr10:89717670 chr10:89717673 nonsynonymous SNV 0.999 2 24 hm5C_associated_SNPs_78088 9 Uncertain significance PTEN hamartoma tumor syndrome RCV000473076.1
3875 chr4 55561862 55561862 1 + G A rs56411694 55561859 + 55561839 55561879 41 AATAAGCAGAATGAATGGATCACGGAAAAGGCAGAAGCCAC AATAAGCAGAATGAATGGATCACAGAAAAGGCAGAAGCCAC < 41bp 0.725376056482794 0.490385373855811 0.18757343 0.024786562 prediction 0.450752112965588 Functional Loss - KIT ENSG00000157404 CDS Human protein_coding chr4:55561859 chr4:55561862 synonymous SNV . 0 24 hm5C_associated_SNPs_78111 1 Benign Gastrointestinal stromal tumor RCV000458149.1
3875 chr18 72999303 72999303 1 + G A rs141313878 72999300 + 72999280 72999320 41 GAGGAGCTGGTGGAGAAGGTCACGGGCAAGGTCAACATCAA GAGGAGCTGGTGGAGAAGGTCACAGGCAAGGTCAACATCAA < 41bp 0.769639419070862 0.54443131348252 0.39956468 0.111591995 prediction 0.450416211176683 Functional Loss - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72999300 chr18:72999303 synonymous SNV . 0 24 hm5C_associated_SNPs_78225 1 Likely benign Aural atresia, congenital RCV000390387.1
3875 chr5 121761178 121761178 1 + C T rs55770446 121761176 + 121761156 121761196 41 CTTTGATGGGAGAAGACTGCCTCAATGAGCGCAACACTGAG CTTTGATGGGAGAAGACTGCCTTAATGAGCGCAACACTGAG < 41bp 0.725178977605418 0.4344253954943 0.9141473 0.14294407 prediction 0.450357955210837 Functional Loss - SNCAIP ENSG00000064692 CDS Human protein_coding chr5:121761176 chr5:121761178 stopgain 0.888 0 23 hm5C_associated_SNPs_78249 1 Likely benign Parkinson Disease, Dominant/Recessive RCV000291899.1
3875 chr16 72057421 72057421 1 + C T rs61733129 72057419 + 72057399 72057439 41 GGTGTGAGCAGCGGGCAGGACGCGCTGGAGAAGATCCGGGC GGTGTGAGCAGCGGGCAGGACGTGCTGGAGAAGATCCGGGC < 41bp 0.83763450979547 0.612479951296103 0.581784 0.7498222 prediction 0.450309116998734 Functional Loss - DHODH ENSG00000102967 CDS Human protein_coding chr16:72057419 chr16:72057421 nonsynonymous SNV 0.985 5 23 hm5C_associated_SNPs_78260 2 other not specified RCV000116874.3
3875 chr16 72057421 72057421 1 + C T rs61733129 72057419 + 72057399 72057439 41 GGTGTGAGCAGCGGGCAGGACGCGCTGGAGAAGATCCGGGC GGTGTGAGCAGCGGGCAGGACGTGCTGGAGAAGATCCGGGC < 41bp 0.83763450979547 0.612479951296103 0.581784 0.7498222 prediction 0.450309116998734 Functional Loss - DHODH ENSG00000102967 CDS Human protein_coding chr16:72057419 chr16:72057421 nonsynonymous SNV 0.985 5 23 hm5C_associated_SNPs_78260 2 Likely benign Miller syndrome RCV000394797.1
3875 chr6 81054284 81054284 1 + G A rs563470467 81054281 + 81054261 81054301 41 ACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGT ACCATGTTGGCCAGGATGGTCTCAATCTCTTGACCTTGTGT < 41bp 0.747980225281653 0.522889047151114 0.76672256 0.6660555 prediction 0.450182356261077 Functional Loss - BCKDHB ENSG00000083123 UTR3 Human protein_coding chr6:81054281 chr6:81054284 . . 0 24 hm5C_associated_SNPs_78310 1 Uncertain significance Maple syrup urine disease RCV000374865.1
3875 chr10 75676658 75676658 1 + G A rs185909762 75676655 + 75676635 75676675 41 GTGAAGGGAGAGCCAGCTCCCCCGACGGTGGGCATTTGTGA GTGAAGGGAGAGCCAGCTCCCCCAACGGTGGGCATTTGTGA < 41bp 0.762349934436198 0.53732844828972 0.087371856 0.06583738 prediction 0.450042972292956 Functional Loss - PLAU ENSG00000122861 UTR3 Human protein_coding chr10:75676655 chr10:75676658 . . 0 24 hm5C_associated_SNPs_78368 1 Likely benign Quebec platelet disorder RCV000261684.1
3875 chr2 97476736 97476736 1 + C T rs10172803 97476734 + 97476714 97476754 41 GGGTGCAGCAGGAGCTGGGTCCCGAGAGCCTGGCAGGTGAA GGGTGCAGCAGGAGCTGGGTCCTGAGAGCCTGGCAGGTGAA < 41bp 0.732894616500728 0.507926309290174 0.6519598 0.6603699 prediction 0.449936614421107 Functional Loss - CNNM4 ENSG00000158158 UTR3 Human protein_coding chr2:97476734 chr2:97476736 . . 0 23 hm5C_associated_SNPs_78405 1 Likely benign Cone-rod dystrophy amelogenesis imperfecta RCV000375992.1
3875 chr11 62381150 62381150 1 + C T rs566866016 62381148 + 62381128 62381168 41 GCCTGGGAGTCTGGATGAGGCGCTGGAGGAGGGCCTGGTGA GCCTGGGAGTCTGGATGAGGCGTTGGAGGAGGGCCTGGTGA < 41bp 0.756100390276845 0.53135085436262 0.846375 0.8649429 prediction 0.449499071828448 Functional Loss - ROM1 ENSG00000149489 CDS Human protein_coding chr11:62381148 chr11:62381150 synonymous SNV . 0 23 hm5C_associated_SNPs_78551 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000316481.1
3875 chrX 47060918 47060918 1 + C T rs193168226 47060916 + 47060896 47060936 41 CCTGCCTGGATGAGGCCCGACACGGGTTTGAGAGCGGGGAC CCTGCCTGGATGAGGCCCGACATGGGTTTGAGAGCGGGGAC < 41bp 0.840934975335095 0.616189735198935 0.06530535 0.10129398 prediction 0.449490480272322 Functional Loss - UBA1 ENSG00000130985 CDS Human protein_coding chrX:47060916 chrX:47060918 synonymous SNV . 0 23 hm5C_associated_SNPs_78554 1 Likely benign Arthrogryposis multiplex congenita, distal, X-linked RCV000262304.1
3875 chr18 31323161 31323161 1 + C T HNSC 31323159 + 31323139 31323179 41 GCTCTTTGCAAAGCATCAAGCTCGAGCCCATCTCTTCCAGA GCTCTTTGCAAAGCATCAAGCTTGAGCCCATCTCTTCCAGA < 41bp 0.724655728055323 0.434728251248009 0.11296323 0.07416573 prediction 0.449311456110645 Functional Loss - ASXL3 ENSG00000141431 CDS Human protein_coding chr18:31323159 chr18:31323161 stopgain 0.985 0 23 hm5C_associated_SNPs_78621 2 Likely pathogenic Bainbridge-Ropers syndrome RCV000263069.1
3875 chr18 31323161 31323161 1 + C T HNSC 31323159 + 31323139 31323179 41 GCTCTTTGCAAAGCATCAAGCTCGAGCCCATCTCTTCCAGA GCTCTTTGCAAAGCATCAAGCTTGAGCCCATCTCTTCCAGA < 41bp 0.724655728055323 0.434728251248009 0.11296323 0.07416573 prediction 0.449311456110645 Functional Loss - ASXL3 ENSG00000141431 CDS Human protein_coding chr18:31323159 chr18:31323161 stopgain 0.985 0 23 hm5C_associated_SNPs_78621 2 Pathogenic not provided RCV000271358.1
3875 chr17 45360730 45360730 1 + T C rs5918 45360729 + 45360709 45360749 41 CTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGAC CTGTCTTACAGGCCCTGCCTCCGGGCTCACCTCGCTGTGAC < 41bp 0.778110454208838 0.553505227249273 0.91168326 0.922824 prediction 0.449210453919131 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45360729 chr17:45360730 nonsynonymous SNV 0.210 1 22 hm5C_associated_SNPs_78663 7 Benign PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM RCV000014519.4
3875 chr17 45360730 45360730 1 + T C rs5918 45360729 + 45360709 45360749 41 CTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGAC CTGTCTTACAGGCCCTGCCTCCGGGCTCACCTCGCTGTGAC < 41bp 0.778110454208838 0.553505227249273 0.91168326 0.922824 prediction 0.449210453919131 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45360729 chr17:45360730 nonsynonymous SNV 0.210 1 22 hm5C_associated_SNPs_78663 7 Pathogenic Thrombocytopenia, neonatal alloimmune RCV000014520.21
3875 chr17 45360730 45360730 1 + T C rs5918 45360729 + 45360709 45360749 41 CTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGAC CTGTCTTACAGGCCCTGCCTCCGGGCTCACCTCGCTGTGAC < 41bp 0.778110454208838 0.553505227249273 0.91168326 0.922824 prediction 0.449210453919131 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45360729 chr17:45360730 nonsynonymous SNV 0.210 1 22 hm5C_associated_SNPs_78663 7 Pathogenic Posttransfusion purpura RCV000014521.27
3875 chr17 45360730 45360730 1 + T C rs5918 45360729 + 45360709 45360749 41 CTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGAC CTGTCTTACAGGCCCTGCCTCCGGGCTCACCTCGCTGTGAC < 41bp 0.778110454208838 0.553505227249273 0.91168326 0.922824 prediction 0.449210453919131 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45360729 chr17:45360730 nonsynonymous SNV 0.210 1 22 hm5C_associated_SNPs_78663 7 other Myocardial infarction RCV000014522.4
3875 chr17 45360730 45360730 1 + T C rs5918 45360729 + 45360709 45360749 41 CTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGAC CTGTCTTACAGGCCCTGCCTCCGGGCTCACCTCGCTGTGAC < 41bp 0.778110454208838 0.553505227249273 0.91168326 0.922824 prediction 0.449210453919131 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45360729 chr17:45360730 nonsynonymous SNV 0.210 1 22 hm5C_associated_SNPs_78663 7 other Fracture, hip, susceptibility to RCV000014524.4
3875 chr17 45360730 45360730 1 + T C rs5918 45360729 + 45360709 45360749 41 CTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGAC CTGTCTTACAGGCCCTGCCTCCGGGCTCACCTCGCTGTGAC < 41bp 0.778110454208838 0.553505227249273 0.91168326 0.922824 prediction 0.449210453919131 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45360729 chr17:45360730 nonsynonymous SNV 0.210 1 22 hm5C_associated_SNPs_78663 7 Benign not specified RCV000246922.1
3875 chr17 45360730 45360730 1 + T C rs5918 45360729 + 45360709 45360749 41 CTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGAC CTGTCTTACAGGCCCTGCCTCCGGGCTCACCTCGCTGTGAC < 41bp 0.778110454208838 0.553505227249273 0.91168326 0.922824 prediction 0.449210453919131 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45360729 chr17:45360730 nonsynonymous SNV 0.210 1 22 hm5C_associated_SNPs_78663 7 Likely benign Glanzmann thrombasthenia RCV000383813.1
3875 chr20 19956311 19956311 1 + G A rs181298473 19956308 + 19956288 19956328 41 TGCAGGAGAACAAGGAGTGCCACGTGTCCAGCACCGACATG TGCAGGAGAACAAGGAGTGCCACATGTCCAGCACCGACATG < 41bp 0.724582877660606 0.490844133244046 0.42132697 0.29766244 prediction 0.449165755321213 Functional Loss - RIN2 ENSG00000132669 CDS Human protein_coding chr20:19956308 chr20:19956311 nonsynonymous SNV 1.000 2 24 hm5C_associated_SNPs_78672 2 Uncertain significance not provided RCV000416166.1
3875 chr20 19956311 19956311 1 + G A rs181298473 19956308 + 19956288 19956328 41 TGCAGGAGAACAAGGAGTGCCACGTGTCCAGCACCGACATG TGCAGGAGAACAAGGAGTGCCACATGTCCAGCACCGACATG < 41bp 0.724582877660606 0.490844133244046 0.42132697 0.29766244 prediction 0.449165755321213 Functional Loss - RIN2 ENSG00000132669 CDS Human protein_coding chr20:19956308 chr20:19956311 nonsynonymous SNV 1.000 2 24 hm5C_associated_SNPs_78672 2 Benign not specified RCV000431227.1
3875 chr1 247587870 247587870 1 + G A rs138613962 247587867 + 247587847 247587887 41 GTGGAGATCCTGGGTTTCTCCGAGGCCAAAAGGAAAGAGTA GTGGAGATCCTGGGTTTCTCCGAAGCCAAAAGGAAAGAGTA < 41bp 0.724521966002893 0.473975598852445 0.8970483 0.5360762 prediction 0.449043932005786 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587867 chr1:247587870 synonymous SNV . 0 24 hm5C_associated_SNPs_78708 3 Likely benign Familial cold autoinflammatory syndrome RCV000263111.1
3875 chr1 247587870 247587870 1 + G A rs138613962 247587867 + 247587847 247587887 41 GTGGAGATCCTGGGTTTCTCCGAGGCCAAAAGGAAAGAGTA GTGGAGATCCTGGGTTTCTCCGAAGCCAAAAGGAAAGAGTA < 41bp 0.724521966002893 0.473975598852445 0.8970483 0.5360762 prediction 0.449043932005786 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587867 chr1:247587870 synonymous SNV . 0 24 hm5C_associated_SNPs_78708 3 Likely benign Familial amyloid nephropathy with urticaria AND deafness RCV000298450.1
3875 chr1 247587870 247587870 1 + G A rs138613962 247587867 + 247587847 247587887 41 GTGGAGATCCTGGGTTTCTCCGAGGCCAAAAGGAAAGAGTA GTGGAGATCCTGGGTTTCTCCGAAGCCAAAAGGAAAGAGTA < 41bp 0.724521966002893 0.473975598852445 0.8970483 0.5360762 prediction 0.449043932005786 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587867 chr1:247587870 synonymous SNV . 0 24 hm5C_associated_SNPs_78708 3 Likely benign Chronic infantile neurological, cutaneous and articular syndrome RCV000355663.1
3875 chr2 26678082 26678082 1 + A C rs115095929 26678081 + 26678061 26678101 41 CAGAGCTGCAGGCGCTACTGCAGCAGTATCTGAACTCCAAG CAGAGCTGCAGGCGCTACTGCCGCAGTATCTGAACTCCAAG < 41bp 0.724353345013571 0.460759598545127 0.7029525 0.33449006 prediction 0.448706690027142 Functional Loss - DRC1 ENSG00000157856 CDS Human protein_coding chr2:26678081 chr2:26678082 nonsynonymous SNV 0.215 3 22 hm5C_associated_SNPs_78851 1 Benign Primary ciliary dyskinesia RCV000475548.1
3875 chr15 74219546 74219546 1 + G T rs1048661 74219544 + 74219524 74219564 41 GGGGACAGCACGGGCATGGCCCGGGCCCGCACCTCCGTCTC GGGGACAGCACGGGCATGGCCCTGGCCCGCACCTCCGTCTC < 41bp 0.909750263736162 0.685492056202884 0.8799964 0.32754508 prediction 0.448516415066556 Functional Loss - LOXL1 ENSG00000129038 CDS Human protein_coding chr15:74219544 chr15:74219546 nonsynonymous SNV 0.983 1 23 hm5C_associated_SNPs_78909 1 other Exfoliation syndrome, susceptibility to RCV000015434.2
3875 chr21 47531471 47531471 1 + G A rs111639540 47531468 + 47531448 47531488 41 GCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAGAG GCCCAGCAGCAGGAGGTCATCTCACCGGACACTACCGAGAG < 41bp 0.72424698298185 0.478323322632159 0.3084733 0.2805907 prediction 0.4484939659637 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47531468 chr21:47531471 synonymous SNV . 0 24 hm5C_associated_SNPs_78913 3 Likely benign Collagen VI-related myopathy RCV000289970.1
3875 chr21 47531471 47531471 1 + G A rs111639540 47531468 + 47531448 47531488 41 GCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAGAG GCCCAGCAGCAGGAGGTCATCTCACCGGACACTACCGAGAG < 41bp 0.72424698298185 0.478323322632159 0.3084733 0.2805907 prediction 0.4484939659637 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47531468 chr21:47531471 synonymous SNV . 0 24 hm5C_associated_SNPs_78913 3 Likely benign not specified RCV000294819.1
3875 chr21 47531471 47531471 1 + G A rs111639540 47531468 + 47531448 47531488 41 GCCCAGCAGCAGGAGGTCATCTCGCCGGACACTACCGAGAG GCCCAGCAGCAGGAGGTCATCTCACCGGACACTACCGAGAG < 41bp 0.72424698298185 0.478323322632159 0.3084733 0.2805907 prediction 0.4484939659637 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47531468 chr21:47531471 synonymous SNV . 0 24 hm5C_associated_SNPs_78913 3 Likely benign Myosclerosis RCV000328566.1
3875 chr2 112751928 112751928 1 + G A rs7604639 112751925 + 112751905 112751945 41 AGTGAGGATTGCAGCCGTCACCAGAGGGGGAGTTGGGCCCT AGTGAGGATTGCAGCCGTCACCAAAGGGGGAGTTGGGCCCT < 41bp 0.800752487858743 0.576550840734109 0.90479666 0.6479682 prediction 0.448403294249267 Functional Loss - MERTK ENSG00000153208 CDS Human protein_coding chr2:112751925 chr2:112751928 nonsynonymous SNV 0.328 0 24 hm5C_associated_SNPs_78947 1 Likely benign Retinitis Pigmentosa, Recessive RCV000397330.1
3875 chr11 67378977 67378977 1 + C T UCEC 67378974 + 67378954 67378994 41 TGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGC TGTGAGACGGTGCTGATGGACTTTGATGCGCTGGTGCAGGC < 41bp 0.727525564707502 0.503605752081304 0.14508605 0.08285916 prediction 0.447839625252397 Functional Loss - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378974 chr11:67378977 synonymous SNV . 0 24 hm5C_associated_SNPs_79123 2 Uncertain significance Leigh syndrome RCV000267146.1
3875 chr11 67378977 67378977 1 + C T UCEC 67378974 + 67378954 67378994 41 TGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGGC TGTGAGACGGTGCTGATGGACTTTGATGCGCTGGTGCAGGC < 41bp 0.727525564707502 0.503605752081304 0.14508605 0.08285916 prediction 0.447839625252397 Functional Loss - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378974 chr11:67378977 synonymous SNV . 0 24 hm5C_associated_SNPs_79123 2 Uncertain significance Mitochondrial complex I deficiency RCV000354895.1
3875 chr1 236918491 236918491 1 + C T UCEC 236918489 + 236918469 236918509 41 GACAACAAGCACACGAACTACACGATGGAGGTACGGCAGCC GACAACAAGCACACGAACTACATGATGGAGGTACGGCAGCC < 41bp 0.854322821654103 0.630447999938405 0.30147624 0.11037743 prediction 0.447749643431397 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918489 chr1:236918491 nonsynonymous SNV 0.993 3 23 hm5C_associated_SNPs_79152 6 Uncertain significance Cardiomyopathy RCV000029298.3
3875 chr1 236918491 236918491 1 + C T UCEC 236918489 + 236918469 236918509 41 GACAACAAGCACACGAACTACACGATGGAGGTACGGCAGCC GACAACAAGCACACGAACTACATGATGGAGGTACGGCAGCC < 41bp 0.854322821654103 0.630447999938405 0.30147624 0.11037743 prediction 0.447749643431397 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918489 chr1:236918491 nonsynonymous SNV 0.993 3 23 hm5C_associated_SNPs_79152 6 Uncertain significance not specified RCV000036896.3
3875 chr1 236918491 236918491 1 + C T UCEC 236918489 + 236918469 236918509 41 GACAACAAGCACACGAACTACACGATGGAGGTACGGCAGCC GACAACAAGCACACGAACTACATGATGGAGGTACGGCAGCC < 41bp 0.854322821654103 0.630447999938405 0.30147624 0.11037743 prediction 0.447749643431397 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918489 chr1:236918491 nonsynonymous SNV 0.993 3 23 hm5C_associated_SNPs_79152 6 Uncertain significance Familial hypertrophic cardiomyopathy 1 RCV000172894.1
3875 chr1 236918491 236918491 1 + C T UCEC 236918489 + 236918469 236918509 41 GACAACAAGCACACGAACTACACGATGGAGGTACGGCAGCC GACAACAAGCACACGAACTACATGATGGAGGTACGGCAGCC < 41bp 0.854322821654103 0.630447999938405 0.30147624 0.11037743 prediction 0.447749643431397 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918489 chr1:236918491 nonsynonymous SNV 0.993 3 23 hm5C_associated_SNPs_79152 6 Uncertain significance Dilated cardiomyopathy 1AA RCV000228927.1
3875 chr1 236918491 236918491 1 + C T UCEC 236918489 + 236918469 236918509 41 GACAACAAGCACACGAACTACACGATGGAGGTACGGCAGCC GACAACAAGCACACGAACTACATGATGGAGGTACGGCAGCC < 41bp 0.854322821654103 0.630447999938405 0.30147624 0.11037743 prediction 0.447749643431397 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918489 chr1:236918491 nonsynonymous SNV 0.993 3 23 hm5C_associated_SNPs_79152 6 Uncertain significance Primary familial hypertrophic cardiomyopathy RCV000228927.1
3875 chr1 236918491 236918491 1 + C T UCEC 236918489 + 236918469 236918509 41 GACAACAAGCACACGAACTACACGATGGAGGTACGGCAGCC GACAACAAGCACACGAACTACATGATGGAGGTACGGCAGCC < 41bp 0.854322821654103 0.630447999938405 0.30147624 0.11037743 prediction 0.447749643431397 Functional Loss - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236918489 chr1:236918491 nonsynonymous SNV 0.993 3 23 hm5C_associated_SNPs_79152 6 Uncertain significance Cardiovascular phenotype RCV000251944.1
3875 chr17 4859418 4859418 1 + G A rs527864393 4859415 + 4859395 4859435 41 CTGAAGGTCAACCAGATCGGCTCGGTGACCGAATCGATCCA CTGAAGGTCAACCAGATCGGCTCAGTGACCGAATCGATCCA < 41bp 0.723860181361542 0.480646177932392 0.13703388 0.088754416 prediction 0.447720362723083 Functional Loss - ENO3 ENSG00000108515 CDS Human protein_coding chr17:4859415 chr17:4859418 synonymous SNV . 0 24 hm5C_associated_SNPs_79163 1 Uncertain significance Glycogen storage disease type 13 RCV000385726.1
3875 chr11 22291893 22291893 1 + G A SKCM 22291890 + 22291870 22291910 41 TTGGTGGAGACGCCGAAAAGCTCGGACAAACTCTGAGAAGC TTGGTGGAGACGCCGAAAAGCTCAGACAAACTCTGAGAAGC < 41bp 0.741976709856682 0.518155749036966 0.03521797 0.042562604 prediction 0.447641921639433 Functional Loss - ANO5 ENSG00000171714 CDS Human protein_coding chr11:22291890 chr11:22291893 nonsynonymous SNV 0.837 2 24 hm5C_associated_SNPs_79198 1 Uncertain significance not specified RCV000365414.1
3875 chr9 136307848 136307848 1 + G A rs36221451 136307845 + 136307825 136307865 41 CGTGGCCAGAGGCCTGCGTGCTCGAACCCTGCCCTCCCTAG CGTGGCCAGAGGCCTGCGTGCTCAAACCCTGCCCTCCCTAG < 41bp 0.763674286257353 0.539898739014011 0.18051824 0.16323137 prediction 0.447551094486684 Functional Loss - ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136307845 chr9:136307848 nonsynonymous SNV 0.000 0 24 hm5C_associated_SNPs_79225 2 Benign not specified RCV000249156.1
3875 chr9 136307848 136307848 1 + G A rs36221451 136307845 + 136307825 136307865 41 CGTGGCCAGAGGCCTGCGTGCTCGAACCCTGCCCTCCCTAG CGTGGCCAGAGGCCTGCGTGCTCAAACCCTGCCCTCCCTAG < 41bp 0.763674286257353 0.539898739014011 0.18051824 0.16323137 prediction 0.447551094486684 Functional Loss - ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136307845 chr9:136307848 nonsynonymous SNV 0.000 0 24 hm5C_associated_SNPs_79225 2 Likely benign Upshaw-Schulman syndrome RCV000312426.1
3875 chr5 236650 236650 1 + G A UCEC 236647 + 236627 236667 41 GCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTGT GCCAACCGCCTCGGGGCAAACTCACTCTTGGACCTGGTTGT < 41bp 0.79337791239773 0.569879169010886 0.4202269 0.24928436 prediction 0.446997486773689 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:236647 chr5:236650 synonymous SNV . 0 24 hm5C_associated_SNPs_79403 3 Likely benign Mitochondrial complex II deficiency RCV000210523.2
3875 chr5 236650 236650 1 + G A UCEC 236647 + 236627 236667 41 GCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTGT GCCAACCGCCTCGGGGCAAACTCACTCTTGGACCTGGTTGT < 41bp 0.79337791239773 0.569879169010886 0.4202269 0.24928436 prediction 0.446997486773689 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:236647 chr5:236650 synonymous SNV . 0 24 hm5C_associated_SNPs_79403 3 Likely benign Paragangliomas 5 RCV000210523.2
3875 chr5 236650 236650 1 + G A UCEC 236647 + 236627 236667 41 GCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTGT GCCAACCGCCTCGGGGCAAACTCACTCTTGGACCTGGTTGT < 41bp 0.79337791239773 0.569879169010886 0.4202269 0.24928436 prediction 0.446997486773689 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:236647 chr5:236650 synonymous SNV . 0 24 hm5C_associated_SNPs_79403 3 Likely benign not specified RCV000247565.2
3875 chrX 31196901 31196901 1 + G A GBM 31196898 + 31196878 31196918 41 TTTTAGTACCTTGGCAAAGTCTCGAACATCTTCTCCTGATG TTTTAGTACCTTGGCAAAGTCTCAAACATCTTCTCCTGATG < 41bp 0.723551894657346 0.500137352846391 0.8718569 0.41602504 prediction 0.446829083621909 Functional Loss - DMD ENSG00000198947 CDS Human protein_coding chrX:31196898 chrX:31196901 stopgain 0.998 0 24 hm5C_associated_SNPs_79460 3 Pathogenic Duchenne muscular dystrophy RCV000011964.14
3875 chrX 31196901 31196901 1 + G A GBM 31196898 + 31196878 31196918 41 TTTTAGTACCTTGGCAAAGTCTCGAACATCTTCTCCTGATG TTTTAGTACCTTGGCAAAGTCTCAAACATCTTCTCCTGATG < 41bp 0.723551894657346 0.500137352846391 0.8718569 0.41602504 prediction 0.446829083621909 Functional Loss - DMD ENSG00000198947 CDS Human protein_coding chrX:31196898 chrX:31196901 stopgain 0.998 0 24 hm5C_associated_SNPs_79460 3 Pathogenic Dilated cardiomyopathy 3B RCV000150054.4
3875 chrX 31196901 31196901 1 + G A GBM 31196898 + 31196878 31196918 41 TTTTAGTACCTTGGCAAAGTCTCGAACATCTTCTCCTGATG TTTTAGTACCTTGGCAAAGTCTCAAACATCTTCTCCTGATG < 41bp 0.723551894657346 0.500137352846391 0.8718569 0.41602504 prediction 0.446829083621909 Functional Loss - DMD ENSG00000198947 CDS Human protein_coding chrX:31196898 chrX:31196901 stopgain 0.998 0 24 hm5C_associated_SNPs_79460 3 Pathogenic Becker muscular dystrophy RCV000180033.2
3875 chr19 11152044 11152044 1 + G A UCEC 11152041 + 11152021 11152061 41 GGTCCGGCAGAAGAAATCATCACGGAAGCGCAAGCGAGACA GGTCCGGCAGAAGAAATCATCACAGAAGCGCAAGCGAGACA < 41bp 0.723293017038953 0.498971027319071 0.684327 0.61122674 prediction 0.446586034077905 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152041 chr19:11152044 nonsynonymous SNV 0.922 4 24 hm5C_associated_SNPs_79558 3 Uncertain significance Coffin-Siris syndrome RCV000355759.1
3875 chr19 11152044 11152044 1 + G A UCEC 11152041 + 11152021 11152061 41 GGTCCGGCAGAAGAAATCATCACGGAAGCGCAAGCGAGACA GGTCCGGCAGAAGAAATCATCACAGAAGCGCAAGCGAGACA < 41bp 0.723293017038953 0.498971027319071 0.684327 0.61122674 prediction 0.446586034077905 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152041 chr19:11152044 nonsynonymous SNV 0.922 4 24 hm5C_associated_SNPs_79558 3 Uncertain significance Obesity RCV000415015.1
3875 chr19 11152044 11152044 1 + G A UCEC 11152041 + 11152021 11152061 41 GGTCCGGCAGAAGAAATCATCACGGAAGCGCAAGCGAGACA GGTCCGGCAGAAGAAATCATCACAGAAGCGCAAGCGAGACA < 41bp 0.723293017038953 0.498971027319071 0.684327 0.61122674 prediction 0.446586034077905 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152041 chr19:11152044 nonsynonymous SNV 0.922 4 24 hm5C_associated_SNPs_79558 3 Uncertain significance intellectual deficiency RCV000415015.1
3875 chr1 236647387 236647387 1 + C T rs201710490 236647385 + 236647365 236647405 41 TGGGGAGCTTGGCAGAAGTTCACGGCCAGTGCAGGAATCCA TGGGGAGCTTGGCAGAAGTTCATGGCCAGTGCAGGAATCCA < 41bp 0.724040627218263 0.500769475550563 0.81722903 0.608542 prediction 0.446542303335399 Functional Loss - EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236647385 chr1:236647387 . . 0 23 hm5C_associated_SNPs_79574 1 Uncertain significance Hypohidrotic Ectodermal Dysplasia, Recessive RCV000379160.1
3875 chr20 31023408 31023408 1 + C T COAD 31023406 + 31023386 31023426 41 TTCACTCTGGACTGTGCCATCTCGAGGAGGCAGTGACAGCA TTCACTCTGGACTGTGCCATCTTGAGGAGGCAGTGACAGCA < 41bp 0.846336564972731 0.623130471268688 0.5032484 0.29493612 prediction 0.446412187408088 Functional Loss - ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31023406 chr20:31023408 stopgain 0.006 0 23 hm5C_associated_SNPs_79621 2 Pathogenic C-like syndrome RCV000032665.2
3875 chr20 31023408 31023408 1 + C T COAD 31023406 + 31023386 31023426 41 TTCACTCTGGACTGTGCCATCTCGAGGAGGCAGTGACAGCA TTCACTCTGGACTGTGCCATCTTGAGGAGGCAGTGACAGCA < 41bp 0.846336564972731 0.623130471268688 0.5032484 0.29493612 prediction 0.446412187408088 Functional Loss - ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31023406 chr20:31023408 stopgain 0.006 0 23 hm5C_associated_SNPs_79621 2 Pathogenic not provided RCV000255108.1
3875 chr17 61568584 61568584 1 + G A SKCM 61568581 + 61568561 61568601 41 TGCTTGCAGGGCTGGACGCCCAGGAGGATGTTTAAGGAGGC TGCTTGCAGGGCTGGACGCCCAGAAGGATGTTTAAGGAGGC < 41bp 0.762519110130127 0.539353826285529 0.88075995 0.47294912 prediction 0.446330567689196 Functional Loss - ACE ENSG00000159640;ENSG00000264813 CDS Human other chr17:61568581 chr17:61568584 synonymous SNV . 0 24 hm5C_associated_SNPs_79652 1 Uncertain significance Renal dysplasia RCV000373921.1
3875 chr1 247587254 247587254 1 + G A SKCM 247587251 + 247587231 247587271 41 GAGCCTCAACAAACGCTACACACGACTGCGTCTCATCAAGG GAGCCTCAACAAACGCTACACACAACTGCGTCTCATCAAGG < 41bp 0.784452670833481 0.561320281701204 0.09612107 0.03198427 prediction 0.446264778264556 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587251 chr1:247587254 nonsynonymous SNV 0.003 1 24 hm5C_associated_SNPs_79675 1 not provided Familial cold urticaria RCV000084224.1
3875 chr11 68682320 68682320 1 + C T rs76707931 68682317 + 68682297 68682337 41 TGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGA TGCTGCGCCCCCTCCAACATCGCTGTGGACAATCTGGTGGA < 41bp 0.723787094649552 0.50072302081321 0.48205033 0.28259033 prediction 0.446128147672686 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68682317 chr11:68682320 synonymous SNV . 0 24 hm5C_associated_SNPs_79724 2 Benign not specified RCV000179403.2
3875 chr11 68682320 68682320 1 + C T rs76707931 68682317 + 68682297 68682337 41 TGCTGCGCCCCCTCCAACATCGCCGTGGACAATCTGGTGGA TGCTGCGCCCCCTCCAACATCGCTGTGGACAATCTGGTGGA < 41bp 0.723787094649552 0.50072302081321 0.48205033 0.28259033 prediction 0.446128147672686 Functional Loss - IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68682317 chr11:68682320 synonymous SNV . 0 24 hm5C_associated_SNPs_79724 2 Uncertain significance Spinal muscular atrophy RCV000292195.1
3875 chr1 156851382 156851382 1 + G A rs35669708 156851379 + 156851359 156851399 41 CAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCC CAGCATCAAGGATGTGCACGCCCAGCTGCAAGCCCTGGCCC < 41bp 0.78746817640539 0.564441089318936 0.08827275 0.074813366 prediction 0.446054174172908 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156851379 chr1:156851382 nonsynonymous SNV 0.226 2 24 hm5C_associated_SNPs_79750 2 Likely benign not provided RCV000224279.1
3875 chr1 156851382 156851382 1 + G A rs35669708 156851379 + 156851359 156851399 41 CAGCATCAAGGATGTGCACGCCCGGCTGCAAGCCCTGGCCC CAGCATCAAGGATGTGCACGCCCAGCTGCAAGCCCTGGCCC < 41bp 0.78746817640539 0.564441089318936 0.08827275 0.074813366 prediction 0.446054174172908 Functional Loss - NTRK1 ENSG00000198400 CDS Human protein_coding chr1:156851379 chr1:156851382 nonsynonymous SNV 0.226 2 24 hm5C_associated_SNPs_79750 2 Likely benign not specified RCV000236228.2
3875 chr20 34022109 34022109 1 + G A COAD 34022106 + 34022086 34022126 41 TGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCC TGGCTGAACAGGTACTCATACACAGTCTTATCGTCCTGGCC < 41bp 0.723015065337057 0.47938702213466 0.35798788 0.097575516 prediction 0.446030130674114 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022106 chr20:34022109 synonymous SNV . 0 24 hm5C_associated_SNPs_79763 5 Uncertain significance Chondrodysplasia RCV000307883.1
3875 chr20 34022109 34022109 1 + G A COAD 34022106 + 34022086 34022126 41 TGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCC TGGCTGAACAGGTACTCATACACAGTCTTATCGTCCTGGCC < 41bp 0.723015065337057 0.47938702213466 0.35798788 0.097575516 prediction 0.446030130674114 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022106 chr20:34022109 synonymous SNV . 0 24 hm5C_associated_SNPs_79763 5 Uncertain significance Acromesomelic Dysplasia RCV000311454.1
3875 chr20 34022109 34022109 1 + G A COAD 34022106 + 34022086 34022126 41 TGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCC TGGCTGAACAGGTACTCATACACAGTCTTATCGTCCTGGCC < 41bp 0.723015065337057 0.47938702213466 0.35798788 0.097575516 prediction 0.446030130674114 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022106 chr20:34022109 synonymous SNV . 0 24 hm5C_associated_SNPs_79763 5 Uncertain significance Symphalangism-brachydactyly syndrome RCV000369626.1
3875 chr20 34022109 34022109 1 + G A COAD 34022106 + 34022086 34022126 41 TGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCC TGGCTGAACAGGTACTCATACACAGTCTTATCGTCCTGGCC < 41bp 0.723015065337057 0.47938702213466 0.35798788 0.097575516 prediction 0.446030130674114 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022106 chr20:34022109 synonymous SNV . 0 24 hm5C_associated_SNPs_79763 5 Uncertain significance Brachydactyly RCV000404610.1
3875 chr20 34022109 34022109 1 + G A COAD 34022106 + 34022086 34022126 41 TGGCTGAACAGGTACTCATACACGGTCTTATCGTCCTGGCC TGGCTGAACAGGTACTCATACACAGTCTTATCGTCCTGGCC < 41bp 0.723015065337057 0.47938702213466 0.35798788 0.097575516 prediction 0.446030130674114 Functional Loss - GDF5;GDF5OS ENSG00000125965;ENSG00000204183 CDS Human other chr20:34022106 chr20:34022109 synonymous SNV . 0 24 hm5C_associated_SNPs_79763 5 Uncertain significance Fibular hypoplasia and complex brachydactyly RCV000404917.1
3875 chr22 50962640 50962640 1 + G A GBM 50962637 + 50962617 50962657 41 CAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAG CAGGCCCCACCGAGTCCAGCCCCAAACAGGCCTGTGATCAG < 41bp 0.754086557442232 0.531116414224718 0.09636429 0.058199674 prediction 0.445940286435027 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962637 chr22:50962640 synonymous SNV . 0 24 hm5C_associated_SNPs_79791 4 Benign not specified RCV000128013.1
3875 chr22 50962640 50962640 1 + G A GBM 50962637 + 50962617 50962657 41 CAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAG CAGGCCCCACCGAGTCCAGCCCCAAACAGGCCTGTGATCAG < 41bp 0.754086557442232 0.531116414224718 0.09636429 0.058199674 prediction 0.445940286435027 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962637 chr22:50962640 synonymous SNV . 0 24 hm5C_associated_SNPs_79791 4 Uncertain significance Cytochrome-c oxidase deficiency RCV000264422.1
3875 chr22 50962640 50962640 1 + G A GBM 50962637 + 50962617 50962657 41 CAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAG CAGGCCCCACCGAGTCCAGCCCCAAACAGGCCTGTGATCAG < 41bp 0.754086557442232 0.531116414224718 0.09636429 0.058199674 prediction 0.445940286435027 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962637 chr22:50962640 synonymous SNV . 0 24 hm5C_associated_SNPs_79791 4 Uncertain significance Fatal Infantile Cardioencephalomyopathy RCV000324221.1
3875 chr22 50962640 50962640 1 + G A GBM 50962637 + 50962617 50962657 41 CAGGCCCCACCGAGTCCAGCCCCGAACAGGCCTGTGATCAG CAGGCCCCACCGAGTCCAGCCCCAAACAGGCCTGTGATCAG < 41bp 0.754086557442232 0.531116414224718 0.09636429 0.058199674 prediction 0.445940286435027 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962637 chr22:50962640 synonymous SNV . 0 24 hm5C_associated_SNPs_79791 4 Uncertain significance not provided RCV000416073.1
3875 chr11 67379039 67379039 1 + C T PAAD 67379037 + 67379017 67379057 41 GCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACC GCGGTGATCGTCATGGACCGCTTGGTAAGGGTTCACACACC < 41bp 0.821795107503653 0.599077909862453 0.07303235 0.07169819 prediction 0.4454343952824 Functional Loss - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379037 chr11:67379039 nonsynonymous SNV 0.991 4 23 hm5C_associated_SNPs_79968 2 Uncertain significance Mitochondrial complex I deficiency RCV000269669.1
3875 chr11 67379039 67379039 1 + C T PAAD 67379037 + 67379017 67379057 41 GCGGTGATCGTCATGGACCGCTCGGTAAGGGTTCACACACC GCGGTGATCGTCATGGACCGCTTGGTAAGGGTTCACACACC < 41bp 0.821795107503653 0.599077909862453 0.07303235 0.07169819 prediction 0.4454343952824 Functional Loss - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379037 chr11:67379039 nonsynonymous SNV 0.991 4 23 hm5C_associated_SNPs_79968 2 Uncertain significance Leigh syndrome RCV000384838.1
3875 chr17 66511664 66511664 1 + C T BRCA 66511662 + 66511642 66511682 41 TATTGTGCAGTTGTGCACTGCTCGACCTGAGAGACCCATGG TATTGTGCAGTTGTGCACTGCTTGACCTGAGAGACCCATGG < 41bp 0.722690243853991 0.44487908364335 0.18083584 0.063257635 prediction 0.445380487707982 Functional Loss - PRKAR1A ENSG00000108946 CDS Human protein_coding chr17:66511662 chr17:66511664 stopgain 0.709 1 23 hm5C_associated_SNPs_79991 1 Pathogenic Carney complex, type 1 RCV000034284.2
3875 chr2 233410294 233410294 1 + C T rs2099489 233410292 + 233410272 233410312 41 TGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCATG TGGTGGGCCGAGTGCTGGACCGTGTCTGCTTCCTGGCCATG < 41bp 0.72259984434726 0.466503730262246 0.039313912 0.025660932 prediction 0.44519968869452 Functional Loss - CHRNG ENSG00000196811 CDS Human protein_coding chr2:233410292 chr2:233410294 synonymous SNV . 0 23 hm5C_associated_SNPs_80047 2 Benign not specified RCV000174339.2
3875 chr2 233410294 233410294 1 + C T rs2099489 233410292 + 233410272 233410312 41 TGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCATG TGGTGGGCCGAGTGCTGGACCGTGTCTGCTTCCTGGCCATG < 41bp 0.72259984434726 0.466503730262246 0.039313912 0.025660932 prediction 0.44519968869452 Functional Loss - CHRNG ENSG00000196811 CDS Human protein_coding chr2:233410292 chr2:233410294 synonymous SNV . 0 23 hm5C_associated_SNPs_80047 2 Likely benign Multiple pterygium syndrome Escobar type RCV000261523.1
3875 chr2 233410295 233410295 1 + G A UCEC 233410292 + 233410272 233410312 41 TGGTGGGCCGAGTGCTGGACCGCGTCTGCTTCCTGGCCATG TGGTGGGCCGAGTGCTGGACCGCATCTGCTTCCTGGCCATG < 41bp 0.72259984434726 0.47177744532655 0.039313912 0.018201143 prediction 0.44519968869452 Functional Loss - CHRNG ENSG00000196811 CDS Human protein_coding chr2:233410292 chr2:233410295 nonsynonymous SNV 0.977 2 24 hm5C_associated_SNPs_80048 1 Uncertain significance Multiple pterygium syndrome Escobar type RCV000264568.1
3875 chr12 110032871 110032871 1 + C T GBM 110032869 + 110032849 110032889 41 ACCAGCACCATCTGAATGCCCTCGGCGTGGGCCACGCCTCT ACCAGCACCATCTGAATGCCCTTGGCGTGGGCCACGCCTCT < 41bp 0.722591093109289 0.442495671545154 0.14224342 0.10024482 prediction 0.445182186218577 Functional Loss - MVK ENSG00000110921 CDS Human protein_coding chr12:110032869 chr12:110032871 synonymous SNV . 0 23 hm5C_associated_SNPs_80057 1 other not specified RCV000194317.3
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Benign not specified RCV000038028.3
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000226191.2
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000226191.2
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Benign Cardiovascular phenotype RCV000250046.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000259602.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Likely benign Cardiomyopathy, ARVC RCV000317241.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Likely benign Skin fragility woolly hair syndrome RCV000361361.1
3875 chr6 7579933 7579933 1 + G A rs28763964 7579930 + 7579910 7579950 41 GCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGT GCCATCAAGGAGAAGGAGTACGAAATTGAAAGGTTGAGGGT < 41bp 0.730516966551852 0.50792999530093 0.43786067 0.18081856 prediction 0.445173942501844 Functional Loss - DSP ENSG00000096696 CDS Human protein_coding chr6:7579930 chr6:7579933 synonymous SNV . 0 24 hm5C_associated_SNPs_80060 8 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000374207.1
3875 chr2 219677331 219677331 1 + G A rs149897566 219677328 + 219677308 219677348 41 GCTGCCTGCAGCGATCCATCCCCGAGGACACCGTGACCTTC GCTGCCTGCAGCGATCCATCCCCAAGGACACCGTGACCTTC < 41bp 0.72241876750652 0.472487368198075 0.29052123 0.025166571 prediction 0.444837535013039 Functional Loss - CYP27A1 ENSG00000135929 CDS Human protein_coding chr2:219677328 chr2:219677331 nonsynonymous SNV 0.060 0 24 hm5C_associated_SNPs_80162 1 Uncertain significance Cholestanol storage disease RCV000400254.1
3875 chr20 4680118 4680118 1 + T C rs62637686 4680117 + 4680097 4680137 41 TGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGTC TGGTGGTGGCTGGGGACAGCCCCATGGTGGTGGCTGGGGTC < 41bp 0.79319474166159 0.570777901787323 0.23661217 0.28352076 prediction 0.444833679748534 Functional Loss - PRNP ENSG00000171867 CDS Human protein_coding chr20:4680117 chr20:4680118 synonymous SNV . 0 22 hm5C_associated_SNPs_80164 1 Benign Genetic prion diseases RCV000398037.1
3875 chr1 156785617 156785617 1 + G A rs1800601 156785614 + 156785594 156785634 41 GTAAGGGAGTGAGTGGGCAACTCGGCGCATGAAGGAGGTAC GTAAGGGAGTGAGTGGGCAACTCAGCGCATGAAGGAGGTAC < 41bp 0.722339676116479 0.493332252010887 0.5997112 0.3416077 prediction 0.444679352232958 Functional Loss - NTRK1 ENSG00000198400 UTR5 Human protein_coding chr1:156785614 chr1:156785617 . . 0 24 hm5C_associated_SNPs_80222 1 Benign not specified RCV000434139.1
3875 chr14 74960811 74960811 1 + G C rs201157942 74960810 + 74960790 74960830 41 GAGGCGTCGTCCTCCAGCCCCGAGGCCGGCGAAGGGCAGAT GAGGCGTCGTCCTCCAGCCCCCAGGCCGGCGAAGGGCAGAT < 41bp 0.884537283472952 0.662208081496859 0.576721 0.18334183 prediction 0.444658403952185 Functional Loss - ISCA2 ENSG00000119655;ENSG00000165898 CDS Human other chr14:74960810 chr14:74960811 nonsynonymous SNV 0.308 0 22 hm5C_associated_SNPs_80231 1 Likely benign not specified RCV000430078.1
3875 chr17 40717778 40717778 1 + C T rs151074271 40717776 + 40717756 40717796 41 AGCAGCTTGTGGAACAGAGCCACGTGGTGCTCAGCACCTTG AGCAGCTTGTGGAACAGAGCCATGTGGTGCTCAGCACCTTG < 41bp 0.722285861190133 0.454451216501297 0.27162707 0.32653517 prediction 0.444571722380267 Functional Loss - COASY ENSG00000068120 CDS Human protein_coding chr17:40717776 chr17:40717778 synonymous SNV . 0 23 hm5C_associated_SNPs_80259 1 Benign not specified RCV000444411.1
3875 chr19 17994573 17994573 1 + A C rs73520743 17994572 + 17994552 17994592 41 GTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGG GTTCCTGCCGGCCTGCAACACCCCGGTGAGTGGGGGCGGGG < 41bp 0.825350638149325 0.60321489754818 0.13322425 0.15690789 prediction 0.444271481202291 Functional Loss - SLC5A5 ENSG00000105641 CDS Human protein_coding chr19:17994572 chr19:17994573 synonymous SNV . 0 22 hm5C_associated_SNPs_80375 2 Benign not specified RCV000243585.1
3875 chr19 17994573 17994573 1 + A C rs73520743 17994572 + 17994552 17994592 41 GTTCCTGCCGGCCTGCAACACACCGGTGAGTGGGGGCGGGG GTTCCTGCCGGCCTGCAACACCCCGGTGAGTGGGGGCGGGG < 41bp 0.825350638149325 0.60321489754818 0.13322425 0.15690789 prediction 0.444271481202291 Functional Loss - SLC5A5 ENSG00000105641 CDS Human protein_coding chr19:17994572 chr19:17994573 synonymous SNV . 0 22 hm5C_associated_SNPs_80375 2 Likely benign Thyroid Hormonogenesis Defect RCV000346211.1
3875 chr5 76714063 76714063 1 + G A rs539447103 76714060 + 76714040 76714080 41 TCCCCATATCCCAGGGAAGCCTCGATCAGTTGGATGAGGTG TCCCCATATCCCAGGGAAGCCTCAATCAGTTGGATGAGGTG < 41bp 0.75331972447748 0.531188552090196 0.9221424 0.90843606 prediction 0.444262344774567 Functional Loss - PDE8B ENSG00000113231 CDS Human protein_coding chr5:76714060 chr5:76714063 nonsynonymous SNV 0.961 1 24 hm5C_associated_SNPs_80381 1 Likely benign Striatal Degeneration RCV000378464.1
3875 chr2 47703631 47703631 1 + C T COAD 47703629 + 47703609 47703649 41 CATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACA CATTGTGGACTGCATCTTAGCCTGAGTAGGGGCTGGTGACA < 41bp 0.722075153371679 0.424572100859235 0.12221694 0.11942962 prediction 0.444150306743358 Functional Loss - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47703629 chr2:47703631 stopgain 0.898 1 23 hm5C_associated_SNPs_80412 3 Pathogenic Lynch syndrome RCV000076405.3
3875 chr2 47703631 47703631 1 + C T COAD 47703629 + 47703609 47703649 41 CATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACA CATTGTGGACTGCATCTTAGCCTGAGTAGGGGCTGGTGACA < 41bp 0.722075153371679 0.424572100859235 0.12221694 0.11942962 prediction 0.444150306743358 Functional Loss - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47703629 chr2:47703631 stopgain 0.898 1 23 hm5C_associated_SNPs_80412 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000129341.4
3875 chr2 47703631 47703631 1 + C T COAD 47703629 + 47703609 47703649 41 CATTGTGGACTGCATCTTAGCCCGAGTAGGGGCTGGTGACA CATTGTGGACTGCATCTTAGCCTGAGTAGGGGCTGGTGACA < 41bp 0.722075153371679 0.424572100859235 0.12221694 0.11942962 prediction 0.444150306743358 Functional Loss - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47703629 chr2:47703631 stopgain 0.898 1 23 hm5C_associated_SNPs_80412 3 Pathogenic not provided RCV000202062.3
3875 chr1 150477145 150477145 1 + C T LUAD 150477142 + 150477122 150477162 41 TGGAGCGTCCAGTCCTCATTCACCGAGCAGTGCTCGGTTCT TGGAGCGTCCAGTCCTCATTCACTGAGCAGTGCTCGGTTCT < 41bp 0.733077536325264 0.511040006668613 0.4971736 0.4006113 prediction 0.444075059313301 Functional Loss - TARS2 ENSG00000143374 CDS Human protein_coding chr1:150477142 chr1:150477145 stopgain 0.994 1 24 hm5C_associated_SNPs_80439 1 Likely pathogenic not provided RCV000498022.1
3875 chr13 113773961 113773961 1 + G A rs3093250 113773958 + 113773938 113773978 41 TGCACGCACACATCAGTGCACACGGATGCACAGAGATATGC TGCACGCACACATCAGTGCACACAGATGCACAGAGATATGC < 41bp 0.722036331805882 0.478923839727421 0.09789163 0.05074969 prediction 0.444072663611763 Functional Loss - F7 ENSG00000057593 UTR3 Human protein_coding chr13:113773958 chr13:113773961 . . 0 24 hm5C_associated_SNPs_80440 2 Likely benign Factor VII deficiency RCV000283131.1
3875 chr13 113773961 113773961 1 + G A rs3093250 113773958 + 113773938 113773978 41 TGCACGCACACATCAGTGCACACGGATGCACAGAGATATGC TGCACGCACACATCAGTGCACACAGATGCACAGAGATATGC < 41bp 0.722036331805882 0.478923839727421 0.09789163 0.05074969 prediction 0.444072663611763 Functional Loss - F7 ENSG00000057593 UTR3 Human protein_coding chr13:113773958 chr13:113773961 . . 0 24 hm5C_associated_SNPs_80440 2 Likely benign Factor X deficiency RCV000406253.1
3875 chr16 68835623 68835623 1 + G A UCEC 68835620 + 68835600 68835640 41 AAAGGACAGCCTATTTTTCCCTCGACACCCGATTCAAAGTG AAAGGACAGCCTATTTTTCCCTCAACACCCGATTCAAAGTG < 41bp 0.790874676519466 0.568883942737847 0.37150538 0.06684056 prediction 0.443981467563239 Functional Loss - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68835620 chr16:68835623 nonsynonymous SNV 0.318 3 24 hm5C_associated_SNPs_80479 3 Uncertain significance Hereditary diffuse gastric cancer RCV000123243.5
3875 chr16 68835623 68835623 1 + G A UCEC 68835620 + 68835600 68835640 41 AAAGGACAGCCTATTTTTCCCTCGACACCCGATTCAAAGTG AAAGGACAGCCTATTTTTCCCTCAACACCCGATTCAAAGTG < 41bp 0.790874676519466 0.568883942737847 0.37150538 0.06684056 prediction 0.443981467563239 Functional Loss - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68835620 chr16:68835623 nonsynonymous SNV 0.318 3 24 hm5C_associated_SNPs_80479 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000131154.3
3875 chr16 68835623 68835623 1 + G A UCEC 68835620 + 68835600 68835640 41 AAAGGACAGCCTATTTTTCCCTCGACACCCGATTCAAAGTG AAAGGACAGCCTATTTTTCCCTCAACACCCGATTCAAAGTG < 41bp 0.790874676519466 0.568883942737847 0.37150538 0.06684056 prediction 0.443981467563239 Functional Loss - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68835620 chr16:68835623 nonsynonymous SNV 0.318 3 24 hm5C_associated_SNPs_80479 3 Uncertain significance not specified RCV000235149.2
3875 chr2 37458898 37458898 1 + G A rs72875762 37458895 + 37458875 37458915 41 GGGGCCGTTGTGTGCCGTGGCGCGCGCAGGTAAGCGTCAGT GGGGCCGTTGTGTGCCGTGGCGCACGCAGGTAAGCGTCAGT < 41bp 0.721973129181937 0.480534872468434 0.14575052 0.033151448 prediction 0.443946258363874 Functional Loss - NDUFAF7 ENSG00000003509 CDS Human protein_coding chr2:37458895 chr2:37458898 nonsynonymous SNV 0.006 2 24 hm5C_associated_SNPs_80490 1 Benign not specified RCV000127132.1
3875 chr11 34988343 34988343 1 + T C rs61760973 34988342 + 34988322 34988362 41 GATCCCACCAGTATCAACTCCTGGACAACCCAATGCAGTGG GATCCCACCAGTATCAACTCCCGGACAACCCAATGCAGTGG < 41bp 0.721923221920956 0.461773305053881 0.040320754 0.05539909 prediction 0.443846443841911 Functional Loss - PDHX ENSG00000110435 CDS Human protein_coding chr11:34988342 chr11:34988343 synonymous SNV . 0 22 hm5C_associated_SNPs_80533 2 Benign not specified RCV000127416.2
3875 chr11 34988343 34988343 1 + T C rs61760973 34988342 + 34988322 34988362 41 GATCCCACCAGTATCAACTCCTGGACAACCCAATGCAGTGG GATCCCACCAGTATCAACTCCCGGACAACCCAATGCAGTGG < 41bp 0.721923221920956 0.461773305053881 0.040320754 0.05539909 prediction 0.443846443841911 Functional Loss - PDHX ENSG00000110435 CDS Human protein_coding chr11:34988342 chr11:34988343 synonymous SNV . 0 22 hm5C_associated_SNPs_80533 2 Benign Pyruvate dehydrogenase complex deficiency RCV000408410.1
3875 chr2 133402949 133402949 1 + G A rs61735719 133402951 - 133402931 133402971 41 GCGCTGTCGGTGGTGGAGTGCGCATGTACGCGCAGGCGCTT GCGCTGTCGGTGGTGGAGTGCGTATGTACGCGCAGGCGCTT < 41bp 0.760725598529434 0.538851748953463 0.19201049 0.11341259 prediction 0.443747699151942 Functional Loss - GPR39 ENSG00000183840 CDS Human protein_coding chr2:133402951 chr2:133402949 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_80561 1 Uncertain significance not specified RCV000202969.1
3875 chr7 75615287 75615287 1 + G A rs1057870 75615284 + 75615264 75615304 41 CTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTA CTGTACTACGGCTGCCGCCGCTCAGATGAGGACTACCTGTA < 41bp 0.798966874587496 0.577158696204189 0.3989119 0.19141507 prediction 0.443616356766614 Functional Loss - POR ENSG00000127948 CDS Human protein_coding chr7:75615284 chr7:75615287 synonymous SNV . 0 24 hm5C_associated_SNPs_80615 2 Benign not specified RCV000243975.1
3875 chr7 75615287 75615287 1 + G A rs1057870 75615284 + 75615264 75615304 41 CTGTACTACGGCTGCCGCCGCTCGGATGAGGACTACCTGTA CTGTACTACGGCTGCCGCCGCTCAGATGAGGACTACCTGTA < 41bp 0.798966874587496 0.577158696204189 0.3989119 0.19141507 prediction 0.443616356766614 Functional Loss - POR ENSG00000127948 CDS Human protein_coding chr7:75615284 chr7:75615287 synonymous SNV . 0 24 hm5C_associated_SNPs_80615 2 Likely benign Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis RCV000356109.1
3875 chr10 43604510 43604510 1 + G A SKCM 43604507 + 43604487 43604527 41 CTCAACCGGAACCTCTCCATCTCGGAGAACCGCACCATGCA CTCAACCGGAACCTCTCCATCTCAGAGAACCGCACCATGCA < 41bp 0.721766318025598 0.47162189689625 0.9520107 0.79083914 prediction 0.443532636051196 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43604507 chr10:43604510 synonymous SNV . 0 24 hm5C_associated_SNPs_80639 3 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000123289.1
3875 chr10 43604510 43604510 1 + G A SKCM 43604507 + 43604487 43604527 41 CTCAACCGGAACCTCTCCATCTCGGAGAACCGCACCATGCA CTCAACCGGAACCTCTCCATCTCAGAGAACCGCACCATGCA < 41bp 0.721766318025598 0.47162189689625 0.9520107 0.79083914 prediction 0.443532636051196 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43604507 chr10:43604510 synonymous SNV . 0 24 hm5C_associated_SNPs_80639 3 Likely benign Multiple endocrine neoplasia, type 2b RCV000410870.1
3875 chr10 43604510 43604510 1 + G A SKCM 43604507 + 43604487 43604527 41 CTCAACCGGAACCTCTCCATCTCGGAGAACCGCACCATGCA CTCAACCGGAACCTCTCCATCTCAGAGAACCGCACCATGCA < 41bp 0.721766318025598 0.47162189689625 0.9520107 0.79083914 prediction 0.443532636051196 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43604507 chr10:43604510 synonymous SNV . 0 24 hm5C_associated_SNPs_80639 3 Likely benign Multiple endocrine neoplasia, type 2a RCV000412429.1
3875 chr1 156100449 156100449 1 + G T STAD 156100446 + 156100426 156100466 41 TGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGG TGACCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGG < 41bp 0.721721371013323 0.32454617177352 0.1164608 0.094805986 prediction 0.443442742026646 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100446 chr1:156100449 nonsynonymous SNV 0.998 5 24 hm5C_associated_SNPs_80667 4 Pathogenic Familial partial lipodystrophy 2 RCV000015577.29
3875 chr1 156100449 156100449 1 + G T STAD 156100446 + 156100426 156100466 41 TGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGG TGACCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGG < 41bp 0.721721371013323 0.32454617177352 0.1164608 0.094805986 prediction 0.443442742026646 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100446 chr1:156100449 nonsynonymous SNV 0.998 5 24 hm5C_associated_SNPs_80667 4 Pathogenic Hutchinson-Gilford progeria syndrome, childhood-onset RCV000015578.29
3875 chr1 156100449 156100449 1 + G T STAD 156100446 + 156100426 156100466 41 TGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGG TGACCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGG < 41bp 0.721721371013323 0.32454617177352 0.1164608 0.094805986 prediction 0.443442742026646 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100446 chr1:156100449 nonsynonymous SNV 0.998 5 24 hm5C_associated_SNPs_80667 4 not provided not provided RCV000057399.1
3875 chr1 156100449 156100449 1 + G T STAD 156100446 + 156100426 156100466 41 TGACCTGATAGCTGCTCAGGCTCGGCTGAAGGACCTGGAGG TGACCTGATAGCTGCTCAGGCTCTGCTGAAGGACCTGGAGG < 41bp 0.721721371013323 0.32454617177352 0.1164608 0.094805986 prediction 0.443442742026646 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100446 chr1:156100449 nonsynonymous SNV 0.998 5 24 hm5C_associated_SNPs_80667 4 Pathogenic Charcot-Marie-Tooth disease RCV000192237.1
3875 chr17 37822049 37822049 1 + C T rs45458802 37822047 + 37822027 37822067 41 TGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCG TGCCAGGTGCTGGTGCAGCGCTTGCCCTGGCTGATGATGCG < 41bp 0.721704774114449 0.47215909033553 0.25314793 0.2093971 prediction 0.443409548228898 Functional Loss - TCAP ENSG00000173991 CDS Human protein_coding chr17:37822047 chr17:37822049 nonsynonymous SNV 0.479 2 23 hm5C_associated_SNPs_80683 4 Benign not specified RCV000037792.5
3875 chr17 37822049 37822049 1 + C T rs45458802 37822047 + 37822027 37822067 41 TGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCG TGCCAGGTGCTGGTGCAGCGCTTGCCCTGGCTGATGATGCG < 41bp 0.721704774114449 0.47215909033553 0.25314793 0.2093971 prediction 0.443409548228898 Functional Loss - TCAP ENSG00000173991 CDS Human protein_coding chr17:37822047 chr17:37822049 nonsynonymous SNV 0.479 2 23 hm5C_associated_SNPs_80683 4 Benign Dilated cardiomyopathy 1N RCV000232935.2
3875 chr17 37822049 37822049 1 + C T rs45458802 37822047 + 37822027 37822067 41 TGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCG TGCCAGGTGCTGGTGCAGCGCTTGCCCTGGCTGATGATGCG < 41bp 0.721704774114449 0.47215909033553 0.25314793 0.2093971 prediction 0.443409548228898 Functional Loss - TCAP ENSG00000173991 CDS Human protein_coding chr17:37822047 chr17:37822049 nonsynonymous SNV 0.479 2 23 hm5C_associated_SNPs_80683 4 Benign Primary familial hypertrophic cardiomyopathy RCV000232935.2
3875 chr17 37822049 37822049 1 + C T rs45458802 37822047 + 37822027 37822067 41 TGCCAGGTGCTGGTGCAGCGCTCGCCCTGGCTGATGATGCG TGCCAGGTGCTGGTGCAGCGCTTGCCCTGGCTGATGATGCG < 41bp 0.721704774114449 0.47215909033553 0.25314793 0.2093971 prediction 0.443409548228898 Functional Loss - TCAP ENSG00000173991 CDS Human protein_coding chr17:37822047 chr17:37822049 nonsynonymous SNV 0.479 2 23 hm5C_associated_SNPs_80683 4 Benign Cardiovascular phenotype RCV000245466.1
3875 chr7 99702897 99702897 1 + G A UCEC 99702894 + 99702874 99702914 41 GGAATCCGGGTCGATGAAGTCTCGTTTCACAGCTCTGTGAA GGAATCCGGGTCGATGAAGTCTCATTTCACAGCTCTGTGAA < 41bp 0.780605436864566 0.558908651632954 0.18842044 0.14878029 prediction 0.443393570463223 Functional Loss - AP4M1 ENSG00000221838 CDS Human protein_coding chr7:99702894 chr7:99702897 nonsynonymous SNV . 0 24 hm5C_associated_SNPs_80687 1 Uncertain significance not specified RCV000194159.1
3875 chr20 45357995 45357995 1 + C T rs563376340 45357993 + 45357973 45358013 41 CCCGCCCTCCTGTTTCCAGGCACCATCGGCTTGTCCTGGAC CCCGCCCTCCTGTTTCCAGGCATCATCGGCTTGTCCTGGAC < 41bp 0.721616738598233 0.430369115053637 0.036601633 0.07287642 prediction 0.443233477196466 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45357993 chr20:45357995 nonsynonymous SNV 0.756 0 23 hm5C_associated_SNPs_80750 2 Uncertain significance not specified RCV000198548.1
3875 chr20 45357995 45357995 1 + C T rs563376340 45357993 + 45357973 45358013 41 CCCGCCCTCCTGTTTCCAGGCACCATCGGCTTGTCCTGGAC CCCGCCCTCCTGTTTCCAGGCATCATCGGCTTGTCCTGGAC < 41bp 0.721616738598233 0.430369115053637 0.036601633 0.07287642 prediction 0.443233477196466 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45357993 chr20:45357995 nonsynonymous SNV 0.756 0 23 hm5C_associated_SNPs_80750 2 Uncertain significance Arterial tortuosity syndrome RCV000477467.1
3875 chr19 49675017 49675017 1 + G T rs61732831 49675015 + 49674995 49675035 41 CCAAAGGGGACCTTGAGGTCCTGCAGGCCCAGGTATGACAC CCAAAGGGGACCTTGAGGTCCTTCAGGCCCAGGTATGACAC < 41bp 0.721376829540535 0.384015855585805 0.28096867 0.1835339 prediction 0.442753659081069 Functional Loss - TRPM4 ENSG00000130529 CDS Human protein_coding chr19:49675015 chr19:49675017 synonymous SNV . 0 23 hm5C_associated_SNPs_80942 2 Likely benign Progressive familial heart block RCV000293611.1
3875 chr19 49675017 49675017 1 + G T rs61732831 49675015 + 49674995 49675035 41 CCAAAGGGGACCTTGAGGTCCTGCAGGCCCAGGTATGACAC CCAAAGGGGACCTTGAGGTCCTTCAGGCCCAGGTATGACAC < 41bp 0.721376829540535 0.384015855585805 0.28096867 0.1835339 prediction 0.442753659081069 Functional Loss - TRPM4 ENSG00000130529 CDS Human protein_coding chr19:49675015 chr19:49675017 synonymous SNV . 0 23 hm5C_associated_SNPs_80942 2 Benign not specified RCV000421232.1
3875 chr17 38240216 38240216 1 + C T rs2230701 38240213 + 38240193 38240233 41 TGCCGCTTCAAGAAGTGCATCGCCGTGGGCATGGCCATGGA TGCCGCTTCAAGAAGTGCATCGCTGTGGGCATGGCCATGGA < 41bp 0.739298123120182 0.518034007691742 0.45229512 0.24068996 prediction 0.442528230856878 Functional Loss - THRA ENSG00000126351 CDS Human protein_coding chr17:38240213 chr17:38240216 synonymous SNV . 0 24 hm5C_associated_SNPs_81026 1 Benign not specified RCV000249881.1
3875 chr10 121429563 121429563 1 + A T rs140594879 121429559 + 121429539 121429579 41 GCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGA GCAGCGATTCCGAACTGAGGCGGCTGCAGCGGCTCCTCAGA < 41bp 0.89749454980121 0.676244134155688 0.9000081 0.9144417 prediction 0.442500831291044 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429559 chr10:121429563 synonymous SNV . 0 25 hm5C_associated_SNPs_81035 5 Likely benign Myofibrillar Myopathy, Dominant RCV000306329.1
3875 chr10 121429563 121429563 1 + A T rs140594879 121429559 + 121429539 121429579 41 GCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGA GCAGCGATTCCGAACTGAGGCGGCTGCAGCGGCTCCTCAGA < 41bp 0.89749454980121 0.676244134155688 0.9000081 0.9144417 prediction 0.442500831291044 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429559 chr10:121429563 synonymous SNV . 0 25 hm5C_associated_SNPs_81035 5 Likely benign Dilated Cardiomyopathy, Dominant RCV000346968.1
3875 chr10 121429563 121429563 1 + A T rs140594879 121429559 + 121429539 121429579 41 GCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGA GCAGCGATTCCGAACTGAGGCGGCTGCAGCGGCTCCTCAGA < 41bp 0.89749454980121 0.676244134155688 0.9000081 0.9144417 prediction 0.442500831291044 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429559 chr10:121429563 synonymous SNV . 0 25 hm5C_associated_SNPs_81035 5 Likely benign not specified RCV000421835.1
3875 chr10 121429563 121429563 1 + A T rs140594879 121429559 + 121429539 121429579 41 GCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGA GCAGCGATTCCGAACTGAGGCGGCTGCAGCGGCTCCTCAGA < 41bp 0.89749454980121 0.676244134155688 0.9000081 0.9144417 prediction 0.442500831291044 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429559 chr10:121429563 synonymous SNV . 0 25 hm5C_associated_SNPs_81035 5 Likely benign Dilated cardiomyopathy 1HH RCV000464415.1
3875 chr10 121429563 121429563 1 + A T rs140594879 121429559 + 121429539 121429579 41 GCAGCGATTCCGAACTGAGGCGGCAGCAGCGGCTCCTCAGA GCAGCGATTCCGAACTGAGGCGGCTGCAGCGGCTCCTCAGA < 41bp 0.89749454980121 0.676244134155688 0.9000081 0.9144417 prediction 0.442500831291044 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429559 chr10:121429563 synonymous SNV . 0 25 hm5C_associated_SNPs_81035 5 Likely benign Myofibrillar myopathy, BAG3-related RCV000464415.1
3875 chr4 187112682 187112682 1 + A C rs7662717 187112681 + 187112661 187112701 41 CGGCGCAGCCTCCGGGCCTCCAGTGCAATCACTACGCCCTG CGGCGCAGCCTCCGGGCCTCCCGTGCAATCACTACGCCCTG < 41bp 0.790454314171653 0.569434452446063 0.62119037 0.8774544 prediction 0.442039723451181 Functional Loss - CYP4V2 ENSG00000145476 UTR5 Human protein_coding chr4:187112681 chr4:187112682 . . 0 22 hm5C_associated_SNPs_81178 2 Benign Bietti crystalline corneoretinal dystrophy RCV000343556.1
3875 chr4 187112682 187112682 1 + A C rs7662717 187112681 + 187112661 187112701 41 CGGCGCAGCCTCCGGGCCTCCAGTGCAATCACTACGCCCTG CGGCGCAGCCTCCGGGCCTCCCGTGCAATCACTACGCCCTG < 41bp 0.790454314171653 0.569434452446063 0.62119037 0.8774544 prediction 0.442039723451181 Functional Loss - CYP4V2 ENSG00000145476 UTR5 Human protein_coding chr4:187112681 chr4:187112682 . . 0 22 hm5C_associated_SNPs_81178 2 Benign Corneal Dystrophy, Recessive RCV000404040.1
3875 chr3 148712035 148712035 1 + C T rs61733452 148712033 + 148712013 148712053 41 CCACCAGGAGGCTGGTCGTGCTCGCCACCCCTCAGGTCTCA CCACCAGGAGGCTGGTCGTGCTTGCCACCCCTCAGGTCTCA < 41bp 0.720909017430666 0.441202099786677 0.24010396 0.10824072 prediction 0.441818034861332 Functional Loss - GYG1 ENSG00000163754 CDS Human protein_coding chr3:148712033 chr3:148712035 synonymous SNV . 0 23 hm5C_associated_SNPs_81258 1 Benign not specified RCV000433572.1
3875 chr15 75182424 75182424 1 + C T rs143982014 75182422 + 75182402 75182442 41 GCAGGGGGCGAGCATGGCCGCTCCGCGAGGTGAGCCATTGG GCAGGGGGCGAGCATGGCCGCTTCGCGAGGTGAGCCATTGG < 41bp 0.757173593209193 0.536292750904064 0.3966211 0.27244443 prediction 0.441761684610259 Functional Loss - MPI ENSG00000178802 CDS Human protein_coding chr15:75182422 chr15:75182424 nonsynonymous SNV 0.016 1 23 hm5C_associated_SNPs_81276 2 Uncertain significance Congenital disorder of glycosylation RCV000339640.1
3875 chr15 75182424 75182424 1 + C T rs143982014 75182422 + 75182402 75182442 41 GCAGGGGGCGAGCATGGCCGCTCCGCGAGGTGAGCCATTGG GCAGGGGGCGAGCATGGCCGCTTCGCGAGGTGAGCCATTGG < 41bp 0.757173593209193 0.536292750904064 0.3966211 0.27244443 prediction 0.441761684610259 Functional Loss - MPI ENSG00000178802 CDS Human protein_coding chr15:75182422 chr15:75182424 nonsynonymous SNV 0.016 1 23 hm5C_associated_SNPs_81276 2 other not specified RCV000391232.2
3875 chr2 71190384 71190384 1 + C T rs2072462 71190382 + 71190362 71190402 41 CCATCTACGAGCGGGCGGGCCGCGTGGAGGGTCGGGGAGGA CCATCTACGAGCGGGCGGGCCGTGTGGAGGGTCGGGGAGGA < 41bp 0.720814166666843 0.439938141411812 0.59393406 0.4961144 prediction 0.441628333333686 Functional Loss - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71190382 chr2:71190384 synonymous SNV . 0 23 hm5C_associated_SNPs_81330 2 Benign not specified RCV000037201.3
3875 chr2 71190384 71190384 1 + C T rs2072462 71190382 + 71190362 71190402 41 CCATCTACGAGCGGGCGGGCCGCGTGGAGGGTCGGGGAGGA CCATCTACGAGCGGGCGGGCCGTGTGGAGGGTCGGGGAGGA < 41bp 0.720814166666843 0.439938141411812 0.59393406 0.4961144 prediction 0.441628333333686 Functional Loss - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71190382 chr2:71190384 synonymous SNV . 0 23 hm5C_associated_SNPs_81330 2 Benign Renal tubular acidosis with progressive nerve deafness RCV000324556.1
3875 chr2 71192319 71192319 1 + C T rs144725809 71192317 + 71192297 71192337 41 GGCTCCCGGGTCTCCCCTCCCTCGCCACCCCAACCAGCGGC GGCTCCCGGGTCTCCCCTCCCTTGCCACCCCAACCAGCGGC < 41bp 0.724347593328434 0.503742516905051 0.105378 0.041968524 prediction 0.441210152846766 Functional Loss - ATP6V1B1 ENSG00000116039 UTR3 Human protein_coding chr2:71192317 chr2:71192319 . . 0 23 hm5C_associated_SNPs_81483 1 Uncertain significance Renal tubular acidosis with progressive nerve deafness RCV000303247.1
3875 chr10 75673101 75673101 1 + T C rs2227564 75673100 + 75673080 75673120 41 ATGTGCAGGTGGGCCTAAAGCTGCTTGTCCAAGAGTGCATG ATGTGCAGGTGGGCCTAAAGCCGCTTGTCCAAGAGTGCATG < 41bp 0.803250272163187 0.582673128218213 0.046070904 0.115190774 prediction 0.441154287889948 Functional Loss - PLAU ENSG00000122861 CDS Human protein_coding chr10:75673100 chr10:75673101 nonsynonymous SNV 0.120 0 22 hm5C_associated_SNPs_81505 1 other Alzheimer disease, late-onset, susceptibility to RCV000013052.2
3875 chr11 6411836 6411836 1 + G A rs199836262 6411833 + 6411813 6411853 41 TGTAGGAAGCGCGACAATGCCCCGCTACGGAGCGTCACTCC TGTAGGAAGCGCGACAATGCCCCACTACGGAGCGTCACTCC < 41bp 0.720552585503935 0.481846182089899 0.04651296 0.027509272 prediction 0.441105171007871 Functional Loss - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6411833 chr11:6411836 nonsynonymous SNV 0.267 0 24 hm5C_associated_SNPs_81524 1 Uncertain significance not specified RCV000397745.1
3875 chr7 116436149 116436149 1 + C T UCEC 116436147 + 116436127 116436167 41 CGCTGATGATGAGGTGGACACACGACCAGCCTCCTTCTGGG CGCTGATGATGAGGTGGACACATGACCAGCCTCCTTCTGGG < 41bp 0.807538409271328 0.587041432191231 0.34998244 0.27212924 prediction 0.440993954160194 Functional Loss - MET ENSG00000105976 CDS Human protein_coding chr7:116436147 chr7:116436149 stopgain 0.501 0 23 hm5C_associated_SNPs_81562 1 Uncertain significance Renal cell carcinoma, papillary, 1 RCV000168244.3
3875 chr18 60052935 60052935 1 + G T rs78622775 60052932 + 60052912 60052952 41 GTCCCACCATGTTACCCAGCCTGGTCTCAAACTCCCCAGCT GTCCCACCATGTTACCCAGCCTGTTCTCAAACTCCCCAGCT < 41bp 0.720458322907541 0.318875177780292 0.05514899 0.037941396 prediction 0.440916645815082 Functional Loss - TNFRSF11A ENSG00000141655 UTR3 Human protein_coding chr18:60052932 chr18:60052935 . . 0 24 hm5C_associated_SNPs_81589 2 Likely benign Paget disease of bone RCV000342996.1
3875 chr18 60052935 60052935 1 + G T rs78622775 60052932 + 60052912 60052952 41 GTCCCACCATGTTACCCAGCCTGGTCTCAAACTCCCCAGCT GTCCCACCATGTTACCCAGCCTGTTCTCAAACTCCCCAGCT < 41bp 0.720458322907541 0.318875177780292 0.05514899 0.037941396 prediction 0.440916645815082 Functional Loss - TNFRSF11A ENSG00000141655 UTR3 Human protein_coding chr18:60052932 chr18:60052935 . . 0 24 hm5C_associated_SNPs_81589 2 Likely benign Osteopetrosis RCV000400883.1
3875 chr4 100534123 100534123 1 + G A rs145444300 100534120 + 100534100 100534140 41 TTAATCGCAGCCACCCCTGACGAGGGGGAGGAGAACCTTGA TTAATCGCAGCCACCCCTGACGAAGGGGAGGAGAACCTTGA < 41bp 0.758923601377744 0.53847665381208 0.8996273 0.3732465 prediction 0.440893895131329 Functional Loss - MTTP ENSG00000138823 CDS Human protein_coding chr4:100534120 chr4:100534123 synonymous SNV . 0 24 hm5C_associated_SNPs_81596 1 Uncertain significance Abetalipoproteinemia RCV000375996.1
3875 chr10 115805056 115805056 1 + G C rs1801253 115805052 + 115805032 115805072 41 CCCGACTTCCGCAAGGCCTTCCAGGGACTGCTCTGCTGCGC CCCGACTTCCGCAAGGCCTTCCAGCGACTGCTCTGCTGCGC < 41bp 0.720372901275982 0.440150576397252 0.910614 0.8953452 prediction 0.440745802551965 Functional Loss - ADRB1 ENSG00000043591 CDS Human protein_coding chr10:115805052 chr10:115805056 nonsynonymous SNV 0.989 0 25 hm5C_associated_SNPs_81648 1 drug response Congestive heart failure and beta-blocker response, modifier of RCV000019322.2
3875 chr14 74706439 74706439 1 + G A UCEC 74706436 + 74706416 74706456 41 CAGCGCTCGACGGCCTGGCCCCCGGGCACTTGCTGGCGGCG CAGCGCTCGACGGCCTGGCCCCCAGGCACTTGCTGGCGGCG < 41bp 0.720254683588171 0.469133911758332 0.17286244 0.04153222 prediction 0.440509367176341 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74706436 chr14:74706439 nonsynonymous SNV 0.789 3 24 hm5C_associated_SNPs_81740 2 Uncertain significance Microphthalmia, isolated 6 RCV000342420.1
3875 chr14 74706439 74706439 1 + G A UCEC 74706436 + 74706416 74706456 41 CAGCGCTCGACGGCCTGGCCCCCGGGCACTTGCTGGCGGCG CAGCGCTCGACGGCCTGGCCCCCAGGCACTTGCTGGCGGCG < 41bp 0.720254683588171 0.469133911758332 0.17286244 0.04153222 prediction 0.440509367176341 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74706436 chr14:74706439 nonsynonymous SNV 0.789 3 24 hm5C_associated_SNPs_81740 2 Uncertain significance VSX2-related Microphthalmia RCV000394911.1
3875 chr15 40711933 40711933 1 + G A rs4923865 40711930 + 40711910 40711950 41 GAGGCAGAGAATTGCTTGAACCCGGGAGGCAGAGTTTGCAG GAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGTTTGCAG < 41bp 0.769386056177021 0.549134235672612 0.27809376 0.069523215 prediction 0.440503641008817 Functional Loss - IVD ENSG00000128928 UTR3 Human protein_coding chr15:40711930 chr15:40711933 . . 0 24 hm5C_associated_SNPs_81745 1 Benign Isovaleryl-CoA dehydrogenase deficiency RCV000266746.1
3875 chr12 121439000 121439000 1 + G A rs112986697 121438997 + 121438977 121439017 41 GGCCTCTTCCTCCCAGTAACCACGGCACCTGGGCCCTGGGG GGCCTCTTCCTCCCAGTAACCACAGCACCTGGGCCCTGGGG < 41bp 0.763558091276277 0.543447947048625 0.48529506 0.37084773 prediction 0.440220288455302 Functional Loss - HNF1A ENSG00000271769 ncRNA_exonic Human other chr12:121438997 chr12:121439000 . . 0 24 hm5C_associated_SNPs_81855 1 Likely benign not specified RCV000417949.1
3875 chr3 10191497 10191497 1 + C T KIRC 10191494 + 10191474 10191514 41 ATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTA ATACTCTGAAAGAGCGATGCCTCTAGGTTGTCCGGAGCCTA < 41bp 0.76770378056026 0.547641371802504 0.9409847 0.58577806 prediction 0.440124817515512 Functional Loss - VHL ENSG00000134086 CDS Human protein_coding chr3:10191494 chr3:10191497 stopgain 1.000 1 24 hm5C_associated_SNPs_81887 2 Likely pathogenic Von Hippel-Lindau syndrome RCV000208820.1
3875 chr3 10191497 10191497 1 + C T KIRC 10191494 + 10191474 10191514 41 ATACTCTGAAAGAGCGATGCCTCCAGGTTGTCCGGAGCCTA ATACTCTGAAAGAGCGATGCCTCTAGGTTGTCCGGAGCCTA < 41bp 0.76770378056026 0.547641371802504 0.9409847 0.58577806 prediction 0.440124817515512 Functional Loss - VHL ENSG00000134086 CDS Human protein_coding chr3:10191494 chr3:10191497 stopgain 1.000 1 24 hm5C_associated_SNPs_81887 2 Pathogenic not provided RCV000485182.1
3875 chr17 73518328 73518328 1 + A C rs77247739 73518327 + 73518307 73518347 41 AGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGC AGGAGCTGCTGCAGCGGCGGCCGGTGCAGAGGAGCCAGCGC < 41bp 0.809736739892591 0.589753701199027 0.9117723 0.89641345 prediction 0.439966077387127 Functional Loss - TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73518327 chr17:73518328 nonsynonymous SNV 0.001 0 22 hm5C_associated_SNPs_81961 2 Benign not specified RCV000082836.7
3875 chr17 73518328 73518328 1 + A C rs77247739 73518327 + 73518307 73518347 41 AGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGC AGGAGCTGCTGCAGCGGCGGCCGGTGCAGAGGAGCCAGCGC < 41bp 0.809736739892591 0.589753701199027 0.9117723 0.89641345 prediction 0.439966077387127 Functional Loss - TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73518327 chr17:73518328 nonsynonymous SNV 0.001 0 22 hm5C_associated_SNPs_81961 2 Likely benign Pontoneocerebellar hypoplasia RCV000298044.1
3875 chr11 125514440 125514440 1 + C T HNSC 125514438 + 125514418 125514458 41 GCGGTTGGTCAAAAGAATGACACGATTCTTTACCAAATTGG GCGGTTGGTCAAAAGAATGACATGATTCTTTACCAAATTGG < 41bp 0.719910668102818 0.427589731881869 0.051676214 0.10720557 prediction 0.439821336205637 Functional Loss - CHEK1 ENSG00000149554 CDS Human protein_coding chr11:125514438 chr11:125514440 stopgain 0.997 1 23 hm5C_associated_SNPs_82002 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000210167.1
3875 chr17 37880998 37880998 1 + G T READ 37880995 + 37880975 37881015 41 CCAGGAAGCATACGTGATGGCTGGTGTGGGCTCCCCATATG CCAGGAAGCATACGTGATGGCTGTTGTGGGCTCCCCATATG < 41bp 0.719899938777204 0.319859359052074 0.22512871 0.057007223 prediction 0.439799877554409 Functional Loss - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37880995 chr17:37880998 nonsynonymous SNV 0.999 4 24 hm5C_associated_SNPs_82013 1 not provided not specified RCV000150654.1
3875 chr16 47533770 47533770 1 + C T COAD 47533767 + 47533747 47533787 41 AAGATCCAGGACAGCCTATACTGCGCTGCTGGGGCCTGGGC AAGATCCAGGACAGCCTATACTGTGCTGCTGGGGCCTGGGC < 41bp 0.735149645846211 0.51526631854866 0.15710664 0.20696723 prediction 0.439766654595103 Functional Loss - PHKB ENSG00000102893 CDS Human protein_coding chr16:47533767 chr16:47533770 synonymous SNV . 0 24 hm5C_associated_SNPs_82027 2 Uncertain significance Glycogen phosphorylase kinase deficiency RCV000295658.1
3875 chr16 47533770 47533770 1 + C T COAD 47533767 + 47533747 47533787 41 AAGATCCAGGACAGCCTATACTGCGCTGCTGGGGCCTGGGC AAGATCCAGGACAGCCTATACTGTGCTGCTGGGGCCTGGGC < 41bp 0.735149645846211 0.51526631854866 0.15710664 0.20696723 prediction 0.439766654595103 Functional Loss - PHKB ENSG00000102893 CDS Human protein_coding chr16:47533767 chr16:47533770 synonymous SNV . 0 24 hm5C_associated_SNPs_82027 2 Likely benign not specified RCV000419330.1
3875 chr9 119460485 119460485 1 + G A UCEC 119460482 + 119460462 119460502 41 GGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGG GGACTTTGGAGAGAAGTTAACTCATCTGCGGGAACTTATGG < 41bp 0.719836557179769 0.482939617328294 0.40180457 0.33065164 prediction 0.439673114359538 Functional Loss - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119460482 chr9:119460485 nonsynonymous SNV 0.998 0 24 hm5C_associated_SNPs_82062 2 Uncertain significance not specified RCV000373960.1
3875 chr9 119460485 119460485 1 + G A UCEC 119460482 + 119460462 119460502 41 GGACTTTGGAGAGAAGTTAACTCGTCTGCGGGAACTTATGG GGACTTTGGAGAGAAGTTAACTCATCTGCGGGAACTTATGG < 41bp 0.719836557179769 0.482939617328294 0.40180457 0.33065164 prediction 0.439673114359538 Functional Loss - TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119460482 chr9:119460485 nonsynonymous SNV 0.998 0 24 hm5C_associated_SNPs_82062 2 Uncertain significance Bardet-Biedl syndrome RCV000465900.1
3875 chr22 31010409 31010409 1 + C T rs144652799 31010407 + 31010387 31010427 41 GCATTCTGGCCCTGTGTCTCCACCAGAAGCGGGTCCATGAC GCATTCTGGCCCTGTGTCTCCATCAGAAGCGGGTCCATGAC < 41bp 0.872457378270868 0.652634315404983 0.17841774 0.35061228 prediction 0.439646125731769 Functional Loss - TCN2 ENSG00000185339 CDS Human protein_coding chr22:31010407 chr22:31010409 synonymous SNV . 0 23 hm5C_associated_SNPs_82073 1 Uncertain significance Transcobalamin II deficiency RCV000358554.1
3875 chr10 18828455 18828455 1 + C T rs61733967 18828453 + 18828433 18828473 41 ACAACCACAGAGACGAGACCCACGGGAGCAGTGACCACAGA ACAACCACAGAGACGAGACCCATGGGAGCAGTGACCACAGA < 41bp 0.719785081792088 0.482906570746982 0.40846908 0.4854309 prediction 0.439570163584176 Functional Loss - CACNB2 ENSG00000165995 CDS Human protein_coding chr10:18828453 chr10:18828455 synonymous SNV . 0 23 hm5C_associated_SNPs_82101 3 Benign not specified RCV000124110.3
3875 chr10 18828455 18828455 1 + C T rs61733967 18828453 + 18828433 18828473 41 ACAACCACAGAGACGAGACCCACGGGAGCAGTGACCACAGA ACAACCACAGAGACGAGACCCATGGGAGCAGTGACCACAGA < 41bp 0.719785081792088 0.482906570746982 0.40846908 0.4854309 prediction 0.439570163584176 Functional Loss - CACNB2 ENSG00000165995 CDS Human protein_coding chr10:18828453 chr10:18828455 synonymous SNV . 0 23 hm5C_associated_SNPs_82101 3 Benign Brugada syndrome 4 RCV000206606.3
3875 chr10 18828455 18828455 1 + C T rs61733967 18828453 + 18828433 18828473 41 ACAACCACAGAGACGAGACCCACGGGAGCAGTGACCACAGA ACAACCACAGAGACGAGACCCATGGGAGCAGTGACCACAGA < 41bp 0.719785081792088 0.482906570746982 0.40846908 0.4854309 prediction 0.439570163584176 Functional Loss - CACNB2 ENSG00000165995 CDS Human protein_coding chr10:18828453 chr10:18828455 synonymous SNV . 0 23 hm5C_associated_SNPs_82101 3 Likely benign Brugada syndrome RCV000363828.1
3875 chr14 75476071 75476071 1 + G C rs4556 75476067 + 75476047 75476087 41 CCCGTAACAAGGGCACACATCCAGGACTGTGTCTTGCCTTT CCCGTAACAAGGGCACACATCCAGCACTGTGTCTTGCCTTT < 41bp 0.719770102447346 0.434061772176036 0.91838825 0.24515113 prediction 0.439540204894693 Functional Loss - EIF2B2 ENSG00000119718 UTR3 Human protein_coding chr14:75476067 chr14:75476071 . . 0 25 hm5C_associated_SNPs_82109 2 Benign Leukoencephalopathy with vanishing white matter RCV000295805.1
3875 chr14 75476071 75476071 1 + G C rs4556 75476067 + 75476047 75476087 41 CCCGTAACAAGGGCACACATCCAGGACTGTGTCTTGCCTTT CCCGTAACAAGGGCACACATCCAGCACTGTGTCTTGCCTTT < 41bp 0.719770102447346 0.434061772176036 0.91838825 0.24515113 prediction 0.439540204894693 Functional Loss - EIF2B2 ENSG00000119718 UTR3 Human protein_coding chr14:75476067 chr14:75476071 . . 0 25 hm5C_associated_SNPs_82109 2 Likely benign Lynch syndrome RCV000299748.1
3875 chr1 115576687 115576687 1 + G A rs190110651 115576684 + 115576664 115576704 41 TCTACAGGACTGTAGAAATACCAGGATGCCCACTCCATGTT TCTACAGGACTGTAGAAATACCAAGATGCCCACTCCATGTT < 41bp 0.756542828394526 0.536916907331061 0.12881091 0.06587049 prediction 0.43925184212693 Functional Loss - TSHB ENSG00000134200 CDS Human protein_coding chr1:115576684 chr1:115576687 nonsynonymous SNV 1.000 4 24 hm5C_associated_SNPs_82190 1 Uncertain significance Congenital hypothyroidism RCV000297376.1
3875 chr19 11094881 11094881 1 + G A rs529632222 11094878 + 11094858 11094898 41 ACTCCTCGGCCAGGTCCTTCCCCGGGCCCTGGCCCTTCCCC ACTCCTCGGCCAGGTCCTTCCCCAGGCCCTGGCCCTTCCCC < 41bp 0.766892185977927 0.547301117212452 0.9220497 0.8605392 prediction 0.439182137530951 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11094878 chr19:11094881 synonymous SNV . 0 24 hm5C_associated_SNPs_82204 1 Benign Rhabdoid tumor predisposition syndrome 2 RCV000232899.2
3875 chr6 106553435 106553435 1 + C T rs77256382 106553433 + 106553413 106553453 41 ATGCTCAACCCCACTTCTCTCCCGAGCTCGCTGCCCTCAGA ATGCTCAACCCCACTTCTCTCCTGAGCTCGCTGCCCTCAGA < 41bp 0.834282082497565 0.614821382987187 0.69729674 0.40628043 prediction 0.438921399020755 Functional Loss - PRDM1 ENSG00000057657 CDS Human protein_coding chr6:106553433 chr6:106553435 nonsynonymous SNV 0.004 4 23 hm5C_associated_SNPs_82301 1 not provided not specified RCV000121873.1
3875 chr15 42694998 42694998 1 + G A rs150226817 42694995 + 42694975 42695015 41 CTCTCCCCATCTCTCAGATGCACGGGAACAAGCAGCACCTG CTCTCCCCATCTCTCAGATGCACAGGAACAAGCAGCACCTG < 41bp 0.767663533787942 0.548310625467919 0.111563325 0.099024504 prediction 0.438705816640047 Functional Loss - CAPN3 ENSG00000092529 CDS Human protein_coding chr15:42694995 chr15:42694998 nonsynonymous SNV 0.845 4 24 hm5C_associated_SNPs_82381 1 other not specified RCV000245397.2
3875 chrX 2778088 2778088 1 + C T COAD 2778086 + 2778066 2778106 41 GCGTCCAAGCGGGGGAAGCACGCGCGTCTCCTGGTCACACA GCGTCCAAGCGGGGGAAGCACGTGCGTCTCCTGGTCACACA < 41bp 0.823291492520434 0.60400044744949 0.55625445 0.56976384 prediction 0.438582090141887 Functional Loss - GYG2 ENSG00000056998 CDS Human protein_coding chrX:2778086 chrX:2778088 synonymous SNV . 0 23 hm5C_associated_SNPs_82422 1 Likely benign not specified RCV000418845.1
3875 chr9 2039793 2039793 1 + A C rs62534884 2039792 + 2039772 2039812 41 AGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG AGCAACAGCAGCAGCAGCAGCCGCAGCAGCAGCAGCAGCAG < 41bp 0.814710750504385 0.595663344862657 0.29359952 0.1249851 prediction 0.438094811283458 Functional Loss - SMARCA2 ENSG00000080503 CDS Human protein_coding chr9:2039792 chr9:2039793 nonsynonymous SNV 0.908 0 22 hm5C_associated_SNPs_82605 2 Benign not specified RCV000114294.1
3875 chr9 2039793 2039793 1 + A C rs62534884 2039792 + 2039772 2039812 41 AGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAG AGCAACAGCAGCAGCAGCAGCCGCAGCAGCAGCAGCAGCAG < 41bp 0.814710750504385 0.595663344862657 0.29359952 0.1249851 prediction 0.438094811283458 Functional Loss - SMARCA2 ENSG00000080503 CDS Human protein_coding chr9:2039792 chr9:2039793 nonsynonymous SNV 0.908 0 22 hm5C_associated_SNPs_82605 2 Benign Nicolaides-Baraitser syndrome RCV000351026.1
3875 chr2 1499831 1499831 1 + C T LUSC 1499829 + 1499809 1499849 41 GCTGGAGAAGCACTCCCTGTCTCGGGTCATCTGTGACAACA GCTGGAGAAGCACTCCCTGTCTTGGGTCATCTGTGACAACA < 41bp 0.842252906689995 0.623215689460003 0.13140327 0.13572335 prediction 0.438074434459984 Functional Loss - TPO ENSG00000115705 CDS Human protein_coding chr2:1499829 chr2:1499831 nonsynonymous SNV 0.636 4 23 hm5C_associated_SNPs_82610 1 Pathogenic Deficiency of iodide peroxidase RCV000004266.3
3875 chr17 37863262 37863262 1 + G T rs546886845 37863259 + 37863239 37863279 41 CCAGTGTGCACCGGCACAGACATGAAGCTGCGGCTCCCTGC CCAGTGTGCACCGGCACAGACATTAAGCTGCGGCTCCCTGC < 41bp 0.718937464602892 0.331255083284329 0.061450273 0.057783544 prediction 0.437874929205785 Functional Loss - ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37863259 chr17:37863262 nonsynonymous SNV 1.000 0 24 hm5C_associated_SNPs_82688 1 not provided not specified RCV000120747.1
3875 chrX 47040962 47040962 1 + C T CESC 47040960 + 47040940 47040980 41 TGTGTCGATGCAGGCTTTCTCTCGCGCCCAGCCTGGTGCTG TGTGTCGATGCAGGCTTTCTCTTGCGCCCAGCCTGGTGCTG < 41bp 0.827963574266701 0.609225078298965 0.37486637 0.22335741 prediction 0.437476991935472 Functional Loss - RBM10 ENSG00000182872 CDS Human protein_coding chrX:47040960 chrX:47040962 nonsynonymous SNV 0.699 2 23 hm5C_associated_SNPs_82844 1 Uncertain significance not specified RCV000294035.1
3875 chr1 76199277 76199277 1 + A C rs74090726 76199276 + 76199256 76199296 41 AGAATTGGCTTATGGATGTACAGGGGTTCAGACTGCTATTG AGAATTGGCTTATGGATGTACCGGGGTTCAGACTGCTATTG < 41bp 0.790551534606936 0.57184538564869 0.89408123 0.91911995 prediction 0.437412297916492 Functional Loss - ACADM ENSG00000117054 CDS Human protein_coding chr1:76199276 chr1:76199277 synonymous SNV . 0 22 hm5C_associated_SNPs_82872 3 other MCAD deficiency, modifier of RCV000003783.3
3875 chr1 76199277 76199277 1 + A C rs74090726 76199276 + 76199256 76199296 41 AGAATTGGCTTATGGATGTACAGGGGTTCAGACTGCTATTG AGAATTGGCTTATGGATGTACCGGGGTTCAGACTGCTATTG < 41bp 0.790551534606936 0.57184538564869 0.89408123 0.91911995 prediction 0.437412297916492 Functional Loss - ACADM ENSG00000117054 CDS Human protein_coding chr1:76199276 chr1:76199277 synonymous SNV . 0 22 hm5C_associated_SNPs_82872 3 Benign not specified RCV000077887.6
3875 chr1 76199277 76199277 1 + A C rs74090726 76199276 + 76199256 76199296 41 AGAATTGGCTTATGGATGTACAGGGGTTCAGACTGCTATTG AGAATTGGCTTATGGATGTACCGGGGTTCAGACTGCTATTG < 41bp 0.790551534606936 0.57184538564869 0.89408123 0.91911995 prediction 0.437412297916492 Functional Loss - ACADM ENSG00000117054 CDS Human protein_coding chr1:76199276 chr1:76199277 synonymous SNV . 0 22 hm5C_associated_SNPs_82872 3 other Medium-chain acyl-coenzyme A dehydrogenase deficiency RCV000211524.2
3875 chr3 10183748 10183748 1 + C T KIRC 10183746 + 10183726 10183766 41 GGTGAACTCGCGCGAGCCCTCCCAGGTCATCTTCTGCAATC GGTGAACTCGCGCGAGCCCTCCTAGGTCATCTTCTGCAATC < 41bp 0.766124242409312 0.547756061864635 0.08279514 0.055294037 prediction 0.436736361089354 Functional Loss - VHL ENSG00000134086 CDS Human protein_coding chr3:10183746 chr3:10183748 stopgain 0.998 0 23 hm5C_associated_SNPs_83079 1 Pathogenic Von Hippel-Lindau syndrome RCV000208804.1
3875 chr19 3585664 3585664 1 + G A rs150473323 3585661 + 3585641 3585681 41 CGCGCGTCTGCGCCCCCGCCCGCGCCCTCGGAGCCCCCGGC CGCGCGTCTGCGCCCCCGCCCGCACCCTCGGAGCCCCCGGC < 41bp 0.799004562762436 0.580815671065246 0.25855625 0.069930345 prediction 0.43637778339438 Functional Loss - GIPC3 ENSG00000179855 CDS Human protein_coding chr19:3585661 chr19:3585664 synonymous SNV . 0 24 hm5C_associated_SNPs_83189 1 Likely benign not specified RCV000150718.2
3875 chr20 31023500 31023500 1 + C T rs62206933 31023498 + 31023478 31023518 41 ACTCTGAAGCACTGAGTCCTCACGGTGAGTCCACGGATACA ACTCTGAAGCACTGAGTCCTCATGGTGAGTCCACGGATACA < 41bp 0.718164042998982 0.452349465982188 0.20104608 0.22568825 prediction 0.436328085997965 Functional Loss - ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31023498 chr20:31023500 synonymous SNV . 0 23 hm5C_associated_SNPs_83209 1 Benign C-like syndrome RCV000269874.1
3875 chr16 23226896 23226896 1 + G A rs550094178 23226893 + 23226873 23226913 41 AGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTG AGGGGACCCTCTGCCCCACTCTGAGCTTTTCAGATACTCTG < 41bp 0.784313813794719 0.56620431652854 0.35776663 0.21905273 prediction 0.436218994532358 Functional Loss - SCNN1G ENSG00000166828 UTR3 Human protein_coding chr16:23226893 chr16:23226896 . . 0 24 hm5C_associated_SNPs_83256 2 Benign Pseudohypoaldosteronism, Type I, Recessive RCV000313805.1
3875 chr16 23226896 23226896 1 + G A rs550094178 23226893 + 23226873 23226913 41 AGGGGACCCTCTGCCCCACTCTGGGCTTTTCAGATACTCTG AGGGGACCCTCTGCCCCACTCTGAGCTTTTCAGATACTCTG < 41bp 0.784313813794719 0.56620431652854 0.35776663 0.21905273 prediction 0.436218994532358 Functional Loss - SCNN1G ENSG00000166828 UTR3 Human protein_coding chr16:23226893 chr16:23226896 . . 0 24 hm5C_associated_SNPs_83256 2 Benign Pseudoprimary hyperaldosteronism RCV000393531.1
3875 chr21 46057582 46057582 1 + A C rs76743925 46057578 + 46057558 46057598 41 ACCAGCAGTCTAGCTGCCAGCCGGATTGCTGCACCTCCTCC ACCAGCAGTCTAGCTGCCAGCCGGCTTGCTGCACCTCCTCC < 41bp 0.923226882272968 0.705137324204763 0.5256798 0.47733375 prediction 0.436179116136408 Functional Loss - KRTAP10-10 ENSG00000221859 CDS Human protein_coding chr21:46057578 chr21:46057582 nonsynonymous SNV 0.008 0 25 hm5C_associated_SNPs_83268 1 Benign not provided RCV000432141.1
3875 chr11 61213502 61213502 1 + C T COAD 61213499 + 61213479 61213519 41 ACAAAAACAAAGAGCAGAGACTGCGTGCCCCAGATCTTGAG ACAAAAACAAAGAGCAGAGACTGTGTGCCCCAGATCTTGAG < 41bp 0.722235455969578 0.504174913154125 0.13343528 0.07255775 prediction 0.436121085630905 Functional Loss - SDHAF2 ENSG00000167985;ENSG00000256591 CDS Human other chr11:61213499 chr11:61213502 nonsynonymous SNV 1.000 4 24 hm5C_associated_SNPs_83290 1 Uncertain significance Hereditary Paraganglioma-Pheochromocytoma Syndromes RCV000463394.1
3875 chr8 102571013 102571013 1 + C T rs34332949 102571010 + 102570990 102571030 41 AGCACTCCGGACAGCACATACAGCGAGAGCTTCAAGGACGC AGCACTCCGGACAGCACATACAGTGAGAGCTTCAAGGACGC < 41bp 0.727866704460315 0.509857130962001 0.40955034 0.28630924 prediction 0.436019146996628 Functional Loss - GRHL2 ENSG00000083307 CDS Human protein_coding chr8:102571010 chr8:102571013 synonymous SNV . 0 24 hm5C_associated_SNPs_83328 1 Benign not specified RCV000039464.3
3875 chr1 12921332 12921332 1 + T C rs1063796 12921331 + 12921311 12921351 41 GCCATCCTGCCTGGCCTGAGCTGCTGCTCCCAGCTCACCAC GCCATCCTGCCTGGCCTGAGCCGCTGCTCCCAGCTCACCAC < 41bp 0.762401891004869 0.544498827233801 0.04719922 0.2182563 prediction 0.435806127542135 Functional Loss - PRAMEF2 ENSG00000120952 CDS Human protein_coding chr1:12921331 chr1:12921332 nonsynonymous SNV 0.000 0 22 hm5C_associated_SNPs_83397 1 Benign not specified RCV000454698.1
3875 chr20 6759097 6759097 1 + G A rs142811428 6759094 + 6759074 6759114 41 ATAAAACCTGCAACAGCCAACTCGAAATTCCCCGTGACCAG ATAAAACCTGCAACAGCCAACTCAAAATTCCCCGTGACCAG < 41bp 0.737062748441907 0.519248256037262 0.5338728 0.16168746 prediction 0.435628984809292 Functional Loss - BMP2 ENSG00000125845 CDS Human protein_coding chr20:6759094 chr20:6759097 synonymous SNV . 0 24 hm5C_associated_SNPs_83463 1 Likely benign not specified RCV000177128.1
3875 chr1 160105036 160105036 1 + G A COAD 160105033 + 160105013 160105053 41 CCACACAGAGATCGTCTTTGCTCGAACGTCTCCCCAGCAGA CCACACAGAGATCGTCTTTGCTCAAACGTCTCCCCAGCAGA < 41bp 0.799244565408994 0.581489661433852 0.7252534 0.416184 prediction 0.435509807950284 Functional Loss - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160105033 chr1:160105036 nonsynonymous SNV 0.389 5 24 hm5C_associated_SNPs_83517 1 Pathogenic Familial hemiplegic migraine type 2 RCV000013783.19
3875 chr1 55474262 55474262 1 + G A rs33938617 55474259 + 55474239 55474279 41 GATGGAGCCGGGGACCTCCTCCCGGACAAGGAGCTGGGTTT GATGGAGCCGGGGACCTCCTCCCAGACAAGGAGCTGGGTTT < 41bp 0.717731116476901 0.480879161910033 0.8754971 0.57722676 prediction 0.435462232953801 Functional Loss - BSND ENSG00000162399 CDS Human protein_coding chr1:55474259 chr1:55474262 synonymous SNV . 0 24 hm5C_associated_SNPs_83543 2 Benign not specified RCV000039823.3
3875 chr1 55474262 55474262 1 + G A rs33938617 55474259 + 55474239 55474279 41 GATGGAGCCGGGGACCTCCTCCCGGACAAGGAGCTGGGTTT GATGGAGCCGGGGACCTCCTCCCAGACAAGGAGCTGGGTTT < 41bp 0.717731116476901 0.480879161910033 0.8754971 0.57722676 prediction 0.435462232953801 Functional Loss - BSND ENSG00000162399 CDS Human protein_coding chr1:55474259 chr1:55474262 synonymous SNV . 0 24 hm5C_associated_SNPs_83543 2 Likely benign Bartter's syndrome RCV000404025.1
3875 chr19 48343751 48343751 1 + C T rs371749408 48343749 + 48343729 48343769 41 GCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCC GCTCACTGCAAGCTCTACCTCCTGGGTTCACGCCATTCTCC < 41bp 0.717703590122279 0.497654190139545 0.2643186 0.31308043 prediction 0.435407180244559 Functional Loss - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48343749 chr19:48343751 . . 0 23 hm5C_associated_SNPs_83567 3 Likely benign Leber congenital amaurosis RCV000274724.1
3875 chr19 48343751 48343751 1 + C T rs371749408 48343749 + 48343729 48343769 41 GCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCC GCTCACTGCAAGCTCTACCTCCTGGGTTCACGCCATTCTCC < 41bp 0.717703590122279 0.497654190139545 0.2643186 0.31308043 prediction 0.435407180244559 Functional Loss - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48343749 chr19:48343751 . . 0 23 hm5C_associated_SNPs_83567 3 Likely benign Cone-Rod Dystrophy, Dominant RCV000329783.1
3875 chr19 48343751 48343751 1 + C T rs371749408 48343749 + 48343729 48343769 41 GCTCACTGCAAGCTCTACCTCCCGGGTTCACGCCATTCTCC GCTCACTGCAAGCTCTACCTCCTGGGTTCACGCCATTCTCC < 41bp 0.717703590122279 0.497654190139545 0.2643186 0.31308043 prediction 0.435407180244559 Functional Loss - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48343749 chr19:48343751 . . 0 23 hm5C_associated_SNPs_83567 3 Likely benign Retinitis Pigmentosa, Dominant RCV000364444.1
3875 chr19 11172511 11172511 1 + C T rs199852385 11172509 + 11172489 11172529 41 CTGAGCCCCGACATTCCAGTCTCGACCCCGAGCCCCTCGTT CTGAGCCCCGACATTCCAGTCTTGACCCCGAGCCCCTCGTT < 41bp 0.717682906725538 0.467682775526933 0.2241674 0.04158154 prediction 0.435365813451077 Functional Loss - SMARCA4 ENSG00000127616 UTR3 Human protein_coding chr19:11172509 chr19:11172511 . . 0 23 hm5C_associated_SNPs_83584 1 Likely benign not specified RCV000442258.1
3875 chr6 121768024 121768024 1 + C T SKCM 121768021 + 121768001 121768041 41 ACTGGAGCGCCTTAGGCAAACTCCTTGACAAGGTTCAAGCC ACTGGAGCGCCTTAGGCAAACTCTTTGACAAGGTTCAAGCC < 41bp 0.745177673361492 0.527581523872281 0.09351084 0.07691589 prediction 0.435192298978423 Functional Loss - GJA1 ENSG00000152661 CDS Human protein_coding chr6:121768021 chr6:121768024 nonsynonymous SNV 0.938 5 24 hm5C_associated_SNPs_83638 1 Pathogenic Oculodentodigital dysplasia RCV000022517.28
3875 chr8 86389403 86389403 1 + T C rs703 86389402 + 86389382 86389422 41 CGTGGCCTCCTTCCTGAATCCTTGGATTACTGGACCTACCC CGTGGCCTCCTTCCTGAATCCCTGGATTACTGGACCTACCC < 41bp 0.717584834082299 0.464298417645975 0.16454533 0.15073484 prediction 0.435169668164598 Functional Loss - CA2 ENSG00000104267 CDS Human protein_coding chr8:86389402 chr8:86389403 synonymous SNV . 0 22 hm5C_associated_SNPs_83650 2 Benign not specified RCV000242714.1
3875 chr8 86389403 86389403 1 + T C rs703 86389402 + 86389382 86389422 41 CGTGGCCTCCTTCCTGAATCCTTGGATTACTGGACCTACCC CGTGGCCTCCTTCCTGAATCCCTGGATTACTGGACCTACCC < 41bp 0.717584834082299 0.464298417645975 0.16454533 0.15073484 prediction 0.435169668164598 Functional Loss - CA2 ENSG00000104267 CDS Human protein_coding chr8:86389402 chr8:86389403 synonymous SNV . 0 22 hm5C_associated_SNPs_83650 2 Benign Osteopetrosis with renal tubular acidosis RCV000386953.1
3875 chrX 47069480 47069480 1 + G A UCEC 47069477 + 47069457 47069497 41 CACCACTGGCACACCCAGTACTCGAACAACATCCGGCAGCT CACCACTGGCACACCCAGTACTCAAACAACATCCGGCAGCT < 41bp 0.801723993084495 0.584331368176698 0.9018315 0.8840312 prediction 0.434785249815595 Functional Loss - UBA1 ENSG00000130985 CDS Human protein_coding chrX:47069477 chrX:47069480 synonymous SNV . 0 24 hm5C_associated_SNPs_83773 1 Likely benign not specified RCV000429621.1
3875 chr1 2235368 2235368 1 + C T UCEC 2235365 + 2235345 2235385 41 GCAGAAGGTTGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCT GCAGAAGGTTGTGAGCAGCCCTCTGTGTGCCGCCGCCGTCT < 41bp 0.717325213062279 0.499641929560106 0.84345686 0.48524398 prediction 0.434650426124558 Functional Loss - SKI ENSG00000157933 CDS Human protein_coding chr1:2235365 chr1:2235368 nonsynonymous SNV 0.007 4 24 hm5C_associated_SNPs_83832 1 Uncertain significance not specified RCV000200090.2
3875 chr9 38396528 38396528 1 + C T rs150776963 38396525 + 38396505 38396545 41 GATGTTGACAAAGTTGCCTTCACCGGTTCCACCGAGGTGGG GATGTTGACAAAGTTGCCTTCACTGGTTCCACCGAGGTGGG < 41bp 0.717314656558389 0.499743793206554 0.13014263 0.15704864 prediction 0.434629313116778 Functional Loss - ALDH1B1 ENSG00000137124 CDS Human protein_coding chr9:38396525 chr9:38396528 synonymous SNV . 0 24 hm5C_associated_SNPs_83839 1 Benign not specified RCV000197848.1
3875 chr9 4544640 4544640 1 + T C rs142903137 4544639 + 4544619 4544659 41 GAAATTCTACTTTGCTTTTCCTGGAGAAATTCTAATGCGGA GAAATTCTACTTTGCTTTTCCCGGAGAAATTCTAATGCGGA < 41bp 0.717275764087576 0.463466167856826 0.26167053 0.53486097 prediction 0.434551528175152 Functional Loss - SLC1A1 ENSG00000106688 CDS Human protein_coding chr9:4544639 chr9:4544640 synonymous SNV . 0 22 hm5C_associated_SNPs_83865 1 Uncertain significance Dicarboxylic aminoaciduria RCV000333800.1
3875 chr2 71191904 71191904 1 + G A rs368854893 71191901 + 71191881 71191921 41 ATCGGGAAGGACGTGCAGGCCATGAAGGCAGTAGTTGGGGA ATCGGGAAGGACGTGCAGGCCATAAAGGCAGTAGTTGGGGA < 41bp 0.789963427011566 0.572794704759392 0.20546082 0.16041145 prediction 0.434337444504348 Functional Loss - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71191901 chr2:71191904 nonsynonymous SNV 1.000 2 24 hm5C_associated_SNPs_83953 1 Uncertain significance not specified RCV000221028.1
3875 chr7 34125622 34125622 1 + C T rs10249320 34125619 + 34125599 34125639 41 AAGGGACAGTCAAGGTAAAGCTCCGGGCCCATCGAGAATGC AAGGGACAGTCAAGGTAAAGCTCTGGGCCCATCGAGAATGC < 41bp 0.717129449418722 0.48882387863449 0.19333714 0.09569478 prediction 0.434258898837444 Functional Loss - BMPER ENSG00000164619 CDS Human protein_coding chr7:34125619 chr7:34125622 nonsynonymous SNV 0.999 4 24 hm5C_associated_SNPs_83987 1 Uncertain significance Diaphanospondylodysostosis RCV000377778.1
3875 chr16 2135263 2135263 1 + C T HNSC 2135261 + 2135241 2135281 41 TTGAGCGGTCGGTGCAGCTCCTCGACCAGATCCCATCATAC TTGAGCGGTCGGTGCAGCTCCTTGACCAGATCCCATCATAC < 41bp 0.717106920840853 0.434722854687662 0.24240643 0.20703647 prediction 0.434213841681706 Functional Loss - TSC2 ENSG00000103197 CDS Human protein_coding chr16:2135261 chr16:2135263 synonymous SNV . 0 23 hm5C_associated_SNPs_84008 1 Likely benign not specified RCV000444681.1
3875 chr12 121432032 121432032 1 + C T CESC 121432030 + 121432010 121432050 41 GGGCTGGGCTCCAACCTCGTCACGGAGGTGCGTGTCTACAA GGGCTGGGCTCCAACCTCGTCATGGAGGTGCGTGTCTACAA < 41bp 0.832525340680301 0.615709012052885 0.19036704 0.28618023 prediction 0.433632657254831 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121432030 chr12:121432032 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_84217 1 Pathogenic not provided RCV000255526.1
3875 chr7 2566028 2566028 1 + G A rs12700028 2566025 + 2566005 2566045 41 AACCTGCAGCAGGTGCCCACCTCGGAGCTCCACGAGCAGGT AACCTGCAGCAGGTGCCCACCTCAGAGCTCCACGAGCAGGT < 41bp 0.794776452306367 0.577994244878322 0.7789459 0.3479824 prediction 0.43356441485609 Functional Loss - LFNG ENSG00000106003 CDS Human protein_coding chr7:2566025 chr7:2566028 synonymous SNV . 0 24 hm5C_associated_SNPs_84245 1 Benign not specified RCV000251108.1
3875 chr22 18609642 18609642 1 + C T rs362203 18609639 + 18609619 18609659 41 ACCAGCTCCTGCTTTGAGCCCAACAGCCAGATGGTGAAGTG ACCAGCTCCTGCTTTGAGCCCAATAGCCAGATGGTGAAGTG < 41bp 0.71664599076887 0.490867615793157 0.27809837 0.23265582 prediction 0.433291981537741 Functional Loss - TUBA8 ENSG00000183785 CDS Human protein_coding chr22:18609639 chr22:18609642 synonymous SNV . 0 24 hm5C_associated_SNPs_84355 1 other not specified RCV000147830.2
3875 chr1 247588068 247588068 1 + G A STAD 247588065 + 247588045 247588085 41 CAGACATCCAAGACCACCACCGCGGTGTACGTCTTCTTCCT CAGACATCCAAGACCACCACCGCAGTGTACGTCTTCTTCCT < 41bp 0.716594915605461 0.455888613306593 0.81654143 0.25480723 prediction 0.433189831210921 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588065 chr1:247588068 synonymous SNV . 0 24 hm5C_associated_SNPs_84394 1 Likely benign not specified RCV000420983.1
3875 chr8 6264130 6264130 1 + G C rs2305023 6264129 + 6264109 6264149 41 CCGCGCATGCCCAGTGCCCGCGCGCGCCGCCAGGCTCGCAA CCGCGCATGCCCAGTGCCCGCCCGCGCCGCCAGGCTCGCAA < 41bp 0.86076573602351 0.644205250164174 0.845382 0.25891042 prediction 0.433120971718672 Functional Loss - MCPH1 ENSG00000246089 ncRNA_exonic Human antisense chr8:6264129 chr8:6264130 . . 0 22 hm5C_associated_SNPs_84416 1 Benign Primary Microcephaly, Recessive RCV000365880.1
3875 chr14 90450886 90450886 1 + G A rs34452707 90450883 + 90450863 90450903 41 ATGGTTGAGCCCCTTATACCCACGAATTGCTGATGGAACCC ATGGTTGAGCCCCTTATACCCACAAATTGCTGATGGAACCC < 41bp 0.775270329463 0.558747937853502 0.3033647 0.24658266 prediction 0.433044783218997 Functional Loss - TDP1 ENSG00000042088 CDS Human protein_coding chr14:90450883 chr14:90450886 nonsynonymous SNV 0.405 1 24 hm5C_associated_SNPs_84443 1 Likely benign Spinocerebellar Ataxia, Recessive RCV000403389.1
3875 chr16 89986144 89986144 1 + C T rs1805008 89986142 + 89986122 89986162 41 CCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTG CCACAGCATCGTGACCCTGCCGTGGGCGCGGCGAGCCGTTG < 41bp 0.787983108082798 0.571535974170851 0.7120402 0.51114523 prediction 0.432894267823896 Functional Loss - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986142 chr16:89986144 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_84490 6 other Skin/hair/eye pigmentation 2, red hair/fair skin RCV000015381.28
3875 chr16 89986144 89986144 1 + C T rs1805008 89986142 + 89986122 89986162 41 CCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTG CCACAGCATCGTGACCCTGCCGTGGGCGCGGCGAGCCGTTG < 41bp 0.787983108082798 0.571535974170851 0.7120402 0.51114523 prediction 0.432894267823896 Functional Loss - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986142 chr16:89986144 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_84490 6 other Increased analgesia from kappa-opioid receptor agonist, female-specific RCV000015382.23
3875 chr16 89986144 89986144 1 + C T rs1805008 89986142 + 89986122 89986162 41 CCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTG CCACAGCATCGTGACCCTGCCGTGGGCGCGGCGAGCCGTTG < 41bp 0.787983108082798 0.571535974170851 0.7120402 0.51114523 prediction 0.432894267823896 Functional Loss - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986142 chr16:89986144 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_84490 6 other OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF RCV000015383.24
3875 chr16 89986144 89986144 1 + C T rs1805008 89986142 + 89986122 89986162 41 CCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTG CCACAGCATCGTGACCCTGCCGTGGGCGCGGCGAGCCGTTG < 41bp 0.787983108082798 0.571535974170851 0.7120402 0.51114523 prediction 0.432894267823896 Functional Loss - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986142 chr16:89986144 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_84490 6 Likely benign not specified RCV000244718.1
3875 chr16 89986144 89986144 1 + C T rs1805008 89986142 + 89986122 89986162 41 CCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTG CCACAGCATCGTGACCCTGCCGTGGGCGCGGCGAGCCGTTG < 41bp 0.787983108082798 0.571535974170851 0.7120402 0.51114523 prediction 0.432894267823896 Functional Loss - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986142 chr16:89986144 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_84490 6 Pathogenic not provided RCV000255906.1
3875 chr16 89986144 89986144 1 + C T rs1805008 89986142 + 89986122 89986162 41 CCACAGCATCGTGACCCTGCCGCGGGCGCGGCGAGCCGTTG CCACAGCATCGTGACCCTGCCGTGGGCGCGGCGAGCCGTTG < 41bp 0.787983108082798 0.571535974170851 0.7120402 0.51114523 prediction 0.432894267823896 Functional Loss - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986142 chr16:89986144 nonsynonymous SNV 0.000 1 23 hm5C_associated_SNPs_84490 6 Likely benign Malignant Melanoma Susceptibility RCV000356300.1
3875 chr12 112915480 112915480 1 + C T UCEC 112915478 + 112915458 112915498 41 ATCATACCAGGGTTGTCCTACACGATGGTGATCCCAATGAG ATCATACCAGGGTTGTCCTACATGATGGTGATCCCAATGAG < 41bp 0.716434782248272 0.41618585375296 0.2483449 0.36651427 prediction 0.432869564496544 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915478 chr12:112915480 synonymous SNV . 0 23 hm5C_associated_SNPs_84497 2 Benign Rasopathy RCV000033515.2
3875 chr12 112915480 112915480 1 + C T UCEC 112915478 + 112915458 112915498 41 ATCATACCAGGGTTGTCCTACACGATGGTGATCCCAATGAG ATCATACCAGGGTTGTCCTACATGATGGTGATCCCAATGAG < 41bp 0.716434782248272 0.41618585375296 0.2483449 0.36651427 prediction 0.432869564496544 Functional Loss - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915478 chr12:112915480 synonymous SNV . 0 23 hm5C_associated_SNPs_84497 2 Benign not specified RCV000242514.1
3875 chr3 9726588 9726588 1 + C T rs183134138 9726586 + 9726566 9726606 41 TTCCAGGATGGGCTCATCCACACGTCCCTGAAGCCCACTGA TTCCAGGATGGGCTCATCCACATGTCCCTGAAGCCCACTGA < 41bp 0.716407458129495 0.451400903665754 0.2170623 0.21364278 prediction 0.432814916258991 Functional Loss - MTMR14 ENSG00000163719 CDS Human protein_coding chr3:9726586 chr3:9726588 nonsynonymous SNV 0.884 3 23 hm5C_associated_SNPs_84514 1 Likely benign not specified RCV000174402.1
3875 chr2 74166053 74166053 1 + G A rs62641680 74166050 + 74166030 74166070 41 ATTGCAGCTGTGGGAAAGTCCACGTTTGTGAAGTTACTCAC ATTGCAGCTGTGGGAAAGTCCACATTTGTGAAGTTACTCAC < 41bp 0.783949798656963 0.567616653683008 0.0935407 0.09764138 prediction 0.432666289947911 Functional Loss - DGUOK ENSG00000114956 CDS Human protein_coding chr2:74166050 chr2:74166053 synonymous SNV . 0 24 hm5C_associated_SNPs_84567 2 Benign not specified RCV000124675.1
3875 chr2 74166053 74166053 1 + G A rs62641680 74166050 + 74166030 74166070 41 ATTGCAGCTGTGGGAAAGTCCACGTTTGTGAAGTTACTCAC ATTGCAGCTGTGGGAAAGTCCACATTTGTGAAGTTACTCAC < 41bp 0.783949798656963 0.567616653683008 0.0935407 0.09764138 prediction 0.432666289947911 Functional Loss - DGUOK ENSG00000114956 CDS Human protein_coding chr2:74166050 chr2:74166053 synonymous SNV . 0 24 hm5C_associated_SNPs_84567 2 Likely benign Mitochondrial DNA depletion syndrome RCV000384705.1
3875 chr18 48593466 48593466 1 + C T LUAD 48593464 + 48593444 48593484 41 GTCAGGTGCCTTAGTGACCACGCGGTCTTTGTACAGAGTTA GTCAGGTGCCTTAGTGACCACGTGGTCTTTGTACAGAGTTA < 41bp 0.716329096160188 0.443551504022006 0.42100486 0.5363836 prediction 0.432658192320377 Functional Loss - SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48593464 chr18:48593466 nonsynonymous SNV 0.658 5 23 hm5C_associated_SNPs_84573 1 Uncertain significance not specified RCV000480708.1
3875 chr2 121747372 121747372 1 + G A rs115052795 121747369 + 121747349 121747389 41 GAAGTGGCACCTGACCCCACCACGATGGGCAATCGCCACAG GAAGTGGCACCTGACCCCACCACAATGGGCAATCGCCACAG < 41bp 0.800532869465979 0.584257952775758 0.41247866 0.32023293 prediction 0.432549833380442 Functional Loss - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747369 chr2:121747372 synonymous SNV . 0 24 hm5C_associated_SNPs_84615 2 Benign not specified RCV000248483.1
3875 chr2 121747372 121747372 1 + G A rs115052795 121747369 + 121747349 121747389 41 GAAGTGGCACCTGACCCCACCACGATGGGCAATCGCCACAG GAAGTGGCACCTGACCCCACCACAATGGGCAATCGCCACAG < 41bp 0.800532869465979 0.584257952775758 0.41247866 0.32023293 prediction 0.432549833380442 Functional Loss - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747369 chr2:121747372 synonymous SNV . 0 24 hm5C_associated_SNPs_84615 2 Likely benign Holoprosencephaly RCV000280723.1
3875 chr19 17993010 17993010 1 + C T rs117626343 17993008 + 17992988 17993028 41 TGGCAGCCCTGTCCTCACTGCTCGGAGGAGGTGTCCTTCAG TGGCAGCCCTGTCCTCACTGCTTGGAGGAGGTGTCCTTCAG < 41bp 0.716225770441228 0.432150279680833 0.42834562 0.2961588 prediction 0.432451540882456 Functional Loss - SLC5A5 ENSG00000105641 CDS Human protein_coding chr19:17993008 chr19:17993010 synonymous SNV . 0 23 hm5C_associated_SNPs_84652 1 Uncertain significance Thyroid Hormonogenesis Defect RCV000381252.1
3875 chr22 43435812 43435812 1 + C T rs1052163 43435810 + 43435790 43435830 41 AGGTGGTGAGGACCGCTCTCCCCGAGTCTCTCGATCGGCCT AGGTGGTGAGGACCGCTCTCCCTGAGTCTCTCGATCGGCCT < 41bp 0.715958533931099 0.453536441454846 0.80453634 0.31493586 prediction 0.431917067862198 Functional Loss - TTLL1 ENSG00000100271 CDS Human protein_coding chr22:43435810 chr22:43435812 synonymous SNV . 0 23 hm5C_associated_SNPs_84848 1 Benign not specified RCV000454464.1
3875 chr13 77566147 77566147 1 + C T rs200353554 77566145 + 77566125 77566165 41 TGACGCGCAGGGGCAAGGCGCCCCGCGTCCCGGACTGGCGG TGACGCGCAGGGGCAAGGCGCCTCGCGTCCCGGACTGGCGG < 41bp 0.715924094355255 0.488902243267034 0.15095133 0.0993996 prediction 0.43184818871051 Functional Loss - CLN5 ENSG00000102805 CDS Human protein_coding chr13:77566145 chr13:77566147 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_84864 3 other not specified RCV000187062.3
3875 chr13 77566147 77566147 1 + C T rs200353554 77566145 + 77566125 77566165 41 TGACGCGCAGGGGCAAGGCGCCCCGCGTCCCGGACTGGCGG TGACGCGCAGGGGCAAGGCGCCTCGCGTCCCGGACTGGCGG < 41bp 0.715924094355255 0.488902243267034 0.15095133 0.0993996 prediction 0.43184818871051 Functional Loss - CLN5 ENSG00000102805 CDS Human protein_coding chr13:77566145 chr13:77566147 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_84864 3 Likely benign not provided RCV000429471.1
3875 chr13 77566147 77566147 1 + C T rs200353554 77566145 + 77566125 77566165 41 TGACGCGCAGGGGCAAGGCGCCCCGCGTCCCGGACTGGCGG TGACGCGCAGGGGCAAGGCGCCTCGCGTCCCGGACTGGCGG < 41bp 0.715924094355255 0.488902243267034 0.15095133 0.0993996 prediction 0.43184818871051 Functional Loss - CLN5 ENSG00000102805 CDS Human protein_coding chr13:77566145 chr13:77566147 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_84864 3 Benign Neuronal ceroid lipofuscinosis RCV000462153.1
3875 chr19 50905323 50905323 1 + C T COAD 50905321 + 50905301 50905341 41 TGGCCATCAGCCGGGACAGTCGCGGGGGGAGGGAGCTGACT TGGCCATCAGCCGGGACAGTCGTGGGGGGAGGGAGCTGACT < 41bp 0.832308247397092 0.616530262025902 0.92644584 0.9233097 prediction 0.43155597074238 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905321 chr19:50905323 synonymous SNV . 0 23 hm5C_associated_SNPs_84960 1 Likely benign Colorectal cancer 10 RCV000231952.1
3875 chr9 113530241 113530241 1 + G A rs139945437 113530238 + 113530218 113530258 41 GCCCAAGAGCTACTGGTCCACACGGCCTGGAATGAACTGAA GCCCAAGAGCTACTGGTCCACACAGCCTGGAATGAACTGAA < 41bp 0.783634523546189 0.567931162695864 0.27764422 0.1473375 prediction 0.431406721700649 Functional Loss - MUSK ENSG00000030304 CDS Human protein_coding chr9:113530238 chr9:113530241 synonymous SNV . 0 24 hm5C_associated_SNPs_85023 2 Uncertain significance Congenital Myasthenic Syndrome, Recessive RCV000324891.1
3875 chr9 113530241 113530241 1 + G A rs139945437 113530238 + 113530218 113530258 41 GCCCAAGAGCTACTGGTCCACACGGCCTGGAATGAACTGAA GCCCAAGAGCTACTGGTCCACACAGCCTGGAATGAACTGAA < 41bp 0.783634523546189 0.567931162695864 0.27764422 0.1473375 prediction 0.431406721700649 Functional Loss - MUSK ENSG00000030304 CDS Human protein_coding chr9:113530238 chr9:113530241 synonymous SNV . 0 24 hm5C_associated_SNPs_85023 2 Benign not specified RCV000326741.1
3875 chr9 140128709 140128709 1 + G A rs146097023 140128706 + 140128686 140128726 41 CGCGGCCGCGTGGCCCAGGTCGTGAGGACAGTCATCAATGC CGCGGCCGCGTGGCCCAGGTCGTAAGGACAGTCATCAATGC < 41bp 0.799893939330276 0.584487761809426 0.64029944 0.4409327 prediction 0.430812355041698 Functional Loss - SLC34A3 ENSG00000198569 CDS Human protein_coding chr9:140128706 chr9:140128709 synonymous SNV . 0 24 hm5C_associated_SNPs_85233 1 Uncertain significance not specified RCV000394330.1
3875 chr1 21902372 21902372 1 + G A LUAD 21902369 + 21902349 21902389 41 TGGTCACTGCGGACCATTCCCACGTCTTCACATTTGGTGGA TGGTCACTGCGGACCATTCCCACATCTTCACATTTGGTGGA < 41bp 0.715387838081517 0.468135944583067 0.20870623 0.10068673 prediction 0.430775676163035 Functional Loss - ALPL ENSG00000162551 CDS Human protein_coding chr1:21902369 chr1:21902372 nonsynonymous SNV 0.994 4 24 hm5C_associated_SNPs_85248 1 Likely pathogenic Infantile hypophosphatasia RCV000411905.1
3875 chr7 105207749 105207749 1 + T C rs36058979 105207748 + 105207728 105207768 41 GAGGACAAATTGGCCTAATACTGGAAAATAATGTCTTTCAG GAGGACAAATTGGCCTAATACCGGAAAATAATGTCTTTCAG < 41bp 0.721997230851721 0.506745362325734 0.1433909 0.45191097 prediction 0.430503737051975 Functional Loss - RINT1 ENSG00000135249 CDS Human protein_coding chr7:105207748 chr7:105207749 synonymous SNV . 0 22 hm5C_associated_SNPs_85359 1 Benign not specified RCV000210528.3
3875 chr11 67378584 67378584 1 + C T rs150859374 67378581 + 67378561 67378601 41 GGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTC GGCAGAGAACGCAACTCAGGCACTAAACTATTCAACATCTC < 41bp 0.738962121457166 0.523722722139255 0.36666924 0.18381631 prediction 0.430478798635824 Functional Loss - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378581 chr11:67378584 synonymous SNV . 0 24 hm5C_associated_SNPs_85375 2 Uncertain significance Mitochondrial complex I deficiency RCV000351838.1
3875 chr11 67378584 67378584 1 + C T rs150859374 67378581 + 67378561 67378601 41 GGCAGAGAACGCAACTCAGGCACCAAACTATTCAACATCTC GGCAGAGAACGCAACTCAGGCACTAAACTATTCAACATCTC < 41bp 0.738962121457166 0.523722722139255 0.36666924 0.18381631 prediction 0.430478798635824 Functional Loss - NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378581 chr11:67378584 synonymous SNV . 0 24 hm5C_associated_SNPs_85375 2 Uncertain significance Leigh syndrome RCV000392952.1
3875 chr8 42977681 42977681 1 + C T rs148949414 42977678 + 42977658 42977698 41 TTACCCCTGGTGAACCACAGCTCCGGGATGCTGGTGAAGTG TTACCCCTGGTGAACCACAGCTCTGGGATGCTGGTGAAGTG < 41bp 0.762146459615204 0.547036908492993 0.21081692 0.17719209 prediction 0.430219102244423 Functional Loss - POMK ENSG00000185900 CDS Human protein_coding chr8:42977678 chr8:42977681 synonymous SNV . 0 24 hm5C_associated_SNPs_85480 1 Likely benign not specified RCV000502390.1
3875 chr22 25597388 25597388 1 + G A UCEC 25597385 + 25597365 25597405 41 TGGCGGAACAGCACGGAGCACCCGAACAGGCTGCAGCTGGC TGGCGGAACAGCACGGAGCACCCAAACAGGCTGCAGCTGGC < 41bp 0.715085864849826 0.470366254622324 0.06943187 0.028120816 prediction 0.430171729699651 Functional Loss - CRYBB3 ENSG00000100053 CDS Human protein_coding chr22:25597385 chr22:25597388 nonsynonymous SNV 0.419 0 24 hm5C_associated_SNPs_85509 1 Uncertain significance Congenital nuclear cataract RCV000408402.1
3875 chrX 99925879 99925879 1 + C T rs138091242 99925876 + 99925856 99925896 41 CAGGGTATTGACCGAGACCGCTACATGGAACCTGTCACCCC CAGGGTATTGACCGAGACCGCTATATGGAACCTGTCACCCC < 41bp 0.751388771140221 0.536499560586913 0.31632298 0.27754188 prediction 0.429778421106616 Functional Loss - SRPX2 ENSG00000102359 CDS Human protein_coding chrX:99925876 chrX:99925879 synonymous SNV . 0 24 hm5C_associated_SNPs_85648 2 other not specified RCV000128287.1
3875 chrX 99925879 99925879 1 + C T rs138091242 99925876 + 99925856 99925896 41 CAGGGTATTGACCGAGACCGCTACATGGAACCTGTCACCCC CAGGGTATTGACCGAGACCGCTATATGGAACCTGTCACCCC < 41bp 0.751388771140221 0.536499560586913 0.31632298 0.27754188 prediction 0.429778421106616 Functional Loss - SRPX2 ENSG00000102359 CDS Human protein_coding chrX:99925876 chrX:99925879 synonymous SNV . 0 24 hm5C_associated_SNPs_85648 2 Benign Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked RCV000459427.1
3875 chr17 68174060 68174060 1 + A C rs117409545 68174059 + 68174039 68174079 41 TCTCCTGTGGAGCCCTAGAGCAGGTTACTAAGGAAGGACAC TCTCCTGTGGAGCCCTAGAGCCGGTTACTAAGGAAGGACAC < 41bp 0.714856142136699 0.481576090534579 0.52982634 0.3837948 prediction 0.429712284273397 Functional Loss - KCNJ2 ENSG00000123700 UTR3 Human protein_coding chr17:68174059 chr17:68174060 . . 0 22 hm5C_associated_SNPs_85677 3 Likely benign Andersen Tawil syndrome RCV000294561.1
3875 chr17 68174060 68174060 1 + A C rs117409545 68174059 + 68174039 68174079 41 TCTCCTGTGGAGCCCTAGAGCAGGTTACTAAGGAAGGACAC TCTCCTGTGGAGCCCTAGAGCCGGTTACTAAGGAAGGACAC < 41bp 0.714856142136699 0.481576090534579 0.52982634 0.3837948 prediction 0.429712284273397 Functional Loss - KCNJ2 ENSG00000123700 UTR3 Human protein_coding chr17:68174059 chr17:68174060 . . 0 22 hm5C_associated_SNPs_85677 3 Likely benign short QT syndrome RCV000334686.1
3875 chr17 68174060 68174060 1 + A C rs117409545 68174059 + 68174039 68174079 41 TCTCCTGTGGAGCCCTAGAGCAGGTTACTAAGGAAGGACAC TCTCCTGTGGAGCCCTAGAGCCGGTTACTAAGGAAGGACAC < 41bp 0.714856142136699 0.481576090534579 0.52982634 0.3837948 prediction 0.429712284273397 Functional Loss - KCNJ2 ENSG00000123700 UTR3 Human protein_coding chr17:68174059 chr17:68174060 . . 0 22 hm5C_associated_SNPs_85677 3 Likely benign Familial atrial fibrillation RCV000388968.1
3875 chr10 104837392 104837392 1 + C T rs3740389 104837389 + 104837369 104837409 41 CTGATGGGCTGGACTTGCCCCTCCGGTAGCCTTCCTTGGCC CTGATGGGCTGGACTTGCCCCTCTGGTAGCCTTCCTTGGCC < 41bp 0.718986312080348 0.504151730859296 0.32551134 0.111311436 prediction 0.429669162442104 Functional Loss - CNNM2 ENSG00000148842 UTR3 Human protein_coding chr10:104837389 chr10:104837392 . . 0 24 hm5C_associated_SNPs_85701 1 Likely benign Renal Hypomagnesemia, Dominant RCV000383064.1
3875 chr1 22149840 22149840 1 + G T rs116316900 22149837 + 22149817 22149857 41 GGCAGGGGCGTGTGTTGGCCCCGGCCTGGGCGCGGTGCTGC GGCAGGGGCGTGTGTTGGCCCCGTCCTGGGCGCGGTGCTGC < 41bp 0.714789373169016 0.330591538958246 0.44833508 0.13764572 prediction 0.429578746338032 Functional Loss - HSPG2 ENSG00000142798 CDS Human protein_coding chr1:22149837 chr1:22149840 nonsynonymous SNV 0.737 0 24 hm5C_associated_SNPs_85740 2 Uncertain significance Dyssegmental Dysplasia RCV000299146.1
3875 chr1 22149840 22149840 1 + G T rs116316900 22149837 + 22149817 22149857 41 GGCAGGGGCGTGTGTTGGCCCCGGCCTGGGCGCGGTGCTGC GGCAGGGGCGTGTGTTGGCCCCGTCCTGGGCGCGGTGCTGC < 41bp 0.714789373169016 0.330591538958246 0.44833508 0.13764572 prediction 0.429578746338032 Functional Loss - HSPG2 ENSG00000142798 CDS Human protein_coding chr1:22149837 chr1:22149840 nonsynonymous SNV 0.737 0 24 hm5C_associated_SNPs_85740 2 Uncertain significance Schwartz Jampel syndrome type 1 RCV000407722.1
3875 chr2 202141631 202141631 1 + C T HNSC 202141629 + 202141609 202141649 41 CAATCACAATTTTGCAAAAGCACGGGAGAAAGTGCCCAAAC CAATCACAATTTTGCAAAAGCATGGGAGAAAGTGCCCAAAC < 41bp 0.780150128997657 0.565407175903584 0.18316346 0.2639839 prediction 0.429485906188146 Functional Loss - CASP8 ENSG00000064012 CDS Human protein_coding chr2:202141629 chr2:202141631 nonsynonymous SNV 0.009 3 23 hm5C_associated_SNPs_85772 1 Pathogenic Caspase-8 deficiency RCV000008201.4
3875 chr1 247587379 247587379 1 + G A GBM 247587376 + 247587356 247587396 41 AGATGGAGTTGCTGTTTGACCCCGATGATGAGCATTCTGAG AGATGGAGTTGCTGTTTGACCCCAATGATGAGCATTCTGAG < 41bp 0.818059029498597 0.603336850915868 0.11395946 0.021068335 prediction 0.429444357165457 Functional Loss - NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587376 chr1:247587379 nonsynonymous SNV 0.004 2 24 hm5C_associated_SNPs_85791 1 Uncertain significance not specified RCV000220665.1
3875 chr17 27065189 27065189 1 + G A LGG 27065186 + 27065166 27065206 41 GCCACAGCCCCAGTTCATCTCGCGTTTCCTGGAGGGCCAGT GCCACAGCCCCAGTTCATCTCGCATTTCCTGGAGGGCCAGT < 41bp 0.809674194088065 0.595082057267865 0.7599019 0.29066873 prediction 0.4291842736404 Functional Loss - NEK8 ENSG00000160602 CDS Human protein_coding chr17:27065186 chr17:27065189 nonsynonymous SNV 0.984 4 24 hm5C_associated_SNPs_85897 1 Uncertain significance Nephronophthisis RCV000312188.1
3875 chr17 45369789 45369789 1 + G A rs4634 45369786 + 45369766 45369806 41 CAGCAGGACGAATGCAGCCCCCGGGAGGGTCAGCCCGTCTG CAGCAGGACGAATGCAGCCCCCGAGAGGGTCAGCCCGTCTG < 41bp 0.714477921666197 0.459381499500023 0.40496275 0.19589376 prediction 0.428955843332393 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45369786 chr17:45369789 synonymous SNV . 0 24 hm5C_associated_SNPs_85995 2 Benign not specified RCV000241947.1
3875 chr17 45369789 45369789 1 + G A rs4634 45369786 + 45369766 45369806 41 CAGCAGGACGAATGCAGCCCCCGGGAGGGTCAGCCCGTCTG CAGCAGGACGAATGCAGCCCCCGAGAGGGTCAGCCCGTCTG < 41bp 0.714477921666197 0.459381499500023 0.40496275 0.19589376 prediction 0.428955843332393 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45369786 chr17:45369789 synonymous SNV . 0 24 hm5C_associated_SNPs_85995 2 Benign Glanzmann thrombasthenia RCV000394843.1
3875 chr17 78092457 78092457 1 + G A LUAD 78092454 + 78092434 78092474 41 TCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGGT TCTCTCTGCTCGGCCCAGAACACAATCGTGAATGAGCTGGT < 41bp 0.795390113740049 0.580926827094361 0.3223002 0.2000077 prediction 0.428926573291376 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78092454 chr17:78092457 synonymous SNV . 0 24 hm5C_associated_SNPs_86007 1 Uncertain significance not specified RCV000279238.1
3875 chr17 78059821 78059821 1 + T C rs117203086 78059820 + 78059800 78059840 41 AGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGG AGGGGGAAGAAGTGGGGCCCCCGGAGCTTGAAATCAAAAGG < 41bp 0.802747797309144 0.588365007096761 0.5995581 0.4587543 prediction 0.428765580424767 Functional Loss - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78059820 chr17:78059821 nonsynonymous SNV 0.938 1 22 hm5C_associated_SNPs_86084 2 Benign not specified RCV000155468.2
3875 chr17 78059821 78059821 1 + T C rs117203086 78059820 + 78059800 78059840 41 AGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGG AGGGGGAAGAAGTGGGGCCCCCGGAGCTTGAAATCAAAAGG < 41bp 0.802747797309144 0.588365007096761 0.5995581 0.4587543 prediction 0.428765580424767 Functional Loss - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78059820 chr17:78059821 nonsynonymous SNV 0.938 1 22 hm5C_associated_SNPs_86084 2 other Primary ciliary dyskinesia RCV000232998.3
3875 chr1 47882221 47882221 1 + G A rs201158701 47882218 + 47882198 47882238 41 AAGCCGCCCTACTCGTACATCGCGCTCATCGCCATGGCTCT AAGCCGCCCTACTCGTACATCGCACTCATCGCCATGGCTCT < 41bp 0.786163937962774 0.571831681735913 0.07417944 0.0358299 prediction 0.428664512453721 Functional Loss - FOXE3 ENSG00000186790 CDS Human protein_coding chr1:47882218 chr1:47882221 synonymous SNV . 0 24 hm5C_associated_SNPs_86123 1 Likely benign not specified RCV000429091.1
3875 chr22 25598739 25598739 1 + C T UCEC 25598736 + 25598716 25598756 41 AGCCTGCTGGAGAAGGTGGGCTCCATCCAAGTGGAGTCCGG AGCCTGCTGGAGAAGGTGGGCTCTATCCAAGTGGAGTCCGG < 41bp 0.743319537895258 0.529045077261068 0.9063694 0.8776649 prediction 0.42854892126838 Functional Loss - CRYBB3 ENSG00000100053 CDS Human protein_coding chr22:25598736 chr22:25598739 synonymous SNV . 0 24 hm5C_associated_SNPs_86169 1 Uncertain significance Congenital nuclear cataract RCV000269837.1
3875 chr16 55523654 55523654 1 + C T rs16955236 55523651 + 55523631 55523671 41 AAATATGAGAGCTGCACCAGCGCCGGCCGCAGTGACGGAAA AAATATGAGAGCTGCACCAGCGCTGGCCGCAGTGACGGAAA < 41bp 0.714223912206449 0.484963282809884 0.32210714 0.14125064 prediction 0.428447824412898 Functional Loss - MMP2 ENSG00000087245 CDS Human protein_coding chr16:55523651 chr16:55523654 synonymous SNV . 0 24 hm5C_associated_SNPs_86214 1 Likely benign Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000334048.1
3875 chr9 137591908 137591908 1 + C T PAAD 137591906 + 137591886 137591926 41 GTCTTCCTCTACGAGGACCACACGGGGAAGCCTGGCCCGGA GTCTTCCTCTACGAGGACCACATGGGGAAGCCTGGCCCGGA < 41bp 0.714157266484303 0.464256527818953 0.751078 0.78511715 prediction 0.428314532968605 Functional Loss - COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137591906 chr9:137591908 nonsynonymous SNV 0.907 1 23 hm5C_associated_SNPs_86267 1 Likely benign not specified RCV000196676.3
3875 chr11 6415566 6415566 1 + G A rs113467489 6415563 + 6415543 6415583 41 CTGGCAGCTTCTCTACAGGGCTCGAGAAACCTATGGGCTGC CTGGCAGCTTCTCTACAGGGCTCAAGAAACCTATGGGCTGC < 41bp 0.784523360017373 0.570466125132088 0.14128804 0.054694593 prediction 0.428114469770569 Functional Loss - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6415563 chr11:6415566 nonsynonymous SNV 0.996 3 24 hm5C_associated_SNPs_86373 1 Uncertain significance Sphingomyelin/cholesterol lipidosis RCV000270672.1
3875 chr19 1912900 1912900 1 + A C rs146212621 1912896 + 1912876 1912916 41 GCGCAGGCGCCGTGCGTAAACTGGACGCAGACGAGGACGGC GCGCAGGCGCCGTGCGTAAACTGGCCGCAGACGAGGACGGC < 41bp 0.927207459262241 0.713164667232446 0.57006097 0.64051276 prediction 0.42808558405959 Functional Loss - ADAT3 ENSG00000213638 CDS Human protein_coding chr19:1912896 chr19:1912900 nonsynonymous SNV 0.306 0 25 hm5C_associated_SNPs_86381 1 Likely benign not specified RCV000499886.1
3875 chr1 55518054 55518054 1 + C T UCEC 55518052 + 55518032 55518072 41 TCACCGACTTCGAGAATGTGCCCGAGGAGGACGGGACCCGC TCACCGACTTCGAGAATGTGCCTGAGGAGGACGGGACCCGC < 41bp 0.713992029809933 0.429125251208421 0.13740626 0.10831985 prediction 0.427984059619865 Functional Loss - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518052 chr1:55518054 synonymous SNV . 0 23 hm5C_associated_SNPs_86416 2 Uncertain significance Familial hypobetalipoproteinemia RCV000311424.1
3875 chr1 55518054 55518054 1 + C T UCEC 55518052 + 55518032 55518072 41 TCACCGACTTCGAGAATGTGCCCGAGGAGGACGGGACCCGC TCACCGACTTCGAGAATGTGCCTGAGGAGGACGGGACCCGC < 41bp 0.713992029809933 0.429125251208421 0.13740626 0.10831985 prediction 0.427984059619865 Functional Loss - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55518052 chr1:55518054 synonymous SNV . 0 23 hm5C_associated_SNPs_86416 2 Uncertain significance Familial hypercholesterolemia RCV000391171.1
3875 chr19 11546475 11546475 1 + C T rs45450094 11546473 + 11546453 11546493 41 TTTCTTTCTGCAGCAGGAACCGCGGCTGCTGGACAAGAGGG TTTCTTTCTGCAGCAGGAACCGTGGCTGCTGGACAAGAGGG < 41bp 0.756380432720631 0.542417892863346 0.7037121 0.38082346 prediction 0.427925079714569 Functional Loss - PRKCSH ENSG00000130175 UTR5 Human protein_coding chr19:11546473 chr19:11546475 . . 0 23 hm5C_associated_SNPs_86443 1 Likely benign Polycystic liver disease RCV000266677.1
3875 chrX 79277840 79277840 1 + C T rs138387312 79277838 + 79277818 79277858 41 GGAGACCCAGCAAAAGAAAACTCCAAGACCCAATACAGGCG GGAGACCCAGCAAAAGAAAACTTCAAGACCCAATACAGGCG < 41bp 0.863954781814356 0.650085192923497 0.93371 0.2287294 prediction 0.427739177781717 Functional Loss - TBX22 ENSG00000122145 CDS Human protein_coding chrX:79277838 chrX:79277840 synonymous SNV . 0 23 hm5C_associated_SNPs_86512 1 Likely benign Cleft palate X-linked RCV000400529.1
3875 chr19 54697079 54697079 1 + C T rs7595 54697077 + 54697057 54697097 41 ATATCGCTCAGTGCTGGGCCCCCGAGGACACCATCCCACTC ATATCGCTCAGTGCTGGGCCCCTGAGGACACCATCCCACTC < 41bp 0.840684403430564 0.626838905097303 0.57683897 0.36400408 prediction 0.427690996666523 Functional Loss - TSEN34 ENSG00000170892 CDS Human protein_coding chr19:54697077 chr19:54697079 synonymous SNV . 0 23 hm5C_associated_SNPs_86547 2 Benign not specified RCV000147766.1
3875 chr19 54697079 54697079 1 + C T rs7595 54697077 + 54697057 54697097 41 ATATCGCTCAGTGCTGGGCCCCCGAGGACACCATCCCACTC ATATCGCTCAGTGCTGGGCCCCTGAGGACACCATCCCACTC < 41bp 0.840684403430564 0.626838905097303 0.57683897 0.36400408 prediction 0.427690996666523 Functional Loss - TSEN34 ENSG00000170892 CDS Human protein_coding chr19:54697077 chr19:54697079 synonymous SNV . 0 23 hm5C_associated_SNPs_86547 2 Benign Pontoneocerebellar hypoplasia RCV000284876.1
3875 chr2 190648859 190648859 1 + G A rs5742927 190648856 + 190648836 190648876 41 GGGGCGAGCCTCTGAGGCCACTTGGCTCTTACGGCCACGCA GGGGCGAGCCTCTGAGGCCACTTAGCTCTTACGGCCACGCA < 41bp 0.745018596485456 0.531209526113621 0.39813465 0.25200573 prediction 0.427618140743669 Functional Loss - PMS1 ENSG00000128699 intronic Human protein_coding chr2:190648856 chr2:190648859 . . 0 24 hm5C_associated_SNPs_86569 1 Likely benign Lynch syndrome RCV000379132.1
3875 chr10 85976114 85976114 1 + C T rs181800100 85976112 + 85976092 85976132 41 AGTATTAAGCAAGAGGTGGACTCGAGCAATCCAGGAGCCCA AGTATTAAGCAAGAGGTGGACTTGAGCAATCCAGGAGCCCA < 41bp 0.739836525495772 0.526167434871956 0.6443566 0.4787561 prediction 0.427338181247632 Functional Loss - CDHR1 ENSG00000148600 UTR3 Human protein_coding chr10:85976112 chr10:85976114 . . 0 23 hm5C_associated_SNPs_86689 1 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000353119.1
3875 chr16 2546300 2546300 1 + C T COAD 2546297 + 2546277 2546317 41 ACTGGGCCCAAAGCCACGCCCTGCGGGGAAAGGTGTACCAG ACTGGGCCCAAAGCCACGCCCTGTGGGGAAAGGTGTACCAG < 41bp 0.760300911812308 0.546664479601815 0.5396843 0.4976181 prediction 0.427272864420985 Functional Loss - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546297 chr16:2546300 nonsynonymous SNV 0.365 4 24 hm5C_associated_SNPs_86717 1 Uncertain significance Myoclonic epilepsy, familial infantile RCV000285199.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 other not specified RCV000041327.8
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 not provided not provided RCV000057348.2
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Mandibuloacral dysplasia with type A lipodystrophy RCV000225004.2
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Cardiovascular phenotype RCV000252567.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Familial partial lipodystrophy RCV000280696.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Emery-Dreifuss muscular dystrophy RCV000307278.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Mandibuloacral dysplasia RCV000310337.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Congenital muscular dystrophy, LMNA-related RCV000313972.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Hutchinson-Gilford syndrome RCV000335127.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Lethal tight skin contracture syndrome RCV000339153.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Limb-Girdle Muscular Dystrophy, Recessive RCV000350197.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Dilated Cardiomyopathy, Dominant RCV000375103.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Charcot-Marie-Tooth, Type 2 RCV000393593.1
3875 chr1 156107534 156107534 1 + C T rs4641 156107532 + 156107512 156107552 41 ATGACCTGCTCCATCACCACCACGTGAGTGGTAGCCGCCGC ATGACCTGCTCCATCACCACCATGTGAGTGGTAGCCGCCGC < 41bp 0.713620031911004 0.460200152288231 0.75868034 0.6764117 prediction 0.427240063822008 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156107532 chr1:156107534 synonymous SNV . 0 23 hm5C_associated_SNPs_86728 14 Benign Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules RCV000398387.1
3875 chr19 56544053 56544053 1 + C T LUAD 56544050 + 56544030 56544070 41 TTGGCACCCACCCACACCTGCGGCAGCTGGACCTGGGCAGC TTGGCACCCACCCACACCTGCGGTAGCTGGACCTGGGCAGC < 41bp 0.734084858499369 0.520583785782943 0.8693026 0.8329721 prediction 0.427002145432851 Functional Loss - NLRP5 ENSG00000171487 CDS Human protein_coding chr19:56544050 chr19:56544053 stopgain 0.051 0 24 hm5C_associated_SNPs_86819 1 Uncertain significance Oculoectodermal syndrome RCV000208591.2
3875 chr14 29237297 29237297 1 + G A STAD 29237294 + 29237274 29237314 41 CGTGTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCT CGTGTTCATCGGCGGCACCACGGACAAGCTGCGGCGCCGCT < 41bp 0.815693662630508 0.602197275280871 0.8918978 0.43735042 prediction 0.426992774699273 Functional Loss - FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237294 chr14:29237297 nonsynonymous SNV 0.998 4 24 hm5C_associated_SNPs_86824 1 Likely pathogenic not provided RCV000187466.1
3875 chr7 128490876 128490876 1 + G A rs376078394 128490873 + 128490853 128490893 41 GCAGGAGAGGTGCGGATGCCCTCGGGGAAGACGGCACGGCC GCAGGAGAGGTGCGGATGCCCTCAGGGAAGACGGCACGGCC < 41bp 0.788563245542199 0.575186313338567 0.15870714 0.038610518 prediction 0.426753864407263 Functional Loss - FLNC ENSG00000128591 CDS Human protein_coding chr7:128490873 chr7:128490876 synonymous SNV . 0 24 hm5C_associated_SNPs_86929 1 Uncertain significance not specified RCV000339649.1
3875 chr7 128034581 128034581 1 + G A SARC 128034578 + 128034558 128034598 41 ATGCCTGCTATGAGGTAGGGCACGAACTTCTGAATGGATCC ATGCCTGCTATGAGGTAGGGCACAAACTTCTGAATGGATCC < 41bp 0.713352167760245 0.483468329689176 0.14506242 0.09899697 prediction 0.426704335520489 Functional Loss - IMPDH1 ENSG00000106348 CDS Human protein_coding chr7:128034578 chr7:128034581 synonymous SNV . 0 24 hm5C_associated_SNPs_86950 1 Uncertain significance not specified RCV000296243.1
3875 chr6 36262089 36262089 1 + C T rs187453727 36262087 + 36262067 36262107 41 GGGACTGCCCGGCCATCTTCCACGACTTCCGCATGTTCAAC GGGACTGCCCGGCCATCTTCCATGACTTCCGCATGTTCAAC < 41bp 0.86261405083859 0.64927851646025 0.111694545 0.19004413 prediction 0.426671068756681 Functional Loss - PNPLA1 ENSG00000180316 CDS Human protein_coding chr6:36262087 chr6:36262089 synonymous SNV . 0 23 hm5C_associated_SNPs_86964 1 Uncertain significance Congenital ichthyosiform erythroderma RCV000345609.1
3875 chr11 64359286 64359286 1 + C T rs3825016 64359284 + 64359264 64359304 41 CGGGCCCCAACCAGAGGCCCCACCAGTGCCGCCGCTTCCGC CGGGCCCCAACCAGAGGCCCCATCAGTGCCGCCGCTTCCGC < 41bp 0.713319444916458 0.460346188294377 0.19596916 0.20103434 prediction 0.426638889832915 Functional Loss - SLC22A12 ENSG00000197891 CDS Human protein_coding chr11:64359284 chr11:64359286 synonymous SNV . 0 23 hm5C_associated_SNPs_86985 1 Benign Familial renal hypouricemia RCV000372062.1
3875 chr4 57340271 57340271 1 + G A STAD 57340268 + 57340248 57340288 41 GCTTAGCAGTGTATAGAGATCTCGTCCGAAACTCCCAAGAT GCTTAGCAGTGTATAGAGATCTCATCCGAAACTCCCAAGAT < 41bp 0.713250381620099 0.484451014538465 0.04905781 0.039025605 prediction 0.426500763240197 Functional Loss - SRP72 ENSG00000174780 CDS Human protein_coding chr4:57340268 chr4:57340271 nonsynonymous SNV 0.982 1 24 hm5C_associated_SNPs_87030 1 Likely benign Bone marrow failure syndrome 1 RCV000281124.1
3875 chrX 149764968 149764968 1 + C T UCEC 149764966 + 149764946 149764986 41 TCTGTTTTGTTTCTAGACGTCTCGAGATGGAGTCAATCGAG TCTGTTTTGTTTCTAGACGTCTTGAGATGGAGTCAATCGAG < 41bp 0.874167807828318 0.660970067871101 0.8434598 0.301628 prediction 0.426395479914434 Functional Loss - MTM1 ENSG00000171100 CDS Human protein_coding chrX:149764966 chrX:149764968 stopgain 0.051 0 23 hm5C_associated_SNPs_87071 2 Pathogenic not provided RCV000078437.4
3875 chrX 149764968 149764968 1 + C T UCEC 149764966 + 149764946 149764986 41 TCTGTTTTGTTTCTAGACGTCTCGAGATGGAGTCAATCGAG TCTGTTTTGTTTCTAGACGTCTTGAGATGGAGTCAATCGAG < 41bp 0.874167807828318 0.660970067871101 0.8434598 0.301628 prediction 0.426395479914434 Functional Loss - MTM1 ENSG00000171100 CDS Human protein_coding chrX:149764966 chrX:149764968 stopgain 0.051 0 23 hm5C_associated_SNPs_87071 2 Pathogenic Severe X-linked myotubular myopathy RCV000264401.1
3875 chr3 70014091 70014091 1 + G A UCEC 70014088 + 70014068 70014108 41 TGGTGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAAC TGGTGAATCGGATCATCAAGCAAAAACCCGTTCTTGAGAAC < 41bp 0.750071945835654 0.536955071057905 0.88491154 0.46398774 prediction 0.426233749555498 Functional Loss - MITF ENSG00000187098 CDS Human protein_coding chr3:70014088 chr3:70014091 nonsynonymous SNV 0.946 3 24 hm5C_associated_SNPs_87144 4 other Cutaneous malignant melanoma 8 RCV000022661.6
3875 chr3 70014091 70014091 1 + G A UCEC 70014088 + 70014068 70014108 41 TGGTGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAAC TGGTGAATCGGATCATCAAGCAAAAACCCGTTCTTGAGAAC < 41bp 0.750071945835654 0.536955071057905 0.88491154 0.46398774 prediction 0.426233749555498 Functional Loss - MITF ENSG00000187098 CDS Human protein_coding chr3:70014088 chr3:70014091 nonsynonymous SNV 0.946 3 24 hm5C_associated_SNPs_87144 4 Pathogenic Hereditary cancer-predisposing syndrome RCV000129682.1
3875 chr3 70014091 70014091 1 + G A UCEC 70014088 + 70014068 70014108 41 TGGTGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAAC TGGTGAATCGGATCATCAAGCAAAAACCCGTTCTTGAGAAC < 41bp 0.750071945835654 0.536955071057905 0.88491154 0.46398774 prediction 0.426233749555498 Functional Loss - MITF ENSG00000187098 CDS Human protein_coding chr3:70014088 chr3:70014091 nonsynonymous SNV 0.946 3 24 hm5C_associated_SNPs_87144 4 other not specified RCV000222278.2
3875 chr3 70014091 70014091 1 + G A UCEC 70014088 + 70014068 70014108 41 TGGTGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAAC TGGTGAATCGGATCATCAAGCAAAAACCCGTTCTTGAGAAC < 41bp 0.750071945835654 0.536955071057905 0.88491154 0.46398774 prediction 0.426233749555498 Functional Loss - MITF ENSG00000187098 CDS Human protein_coding chr3:70014088 chr3:70014091 nonsynonymous SNV 0.946 3 24 hm5C_associated_SNPs_87144 4 Pathogenic not provided RCV000484916.1
3875 chr16 67650719 67650719 1 + C T UCEC 67650716 + 67650696 67650736 41 GTGGAGAATTGGTTCGGCATCGTCGTTACAAACACACCCAC GTGGAGAATTGGTTCGGCATCGTTGTTACAAACACACCCAC < 41bp 0.719996451750908 0.506883682859969 0.16695648 0.04090658 prediction 0.426225537781878 Functional Loss - CTCF ENSG00000102974 CDS Human protein_coding chr16:67650716 chr16:67650719 nonsynonymous SNV 1.000 4 24 hm5C_associated_SNPs_87147 1 Likely pathogenic not provided RCV000494182.1
3875 chr17 45331285 45331285 1 + C T rs548495900 45331283 + 45331263 45331303 41 GACTGTGCTGGCGCTGGGGGCGCTGGCGGGCGTTGGCGTAG GACTGTGCTGGCGCTGGGGGCGTTGGCGGGCGTTGGCGTAG < 41bp 0.753513578715884 0.540408377156073 0.8980254 0.9053175 prediction 0.426210403119622 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45331283 chr17:45331285 synonymous SNV . 0 23 hm5C_associated_SNPs_87150 1 Likely benign Glanzmann thrombasthenia RCV000329008.1
3875 chr21 47552005 47552005 1 + C T rs144484744 47552003 + 47551983 47552023 41 GGCGCGGCGGCTGACGCTGGCCCGGAGGGACGACGACCCTC GGCGCGGCGGCTGACGCTGGCCTGGAGGGACGACGACCCTC < 41bp 0.768279111897912 0.555196594176553 0.4111124 0.36303228 prediction 0.426165035442717 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552003 chr21:47552005 nonsynonymous SNV 0.003 4 23 hm5C_associated_SNPs_87173 1 Likely benign not specified RCV000362392.2
3875 chr3 37035080 37035080 1 + A C rs369737664 37035079 + 37035059 37035099 41 TATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGG TATTCGGCGGCTGGACGAGACCGTGGTGAACCGCATCGCGG < 41bp 0.724802603787284 0.511787361699823 0.81003964 0.6742105 prediction 0.426030484174922 Functional Loss - MLH1 ENSG00000076242 CDS Human protein_coding chr3:37035079 chr3:37035080 synonymous SNV . 0 22 hm5C_associated_SNPs_87222 3 Benign Lynch syndrome RCV000122977.5
3875 chr3 37035080 37035080 1 + A C rs369737664 37035079 + 37035059 37035099 41 TATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGG TATTCGGCGGCTGGACGAGACCGTGGTGAACCGCATCGCGG < 41bp 0.724802603787284 0.511787361699823 0.81003964 0.6742105 prediction 0.426030484174922 Functional Loss - MLH1 ENSG00000076242 CDS Human protein_coding chr3:37035079 chr3:37035080 synonymous SNV . 0 22 hm5C_associated_SNPs_87222 3 Likely benign Hereditary cancer-predisposing syndrome RCV000126779.5
3875 chr3 37035080 37035080 1 + A C rs369737664 37035079 + 37035059 37035099 41 TATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCGG TATTCGGCGGCTGGACGAGACCGTGGTGAACCGCATCGCGG < 41bp 0.724802603787284 0.511787361699823 0.81003964 0.6742105 prediction 0.426030484174922 Functional Loss - MLH1 ENSG00000076242 CDS Human protein_coding chr3:37035079 chr3:37035080 synonymous SNV . 0 22 hm5C_associated_SNPs_87222 3 Benign not specified RCV000212511.1
3875 chr11 2869062 2869062 1 + C T rs139893266 2869060 + 2869040 2869080 41 TTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGC TTCACCAGCTGCTCTCCTTGCATGGTGGCAGCACCCCCGGC < 41bp 0.792649428523165 0.579684900927158 0.7646136 0.8405131 prediction 0.425929055192015 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2869060 chr11:2869062 synonymous SNV . 0 23 hm5C_associated_SNPs_87261 3 other not specified RCV000126441.3
3875 chr11 2869062 2869062 1 + C T rs139893266 2869060 + 2869040 2869080 41 TTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGC TTCACCAGCTGCTCTCCTTGCATGGTGGCAGCACCCCCGGC < 41bp 0.792649428523165 0.579684900927158 0.7646136 0.8405131 prediction 0.425929055192015 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2869060 chr11:2869062 synonymous SNV . 0 23 hm5C_associated_SNPs_87261 3 Benign Long QT syndrome RCV000200765.3
3875 chr11 2869062 2869062 1 + C T rs139893266 2869060 + 2869040 2869080 41 TTCACCAGCTGCTCTCCTTGCACGGTGGCAGCACCCCCGGC TTCACCAGCTGCTCTCCTTGCATGGTGGCAGCACCCCCGGC < 41bp 0.792649428523165 0.579684900927158 0.7646136 0.8405131 prediction 0.425929055192015 Functional Loss - KCNQ1 ENSG00000053918 CDS Human protein_coding chr11:2869060 chr11:2869062 synonymous SNV . 0 23 hm5C_associated_SNPs_87261 3 Likely benign Cardiovascular phenotype RCV000245982.1
3875 chr11 128786323 128786323 1 + G A rs192889782 128786320 + 128786300 128786340 41 CCAGGCATGACCTGCCAAGCCCGGAGCTCCTACATGGATAC CCAGGCATGACCTGCCAAGCCCGAAGCTCCTACATGGATAC < 41bp 0.798238398258887 0.585439550005245 0.46480078 0.1398946 prediction 0.425597696507284 Functional Loss - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128786320 chr11:128786323 synonymous SNV . 0 24 hm5C_associated_SNPs_87381 4 Benign Long QT syndrome RCV000198899.2
3875 chr11 128786323 128786323 1 + G A rs192889782 128786320 + 128786300 128786340 41 CCAGGCATGACCTGCCAAGCCCGGAGCTCCTACATGGATAC CCAGGCATGACCTGCCAAGCCCGAAGCTCCTACATGGATAC < 41bp 0.798238398258887 0.585439550005245 0.46480078 0.1398946 prediction 0.425597696507284 Functional Loss - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128786320 chr11:128786323 synonymous SNV . 0 24 hm5C_associated_SNPs_87381 4 Likely benign Romano-Ward syndrome RCV000297407.1
3875 chr11 128786323 128786323 1 + G A rs192889782 128786320 + 128786300 128786340 41 CCAGGCATGACCTGCCAAGCCCGGAGCTCCTACATGGATAC CCAGGCATGACCTGCCAAGCCCGAAGCTCCTACATGGATAC < 41bp 0.798238398258887 0.585439550005245 0.46480078 0.1398946 prediction 0.425597696507284 Functional Loss - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128786320 chr11:128786323 synonymous SNV . 0 24 hm5C_associated_SNPs_87381 4 Likely benign Familial hyperaldosteronism RCV000406934.1
3875 chr11 128786323 128786323 1 + G A rs192889782 128786320 + 128786300 128786340 41 CCAGGCATGACCTGCCAAGCCCGGAGCTCCTACATGGATAC CCAGGCATGACCTGCCAAGCCCGAAGCTCCTACATGGATAC < 41bp 0.798238398258887 0.585439550005245 0.46480078 0.1398946 prediction 0.425597696507284 Functional Loss - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128786320 chr11:128786323 synonymous SNV . 0 24 hm5C_associated_SNPs_87381 4 Benign not specified RCV000429691.1
3875 chrX 136649762 136649762 1 + G A rs10126585 136649759 + 136649739 136649779 41 TGCTACTGGGAGGAGTGCCCCCGGGAGGGCAAGTCTTTCAA TGCTACTGGGAGGAGTGCCCCCGAGAGGGCAAGTCTTTCAA < 41bp 0.712710876768879 0.465574361583508 0.65605026 0.16851264 prediction 0.425421753537759 Functional Loss - ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649759 chrX:136649762 synonymous SNV . 0 24 hm5C_associated_SNPs_87476 2 Benign Heterotaxy, visceral, X-linked RCV000234394.1
3875 chrX 136649762 136649762 1 + G A rs10126585 136649759 + 136649739 136649779 41 TGCTACTGGGAGGAGTGCCCCCGGGAGGGCAAGTCTTTCAA TGCTACTGGGAGGAGTGCCCCCGAGAGGGCAAGTCTTTCAA < 41bp 0.712710876768879 0.465574361583508 0.65605026 0.16851264 prediction 0.425421753537759 Functional Loss - ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649759 chrX:136649762 synonymous SNV . 0 24 hm5C_associated_SNPs_87476 2 Benign not specified RCV000253727.1
3875 chr5 235364 235364 1 + C T rs35277230 235361 + 235341 235381 41 ATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCAC ATTTCAGAGACAGCCATGATCTTTGCTGGCGTGGACGTCAC < 41bp 0.764596842382393 0.551886088375552 0.3709147 0.28820065 prediction 0.425421508013683 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235361 chr5:235364 synonymous SNV . 0 24 hm5C_associated_SNPs_87477 7 other not specified RCV000118312.4
3875 chr5 235364 235364 1 + C T rs35277230 235361 + 235341 235381 41 ATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCAC ATTTCAGAGACAGCCATGATCTTTGCTGGCGTGGACGTCAC < 41bp 0.764596842382393 0.551886088375552 0.3709147 0.28820065 prediction 0.425421508013683 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235361 chr5:235364 synonymous SNV . 0 24 hm5C_associated_SNPs_87477 7 Benign Hereditary cancer-predisposing syndrome RCV000163257.1
3875 chr5 235364 235364 1 + C T rs35277230 235361 + 235341 235381 41 ATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCAC ATTTCAGAGACAGCCATGATCTTTGCTGGCGTGGACGTCAC < 41bp 0.764596842382393 0.551886088375552 0.3709147 0.28820065 prediction 0.425421508013683 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235361 chr5:235364 synonymous SNV . 0 24 hm5C_associated_SNPs_87477 7 Likely benign Pheochromocytoma RCV000285173.1
3875 chr5 235364 235364 1 + C T rs35277230 235361 + 235341 235381 41 ATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCAC ATTTCAGAGACAGCCATGATCTTTGCTGGCGTGGACGTCAC < 41bp 0.764596842382393 0.551886088375552 0.3709147 0.28820065 prediction 0.425421508013683 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235361 chr5:235364 synonymous SNV . 0 24 hm5C_associated_SNPs_87477 7 Likely benign Mitochondrial complex II deficiency RCV000321449.1
3875 chr5 235364 235364 1 + C T rs35277230 235361 + 235341 235381 41 ATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCAC ATTTCAGAGACAGCCATGATCTTTGCTGGCGTGGACGTCAC < 41bp 0.764596842382393 0.551886088375552 0.3709147 0.28820065 prediction 0.425421508013683 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235361 chr5:235364 synonymous SNV . 0 24 hm5C_associated_SNPs_87477 7 Likely benign Leigh syndrome RCV000379943.1
3875 chr5 235364 235364 1 + C T rs35277230 235361 + 235341 235381 41 ATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCAC ATTTCAGAGACAGCCATGATCTTTGCTGGCGTGGACGTCAC < 41bp 0.764596842382393 0.551886088375552 0.3709147 0.28820065 prediction 0.425421508013683 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235361 chr5:235364 synonymous SNV . 0 24 hm5C_associated_SNPs_87477 7 Benign Mitochondrial complex II deficiency RCV000470511.1
3875 chr5 235364 235364 1 + C T rs35277230 235361 + 235341 235381 41 ATTTCAGAGACAGCCATGATCTTCGCTGGCGTGGACGTCAC ATTTCAGAGACAGCCATGATCTTTGCTGGCGTGGACGTCAC < 41bp 0.764596842382393 0.551886088375552 0.3709147 0.28820065 prediction 0.425421508013683 Functional Loss - SDHA ENSG00000073578 CDS Human protein_coding chr5:235361 chr5:235364 synonymous SNV . 0 24 hm5C_associated_SNPs_87477 7 Benign Paragangliomas 5 RCV000470511.1
3875 chr7 139715531 139715531 1 + G A rs199422117 139715528 + 139715508 139715548 41 TGGTGTTTCCCTCAGATTCACACGGGAGGCAGCTCAGGACT TGGTGTTTCCCTCAGATTCACACAGGAGGCAGCTCAGGACT < 41bp 0.81711883605073 0.604484822299929 0.70359194 0.3157196 prediction 0.425268027501601 Functional Loss - TBXAS1 ENSG00000059377 CDS Human protein_coding chr7:139715528 chr7:139715531 nonsynonymous SNV 0.725 4 24 hm5C_associated_SNPs_87535 1 Pathogenic Ghosal hematodiaphyseal syndrome RCV000012664.24
3875 chr8 6500855 6500855 1 + G A rs182479249 6500852 + 6500832 6500872 41 CTGGAGTGCAATGGCACAATCTCGGCTCACTGCAACCTCCA CTGGAGTGCAATGGCACAATCTCAGCTCACTGCAACCTCCA < 41bp 0.712631570859701 0.477857228893464 0.56621283 0.2624872 prediction 0.425263141719402 Functional Loss - MCPH1-AS1 ENSG00000249898 ncRNA_intronic Human antisense chr8:6500852 chr8:6500855 . . 0 24 hm5C_associated_SNPs_87539 1 Uncertain significance Primary Microcephaly, Recessive RCV000295880.1
3875 chr16 56913052 56913052 1 + C T CESC 56913049 + 56913029 56913069 41 GTGACCCCTGGCTGGGGTGCCTGCGAGGGGCTGGCCTGCAG GTGACCCCTGGCTGGGGTGCCTGTGAGGGGCTGGCCTGCAG < 41bp 0.774324768789063 0.561703252000354 0.52950346 0.3477431 prediction 0.425243033577419 Functional Loss - SLC12A3 ENSG00000070915 CDS Human protein_coding chr16:56913049 chr16:56913052 synonymous SNV . 0 24 hm5C_associated_SNPs_87552 1 Uncertain significance Familial hypokalemia-hypomagnesemia RCV000327911.1
3875 chr14 29237718 29237718 1 + G A rs34654108 29237715 + 29237695 29237735 41 CCCTGCTCCGTCAACCTGCTCGCGGGCCAGACCAGTTACTT CCCTGCTCCGTCAACCTGCTCGCAGGCCAGACCAGTTACTT < 41bp 0.809749732708568 0.597357660977621 0.24866453 0.06846845 prediction 0.424784143461894 Functional Loss - FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237715 chr14:29237718 synonymous SNV . 0 24 hm5C_associated_SNPs_87732 1 Benign not specified RCV000081277.6
3875 chr18 11689823 11689823 1 + G A rs181443061 11689820 + 11689800 11689840 41 CAGCTGAGTGCCGAGGAGCGCGAGGCGGCCAAGGAGCGCGA CAGCTGAGTGCCGAGGAGCGCGAAGCGGCCAAGGAGCGCGA < 41bp 0.811314054531316 0.598956662038109 0.84217334 0.27362764 prediction 0.424714784986413 Functional Loss - GNAL ENSG00000141404 CDS Human protein_coding chr18:11689820 chr18:11689823 synonymous SNV . 0 24 hm5C_associated_SNPs_87766 1 Benign Dystonia RCV000459043.1
3875 chr4 56230356 56230356 1 + C T COAD 56230359 - 56230339 56230379 41 ACAAGTCCAAAACAGTACTGCACGACGTGAATCATGACATT ACAAGTCCAAAACAGTACTGCACAACGTGAATCATGACATT < 41bp 0.712263113435192 0.47855881107248 0.10563016 0.047771662 prediction 0.424526226870383 Functional Loss - SRD5A3 ENSG00000128039 CDS Human protein_coding chr4:56230359 chr4:56230356 synonymous SNV . 0 24 hm5C_associated_SNPs_87851 1 Uncertain significance not specified RCV000194835.1
3875 chr21 47544599 47544599 1 + G A rs147158850 47544596 + 47544576 47544616 41 TCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCC TCCCCCTGGTGAGCCAGGCCCTCAGGGGCCAAGAGGAGTCC < 41bp 0.712124886056493 0.456768987216797 0.41793507 0.27316633 prediction 0.424249772112987 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47544596 chr21:47544599 nonsynonymous SNV 0.998 4 24 hm5C_associated_SNPs_87961 2 Likely benign Myosclerosis RCV000363263.1
3875 chr21 47544599 47544599 1 + G A rs147158850 47544596 + 47544576 47544616 41 TCCCCCTGGTGAGCCAGGCCCTCGGGGGCCAAGAGGAGTCC TCCCCCTGGTGAGCCAGGCCCTCAGGGGCCAAGAGGAGTCC < 41bp 0.712124886056493 0.456768987216797 0.41793507 0.27316633 prediction 0.424249772112987 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47544596 chr21:47544599 nonsynonymous SNV 0.998 4 24 hm5C_associated_SNPs_87961 2 Likely benign Collagen VI-related myopathy RCV000393901.1
3875 chr10 71003096 71003096 1 + G A rs202105296 71003093 + 71003073 71003113 41 AGTTCGACAGGGAGCTGGACCTCGGCTCTCTCAACCCAGGA AGTTCGACAGGGAGCTGGACCTCAGCTCTCTCAACCCAGGA < 41bp 0.821534766008243 0.609412077516456 0.37103045 0.23307174 prediction 0.424245376983574 Functional Loss - HKDC1 ENSG00000156510 CDS Human protein_coding chr10:71003093 chr10:71003096 nonsynonymous SNV 0.996 2 24 hm5C_associated_SNPs_87963 1 Uncertain significance Keratoconus 1 RCV000491251.1
3875 chr16 28906225 28906225 1 + C T rs138880727 28906223 + 28906203 28906243 41 GAGAAGATGAATGTGTTCAACACGGATGTGAGAAGCCTCTC GAGAAGATGAATGTGTTCAACATGGATGTGAGAAGCCTCTC < 41bp 0.84699414077686 0.634901661186075 0.3244469 0.33927637 prediction 0.424184959181571 Functional Loss - ATP2A1 ENSG00000196296 CDS Human protein_coding chr16:28906223 chr16:28906225 nonsynonymous SNV 0.987 2 23 hm5C_associated_SNPs_87984 1 Uncertain significance not specified RCV000425443.1
3875 chr5 126746147 126746147 1 + C T rs35550094 126746144 + 126746124 126746164 41 GCTGAGACCTGCCAGTGTGTCAACGGAGGGAAGTGTTACCA GCTGAGACCTGCCAGTGTGTCAATGGAGGGAAGTGTTACCA < 41bp 0.740958811307503 0.528908525668337 0.8027745 0.35640067 prediction 0.424100571278331 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126746144 chr5:126746147 synonymous SNV . 0 24 hm5C_associated_SNPs_88032 1 Benign not specified RCV000248940.2
3875 chrX 153609158 153609158 1 + G C rs2070818 153609154 + 153609134 153609174 41 TCTTCTTCTGAAGAGGAGTGCAAGGATAGGTGCGTAGTGGG TCTTCTTCTGAAGAGGAGTGCAAGCATAGGTGCGTAGTGGG < 41bp 0.711927859937666 0.419974171006406 0.5777426 0.19347143 prediction 0.423855719875331 Functional Loss - EMD ENSG00000102119 CDS Human protein_coding chrX:153609154 chrX:153609158 nonsynonymous SNV 0.952 3 25 hm5C_associated_SNPs_88142 1 Benign Emery-Dreifuss muscular dystrophy 1, X-linked RCV000230785.1
3875 chr2 241813413 241813413 1 + C T LIHC 241813411 + 241813391 241813431 41 ACAGGCATCGACATCCTGTACTCGGGCTCCCAGAAGGCCCT ACAGGCATCGACATCCTGTACTTGGGCTCCCAGAAGGCCCT < 41bp 0.711915986252801 0.437549847140842 0.090807885 0.073966175 prediction 0.423831972505601 Functional Loss - AGXT ENSG00000172482 CDS Human protein_coding chr2:241813411 chr2:241813413 nonsynonymous SNV 0.019 4 23 hm5C_associated_SNPs_88156 1 Pathogenic Primary hyperoxaluria, type I RCV000186324.1
3875 chr15 41021818 41021818 1 + C T MESO 41021815 + 41021795 41021835 41 CCAGGTTTCTGCGGATGCTTCTGCGACTCGCTGATGAGGTA CCAGGTTTCTGCGGATGCTTCTGTGACTCGCTGATGAGGTA < 41bp 0.767705708694862 0.555833438572305 0.2994741 0.29549518 prediction 0.423744540245114 Functional Loss - RAD51 ENSG00000051180 CDS Human protein_coding chr15:41021815 chr15:41021818 stopgain 0.998 1 24 hm5C_associated_SNPs_88197 1 other Mirror movements 2 RCV000022747.5
3875 chr4 56878116 56878116 1 + G A rs145959811 56878113 + 56878093 56878133 41 ACACTGAGAGGAGACATCTTCGAGAAAGAGTGGAGCTATTA ACACTGAGAGGAGACATCTTCGAAAAAGAGTGGAGCTATTA < 41bp 0.711796994321376 0.49917522672313 0.6868847 0.3225081 prediction 0.423593988642752 Functional Loss - CEP135 ENSG00000174799 CDS Human protein_coding chr4:56878113 chr4:56878116 nonsynonymous SNV 0.997 4 24 hm5C_associated_SNPs_88257 1 Uncertain significance not specified RCV000193492.1
3875 chr11 128787689 128787689 1 + G A rs2846696 128787686 + 128787666 128787706 41 CTGGGCCAGGCAAGATGGCTCACGCCTGTGATCCCAGCATT CTGGGCCAGGCAAGATGGCTCACACCTGTGATCCCAGCATT < 41bp 0.712302332261481 0.50062747646081 0.07845509 0.03670323 prediction 0.423349711601342 Functional Loss - KCNJ5 ENSG00000120457 UTR3 Human protein_coding chr11:128787686 chr11:128787689 . . 0 24 hm5C_associated_SNPs_88363 2 Benign Romano-Ward syndrome RCV000305788.1
3875 chr11 128787689 128787689 1 + G A rs2846696 128787686 + 128787666 128787706 41 CTGGGCCAGGCAAGATGGCTCACGCCTGTGATCCCAGCATT CTGGGCCAGGCAAGATGGCTCACACCTGTGATCCCAGCATT < 41bp 0.712302332261481 0.50062747646081 0.07845509 0.03670323 prediction 0.423349711601342 Functional Loss - KCNJ5 ENSG00000120457 UTR3 Human protein_coding chr11:128787686 chr11:128787689 . . 0 24 hm5C_associated_SNPs_88363 2 Benign Familial hyperaldosteronism RCV000401496.1
3875 chr12 52307830 52307830 1 + C T LUSC 52307828 + 52307808 52307848 41 CCTGGTGCAGAGGACAGTGGCACGGCAGGTTGCCTTGGTGG CCTGGTGCAGAGGACAGTGGCATGGCAGGTTGCCTTGGTGG < 41bp 0.711617406222355 0.450354060897058 0.31603175 0.40105528 prediction 0.423234812444709 Functional Loss - ACVRL1 ENSG00000139567 CDS Human protein_coding chr12:52307828 chr12:52307830 nonsynonymous SNV 0.980 4 23 hm5C_associated_SNPs_88411 1 Likely pathogenic not provided RCV000493276.1
3875 chr21 47552385 47552385 1 + C T rs6652 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.478710295895908 0.27576464 0.22234544 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552385 synonymous SNV . 0 23 hm5C_associated_SNPs_88415 4 Benign not specified RCV000079889.7
3875 chr21 47552385 47552385 1 + C T rs6652 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.478710295895908 0.27576464 0.22234544 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552385 synonymous SNV . 0 23 hm5C_associated_SNPs_88415 4 Benign Myosclerosis RCV000335530.1
3875 chr21 47552385 47552385 1 + C T rs6652 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.478710295895908 0.27576464 0.22234544 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552385 synonymous SNV . 0 23 hm5C_associated_SNPs_88415 4 Benign Collagen VI-related myopathy RCV000373863.1
3875 chr21 47552385 47552385 1 + C T rs6652 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.478710295895908 0.27576464 0.22234544 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552385 synonymous SNV . 0 23 hm5C_associated_SNPs_88415 4 Likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY RCV000404594.1
3875 chr21 47552386 47552386 1 + G A rs117931394 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.463245010668348 0.27576464 0.13196495 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552386 nonsynonymous SNV 0.002 0 24 hm5C_associated_SNPs_88416 4 other not specified RCV000116794.5
3875 chr21 47552386 47552386 1 + G A rs117931394 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.463245010668348 0.27576464 0.13196495 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552386 nonsynonymous SNV 0.002 0 24 hm5C_associated_SNPs_88416 4 Benign Collagen VI-related myopathy RCV000281717.1
3875 chr21 47552386 47552386 1 + G A rs117931394 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.463245010668348 0.27576464 0.13196495 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552386 nonsynonymous SNV 0.002 0 24 hm5C_associated_SNPs_88416 4 Likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY RCV000290682.1
3875 chr21 47552386 47552386 1 + G A rs117931394 47552383 + 47552363 47552403 41 CCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACGAG CCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACGAG < 41bp 0.711614775292096 0.463245010668348 0.27576464 0.13196495 prediction 0.423229550584191 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552383 chr21:47552386 nonsynonymous SNV 0.002 0 24 hm5C_associated_SNPs_88416 4 Benign Myosclerosis RCV000339033.1
3875 chr16 2546477 2546477 1 + G A SKCM 2546474 + 2546454 2546494 41 CCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGC CCAGCTACTGCCTGAATGCACGCAGCGAGGGGGCCGTGCGC < 41bp 0.833285302161758 0.621861127048955 0.5886044 0.32931313 prediction 0.422848350225606 Functional Loss - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546474 chr16:2546477 nonsynonymous SNV 0.014 3 24 hm5C_associated_SNPs_88604 2 Pathogenic Digitorenocerebral syndrome RCV000192068.1
3875 chr16 2546477 2546477 1 + G A SKCM 2546474 + 2546454 2546494 41 CCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGC CCAGCTACTGCCTGAATGCACGCAGCGAGGGGGCCGTGCGC < 41bp 0.833285302161758 0.621861127048955 0.5886044 0.32931313 prediction 0.422848350225606 Functional Loss - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546474 chr16:2546477 nonsynonymous SNV 0.014 3 24 hm5C_associated_SNPs_88604 2 Likely pathogenic not provided RCV000420758.1
3875 chr3 58107011 58107011 1 + G A rs138449267 58107008 + 58106988 58107028 41 CAGGAGTTCACCGTTGATACCAGGGGGGCAGGAGGCCAGGG CAGGAGTTCACCGTTGATACCAGAGGGGCAGGAGGCCAGGG < 41bp 0.711281654687582 0.468735374898413 0.9342099 0.9080626 prediction 0.422563309375164 Functional Loss - FLNB ENSG00000136068 CDS Human protein_coding chr3:58107008 chr3:58107011 synonymous SNV . 0 24 hm5C_associated_SNPs_88730 1 Likely benign FLNB-Related Spectrum Disorders RCV000321969.1
3875 chr3 45588912 45588912 1 + G A rs34965084 45588909 + 45588889 45588929 41 CCCGGGACCAGGACAAAGTCCACGAATTTGTTCTTCAAAGC CCCGGGACCAGGACAAAGTCCACAAATTTGTTCTTCAAAGC < 41bp 0.711174299926101 0.472303157939195 0.06836307 0.06127149 prediction 0.422348599852202 Functional Loss - LARS2 ENSG00000011376 CDS Human protein_coding chr3:45588909 chr3:45588912 nonsynonymous SNV 0.764 1 24 hm5C_associated_SNPs_88821 1 Likely benign not specified RCV000433645.1
3875 chr14 74166948 74166948 1 + C T rs140333940 74166946 + 74166926 74166966 41 CATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAG CATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAG < 41bp 0.719779633598528 0.508682985170769 0.89797056 0.8986329 prediction 0.422193296855518 Functional Loss - DNAL1 ENSG00000258660 ncRNA_exonic Human antisense chr14:74166946 chr14:74166948 . . 0 23 hm5C_associated_SNPs_88906 1 Uncertain significance Primary ciliary dyskinesia RCV000286980.1
3875 chr20 62641575 62641575 1 + G A rs2427588 62641572 + 62641552 62641592 41 GCCCTCGAGCATGTTCCAAACTCGGTTCGCTTGTGGAAAGC GCCCTCGAGCATGTTCCAAACTCAGTTCGCTTGTGGAAAGC < 41bp 0.809813139667382 0.598723868305832 0.27002093 0.09666768 prediction 0.422178542723099 Functional Loss - PRPF6 ENSG00000101161 CDS Human protein_coding chr20:62641572 chr20:62641575 synonymous SNV . 0 24 hm5C_associated_SNPs_88912 1 Likely benign Retinitis Pigmentosa, Dominant RCV000396618.1
3875 chr16 68835779 68835779 1 + C T STAD 68835776 + 68835756 68835796 41 TGAATACAGTGGGGCACCACCACCGCCCCCCGCCCCATCAG TGAATACAGTGGGGCACCACCACTGCCCCCCGCCCCATCAG < 41bp 0.72521312739301 0.514325559820269 0.27586085 0.14708698 prediction 0.421775135145483 Functional Loss - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68835776 chr16:68835779 nonsynonymous SNV 0.015 2 24 hm5C_associated_SNPs_89100 1 other Hereditary diffuse gastric cancer RCV000233582.3
3875 chr2 61277848 61277848 1 + G A rs183689971 61277845 + 61277825 61277865 41 GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC GCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCC < 41bp 0.769376524787796 0.558552276530146 0.26798397 0.20450473 prediction 0.4216484965153 Functional Loss - PEX13 ENSG00000162928 UTR3 Human protein_coding chr2:61277845 chr2:61277848 . . 0 24 hm5C_associated_SNPs_89151 1 Likely benign Zellweger syndrome RCV000363139.1
3875 chr2 26624893 26624893 1 + G C rs116549039 26624892 + 26624872 26624912 41 GTCCCTAGAGGCCCTGGACCCGAACGTGGACGAGCACTTGT GTCCCTAGAGGCCCTGGACCCCAACGTGGACGAGCACTTGT < 41bp 0.710812120643165 0.385572558936183 0.83352125 0.4830068 prediction 0.42162424128633 Functional Loss - DRC1 ENSG00000157856 CDS Human protein_coding chr2:26624892 chr2:26624893 synonymous SNV . 0 22 hm5C_associated_SNPs_89159 2 Benign Primary ciliary dyskinesia RCV000230855.2
3875 chr2 26624893 26624893 1 + G C rs116549039 26624892 + 26624872 26624912 41 GTCCCTAGAGGCCCTGGACCCGAACGTGGACGAGCACTTGT GTCCCTAGAGGCCCTGGACCCCAACGTGGACGAGCACTTGT < 41bp 0.710812120643165 0.385572558936183 0.83352125 0.4830068 prediction 0.42162424128633 Functional Loss - DRC1 ENSG00000157856 CDS Human protein_coding chr2:26624892 chr2:26624893 synonymous SNV . 0 22 hm5C_associated_SNPs_89159 2 Benign not specified RCV000455144.1
3875 chr12 863177 863177 1 + C T rs34880640 863175 + 863155 863195 41 GCCCCTGGGGAACAGGCCGTCGCGGGCCCTGCCCCCTCGAC GCCCCTGGGGAACAGGCCGTCGTGGGCCCTGCCCCCTCGAC < 41bp 0.738360432543109 0.52755687634115 0.8905128 0.8458279 prediction 0.421607112403919 Functional Loss - WNK1 ENSG00000060237 CDS Human protein_coding chr12:863175 chr12:863177 nonsynonymous SNV 0.001 0 23 hm5C_associated_SNPs_89164 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000329802.1
3875 chr12 863177 863177 1 + C T rs34880640 863175 + 863155 863195 41 GCCCCTGGGGAACAGGCCGTCGCGGGCCCTGCCCCCTCGAC GCCCCTGGGGAACAGGCCGTCGTGGGCCCTGCCCCCTCGAC < 41bp 0.738360432543109 0.52755687634115 0.8905128 0.8458279 prediction 0.421607112403919 Functional Loss - WNK1 ENSG00000060237 CDS Human protein_coding chr12:863175 chr12:863177 nonsynonymous SNV 0.001 0 23 hm5C_associated_SNPs_89164 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000384235.1
3875 chr22 24911249 24911249 1 + C T rs74883165 24911246 + 24911226 24911266 41 AGGATCGCGGTGAACATTTGCTACGGGCGGCACCACCCCCT AGGATCGCGGTGAACATTTGCTATGGGCGGCACCACCCCCT < 41bp 0.732326689287292 0.521668132544329 0.24166325 0.2408194 prediction 0.421317113485927 Functional Loss - UPB1 ENSG00000100024 CDS Human protein_coding chr22:24911246 chr22:24911249 synonymous SNV . 0 24 hm5C_associated_SNPs_89272 1 not provided not provided RCV000086543.1
3875 chr3 10191540 10191540 1 + T C KIRC 10191539 + 10191519 10191559 41 AGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCTC AGCCTGAGAATTACAGGAGACCGGACATCGTCAGGTCGCTC < 41bp 0.804449270074443 0.59380033718713 0.28305057 0.18877044 prediction 0.421297865774626 Functional Loss - VHL ENSG00000134086 CDS Human protein_coding chr3:10191539 chr3:10191540 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_89282 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000492520.1
3875 chr15 57524982 57524982 1 + G A rs12442879 57524979 + 57524959 57524999 41 CACCAATGTCCAGCTTTCATCGCGGCAGTACCAGCAGTTCA CACCAATGTCCAGCTTTCATCGCAGCAGTACCAGCAGTTCA < 41bp 0.759595811831475 0.548981051524121 0.81351805 0.4231795 prediction 0.421229520614708 Functional Loss - TCF12 ENSG00000140262 CDS Human protein_coding chr15:57524979 chr15:57524982 nonsynonymous SNV 0.494 1 24 hm5C_associated_SNPs_89310 1 Benign not specified RCV000253149.1
3875 chr6 112382217 112382217 1 + T C rs1230346 112382216 + 112382196 112382236 41 CTGCTGCAGGGTACAGGGCACTGGACCATTAGATACAACAC CTGCTGCAGGGTACAGGGCACCGGACCATTAGATACAACAC < 41bp 0.793916023090698 0.583304809300851 0.12557769 0.09631243 prediction 0.421222427579693 Functional Loss - WISP3 ENSG00000112761 CDS Human protein_coding chr6:112382216 chr6:112382217 synonymous SNV . 0 22 hm5C_associated_SNPs_89313 1 Likely benign Progressive pseudorheumatoid dysplasia RCV000262720.1
3875 chr11 71820350 71820350 1 + C T rs73543612 71820348 + 71820328 71820368 41 GCTCCAGGGGCCTCCCAGTTCTCGGCCTCAGAAAGCCTCCC GCTCCAGGGGCCTCCCAGTTCTTGGCCTCAGAAAGCCTCCC < 41bp 0.787605848204499 0.577055329308655 0.17614558 0.0859766 prediction 0.421101037791688 Functional Loss - LRTOMT ENSG00000110200;ENSG00000184154 UTR3 Human other chr11:71820348 chr11:71820350 . . 0 23 hm5C_associated_SNPs_89369 1 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000353831.1
3875 chr19 11557933 11557933 1 + C T rs201337319 11557930 + 11557910 11557950 41 CAGACAGACGCCACCTCTTTCTACGACCGCGTCTGGGCCGC CAGACAGACGCCACCTCTTTCTATGACCGCGTCTGGGCCGC < 41bp 0.750149691033046 0.53965080928522 0.69728494 0.5352503 prediction 0.420997763495651 Functional Loss - PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11557930 chr19:11557933 synonymous SNV . 0 24 hm5C_associated_SNPs_89410 1 Likely benign Polycystic liver disease RCV000275656.1
3875 chr16 50745926 50745926 1 + C T rs2066844 50745923 + 50745903 50745943 41 AGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCC AGACATCTGAGAAGGCCCTGCTCTGGCGCCAGGCCTGTGCC < 41bp 0.718541981727877 0.508129415661722 0.45337665 0.40023184 prediction 0.42082513213231 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745923 chr16:50745926 nonsynonymous SNV 0.472 2 24 hm5C_associated_SNPs_89484 5 other INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO RCV000004957.4
3875 chr16 50745926 50745926 1 + C T rs2066844 50745923 + 50745903 50745943 41 AGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCC AGACATCTGAGAAGGCCCTGCTCTGGCGCCAGGCCTGTGCC < 41bp 0.718541981727877 0.508129415661722 0.45337665 0.40023184 prediction 0.42082513213231 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745923 chr16:50745926 nonsynonymous SNV 0.472 2 24 hm5C_associated_SNPs_89484 5 other not specified RCV000203217.1
3875 chr16 50745926 50745926 1 + C T rs2066844 50745923 + 50745903 50745943 41 AGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCC AGACATCTGAGAAGGCCCTGCTCTGGCGCCAGGCCTGTGCC < 41bp 0.718541981727877 0.508129415661722 0.45337665 0.40023184 prediction 0.42082513213231 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745923 chr16:50745926 nonsynonymous SNV 0.472 2 24 hm5C_associated_SNPs_89484 5 Likely benign Crohn disease RCV000273268.1
3875 chr16 50745926 50745926 1 + C T rs2066844 50745923 + 50745903 50745943 41 AGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCC AGACATCTGAGAAGGCCCTGCTCTGGCGCCAGGCCTGTGCC < 41bp 0.718541981727877 0.508129415661722 0.45337665 0.40023184 prediction 0.42082513213231 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745923 chr16:50745926 nonsynonymous SNV 0.472 2 24 hm5C_associated_SNPs_89484 5 Likely benign Blau syndrome RCV000365422.1
3875 chr16 50745926 50745926 1 + C T rs2066844 50745923 + 50745903 50745943 41 AGACATCTGAGAAGGCCCTGCTCCGGCGCCAGGCCTGTGCC AGACATCTGAGAAGGCCCTGCTCTGGCGCCAGGCCTGTGCC < 41bp 0.718541981727877 0.508129415661722 0.45337665 0.40023184 prediction 0.42082513213231 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745923 chr16:50745926 nonsynonymous SNV 0.472 2 24 hm5C_associated_SNPs_89484 5 other YAO SYNDROME, SUSCEPTIBILITY TO RCV000416493.1
3875 chr17 68171388 68171388 1 + G A GBM 68171385 + 68171365 68171405 41 GTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACG GTGAGAAGGGGCAACGGTACCTCACAGACATCTTCACCACG < 41bp 0.710411390739144 0.465964190207888 0.06298128 0.041653454 prediction 0.420822781478287 Functional Loss - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68171385 chr17:68171388 nonsynonymous SNV 0.968 2 24 hm5C_associated_SNPs_89486 1 Uncertain significance not specified RCV000170973.2
3875 chrX 17394091 17394091 1 + C T rs398124605 17394089 + 17394069 17394109 41 ACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGC ACCTTCAGGGCTGCCACCGCCGTCGCCGCCACTGCCCGCGC < 41bp 0.710387978701382 0.487439953154435 0.7908809 0.5400372 prediction 0.420775957402765 Functional Loss - NHS ENSG00000188158 CDS Human protein_coding chrX:17394089 chrX:17394091 nonsynonymous SNV 0.163 0 23 hm5C_associated_SNPs_89517 2 Benign not specified RCV000173025.3
3875 chrX 17394091 17394091 1 + C T rs398124605 17394089 + 17394069 17394109 41 ACCTTCAGGGCTGCCACCGCCGCCGCCGCCACTGCCCGCGC ACCTTCAGGGCTGCCACCGCCGTCGCCGCCACTGCCCGCGC < 41bp 0.710387978701382 0.487439953154435 0.7908809 0.5400372 prediction 0.420775957402765 Functional Loss - NHS ENSG00000188158 CDS Human protein_coding chrX:17394089 chrX:17394091 nonsynonymous SNV 0.163 0 23 hm5C_associated_SNPs_89517 2 Likely benign not provided RCV000224466.1
3875 chr7 73477983 73477983 1 + G A COAD 73477980 + 73477960 73478000 41 GAGCCGCTGGGCTCGGAGGACTCGGAGTCGGAGGGCTTGGA GAGCCGCTGGGCTCGGAGGACTCAGAGTCGGAGGGCTTGGA < 41bp 0.7544047702708 0.544028516983595 0.9268058 0.9004462 prediction 0.42075250657441 Functional Loss - ELN ENSG00000049540 CDS Human protein_coding chr7:73477980 chr7:73477983 nonsynonymous SNV 0.009 3 24 hm5C_associated_SNPs_89531 1 Uncertain significance not specified RCV000216071.1
3875 chr5 36677083 36677083 1 + G C rs2032892 36677079 + 36677059 36677099 41 TGCTGTGATAAACAATGTGTCTGAGGCCATGGAGACTCTTA TGCTGTGATAAACAATGTGTCTGACGCCATGGAGACTCTTA < 41bp 0.710292911203099 0.412524868700502 0.14250669 0.04147601 prediction 0.420585822406198 Functional Loss - SLC1A3 ENSG00000079215 CDS Human protein_coding chr5:36677079 chr5:36677083 nonsynonymous SNV 0.991 1 25 hm5C_associated_SNPs_89611 2 Likely benign not specified RCV000118364.2
3875 chr5 36677083 36677083 1 + G C rs2032892 36677079 + 36677059 36677099 41 TGCTGTGATAAACAATGTGTCTGAGGCCATGGAGACTCTTA TGCTGTGATAAACAATGTGTCTGACGCCATGGAGACTCTTA < 41bp 0.710292911203099 0.412524868700502 0.14250669 0.04147601 prediction 0.420585822406198 Functional Loss - SLC1A3 ENSG00000079215 CDS Human protein_coding chr5:36677079 chr5:36677083 nonsynonymous SNV 0.991 1 25 hm5C_associated_SNPs_89611 2 Benign Episodic ataxia RCV000396581.1
3875 chr5 126732300 126732300 1 + C T rs34649270 126732297 + 126732277 126732317 41 AATGGGGCTCTGTGCAACCCCATCACCGGGGCTTGCCACTG AATGGGGCTCTGTGCAACCCCATTACCGGGGCTTGCCACTG < 41bp 0.738508118449595 0.528291223597678 0.08393067 0.04582116 prediction 0.420433789703834 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126732297 chr5:126732300 synonymous SNV . 0 24 hm5C_associated_SNPs_89676 2 Uncertain significance Myopathy, areflexia, respiratory distress, and dysphagia, early-onset RCV000321353.1
3875 chr5 126732300 126732300 1 + C T rs34649270 126732297 + 126732277 126732317 41 AATGGGGCTCTGTGCAACCCCATCACCGGGGCTTGCCACTG AATGGGGCTCTGTGCAACCCCATTACCGGGGCTTGCCACTG < 41bp 0.738508118449595 0.528291223597678 0.08393067 0.04582116 prediction 0.420433789703834 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126732297 chr5:126732300 synonymous SNV . 0 24 hm5C_associated_SNPs_89676 2 Likely benign not specified RCV000419238.1
3875 chr10 43622132 43622132 1 + G A SKCM 43622129 + 43622109 43622149 41 CTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCCACAT CTGTAATAATGCCCCCCTCCCTCAAGCCCTCCCTTCCACAT < 41bp 0.800912427156987 0.590711454773264 0.069206476 0.0056813955 prediction 0.420401944767445 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43622129 chr10:43622132 nonsynonymous SNV 0.997 4 24 hm5C_associated_SNPs_89692 1 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000225774.1
3875 chr19 11101924 11101924 1 + C T COAD 11101922 + 11101902 11101942 41 GCAGCAAGCGCCAGTCCCTGCGCGAGGCCCGCATCACTGAG GCAGCAAGCGCCAGTCCCTGCGTGAGGCCCGCATCACTGAG < 41bp 0.84160971172973 0.631526637003513 0.58036214 0.33774784 prediction 0.420166149452436 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11101922 chr19:11101924 synonymous SNV . 0 23 hm5C_associated_SNPs_89780 1 Uncertain significance Rhabdoid tumor predisposition syndrome 2 RCV000234374.2
3875 chr12 124241506 124241506 1 + C T rs17883456 124241503 + 124241483 124241523 41 TCTGATCATGGAAGGGCTTTCTGCGTTTCTTCACGCCATAC TCTGATCATGGAAGGGCTTTCTGTGTTTCTTCACGCCATAC < 41bp 0.754232202745844 0.544323396771554 0.5212405 0.43114424 prediction 0.41981761194858 Functional Loss - ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124241503 chr12:124241506 nonsynonymous SNV 0.962 5 24 hm5C_associated_SNPs_89909 2 Benign not specified RCV000081549.5
3875 chr12 124241506 124241506 1 + C T rs17883456 124241503 + 124241483 124241523 41 TCTGATCATGGAAGGGCTTTCTGCGTTTCTTCACGCCATAC TCTGATCATGGAAGGGCTTTCTGTGTTTCTTCACGCCATAC < 41bp 0.754232202745844 0.544323396771554 0.5212405 0.43114424 prediction 0.41981761194858 Functional Loss - ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124241503 chr12:124241506 nonsynonymous SNV 0.962 5 24 hm5C_associated_SNPs_89909 2 Likely benign Cutis laxa, recessive RCV000358680.1
3875 chr14 74164218 74164218 1 + G T rs557383072 74164216 + 74164196 74164236 41 AGCACTTTGGGAGGCCGAGGCGGGCGGATCATCTGAGATCA AGCACTTTGGGAGGCCGAGGCGTGCGGATCATCTGAGATCA < 41bp 0.709903235291817 0.382440449823122 0.911741 0.76497805 prediction 0.419806470583633 Functional Loss - DNAL1 ENSG00000119661 UTR3 Human protein_coding chr14:74164216 chr14:74164218 . . 0 23 hm5C_associated_SNPs_89918 1 Uncertain significance Primary ciliary dyskinesia RCV000353777.1
3875 chr5 126732333 126732333 1 + G A rs201076330 126732330 + 126732310 126732350 41 TGCCACTGTGCTGCGGGCTTCCGGGGCTGGCGCTGCGAGGA TGCCACTGTGCTGCGGGCTTCCGAGGCTGGCGCTGCGAGGA < 41bp 0.819910264101582 0.610045144702328 0.9451279 0.93367195 prediction 0.419730238798509 Functional Loss - MEGF10 ENSG00000145794 CDS Human protein_coding chr5:126732330 chr5:126732333 synonymous SNV . 0 24 hm5C_associated_SNPs_89955 1 Likely benign not specified RCV000424962.1
3875 chr20 30411298 30411298 1 + C T rs142620954 30411295 + 30411275 30411315 41 CCCAGATGATTGCCCGCCACCTCCGGCCCCCTTCCCTCACC CCCAGATGATTGCCCGCCACCTCTGGCCCCCTTCCCTCACC < 41bp 0.743362823596225 0.533537692140345 0.065832704 0.01973778 prediction 0.419650262911761 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30411295 chr20:30411298 nonsynonymous SNV 0.852 2 24 hm5C_associated_SNPs_89997 2 Uncertain significance not specified RCV000151380.2
3875 chr20 30411298 30411298 1 + C T rs142620954 30411295 + 30411275 30411315 41 CCCAGATGATTGCCCGCCACCTCCGGCCCCCTTCCCTCACC CCCAGATGATTGCCCGCCACCTCTGGCCCCCTTCCCTCACC < 41bp 0.743362823596225 0.533537692140345 0.065832704 0.01973778 prediction 0.419650262911761 Functional Loss - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30411295 chr20:30411298 nonsynonymous SNV 0.852 2 24 hm5C_associated_SNPs_89997 2 Benign Familial hypertrophic cardiomyopathy 1 RCV000227597.1
3875 chr8 48878772 48878772 1 + C T rs17334388 48878769 + 48878749 48878789 41 ATTGACCAGCTCATCACCATCAGCGGCATGGTGATCAGGAC ATTGACCAGCTCATCACCATCAGTGGCATGGTGATCAGGAC < 41bp 0.75765610479726 0.54787368371676 0.7789186 0.4558377 prediction 0.419564842161 Functional Loss - MCM4 ENSG00000104738 CDS Human protein_coding chr8:48878769 chr8:48878772 synonymous SNV . 0 24 hm5C_associated_SNPs_90038 1 Uncertain significance Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000269318.1
3875 chr18 72999575 72999575 1 + C T TGCT 72999572 + 72999552 72999592 41 GGGGATCATCATGGACCACTCACCGGAGCCTTCCTTCATCA GGGGATCATCATGGACCACTCACTGGAGCCTTCCTTCATCA < 41bp 0.709763576874983 0.493835282246367 0.063045144 0.010386884 prediction 0.419527153749965 Functional Loss - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72999572 chr18:72999575 nonsynonymous SNV 0.216 4 24 hm5C_associated_SNPs_90058 1 Uncertain significance Aural atresia, congenital RCV000259882.1
3875 chr21 47552262 47552262 1 + G A rs138074469 47552259 + 47552239 47552279 41 GTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCA GTGTTCCTCACGGACGGCGTCACAGGCAACGACAGTCTGCA < 41bp 0.709661729576308 0.472770745187903 0.7553622 0.70113987 prediction 0.419323459152616 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552259 chr21:47552262 synonymous SNV . 0 24 hm5C_associated_SNPs_90157 3 Likely benign Collagen VI-related myopathy RCV000271477.1
3875 chr21 47552262 47552262 1 + G A rs138074469 47552259 + 47552239 47552279 41 GTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCA GTGTTCCTCACGGACGGCGTCACAGGCAACGACAGTCTGCA < 41bp 0.709661729576308 0.472770745187903 0.7553622 0.70113987 prediction 0.419323459152616 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552259 chr21:47552262 synonymous SNV . 0 24 hm5C_associated_SNPs_90157 3 Likely benign Myosclerosis RCV000363750.1
3875 chr21 47552262 47552262 1 + G A rs138074469 47552259 + 47552239 47552279 41 GTGTTCCTCACGGACGGCGTCACGGGCAACGACAGTCTGCA GTGTTCCTCACGGACGGCGTCACAGGCAACGACAGTCTGCA < 41bp 0.709661729576308 0.472770745187903 0.7553622 0.70113987 prediction 0.419323459152616 Functional Loss - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552259 chr21:47552262 synonymous SNV . 0 24 hm5C_associated_SNPs_90157 3 Benign not specified RCV000428231.1
3875 chr14 74727407 74727407 1 + G A rs75395981 74727404 + 74727384 74727424 41 TGGAGCAGGACGAGCGGGGCCCCGACGCTCAGGCGGCCATC TGGAGCAGGACGAGCGGGGCCCCAACGCTCAGGCGGCCATC < 41bp 0.810640591185355 0.601020700752409 0.32309747 0.26662496 prediction 0.419239780865892 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74727404 chr14:74727407 nonsynonymous SNV 0.843 2 24 hm5C_associated_SNPs_90187 3 Benign not specified RCV000179037.1
3875 chr14 74727407 74727407 1 + G A rs75395981 74727404 + 74727384 74727424 41 TGGAGCAGGACGAGCGGGGCCCCGACGCTCAGGCGGCCATC TGGAGCAGGACGAGCGGGGCCCCAACGCTCAGGCGGCCATC < 41bp 0.810640591185355 0.601020700752409 0.32309747 0.26662496 prediction 0.419239780865892 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74727404 chr14:74727407 nonsynonymous SNV 0.843 2 24 hm5C_associated_SNPs_90187 3 Likely benign Microphthalmia, isolated 6 RCV000299152.1
3875 chr14 74727407 74727407 1 + G A rs75395981 74727404 + 74727384 74727424 41 TGGAGCAGGACGAGCGGGGCCCCGACGCTCAGGCGGCCATC TGGAGCAGGACGAGCGGGGCCCCAACGCTCAGGCGGCCATC < 41bp 0.810640591185355 0.601020700752409 0.32309747 0.26662496 prediction 0.419239780865892 Functional Loss - VSX2 ENSG00000119614 CDS Human protein_coding chr14:74727404 chr14:74727407 nonsynonymous SNV 0.843 2 24 hm5C_associated_SNPs_90187 3 Likely benign VSX2-related Microphthalmia RCV000394769.1
3875 chr11 17629933 17629933 1 + G A rs147318012 17629930 + 17629910 17629950 41 CTTCCAAACCTGCCGGGACCCACGGGCAGCCAGCTGCCGGG CTTCCAAACCTGCCGGGACCCACAGGCAGCCAGCTGCCGGG < 41bp 0.782815346030475 0.573394469433181 0.6158812 0.3691276 prediction 0.418841753194588 Functional Loss - OTOG ENSG00000188162 CDS Human protein_coding chr11:17629930 chr11:17629933 nonsynonymous SNV 0.973 0 24 hm5C_associated_SNPs_90347 1 Likely benign not specified RCV000219318.1
3875 chr1 156108328 156108328 1 + C T STAD 156108326 + 156108306 156108346 41 CCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGG CCCGCTGAGTACAACCTGCGCTTGCGCACCGTGCTGTGCGG < 41bp 0.746899009157032 0.537529544625961 0.23516083 0.23428199 prediction 0.418738929062143 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156108326 chr1:156108328 nonsynonymous SNV 0.994 5 23 hm5C_associated_SNPs_90400 2 not provided not provided RCV000057354.3
3875 chr1 156108328 156108328 1 + C T STAD 156108326 + 156108306 156108346 41 CCCGCTGAGTACAACCTGCGCTCGCGCACCGTGCTGTGCGG CCCGCTGAGTACAACCTGCGCTTGCGCACCGTGCTGTGCGG < 41bp 0.746899009157032 0.537529544625961 0.23516083 0.23428199 prediction 0.418738929062143 Functional Loss - LMNA ENSG00000160789 CDS Human protein_coding chr1:156108326 chr1:156108328 nonsynonymous SNV 0.994 5 23 hm5C_associated_SNPs_90400 2 Uncertain significance not specified RCV000235168.2
3875 chr4 108852763 108852763 1 + G A rs112053024 108852760 + 108852740 108852780 41 AGCTGCGTGCGCGTCTCCTCCAGGCAGCAAGGGGAACCCGA AGCTGCGTGCGCGTCTCCTCCAGACAGCAAGGGGAACCCGA < 41bp 0.798550563296897 0.589192181948233 0.862073 0.43216446 prediction 0.418716762697329 Functional Loss - LOC101929595 ENSG00000245293 ncRNA_intronic Human antisense chr4:108852760 chr4:108852763 . . 0 24 hm5C_associated_SNPs_90411 1 Benign not specified RCV000424711.1
3875 chr19 14675889 14675889 1 + C T rs59273619 14675887 + 14675867 14675907 41 TTCTCTGACAGATCTGCCAGCTCGGCAACTTCTCCATCCAC TTCTCTGACAGATCTGCCAGCTTGGCAACTTCTCCATCCAC < 41bp 0.709264984869856 0.447199529351182 0.21853292 0.16888395 prediction 0.418529969739713 Functional Loss - TECR ENSG00000099797 CDS Human protein_coding chr19:14675887 chr19:14675889 synonymous SNV . 0 23 hm5C_associated_SNPs_90487 1 Likely benign not specified RCV000118622.2
3875 chr17 56787293 56787293 1 + G A UCEC 56787290 + 56787270 56787310 41 AGATGACCTGTCTCTTCGTACTCGGTTATTAAATGGCCTAG AGATGACCTGTCTCTTCGTACTCAGTTATTAAATGGCCTAG < 41bp 0.708933593999427 0.478467778739877 0.53865075 0.2608915 prediction 0.417867187998855 Functional Loss - RAD51C ENSG00000108384 CDS Human protein_coding chr17:56787290 chr17:56787293 nonsynonymous SNV 0.993 4 24 hm5C_associated_SNPs_90760 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000166327.2
3875 chr21 47424229 47424229 1 + G T rs538359005 47424226 + 47424206 47424246 41 CGTCACCTGTGCAGGGCCCTCTGGGGCTCAGCCCTGAGCTG CGTCACCTGTGCAGGGCCCTCTGTGGCTCAGCCCTGAGCTG < 41bp 0.930350785333237 0.721419134087017 0.31715614 0.092505485 prediction 0.41786330249244 Functional Loss - COL6A1 ENSG00000142156 UTR3 Human protein_coding chr21:47424226 chr21:47424229 . . 0 24 hm5C_associated_SNPs_90763 1 Likely benign Collagen VI-related myopathy RCV000373543.1
3875 chr21 47423482 47423482 1 + C T rs150432347 47423480 + 47423460 47423500 41 GCGGTGGTGCAGTACAGCGGCACGGGCCAGCAGCGCCCAGA GCGGTGGTGCAGTACAGCGGCATGGGCCAGCAGCGCCCAGA < 41bp 0.791218649288004 0.582312784730422 0.6118092 0.71476525 prediction 0.417811729115164 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423480 chr21:47423482 nonsynonymous SNV 0.001 1 23 hm5C_associated_SNPs_90786 2 other not specified RCV000252293.2
3875 chr21 47423482 47423482 1 + C T rs150432347 47423480 + 47423460 47423500 41 GCGGTGGTGCAGTACAGCGGCACGGGCCAGCAGCGCCCAGA GCGGTGGTGCAGTACAGCGGCATGGGCCAGCAGCGCCCAGA < 41bp 0.791218649288004 0.582312784730422 0.6118092 0.71476525 prediction 0.417811729115164 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423480 chr21:47423482 nonsynonymous SNV 0.001 1 23 hm5C_associated_SNPs_90786 2 Likely benign Collagen VI-related myopathy RCV000271407.1
3875 chr3 193336676 193336676 1 + C T rs34307082 193336673 + 193336653 193336693 41 TTAAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATC TTAAGGTTCTCCGGAAGAAACGGTGTTTAGAGCAACAGATC < 41bp 0.721772378235546 0.512894177204207 0.55428016 0.39525288 prediction 0.417756402062677 Functional Loss - OPA1 ENSG00000198836 CDS Human protein_coding chr3:193336673 chr3:193336676 nonsynonymous SNV 0.973 1 24 hm5C_associated_SNPs_90817 2 Benign not specified RCV000081770.7
3875 chr3 193336676 193336676 1 + C T rs34307082 193336673 + 193336653 193336693 41 TTAAGGTTCTCCGGAAGAAACGGCGTTTAGAGCAACAGATC TTAAGGTTCTCCGGAAGAAACGGTGTTTAGAGCAACAGATC < 41bp 0.721772378235546 0.512894177204207 0.55428016 0.39525288 prediction 0.417756402062677 Functional Loss - OPA1 ENSG00000198836 CDS Human protein_coding chr3:193336673 chr3:193336676 nonsynonymous SNV 0.973 1 24 hm5C_associated_SNPs_90817 2 Likely benign Optic Atrophy, Dominant RCV000363524.1
3875 chr18 29598948 29598948 1 + T C UCEC 29598947 + 29598927 29598967 41 CCTTCGACTGCGCCGTGTGCCTTGAGGTGTTACACCAGCCT CCTTCGACTGCGCCGTGTGCCCTGAGGTGTTACACCAGCCT < 41bp 0.798767821236347 0.589905549139723 0.25392985 0.3137071 prediction 0.417724544193248 Functional Loss - RNF125 ENSG00000101695 CDS Human protein_coding chr18:29598947 chr18:29598948 nonsynonymous SNV 0.968 4 22 hm5C_associated_SNPs_90825 1 Likely benign not specified RCV000502440.1
3875 chr16 2546476 2546476 1 + C T STAD 2546474 + 2546454 2546494 41 CCAGCTACTGCCTGAATGCACGCGGCGAGGGGGCCGTGCGC CCAGCTACTGCCTGAATGCACGTGGCGAGGGGGCCGTGCGC < 41bp 0.833285302161758 0.624463950275245 0.5886044 0.69801193 prediction 0.417642703773027 Functional Loss - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546474 chr16:2546476 synonymous SNV . 0 23 hm5C_associated_SNPs_90852 1 Likely benign not specified RCV000218340.1
3875 chr17 59560902 59560902 1 + G A rs185650741 59560899 + 59560879 59560919 41 TCTCACGTCTCCTCCATAGCCCCGGGACCGTGTTGCTCCAG TCTCACGTCTCCTCCATAGCCCCAGGACCGTGTTGCTCCAG < 41bp 0.708758763604795 0.489652018542568 0.36453897 0.24199247 prediction 0.417517527209589 Functional Loss - TBX4 ENSG00000121075 UTR3 Human protein_coding chr17:59560899 chr17:59560902 . . 0 24 hm5C_associated_SNPs_90915 1 Likely benign Ischiopatellar dysplasia RCV000356397.1
3875 chr19 11098481 11098481 1 + C T HNSC 11098479 + 11098459 11098499 41 TGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCC TGCCACCGCAGACCCAGTCCCCTGGGCAGCCGGCCCAGCCC < 41bp 0.708739240048826 0.469455510665864 0.42701116 0.3551982 prediction 0.417478480097652 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098479 chr19:11098481 synonymous SNV . 0 23 hm5C_associated_SNPs_90935 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000231959.2
3875 chr2 99013202 99013202 1 + C T rs61752503 99013199 + 99013179 99013219 41 GGGAAGGAGATGTACATCATCAACGAGGGCAAGCTGGCCGT GGGAAGGAGATGTACATCATCAATGAGGGCAAGCTGGCCGT < 41bp 0.725501408562677 0.516787782294043 0.27453515 0.24103397 prediction 0.417427252537268 Functional Loss - CNGA3 ENSG00000144191 CDS Human protein_coding chr2:99013199 chr2:99013202 synonymous SNV . 0 24 hm5C_associated_SNPs_90956 1 Likely benign not specified RCV000393061.1
3875 chr22 29885473 29885473 1 + C T rs5763269 29885470 + 29885450 29885490 41 AGTGAAGGAAGAAGCAAAGTCACCGGCTGAGGCCAAGTCCC AGTGAAGGAAGAAGCAAAGTCACTGGCTGAGGCCAAGTCCC < 41bp 0.726295747074267 0.517585266050727 0.052139252 0.044595987 prediction 0.417420962047081 Functional Loss - NEFH ENSG00000100285 CDS Human protein_coding chr22:29885470 chr22:29885473 nonsynonymous SNV 0.002 3 24 hm5C_associated_SNPs_90958 1 not provided not provided RCV000057185.1
3875 chr12 132425913 132425913 1 + G A rs142044204 132425910 + 132425890 132425930 41 ACCTATTGCTACCTGCTGCCCACGTTTGCCTTTGCGCACAA ACCTATTGCTACCTGCTGCCCACATTTGCCTTTGCGCACAA < 41bp 0.708625114919779 0.470674000404787 0.020416975 0.019839317 prediction 0.417250229839558 Functional Loss - PUS1 ENSG00000177192 CDS Human protein_coding chr12:132425910 chr12:132425913 synonymous SNV . 0 24 hm5C_associated_SNPs_91042 1 Benign not specified RCV000200133.1
3875 chr15 40710657 40710657 1 + C T rs77680513 40710655 + 40710635 40710675 41 CCTCGCAGCCGGGCCTGTGCCACGGCTAGTGTTGTGTGATT CCTCGCAGCCGGGCCTGTGCCATGGCTAGTGTTGTGTGATT < 41bp 0.805387908867885 0.596794439875259 0.17877889 0.14128119 prediction 0.417186937985253 Functional Loss - IVD ENSG00000128928 UTR3 Human protein_coding chr15:40710655 chr15:40710657 . . 0 23 hm5C_associated_SNPs_91070 1 Likely benign Isovaleryl-CoA dehydrogenase deficiency RCV000374007.1
3875 chr4 55141108 55141108 1 + G T UCEC 55141105 + 55141085 55141125 41 GATGCAGCTGCCTTATGACTCAAGATGGGAGTTTCCAAGAG GATGCAGCTGCCTTATGACTCAATATGGGAGTTTCCAAGAG < 41bp 0.70858023756578 0.37707315137202 0.57016784 0.18657026 prediction 0.417160475131561 Functional Loss - PDGFRA ENSG00000134853;ENSG00000145216 CDS Human other chr4:55141105 chr4:55141108 nonsynonymous SNV 0.199 4 24 hm5C_associated_SNPs_91087 1 Uncertain significance Gastrointestinal stromal tumor RCV000475013.1
3875 chr7 137801444 137801444 1 + C T rs1872930 137801442 + 137801422 137801462 41 CTGAACAGATTTTTCACTCCCACGAGTGCCAAGACGGTGCA CTGAACAGATTTTTCACTCCCATGAGTGCCAAGACGGTGCA < 41bp 0.811424258977022 0.602846081566957 0.44252995 0.50615233 prediction 0.417156354820129 Functional Loss - AKR1D1 ENSG00000122787 UTR3 Human protein_coding chr7:137801442 chr7:137801444 . . 0 23 hm5C_associated_SNPs_91090 1 Benign Congenital Bile Acid Synthesis Defect RCV000364266.1
3875 chr4 76489345 76489345 1 + C T rs2306175 76489342 + 76489322 76489362 41 AGGACAAGAAGAGGTATTTACGCCTCCTGGAGATTCACAAA AGGACAAGAAGAGGTATTTACGCTTCCTGGAGATTCACAAA < 41bp 0.708411931448226 0.498805071222196 0.32370913 0.3245972 prediction 0.416823862896452 Functional Loss - C4orf26 ENSG00000174792 CDS Human protein_coding chr4:76489342 chr4:76489345 nonsynonymous SNV 0.089 0 24 hm5C_associated_SNPs_91225 1 Benign not specified RCV000244739.1
3875 chr11 125479363 125479363 1 + G A rs2241502 125479360 + 125479340 125479380 41 CCCTGGACGGGGCGTTTCTACTCGCTGCTGGATCCCTCTTA CCCTGGACGGGGCGTTTCTACTCACTGCTGGATCCCTCTTA < 41bp 0.815515193036346 0.607137366983511 0.22139698 0.015680552 prediction 0.41675565210567 Functional Loss - STT3A ENSG00000134910 CDS Human protein_coding chr11:125479360 chr11:125479363 synonymous SNV . 0 24 hm5C_associated_SNPs_91250 1 Benign not specified RCV000426935.1
3875 chr5 7893005 7893005 1 + C T rs34172797 7893002 + 7892982 7893022 41 ATACATGCATCCCATGAAGACAGCGGGAAAGCCCTGGCTCC ATACATGCATCCCATGAAGACAGTGGGAAAGCCCTGGCTCC < 41bp 0.717171824868005 0.508807426604392 0.30443713 0.2577386 prediction 0.416728796527227 Functional Loss - MTRR ENSG00000124275 CDS Human protein_coding chr5:7893002 chr5:7893005 synonymous SNV . 0 24 hm5C_associated_SNPs_91266 1 Benign not specified RCV000126877.2
3875 chr14 96001624 96001624 1 + G A rs28680410 96001621 + 96001601 96001641 41 AAGGGGACGCCGGAGCAGCCCCAGTGCGGCTTCAGCAACGC AAGGGGACGCCGGAGCAGCCCCAATGCGGCTTCAGCAACGC < 41bp 0.708275642059794 0.466879018346389 0.23727763 0.20727661 prediction 0.416551284119587 Functional Loss - GLRX5 ENSG00000182512 CDS Human protein_coding chr14:96001621 chr14:96001624 synonymous SNV . 0 24 hm5C_associated_SNPs_91348 1 Benign not specified RCV000428387.1
3875 chr3 45533224 45533224 1 + G A rs2128361 45533221 + 45533201 45533241 41 CCTGTGACCCTGCCCAACATCGCGTCTTTCACTGGCAAGGG CCTGTGACCCTGCCCAACATCGCATCTTTCACTGGCAAGGG < 41bp 0.828690881928626 0.620500426199969 0.2678632 0.14671838 prediction 0.416380911457315 Functional Loss - LARS2 ENSG00000011376 CDS Human protein_coding chr3:45533221 chr3:45533224 synonymous SNV . 0 24 hm5C_associated_SNPs_91433 1 Benign not specified RCV000215318.3
3875 chr10 121429597 121429597 1 + C T OV 121429594 + 121429574 121429614 41 CTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACC CTCAGAGGTCCCAGTCACCTCTGTGGGGCATGCCAGAAACC < 41bp 0.753865056568417 0.545694973667728 0.21330357 0.1051622 prediction 0.416340165801379 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429594 chr10:121429597 nonsynonymous SNV 0.164 2 24 hm5C_associated_SNPs_91453 5 Likely benign Dilated Cardiomyopathy, Dominant RCV000312020.1
3875 chr10 121429597 121429597 1 + C T OV 121429594 + 121429574 121429614 41 CTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACC CTCAGAGGTCCCAGTCACCTCTGTGGGGCATGCCAGAAACC < 41bp 0.753865056568417 0.545694973667728 0.21330357 0.1051622 prediction 0.416340165801379 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429594 chr10:121429597 nonsynonymous SNV 0.164 2 24 hm5C_associated_SNPs_91453 5 Likely benign Myofibrillar Myopathy, Dominant RCV000399357.1
3875 chr10 121429597 121429597 1 + C T OV 121429594 + 121429574 121429614 41 CTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACC CTCAGAGGTCCCAGTCACCTCTGTGGGGCATGCCAGAAACC < 41bp 0.753865056568417 0.545694973667728 0.21330357 0.1051622 prediction 0.416340165801379 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429594 chr10:121429597 nonsynonymous SNV 0.164 2 24 hm5C_associated_SNPs_91453 5 Uncertain significance not specified RCV000426283.1
3875 chr10 121429597 121429597 1 + C T OV 121429594 + 121429574 121429614 41 CTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACC CTCAGAGGTCCCAGTCACCTCTGTGGGGCATGCCAGAAACC < 41bp 0.753865056568417 0.545694973667728 0.21330357 0.1051622 prediction 0.416340165801379 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429594 chr10:121429597 nonsynonymous SNV 0.164 2 24 hm5C_associated_SNPs_91453 5 Uncertain significance Dilated cardiomyopathy 1HH RCV000465666.1
3875 chr10 121429597 121429597 1 + C T OV 121429594 + 121429574 121429614 41 CTCAGAGGTCCCAGTCACCTCTGCGGGGCATGCCAGAAACC CTCAGAGGTCCCAGTCACCTCTGTGGGGCATGCCAGAAACC < 41bp 0.753865056568417 0.545694973667728 0.21330357 0.1051622 prediction 0.416340165801379 Functional Loss - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429594 chr10:121429597 nonsynonymous SNV 0.164 2 24 hm5C_associated_SNPs_91453 5 Uncertain significance Myofibrillar myopathy, BAG3-related RCV000465666.1
3875 chr6 43585986 43585986 1 + G A rs568140214 43585983 + 43585963 43586003 41 GCTCACTGCAACCTCCGTCTCTCGGGTTCAAGCAATTCTCC GCTCACTGCAACCTCCGTCTCTCAGGTTCAAGCAATTCTCC < 41bp 0.763446659941709 0.555281429162815 0.096514374 0.07884702 prediction 0.416330461557789 Functional Loss - POLH ENSG00000170734;ENSG00000172432 intronic Human other chr6:43585983 chr6:43585986 . . 0 24 hm5C_associated_SNPs_91458 1 Uncertain significance Xeroderma pigmentosum RCV000270570.1
3875 chr16 55539754 55539754 1 + G A rs17860021 55539751 + 55539731 55539771 41 TCTCAAGAGGGCACTGGTGGCCCGACAGCCTGGCACAGGGC TCTCAAGAGGGCACTGGTGGCCCAACAGCCTGGCACAGGGC < 41bp 0.800818150542871 0.592675566007864 0.08150351 0.51081777 prediction 0.416285169070015 Functional Loss - MMP2 ENSG00000087245 UTR3 Human protein_coding chr16:55539751 chr16:55539754 . . 0 24 hm5C_associated_SNPs_91469 1 Uncertain significance Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000381045.1
3875 chr16 30081257 30081257 1 + C T UCEC 30081254 + 30081234 30081274 41 CCCTGGGCCCTGACCTTCTCCTACGGCCGAGCCCTGCAGGC CCCTGGGCCCTGACCTTCTCCTATGGCCGAGCCCTGCAGGC < 41bp 0.73844916166648 0.530398607874023 0.07153946 0.090884745 prediction 0.416101107584913 Functional Loss - ALDOA ENSG00000149925 CDS Human protein_coding chr16:30081254 chr16:30081257 synonymous SNV . 0 24 hm5C_associated_SNPs_91557 1 Uncertain significance HNSHA due to aldolase A deficiency RCV000347885.1
3875 chr17 57184162 57184162 1 + A C rs7503190 57184161 + 57184141 57184181 41 ATGGAACTGACGGTGGAGTTCAGCGAAGAAGGTGCCGCAGA ATGGAACTGACGGTGGAGTTCCGCGAAGAAGGTGCCGCAGA < 41bp 0.801206903708432 0.593177790686747 0.50788474 0.33023095 prediction 0.416058226043371 Functional Loss - TRIM37 ENSG00000224738 ncRNA_exonic Human antisense chr17:57184161 chr17:57184162 . . 0 22 hm5C_associated_SNPs_91570 1 Benign Mulibrey nanism syndrome RCV000276584.1
3875 chr7 33944686 33944686 1 + G A rs112890951 33944683 + 33944663 33944703 41 CAGCGGGTTCCGGGAGGCGCCCGGTGAGCCCACGTCTGTTG CAGCGGGTTCCGGGAGGCGCCCGATGAGCCCACGTCTGTTG < 41bp 0.723209171789533 0.515252246467825 0.8507892 0.4950192 prediction 0.415913850643415 Functional Loss - BMPER ENSG00000164619 UTR5 Human protein_coding chr7:33944683 chr7:33944686 . . 0 24 hm5C_associated_SNPs_91623 1 Likely benign Diaphanospondylodysostosis RCV000296299.1
3875 chr19 7589875 7589875 1 + C T SKCM 7589873 + 7589853 7589893 41 AGCGGCTTCTGACCCCCAACCCCGGGTATGGGACCCAGGCG AGCGGCTTCTGACCCCCAACCCTGGGTATGGGACCCAGGCG < 41bp 0.707835351476814 0.477706485385644 0.77409786 0.47256386 prediction 0.415670702953629 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7589873 chr19:7589875 synonymous SNV . 0 23 hm5C_associated_SNPs_91715 1 Uncertain significance Ganglioside sialidase deficiency RCV000291014.1
3875 chr5 118860938 118860938 1 + T C rs11539471 118860937 + 118860917 118860957 41 TTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGA TTGTACCGCCTCAGTGGAGACCGGAATCCCTTACACATTGA < 41bp 0.835815061281317 0.627988980896977 0.24996719 0.4870756 prediction 0.41565216076868 Functional Loss - HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118860937 chr5:118860938 nonsynonymous SNV 1.000 1 22 hm5C_associated_SNPs_91728 3 Benign not specified RCV000214252.2
3875 chr5 118860938 118860938 1 + T C rs11539471 118860937 + 118860917 118860957 41 TTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGA TTGTACCGCCTCAGTGGAGACCGGAATCCCTTACACATTGA < 41bp 0.835815061281317 0.627988980896977 0.24996719 0.4870756 prediction 0.41565216076868 Functional Loss - HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118860937 chr5:118860938 nonsynonymous SNV 1.000 1 22 hm5C_associated_SNPs_91728 3 Benign Perrault Syndrome RCV000263505.1
3875 chr5 118860938 118860938 1 + T C rs11539471 118860937 + 118860917 118860957 41 TTGTACCGCCTCAGTGGAGACTGGAATCCCTTACACATTGA TTGTACCGCCTCAGTGGAGACCGGAATCCCTTACACATTGA < 41bp 0.835815061281317 0.627988980896977 0.24996719 0.4870756 prediction 0.41565216076868 Functional Loss - HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118860937 chr5:118860938 nonsynonymous SNV 1.000 1 22 hm5C_associated_SNPs_91728 3 Benign Bifunctional peroxisomal enzyme deficiency RCV000299859.1
3875 chr16 68732177 68732177 1 + C T UCEC 68732174 + 68732154 68732194 41 GACTATGAGGGCAGCGGCTCCGACGCCGCGTCCCTGAGCTC GACTATGAGGGCAGCGGCTCCGATGCCGCGTCCCTGAGCTC < 41bp 0.713232089120913 0.505431328874906 0.13319439 0.09197238 prediction 0.415601520492013 Functional Loss - CDH3 ENSG00000062038 CDS Human protein_coding chr16:68732174 chr16:68732177 synonymous SNV . 0 24 hm5C_associated_SNPs_91751 1 Uncertain significance not specified RCV000392878.1
3875 chr11 108175517 108175517 1 + C T LUSC 108175515 + 108175495 108175535 41 ACACATGTTCAGGGATTTTTCACCAGCTGTCTTCGACACTT ACACATGTTCAGGGATTTTTCATCAGCTGTCTTCGACACTT < 41bp 0.707677792372529 0.442606570202981 0.17390949 0.1191065 prediction 0.415355584745059 Functional Loss - ATM ENSG00000149311 CDS Human protein_coding chr11:108175515 chr11:108175517 nonsynonymous SNV 0.868 2 23 hm5C_associated_SNPs_91862 3 Uncertain significance Ataxia-telangiectasia syndrome RCV000168364.3
3875 chr11 108175517 108175517 1 + C T LUSC 108175515 + 108175495 108175535 41 ACACATGTTCAGGGATTTTTCACCAGCTGTCTTCGACACTT ACACATGTTCAGGGATTTTTCATCAGCTGTCTTCGACACTT < 41bp 0.707677792372529 0.442606570202981 0.17390949 0.1191065 prediction 0.415355584745059 Functional Loss - ATM ENSG00000149311 CDS Human protein_coding chr11:108175515 chr11:108175517 nonsynonymous SNV 0.868 2 23 hm5C_associated_SNPs_91862 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000221360.1
3875 chr11 108175517 108175517 1 + C T LUSC 108175515 + 108175495 108175535 41 ACACATGTTCAGGGATTTTTCACCAGCTGTCTTCGACACTT ACACATGTTCAGGGATTTTTCATCAGCTGTCTTCGACACTT < 41bp 0.707677792372529 0.442606570202981 0.17390949 0.1191065 prediction 0.415355584745059 Functional Loss - ATM ENSG00000149311 CDS Human protein_coding chr11:108175515 chr11:108175517 nonsynonymous SNV 0.868 2 23 hm5C_associated_SNPs_91862 3 Uncertain significance not specified RCV000236794.2
3875 chr19 11144852 11144852 1 + C T rs148495641 11144850 + 11144830 11144870 41 TCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTG TCAACCAGATGATCGCCCGGCATGAGGAGGAGTTTGATCTG < 41bp 0.707670718533531 0.435428599717437 0.35315323 0.41465437 prediction 0.415341437067063 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11144850 chr19:11144852 synonymous SNV . 0 23 hm5C_associated_SNPs_91868 1 Benign Rhabdoid tumor predisposition syndrome 2 RCV000226604.2
3875 chr2 121746839 121746839 1 + G T rs147580961 121746835 + 121746815 121746855 41 AGGATGGTGGCTGCGGACTCCAACGTGGGCCCCTCCGCCCC AGGATGGTGGCTGCGGACTCCAACTTGGGCCCCTCCGCCCC < 41bp 0.709769722407252 0.502152327759591 0.41446912 0.1707736 prediction 0.415234789295323 Functional Loss - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121746835 chr2:121746839 nonsynonymous SNV 0.000 0 25 hm5C_associated_SNPs_91916 2 other not specified RCV000081283.5
3875 chr2 121746839 121746839 1 + G T rs147580961 121746835 + 121746815 121746855 41 AGGATGGTGGCTGCGGACTCCAACGTGGGCCCCTCCGCCCC AGGATGGTGGCTGCGGACTCCAACTTGGGCCCCTCCGCCCC < 41bp 0.709769722407252 0.502152327759591 0.41446912 0.1707736 prediction 0.415234789295323 Functional Loss - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121746835 chr2:121746839 nonsynonymous SNV 0.000 0 25 hm5C_associated_SNPs_91916 2 Likely benign Holoprosencephaly RCV000327704.1
3875 chr1 47882410 47882410 1 + G A rs145081583 47882407 + 47882387 47882427 41 CGCGAGCCGGGCAACCCGGGCAAGGGCAACTACTGGACGCT CGCGAGCCGGGCAACCCGGGCAAAGGCAACTACTGGACGCT < 41bp 0.707564804273586 0.459130868120358 0.91165304 0.86672413 prediction 0.415129608547171 Functional Loss - FOXE3 ENSG00000186790 CDS Human protein_coding chr1:47882407 chr1:47882410 synonymous SNV . 0 24 hm5C_associated_SNPs_91975 1 Benign not specified RCV000253678.2
3875 chr22 50962259 50962259 1 + G A rs131811 50962262 - 50962242 50962282 41 AGACTGTTGGGTCTGACCGGCTCCACCAAACAGGTTGCCCA AGACTGTTGGGTCTGACCGGCTCTACCAAACAGGTTGCCCA < 41bp 0.707515957972872 0.488424253949578 0.8785711 0.829088 prediction 0.415031915945745 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962262 chr22:50962259 synonymous SNV . 0 24 hm5C_associated_SNPs_92028 4 Benign not specified RCV000128015.1
3875 chr22 50962259 50962259 1 + G A rs131811 50962262 - 50962242 50962282 41 AGACTGTTGGGTCTGACCGGCTCCACCAAACAGGTTGCCCA AGACTGTTGGGTCTGACCGGCTCTACCAAACAGGTTGCCCA < 41bp 0.707515957972872 0.488424253949578 0.8785711 0.829088 prediction 0.415031915945745 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962262 chr22:50962259 synonymous SNV . 0 24 hm5C_associated_SNPs_92028 4 Likely benign Mitochondrial DNA depletion syndrome 1 (MNGIE type) RCV000324968.1
3875 chr22 50962259 50962259 1 + G A rs131811 50962262 - 50962242 50962282 41 AGACTGTTGGGTCTGACCGGCTCCACCAAACAGGTTGCCCA AGACTGTTGGGTCTGACCGGCTCTACCAAACAGGTTGCCCA < 41bp 0.707515957972872 0.488424253949578 0.8785711 0.829088 prediction 0.415031915945745 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962262 chr22:50962259 synonymous SNV . 0 24 hm5C_associated_SNPs_92028 4 Likely benign Cytochrome-c oxidase deficiency RCV000336884.1
3875 chr22 50962259 50962259 1 + G A rs131811 50962262 - 50962242 50962282 41 AGACTGTTGGGTCTGACCGGCTCCACCAAACAGGTTGCCCA AGACTGTTGGGTCTGACCGGCTCTACCAAACAGGTTGCCCA < 41bp 0.707515957972872 0.488424253949578 0.8785711 0.829088 prediction 0.415031915945745 Functional Loss - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962262 chr22:50962259 synonymous SNV . 0 24 hm5C_associated_SNPs_92028 4 Likely benign Fatal Infantile Cardioencephalomyopathy RCV000406575.1
3875 chr6 132215489 132215489 1 + G A rs59958908 132215486 + 132215466 132215506 41 CCCAGGCTAGACTGCAGTGGCATGATCTCGGCTCACTGCAA CCCAGGCTAGACTGCAGTGGCATAATCTCGGCTCACTGCAA < 41bp 0.715179920358116 0.507723656200336 0.80978584 0.75285685 prediction 0.414912528315559 Functional Loss - ENPP1 ENSG00000197594 UTR3 Human protein_coding chr6:132215486 chr6:132215489 . . 0 24 hm5C_associated_SNPs_92078 2 Likely benign Arterial calcification of infancy RCV000320839.1
3875 chr6 132215489 132215489 1 + G A rs59958908 132215486 + 132215466 132215506 41 CCCAGGCTAGACTGCAGTGGCATGATCTCGGCTCACTGCAA CCCAGGCTAGACTGCAGTGGCATAATCTCGGCTCACTGCAA < 41bp 0.715179920358116 0.507723656200336 0.80978584 0.75285685 prediction 0.414912528315559 Functional Loss - ENPP1 ENSG00000197594 UTR3 Human protein_coding chr6:132215486 chr6:132215489 . . 0 24 hm5C_associated_SNPs_92078 2 Likely benign Hypophosphatemic Rickets, Recessive RCV000375721.1
3875 chr11 121028666 121028666 1 + C T rs33981325 121028663 + 121028643 121028683 41 GACGAGGAGTGTGCGCTGCGCAACGGGGTGCGCGGCTGCTT GACGAGGAGTGTGCGCTGCGCAATGGGGTGCGCGGCTGCTT < 41bp 0.712381120658707 0.505023662347508 0.15324193 0.20816022 prediction 0.414714916622398 Functional Loss - TECTA ENSG00000109927 CDS Human protein_coding chr11:121028663 chr11:121028666 synonymous SNV . 0 24 hm5C_associated_SNPs_92166 3 Benign not specified RCV000038496.3
3875 chr11 121028666 121028666 1 + C T rs33981325 121028663 + 121028643 121028683 41 GACGAGGAGTGTGCGCTGCGCAACGGGGTGCGCGGCTGCTT GACGAGGAGTGTGCGCTGCGCAATGGGGTGCGCGGCTGCTT < 41bp 0.712381120658707 0.505023662347508 0.15324193 0.20816022 prediction 0.414714916622398 Functional Loss - TECTA ENSG00000109927 CDS Human protein_coding chr11:121028663 chr11:121028666 synonymous SNV . 0 24 hm5C_associated_SNPs_92166 3 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000275594.1
3875 chr11 121028666 121028666 1 + C T rs33981325 121028663 + 121028643 121028683 41 GACGAGGAGTGTGCGCTGCGCAACGGGGTGCGCGGCTGCTT GACGAGGAGTGTGCGCTGCGCAATGGGGTGCGCGGCTGCTT < 41bp 0.712381120658707 0.505023662347508 0.15324193 0.20816022 prediction 0.414714916622398 Functional Loss - TECTA ENSG00000109927 CDS Human protein_coding chr11:121028663 chr11:121028666 synonymous SNV . 0 24 hm5C_associated_SNPs_92166 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000330622.1
3875 chr17 45363729 45363729 1 + C T UCEC 45363727 + 45363707 45363747 41 AGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAG AGTGAAGAAGCAGAGTGTGTCATGGAACCGAGATGCCCCAG < 41bp 0.859113502300352 0.651971756284554 0.8897013 0.78041816 prediction 0.414283492031596 Functional Loss - ITGB3 ENSG00000259207;ENSG00000259753 CDS Human other chr17:45363727 chr17:45363729 nonsynonymous SNV 0.997 5 23 hm5C_associated_SNPs_92324 1 Pathogenic Glanzmann thrombasthenia RCV000014514.23
3875 chr21 47412705 47412705 1 + G A rs35059000 47412702 + 47412682 47412722 41 ACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACC ACCACGGGGGACCCCAGGCACGCAGGGACCAAGAGGAGACC < 41bp 0.824273246028061 0.617136901540012 0.5531143 0.11753142 prediction 0.414272688976098 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47412702 chr21:47412705 nonsynonymous SNV 0.218 4 24 hm5C_associated_SNPs_92331 2 Benign not specified RCV000079747.4
3875 chr21 47412705 47412705 1 + G A rs35059000 47412702 + 47412682 47412722 41 ACCACGGGGGACCCCAGGCACGCGGGGACCAAGAGGAGACC ACCACGGGGGACCCCAGGCACGCAGGGACCAAGAGGAGACC < 41bp 0.824273246028061 0.617136901540012 0.5531143 0.11753142 prediction 0.414272688976098 Functional Loss - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47412702 chr21:47412705 nonsynonymous SNV 0.218 4 24 hm5C_associated_SNPs_92331 2 Likely benign Collagen VI-related myopathy RCV000406696.1
3875 chr2 48027887 48027887 1 + G A COAD 48027884 + 48027864 48027904 41 AGCCTTTGACCATGAAAAGGCTCGAAAGACTGGACTTATTA AGCCTTTGACCATGAAAAGGCTCAAAAGACTGGACTTATTA < 41bp 0.714367490667374 0.507318255514382 0.07338104 0.03665346 prediction 0.414098470305984 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027884 chr2:48027887 nonsynonymous SNV 0.994 2 24 hm5C_associated_SNPs_92418 2 Uncertain significance Lynch syndrome RCV000461564.1
3875 chr2 48027887 48027887 1 + G A COAD 48027884 + 48027864 48027904 41 AGCCTTTGACCATGAAAAGGCTCGAAAGACTGGACTTATTA AGCCTTTGACCATGAAAAGGCTCAAAAGACTGGACTTATTA < 41bp 0.714367490667374 0.507318255514382 0.07338104 0.03665346 prediction 0.414098470305984 Functional Loss - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027884 chr2:48027887 nonsynonymous SNV 0.994 2 24 hm5C_associated_SNPs_92418 2 Uncertain significance not specified RCV000487150.1
3875 chr4 55604712 55604712 1 + G A UCEC 55604709 + 55604689 55604729 41 CCTCCCAGCCTCTGCTTGTGCACGACGATGTCTGAGCAGAA CCTCCCAGCCTCTGCTTGTGCACAACGATGTCTGAGCAGAA < 41bp 0.806382494408539 0.599356121590703 0.034535974 0.019418955 prediction 0.414052745635671 Functional Loss - KIT ENSG00000157404 CDS Human protein_coding chr4:55604709 chr4:55604712 nonsynonymous SNV 0.006 0 24 hm5C_associated_SNPs_92435 1 Uncertain significance Gastrointestinal stromal tumor RCV000460323.1
3875 chr19 1219344 1219344 1 + C T COAD 1219341 + 1219321 1219361 41 ACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGA ACGTATATGGTGATGGAGTACTGTGTGTGTGGCATGCAGGA < 41bp 0.719964335412015 0.512942506172819 0.42722273 0.39637274 prediction 0.414043658478391 Functional Loss - STK11 ENSG00000118046 CDS Human protein_coding chr19:1219341 chr19:1219344 synonymous SNV . 0 24 hm5C_associated_SNPs_92438 3 Likely benign Hereditary cancer-predisposing syndrome RCV000163260.2
3875 chr19 1219344 1219344 1 + C T COAD 1219341 + 1219321 1219361 41 ACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGA ACGTATATGGTGATGGAGTACTGTGTGTGTGGCATGCAGGA < 41bp 0.719964335412015 0.512942506172819 0.42722273 0.39637274 prediction 0.414043658478391 Functional Loss - STK11 ENSG00000118046 CDS Human protein_coding chr19:1219341 chr19:1219344 synonymous SNV . 0 24 hm5C_associated_SNPs_92438 3 Likely benign Peutz-Jeghers syndrome RCV000204600.2
3875 chr19 1219344 1219344 1 + C T COAD 1219341 + 1219321 1219361 41 ACGTATATGGTGATGGAGTACTGCGTGTGTGGCATGCAGGA ACGTATATGGTGATGGAGTACTGTGTGTGTGGCATGCAGGA < 41bp 0.719964335412015 0.512942506172819 0.42722273 0.39637274 prediction 0.414043658478391 Functional Loss - STK11 ENSG00000118046 CDS Human protein_coding chr19:1219341 chr19:1219344 synonymous SNV . 0 24 hm5C_associated_SNPs_92438 3 Likely benign not specified RCV000434058.1
3875 chr11 71821156 71821156 1 + G A LUSC 71821159 - 71821139 71821179 41 GATGAATGACTACAATGAGTCACCGGATGATGGAGAGGTCA GATGAATGACTACAATGAGTCACTGGATGATGGAGAGGTCA < 41bp 0.706949864886293 0.482757917863129 0.05229783 0.01362285 prediction 0.413899729772586 Functional Loss - ANAPC15 ENSG00000110200 CDS Human protein_coding chr11:71821159 chr11:71821156 nonsynonymous SNV 0.997 4 24 hm5C_associated_SNPs_92504 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000272780.1
3875 chr6 80816461 80816461 1 + A C rs376293687 80816457 + 80816437 80816477 41 CTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACT CTGGCTACTCAGGCTCAGGGCGGCCGGGGCTGAGGGGCACT < 41bp 0.920474635374617 0.713603394287611 0.87677944 0.76364136 prediction 0.413742482174014 Functional Loss - BCKDHB ENSG00000083123 CDS Human protein_coding chr6:80816457 chr6:80816461 synonymous SNV . 0 25 hm5C_associated_SNPs_92573 2 Uncertain significance Maple syrup urine disease RCV000269861.1
3875 chr6 80816461 80816461 1 + A C rs376293687 80816457 + 80816437 80816477 41 CTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACT CTGGCTACTCAGGCTCAGGGCGGCCGGGGCTGAGGGGCACT < 41bp 0.920474635374617 0.713603394287611 0.87677944 0.76364136 prediction 0.413742482174014 Functional Loss - BCKDHB ENSG00000083123 CDS Human protein_coding chr6:80816457 chr6:80816461 synonymous SNV . 0 25 hm5C_associated_SNPs_92573 2 Uncertain significance not specified RCV000327459.1
3875 chr22 37334250 37334250 1 + G A rs1801116 37334247 + 37334227 37334267 41 GTCCTGAACCCAGGGGAACGCCCGGCAGATGTGTCCCCAAC GTCCTGAACCCAGGGGAACGCCCAGCAGATGTGTCCCCAAC < 41bp 0.70669628167153 0.452595368768656 0.16868284 0.13617656 prediction 0.413392563343059 Functional Loss - CSF2RB ENSG00000100368 CDS Human protein_coding chr22:37334247 chr22:37334250 synonymous SNV . 0 24 hm5C_associated_SNPs_92756 1 Benign not specified RCV000219900.1
3875 chr17 41061424 41061424 1 + G A SKCM 41061421 + 41061401 41061441 41 TTTTCCTCATCAAGTTGTTGCTGGAGTCCTGTCAGGTATGG TTTTCCTCATCAAGTTGTTGCTGAAGTCCTGTCAGGTATGG < 41bp 0.818094117448929 0.611438769293856 0.161437 0.06863621 prediction 0.413310696310146 Functional Loss - G6PC ENSG00000131482 CDS Human protein_coding chr17:41061421 chr17:41061424 stopgain 0.670 3 24 hm5C_associated_SNPs_92795 1 Pathogenic Glycogen storage disease type 1A RCV000012787.3
3875 chr2 219746977 219746977 1 + C T rs146460077 219746974 + 219746954 219746994 41 TAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGT TAACATTGCCAGGCCTGAGCCGGTGGCAGATGGAGGTGTGT < 41bp 0.706593932958573 0.492412719615481 0.9014913 0.638112 prediction 0.413187865917145 Functional Loss - WNT10A ENSG00000135925 CDS Human protein_coding chr2:219746974 chr2:219746977 nonsynonymous SNV 0.989 4 24 hm5C_associated_SNPs_92855 3 Likely benign Schopf-Schulz-Passarge syndrome RCV000308592.1
3875 chr2 219746977 219746977 1 + C T rs146460077 219746974 + 219746954 219746994 41 TAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGT TAACATTGCCAGGCCTGAGCCGGTGGCAGATGGAGGTGTGT < 41bp 0.706593932958573 0.492412719615481 0.9014913 0.638112 prediction 0.413187865917145 Functional Loss - WNT10A ENSG00000135925 CDS Human protein_coding chr2:219746974 chr2:219746977 nonsynonymous SNV 0.989 4 24 hm5C_associated_SNPs_92855 3 Likely benign Selective tooth agenesis RCV000358786.1
3875 chr2 219746977 219746977 1 + C T rs146460077 219746974 + 219746954 219746994 41 TAACATTGCCAGGCCTGAGCCGGCGGCAGATGGAGGTGTGT TAACATTGCCAGGCCTGAGCCGGTGGCAGATGGAGGTGTGT < 41bp 0.706593932958573 0.492412719615481 0.9014913 0.638112 prediction 0.413187865917145 Functional Loss - WNT10A ENSG00000135925 CDS Human protein_coding chr2:219746974 chr2:219746977 nonsynonymous SNV 0.989 4 24 hm5C_associated_SNPs_92855 3 Likely benign Odontoonychodermal dysplasia RCV000401069.1
3875 chr18 48604705 48604705 1 + G A PAAD 48604702 + 48604682 48604722 41 AGGATGAGTTTTGTGAAAGGCTGGGGACCGGATTACCCAAG AGGATGAGTTTTGTGAAAGGCTGAGGACCGGATTACCCAAG < 41bp 0.768460501159192 0.562134286189329 0.42057693 0.2292167 prediction 0.412652429939725 Functional Loss - SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48604702 chr18:48604705 stopgain 0.998 1 24 hm5C_associated_SNPs_93101 1 Pathogenic Juvenile polyposis syndrome RCV000021741.1
3875 chr14 96001666 96001666 1 + C T rs28611006 96001664 + 96001644 96001684 41 TGGTGCAGATCCTGCGGCTGCACGGCGTCCGCGATTACGCG TGGTGCAGATCCTGCGGCTGCATGGCGTCCGCGATTACGCG < 41bp 0.806556827784248 0.600232878951644 0.43140763 0.47761995 prediction 0.412647897665209 Functional Loss - GLRX5 ENSG00000182512 CDS Human protein_coding chr14:96001664 chr14:96001666 synonymous SNV . 0 23 hm5C_associated_SNPs_93104 1 Benign not specified RCV000438584.1
3875 chr16 8875858 8875858 1 + A C rs1641031 8875854 + 8875834 8875874 41 GGGGACAGGAGGATTCAGCTCAGGAGTAAGGGAAGAGGTCC GGGGACAGGAGGATTCAGCTCAGGCGTAAGGGAAGAGGTCC < 41bp 0.929144715592545 0.722855405504835 0.8876054 0.8848049 prediction 0.41257862017542 Functional Loss - ABAT ENSG00000183044 UTR3 Human protein_coding chr16:8875854 chr16:8875858 . . 0 25 hm5C_associated_SNPs_93138 1 Benign Gamma-aminobutyric acid transaminase deficiency RCV000392956.1
3875 chr5 68805301 68805301 1 + C T GBM 68805298 + 68805278 68805318 41 GGCTATGGTTATGGCTATGGCTACGGAGGCTATACAGACCC GGCTATGGTTATGGCTATGGCTATGGAGGCTATACAGACCC < 41bp 0.760538733874147 0.554298078596647 0.08762917 0.1264022 prediction 0.412481310554999 Functional Loss - OCLN ENSG00000197822 CDS Human protein_coding chr5:68805298 chr5:68805301 synonymous SNV . 0 24 hm5C_associated_SNPs_93185 1 Uncertain significance Band-like calcification with simplified gyration and polymicrogyria RCV000146970.1
3875 chr2 71748019 71748019 1 + T C rs571559303 71748018 + 71747998 71748038 41 AAGCCTTTGTGTGCTGGGGCCTGGGGACGAAGCGCCTGTGA AAGCCTTTGTGTGCTGGGGCCCGGGGACGAAGCGCCTGTGA < 41bp 0.724383250729041 0.518183542593424 0.54750764 0.8051559 prediction 0.412399416271232 Functional Loss - DYSF ENSG00000135636 CDS Human protein_coding chr2:71748018 chr2:71748019 synonymous SNV . 0 22 hm5C_associated_SNPs_93224 1 Benign not specified RCV000153174.4
3875 chr19 54634882 54634882 1 + G A rs116685547 54634879 + 54634859 54634899 41 CCTGAATGACTGCGTGTGTCCAAGGTGGCTTCCCACTGAAG CCTGAATGACTGCGTGTGTCCAAAGTGGCTTCCCACTGAAG < 41bp 0.821093627862378 0.615126507257023 0.90543264 0.69491273 prediction 0.411934241210711 Functional Loss - PRPF31 ENSG00000105618 UTR3 Human protein_coding chr19:54634879 chr19:54634882 . . 0 24 hm5C_associated_SNPs_93408 1 Likely benign Retinitis Pigmentosa, Dominant RCV000318379.1
3875 chr12 2788753 2788753 1 + C T UCEC 2788751 + 2788731 2788771 41 GCGACACTGAGTCGCCATCCCACGAGAAGCTGGTGGACTCC GCGACACTGAGTCGCCATCCCATGAGAAGCTGGTGGACTCC < 41bp 0.712949336206369 0.507392120421911 0.17233095 0.09996116 prediction 0.411114431568917 Functional Loss - CACNA1C ENSG00000151067 CDS Human protein_coding chr12:2788751 chr12:2788753 synonymous SNV . 0 23 hm5C_associated_SNPs_93778 1 Benign not specified RCV000170758.2
3875 chr6 32006886 32006886 1 + G A rs6474 32006883 + 32006863 32006903 41 TCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGT TCCTGCAGACAAGCTGGTGTCTAAGAACTACCCGGACCTGT < 41bp 0.720343452972871 0.514833943527173 0.2856598 0.13335365 prediction 0.411019018891396 Functional Loss - CYP21A2 ENSG00000231852 CDS Human protein_coding chr6:32006883 chr6:32006886 nonsynonymous SNV 0.021 0 24 hm5C_associated_SNPs_93824 2 Benign 21-hydroxylase deficiency RCV000055817.1
3875 chr6 32006886 32006886 1 + G A rs6474 32006883 + 32006863 32006903 41 TCCTGCAGACAAGCTGGTGTCTAGGAACTACCCGGACCTGT TCCTGCAGACAAGCTGGTGTCTAAGAACTACCCGGACCTGT < 41bp 0.720343452972871 0.514833943527173 0.2856598 0.13335365 prediction 0.411019018891396 Functional Loss - CYP21A2 ENSG00000231852 CDS Human protein_coding chr6:32006883 chr6:32006886 nonsynonymous SNV 0.021 0 24 hm5C_associated_SNPs_93824 2 Benign not specified RCV000245772.1
3875 chr9 133325707 133325707 1 + G A rs184403245 133325704 + 133325684 133325724 41 GATTCCAGACGCCGGGAACTCACGCCTCCAATCCCAGGTAC GATTCCAGACGCCGGGAACTCACACCTCCAATCCCAGGTAC < 41bp 0.705402300616054 0.446483722934595 0.04018271 0.009254664 prediction 0.410804601232108 Functional Loss - ASS1 ENSG00000130707 UTR5 Human protein_coding chr9:133325704 chr9:133325707 . . 0 24 hm5C_associated_SNPs_93912 1 Likely benign not specified RCV000417960.1
3875 chr10 104835919 104835919 1 + C T rs943037 104835916 + 104835896 104835936 41 AGTCGAAGCGACCGGATTGACGCCGTCACACCAACACTGGG AGTCGAAGCGACCGGATTGACGCTGTCACACCAACACTGGG < 41bp 0.705216121127449 0.485884731657146 0.22202364 0.09898794 prediction 0.410432242254898 Functional Loss - CNNM2 ENSG00000148842 CDS Human protein_coding chr10:104835916 chr10:104835919 synonymous SNV . 0 24 hm5C_associated_SNPs_94089 1 Benign Renal Hypomagnesemia, Dominant RCV000300348.1
3875 chr1 161293426 161293426 1 + C T LUSC 161293423 + 161293403 161293443 41 GACACGTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCT GACACGTTGGTCGTCATTGCCTCTGAGCCCACTTTAGCCCT < 41bp 0.731776304004894 0.526671600560854 0.8480871 0.3225898 prediction 0.410209406888081 Functional Loss - SDHC ENSG00000143252 CDS Human protein_coding chr1:161293423 chr1:161293426 stopgain 0.989 0 24 hm5C_associated_SNPs_94165 3 Pathogenic Paragangliomas 3 RCV000034695.2
3875 chr1 161293426 161293426 1 + C T LUSC 161293423 + 161293403 161293443 41 GACACGTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCT GACACGTTGGTCGTCATTGCCTCTGAGCCCACTTTAGCCCT < 41bp 0.731776304004894 0.526671600560854 0.8480871 0.3225898 prediction 0.410209406888081 Functional Loss - SDHC ENSG00000143252 CDS Human protein_coding chr1:161293423 chr1:161293426 stopgain 0.989 0 24 hm5C_associated_SNPs_94165 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000128874.4
3875 chr1 161293426 161293426 1 + C T LUSC 161293423 + 161293403 161293443 41 GACACGTTGGTCGTCATTGCCTCCGAGCCCACTTTAGCCCT GACACGTTGGTCGTCATTGCCTCTGAGCCCACTTTAGCCCT < 41bp 0.731776304004894 0.526671600560854 0.8480871 0.3225898 prediction 0.410209406888081 Functional Loss - SDHC ENSG00000143252 CDS Human protein_coding chr1:161293423 chr1:161293426 stopgain 0.989 0 24 hm5C_associated_SNPs_94165 3 Pathogenic not provided RCV000486068.1
3875 chr17 73269332 73269332 1 + C T rs62622012 73269330 + 73269310 73269350 41 GTCGTTGGCTCACCATAGACCACGTCCTGCATTCCCTCTGA GTCGTTGGCTCACCATAGACCATGTCCTGCATTCCCTCTGA < 41bp 0.759911427890678 0.554834548818739 0.11822933 0.071395546 prediction 0.410153758143878 Functional Loss - LOC100287042 ENSG00000125454 CDS Human protein_coding chr17:73269330 chr17:73269332 unknown . 0 23 hm5C_associated_SNPs_94192 1 Uncertain significance Amish lethal microcephaly RCV000380971.1
3875 chr2 71827889 71827889 1 + C T rs146970014 71827887 + 71827867 71827907 41 ACCGAGTCTGGAACGGATGCCACGGCTGGCCTGGTTCCCAC ACCGAGTCTGGAACGGATGCCATGGCTGGCCTGGTTCCCAC < 41bp 0.773112314186132 0.568219094762357 0.21127993 0.24711558 prediction 0.40978643884755 Functional Loss - DYSF ENSG00000135636 CDS Human protein_coding chr2:71827887 chr2:71827889 nonsynonymous SNV 0.850 4 23 hm5C_associated_SNPs_94386 1 Uncertain significance not specified RCV000177777.2
3875 chr12 110019269 110019269 1 + C T STAD 110019266 + 110019246 110019286 41 GGGGCGGGCTTGGGCTCCAGCGCCGCCTACTCGGTGTGTCT GGGGCGGGCTTGGGCTCCAGCGCTGCCTACTCGGTGTGTCT < 41bp 0.738420375068809 0.533568646793998 0.60331964 0.47959477 prediction 0.409703456549622 Functional Loss - MVK ENSG00000110921 CDS Human protein_coding chr12:110019266 chr12:110019269 synonymous SNV . 0 24 hm5C_associated_SNPs_94421 1 other not specified RCV000126897.2
3875 chr1 220267599 220267599 1 + C T rs2577154 220267597 + 220267577 220267617 41 CCTCGCGGGCCGGGCGCGGCCGCCCTGGCCACTGCCCGAAG CCTCGCGGGCCGGGCGCGGCCGTCCTGGCCACTGCCCGAAG < 41bp 0.797897911331895 0.593147807337131 0.71025836 0.44164032 prediction 0.409500207989528 Functional Loss - IARS2 ENSG00000067704 CDS Human protein_coding chr1:220267597 chr1:220267599 nonsynonymous SNV 0.160 0 23 hm5C_associated_SNPs_94500 1 Benign not specified RCV000435089.1
3875 chr19 7593048 7593048 1 + C T rs73003348 7593046 + 7593026 7593066 41 CCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACA CCCAACTGGCCCCCACAGATCATGTTTGACAACAAAGCACA < 41bp 0.704712577277434 0.438355222110965 0.1281519 0.09499693 prediction 0.409425154554868 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7593046 chr19:7593048 nonsynonymous SNV 0.914 1 23 hm5C_associated_SNPs_94541 2 Uncertain significance Ganglioside sialidase deficiency RCV000310578.1
3875 chr19 7593048 7593048 1 + C T rs73003348 7593046 + 7593026 7593066 41 CCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACA CCCAACTGGCCCCCACAGATCATGTTTGACAACAAAGCACA < 41bp 0.704712577277434 0.438355222110965 0.1281519 0.09499693 prediction 0.409425154554868 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7593046 chr19:7593048 nonsynonymous SNV 0.914 1 23 hm5C_associated_SNPs_94541 2 Benign not specified RCV000327699.1
3875 chr19 7593049 7593049 1 + G A BRCA 7593046 + 7593026 7593066 41 CCCAACTGGCCCCCACAGATCACGTTTGACAACAAAGCACA CCCAACTGGCCCCCACAGATCACATTTGACAACAAAGCACA < 41bp 0.704712577277434 0.452289287663741 0.1281519 0.054376334 prediction 0.409425154554868 Functional Loss - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7593046 chr19:7593049 synonymous SNV . 0 24 hm5C_associated_SNPs_94542 1 Uncertain significance not specified RCV000309039.1
3875 chr11 75277886 75277886 1 + C T rs150586616 75277884 + 75277864 75277904 41 AGCACTCCAAGATCAACTTCCGCGACAAGCGCAGCGCGCTG AGCACTCCAAGATCAACTTCCGTGACAAGCGCAGCGCGCTG < 41bp 0.862666227147684 0.657955907159457 0.13266468 0.11342436 prediction 0.409420639976454 Functional Loss - SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75277884 chr11:75277886 synonymous SNV . 0 23 hm5C_associated_SNPs_94543 1 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000306124.1
3875 chr3 183860063 183860063 1 + G A rs138857267 183860060 + 183860040 183860080 41 AATATCACGCTGCCTGAGGGCTCGGTGATCTCTTTGCACCC AATATCACGCTGCCTGAGGGCTCAGTGATCTCTTTGCACCC < 41bp 0.823678378411145 0.61902442623716 0.32205933 0.24133614 prediction 0.409307904347971 Functional Loss - EIF2B5 ENSG00000145191 CDS Human protein_coding chr3:183860060 chr3:183860063 synonymous SNV . 0 24 hm5C_associated_SNPs_94583 1 Likely benign Leukoencephalopathy with vanishing white matter RCV000281968.1
3875 chr10 104390030 104390030 1 + C T rs2298277 104390027 + 104390007 104390047 41 AAGGACAAGTGTGAGGAAGACTGCGCAGTGCCACCCCGCAG AAGGACAAGTGTGAGGAAGACTGTGCAGTGCCACCCCGCAG < 41bp 0.706707031839319 0.502168030288558 0.21890256 0.2127116 prediction 0.409078003101521 Functional Loss - SUFU ENSG00000107882 UTR3 Human protein_coding chr10:104390027 chr10:104390030 . . 0 24 hm5C_associated_SNPs_94689 1 Likely benign Medulloblastoma RCV000351120.1
3875 chr1 154540472 154540472 1 + G C rs551484822 154540468 + 154540448 154540488 41 GCCCCACCCGCGGCCCTCCCCCCGGCGGCGCGCTCCAGCCG GCCCCACCCGCGGCCCTCCCCCCGCCGGCGCGCTCCAGCCG < 41bp 0.748453013503344 0.54402136313841 0.23673022 0.1155093 prediction 0.408863300729868 Functional Loss - CHRNB2 ENSG00000160716 UTR5 Human protein_coding chr1:154540468 chr1:154540472 . . 0 25 hm5C_associated_SNPs_94781 1 Benign not specified RCV000124304.2
3875 chr19 852349 852349 1 + C T UCEC 852347 + 852327 852367 41 CCATGACCCTCGGCCGCCGACTCGCGTGTCTTTTCCTCGCC CCATGACCCTCGGCCGCCGACTTGCGTGTCTTTTCCTCGCC < 41bp 0.704400881249175 0.478498327369067 0.14595449 0.14342406 prediction 0.408801762498349 Functional Loss - ELANE ENSG00000197561 CDS Human protein_coding chr19:852347 chr19:852349 synonymous SNV . 0 23 hm5C_associated_SNPs_94810 1 Likely benign not specified RCV000502498.1
3875 chr12 54677742 54677742 1 + C T CESC 54677740 + 54677720 54677760 41 AGGCCAATACTTTGCAAAACCACGAAACCAAGGTATGGTAT AGGCCAATACTTTGCAAAACCATGAAACCAAGGTATGGTAT < 41bp 0.873415437994506 0.669057662948682 0.106684834 0.12265256 prediction 0.408715550091649 Functional Loss - HNRNPA1 ENSG00000135486 CDS Human protein_coding chr12:54677740 chr12:54677742 stopgain 0.998 0 23 hm5C_associated_SNPs_94855 1 Likely pathogenic Chronic progressive multiple sclerosis RCV000122455.1
3875 chr8 27645464 27645464 1 + A C rs57479434 27645463 + 27645443 27645483 41 TCATGAAACAGACCAATATCCAGAAAAATACTAATACCAGA TCATGAAACAGACCAATATCCCGAAAAATACTAATACCAGA < 41bp 0.704284409289292 0.439530675924214 0.509272 0.11807865 prediction 0.408568818578584 Functional Loss - ESCO2 ENSG00000171320 CDS Human protein_coding chr8:27645463 chr8:27645464 nonsynonymous SNV 0.034 0 22 hm5C_associated_SNPs_94922 1 Uncertain significance Roberts-SC phocomelia syndrome RCV000390321.1
3875 chr19 15651282 15651282 1 + C T rs149616338 15651279 + 15651259 15651299 41 AGGAAGATGAGTGATTATATCTCCGCTATCATTGAACTGAG AGGAAGATGAGTGATTATATCTCTGCTATCATTGAACTGAG < 41bp 0.704261717721814 0.48345376613662 0.24580804 0.31305957 prediction 0.408523435443628 Functional Loss - CYP4F22 ENSG00000171954 CDS Human protein_coding chr19:15651279 chr19:15651282 synonymous SNV . 0 24 hm5C_associated_SNPs_94950 1 Uncertain significance Congenital ichthyosiform erythroderma RCV000358316.1
3875 chr4 15556832 15556832 1 + C T COAD 15556830 + 15556810 15556850 41 GCCCCTTTGATGCAGCTTATCTCGGTATGTAGCAGGAGGCA GCCCCTTTGATGCAGCTTATCTTGGTATGTAGCAGGAGGCA < 41bp 0.704253995794125 0.424202743840106 0.09934902 0.049994767 prediction 0.40850799158825 Functional Loss - CC2D2A ENSG00000048342 CDS Human protein_coding chr4:15556830 chr4:15556832 nonsynonymous SNV 0.994 0 23 hm5C_associated_SNPs_94960 1 Uncertain significance not specified RCV000494146.1
3875 chr16 50756540 50756540 1 + G C rs2066845 50756536 + 50756516 50756556 41 TCTTTTGGCCTTTTCAGATTCTGGGGCAACAGAGTGGGTGA TCTTTTGGCCTTTTCAGATTCTGGCGCAACAGAGTGGGTGA < 41bp 0.876260082252273 0.672149853556098 0.9017616 0.5627723 prediction 0.40822045739235 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50756536 chr16:50756540 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_95092 5 other INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO RCV000004956.4
3875 chr16 50756540 50756540 1 + G C rs2066845 50756536 + 50756516 50756556 41 TCTTTTGGCCTTTTCAGATTCTGGGGCAACAGAGTGGGTGA TCTTTTGGCCTTTTCAGATTCTGGCGCAACAGAGTGGGTGA < 41bp 0.876260082252273 0.672149853556098 0.9017616 0.5627723 prediction 0.40822045739235 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50756536 chr16:50756540 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_95092 5 Uncertain significance not specified RCV000238745.1
3875 chr16 50756540 50756540 1 + G C rs2066845 50756536 + 50756516 50756556 41 TCTTTTGGCCTTTTCAGATTCTGGGGCAACAGAGTGGGTGA TCTTTTGGCCTTTTCAGATTCTGGCGCAACAGAGTGGGTGA < 41bp 0.876260082252273 0.672149853556098 0.9017616 0.5627723 prediction 0.40822045739235 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50756536 chr16:50756540 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_95092 5 Likely benign Blau syndrome RCV000268347.1
3875 chr16 50756540 50756540 1 + G C rs2066845 50756536 + 50756516 50756556 41 TCTTTTGGCCTTTTCAGATTCTGGGGCAACAGAGTGGGTGA TCTTTTGGCCTTTTCAGATTCTGGCGCAACAGAGTGGGTGA < 41bp 0.876260082252273 0.672149853556098 0.9017616 0.5627723 prediction 0.40822045739235 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50756536 chr16:50756540 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_95092 5 Likely benign Crohn disease RCV000363061.1
3875 chr16 50756540 50756540 1 + G C rs2066845 50756536 + 50756516 50756556 41 TCTTTTGGCCTTTTCAGATTCTGGGGCAACAGAGTGGGTGA TCTTTTGGCCTTTTCAGATTCTGGCGCAACAGAGTGGGTGA < 41bp 0.876260082252273 0.672149853556098 0.9017616 0.5627723 prediction 0.40822045739235 Functional Loss - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50756536 chr16:50756540 nonsynonymous SNV 1.000 4 25 hm5C_associated_SNPs_95092 5 other YAO SYNDROME, SUSCEPTIBILITY TO RCV000416490.1
3875 chr9 136440203 136440203 1 + G T rs111717891 136440199 + 136440179 136440219 41 ACCCAGTGGCCTCCCCCAGACAGAGCCACCCCTGCCGTGGG ACCCAGTGGCCTCCCCCAGACAGATCCACCCCTGCCGTGGG < 41bp 0.737875151247668 0.533923593312307 0.5207799 0.21172985 prediction 0.407903115870722 Functional Loss - ADAMTSL2 ENSG00000197859 UTR3 Human protein_coding chr9:136440199 chr9:136440203 . . 0 25 hm5C_associated_SNPs_95252 1 Likely benign Geleophysic dysplasia RCV000285050.1
3875 chr22 32215155 32215155 1 + G A CESC 32215152 + 32215132 32215172 41 GATTAACCCCTTCGCTCCCTCTCGGATGCCCATGAAGCTTA GATTAACCCCTTCGCTCCCTCTCAGATGCCCATGAAGCTTA < 41bp 0.787870444344681 0.583989874367197 0.13337332 0.06031525 prediction 0.407761139954967 Functional Loss - DEPDC5 ENSG00000100150 CDS Human protein_coding chr22:32215152 chr22:32215155 nonsynonymous SNV 0.800 3 24 hm5C_associated_SNPs_95328 1 Uncertain significance Epilepsy, familial focal, with variable foci 1 RCV000469812.1
3875 chrX 136649012 136649012 1 + T C rs62637689 136649011 + 136648991 136649031 41 CGCCGCCGCCGCCGCCGCCGCTGCCTTCAAGCTGAGCCCTG CGCCGCCGCCGCCGCCGCCGCCGCCTTCAAGCTGAGCCCTG < 41bp 0.703854553773892 0.481447197251707 0.15265492 0.22056767 prediction 0.407709107547784 Functional Loss - ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649011 chrX:136649012 synonymous SNV . 0 22 hm5C_associated_SNPs_95365 2 Benign not specified RCV000126381.2
3875 chrX 136649012 136649012 1 + T C rs62637689 136649011 + 136648991 136649031 41 CGCCGCCGCCGCCGCCGCCGCTGCCTTCAAGCTGAGCCCTG CGCCGCCGCCGCCGCCGCCGCCGCCTTCAAGCTGAGCCCTG < 41bp 0.703854553773892 0.481447197251707 0.15265492 0.22056767 prediction 0.407709107547784 Functional Loss - ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649011 chrX:136649012 synonymous SNV . 0 22 hm5C_associated_SNPs_95365 2 Benign Heterotaxy, visceral, X-linked RCV000476035.1
3875 chr17 42428095 42428095 1 + G A ESCA 42428092 + 42428072 42428112 41 CTCGGTCATGTGTCCGGACGCACGGTCCCGGTGCCCTGATG CTCGGTCATGTGTCCGGACGCACAGTCCCGGTGCCCTGATG < 41bp 0.840338145744057 0.636622960973319 0.29312915 0.14058033 prediction 0.407430369541477 Functional Loss - GRN ENSG00000030582 CDS Human protein_coding chr17:42428092 chr17:42428095 nonsynonymous SNV 0.126 0 24 hm5C_associated_SNPs_95502 1 not provided not provided RCV000084448.1
3875 chr12 121432117 121432117 1 + G C rs56348580 121432114 + 121432094 121432134 41 CTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGG CTGGCCATGGACACGTACAGCGGCCCCCCCCCAGGGCCAGG < 41bp 0.733523079849932 0.529839376426189 0.6822932 0.38602635 prediction 0.407367406847486 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121432114 chr12:121432117 nonsynonymous SNV . 0 24 hm5C_associated_SNPs_95533 2 Benign not specified RCV000117234.4
3875 chr12 121432117 121432117 1 + G C rs56348580 121432114 + 121432094 121432134 41 CTGGCCATGGACACGTACAGCGGGCCCCCCCCAGGGCCAGG CTGGCCATGGACACGTACAGCGGCCCCCCCCCAGGGCCAGG < 41bp 0.733523079849932 0.529839376426189 0.6822932 0.38602635 prediction 0.407367406847486 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121432114 chr12:121432117 nonsynonymous SNV . 0 24 hm5C_associated_SNPs_95533 2 Benign Maturity-onset diabetes of the young RCV000331151.1
3875 chr3 10183797 10183797 1 + T C KIRC 10183796 + 10183776 10183816 41 GCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCG GCGTCGTGCTGCCCGTATGGCCCAACTTCGACGGCGAGCCG < 41bp 0.805746337136419 0.602079020672464 0.105397075 0.042181045 prediction 0.40733463292791 Functional Loss - VHL ENSG00000134086 CDS Human protein_coding chr3:10183796 chr3:10183797 nonsynonymous SNV 0.991 5 22 hm5C_associated_SNPs_95550 2 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000161087.2
3875 chr3 10183797 10183797 1 + T C KIRC 10183796 + 10183776 10183816 41 GCGTCGTGCTGCCCGTATGGCTCAACTTCGACGGCGAGCCG GCGTCGTGCTGCCCGTATGGCCCAACTTCGACGGCGAGCCG < 41bp 0.805746337136419 0.602079020672464 0.105397075 0.042181045 prediction 0.40733463292791 Functional Loss - VHL ENSG00000134086 CDS Human protein_coding chr3:10183796 chr3:10183797 nonsynonymous SNV 0.991 5 22 hm5C_associated_SNPs_95550 2 Pathogenic Von Hippel-Lindau syndrome RCV000208869.1
3875 chr1 93297630 93297630 1 + A C rs145634330 93297626 + 93297606 93297646 41 ACCCCCTAGCGCCGCTGGGCCTGCAGGTCTCTGTCGAGCAG ACCCCCTAGCGCCGCTGGGCCTGCCGGTCTCTGTCGAGCAG < 41bp 0.925490214249384 0.721840692717065 0.07659629 0.05232054 prediction 0.407299043064639 Functional Loss - RPL5 ENSG00000122406 UTR5 Human protein_coding chr1:93297626 chr1:93297630 . . 0 25 hm5C_associated_SNPs_95563 1 Likely benign Diamond-Blackfan anemia RCV000294405.1
3875 chr15 72105936 72105936 1 + G A ESCA 72105933 + 72105913 72105953 41 GGGCATTGGCGGTGGACCCCCACGGAGTTTGCCTGCATGAA GGGCATTGGCGGTGGACCCCCACAGAGTTTGCCTGCATGAA < 41bp 0.703627850806477 0.474301508738874 0.63991725 0.38470262 prediction 0.407255701612953 Functional Loss - NR2E3 ENSG00000031544 ncRNA_exonic Human other chr15:72105933 chr15:72105936 . . 0 24 hm5C_associated_SNPs_95578 1 Likely benign not specified RCV000245595.1
3875 chr9 137734294 137734294 1 + G A rs181323324 137734291 + 137734271 137734311 41 CTTCATCTACGCCTCGGCACCACGGGGTGTGGGACCCCAGC CTTCATCTACGCCTCGGCACCACAGGGTGTGGGACCCCAGC < 41bp 0.703578424316272 0.476549362518266 0.48351046 0.38255882 prediction 0.407156848632544 Functional Loss - LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137734291 chr9:137734294 . . 0 24 hm5C_associated_SNPs_95628 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000361921.1
3875 chr2 219747052 219747052 1 + G A UCEC 219747049 + 219747029 219747069 41 AGGGCATCCAGATCGCCATCCACGAATGCCAACACCAATTC AGGGCATCCAGATCGCCATCCACAAATGCCAACACCAATTC < 41bp 0.821976962908981 0.618406347218227 0.12121549 0.040864646 prediction 0.407141231381507 Functional Loss - WNT10A ENSG00000135925 CDS Human protein_coding chr2:219747049 chr2:219747052 nonsynonymous SNV 0.998 4 24 hm5C_associated_SNPs_95639 1 not provided not provided RCV000059802.1
3875 chr20 45355616 45355616 1 + G A GBM 45355613 + 45355593 45355633 41 TCTTCATCAGCCTCTCCTTCCTCGATCTCATTGGTGAGTCC TCTTCATCAGCCTCTCCTTCCTCAATCTCATTGGTGAGTCC < 41bp 0.81900945161471 0.615440352169991 0.706805 0.4855345 prediction 0.407138198889438 Functional Loss - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45355613 chr20:45355616 nonsynonymous SNV 0.925 1 24 hm5C_associated_SNPs_95644 1 Uncertain significance not specified RCV000195424.2
3875 chr10 43609956 43609956 1 + G A BRCA 43609953 + 43609933 43609973 41 CTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGT CTGTGCGACGAGCTGTGCCGCACAGTGATCGCAGCCGCTGT < 41bp 0.703503822603517 0.449129424903501 0.0909158 0.05562046 prediction 0.407007645207034 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609953 chr10:43609956 synonymous SNV . 0 24 hm5C_associated_SNPs_95715 1 Likely benign not specified RCV000252880.1
3875 chr10 43609955 43609955 1 + C T OV 43609953 + 43609933 43609973 41 CTGTGCGACGAGCTGTGCCGCACGGTGATCGCAGCCGCTGT CTGTGCGACGAGCTGTGCCGCATGGTGATCGCAGCCGCTGT < 41bp 0.703503822603517 0.44305815528703 0.0909158 0.05141923 prediction 0.407007645207034 Functional Loss - RET ENSG00000165731 CDS Human protein_coding chr10:43609953 chr10:43609955 nonsynonymous SNV 0.628 1 23 hm5C_associated_SNPs_95716 1 Uncertain significance Multiple endocrine neoplasia, type 2 RCV000463920.1
3875 chr1 170521376 170521376 1 + G A rs913257 170521373 + 170521353 170521393 41 TGGAGGTCGAGAGATTGCTACACGAACAAGAAGTAGAATCA TGGAGGTCGAGAGATTGCTACACAAACAAGAAGTAGAATCA < 41bp 0.792494891532566 0.5890843005193 0.8775055 0.33882204 prediction 0.406821182026531 Functional Loss - GORAB ENSG00000120370 CDS Human protein_coding chr1:170521373 chr1:170521376 nonsynonymous SNV 0.171 1 24 hm5C_associated_SNPs_95814 2 Benign not specified RCV000246642.1
3875 chr1 170521376 170521376 1 + G A rs913257 170521373 + 170521353 170521393 41 TGGAGGTCGAGAGATTGCTACACGAACAAGAAGTAGAATCA TGGAGGTCGAGAGATTGCTACACAAACAAGAAGTAGAATCA < 41bp 0.792494891532566 0.5890843005193 0.8775055 0.33882204 prediction 0.406821182026531 Functional Loss - GORAB ENSG00000120370 CDS Human protein_coding chr1:170521373 chr1:170521376 nonsynonymous SNV 0.171 1 24 hm5C_associated_SNPs_95814 2 Benign Geroderma osteodysplastica RCV000282843.1
3875 chr1 236646366 236646366 1 + G A rs189781826 236646363 + 236646343 236646383 41 CTCCTGATCAGTGCCATTCCCACGGTTTCAAAGAAAACAGC CTCCTGATCAGTGCCATTCCCACAGTTTCAAAGAAAACAGC < 41bp 0.703404063577353 0.463408389875312 0.28948036 0.14802852 prediction 0.406808127154705 Functional Loss - EDARADD ENSG00000186197 UTR3 Human protein_coding chr1:236646363 chr1:236646366 . . 0 24 hm5C_associated_SNPs_95818 1 Uncertain significance Hypohidrotic Ectodermal Dysplasia, Recessive RCV000356260.1
3875 chr17 4837131 4837131 1 + C T rs139921368 4837128 + 4837108 4837148 41 GCCCACTCCAAGCCCGACCACCCCAGAGCCCACCTCAGAGC GCCCACTCCAAGCCCGACCACCCTAGAGCCCACCTCAGAGC < 41bp 0.73732605812857 0.533973588246631 0.15414834 0.05316502 prediction 0.406704939763878 Functional Loss - GP1BA ENSG00000185245 CDS Human protein_coding chr17:4837128 chr17:4837131 nonsynonymous SNV 0.002 2 24 hm5C_associated_SNPs_95880 1 Likely benign not specified RCV000246363.1
3875 chr13 31848657 31848657 1 + C T rs35019745 31848654 + 31848634 31848674 41 GTCTCGTGGCAGATTGCCCTCTACATCTGGGACAAAGGCGG GTCTCGTGGCAGATTGCCCTCTATATCTGGGACAAAGGCGG < 41bp 0.780941037200014 0.577698761759029 0.30846846 0.21084166 prediction 0.406484550881971 Functional Loss - B3GLCT ENSG00000187676 CDS Human protein_coding chr13:31848654 chr13:31848657 synonymous SNV . 0 24 hm5C_associated_SNPs_95989 1 Benign not specified RCV000082790.4
3875 chr3 8787241 8787241 1 + T C rs149287333 8787240 + 8787220 8787260 41 TGAAGACGTGATCGCAGAGCCTGTGGGCACCTACAGCTTTG TGAAGACGTGATCGCAGAGCCCGTGGGCACCTACAGCTTTG < 41bp 0.755176644621049 0.551944018359505 0.020768106 0.09155661 prediction 0.406465252523087 Functional Loss - CAV3 ENSG00000182533 CDS Human protein_coding chr3:8787240 chr3:8787241 synonymous SNV . 0 22 hm5C_associated_SNPs_95997 1 Likely benign not specified RCV000039798.2
3875 chr17 79495890 79495890 1 + C T rs117946784 79495887 + 79495867 79495907 41 TCCGAGCCGCACGGCCGCTTCTTCGGAGGCACCGAGGACCA TCCGAGCCGCACGGCCGCTTCTTTGGAGGCACCGAGGACCA < 41bp 0.723662918438 0.520551446591238 0.09051925 0.07140392 prediction 0.406222943693525 Functional Loss - FSCN2 ENSG00000186765 CDS Human protein_coding chr17:79495887 chr17:79495890 synonymous SNV . 0 24 hm5C_associated_SNPs_96113 1 Benign not specified RCV000153278.3
3875 chrX 10181808 10181808 1 + C T COAD 10181805 + 10181785 10181825 41 GTACATCGTGCCCCTGATGGCGGCGGCTGTGACCAGCAAGT GTACATCGTGCCCCTGATGGCGGTGGCTGTGACCAGCAAGT < 41bp 0.742831120012956 0.539820346206251 0.7854401 0.3879181 prediction 0.40602154761341 Functional Loss - CLCN4 ENSG00000073464 CDS Human protein_coding chrX:10181805 chrX:10181808 nonsynonymous SNV 0.023 3 24 hm5C_associated_SNPs_96221 2 Pathogenic CLCN4-related disorder RCV000239763.1
3875 chrX 10181808 10181808 1 + C T COAD 10181805 + 10181785 10181825 41 GTACATCGTGCCCCTGATGGCGGCGGCTGTGACCAGCAAGT GTACATCGTGCCCCTGATGGCGGTGGCTGTGACCAGCAAGT < 41bp 0.742831120012956 0.539820346206251 0.7854401 0.3879181 prediction 0.40602154761341 Functional Loss - CLCN4 ENSG00000073464 CDS Human protein_coding chrX:10181805 chrX:10181808 nonsynonymous SNV 0.023 3 24 hm5C_associated_SNPs_96221 2 Pathogenic not provided RCV000413507.2
3875 chr17 78086452 78086452 1 + C T LUAD 78086449 + 78086429 78086469 41 TTTGCTGGCCACGGCCGATACGCCGGCCACTGGACGGGGGA TTTGCTGGCCACGGCCGATACGCTGGCCACTGGACGGGGGA < 41bp 0.757080942886682 0.554203631118112 0.09996694 0.09417266 prediction 0.405754623537139 Functional Loss - GAA ENSG00000171298 CDS Human protein_coding chr17:78086449 chr17:78086452 synonymous SNV . 0 24 hm5C_associated_SNPs_96353 1 other not specified RCV000246872.3
3875 chr9 133759820 133759820 1 + C T UCEC 133759817 + 133759797 133759837 41 GCAGCTCCAGCAAGCGCTTCCTGCGCTCTTGCTCCGCCTCC GCAGCTCCAGCAAGCGCTTCCTGTGCTCTTGCTCCGCCTCC < 41bp 0.702846003789972 0.488297444509151 0.085849404 0.08599433 prediction 0.405692007579944 Functional Loss - ABL1 ENSG00000097007 CDS Human protein_coding chr9:133759817 chr9:133759820 nonsynonymous SNV 0.937 4 24 hm5C_associated_SNPs_96384 1 not provided not specified RCV000119941.1
3875 chr7 33169236 33169236 1 + G C rs184271281 33169232 + 33169212 33169252 41 GAGGGGAGGTGTCCCTTCCGCTGCGGCCGTCGGGTTTCTGC GAGGGGAGGTGTCCCTTCCGCTGCCGCCGTCGGGTTTCTGC < 41bp 0.702754404797153 0.422426317561609 0.17940274 0.16175392 prediction 0.405508809594306 Functional Loss - BBS9 ENSG00000122507 UTR5 Human protein_coding chr7:33169232 chr7:33169236 . . 0 25 hm5C_associated_SNPs_96467 1 Uncertain significance Bardet-Biedl syndrome RCV000340345.1
3875 chr6 137143748 137143748 1 + C T rs73777751 137143746 + 137143726 137143766 41 CTCTAACCGCGCCAGTGTGCCTCCGACTCGGAACGGCTTCC CTCTAACCGCGCCAGTGTGCCTTCGACTCGGAACGGCTTCC < 41bp 0.797699064936678 0.594945822255067 0.21557683 0.23704761 prediction 0.405506485363222 Functional Loss - PEX7 ENSG00000112357 UTR5 Human protein_coding chr6:137143746 chr6:137143748 . . 0 23 hm5C_associated_SNPs_96470 2 Benign Rhizomelic chondrodysplasia punctata RCV000300626.1
3875 chr6 137143748 137143748 1 + C T rs73777751 137143746 + 137143726 137143766 41 CTCTAACCGCGCCAGTGTGCCTCCGACTCGGAACGGCTTCC CTCTAACCGCGCCAGTGTGCCTTCGACTCGGAACGGCTTCC < 41bp 0.797699064936678 0.594945822255067 0.21557683 0.23704761 prediction 0.405506485363222 Functional Loss - PEX7 ENSG00000112357 UTR5 Human protein_coding chr6:137143746 chr6:137143748 . . 0 23 hm5C_associated_SNPs_96470 2 Benign Phytanic acid storage disease RCV000336760.1
3875 chr3 148415670 148415670 1 + G T rs148296224 148415668 + 148415648 148415688 41 AACGCCCCTCACTATAAATTCGGAGCTGCCTCCTCGCCAAT AACGCCCCTCACTATAAATTCGTAGCTGCCTCCTCGCCAAT < 41bp 0.702631906226912 0.352265641392303 0.91018355 0.15066442 prediction 0.405263812453824 Functional Loss - AGTR1 ENSG00000144891 UTR5 Human protein_coding chr3:148415668 chr3:148415670 . . 0 23 hm5C_associated_SNPs_96584 1 Uncertain significance Renal dysplasia RCV000323444.1
3875 chr21 45213265 45213265 1 + C T HNSC 45213262 + 45213242 45213282 41 AGTGGACGGGCATTGACAGGCTGCGCCTGGATAAATTCTAC AGTGGACGGGCATTGACAGGCTGTGCCTGGATAAATTCTAC < 41bp 0.721146617413791 0.518575297853653 0.041358024 0.055719495 prediction 0.405142639120275 Functional Loss - RRP1 ENSG00000160214 CDS Human protein_coding chr21:45213262 chr21:45213265 nonsynonymous SNV 0.486 4 24 hm5C_associated_SNPs_96648 1 Uncertain significance Ductal breast carcinoma RCV000207187.1
3875 chr17 27069485 27069485 1 + G A rs528347456 27069482 + 27069462 27069502 41 ATTAGCTGGGCGTGGTGGCACGCGCCTGTAGTCCCAGCTGC ATTAGCTGGGCGTGGTGGCACGCACCTGTAGTCCCAGCTGC < 41bp 0.824088462823776 0.621596144632043 0.18386447 0.040905714 prediction 0.404984636383466 Functional Loss - NEK8 ENSG00000265073 ncRNA_exonic Human antisense chr17:27069482 chr17:27069485 . . 0 24 hm5C_associated_SNPs_96717 1 Uncertain significance Nephronophthisis RCV000356843.1
3875 chr7 2565078 2565078 1 + C T rs147266260 2565075 + 2565055 2565095 41 TGCCACGTGGACGATGACAACTACGTCAACCTGCGGGCCCT TGCCACGTGGACGATGACAACTATGTCAACCTGCGGGCCCT < 41bp 0.748340028941643 0.545849582217241 0.5584822 0.70187914 prediction 0.404980893448803 Functional Loss - LFNG ENSG00000106003 CDS Human protein_coding chr7:2565075 chr7:2565078 synonymous SNV . 0 24 hm5C_associated_SNPs_96719 1 Likely benign not specified RCV000245028.1
3875 chr17 45331221 45331221 1 + G C rs117052258 45331220 + 45331200 45331240 41 GGGCGGAGCGCCGCGGGAGGCGGACGAGATGCGAGCGCGGC GGGCGGAGCGCCGCGGGAGGCCGACGAGATGCGAGCGCGGC < 41bp 0.823777325135789 0.621314335409026 0.9029921 0.7870724 prediction 0.404925979453525 Functional Loss - ITGB3 ENSG00000259207 UTR5 Human protein_coding chr17:45331220 chr17:45331221 . . 0 22 hm5C_associated_SNPs_96745 2 Benign not specified RCV000253013.1
3875 chr17 45331221 45331221 1 + G C rs117052258 45331220 + 45331200 45331240 41 GGGCGGAGCGCCGCGGGAGGCGGACGAGATGCGAGCGCGGC GGGCGGAGCGCCGCGGGAGGCCGACGAGATGCGAGCGCGGC < 41bp 0.823777325135789 0.621314335409026 0.9029921 0.7870724 prediction 0.404925979453525 Functional Loss - ITGB3 ENSG00000259207 UTR5 Human protein_coding chr17:45331220 chr17:45331221 . . 0 22 hm5C_associated_SNPs_96745 2 Likely benign Glanzmann thrombasthenia RCV000323268.1
3875 chr11 63988121 63988121 1 + C T KICH 63988118 + 63988098 63988138 41 GCCTCGTTGCCCCCCGTTTCCAGCGAAAGTTCAAGGCCAAG GCCTCGTTGCCCCCCGTTTCCAGTGAAAGTTCAAGGCCAAG < 41bp 0.702548072606403 0.500198738438177 0.8378997 0.3652974 prediction 0.404698668336452 Functional Loss - FERMT3 ENSG00000149781 CDS Human protein_coding chr11:63988118 chr11:63988121 stopgain 0.997 1 24 hm5C_associated_SNPs_96845 1 Pathogenic Leukocyte adhesion deficiency, type III RCV000002831.2
3875 chr16 2552218 2552218 1 + G A rs545082961 2552215 + 2552195 2552235 41 TGGCCAGACGCAGGTAGGTGCCAGGGGAGGCCTTGCCTCTG TGGCCAGACGCAGGTAGGTGCCAAGGGAGGCCTTGCCTCTG < 41bp 0.702310943109494 0.443944934520283 0.91573495 0.71157306 prediction 0.404621886218988 Functional Loss - TBC1D24 ENSG00000162065 UTR3 Human protein_coding chr16:2552215 chr16:2552218 . . 0 24 hm5C_associated_SNPs_96882 1 Uncertain significance Myoclonic epilepsy, familial infantile RCV000374268.1
3875 chr16 4387698 4387698 1 + G A rs139029261 4387695 + 4387675 4387715 41 TCATGGCTGGCCTCCCAGCCCCCGGGTGGGGACCTGGCCTG TCATGGCTGGCCTCCCAGCCCCCAGGTGGGGACCTGGCCTG < 41bp 0.83511065231646 0.632846443274895 0.22128549 0.05475661 prediction 0.404528418083129 Functional Loss - GLIS2 ENSG00000262712 ncRNA_exonic Human sense_intronic chr16:4387695 chr16:4387698 . . 0 24 hm5C_associated_SNPs_96926 1 Likely benign Nephronophthisis RCV000343359.1
3875 chr16 2108821 2108821 1 + C T GBM 2108818 + 2108798 2108838 41 GCATGGCTCTCTGGGGAGCCCACCGGCTCTATTCTCTCAGG GCATGGCTCTCTGGGGAGCCCACTGGCTCTATTCTCTCAGG < 41bp 0.702210540040777 0.493214747235002 0.21841899 0.24511248 prediction 0.404421080081554 Functional Loss - TSC2 ENSG00000103197 CDS Human protein_coding chr16:2108818 chr16:2108821 nonsynonymous SNV 0.993 5 24 hm5C_associated_SNPs_96968 1 Uncertain significance Tuberous sclerosis 2 RCV000475119.1
3875 chrX 153170618 153170618 1 + A T rs5196 153170614 + 153170594 153170634 41 CCCACCATGCTCATGGCGTCCACCACTTCCGGTAAGGCTTG CCCACCATGCTCATGGCGTCCACCTCTTCCGGTAAGGCTTG < 41bp 0.702172932502761 0.377626416325045 0.28579974 0.22457531 prediction 0.404345865005521 Functional Loss - AVPR2 ENSG00000126895 CDS Human protein_coding chrX:153170614 chrX:153170618 nonsynonymous SNV 0.044 0 25 hm5C_associated_SNPs_97008 1 Benign Nephrogenic diabetes insipidus RCV000270798.1
3875 chr3 128525253 128525253 1 + C T rs4548 128525251 + 128525231 128525271 41 GACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGA GACAGGAACGGTTCCAGTCTCTTGGTGTGGCCTTCTACAGA < 41bp 0.881332703561069 0.679205459268105 0.12242216 0.10944283 prediction 0.404254488585928 Functional Loss - RAB7A ENSG00000075785 CDS Human protein_coding chr3:128525251 chr3:128525253 synonymous SNV . 0 23 hm5C_associated_SNPs_97058 2 Benign not specified RCV000127682.1
3875 chr3 128525253 128525253 1 + C T rs4548 128525251 + 128525231 128525271 41 GACAGGAACGGTTCCAGTCTCTCGGTGTGGCCTTCTACAGA GACAGGAACGGTTCCAGTCTCTTGGTGTGGCCTTCTACAGA < 41bp 0.881332703561069 0.679205459268105 0.12242216 0.10944283 prediction 0.404254488585928 Functional Loss - RAB7A ENSG00000075785 CDS Human protein_coding chr3:128525251 chr3:128525253 synonymous SNV . 0 23 hm5C_associated_SNPs_97058 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000291196.1
3875 chr2 179402367 179402367 1 + G A ESCA 179402364 + 179402344 179402384 41 TGGAACTGCGGTGTTGCTTGCAGGAGAAGCTTACTACTGGT TGGAACTGCGGTGTTGCTTGCAGAAGAAGCTTACTACTGGT < 41bp 0.764946052939851 0.562846112412667 0.9420937 0.7890455 prediction 0.404199881054369 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179402364 chr2:179402367 synonymous SNV . 0 24 hm5C_associated_SNPs_97087 7 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000286171.1
3875 chr2 179402367 179402367 1 + G A ESCA 179402364 + 179402344 179402384 41 TGGAACTGCGGTGTTGCTTGCAGGAGAAGCTTACTACTGGT TGGAACTGCGGTGTTGCTTGCAGAAGAAGCTTACTACTGGT < 41bp 0.764946052939851 0.562846112412667 0.9420937 0.7890455 prediction 0.404199881054369 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179402364 chr2:179402367 synonymous SNV . 0 24 hm5C_associated_SNPs_97087 7 Uncertain significance Limb-Girdle Muscular Dystrophy, Recessive RCV000291846.1
3875 chr2 179402367 179402367 1 + G A ESCA 179402364 + 179402344 179402384 41 TGGAACTGCGGTGTTGCTTGCAGGAGAAGCTTACTACTGGT TGGAACTGCGGTGTTGCTTGCAGAAGAAGCTTACTACTGGT < 41bp 0.764946052939851 0.562846112412667 0.9420937 0.7890455 prediction 0.404199881054369 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179402364 chr2:179402367 synonymous SNV . 0 24 hm5C_associated_SNPs_97087 7 Uncertain significance Hereditary myopathy with early respiratory failure RCV000321215.1
3875 chr2 179402367 179402367 1 + G A ESCA 179402364 + 179402344 179402384 41 TGGAACTGCGGTGTTGCTTGCAGGAGAAGCTTACTACTGGT TGGAACTGCGGTGTTGCTTGCAGAAGAAGCTTACTACTGGT < 41bp 0.764946052939851 0.562846112412667 0.9420937 0.7890455 prediction 0.404199881054369 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179402364 chr2:179402367 synonymous SNV . 0 24 hm5C_associated_SNPs_97087 7 Uncertain significance Hypertrophic cardiomyopathy RCV000343471.1
3875 chr2 179402367 179402367 1 + G A ESCA 179402364 + 179402344 179402384 41 TGGAACTGCGGTGTTGCTTGCAGGAGAAGCTTACTACTGGT TGGAACTGCGGTGTTGCTTGCAGAAGAAGCTTACTACTGGT < 41bp 0.764946052939851 0.562846112412667 0.9420937 0.7890455 prediction 0.404199881054369 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179402364 chr2:179402367 synonymous SNV . 0 24 hm5C_associated_SNPs_97087 7 Uncertain significance Myopathy, early-onset, with fatal cardiomyopathy RCV000378182.1
3875 chr2 179402367 179402367 1 + G A ESCA 179402364 + 179402344 179402384 41 TGGAACTGCGGTGTTGCTTGCAGGAGAAGCTTACTACTGGT TGGAACTGCGGTGTTGCTTGCAGAAGAAGCTTACTACTGGT < 41bp 0.764946052939851 0.562846112412667 0.9420937 0.7890455 prediction 0.404199881054369 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179402364 chr2:179402367 synonymous SNV . 0 24 hm5C_associated_SNPs_97087 7 Uncertain significance Distal myopathy Markesbery-Griggs type RCV000407408.1
3875 chr2 179402367 179402367 1 + G A ESCA 179402364 + 179402344 179402384 41 TGGAACTGCGGTGTTGCTTGCAGGAGAAGCTTACTACTGGT TGGAACTGCGGTGTTGCTTGCAGAAGAAGCTTACTACTGGT < 41bp 0.764946052939851 0.562846112412667 0.9420937 0.7890455 prediction 0.404199881054369 Functional Loss - TTN ENSG00000155657 CDS Human protein_coding chr2:179402364 chr2:179402367 synonymous SNV . 0 24 hm5C_associated_SNPs_97087 7 Likely benign not specified RCV000431706.1
3875 chr9 34506738 34506738 1 + G A UCEC 34506735 + 34506715 34506755 41 GCGTCATGTGTCTCGACATCCACGTGGACCACCCCTACCTG GCGTCATGTGTCTCGACATCCACATGGACCACCCCTACCTG < 41bp 0.838357020010219 0.636345890264538 0.1586965 0.052063197 prediction 0.404022259491361 Functional Loss - DNAI1 ENSG00000122735 CDS Human protein_coding chr9:34506735 chr9:34506738 nonsynonymous SNV 0.975 1 24 hm5C_associated_SNPs_97180 1 Likely benign not specified RCV000243246.1
3875 chr9 133942516 133942516 1 + G A rs140540789 133942513 + 133942493 133942533 41 CTGCGCTGCCTGCACAACACCACGGGTGACCACTGTGAGCA CTGCGCTGCCTGCACAACACCACAGGTGACCACTGTGAGCA < 41bp 0.701982159220853 0.442850344617455 0.341146 0.4019202 prediction 0.403964318441706 Functional Loss - LAMC3 ENSG00000050555 CDS Human protein_coding chr9:133942513 chr9:133942516 synonymous SNV . 0 24 hm5C_associated_SNPs_97202 1 other not specified RCV000443100.1
3875 chr2 27730940 27730940 1 + T C rs1260326 27730939 + 27730919 27730959 41 GCACCGTGGGTCAGACCTTGCTGGTGAGAGTCCAGCCGTGA GCACCGTGGGTCAGACCTTGCCGGTGAGAGTCCAGCCGTGA < 41bp 0.812389250374084 0.610546528168172 0.3584717 0.67400104 prediction 0.403685444411826 Functional Loss - GCKR ENSG00000084734 CDS Human protein_coding chr2:27730939 chr2:27730940 nonsynonymous SNV 0.412 0 22 hm5C_associated_SNPs_97321 1 other Fasting plasma glucose level quantitative trait locus 5 RCV000009294.2
3875 chr7 116339282 116339282 1 + G A rs11762213 116339279 + 116339259 116339299 41 TATCAGCTTCCCAACTTCACCGCGGAAACACCCATCCAGAA TATCAGCTTCCCAACTTCACCGCAGAAACACCCATCCAGAA < 41bp 0.757570446599393 0.555914323142806 0.05548477 0.021815151 prediction 0.403312246913173 Functional Loss - MET ENSG00000105976 CDS Human protein_coding chr7:116339279 chr7:116339282 synonymous SNV . 0 24 hm5C_associated_SNPs_97473 3 other not specified RCV000079484.6
3875 chr7 116339282 116339282 1 + G A rs11762213 116339279 + 116339259 116339299 41 TATCAGCTTCCCAACTTCACCGCGGAAACACCCATCCAGAA TATCAGCTTCCCAACTTCACCGCAGAAACACCCATCCAGAA < 41bp 0.757570446599393 0.555914323142806 0.05548477 0.021815151 prediction 0.403312246913173 Functional Loss - MET ENSG00000105976 CDS Human protein_coding chr7:116339279 chr7:116339282 synonymous SNV . 0 24 hm5C_associated_SNPs_97473 3 other Renal cell carcinoma, papillary, 1 RCV000119121.4
3875 chr7 116339282 116339282 1 + G A rs11762213 116339279 + 116339259 116339299 41 TATCAGCTTCCCAACTTCACCGCGGAAACACCCATCCAGAA TATCAGCTTCCCAACTTCACCGCAGAAACACCCATCCAGAA < 41bp 0.757570446599393 0.555914323142806 0.05548477 0.021815151 prediction 0.403312246913173 Functional Loss - MET ENSG00000105976 CDS Human protein_coding chr7:116339279 chr7:116339282 synonymous SNV . 0 24 hm5C_associated_SNPs_97473 3 Benign Hereditary cancer-predisposing syndrome RCV000129659.2
3875 chr1 245006439 245006439 1 + C T rs1053697 245006437 + 245006417 245006457 41 TATTATATGAAGGTACCCACCTCGATCCTGAAAGAAAACAC TATTATATGAAGGTACCCACCTTGATCCTGAAAGAAAACAC < 41bp 0.876260805198487 0.674672380947108 0.23740107 0.013619065 prediction 0.403176848502757 Functional Loss - COX20 ENSG00000203667 CDS Human protein_coding chr1:245006437 chr1:245006439 synonymous SNV . 0 23 hm5C_associated_SNPs_97542 1 Benign not specified RCV000124583.1
3875 chr13 100634531 100634531 1 + G A rs189469383 100634528 + 100634508 100634548 41 CCGGGCGCGCACGAGCTGTCCCCGGGCCAGAGCTCGGCGTT CCGGGCGCGCACGAGCTGTCCCCAGGCCAGAGCTCGGCGTT < 41bp 0.828245615669757 0.62671338831196 0.4158287 0.11116046 prediction 0.403064454715593 Functional Loss - ZIC2 ENSG00000043355 CDS Human protein_coding chr13:100634528 chr13:100634531 synonymous SNV . 0 24 hm5C_associated_SNPs_97609 1 Benign not specified RCV000241959.1
3875 chr4 3494634 3494634 1 + C T rs138148221 3494631 + 3494611 3494651 41 AGACCAGCAGCTGCCCAGGCCGCCGGGGAAGCCATGGTGGG AGACCAGCAGCTGCCCAGGCCGCTGGGGAAGCCATGGTGGG < 41bp 0.701516862952234 0.489835322741668 0.44526953 0.48458228 prediction 0.403033725904469 Functional Loss - DOK7 ENSG00000175920 CDS Human protein_coding chr4:3494631 chr4:3494634 synonymous SNV . 0 24 hm5C_associated_SNPs_97629 1 Likely benign not specified RCV000244629.2
3875 chr13 43148565 43148565 1 + T C rs2296533 43148564 + 43148544 43148584 41 GCCTGCGCCGCACCAGCCCCCTGCCGCCTCCCGCTCCATGT GCCTGCGCCGCACCAGCCCCCCGCCGCCTCCCGCTCCATGT < 41bp 0.727041507329005 0.525529456914341 0.04097709 0.037292123 prediction 0.403024100829328 Functional Loss - TNFSF11 ENSG00000120659 CDS Human protein_coding chr13:43148564 chr13:43148565 synonymous SNV . 0 22 hm5C_associated_SNPs_97634 2 Benign not specified RCV000173308.2
3875 chr13 43148565 43148565 1 + T C rs2296533 43148564 + 43148544 43148584 41 GCCTGCGCCGCACCAGCCCCCTGCCGCCTCCCGCTCCATGT GCCTGCGCCGCACCAGCCCCCCGCCGCCTCCCGCTCCATGT < 41bp 0.727041507329005 0.525529456914341 0.04097709 0.037292123 prediction 0.403024100829328 Functional Loss - TNFSF11 ENSG00000120659 CDS Human protein_coding chr13:43148564 chr13:43148565 synonymous SNV . 0 22 hm5C_associated_SNPs_97634 2 Benign Osteopetrosis RCV000394042.1
3875 chr12 121426820 121426820 1 + C T CESC 121426817 + 121426797 121426837 41 ACACCTGGTACGTCCGCAAGCAGCGAGAGGTGGCGCAGCGT ACACCTGGTACGTCCGCAAGCAGTGAGAGGTGGCGCAGCGT < 41bp 0.727688589961089 0.52619327961745 0.35913584 0.25957173 prediction 0.402990620687278 Functional Loss - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121426817 chr12:121426820 stopgain 0.998 1 24 hm5C_associated_SNPs_97649 1 Pathogenic not provided RCV000436030.1
3875 chr1 3322139 3322139 1 + C T rs61745281 3322136 + 3322116 3322156 41 CGGGCCCACGCCTGCCCCGACTGCGGGAAGACCTTCGCCAC CGGGCCCACGCCTGCCCCGACTGTGGGAAGACCTTCGCCAC < 41bp 0.711731153009526 0.510260197607071 0.377326 0.32973242 prediction 0.402941910804909 Functional Loss - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3322136 chr1:3322139 synonymous SNV . 0 24 hm5C_associated_SNPs_97674 2 Benign not specified RCV000214207.2
3875 chr1 3322139 3322139 1 + C T rs61745281 3322136 + 3322116 3322156 41 CGGGCCCACGCCTGCCCCGACTGCGGGAAGACCTTCGCCAC CGGGCCCACGCCTGCCCCGACTGTGGGAAGACCTTCGCCAC < 41bp 0.711731153009526 0.510260197607071 0.377326 0.32973242 prediction 0.402941910804909 Functional Loss - PRDM16 ENSG00000142611 CDS Human protein_coding chr1:3322136 chr1:3322139 synonymous SNV . 0 24 hm5C_associated_SNPs_97674 2 Benign Left ventricular noncompaction 8 RCV000475757.1
3875 chr16 2550358 2550358 1 + C T rs199865687 2550355 + 2550335 2550375 41 CCCTTGATGGCTGCCGAGCCCACCGCCCCACTCAGCCACTC CCCTTGATGGCTGCCGAGCCCACTGCCCCACTCAGCCACTC < 41bp 0.701443632371828 0.489381973419843 0.26160306 0.16426507 prediction 0.402887264743657 Functional Loss - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550355 chr16:2550358 synonymous SNV . 0 24 hm5C_associated_SNPs_97703 3 Likely benign Caused by mutation in the TBC1 domain family, member 24 RCV000229919.1
3875 chr16 2550358 2550358 1 + C T rs199865687 2550355 + 2550335 2550375 41 CCCTTGATGGCTGCCGAGCCCACCGCCCCACTCAGCCACTC CCCTTGATGGCTGCCGAGCCCACTGCCCCACTCAGCCACTC < 41bp 0.701443632371828 0.489381973419843 0.26160306 0.16426507 prediction 0.402887264743657 Functional Loss - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550355 chr16:2550358 synonymous SNV . 0 24 hm5C_associated_SNPs_97703 3 Likely benign Deafness, autosomal dominant 65 RCV000229919.1
3875 chr16 2550358 2550358 1 + C T rs199865687 2550355 + 2550335 2550375 41 CCCTTGATGGCTGCCGAGCCCACCGCCCCACTCAGCCACTC CCCTTGATGGCTGCCGAGCCCACTGCCCCACTCAGCCACTC < 41bp 0.701443632371828 0.489381973419843 0.26160306 0.16426507 prediction 0.402887264743657 Functional Loss - TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2550355 chr16:2550358 synonymous SNV . 0 24 hm5C_associated_SNPs_97703 3 Likely benign Epileptic encephalopathy, early infantile, 1 RCV000229919.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767329 + 73767309 73767349 41 TTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGT TTCGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGT < 41bp 0.740626430160692 0.539199434529323 0.8350496 0.53184956 prediction 0.402853991262738 Functional Loss - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767329 chr10:73767332 synonymous SNV . 0 24 hm5C_associated_SNPs_97730 4 Uncertain significance Larsen syndrome RCV000296621.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767329 + 73767309 73767349 41 TTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGT TTCGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGT < 41bp 0.740626430160692 0.539199434529323 0.8350496 0.53184956 prediction 0.402853991262738 Functional Loss - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767329 chr10:73767332 synonymous SNV . 0 24 hm5C_associated_SNPs_97730 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000316546.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767329 + 73767309 73767349 41 TTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGT TTCGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGT < 41bp 0.740626430160692 0.539199434529323 0.8350496 0.53184956 prediction 0.402853991262738 Functional Loss - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767329 chr10:73767332 synonymous SNV . 0 24 hm5C_associated_SNPs_97730 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000373459.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767329 + 73767309 73767349 41 TTCGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGT TTCGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGT < 41bp 0.740626430160692 0.539199434529323 0.8350496 0.53184956 prediction 0.402853991262738 Functional Loss - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767329 chr10:73767332 synonymous SNV . 0 24 hm5C_associated_SNPs_97730 4 Uncertain significance Skeletal dysplasia RCV000388673.1
3875 chr19 45682026 45682026 1 + A C rs8104024 45682025 + 45682005 45682045 41 AATCACAGCCCTTCAGCTGCCACGGTGAGAACGCAGCACTC AATCACAGCCCTTCAGCTGCCCCGGTGAGAACGCAGCACTC < 41bp 0.820506247800469 0.619097049278638 0.7991219 0.7933692 prediction 0.402818397043662 Functional Loss - BLOC1S3 ENSG00000189114 UTR5 Human protein_coding chr19:45682025 chr19:45682026 . . 0 22 hm5C_associated_SNPs_97747 1 Likely benign Hermansky-Pudlak syndrome RCV000334490.1
3875 chr19 54618999 54618999 1 + C A rs45619231 54619001 - 54618981 54619021 41 AGGCGGAGAGAGGCGGTAAGCCGCGAGGAGGAAAGGGACTC AGGCGGAGAGAGGCGGTAAGCCTCGAGGAGGAAAGGGACTC < 41bp 0.701382224406091 0.35456341043224 0.7687587 0.7610371 prediction 0.402764448812182 Functional Loss - PRPF31;TFPT ENSG00000105618;ENSG00000105619 UTR5 Human other chr19:54619001 chr19:54618999 . . 0 23 hm5C_associated_SNPs_97771 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000302480.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000162461.3
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic not provided RCV000237013.2
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Glioblastoma RCV000417610.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000419372.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Acute myeloid leukemia RCV000420028.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Neoplasm of brain RCV000421040.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Squamous cell carcinoma of lung RCV000421688.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Colorectal Neoplasms RCV000425628.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Small cell lung cancer RCV000426825.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Neoplasm of the breast RCV000427448.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Adrenocortical carcinoma RCV000428519.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000430781.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Pancreatic adenocarcinoma RCV000431915.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Adenocarcinoma of lung RCV000432405.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Malignant melanoma of skin RCV000433024.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Squamous cell carcinoma of the skin RCV000436631.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Hepatocellular carcinoma RCV000438105.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Renal cell carcinoma RCV000438666.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Transitional cell carcinoma of the bladder RCV000439150.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Adenocarcinoma of stomach RCV000441098.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Oesophageal carcinoma RCV000442735.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Likely pathogenic Brainstem glioma RCV000443535.1
3875 chr17 7579313 7579313 1 + G A HNSC 7579315 - 7579295 7579335 41 ACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTGAGGG ACAGCCAAGTCTGTGACTTGCATGGTCAGTTGCCCTGAGGG < 41bp 0.81299058755366 0.611619169295129 0.29939675 0.33422285 prediction 0.402742836517062 Functional Loss - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579315 chr17:7579313 nonsynonymous SNV 0.986 5 23 hm5C_associated_SNPs_97782 23 Uncertain significance Li-Fraumeni syndrome RCV000457119.1
3875 chr12 9004388 9004388 1 + G A rs74582459 9004385 + 9004365 9004405 41 CTTGTGTTTTCACAGTAACTCGGGGAAGGAGGCGGTCCACG CTTGTGTTTTCACAGTAACTCGGAGAAGGAGGCGGTCCACG < 41bp 0.837060754138621 0.635741022229447 0.91924506 0.882918 prediction 0.402639463818348 Functional Loss - A2ML1 ENSG00000166535 CDS Human protein_coding chr12:9004385 chr12:9004388 nonsynonymous SNV 0.053 4 24 hm5C_associated_SNPs_97831 1 Benign not specified RCV000226688.2
3875 chr11 1862698 1862698 1 + C T UCEC 1862695 + 1862675 1862715 41 CTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGG CTCCTCCACAGGAGCGGGACCTGTGAGACGTGGGTGACTGG < 41bp 0.70125588666699 0.479901487446811 0.3936229 0.31901208 prediction 0.40251177333398 Functional Loss - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1862695 chr11:1862698 stopgain 0.992 1 24 hm5C_associated_SNPs_97894 6 Pathogenic Distal arthrogryposis type 2B RCV000013249.17
3875 chr11 1862698 1862698 1 + C T UCEC 1862695 + 1862675 1862715 41 CTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGG CTCCTCCACAGGAGCGGGACCTGTGAGACGTGGGTGACTGG < 41bp 0.70125588666699 0.479901487446811 0.3936229 0.31901208 prediction 0.40251177333398 Functional Loss - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1862695 chr11:1862698 stopgain 0.992 1 24 hm5C_associated_SNPs_97894 6 not provided not provided RCV000128665.1
3875 chr11 1862698 1862698 1 + C T UCEC 1862695 + 1862675 1862715 41 CTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGG CTCCTCCACAGGAGCGGGACCTGTGAGACGTGGGTGACTGG < 41bp 0.70125588666699 0.479901487446811 0.3936229 0.31901208 prediction 0.40251177333398 Functional Loss - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1862695 chr11:1862698 stopgain 0.992 1 24 hm5C_associated_SNPs_97894 6 Pathogenic Calcaneovalgus deformity RCV000415208.1
3875 chr11 1862698 1862698 1 + C T UCEC 1862695 + 1862675 1862715 41 CTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGG CTCCTCCACAGGAGCGGGACCTGTGAGACGTGGGTGACTGG < 41bp 0.70125588666699 0.479901487446811 0.3936229 0.31901208 prediction 0.40251177333398 Functional Loss - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1862695 chr11:1862698 stopgain 0.992 1 24 hm5C_associated_SNPs_97894 6 Pathogenic Congenital finger flexion contractures RCV000415208.1
3875 chr11 1862698 1862698 1 + C T UCEC 1862695 + 1862675 1862715 41 CTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGG CTCCTCCACAGGAGCGGGACCTGTGAGACGTGGGTGACTGG < 41bp 0.70125588666699 0.479901487446811 0.3936229 0.31901208 prediction 0.40251177333398 Functional Loss - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1862695 chr11:1862698 stopgain 0.992 1 24 hm5C_associated_SNPs_97894 6 Pathogenic Distal arthrogryposis RCV000415208.1
3875 chr11 1862698 1862698 1 + C T UCEC 1862695 + 1862675 1862715 41 CTCCTCCACAGGAGCGGGACCTGCGAGACGTGGGTGACTGG CTCCTCCACAGGAGCGGGACCTGTGAGACGTGGGTGACTGG < 41bp 0.70125588666699 0.479901487446811 0.3936229 0.31901208 prediction 0.40251177333398 Functional Loss - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1862695 chr11:1862698 stopgain 0.992 1 24 hm5C_associated_SNPs_97894 6 Pathogenic Ulnar deviation of the wrist RCV000415208.1
3875 chr19 50905074 50905074 1 + G A rs1726801 50905071 + 50905051 50905091 41 GCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGC GCCTGGGGGGCCCCCACCATCCCACGGCTCCGTGCCTGTGC < 41bp 0.701210159564602 0.441305558595022 0.31475613 0.07124466 prediction 0.402420319129204 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905071 chr19:50905074 nonsynonymous SNV 0.000 0 24 hm5C_associated_SNPs_97934 1 Benign not specified RCV000424291.1
3875 chr19 50905073 50905073 1 + C T HNSC 50905071 + 50905051 50905091 41 GCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGC GCCTGGGGGGCCCCCACCATCCTGCGGCTCCGTGCCTGTGC < 41bp 0.701210159564602 0.450679054059913 0.31475613 0.049554646 prediction 0.402420319129204 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905071 chr19:50905073 nonsynonymous SNV 0.001 0 23 hm5C_associated_SNPs_97935 2 Uncertain significance Colorectal cancer 10 RCV000234495.2
3875 chr19 50905073 50905073 1 + C T HNSC 50905071 + 50905051 50905091 41 GCCTGGGGGGCCCCCACCATCCCGCGGCTCCGTGCCTGTGC GCCTGGGGGGCCCCCACCATCCTGCGGCTCCGTGCCTGTGC < 41bp 0.701210159564602 0.450679054059913 0.31475613 0.049554646 prediction 0.402420319129204 Functional Loss - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905071 chr19:50905073 nonsynonymous SNV 0.001 0 23 hm5C_associated_SNPs_97935 2 Uncertain significance not specified RCV000483550.1
3875 chr12 64174904 64174904 1 + C T rs73122634 64174902 + 64174882 64174922 41 CTTCAAATATTAGATAAATCCACGAAAGGAAAAACAGATCT CTTCAAATATTAGATAAATCCATGAAAGGAAAAACAGATCT < 41bp 0.84502256938868 0.643823073438946 0.09697899 0.09557018 prediction 0.402398991899468 Functional Loss - TMEM5 ENSG00000118600 CDS Human protein_coding chr12:64174902 chr12:64174904 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_97940 2 Likely benign not specified RCV000249001.1
3875 chr12 64174904 64174904 1 + C T rs73122634 64174902 + 64174882 64174922 41 CTTCAAATATTAGATAAATCCACGAAAGGAAAAACAGATCT CTTCAAATATTAGATAAATCCATGAAAGGAAAAACAGATCT < 41bp 0.84502256938868 0.643823073438946 0.09697899 0.09557018 prediction 0.402398991899468 Functional Loss - TMEM5 ENSG00000118600 CDS Human protein_coding chr12:64174902 chr12:64174904 nonsynonymous SNV 0.991 0 23 hm5C_associated_SNPs_97940 2 other not provided RCV000415742.2
3875 chr16 2546267 2546267 1 + C T CESC 2546265 + 2546245 2546285 41 GCAGGAACTGAAGCAGCTGGCGCGCCAGGGCTACTGGGCCC GCAGGAACTGAAGCAGCTGGCGTGCCAGGGCTACTGGGCCC < 41bp 0.701179069632865 0.432162988555826 0.60273063 0.61199754 prediction 0.40235813926573 Functional Loss - TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546265 chr16:2546267 nonsynonymous SNV 0.977 4 23 hm5C_associated_SNPs_97958 1 Pathogenic Digitorenocerebral syndrome RCV000076914.6
3875 chrX 2777985 2777985 1 + C T rs2306734 2777982 + 2777962 2778002 41 CTCGGTGTTGGAGCAAGGCTCAGCGTCCAGCAGCCAGCACC CTCGGTGTTGGAGCAAGGCTCAGTGTCCAGCAGCCAGCACC < 41bp 0.752565294649173 0.551424612061104 0.74888843 0.40151885 prediction 0.402281365176138 Functional Loss - GYG2 ENSG00000056998 CDS Human protein_coding chrX:2777982 chrX:2777985 nonsynonymous SNV 0.000 0 24 hm5C_associated_SNPs_98004 1 Benign not specified RCV000430610.1
3875 chr3 121976030 121976030 1 + G A SKCM 121976027 + 121976007 121976047 41 CCCAACTTGACGCTGGGATACAGGATATTTGACACTTGCAA CCCAACTTGACGCTGGGATACAGAATATTTGACACTTGCAA < 41bp 0.817130357054165 0.615994135815988 0.29223078 0.14319432 prediction 0.402272442476355 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:121976027 chr3:121976030 synonymous SNV . 0 24 hm5C_associated_SNPs_98009 2 Likely benign Hypocalcemia, autosomal dominant 1 RCV000472948.1
3875 chr3 121976030 121976030 1 + G A SKCM 121976027 + 121976007 121976047 41 CCCAACTTGACGCTGGGATACAGGATATTTGACACTTGCAA CCCAACTTGACGCTGGGATACAGAATATTTGACACTTGCAA < 41bp 0.817130357054165 0.615994135815988 0.29223078 0.14319432 prediction 0.402272442476355 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:121976027 chr3:121976030 synonymous SNV . 0 24 hm5C_associated_SNPs_98009 2 Likely benign Hypocalciuric hypercalcemia, familial, type 1 RCV000472948.1
3875 chr13 49039375 49039375 1 + G A UCEC 49039372 + 49039352 49039392 41 GTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTC GTCACCAATACCTCACATTCCTCAAAGCCCTTACAAGTTTC < 41bp 0.797093517959416 0.595984139874401 0.5593939 0.3462705 prediction 0.402218756170031 Functional Loss - RB1 ENSG00000139687 CDS Human protein_coding chr13:49039372 chr13:49039375 nonsynonymous SNV 1.000 3 24 hm5C_associated_SNPs_98040 2 Uncertain significance not specified RCV000455977.1
3875 chr13 49039375 49039375 1 + G A UCEC 49039372 + 49039352 49039392 41 GTCACCAATACCTCACATTCCTCGAAGCCCTTACAAGTTTC GTCACCAATACCTCACATTCCTCAAAGCCCTTACAAGTTTC < 41bp 0.797093517959416 0.595984139874401 0.5593939 0.3462705 prediction 0.402218756170031 Functional Loss - RB1 ENSG00000139687 CDS Human protein_coding chr13:49039372 chr13:49039375 nonsynonymous SNV 1.000 3 24 hm5C_associated_SNPs_98040 2 Uncertain significance Retinoblastoma RCV000459571.1
3875 chr10 99508086 99508086 1 + C T rs116366646 99508084 + 99508064 99508104 41 GCACATGTGAAGCCGCCTACCGCGTGCTGCACTGGGAGAAC GCACATGTGAAGCCGCCTACCGTGTGCTGCACTGGGAGAAC < 41bp 0.83917883007118 0.6381685982417 0.403086 0.5151723 prediction 0.402020463658961 Functional Loss - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99508084 chr10:99508086 synonymous SNV . 0 23 hm5C_associated_SNPs_98149 1 Likely benign Spastic Paraplegia, Dominant RCV000369082.1
3875 chr19 11098463 11098463 1 + A C rs547268941 11098462 + 11098442 11098482 41 CGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCG CGCCGCCTCGCCCGTGATGCCCCCGCAGACCCAGTCCCCCG < 41bp 0.800424297010187 0.599451380132783 0.12610924 0.058984995 prediction 0.401945833754809 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098462 chr19:11098463 synonymous SNV . 0 22 hm5C_associated_SNPs_98185 3 other not specified RCV000193950.2
3875 chr19 11098463 11098463 1 + A C rs547268941 11098462 + 11098442 11098482 41 CGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCG CGCCGCCTCGCCCGTGATGCCCCCGCAGACCCAGTCCCCCG < 41bp 0.800424297010187 0.599451380132783 0.12610924 0.058984995 prediction 0.401945833754809 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098462 chr19:11098463 synonymous SNV . 0 22 hm5C_associated_SNPs_98185 3 Benign Rhabdoid tumor predisposition syndrome 2 RCV000205491.3
3875 chr19 11098463 11098463 1 + A C rs547268941 11098462 + 11098442 11098482 41 CGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCG CGCCGCCTCGCCCGTGATGCCCCCGCAGACCCAGTCCCCCG < 41bp 0.800424297010187 0.599451380132783 0.12610924 0.058984995 prediction 0.401945833754809 Functional Loss - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098462 chr19:11098463 synonymous SNV . 0 22 hm5C_associated_SNPs_98185 3 Likely benign Coffin-Siris syndrome RCV000297305.1
3875 chr22 37260123 37260123 1 + G A rs10854695 37260120 + 37260100 37260140 41 CTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACAT CTTCCGGATGATGTTGCCATCTCAGCCAACATTGCTGACAT < 41bp 0.802428996993513 0.601519374787747 0.30953795 0.15031487 prediction 0.401819244411533 Functional Loss - NCF4 ENSG00000100365 CDS Human protein_coding chr22:37260120 chr22:37260123 synonymous SNV . 0 24 hm5C_associated_SNPs_98235 2 Benign not specified RCV000245236.1
3875 chr22 37260123 37260123 1 + G A rs10854695 37260120 + 37260100 37260140 41 CTTCCGGATGATGTTGCCATCTCGGCCAACATTGCTGACAT CTTCCGGATGATGTTGCCATCTCAGCCAACATTGCTGACAT < 41bp 0.802428996993513 0.601519374787747 0.30953795 0.15031487 prediction 0.401819244411533 Functional Loss - NCF4 ENSG00000100365 CDS Human protein_coding chr22:37260120 chr22:37260123 synonymous SNV . 0 24 hm5C_associated_SNPs_98235 2 Likely benign Chronic granulomatous disease RCV000352859.1
3875 chr15 58837954 58837954 1 + G A rs34351746 58837951 + 58837931 58837971 41 TTCCCATTAGGGCTGGATGCCGCGGGACCTTTGTTTGAGGG TTCCCATTAGGGCTGGATGCCGCAGGACCTTTGTTTGAGGG < 41bp 0.824596578125039 0.623692904444439 0.3523206 0.069104135 prediction 0.4018073473612 Functional Loss - LIPC ENSG00000166035 CDS Human protein_coding chr15:58837951 chr15:58837954 synonymous SNV . 0 24 hm5C_associated_SNPs_98242 1 Uncertain significance Hepatic lipase deficiency RCV000306154.1
3875 chr15 42695111 42695111 1 + C T LUAD 42695108 + 42695088 42695128 41 CAGCGCTTCCGCCTGCCTCCCAGCGAGTACGTCATCGTGCC CAGCGCTTCCGCCTGCCTCCCAGTGAGTACGTCATCGTGCC < 41bp 0.745655209351593 0.544836375097102 0.6360723 0.30598566 prediction 0.401637668508982 Functional Loss - CAPN3 ENSG00000092529 CDS Human protein_coding chr15:42695108 chr15:42695111 synonymous SNV . 0 24 hm5C_associated_SNPs_98337 1 Uncertain significance not specified RCV000345342.1
3875 chr14 37146558 37146558 1 + C T rs17104971 37146556 + 37146536 37146576 41 TTTATTTCTACAGCAGAGGACACGAAAAACAGATAAAACAA TTTATTTCTACAGCAGAGGACATGAAAAACAGATAAAACAA < 41bp 0.774482232662339 0.573687480637635 0.32066527 0.32256573 prediction 0.401589504049409 Functional Loss - PAX9 ENSG00000198807 UTR3 Human protein_coding chr14:37146556 chr14:37146558 . . 0 23 hm5C_associated_SNPs_98363 1 Likely benign Selective tooth agenesis RCV000380621.1
3875 chr11 118962207 118962207 1 + C T UCEC 118962204 + 118962184 118962224 41 TCCTGGCAACAGCTGGCCTGCAGCGCATGGGCTGGCACAAC TCCTGGCAACAGCTGGCCTGCAGTGCATGGGCTGGCACAAC < 41bp 0.700771774537733 0.498195120770225 0.5402202 0.43562502 prediction 0.401543549075466 Functional Loss - HMBS ENSG00000256269 CDS Human protein_coding chr11:118962204 chr11:118962207 nonsynonymous SNV 0.999 5 24 hm5C_associated_SNPs_98389 1 Likely pathogenic Acute intermittent porphyria RCV000148509.1
3875 chr5 145719368 145719368 1 + G A rs113137300 145719365 + 145719345 145719385 41 CTGCTGGAGCACATCTCGCCCACGCTGAGTGTGAGCGGCCT CTGCTGGAGCACATCTCGCCCACACTGAGTGTGAGCGGCCT < 41bp 0.700737800327166 0.455381477680074 0.12491804 0.033611983 prediction 0.401475600654331 Functional Loss - POU4F3 ENSG00000091010 CDS Human protein_coding chr5:145719365 chr5:145719368 synonymous SNV . 0 24 hm5C_associated_SNPs_98422 1 Benign not specified RCV000155385.1
3875 chr5 118872184 118872184 1 + C T rs28943592 118872181 + 118872161 118872201 41 TGCAAAAGGTGCTGCTGATACAACAATCATACTTTCAGATG TGCAAAAGGTGCTGCTGATACAATAATCATACTTTCAGATG < 41bp 0.755731026744014 0.555050972480391 0.06219688 0.13663018 prediction 0.401360108527244 Functional Loss - HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118872181 chr5:118872184 nonsynonymous SNV 0.992 3 24 hm5C_associated_SNPs_98488 3 Benign not specified RCV000218324.1
3875 chr5 118872184 118872184 1 + C T rs28943592 118872181 + 118872161 118872201 41 TGCAAAAGGTGCTGCTGATACAACAATCATACTTTCAGATG TGCAAAAGGTGCTGCTGATACAATAATCATACTTTCAGATG < 41bp 0.755731026744014 0.555050972480391 0.06219688 0.13663018 prediction 0.401360108527244 Functional Loss - HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118872181 chr5:118872184 nonsynonymous SNV 0.992 3 24 hm5C_associated_SNPs_98488 3 Likely benign Perrault Syndrome RCV000301707.1
3875 chr5 118872184 118872184 1 + C T rs28943592 118872181 + 118872161 118872201 41 TGCAAAAGGTGCTGCTGATACAACAATCATACTTTCAGATG TGCAAAAGGTGCTGCTGATACAATAATCATACTTTCAGATG < 41bp 0.755731026744014 0.555050972480391 0.06219688 0.13663018 prediction 0.401360108527244 Functional Loss - HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118872181 chr5:118872184 nonsynonymous SNV 0.992 3 24 hm5C_associated_SNPs_98488 3 Likely benign Bifunctional peroxisomal enzyme deficiency RCV000361158.1
3875 chr21 36231782 36231782 1 + C T LUAD 36231780 + 36231760 36231800 41 GATGCACTTACTTCGAGGTTCTCGGGGCCCATCCACTGTGA GATGCACTTACTTCGAGGTTCTTGGGGCCCATCCACTGTGA < 41bp 0.813324406775745 0.612713487408158 0.31653154 0.40742204 prediction 0.401221838735175 Functional Loss - RUNX1 ENSG00000159216 CDS Human protein_coding chr21:36231780 chr21:36231782 nonsynonymous SNV 1.000 4 23 hm5C_associated_SNPs_98549 1 Pathogenic Familial platelet disorder with associated myeloid malignancy RCV000015550.25
3875 chr3 30713834 30713834 1 + G T LUSC 30713831 + 30713811 30713851 41 ACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACC ACCTCAAGAGCTCCAATATCCTCTTGAAGAACGACCTAACC < 41bp 0.700397328133845 0.315405649834151 0.44713482 0.0944753 prediction 0.400794656267689 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713831 chr3:30713834 nonsynonymous SNV 0.895 2 24 hm5C_associated_SNPs_98787 5 Uncertain significance Loeys-Dietz syndrome RCV000030544.2
3875 chr3 30713834 30713834 1 + G T LUSC 30713831 + 30713811 30713851 41 ACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACC ACCTCAAGAGCTCCAATATCCTCTTGAAGAACGACCTAACC < 41bp 0.700397328133845 0.315405649834151 0.44713482 0.0944753 prediction 0.400794656267689 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713831 chr3:30713834 nonsynonymous SNV 0.895 2 24 hm5C_associated_SNPs_98787 5 other not specified RCV000152009.2
3875 chr3 30713834 30713834 1 + G T LUSC 30713831 + 30713811 30713851 41 ACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACC ACCTCAAGAGCTCCAATATCCTCTTGAAGAACGACCTAACC < 41bp 0.700397328133845 0.315405649834151 0.44713482 0.0944753 prediction 0.400794656267689 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713831 chr3:30713834 nonsynonymous SNV 0.895 2 24 hm5C_associated_SNPs_98787 5 Uncertain significance Thoracic aortic aneurysm and aortic dissection RCV000249454.1
3875 chr3 30713834 30713834 1 + G T LUSC 30713831 + 30713811 30713851 41 ACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACC ACCTCAAGAGCTCCAATATCCTCTTGAAGAACGACCTAACC < 41bp 0.700397328133845 0.315405649834151 0.44713482 0.0944753 prediction 0.400794656267689 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713831 chr3:30713834 nonsynonymous SNV 0.895 2 24 hm5C_associated_SNPs_98787 5 Uncertain significance Aneurysm RCV000414949.1
3875 chr3 30713834 30713834 1 + G T LUSC 30713831 + 30713811 30713851 41 ACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACC ACCTCAAGAGCTCCAATATCCTCTTGAAGAACGACCTAACC < 41bp 0.700397328133845 0.315405649834151 0.44713482 0.0944753 prediction 0.400794656267689 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713831 chr3:30713834 nonsynonymous SNV 0.895 2 24 hm5C_associated_SNPs_98787 5 Uncertain significance Ascending aortic aneurysm RCV000414949.1
3875 chr3 30713833 30713833 1 + C T SKCM 30713831 + 30713811 30713851 41 ACCTCAAGAGCTCCAATATCCTCGTGAAGAACGACCTAACC ACCTCAAGAGCTCCAATATCCTTGTGAAGAACGACCTAACC < 41bp 0.700397328133845 0.412124321504326 0.44713482 0.26543257 prediction 0.400794656267689 Functional Loss - TGFBR2 ENSG00000163513 CDS Human protein_coding chr3:30713831 chr3:30713833 synonymous SNV . 0 23 hm5C_associated_SNPs_98788 1 Likely benign not specified RCV000432657.1
3875 chr15 65369531 65369531 1 + G T rs2946642 65369527 + 65369507 65369547 41 GCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACG GCGCGACGTGTTCCACAGTGCCGCTCTCTTCATCTGCGACG < 41bp 0.741651951164887 0.541301491177079 0.06042707 0.03162995 prediction 0.400700919975615 Functional Loss - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369527 chr15:65369531 synonymous SNV . 0 25 hm5C_associated_SNPs_98831 2 Benign not specified RCV000117310.3
3875 chr15 65369531 65369531 1 + G T rs2946642 65369527 + 65369507 65369547 41 GCGCGACGTGTTCCACAGTGCCGCGCTCTTCATCTGCGACG GCGCGACGTGTTCCACAGTGCCGCTCTCTTCATCTGCGACG < 41bp 0.741651951164887 0.541301491177079 0.06042707 0.03162995 prediction 0.400700919975615 Functional Loss - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65369527 chr15:65369531 synonymous SNV . 0 25 hm5C_associated_SNPs_98831 2 Benign Nemaline Myopathy, Dominant RCV000315819.1
3875 chr19 41920030 41920030 1 + C T rs34442879 41920028 + 41920008 41920048 41 AGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCA AGTGCCGCCGCCCTGGACAACATGGACCTGGTGTTTGGCCA < 41bp 0.858207105541298 0.657873590026001 0.49340174 0.72100013 prediction 0.400667031030594 Functional Loss - BCKDHA ENSG00000248098;ENSG00000255730 CDS Human other chr19:41920028 chr19:41920030 nonsynonymous SNV 0.969 4 23 hm5C_associated_SNPs_98848 2 other not specified RCV000079243.6
3875 chr19 41920030 41920030 1 + C T rs34442879 41920028 + 41920008 41920048 41 AGTGCCGCCGCCCTGGACAACACGGACCTGGTGTTTGGCCA AGTGCCGCCGCCCTGGACAACATGGACCTGGTGTTTGGCCA < 41bp 0.858207105541298 0.657873590026001 0.49340174 0.72100013 prediction 0.400667031030594 Functional Loss - BCKDHA ENSG00000248098;ENSG00000255730 CDS Human other chr19:41920028 chr19:41920030 nonsynonymous SNV 0.969 4 23 hm5C_associated_SNPs_98848 2 Likely benign Maple syrup urine disease RCV000295914.1
3875 chrX 123034511 123034511 1 + A C rs5956583 123034510 + 123034490 123034530 41 ATGCTCAGAAAGACAGTATGCAAGATGAGTCAAGTCAGACT ATGCTCAGAAAGACAGTATGCCAGATGAGTCAAGTCAGACT < 41bp 0.700288495895211 0.445556396958455 0.3959135 0.5369624 prediction 0.400576991790423 Functional Loss - XIAP ENSG00000101966 CDS Human protein_coding chrX:123034510 chrX:123034511 nonsynonymous SNV 0.626 1 22 hm5C_associated_SNPs_98900 2 Benign not specified RCV000249776.1
3875 chrX 123034511 123034511 1 + A C rs5956583 123034510 + 123034490 123034530 41 ATGCTCAGAAAGACAGTATGCAAGATGAGTCAAGTCAGACT ATGCTCAGAAAGACAGTATGCCAGATGAGTCAAGTCAGACT < 41bp 0.700288495895211 0.445556396958455 0.3959135 0.5369624 prediction 0.400576991790423 Functional Loss - XIAP ENSG00000101966 CDS Human protein_coding chrX:123034510 chrX:123034511 nonsynonymous SNV 0.626 1 22 hm5C_associated_SNPs_98900 2 Benign Lymphoproliferative syndrome RCV000328885.1
3875 chr3 122003411 122003411 1 + G A rs143738711 122003408 + 122003388 122003428 41 AAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCAC AAGCCATCCCGCAACACCATCGAAGAGGTGCGTTGCAGCAC < 41bp 0.700264562892996 0.43708639127688 0.9260812 0.8673526 prediction 0.400529125785992 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:122003408 chr3:122003411 synonymous SNV . 0 24 hm5C_associated_SNPs_98931 7 Benign not specified RCV000179295.2
3875 chr3 122003411 122003411 1 + G A rs143738711 122003408 + 122003388 122003428 41 AAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCAC AAGCCATCCCGCAACACCATCGAAGAGGTGCGTTGCAGCAC < 41bp 0.700264562892996 0.43708639127688 0.9260812 0.8673526 prediction 0.400529125785992 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:122003408 chr3:122003411 synonymous SNV . 0 24 hm5C_associated_SNPs_98931 7 Benign Hypocalcemia, autosomal dominant 1 RCV000228091.2
3875 chr3 122003411 122003411 1 + G A rs143738711 122003408 + 122003388 122003428 41 AAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCAC AAGCCATCCCGCAACACCATCGAAGAGGTGCGTTGCAGCAC < 41bp 0.700264562892996 0.43708639127688 0.9260812 0.8673526 prediction 0.400529125785992 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:122003408 chr3:122003411 synonymous SNV . 0 24 hm5C_associated_SNPs_98931 7 Benign Hypocalciuric hypercalcemia, familial, type 1 RCV000228091.2
3875 chr3 122003411 122003411 1 + G A rs143738711 122003408 + 122003388 122003428 41 AAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCAC AAGCCATCCCGCAACACCATCGAAGAGGTGCGTTGCAGCAC < 41bp 0.700264562892996 0.43708639127688 0.9260812 0.8673526 prediction 0.400529125785992 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:122003408 chr3:122003411 synonymous SNV . 0 24 hm5C_associated_SNPs_98931 7 Benign Hypoparathyroidism familial isolated RCV000261785.1
3875 chr3 122003411 122003411 1 + G A rs143738711 122003408 + 122003388 122003428 41 AAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCAC AAGCCATCCCGCAACACCATCGAAGAGGTGCGTTGCAGCAC < 41bp 0.700264562892996 0.43708639127688 0.9260812 0.8673526 prediction 0.400529125785992 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:122003408 chr3:122003411 synonymous SNV . 0 24 hm5C_associated_SNPs_98931 7 Benign Hypocalcemia RCV000267557.1
3875 chr3 122003411 122003411 1 + G A rs143738711 122003408 + 122003388 122003428 41 AAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCAC AAGCCATCCCGCAACACCATCGAAGAGGTGCGTTGCAGCAC < 41bp 0.700264562892996 0.43708639127688 0.9260812 0.8673526 prediction 0.400529125785992 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:122003408 chr3:122003411 synonymous SNV . 0 24 hm5C_associated_SNPs_98931 7 Benign Familial hypocalciuric hypercalcemia RCV000297045.1
3875 chr3 122003411 122003411 1 + G A rs143738711 122003408 + 122003388 122003428 41 AAGCCATCCCGCAACACCATCGAGGAGGTGCGTTGCAGCAC AAGCCATCCCGCAACACCATCGAAGAGGTGCGTTGCAGCAC < 41bp 0.700264562892996 0.43708639127688 0.9260812 0.8673526 prediction 0.400529125785992 Functional Loss - CASR ENSG00000036828 CDS Human protein_coding chr3:122003408 chr3:122003411 synonymous SNV . 0 24 hm5C_associated_SNPs_98931 7 Benign Neonatal severe hyperparathyroidism RCV000354197.1
3875 chr8 18258103 18258103 1 + G A rs1799930 18258100 + 18258080 18258120 41 ATACTTATTTACGCTTGAACCTCGAACAATTGAAGATTTTG ATACTTATTTACGCTTGAACCTCAAACAATTGAAGATTTTG < 41bp 0.770787195642626 0.570551757299518 0.8478905 0.5227181 prediction 0.400470876686216 Functional Loss - NAT2 ENSG00000156006 CDS Human protein_coding chr8:18258100 chr8:18258103 nonsynonymous SNV 0.011 3 24 hm5C_associated_SNPs_98966 2 drug response Slow acetylator due to N-acetyltransferase enzyme variant RCV000000758.1
3875 chr8 18258103 18258103 1 + G A rs1799930 18258100 + 18258080 18258120 41 ATACTTATTTACGCTTGAACCTCGAACAATTGAAGATTTTG ATACTTATTTACGCTTGAACCTCAAACAATTGAAGATTTTG < 41bp 0.770787195642626 0.570551757299518 0.8478905 0.5227181 prediction 0.400470876686216 Functional Loss - NAT2 ENSG00000156006 CDS Human protein_coding chr8:18258100 chr8:18258103 nonsynonymous SNV 0.011 3 24 hm5C_associated_SNPs_98966 2 drug response ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK RCV000417141.1
3875 chr4 981734 981734 1 + C T rs147490060 981737 - 981717 981757 41 AGACCCTGCCCGCCGCCCACCTGGTGGTGACAAGCTCCAGC AGACCCTGCCCGCCGCCCACCTGATGGTGACAAGCTCCAGC < 41bp 0.700212462253729 0.475822647211663 0.59291226 0.4037274 prediction 0.400424924507458 Functional Loss - IDUA ENSG00000127415 CDS Human protein_coding chr4:981737 chr4:981734 nonsynonymous SNV 0.887 2 24 hm5C_associated_SNPs_98993 2 Benign not specified RCV000400163.1
3875 chr4 981734 981734 1 + C T rs147490060 981737 - 981717 981757 41 AGACCCTGCCCGCCGCCCACCTGGTGGTGACAAGCTCCAGC AGACCCTGCCCGCCGCCCACCTGATGGTGACAAGCTCCAGC < 41bp 0.700212462253729 0.475822647211663 0.59291226 0.4037274 prediction 0.400424924507458 Functional Loss - IDUA ENSG00000127415 CDS Human protein_coding chr4:981737 chr4:981734 nonsynonymous SNV 0.887 2 24 hm5C_associated_SNPs_98993 2 Benign not provided RCV000435479.1
3875 chr10 43606745 43606745 1 + C A rs151148041 43606741 + 43606721 43606761 41 TCCTCTGGTGCCAACTGCAGCACGCTAGGGGTGGTCACCTC TCCTCTGGTGCCAACTGCAGCACGATAGGGGTGGTCACCTC < 41bp 0.480850828747641 0.854484775342732 0.35338295 0.4062781 prediction 0.708969550685464 Functional Gain - RET ENSG00000165731 CDS Human protein_coding chr10:43606741 chr10:43606745 nonsynonymous SNV 0.008 0 25 hm5C_associated_SNPs_99278 1 Likely benign Multiple endocrine neoplasia, type 2 RCV000475503.1
3875 chr3 46939575 46939575 1 + C A rs143863124 46939571 + 46939551 46939591 41 CATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAA CATGGACCTGCAGGCCATGCCTACAGACGCTGTGACCGCAA < 41bp 0.479251868476645 0.851913462381981 0.052235574 0.8825135 prediction 0.703826924763962 Functional Gain - PTH1R ENSG00000160801 CDS Human protein_coding chr3:46939571 chr3:46939575 synonymous SNV . 0 25 hm5C_associated_SNPs_99329 2 Likely benign Metaphyseal chondrodysplasia RCV000281139.1
3875 chr3 46939575 46939575 1 + C A rs143863124 46939571 + 46939551 46939591 41 CATGGACCTGCAGGCCATGCCTACCGACGCTGTGACCGCAA CATGGACCTGCAGGCCATGCCTACAGACGCTGTGACCGCAA < 41bp 0.479251868476645 0.851913462381981 0.052235574 0.8825135 prediction 0.703826924763962 Functional Gain - PTH1R ENSG00000160801 CDS Human protein_coding chr3:46939571 chr3:46939575 synonymous SNV . 0 25 hm5C_associated_SNPs_99329 2 Likely benign Chondrodysplasia RCV000402694.1
3875 chrX 99919896 99919896 1 + C A rs150552508 99919892 + 99919872 99919912 41 TACCACCTGGAAGGTGATCGCAGCCGAATCTGCATGGAAGA TACCACCTGGAAGGTGATCGCAGCAGAATCTGCATGGAAGA < 41bp 0.518095697029051 0.863648780767814 0.47422627 0.67367876 prediction 0.691106167477526 Functional Gain - SRPX2 ENSG00000102359 CDS Human protein_coding chrX:99919892 chrX:99919896 synonymous SNV . 0 25 hm5C_associated_SNPs_99487 2 Benign not specified RCV000189546.2
3875 chrX 99919896 99919896 1 + C A rs150552508 99919892 + 99919872 99919912 41 TACCACCTGGAAGGTGATCGCAGCCGAATCTGCATGGAAGA TACCACCTGGAAGGTGATCGCAGCAGAATCTGCATGGAAGA < 41bp 0.518095697029051 0.863648780767814 0.47422627 0.67367876 prediction 0.691106167477526 Functional Gain - SRPX2 ENSG00000102359 CDS Human protein_coding chrX:99919892 chrX:99919896 synonymous SNV . 0 25 hm5C_associated_SNPs_99487 2 Benign Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked RCV000467339.1
3875 chr20 30408160 30408160 1 + C A rs121908108 30408156 + 30408136 30408176 41 CGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCAG CGGAGGGCAGTGCTGGGCCCCCGGAAGCCCTGCCCCAGCAG < 41bp 0.509031429419302 0.853405909467193 0.5359737 0.8337058 prediction 0.688748960095781 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408156 chr20:30408160 nonsynonymous SNV 0.353 3 25 hm5C_associated_SNPs_99517 3 Pathogenic Cardiomyopathy, hypertrophic, midventricular, digenic RCV000004466.2
3875 chr20 30408160 30408160 1 + C A rs121908108 30408156 + 30408136 30408176 41 CGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCAG CGGAGGGCAGTGCTGGGCCCCCGGAAGCCCTGCCCCAGCAG < 41bp 0.509031429419302 0.853405909467193 0.5359737 0.8337058 prediction 0.688748960095781 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408156 chr20:30408160 nonsynonymous SNV 0.353 3 25 hm5C_associated_SNPs_99517 3 Likely benign not specified RCV000154782.4
3875 chr20 30408160 30408160 1 + C A rs121908108 30408156 + 30408136 30408176 41 CGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCAG CGGAGGGCAGTGCTGGGCCCCCGGAAGCCCTGCCCCAGCAG < 41bp 0.509031429419302 0.853405909467193 0.5359737 0.8337058 prediction 0.688748960095781 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408156 chr20:30408160 nonsynonymous SNV 0.353 3 25 hm5C_associated_SNPs_99517 3 Benign Familial hypertrophic cardiomyopathy 1 RCV000467194.1
3875 chr16 89985918 89985918 1 + C A rs1805006 89985914 + 89985894 89985934 41 CATCTGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGA CATCTGCTGCCTGGCCTTGTCGGAACTGCTGGTGAGCGGGA < 41bp 0.489021952370521 0.843498566753344 0.31993443 0.66173285 prediction 0.686997133506688 Functional Gain - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985914 chr16:89985918 nonsynonymous SNV 0.816 4 25 hm5C_associated_SNPs_99558 3 other Cutaneous malignant melanoma 5 RCV000015380.5
3875 chr16 89985918 89985918 1 + C A rs1805006 89985914 + 89985894 89985934 41 CATCTGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGA CATCTGCTGCCTGGCCTTGTCGGAACTGCTGGTGAGCGGGA < 41bp 0.489021952370521 0.843498566753344 0.31993443 0.66173285 prediction 0.686997133506688 Functional Gain - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985914 chr16:89985918 nonsynonymous SNV 0.816 4 25 hm5C_associated_SNPs_99558 3 Likely benign Malignant Melanoma Susceptibility RCV000375124.1
3875 chr16 89985918 89985918 1 + C A rs1805006 89985914 + 89985894 89985934 41 CATCTGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGA CATCTGCTGCCTGGCCTTGTCGGAACTGCTGGTGAGCGGGA < 41bp 0.489021952370521 0.843498566753344 0.31993443 0.66173285 prediction 0.686997133506688 Functional Gain - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985914 chr16:89985918 nonsynonymous SNV 0.816 4 25 hm5C_associated_SNPs_99558 3 Likely pathogenic not provided RCV000413549.1
3875 chr4 187209702 187209702 1 + G T rs5971 187209706 - 187209686 187209726 41 GACCACGTTGGTGTAAACACCTGGCCGCTCCCTTTGAGCAC GACCACGTTGGTGTAAACACCTGGACGCTCCCTTTGAGCAC < 41bp 0.506143276372651 0.844587614649751 0.21259376 0.09920859 prediction 0.676888676554198 Functional Gain - F11 ENSG00000088926 CDS Human protein_coding chr4:187209706 chr4:187209702 synonymous SNV . 0 25 hm5C_associated_SNPs_99765 2 Benign not specified RCV000241920.1
3875 chr4 187209702 187209702 1 + G T rs5971 187209706 - 187209686 187209726 41 GACCACGTTGGTGTAAACACCTGGCCGCTCCCTTTGAGCAC GACCACGTTGGTGTAAACACCTGGACGCTCCCTTTGAGCAC < 41bp 0.506143276372651 0.844587614649751 0.21259376 0.09920859 prediction 0.676888676554198 Functional Gain - F11 ENSG00000088926 CDS Human protein_coding chr4:187209706 chr4:187209702 synonymous SNV . 0 25 hm5C_associated_SNPs_99765 2 Likely benign Hereditary factor XI deficiency disease RCV000374661.1
3875 chr11 34982013 34982013 1 + C A rs139052284 34982009 + 34981989 34982029 41 CGCAATATTCTGGAAAAACACTCACTGGATGCTAGCCAGGG CGCAATATTCTGGAAAAACACTCAATGGATGCTAGCCAGGG < 41bp 0.43384091854191 0.8346142323612 0.033336908 0.3219275 prediction 0.6692284647224 Functional Gain - PDHX ENSG00000110435 CDS Human protein_coding chr11:34982009 chr11:34982013 nonsynonymous SNV 0.320 3 25 hm5C_associated_SNPs_99926 1 Uncertain significance not specified RCV000200463.2
3875 chr2 228110691 228110691 1 + C A rs115324397 228110687 + 228110667 228110707 41 CAGGGCACCCCAGGCAATACCGGGCCTTACGGACTTGTCGG CAGGGCACCCCAGGCAATACCGGGACTTACGGACTTGTCGG < 41bp 0.480185133906924 0.833754239970491 0.91859317 0.93261707 prediction 0.667508479940981 Functional Gain - COL4A3 ENSG00000169031 CDS Human protein_coding chr2:228110687 chr2:228110691 nonsynonymous SNV 0.009 4 25 hm5C_associated_SNPs_99970 1 Benign not specified RCV000248076.1
3875 chr13 33635027 33635027 1 + C A UCEC 33635023 + 33635003 33635043 41 CCCTGGACTGGGCCCTGATTCTCCCTCTGGGTAACCAGTCC CCCTGGACTGGGCCCTGATTCTCCATCTGGGTAACCAGTCC < 41bp 0.579835880424534 0.906639512546801 0.057867408 0.968565 prediction 0.653607264244533 Functional Gain - KL ENSG00000133116 CDS Human protein_coding chr13:33635023 chr13:33635027 nonsynonymous SNV 0.620 4 25 hm5C_associated_SNPs_100322 1 Uncertain significance Tumoral calcinosis, familial, hyperphosphatemic RCV000386046.1
3875 chr1 35250676 35250676 1 + C A rs150245955 35250672 + 35250652 35250692 41 TACCGTGAGGAGCGGGAGCGCCGGCACCGCCAGAAACACGG TACCGTGAGGAGCGGGAGCGCCGGAACCGCCAGAAACACGG < 41bp 0.533624408663357 0.860218242235291 0.7581568 0.87635183 prediction 0.653187667143868 Functional Gain - GJB3 ENSG00000188910 CDS Human protein_coding chr1:35250672 chr1:35250676 nonsynonymous SNV 0.022 2 25 hm5C_associated_SNPs_100334 1 other not specified RCV000150739.2
3875 chr15 89859994 89859994 1 + C A rs3087374 89859990 + 89859970 89860010 41 CTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCA CTCCAGGCAGTGCTATGGTCCAGGATGGCTTCGTTTTTCCA < 41bp 0.512718538180009 0.837167668802986 0.45104054 0.6658772 prediction 0.648898261245953 Functional Gain - POLG ENSG00000140521 CDS Human protein_coding chr15:89859990 chr15:89859994 nonsynonymous SNV 0.998 2 25 hm5C_associated_SNPs_100439 4 Benign Mitochondrial diseases RCV000020480.1
3875 chr15 89859994 89859994 1 + C A rs3087374 89859990 + 89859970 89860010 41 CTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCA CTCCAGGCAGTGCTATGGTCCAGGATGGCTTCGTTTTTCCA < 41bp 0.512718538180009 0.837167668802986 0.45104054 0.6658772 prediction 0.648898261245953 Functional Gain - POLG ENSG00000140521 CDS Human protein_coding chr15:89859990 chr15:89859994 nonsynonymous SNV 0.998 2 25 hm5C_associated_SNPs_100439 4 Benign not specified RCV000118022.3
3875 chr15 89859994 89859994 1 + C A rs3087374 89859990 + 89859970 89860010 41 CTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCA CTCCAGGCAGTGCTATGGTCCAGGATGGCTTCGTTTTTCCA < 41bp 0.512718538180009 0.837167668802986 0.45104054 0.6658772 prediction 0.648898261245953 Functional Gain - POLG ENSG00000140521 CDS Human protein_coding chr15:89859990 chr15:89859994 nonsynonymous SNV 0.998 2 25 hm5C_associated_SNPs_100439 4 Likely benign Fanconi anemia RCV000291582.1
3875 chr15 89859994 89859994 1 + C A rs3087374 89859990 + 89859970 89860010 41 CTCCAGGCAGTGCTATGGTCCAGGCTGGCTTCGTTTTTCCA CTCCAGGCAGTGCTATGGTCCAGGATGGCTTCGTTTTTCCA < 41bp 0.512718538180009 0.837167668802986 0.45104054 0.6658772 prediction 0.648898261245953 Functional Gain - POLG ENSG00000140521 CDS Human protein_coding chr15:89859990 chr15:89859994 nonsynonymous SNV 0.998 2 25 hm5C_associated_SNPs_100439 4 Likely benign POLG-Related Spectrum Disorders RCV000327842.1
3875 chr19 54618999 54618999 1 + C A rs45619231 54618995 + 54618975 54619015 41 GGACGTGAGTCCCTTTCCTCCTCGCGGCTTACCGCCTCTCT GGACGTGAGTCCCTTTCCTCCTCGAGGCTTACCGCCTCTCT < 41bp 0.4851566818495 0.822888567371762 0.4987687 0.9021948 prediction 0.645777134743523 Functional Gain - PRPF31;TFPT ENSG00000105618;ENSG00000105619 UTR5 Human other chr19:54618995 chr19:54618999 . . 0 25 hm5C_associated_SNPs_100519 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000302480.1
3875 chr19 6751293 6751293 1 + T G rs1049232 6751290 + 6751270 6751310 41 GCCACGGGGAGCCCCAGGACCTATGCACTTTATTTCTGACC GCCACGGGGAGCCCCAGGACCTAGGCACTTTATTTCTGACC < 41bp 0.472423219673653 0.820770124628759 0.05189264 0.19183862 prediction 0.641540249257518 Functional Gain - TRIP10 ENSG00000125733 CDS Human protein_coding chr19:6751290 chr19:6751293 nonsynonymous SNV 0.995 0 24 hm5C_associated_SNPs_100641 1 Benign not specified RCV000454694.1
3875 chr5 161277843 161277843 1 + C A rs113886269 161277839 + 161277819 161277859 41 GAGGAAAAGTCCAGGTCTGTCTGACTGTCTTTGGGCCTGGA GAGGAAAAGTCCAGGTCTGTCTGAATGTCTTTGGGCCTGGA < 41bp 0.566996028260035 0.884756585044103 0.14446515 0.19469425 prediction 0.635521113568136 Functional Gain - GABRA1 ENSG00000022355 CDS Human protein_coding chr5:161277839 chr5:161277843 nonsynonymous SNV 0.987 0 25 hm5C_associated_SNPs_100832 1 other not specified RCV000187498.3
3875 chr8 145583505 145583505 1 + C A rs117500243 145583501 + 145583481 145583521 41 ATTCTGTGGCCTTCTTAGCACTGGCCTTTGTGCTGGCACTG ATTCTGTGGCCTTCTTAGCACTGGACTTTGTGCTGGCACTG < 41bp 0.559072947925352 0.87438246916952 0.12884 0.1294933 prediction 0.630619042488335 Functional Gain - SLC52A2 ENSG00000185803 CDS Human protein_coding chr8:145583501 chr8:145583505 nonsynonymous SNV 0.001 2 25 hm5C_associated_SNPs_100983 1 Uncertain significance not specified RCV000414334.1
3875 chr7 127896244 127896244 1 + C A rs76601079 127896240 + 127896220 127896260 41 TTAGCAGGTGGTCCTGAGACCTGACAAGCACTGCTAGGCGA TTAGCAGGTGGTCCTGAGACCTGAAAAGCACTGCTAGGCGA < 41bp 0.524604755962379 0.838871269075438 0.17441145 0.24708003 prediction 0.628533026226117 Functional Gain - LEP ENSG00000174697 UTR3 Human protein_coding chr7:127896240 chr7:127896244 . . 0 25 hm5C_associated_SNPs_101035 2 Uncertain significance Leptin deficiency or dysfunction RCV000268906.1
3875 chr7 127896244 127896244 1 + C A rs76601079 127896240 + 127896220 127896260 41 TTAGCAGGTGGTCCTGAGACCTGACAAGCACTGCTAGGCGA TTAGCAGGTGGTCCTGAGACCTGAAAAGCACTGCTAGGCGA < 41bp 0.524604755962379 0.838871269075438 0.17441145 0.24708003 prediction 0.628533026226117 Functional Gain - LEP ENSG00000174697 UTR3 Human protein_coding chr7:127896240 chr7:127896244 . . 0 25 hm5C_associated_SNPs_101035 2 Uncertain significance Monogenic Non-Syndromic Obesity RCV000326220.1
3875 chr17 73512884 73512884 1 + T G rs8079373 73512882 + 73512862 73512902 41 AGAAGCTGCCCCAGCGCTCGCATGGCCCCAAGGACTTTCTG AGAAGCTGCCCCAGCGCTCGCAGGGCCCCAAGGACTTTCTG < 41bp 0.536289166086667 0.84596534766462 0.51866114 0.9220904 prediction 0.619352363155905 Functional Gain - TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73512882 chr17:73512884 nonsynonymous SNV 1.000 2 23 hm5C_associated_SNPs_101313 2 Benign not specified RCV000082835.7
3875 chr17 73512884 73512884 1 + T G rs8079373 73512882 + 73512862 73512902 41 AGAAGCTGCCCCAGCGCTCGCATGGCCCCAAGGACTTTCTG AGAAGCTGCCCCAGCGCTCGCAGGGCCCCAAGGACTTTCTG < 41bp 0.536289166086667 0.84596534766462 0.51866114 0.9220904 prediction 0.619352363155905 Functional Gain - TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73512882 chr17:73512884 nonsynonymous SNV 1.000 2 23 hm5C_associated_SNPs_101313 2 Benign Pontoneocerebellar hypoplasia RCV000352813.1
3875 chr4 88583774 88583774 1 + C A rs141979823 88583770 + 88583750 88583790 41 TCAGAGGAAGATGACAGAAGCGAGCTTGATGACAACAACAC TCAGAGGAAGATGACAGAAGCGAGATTGATGACAACAACAC < 41bp 0.560426464866547 0.869774605149173 0.37687272 0.8396449 prediction 0.618696280565253 Functional Gain - DMP1 ENSG00000152592 CDS Human protein_coding chr4:88583770 chr4:88583774 nonsynonymous SNV 0.001 1 25 hm5C_associated_SNPs_101343 1 Uncertain significance Hypophosphatemic Rickets, Recessive RCV000359946.1
3875 chr14 74416996 74416996 1 + G T rs78801603 74417000 - 74416980 74417020 41 CGTCGCACTCAGAACTCCCGCAGGCCCACCTACGTAGTGCG CGTCGCACTCAGAACTCCCGCAGGACCACCTACGTAGTGCG < 41bp 0.504223102190429 0.812644436943182 0.87510085 0.90223444 prediction 0.616842669505506 Functional Gain - COQ6;FAM161B ENSG00000119723;ENSG00000156050 UTR5 Human other chr14:74417000 chr14:74416996 . . 0 25 hm5C_associated_SNPs_101398 1 Benign not specified RCV000124551.1
3875 chr2 219679662 219679662 1 + C A rs140842830 219679658 + 219679638 219679678 41 TCCAGAAGTACAAGGTGGTCCTGGCCCCGGAGACGGGGGAG TCCAGAAGTACAAGGTGGTCCTGGACCCGGAGACGGGGGAG < 41bp 0.577317340809812 0.884295737079171 0.69849116 0.8458692 prediction 0.613956792538717 Functional Gain - CYP27A1 ENSG00000135929 CDS Human protein_coding chr2:219679658 chr2:219679662 nonsynonymous SNV 0.513 1 25 hm5C_associated_SNPs_101487 1 Benign not specified RCV000180530.1
3875 chr20 61461898 61461898 1 + C A rs73598379 61461894 + 61461874 61461914 41 GAAGGGCAGCATGGGAGACCCCGGCCTTCCAGGCCCCCAGG GAAGGGCAGCATGGGAGACCCCGGACTTCCAGGCCCCCAGG < 41bp 0.575236694806001 0.881664685411306 0.7643945 0.9083357 prediction 0.612855981210609 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61461894 chr20:61461898 synonymous SNV . 0 25 hm5C_associated_SNPs_101518 1 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000298470.1
3875 chrX 595475 595475 1 + C A rs193922467 595471 + 595451 595491 41 CTGGAGCAGCTGAACGAGCTCGAGCGACTCTTCGACGAGAC CTGGAGCAGCTGAACGAGCTCGAGAGACTCTTCGACGAGAC < 41bp 0.590359270363609 0.894852801565145 0.78464544 0.8889761 prediction 0.608987062403072 Functional Gain - SHOX ENSG00000185960 CDS Human protein_coding chrX:595471 chrX:595475 synonymous SNV . 0 25 hm5C_associated_SNPs_101647 1 Likely benign Short stature, idiopathic, X-linked RCV000030454.1
3875 chr19 47259533 47259533 1 + C A rs28937900 47259529 + 47259509 47259549 41 CTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGG CTGCTCCGCGCGCTGGGCATCCGCATAGTGAGCTGGGAAGG < 41bp 0.41807871994495 0.800693190071716 0.2723285 0.21289626 prediction 0.601386380143432 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259529 chr19:47259533 nonsynonymous SNV 0.993 2 25 hm5C_associated_SNPs_101900 7 Pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 RCV000004442.4
3875 chr19 47259533 47259533 1 + C A rs28937900 47259529 + 47259509 47259549 41 CTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGG CTGCTCCGCGCGCTGGGCATCCGCATAGTGAGCTGGGAAGG < 41bp 0.41807871994495 0.800693190071716 0.2723285 0.21289626 prediction 0.601386380143432 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259529 chr19:47259533 nonsynonymous SNV 0.993 2 25 hm5C_associated_SNPs_101900 7 Pathogenic not provided RCV000082182.7
3875 chr19 47259533 47259533 1 + C A rs28937900 47259529 + 47259509 47259549 41 CTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGG CTGCTCCGCGCGCTGGGCATCCGCATAGTGAGCTGGGAAGG < 41bp 0.41807871994495 0.800693190071716 0.2723285 0.21289626 prediction 0.601386380143432 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259529 chr19:47259533 nonsynonymous SNV 0.993 2 25 hm5C_associated_SNPs_101900 7 Pathogenic Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 RCV000178341.2
3875 chr19 47259533 47259533 1 + C A rs28937900 47259529 + 47259509 47259549 41 CTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGG CTGCTCCGCGCGCTGGGCATCCGCATAGTGAGCTGGGAAGG < 41bp 0.41807871994495 0.800693190071716 0.2723285 0.21289626 prediction 0.601386380143432 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259529 chr19:47259533 nonsynonymous SNV 0.993 2 25 hm5C_associated_SNPs_101900 7 Pathogenic Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 RCV000178342.2
3875 chr19 47259533 47259533 1 + C A rs28937900 47259529 + 47259509 47259549 41 CTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGG CTGCTCCGCGCGCTGGGCATCCGCATAGTGAGCTGGGAAGG < 41bp 0.41807871994495 0.800693190071716 0.2723285 0.21289626 prediction 0.601386380143432 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259529 chr19:47259533 nonsynonymous SNV 0.993 2 25 hm5C_associated_SNPs_101900 7 Likely pathogenic Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 RCV000226653.1
3875 chr19 47259533 47259533 1 + C A rs28937900 47259529 + 47259509 47259549 41 CTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGG CTGCTCCGCGCGCTGGGCATCCGCATAGTGAGCTGGGAAGG < 41bp 0.41807871994495 0.800693190071716 0.2723285 0.21289626 prediction 0.601386380143432 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259529 chr19:47259533 nonsynonymous SNV 0.993 2 25 hm5C_associated_SNPs_101900 7 Pathogenic Walker-Warburg congenital muscular dystrophy RCV000231711.2
3875 chr19 47259533 47259533 1 + C A rs28937900 47259529 + 47259509 47259549 41 CTGCTCCGCGCGCTGGGCATCCGCCTAGTGAGCTGGGAAGG CTGCTCCGCGCGCTGGGCATCCGCATAGTGAGCTGGGAAGG < 41bp 0.41807871994495 0.800693190071716 0.2723285 0.21289626 prediction 0.601386380143432 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259529 chr19:47259533 nonsynonymous SNV 0.993 2 25 hm5C_associated_SNPs_101900 7 Pathogenic Muscular dystrophy-dystroglycanopathy RCV000503787.1
3875 chr9 130965795 130965795 1 + C A rs61757224 130965791 + 130965771 130965811 41 GATCTCATCCCGCTGGTCAACCGGCTGCAAGACGCCTTCTC GATCTCATCCCGCTGGTCAACCGGATGCAAGACGCCTTCTC < 41bp 0.568512228233642 0.868465892439854 0.88620824 0.89875746 prediction 0.599907328412423 Functional Gain - DNM1 ENSG00000106976 CDS Human protein_coding chr9:130965791 chr9:130965795 nonsynonymous SNV 0.423 2 25 hm5C_associated_SNPs_101950 1 Benign not specified RCV000435986.1
3875 chr11 61165269 61165269 1 + C A rs11230683 61165265 + 61165245 61165285 41 GGTACAAAGGGAAACCTCTGCCAGCGAAAGATGCCGCTCAG GGTACAAAGGGAAACCTCTGCCAGAGAAAGATGCCGCTCAG < 41bp 0.40830086915784 0.79987768267709 0.31255794 0.67342615 prediction 0.59975536535418 Functional Gain - TMEM216 ENSG00000187049 CDS Human protein_coding chr11:61165265 chr11:61165269 synonymous SNV . 0 25 hm5C_associated_SNPs_101956 1 Benign not specified RCV000353548.1
3875 chr14 74416832 74416832 1 + G T rs111833521 74416836 - 74416816 74416856 41 AGGCTGCCCTGGAAGCCAACCAGACGCCAAAGCTAGAAAGG AGGCTGCCCTGGAAGCCAACCAGAAGCCAAAGCTAGAAAGG < 41bp 0.420919858864934 0.799304458410222 0.7490527 0.7760701 prediction 0.598608916820444 Functional Gain - COQ6;FAM161B ENSG00000119723;ENSG00000156050 CDS Human other chr14:74416836 chr14:74416832 nonsynonymous SNV 0.002 1 25 hm5C_associated_SNPs_101996 1 Benign not specified RCV000124549.1
3875 chr15 72638562 72638562 1 + C G rs201497629 72638561 + 72638541 72638581 41 GCCCAACCCTCCACCTCCCCCCCGAAAACCCTTACCAGAGC GCCCAACCCTCCACCTCCCCCGCGAAAACCCTTACCAGAGC < 41bp 0.49719422148211 0.798500468398431 0.06170836 0.35730252 prediction 0.597000936796862 Functional Gain - HEXA ENSG00000261460 ncRNA_exonic Human antisense chr15:72638561 chr15:72638562 . . 0 22 hm5C_associated_SNPs_102045 1 Uncertain significance Tay-Sachs disease RCV000345918.1
3875 chr3 183853021 183853021 1 + T G rs187117854 183853018 + 183852998 183853038 41 CCGGGATCAACCTCAGACCCCTGTGGGCTCCCGGGGAAGAC CCGGGATCAACCTCAGACCCCTGGGGGCTCCCGGGGAAGAC < 41bp 0.591209432775308 0.88762008254296 0.0870004 0.34478348 prediction 0.592821299535304 Functional Gain - EIF2B5 ENSG00000272721 ncRNA_exonic Human antisense chr3:183853018 chr3:183853021 . . 0 24 hm5C_associated_SNPs_102197 1 Uncertain significance Leukoencephalopathy with vanishing white matter RCV000334073.1
3875 chr1 156616814 156616814 1 + C G rs115373136 156616813 + 156616793 156616833 41 GTCAAGGTGAACGAGGCCTACCGGTTCCGCGTGGCACTGCC GTCAAGGTGAACGAGGCCTACGGGTTCCGCGTGGCACTGCC < 41bp 0.496238859435252 0.795759980792578 0.16454956 0.36187422 prediction 0.591519961585156 Functional Gain - BCAN ENSG00000132692 CDS Human protein_coding chr1:156616813 chr1:156616814 nonsynonymous SNV 0.992 3 22 hm5C_associated_SNPs_102251 1 Benign not specified RCV000455522.1
3875 chr8 11566352 11566352 1 + C A rs573733348 11566348 + 11566328 11566368 41 GGGCGCGTCCTGGGCCGCAGCCGCCGCCGCCTCCGCCGGCC GGGCGCGTCCTGGGCCGCAGCCGCAGCCGCCTCCGCCGGCC < 41bp 0.59172726678775 0.887092930526829 0.42675537 0.5069436 prediction 0.590731327478156 Functional Gain - GATA4 ENSG00000136574 CDS Human protein_coding chr8:11566348 chr8:11566352 synonymous SNV . 0 25 hm5C_associated_SNPs_102282 1 Likely benign Atrioventricular septal defect 4 RCV000475762.1
3875 chr17 73269698 73269698 1 + A C rs148372053 73269700 - 73269680 73269720 41 GTACGGAGATACAAGGGCCTCATGGACTGTGCCAAGCAGGT GTACGGAGATACAAGGGCCTCAGGGACTGTGCCAAGCAGGT < 41bp 0.470098953889661 0.795152769106593 0.18944469 0.77610147 prediction 0.590305538213187 Functional Gain - SLC25A19 ENSG00000125454 CDS Human protein_coding chr17:73269700 chr17:73269698 nonsynonymous SNV 0.003 0 23 hm5C_associated_SNPs_102307 2 Uncertain significance Amish lethal microcephaly RCV000340152.1
3875 chr17 73269698 73269698 1 + A C rs148372053 73269700 - 73269680 73269720 41 GTACGGAGATACAAGGGCCTCATGGACTGTGCCAAGCAGGT GTACGGAGATACAAGGGCCTCAGGGACTGTGCCAAGCAGGT < 41bp 0.470098953889661 0.795152769106593 0.18944469 0.77610147 prediction 0.590305538213187 Functional Gain - SLC25A19 ENSG00000125454 CDS Human protein_coding chr17:73269700 chr17:73269698 nonsynonymous SNV 0.003 0 23 hm5C_associated_SNPs_102307 2 other not specified RCV000388085.1
3875 chr2 98330052 98330052 1 + C A rs2276645 98330048 + 98330028 98330068 41 GGAAATAGGTTAGTTTCAGACAAGCCTGCTTGCCGGAGCTC GGAAATAGGTTAGTTTCAGACAAGACTGCTTGCCGGAGCTC < 41bp 0.447279055782535 0.794275007258524 0.21547171 0.27902263 prediction 0.588550014517049 Functional Gain - ZAP70 ENSG00000115085 UTR5 Human protein_coding chr2:98330048 chr2:98330052 . . 0 25 hm5C_associated_SNPs_102370 1 Benign Severe Combined Immune Deficiency RCV000357744.1
3875 chr11 117871731 117871731 1 + C A rs141609122 117871727 + 117871707 117871747 41 CGTGCCATCCAGAGTCATCTCAGCCCTGCCTTTCTCTGGAG CGTGCCATCCAGAGTCATCTCAGCACTGCCTTTCTCTGGAG < 41bp 0.565227088277759 0.857486495324195 0.44023055 0.46471652 prediction 0.584518814092871 Functional Gain - IL10RA ENSG00000110324 UTR3 Human protein_coding chr11:117871727 chr11:117871731 . . 0 25 hm5C_associated_SNPs_102536 1 Uncertain significance Inflammatory bowel disease RCV000278255.1
3875 chr17 7577517 7577517 1 + A C BRCA 7577519 - 7577499 7577539 41 CGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAG CGGAGGCCCATCCTCACCATCAGCACACTGGAAGACTCCAG < 41bp 0.49805307380652 0.790234378190027 0.07379457 0.17679352 prediction 0.580468756380053 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577519 chr17:7577517 nonsynonymous SNV 0.970 5 23 hm5C_associated_SNPs_102724 7 Likely pathogenic Chronic lymphocytic leukemia RCV000417507.1
3875 chr17 7577517 7577517 1 + A C BRCA 7577519 - 7577499 7577539 41 CGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAG CGGAGGCCCATCCTCACCATCAGCACACTGGAAGACTCCAG < 41bp 0.49805307380652 0.790234378190027 0.07379457 0.17679352 prediction 0.580468756380053 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577519 chr17:7577517 nonsynonymous SNV 0.970 5 23 hm5C_associated_SNPs_102724 7 Likely pathogenic Oesophageal carcinoma RCV000420747.1
3875 chr17 7577517 7577517 1 + A C BRCA 7577519 - 7577499 7577539 41 CGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAG CGGAGGCCCATCCTCACCATCAGCACACTGGAAGACTCCAG < 41bp 0.49805307380652 0.790234378190027 0.07379457 0.17679352 prediction 0.580468756380053 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577519 chr17:7577517 nonsynonymous SNV 0.970 5 23 hm5C_associated_SNPs_102724 7 Likely pathogenic Pancreatic adenocarcinoma RCV000423148.1
3875 chr17 7577517 7577517 1 + A C BRCA 7577519 - 7577499 7577539 41 CGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAG CGGAGGCCCATCCTCACCATCAGCACACTGGAAGACTCCAG < 41bp 0.49805307380652 0.790234378190027 0.07379457 0.17679352 prediction 0.580468756380053 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577519 chr17:7577517 nonsynonymous SNV 0.970 5 23 hm5C_associated_SNPs_102724 7 Likely pathogenic Adenocarcinoma of lung RCV000428170.1
3875 chr17 7577517 7577517 1 + A C BRCA 7577519 - 7577499 7577539 41 CGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAG CGGAGGCCCATCCTCACCATCAGCACACTGGAAGACTCCAG < 41bp 0.49805307380652 0.790234378190027 0.07379457 0.17679352 prediction 0.580468756380053 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577519 chr17:7577517 nonsynonymous SNV 0.970 5 23 hm5C_associated_SNPs_102724 7 Likely pathogenic Neoplasm of the breast RCV000430544.1
3875 chr17 7577517 7577517 1 + A C BRCA 7577519 - 7577499 7577539 41 CGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAG CGGAGGCCCATCCTCACCATCAGCACACTGGAAGACTCCAG < 41bp 0.49805307380652 0.790234378190027 0.07379457 0.17679352 prediction 0.580468756380053 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577519 chr17:7577517 nonsynonymous SNV 0.970 5 23 hm5C_associated_SNPs_102724 7 Likely pathogenic Glioblastoma RCV000441277.1
3875 chr17 7577517 7577517 1 + A C BRCA 7577519 - 7577499 7577539 41 CGGAGGCCCATCCTCACCATCATCACACTGGAAGACTCCAG CGGAGGCCCATCCTCACCATCAGCACACTGGAAGACTCCAG < 41bp 0.49805307380652 0.790234378190027 0.07379457 0.17679352 prediction 0.580468756380053 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577519 chr17:7577517 nonsynonymous SNV 0.970 5 23 hm5C_associated_SNPs_102724 7 Likely pathogenic Neoplasm of brain RCV000441504.1
3875 chr16 4387757 4387757 1 + T G rs114705511 4387754 + 4387734 4387774 41 GCTCCTGGGTGCTGAAGCCTCGCTCCTGTCTGTCCCCCACC GCTCCTGGGTGCTGAAGCCTCGCGCCTGTCTGTCCCCCACC < 41bp 0.411876552348979 0.789530720711365 0.20913523 0.38224578 prediction 0.57906144142273 Functional Gain - GLIS2 ENSG00000262712 ncRNA_exonic Human sense_intronic chr16:4387754 chr16:4387757 . . 0 24 hm5C_associated_SNPs_102782 1 Likely benign Nephronophthisis RCV000395371.1
3875 chr10 75671296 75671296 1 + C A rs2227555 75671292 + 75671272 75671312 41 TTCCTTTGCAGAGCCGCCGTCTAGCGCCCCGACCTCGCCAC TTCCTTTGCAGAGCCGCCGTCTAGAGCCCCGACCTCGCCAC < 41bp 0.593666115452184 0.883160770730089 0.35806376 0.4261498 prediction 0.57898931055581 Functional Gain - PLAU;C10orf55 ENSG00000122861;ENSG00000222047 UTR5;UTR3 Human other chr10:75671292 chr10:75671296 . . 0 25 hm5C_associated_SNPs_102788 1 Benign Quebec platelet disorder RCV000299746.1
3875 chr1 64104434 64104434 1 + C A rs200407907 64104430 + 64104410 64104450 41 TTTTGGGAATTTGATGGACGCGAGCAAACTGTCCCTTTGTG TTTTGGGAATTTGATGGACGCGAGAAAACTGTCCCTTTGTG < 41bp 0.383891617679871 0.788852634657671 0.6406379 0.8127621 prediction 0.577705269315341 Functional Gain - PGM1 ENSG00000079739 CDS Human protein_coding chr1:64104430 chr1:64104434 nonsynonymous SNV 0.999 2 25 hm5C_associated_SNPs_102846 3 Uncertain significance not specified RCV000239180.1
3875 chr1 64104434 64104434 1 + C A rs200407907 64104430 + 64104410 64104450 41 TTTTGGGAATTTGATGGACGCGAGCAAACTGTCCCTTTGTG TTTTGGGAATTTGATGGACGCGAGAAAACTGTCCCTTTGTG < 41bp 0.383891617679871 0.788852634657671 0.6406379 0.8127621 prediction 0.577705269315341 Functional Gain - PGM1 ENSG00000079739 CDS Human protein_coding chr1:64104430 chr1:64104434 nonsynonymous SNV 0.999 2 25 hm5C_associated_SNPs_102846 3 Uncertain significance Congenital disorder of glycosylation type 1t RCV000290737.1
3875 chr1 64104434 64104434 1 + C A rs200407907 64104430 + 64104410 64104450 41 TTTTGGGAATTTGATGGACGCGAGCAAACTGTCCCTTTGTG TTTTGGGAATTTGATGGACGCGAGAAAACTGTCCCTTTGTG < 41bp 0.383891617679871 0.788852634657671 0.6406379 0.8127621 prediction 0.577705269315341 Functional Gain - PGM1 ENSG00000079739 CDS Human protein_coding chr1:64104430 chr1:64104434 nonsynonymous SNV 0.999 2 25 hm5C_associated_SNPs_102846 3 Uncertain significance Congenital disorder of glycosylation RCV000340998.1
3875 chr3 189608606 189608606 1 + T G UCEC 189608604 + 189608584 189608624 41 AGCGAGGTTGGGCTGTTCATCATGTCTGGACTATTTCACGA AGCGAGGTTGGGCTGTTCATCAGGTCTGGACTATTTCACGA < 41bp 0.477445099451564 0.787577772179005 0.17879808 0.89995533 prediction 0.575155544358011 Functional Gain - TP63 ENSG00000073282 CDS Human protein_coding chr3:189608604 chr3:189608606 nonsynonymous SNV 1.000 4 23 hm5C_associated_SNPs_102979 1 Pathogenic Hay-Wells syndrome of ectodermal dysplasia RCV000006910.2
3875 chr19 15662732 15662732 1 + C A rs2280434 15662728 + 15662708 15662748 41 CCCCCCAACTGGCTGAACCCCTGGCAGGCTTCCAAACTGAG CCCCCCAACTGGCTGAACCCCTGGAAGGCTTCCAAACTGAG < 41bp 0.582613837846806 0.870079294080469 0.07522106 0.2048035 prediction 0.574930912467326 Functional Gain - CYP4F22 ENSG00000171954 UTR3 Human protein_coding chr19:15662728 chr19:15662732 . . 0 25 hm5C_associated_SNPs_102993 1 Benign Congenital ichthyosiform erythroderma RCV000386070.1
3875 chr19 1207008 1207008 1 + C G rs79175212 1207007 + 1206987 1207027 41 CATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGC CATCCACCGCATCGACTCCACGGAGGTCATCTACCAGCCGC < 41bp 0.513228374505518 0.800322371582512 0.04217449 0.2446917 prediction 0.574187994153989 Functional Gain - STK11 ENSG00000118046 CDS Human protein_coding chr19:1207007 chr19:1207008 synonymous SNV . 0 22 hm5C_associated_SNPs_103042 3 other Peutz-Jeghers syndrome RCV000123069.4
3875 chr19 1207008 1207008 1 + C G rs79175212 1207007 + 1206987 1207027 41 CATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGC CATCCACCGCATCGACTCCACGGAGGTCATCTACCAGCCGC < 41bp 0.513228374505518 0.800322371582512 0.04217449 0.2446917 prediction 0.574187994153989 Functional Gain - STK11 ENSG00000118046 CDS Human protein_coding chr19:1207007 chr19:1207008 synonymous SNV . 0 22 hm5C_associated_SNPs_103042 3 Likely benign Hereditary cancer-predisposing syndrome RCV000160981.5
3875 chr19 1207008 1207008 1 + C G rs79175212 1207007 + 1206987 1207027 41 CATCCACCGCATCGACTCCACCGAGGTCATCTACCAGCCGC CATCCACCGCATCGACTCCACGGAGGTCATCTACCAGCCGC < 41bp 0.513228374505518 0.800322371582512 0.04217449 0.2446917 prediction 0.574187994153989 Functional Gain - STK11 ENSG00000118046 CDS Human protein_coding chr19:1207007 chr19:1207008 synonymous SNV . 0 22 hm5C_associated_SNPs_103042 3 Benign not specified RCV000213009.1
3875 chr1 161138933 161138933 1 + C G rs12735723 161138932 + 161138912 161138952 41 TCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGCCTC TCAGTGTTCTCAGAGGCCAGCGGGTCTGTGGGCTCAGCCTC < 41bp 0.479627377669623 0.787017247902098 0.80561393 0.9175999 prediction 0.574034495804196 Functional Gain - PPOX ENSG00000143224 CDS Human protein_coding chr1:161138932 chr1:161138933 nonsynonymous SNV 0.767 3 22 hm5C_associated_SNPs_103054 1 Pathogenic Variegate porphyria, homozygous RCV000009241.6
3875 chr12 69747417 69747417 1 + C A rs534565279 69747413 + 69747393 69747433 41 CGAGTAGCTGGGATTACGGGCGCCCGCCACCACGCCCGGCT CGAGTAGCTGGGATTACGGGCGCCAGCCACCACGCCCGGCT < 41bp 0.582981562466046 0.869752838553612 0.32699725 0.40670252 prediction 0.573542552175131 Functional Gain - LYZ ENSG00000257764 ncRNA_intronic Human antisense chr12:69747413 chr12:69747417 . . 0 25 hm5C_associated_SNPs_103077 1 Likely benign Familial visceral amyloidosis, Ostertag type RCV000346218.1
3875 chr8 101225559 101225559 1 + C G rs2514681 101225558 + 101225538 101225578 41 GCAGGGCGCGGAGAACCCTGCCGGCCTGAAGAGCCAGGGCA GCAGGGCGCGGAGAACCCTGCGGGCCTGAAGAGCCAGGGCA < 41bp 0.525500535983129 0.811929995957418 0.41809428 0.8852401 prediction 0.572858919948577 Functional Gain - SPAG1 ENSG00000104450 CDS Human protein_coding chr8:101225558 chr8:101225559 synonymous SNV . 0 22 hm5C_associated_SNPs_103125 1 Benign not specified RCV000250182.1
3875 chr9 137735786 137735786 1 + C A rs148823980 137735782 + 137735762 137735802 41 CCCCTTTGGGGAACCCTTTCCTGGCCATCGAGGTCGGGGGG CCCCTTTGGGGAACCCTTTCCTGGACATCGAGGTCGGGGGG < 41bp 0.467920680887382 0.785231982845991 0.2802151 0.36554486 prediction 0.570463965691983 Functional Gain - LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137735782 chr9:137735786 . . 0 25 hm5C_associated_SNPs_103222 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000406721.1
3875 chr8 74894281 74894281 1 + T A rs149063225 74894277 + 74894257 74894297 41 GCGGAGCTGTGGTCCACCTGCTCCTGCTCCTGACTCACTGC GCGGAGCTGTGGTCCACCTGCTCCAGCTCCTGACTCACTGC < 41bp 0.542379183493307 0.827448620778845 0.2478874 0.9009446 prediction 0.570138874571074 Functional Gain - TMEM70 ENSG00000175606 UTR3 Human protein_coding chr8:74894277 chr8:74894281 . . 0 25 hm5C_associated_SNPs_103233 1 Uncertain significance Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type RCV000311273.1
3875 chr16 55539807 55539807 1 + C G rs562314074 55539803 + 55539783 55539823 41 GCATGGCCAGGTGGCCACTCCAGACCCCTGGCTTTTCACTG GCATGGCCAGGTGGCCACTCCAGAGCCCTGGCTTTTCACTG < 41bp 0.510190227370817 0.794394236858656 0.5010721 0.85401344 prediction 0.568408018975679 Functional Gain - MMP2 ENSG00000087245 UTR3 Human protein_coding chr16:55539803 chr16:55539807 . . 0 25 hm5C_associated_SNPs_103323 1 Uncertain significance Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000288883.1
3875 chr22 41903841 41903841 1 + C G rs141772938 41903840 + 41903820 41903860 41 GAGAAGATTGTGTATGGACACCTGGATGACCCCGCCAGCCA GAGAAGATTGTGTATGGACACGTGGATGACCCCGCCAGCCA < 41bp 0.540797267197274 0.82338744649811 0.32511285 0.73657274 prediction 0.565180358601671 Functional Gain - ACO2 ENSG00000100412 CDS Human protein_coding chr22:41903840 chr22:41903841 nonsynonymous SNV 0.999 2 22 hm5C_associated_SNPs_103509 1 Pathogenic Optic atrophy 9 RCV000169730.3
3875 chr8 30969283 30969283 1 + T G rs2230011 30969281 + 30969261 30969301 41 GGCGAAAAACAGGGAATATCCTTCAGGATCTGCAGCCATTT GGCGAAAAACAGGGAATATCCTGCAGGATCTGCAGCCATTT < 41bp 0.544020244106751 0.825265651194574 0.07963386 0.16670987 prediction 0.562490814175647 Functional Gain - WRN ENSG00000165392 CDS Human protein_coding chr8:30969281 chr8:30969283 synonymous SNV . 0 23 hm5C_associated_SNPs_103658 1 other Werner syndrome RCV000226355.3
3875 chr11 61724453 61724453 1 + C A rs74653691 61724449 + 61724429 61724469 41 GGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAA GGTCGAATCCGGGACCCTATCCTGATCCAGAGCCTGCTGAA < 41bp 0.399811766823112 0.781228541491303 0.030604959 0.3380943 prediction 0.562457082982607 Functional Gain - BEST1 ENSG00000167995 CDS Human protein_coding chr11:61724449 chr11:61724453 nonsynonymous SNV 0.979 5 25 hm5C_associated_SNPs_103661 5 not provided not provided RCV000086142.1
3875 chr11 61724453 61724453 1 + C A rs74653691 61724449 + 61724429 61724469 41 GGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAA GGTCGAATCCGGGACCCTATCCTGATCCAGAGCCTGCTGAA < 41bp 0.399811766823112 0.781228541491303 0.030604959 0.3380943 prediction 0.562457082982607 Functional Gain - BEST1 ENSG00000167995 CDS Human protein_coding chr11:61724449 chr11:61724453 nonsynonymous SNV 0.979 5 25 hm5C_associated_SNPs_103661 5 Benign not specified RCV000152864.3
3875 chr11 61724453 61724453 1 + C A rs74653691 61724449 + 61724429 61724469 41 GGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAA GGTCGAATCCGGGACCCTATCCTGATCCAGAGCCTGCTGAA < 41bp 0.399811766823112 0.781228541491303 0.030604959 0.3380943 prediction 0.562457082982607 Functional Gain - BEST1 ENSG00000167995 CDS Human protein_coding chr11:61724449 chr11:61724453 nonsynonymous SNV 0.979 5 25 hm5C_associated_SNPs_103661 5 Likely benign Vitelliform macular dystrophy type 2 RCV000259515.1
3875 chr11 61724453 61724453 1 + C A rs74653691 61724449 + 61724429 61724469 41 GGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAA GGTCGAATCCGGGACCCTATCCTGATCCAGAGCCTGCTGAA < 41bp 0.399811766823112 0.781228541491303 0.030604959 0.3380943 prediction 0.562457082982607 Functional Gain - BEST1 ENSG00000167995 CDS Human protein_coding chr11:61724449 chr11:61724453 nonsynonymous SNV 0.979 5 25 hm5C_associated_SNPs_103661 5 Likely benign Retinitis Pigmentosa, Recessive RCV000324183.1
3875 chr11 61724453 61724453 1 + C A rs74653691 61724449 + 61724429 61724469 41 GGTCGAATCCGGGACCCTATCCTGCTCCAGAGCCTGCTGAA GGTCGAATCCGGGACCCTATCCTGATCCAGAGCCTGCTGAA < 41bp 0.399811766823112 0.781228541491303 0.030604959 0.3380943 prediction 0.562457082982607 Functional Gain - BEST1 ENSG00000167995 CDS Human protein_coding chr11:61724449 chr11:61724453 nonsynonymous SNV 0.979 5 25 hm5C_associated_SNPs_103661 5 Likely benign Vitreoretinochoroidopathy RCV000354425.1
3875 chrX 40450585 40450585 1 + C G rs9014 40450584 + 40450564 40450604 41 GTGAACAAACTGGCTCTACCCCCAGGCAGTGTCATTTCGTA GTGAACAAACTGGCTCTACCCGCAGGCAGTGTCATTTCGTA < 41bp 0.510456176507021 0.790584073924963 0.27540165 0.6525952 prediction 0.560255794835884 Functional Gain - ATP6AP2 ENSG00000182220 CDS Human protein_coding chrX:40450584 chrX:40450585 nonsynonymous SNV 0.910 0 22 hm5C_associated_SNPs_103789 1 other not specified RCV000081328.7
3875 chr16 72050945 72050945 1 + C A rs61741731 72050941 + 72050921 72050961 41 AGGTATGGATTTAACAGTCACGGGCTTTCAGTGGTGGAACA AGGTATGGATTTAACAGTCACGGGATTTCAGTGGTGGAACA < 41bp 0.627232196898895 0.90702399780566 0.35101926 0.86393166 prediction 0.559583601813529 Functional Gain - DHODH ENSG00000102967 CDS Human protein_coding chr16:72050941 chr16:72050945 nonsynonymous SNV 0.604 1 25 hm5C_associated_SNPs_103823 1 Uncertain significance Miller syndrome RCV000351984.1
3875 chr11 75277757 75277757 1 + C G rs650241 75277756 + 75277736 75277776 41 GCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCT GCTGCGCTCACTCAGCAACTCGACGGCGCGCAACGTGACCT < 41bp 0.470539500909466 0.779556356381093 0.18663886 0.32287169 prediction 0.559112712762186 Functional Gain - SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75277756 chr11:75277757 synonymous SNV . 0 22 hm5C_associated_SNPs_103845 2 Benign not specified RCV000175690.1
3875 chr11 75277757 75277757 1 + C G rs650241 75277756 + 75277736 75277776 41 GCTGCGCTCACTCAGCAACTCCACGGCGCGCAACGTGACCT GCTGCGCTCACTCAGCAACTCGACGGCGCGCAACGTGACCT < 41bp 0.470539500909466 0.779556356381093 0.18663886 0.32287169 prediction 0.559112712762186 Functional Gain - SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75277756 chr11:75277757 synonymous SNV . 0 22 hm5C_associated_SNPs_103845 2 Benign Osteogenesis Imperfecta, Recessive RCV000395933.1
3875 chrX 70444261 70444261 1 + T G rs104894825 70444259 + 70444239 70444279 41 CCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACC CCTTCCCGCAAGGGCTCGGGCTGCGGCCACCGCCTCTCACC < 41bp 0.596042862468637 0.874345445283903 0.14182931 0.21874544 prediction 0.556605165630532 Functional Gain - GJB1 ENSG00000169562 CDS Human protein_coding chrX:70444259 chrX:70444261 nonsynonymous SNV 0.999 1 23 hm5C_associated_SNPs_103985 4 Pathogenic X-linked hereditary motor and sensory neuropathy RCV000011195.6
3875 chrX 70444261 70444261 1 + T G rs104894825 70444259 + 70444239 70444279 41 CCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACC CCTTCCCGCAAGGGCTCGGGCTGCGGCCACCGCCTCTCACC < 41bp 0.596042862468637 0.874345445283903 0.14182931 0.21874544 prediction 0.556605165630532 Functional Gain - GJB1 ENSG00000169562 CDS Human protein_coding chrX:70444259 chrX:70444261 nonsynonymous SNV 0.999 1 23 hm5C_associated_SNPs_103985 4 Likely benign Charcot-Marie-Tooth, X-linked RCV000340151.1
3875 chrX 70444261 70444261 1 + T G rs104894825 70444259 + 70444239 70444279 41 CCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACC CCTTCCCGCAAGGGCTCGGGCTGCGGCCACCGCCTCTCACC < 41bp 0.596042862468637 0.874345445283903 0.14182931 0.21874544 prediction 0.556605165630532 Functional Gain - GJB1 ENSG00000169562 CDS Human protein_coding chrX:70444259 chrX:70444261 nonsynonymous SNV 0.999 1 23 hm5C_associated_SNPs_103985 4 other not specified RCV000344288.2
3875 chrX 70444261 70444261 1 + T G rs104894825 70444259 + 70444239 70444279 41 CCTTCCCGCAAGGGCTCGGGCTTCGGCCACCGCCTCTCACC CCTTCCCGCAAGGGCTCGGGCTGCGGCCACCGCCTCTCACC < 41bp 0.596042862468637 0.874345445283903 0.14182931 0.21874544 prediction 0.556605165630532 Functional Gain - GJB1 ENSG00000169562 CDS Human protein_coding chrX:70444259 chrX:70444261 nonsynonymous SNV 0.999 1 23 hm5C_associated_SNPs_103985 4 Benign Charcot-Marie-Tooth Neuropathy X RCV000467010.1
3875 chr1 161138933 161138933 1 + C G rs12735723 161138929 + 161138909 161138949 41 GGGTCAGTGTTCTCAGAGGCCAGCCGGTCTGTGGGCTCAGC GGGTCAGTGTTCTCAGAGGCCAGCGGGTCTGTGGGCTCAGC < 41bp 0.50890924871806 0.786887482871308 0.26623887 0.5124419 prediction 0.555956468306497 Functional Gain - PPOX ENSG00000143224 CDS Human protein_coding chr1:161138929 chr1:161138933 nonsynonymous SNV 0.767 3 25 hm5C_associated_SNPs_104022 1 Pathogenic Variegate porphyria, homozygous RCV000009241.6
3875 chr15 65370134 65370134 1 + C G rs184130258 65370133 + 65370113 65370153 41 GGTGGAGTACGCAGTGCGGACCGACGCGTGGCTGCCAGTGG GGTGGAGTACGCAGTGCGGACGGACGCGTGGCTGCCAGTGG < 41bp 0.534100717472135 0.811180611418843 0.13281482 0.44977167 prediction 0.554159787893416 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65370133 chr15:65370134 synonymous SNV . 0 22 hm5C_associated_SNPs_104132 1 Likely benign Nemaline Myopathy, Dominant RCV000348769.1
3875 chr2 178407946 178407946 1 + C A rs148879448 178407942 + 178407922 178407962 41 TCTTTCTGGATGTTTGCTCACAGGCTCCCTGAGGAGCAGAA TCTTTCTGGATGTTTGCTCACAGGATCCCTGAGGAGCAGAA < 41bp 0.539761445190826 0.81671085427147 0.26112306 0.47349888 prediction 0.553898818161287 Functional Gain - AGPS ENSG00000018510 UTR3 Human protein_coding chr2:178407942 chr2:178407946 . . 0 25 hm5C_associated_SNPs_104149 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000388067.1
3875 chr22 50962103 50962103 1 + C G rs200605042 50962099 + 50962079 50962119 41 CACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGT CACACTGTCTGAGATCTGCTCAGCGGATCTGCTCCGGCCGT < 41bp 0.494881415246474 0.776912089188538 0.5038174 0.8571264 prediction 0.553824178377077 Functional Gain - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962099 chr22:50962103 synonymous SNV . 0 25 hm5C_associated_SNPs_104153 2 Uncertain significance Fatal Infantile Cardioencephalomyopathy RCV000285975.1
3875 chr22 50962103 50962103 1 + C G rs200605042 50962099 + 50962079 50962119 41 CACACTGTCTGAGATCTGCTCAGCCGATCTGCTCCGGCCGT CACACTGTCTGAGATCTGCTCAGCGGATCTGCTCCGGCCGT < 41bp 0.494881415246474 0.776912089188538 0.5038174 0.8571264 prediction 0.553824178377077 Functional Gain - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962099 chr22:50962103 synonymous SNV . 0 25 hm5C_associated_SNPs_104153 2 Uncertain significance Cytochrome-c oxidase deficiency RCV000336339.1
3875 chr12 119632103 119632103 1 + C G rs13378054 119632102 + 119632082 119632122 41 CATGGTTTGGTTAATGAAACCCAGTAGCTAACCCCACTGTG CATGGTTTGGTTAATGAAACCGAGTAGCTAACCCCACTGTG < 41bp 0.512557287810657 0.789468080086801 0.1225602 0.55299056 prediction 0.553821584552286 Functional Gain - HSPB8 ENSG00000152137 UTR3 Human protein_coding chr12:119632102 chr12:119632103 . . 0 22 hm5C_associated_SNPs_104154 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000341183.1
3875 chr12 119632103 119632103 1 + C G rs13378054 119632102 + 119632082 119632122 41 CATGGTTTGGTTAATGAAACCCAGTAGCTAACCCCACTGTG CATGGTTTGGTTAATGAAACCGAGTAGCTAACCCCACTGTG < 41bp 0.512557287810657 0.789468080086801 0.1225602 0.55299056 prediction 0.553821584552286 Functional Gain - HSPB8 ENSG00000152137 UTR3 Human protein_coding chr12:119632102 chr12:119632103 . . 0 22 hm5C_associated_SNPs_104154 2 Likely benign Distal hereditary motor neuronopathy RCV000401745.1
3875 chr13 28494372 28494372 1 + C A rs192902098 28494368 + 28494348 28494388 41 GCGCCGGAGTTCAGCGCCAGCCCCCCTGCGTGCCTGTACAT GCGCCGGAGTTCAGCGCCAGCCCCACTGCGTGCCTGTACAT < 41bp 0.392344924280294 0.776642311457819 0.0856739 0.091938734 prediction 0.553284622915637 Functional Gain - PDX1 ENSG00000139515 CDS Human protein_coding chr13:28494368 chr13:28494372 nonsynonymous SNV 0.960 5 25 hm5C_associated_SNPs_104186 2 Uncertain significance Maturity-onset diabetes of the young, type 4 RCV000030086.1
3875 chr13 28494372 28494372 1 + C A rs192902098 28494368 + 28494348 28494388 41 GCGCCGGAGTTCAGCGCCAGCCCCCCTGCGTGCCTGTACAT GCGCCGGAGTTCAGCGCCAGCCCCACTGCGTGCCTGTACAT < 41bp 0.392344924280294 0.776642311457819 0.0856739 0.091938734 prediction 0.553284622915637 Functional Gain - PDX1 ENSG00000139515 CDS Human protein_coding chr13:28494368 chr13:28494372 nonsynonymous SNV 0.960 5 25 hm5C_associated_SNPs_104186 2 Likely pathogenic not provided RCV000414508.1
3875 chr10 75676767 75676767 1 + T A rs145634997 75676763 + 75676743 75676783 41 CTTAGCCAATGTGGGAGCAGCGGTTTGGGGAGCAGAGACAC CTTAGCCAATGTGGGAGCAGCGGTATGGGGAGCAGAGACAC < 41bp 0.486155880812688 0.776237119094833 0.9081213 0.8960526 prediction 0.552474238189667 Functional Gain - PLAU ENSG00000122861 UTR3 Human protein_coding chr10:75676763 chr10:75676767 . . 0 25 hm5C_associated_SNPs_104228 1 Likely benign Quebec platelet disorder RCV000286448.1
3875 chr13 43148546 43148546 1 + C G rs138818878 43148545 + 43148525 43148565 41 CCCTGCACGCCCCGCCGCCGCCTGCGCCGCACCAGCCCCCT CCCTGCACGCCCCGCCGCCGCGTGCGCCGCACCAGCCCCCT < 41bp 0.490473709224262 0.775702346344155 0.06905219 0.201848 prediction 0.551404692688309 Functional Gain - TNFSF11 ENSG00000120659 CDS Human protein_coding chr13:43148545 chr13:43148546 nonsynonymous SNV 0.014 0 22 hm5C_associated_SNPs_104289 1 Likely benign Osteopetrosis RCV000338886.1
3875 chr18 55398906 55398906 1 + T G rs146599962 55398903 + 55398883 55398923 41 CCTCTGCTTCCCTGTTGACTCGGTTTTGTTCTGGTTCAACA CCTCTGCTTCCCTGTTGACTCGGGTTTGTTCTGGTTCAACA < 41bp 0.397478665945181 0.775572673704696 0.14054558 0.65076286 prediction 0.551145347409392 Functional Gain - ATP8B1 ENSG00000081923 CDS Human protein_coding chr18:55398903 chr18:55398906 nonsynonymous SNV 0.947 1 24 hm5C_associated_SNPs_104303 1 other not specified RCV000298145.2
3875 chr19 50902659 50902659 1 + C G rs2228665 50902655 + 50902635 50902675 41 CCCACCATCAGCCATAGATCCTCGCTGGCTTCGGCCCACAC CCCACCATCAGCCATAGATCCTCGGTGGCTTCGGCCCACAC < 41bp 0.496671095537893 0.775379468148798 0.709865 0.8717084 prediction 0.550758936297596 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902655 chr19:50902659 synonymous SNV . 0 25 hm5C_associated_SNPs_104327 2 Benign not specified RCV000444537.1
3875 chr19 50902659 50902659 1 + C G rs2228665 50902655 + 50902635 50902675 41 CCCACCATCAGCCATAGATCCTCGCTGGCTTCGGCCCACAC CCCACCATCAGCCATAGATCCTCGGTGGCTTCGGCCCACAC < 41bp 0.496671095537893 0.775379468148798 0.709865 0.8717084 prediction 0.550758936297596 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902655 chr19:50902659 synonymous SNV . 0 25 hm5C_associated_SNPs_104327 2 Benign Colorectal cancer 10 RCV000475090.1
3875 chr10 18429624 18429624 1 + C A rs138094231 18429620 + 18429600 18429640 41 GGGGGCGAGGAGGAGGGGACCCGCCGCCGGGGGCTGGCTGC GGGGGCGAGGAGGAGGGGACCCGCAGCCGGGGGCTGGCTGC < 41bp 0.528965176488283 0.804063055062645 0.8100378 0.8925701 prediction 0.550195757148723 Functional Gain - CACNB2 ENSG00000165995 UTR5 Human protein_coding chr10:18429620 chr10:18429624 . . 0 25 hm5C_associated_SNPs_104364 1 Benign not specified RCV000170860.2
3875 chr12 124172643 124172643 1 + C A rs144567556 124172639 + 124172619 124172659 41 CTTTGAAGTATATGTGGATACTGACGCAAAAGACTTTGCAG CTTTGAAGTATATGTGGATACTGAAGCAAAAGACTTTGCAG < 41bp 0.377060713841659 0.775030599167637 0.1554904 0.3590859 prediction 0.550061198335273 Functional Gain - TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124172639 chr12:124172643 nonsynonymous SNV 0.000 1 25 hm5C_associated_SNPs_104373 1 Uncertain significance not provided RCV000435083.1
3875 chr3 32208467 32208467 1 + T G rs6791603 32208465 + 32208445 32208485 41 GGCGGTCCTCGGTGCAGCAGCATCAGCTTCACTTGTGGGGG GGCGGTCCTCGGTGCAGCAGCAGCAGCTTCACTTGTGGGGG < 41bp 0.572505718225659 0.846902694147707 0.15719497 0.42681244 prediction 0.548793951844096 Functional Gain - GPD1L ENSG00000152642 UTR3 Human protein_coding chr3:32208465 chr3:32208467 . . 0 23 hm5C_associated_SNPs_104459 1 Likely benign Brugada syndrome RCV000402671.1
3875 chr1 1168115 1168115 1 + C A rs142820961 1168111 + 1168091 1168131 41 GAGCACGTGGCCTTCGAGTTCGTGCTCAAGGCGGACGACGA GAGCACGTGGCCTTCGAGTTCGTGATCAAGGCGGACGACGA < 41bp 0.613967353326842 0.886385795806998 0.0676108 0.10239148 prediction 0.544836884960312 Functional Gain - B3GALT6 ENSG00000176022 CDS Human protein_coding chr1:1168111 chr1:1168115 nonsynonymous SNV 0.988 1 25 hm5C_associated_SNPs_104708 1 Uncertain significance not specified RCV000431776.1
3875 chr11 118186305 118186305 1 + C A rs2231449 118186301 + 118186281 118186321 41 GCTGGCCCAGGTCTCCTCTCCAGTCCCCCTGCGACTCCCTG GCTGGCCCAGGTCTCCTCTCCAGTACCCCTGCGACTCCCTG < 41bp 0.397030943259881 0.771502483531462 0.32286742 0.07919791 prediction 0.543004967062924 Functional Gain - CD3E ENSG00000198851 UTR3 Human protein_coding chr11:118186301 chr11:118186305 . . 0 25 hm5C_associated_SNPs_104811 1 Likely benign Severe Combined Immune Deficiency RCV000283521.1
3875 chr8 30977881 30977881 1 + T C rs3087432 30977879 + 30977859 30977899 41 AGGAGATTGGTAGAGCTGGTCGTGATGGACTTCAAAGTTCT AGGAGATTGGTAGAGCTGGTCGCGATGGACTTCAAAGTTCT < 41bp 0.526917336867855 0.798209505395365 0.29781407 0.2971261 prediction 0.54258433705502 Functional Gain - WRN ENSG00000165392 CDS Human protein_coding chr8:30977879 chr8:30977881 synonymous SNV . 0 23 hm5C_associated_SNPs_104828 1 Likely benign Werner syndrome RCV000476176.1
3875 chr4 187130359 187130359 1 + C G rs35524919 187130358 + 187130338 187130378 41 CCAGCCTGAGCGGTTCTTCCCCGAGAATGCACAAGGGCGCC CCAGCCTGAGCGGTTCTTCCCGGAGAATGCACAAGGGCGCC < 41bp 0.5733264118488 0.843695201539992 0.55677843 0.93789554 prediction 0.540737579382384 Functional Gain - CYP4V2 ENSG00000145476;ENSG00000164344 CDS Human other chr4:187130358 chr4:187130359 synonymous SNV . 0 22 hm5C_associated_SNPs_104958 2 Uncertain significance Corneal Dystrophy, Recessive RCV000311613.1
3875 chr4 187130359 187130359 1 + C G rs35524919 187130358 + 187130338 187130378 41 CCAGCCTGAGCGGTTCTTCCCCGAGAATGCACAAGGGCGCC CCAGCCTGAGCGGTTCTTCCCGGAGAATGCACAAGGGCGCC < 41bp 0.5733264118488 0.843695201539992 0.55677843 0.93789554 prediction 0.540737579382384 Functional Gain - CYP4V2 ENSG00000145476;ENSG00000164344 CDS Human other chr4:187130358 chr4:187130359 synonymous SNV . 0 22 hm5C_associated_SNPs_104958 2 Uncertain significance Bietti crystalline corneoretinal dystrophy RCV000405869.1
3875 chr12 65672558 65672558 1 + C A rs182726780 65672554 + 65672534 65672574 41 CTGCCTGGCCTTTCCATGAGCCCGCGGCGGACCCTCCCGCG CTGCCTGGCCTTTCCATGAGCCCGAGGCGGACCCTCCCGCG < 41bp 0.618646782273235 0.888627813518592 0.34559357 0.44498372 prediction 0.539962062490713 Functional Gain - MSRB3 ENSG00000174099 CDS Human protein_coding chr12:65672554 chr12:65672558 synonymous SNV . 0 25 hm5C_associated_SNPs_105004 1 Benign not specified RCV000214111.1
3875 chr17 41064737 41064737 1 + C A rs161620 41064733 + 41064713 41064753 41 CTGGGCTCAAGCAGTCCTCCCACCCTACCACAGCGTCCCGC CTGGGCTCAAGCAGTCCTCCCACCATACCACAGCGTCCCGC < 41bp 0.404304479647493 0.769604568896523 0.10465816 0.21242282 prediction 0.539209137793045 Functional Gain - G6PC ENSG00000131482 UTR3 Human protein_coding chr17:41064733 chr17:41064737 . . 0 25 hm5C_associated_SNPs_105060 1 Benign Glycogen storage disease, type I RCV000287341.1
3875 chr1 25627552 25627552 1 + C G rs1053355 25627548 + 25627528 25627568 41 AGGGAACGGAGGATAAAGATCAGACAGCAACGATACCCAGT AGGGAACGGAGGATAAAGATCAGAGAGCAACGATACCCAGT < 41bp 0.469757782123281 0.769544257588288 0.4286152 0.8873707 prediction 0.539088515176577 Functional Gain - RHD ENSG00000187010 CDS Human protein_coding chr1:25627548 chr1:25627552 nonsynonymous SNV 0.000 0 25 hm5C_associated_SNPs_105070 2 not provided Weak RhD expression RCV000184007.1
3875 chr1 25627552 25627552 1 + C G rs1053355 25627548 + 25627528 25627568 41 AGGGAACGGAGGATAAAGATCAGACAGCAACGATACCCAGT AGGGAACGGAGGATAAAGATCAGAGAGCAACGATACCCAGT < 41bp 0.469757782123281 0.769544257588288 0.4286152 0.8873707 prediction 0.539088515176577 Functional Gain - RHD ENSG00000187010 CDS Human protein_coding chr1:25627548 chr1:25627552 nonsynonymous SNV 0.000 0 25 hm5C_associated_SNPs_105070 2 not provided Weak RhD expression RCV000190496.1
3875 chr17 78075384 78075384 1 + C G rs144639114 78075383 + 78075363 78075403 41 CTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGGCGG CTGCGCGCCCCCGGGCACGACGCCGGAGTCTCCGCGGGCGG < 41bp 0.531820175243245 0.800859090541922 0.46434447 0.52669376 prediction 0.538077830597355 Functional Gain - GAA ENSG00000171298 UTR5 Human protein_coding chr17:78075383 chr17:78075384 . . 0 22 hm5C_associated_SNPs_105138 2 Likely benign Glycogen storage disease, type II RCV000271949.1
3875 chr17 78075384 78075384 1 + C G rs144639114 78075383 + 78075363 78075403 41 CTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGGCGG CTGCGCGCCCCCGGGCACGACGCCGGAGTCTCCGCGGGCGG < 41bp 0.531820175243245 0.800859090541922 0.46434447 0.52669376 prediction 0.538077830597355 Functional Gain - GAA ENSG00000171298 UTR5 Human protein_coding chr17:78075383 chr17:78075384 . . 0 22 hm5C_associated_SNPs_105138 2 Likely benign Primary ciliary dyskinesia RCV000294842.1
3875 chr10 73724266 73724266 1 + C G rs4148907 73724265 + 73724245 73724285 41 TTCCAGCGTGCCGACCGGCCCCGCAGCGCCTCCATCCCTCC TTCCAGCGTGCCGACCGGCCCGGCAGCGCCTCCATCCCTCC < 41bp 0.528545879372061 0.797250203140221 0.047200084 0.27689394 prediction 0.53740864753632 Functional Gain - CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724265 chr10:73724266 . . 0 22 hm5C_associated_SNPs_105186 4 Benign Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000284764.1
3875 chr10 73724266 73724266 1 + C G rs4148907 73724265 + 73724245 73724285 41 TTCCAGCGTGCCGACCGGCCCCGCAGCGCCTCCATCCCTCC TTCCAGCGTGCCGACCGGCCCGGCAGCGCCTCCATCCCTCC < 41bp 0.528545879372061 0.797250203140221 0.047200084 0.27689394 prediction 0.53740864753632 Functional Gain - CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724265 chr10:73724266 . . 0 22 hm5C_associated_SNPs_105186 4 Benign Spondyloepiphyseal dysplasia RCV000307004.1
3875 chr10 73724266 73724266 1 + C G rs4148907 73724265 + 73724245 73724285 41 TTCCAGCGTGCCGACCGGCCCCGCAGCGCCTCCATCCCTCC TTCCAGCGTGCCGACCGGCCCGGCAGCGCCTCCATCCCTCC < 41bp 0.528545879372061 0.797250203140221 0.047200084 0.27689394 prediction 0.53740864753632 Functional Gain - CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724265 chr10:73724266 . . 0 22 hm5C_associated_SNPs_105186 4 Benign Larsen syndrome RCV000342077.1
3875 chr10 73724266 73724266 1 + C G rs4148907 73724265 + 73724245 73724285 41 TTCCAGCGTGCCGACCGGCCCCGCAGCGCCTCCATCCCTCC TTCCAGCGTGCCGACCGGCCCGGCAGCGCCTCCATCCCTCC < 41bp 0.528545879372061 0.797250203140221 0.047200084 0.27689394 prediction 0.53740864753632 Functional Gain - CHST3 ENSG00000122863 UTR5 Human protein_coding chr10:73724265 chr10:73724266 . . 0 22 hm5C_associated_SNPs_105186 4 Benign Skeletal dysplasia RCV000399138.1
3875 chr4 1808592 1808592 1 + C G rs145020302 1808588 + 1808568 1808608 41 GCGGGAGTGCTGGCATGCCGCGCCCTCCCAGAGGCCCACCT GCGGGAGTGCTGGCATGCCGCGCCGTCCCAGAGGCCCACCT < 41bp 0.487793857597876 0.768641041138008 0.029661804 0.05142954 prediction 0.537282082276016 Functional Gain - FGFR3 ENSG00000068078 CDS Human protein_coding chr4:1808588 chr4:1808592 nonsynonymous SNV 0.001 2 25 hm5C_associated_SNPs_105190 1 Benign not specified RCV000251336.1
3875 chr19 41903766 41903766 1 + C A rs34541442 41903762 + 41903742 41903782 41 GCGATCGCTGCAGCGAGGGTCTGGCGGCTAAACCGTGGTTT GCGATCGCTGCAGCGAGGGTCTGGAGGCTAAACCGTGGTTT < 41bp 0.397697455199699 0.768408602710124 0.88226104 0.8864641 prediction 0.536817205420248 Functional Gain - BCKDHA ENSG00000248098 CDS Human protein_coding chr19:41903762 chr19:41903766 synonymous SNV . 0 25 hm5C_associated_SNPs_105216 1 other not specified RCV000079237.9
3875 chr12 12870508 12870508 1 + C G rs3093728 12870507 + 12870487 12870527 41 GACGGGCTTTGCCACCCTCTCCGCTTGCCTGGTCCCCTCTC GACGGGCTTTGCCACCCTCTCGGCTTGCCTGGTCCCCTCTC < 41bp 0.524383856415686 0.792215582425163 0.40525272 0.92035043 prediction 0.535663452018955 Functional Gain - CDKN1B ENSG00000111276 UTR5 Human protein_coding chr12:12870507 chr12:12870508 . . 0 22 hm5C_associated_SNPs_105294 1 Likely benign Multiple endocrine neoplasia RCV000397841.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Adenocarcinoma of stomach RCV000418083.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000419419.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Hepatocellular carcinoma RCV000420040.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Pilomatrixoma RCV000427501.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Malignant melanoma of skin RCV000427907.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Adenocarcinoma of lung RCV000430713.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Malignant neoplasm of body of uterus RCV000436663.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Craniopharyngioma RCV000438184.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Medulloblastoma RCV000438599.1
3875 chr3 41266103 41266103 1 + G C ACC 41266104 - 41266084 41266124 41 TAGTGGCACCAGAATGGATTCCAGAGTCCAGGTAAGACTGT TAGTGGCACCAGAATGGATTCGAGAGTCCAGGTAAGACTGT < 41bp 0.561018360860774 0.827146678478385 0.68668604 0.8969135 prediction 0.532256635235221 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266104 chr3:41266103 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_105546 10 Likely pathogenic Adrenocortical carcinoma RCV000438776.1
3875 chr22 41323248 41323248 1 + C A rs57486044 41323244 + 41323224 41323264 41 TCCCAGCACTTTGGGAGGTCCAGGCAGGTGGATCTCTTGAG TCCCAGCACTTTGGGAGGTCCAGGAAGGTGGATCTCTTGAG < 41bp 0.616369398177731 0.881495199193461 0.88668716 0.9089204 prediction 0.53025160203146 Functional Gain - XPNPEP3 ENSG00000196236 UTR3 Human protein_coding chr22:41323244 chr22:41323248 . . 0 25 hm5C_associated_SNPs_105696 1 Uncertain significance Nephronophthisis-Like Nephropathy RCV000378242.1
3875 chr6 143792536 143792536 1 + C G rs199781957 143792535 + 143792515 143792555 41 TACAGACAATTCTTGCTCCCCCAGATGTCCAACAGCAGTAT TACAGACAATTCTTGCTCCCCGAGATGTCCAACAGCAGTAT < 41bp 0.460166302130928 0.764855919728584 0.13664126 0.21701899 prediction 0.529711839457168 Functional Gain - PEX3 ENSG00000034693 CDS Human protein_coding chr6:143792535 chr6:143792536 nonsynonymous SNV 1.000 1 22 hm5C_associated_SNPs_105745 2 Uncertain significance not specified RCV000274339.1
3875 chr6 143792536 143792536 1 + C G rs199781957 143792535 + 143792515 143792555 41 TACAGACAATTCTTGCTCCCCCAGATGTCCAACAGCAGTAT TACAGACAATTCTTGCTCCCCGAGATGTCCAACAGCAGTAT < 41bp 0.460166302130928 0.764855919728584 0.13664126 0.21701899 prediction 0.529711839457168 Functional Gain - PEX3 ENSG00000034693 CDS Human protein_coding chr6:143792535 chr6:143792536 nonsynonymous SNV 1.000 1 22 hm5C_associated_SNPs_105745 2 Uncertain significance Zellweger syndrome RCV000317753.1
3875 chr19 12921196 12921196 1 + T A rs62619782 12921192 + 12921172 12921212 41 GAAACTGCAGGACTTGGATACTGATTATGGCTCAGGCTACC GAAACTGCAGGACTTGGATACTGAATATGGCTCAGGCTACC < 41bp 0.440938105054559 0.76452136905639 0.14840609 0.3870543 prediction 0.529042738112781 Functional Gain - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12921192 chr19:12921196 nonsynonymous SNV 0.973 2 25 hm5C_associated_SNPs_105797 1 Likely benign Aicardi Goutieres syndrome RCV000364291.1
3875 chr22 24919646 24919646 1 + C A rs113975342 24919642 + 24919622 24919662 41 TATGTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTC TATGTGGCAGCCCCTGACAGCAGCAGGACTCCTGGGCTGTC < 41bp 0.344661804216101 0.764477772563303 0.33543062 0.40628526 prediction 0.528955545126607 Functional Gain - UPB1 ENSG00000100024 CDS Human protein_coding chr22:24919642 chr22:24919646 synonymous SNV . 0 25 hm5C_associated_SNPs_105802 2 not provided not provided RCV000086548.1
3875 chr22 24919646 24919646 1 + C A rs113975342 24919642 + 24919622 24919662 41 TATGTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTC TATGTGGCAGCCCCTGACAGCAGCAGGACTCCTGGGCTGTC < 41bp 0.344661804216101 0.764477772563303 0.33543062 0.40628526 prediction 0.528955545126607 Functional Gain - UPB1 ENSG00000100024 CDS Human protein_coding chr22:24919642 chr22:24919646 synonymous SNV . 0 25 hm5C_associated_SNPs_105802 2 Uncertain significance Deficiency of beta-ureidopropionase RCV000382705.1
3875 chr3 124464257 124464257 1 + C A rs2242249 124464253 + 124464233 124464273 41 GACAGAATCTCACTGTCGCCCAGGCTGGAGTTCAGTGGCAC GACAGAATCTCACTGTCGCCCAGGATGGAGTTCAGTGGCAC < 41bp 0.401676691395081 0.763940929221712 0.7409935 0.8419659 prediction 0.527881858443425 Functional Gain - UMPS ENSG00000114491 downstream Human protein_coding chr3:124464253 chr3:124464257 . . 0 25 hm5C_associated_SNPs_105882 1 Likely benign Orotic aciduria RCV000348000.1
3875 chr2 224824695 224824695 1 + T C rs35331337 224824693 + 224824673 224824713 41 CCCTGTTACAGAGCAGTGGACCTGAGAGGACTGCACTTTTC CCCTGTTACAGAGCAGTGGACCCGAGAGGACTGCACTTTTC < 41bp 0.505520055350335 0.76918830700946 0.58910143 0.52358276 prediction 0.52733650331825 Functional Gain - MRPL44 ENSG00000135900 CDS Human protein_coding chr2:224824693 chr2:224824695 synonymous SNV . 0 23 hm5C_associated_SNPs_105915 1 Benign not specified RCV000126801.1
3875 chr20 30422215 30422215 1 + C G rs138885545 30422211 + 30422191 30422231 41 GCTGGCCCCCACCCACCTTCCTTGCGACCACCAACACACAG GCTGGCCCCCACCCACCTTCCTTGGGACCACCAACACACAG < 41bp 0.520225772402144 0.783805802248519 0.013570428 0.0038814247 prediction 0.527160059692751 Functional Gain - MYLK2 ENSG00000101306 UTR3 Human protein_coding chr20:30422211 chr20:30422215 . . 0 25 hm5C_associated_SNPs_105935 1 Uncertain significance Hypertrophic cardiomyopathy RCV000349611.1
3875 chr20 4680118 4680118 1 + T C rs62637686 4680116 + 4680096 4680136 41 ATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTGGGGT ATGGTGGTGGCTGGGGACAGCCCCATGGTGGTGGCTGGGGT < 41bp 0.496695971338244 0.763437848261705 0.17577133 0.24634749 prediction 0.526875696523411 Functional Gain - PRNP ENSG00000171867 CDS Human protein_coding chr20:4680116 chr20:4680118 synonymous SNV . 0 23 hm5C_associated_SNPs_105957 1 Benign Genetic prion diseases RCV000398037.1
3875 chr4 169799163 169799163 1 + C G rs550499593 169799159 + 169799139 169799179 41 GGGCCCGCGTCGGGCCACGGCACGCCGGCCTCCAGCCCCAG GGGCCCGCGTCGGGCCACGGCACGGCGGCCTCCAGCCCCAG < 41bp 0.510085154436046 0.773409871560335 0.17470726 0.47191158 prediction 0.526649434248579 Functional Gain - PALLD ENSG00000129116 CDS Human protein_coding chr4:169799159 chr4:169799163 nonsynonymous SNV 0.010 0 25 hm5C_associated_SNPs_105974 1 Uncertain significance Pancreatic adenocarcinoma RCV000123161.5
3875 chr3 8788341 8788341 1 + C A rs181285740 8788337 + 8788317 8788357 41 AGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTA AGCCCCTGAAATGCCCAGTACTGCAATTTGACATGAGGGTA < 41bp 0.594772008203358 0.857458227685226 0.10258144 0.16732535 prediction 0.525372438963736 Functional Gain - CAV3 ENSG00000182533 UTR3 Human protein_coding chr3:8788337 chr3:8788341 . . 0 25 hm5C_associated_SNPs_106088 5 Uncertain significance Hypertrophic cardiomyopathy RCV000305781.1
3875 chr3 8788341 8788341 1 + C A rs181285740 8788337 + 8788317 8788357 41 AGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTA AGCCCCTGAAATGCCCAGTACTGCAATTTGACATGAGGGTA < 41bp 0.594772008203358 0.857458227685226 0.10258144 0.16732535 prediction 0.525372438963736 Functional Gain - CAV3 ENSG00000182533 UTR3 Human protein_coding chr3:8788337 chr3:8788341 . . 0 25 hm5C_associated_SNPs_106088 5 Uncertain significance Caveolinopathy RCV000307329.1
3875 chr3 8788341 8788341 1 + C A rs181285740 8788337 + 8788317 8788357 41 AGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTA AGCCCCTGAAATGCCCAGTACTGCAATTTGACATGAGGGTA < 41bp 0.594772008203358 0.857458227685226 0.10258144 0.16732535 prediction 0.525372438963736 Functional Gain - CAV3 ENSG00000182533 UTR3 Human protein_coding chr3:8788337 chr3:8788341 . . 0 25 hm5C_associated_SNPs_106088 5 Uncertain significance Limb-Girdle Muscular Dystrophy, Dominant RCV000358181.1
3875 chr3 8788341 8788341 1 + C A rs181285740 8788337 + 8788317 8788357 41 AGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTA AGCCCCTGAAATGCCCAGTACTGCAATTTGACATGAGGGTA < 41bp 0.594772008203358 0.857458227685226 0.10258144 0.16732535 prediction 0.525372438963736 Functional Gain - CAV3 ENSG00000182533 UTR3 Human protein_coding chr3:8788337 chr3:8788341 . . 0 25 hm5C_associated_SNPs_106088 5 Uncertain significance Romano-Ward syndrome RCV000363903.1
3875 chr3 8788341 8788341 1 + C A rs181285740 8788337 + 8788317 8788357 41 AGCCCCTGAAATGCCCAGTACTGCCATTTGACATGAGGGTA AGCCCCTGAAATGCCCAGTACTGCAATTTGACATGAGGGTA < 41bp 0.594772008203358 0.857458227685226 0.10258144 0.16732535 prediction 0.525372438963736 Functional Gain - CAV3 ENSG00000182533 UTR3 Human protein_coding chr3:8788337 chr3:8788341 . . 0 25 hm5C_associated_SNPs_106088 5 Uncertain significance Long QT syndrome RCV000401522.1
3875 chr6 146755842 146755842 1 + C A rs9373491 146755838 + 146755818 146755858 41 GGGCAGCTCGGTGCCCAGCTCCCCCGTGTCCGAGTCGGTGC GGGCAGCTCGGTGCCCAGCTCCCCAGTGTCCGAGTCGGTGC < 41bp 0.369122563986959 0.762599902743088 0.10231009 0.32768002 prediction 0.525199805486176 Functional Gain - GRM1 ENSG00000152822 CDS Human protein_coding chr6:146755838 chr6:146755842 synonymous SNV . 0 25 hm5C_associated_SNPs_106113 1 Likely benign not specified RCV000117208.2
3875 chr12 58190184 58190184 1 + C A rs62000432 58190180 + 58190160 58190200 41 CAGCATGTGGTGGGCATGGCCCCCCTCTCTGTTGGCTCCCT CAGCATGTGGTGGGCATGGCCCCCATCTCTGTTGGCTCCCT < 41bp 0.355844093869724 0.762183721582399 0.053237528 0.04327771 prediction 0.524367443164799 Functional Gain - TSFM ENSG00000123297 CDS Human protein_coding chr12:58190180 chr12:58190184 nonsynonymous SNV 0.981 0 25 hm5C_associated_SNPs_106189 2 Likely benign not provided RCV000224319.1
3875 chr12 58190184 58190184 1 + C A rs62000432 58190180 + 58190160 58190200 41 CAGCATGTGGTGGGCATGGCCCCCCTCTCTGTTGGCTCCCT CAGCATGTGGTGGGCATGGCCCCCATCTCTGTTGGCTCCCT < 41bp 0.355844093869724 0.762183721582399 0.053237528 0.04327771 prediction 0.524367443164799 Functional Gain - TSFM ENSG00000123297 CDS Human protein_coding chr12:58190180 chr12:58190184 nonsynonymous SNV 0.981 0 25 hm5C_associated_SNPs_106189 2 Uncertain significance Combined oxidative phosphorylation deficiency RCV000289720.1
3875 chr12 114846029 114846029 1 + C G rs148864662 114846025 + 114846005 114846045 41 GTCTGCGCAGCCACAGGTTCCGGACGTCTTGGCCCCGGGAA GTCTGCGCAGCCACAGGTTCCGGAGGTCTTGGCCCCGGGAA < 41bp 0.554377512306928 0.816496279851837 0.77903545 0.92144287 prediction 0.524237535089819 Functional Gain - TBX5-AS1 ENSG00000255399 ncRNA_exonic Human antisense chr12:114846025 chr12:114846029 . . 0 25 hm5C_associated_SNPs_106202 1 Likely benign Holt-Oram syndrome RCV000304380.1
3875 chr12 50352186 50352186 1 + T G rs1077521 50352183 + 50352163 50352203 41 AATCCTAGGCTCCTGGGAGGCCCTGGCAGAAGCCAGAACAC AATCCTAGGCTCCTGGGAGGCCCGGGCAGAAGCCAGAACAC < 41bp 0.452497071393539 0.761737085736568 0.4122777 0.4648733 prediction 0.523474171473135 Functional Gain - LOC101927318 ENSG00000257588 ncRNA_intronic Human antisense chr12:50352183 chr12:50352186 . . 0 24 hm5C_associated_SNPs_106262 1 Likely benign Nephrogenic diabetes insipidus RCV000270249.1
3875 chr19 12921186 12921186 1 + T C rs7247284 12921184 + 12921164 12921204 41 TTCGTGGAGAAACTGCAGGACTTGGATACTGATTATGGCTC TTCGTGGAGAAACTGCAGGACTCGGATACTGATTATGGCTC < 41bp 0.508619513780624 0.770330516036291 0.24756059 0.27325714 prediction 0.523422004511335 Functional Gain - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12921184 chr19:12921186 nonsynonymous SNV 0.003 1 23 hm5C_associated_SNPs_106266 2 Benign not specified RCV000245339.1
3875 chr19 12921186 12921186 1 + T C rs7247284 12921184 + 12921164 12921204 41 TTCGTGGAGAAACTGCAGGACTTGGATACTGATTATGGCTC TTCGTGGAGAAACTGCAGGACTCGGATACTGATTATGGCTC < 41bp 0.508619513780624 0.770330516036291 0.24756059 0.27325714 prediction 0.523422004511335 Functional Gain - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12921184 chr19:12921186 nonsynonymous SNV 0.003 1 23 hm5C_associated_SNPs_106266 2 Likely benign Aicardi Goutieres syndrome RCV000325962.1
3875 chr20 56140980 56140980 1 + T G rs1042531 56140978 + 56140958 56140998 41 CATAATAATCATCACCACACCGTGAGCAGATCTGAAAGGCA CATAATAATCATCACCACACCGGGAGCAGATCTGAAAGGCA < 41bp 0.579617652776299 0.841185830384599 0.057575554 0.68743217 prediction 0.523136355216601 Functional Gain - PCK1 ENSG00000124253 UTR3 Human protein_coding chr20:56140978 chr20:56140980 . . 0 23 hm5C_associated_SNPs_106282 1 Benign Phosphoenolpyruvate carboxykinase (GTP) deficiency RCV000387099.1
3875 chr2 220371035 220371035 1 + C G rs1046474 220371034 + 220371014 220371054 41 GAGCACCGTGGGACGCTGGGCCCGCGTGGAGGGTACCCCCA GAGCACCGTGGGACGCTGGGCGCGCGTGGAGGGTACCCCCA < 41bp 0.580250622495409 0.841293247563735 0.07677752 0.37551966 prediction 0.522085250136652 Functional Gain - GMPPA ENSG00000144591 CDS Human protein_coding chr2:220371034 chr2:220371035 synonymous SNV . 0 22 hm5C_associated_SNPs_106354 1 Benign not specified RCV000424882.1
3875 chr3 14175262 14175262 1 + T C rs2340917 14175260 + 14175240 14175280 41 GCCATGGCAGTGGAGTCATTCATGGCAACAGCCCCCTTTGT GCCATGGCAGTGGAGTCATTCACGGCAACAGCCCCCTTTGT < 41bp 0.517027799568428 0.777888648142029 0.54293823 0.39245608 prediction 0.521721697147203 Functional Gain - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14175260 chr3:14175262 nonsynonymous SNV 0.297 0 23 hm5C_associated_SNPs_106379 3 Benign not specified RCV000039389.10
3875 chr3 14175262 14175262 1 + T C rs2340917 14175260 + 14175240 14175280 41 GCCATGGCAGTGGAGTCATTCATGGCAACAGCCCCCTTTGT GCCATGGCAGTGGAGTCATTCACGGCAACAGCCCCCTTTGT < 41bp 0.517027799568428 0.777888648142029 0.54293823 0.39245608 prediction 0.521721697147203 Functional Gain - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14175260 chr3:14175262 nonsynonymous SNV 0.297 0 23 hm5C_associated_SNPs_106379 3 Benign Cardiovascular phenotype RCV000244862.1
3875 chr3 14175262 14175262 1 + T C rs2340917 14175260 + 14175240 14175280 41 GCCATGGCAGTGGAGTCATTCATGGCAACAGCCCCCTTTGT GCCATGGCAGTGGAGTCATTCACGGCAACAGCCCCCTTTGT < 41bp 0.517027799568428 0.777888648142029 0.54293823 0.39245608 prediction 0.521721697147203 Functional Gain - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14175260 chr3:14175262 nonsynonymous SNV 0.297 0 23 hm5C_associated_SNPs_106379 3 Likely benign Cardiomyopathy, ARVC RCV000379959.1
3875 chr16 53878098 53878098 1 + T A LIHC 53878094 + 53878074 53878114 41 AGAGGAAAGTGAGGATGACTCTCATCTCGAAGGCAGGGATC AGAGGAAAGTGAGGATGACTCTCAACTCGAAGGCAGGGATC < 41bp 0.441156621521089 0.760653218726062 0.010984808 0.035553634 prediction 0.521306437452123 Functional Gain - FTO ENSG00000140718 CDS Human protein_coding chr16:53878094 chr16:53878098 nonsynonymous SNV 0.101 0 25 hm5C_associated_SNPs_106417 1 Uncertain significance Growth retardation, developmental delay, coarse facies, and early death RCV000266601.1
3875 chr16 227039 227039 1 + C A rs1060339 227035 + 227015 227055 41 GAAGGTGGCCGACGCGCTGACCAACGCCGTGGCGCACGTGG GAAGGTGGCCGACGCGCTGACCAAAGCCGTGGCGCACGTGG < 41bp 0.369792092916672 0.760533092356042 0.052032262 0.07618195 prediction 0.521066184712085 Functional Gain - HBA1 ENSG00000206172 CDS Human protein_coding chr16:227035 chr16:227039 nonsynonymous SNV 0.003 1 25 hm5C_associated_SNPs_106433 1 Pathogenic alpha Thalassemia RCV000417227.1
3875 chr13 43148546 43148546 1 + C G rs138818878 43148542 + 43148522 43148562 41 GCCCCCTGCACGCCCCGCCGCCGCCTGCGCCGCACCAGCCC GCCCCCTGCACGCCCCGCCGCCGCGTGCGCCGCACCAGCCC < 41bp 0.539568928976966 0.800028374215849 0.17052755 0.4681383 prediction 0.520918890477767 Functional Gain - TNFSF11 ENSG00000120659 CDS Human protein_coding chr13:43148542 chr13:43148546 nonsynonymous SNV 0.014 0 25 hm5C_associated_SNPs_106451 1 Likely benign Osteopetrosis RCV000338886.1
3875 chr1 201252715 201252715 1 + C G rs149821471 201252714 + 201252694 201252734 41 GCGGACCACGCACTCTATGGCCGTAGGGAGCCGCTGAGAGC GCGGACCACGCACTCTATGGCGGTAGGGAGCCGCTGAGAGC < 41bp 0.524924199749672 0.785285180850359 0.54178894 0.89848834 prediction 0.520721962201375 Functional Gain - PKP1 ENSG00000081277 UTR5 Human protein_coding chr1:201252714 chr1:201252715 . . 0 22 hm5C_associated_SNPs_106466 1 Uncertain significance Ectodermal dysplasia skin fragility syndrome RCV000300872.1
3875 chrX 49103973 49103973 1 + C A rs183877705 49103969 + 49103949 49103989 41 CCCCTTAGGAGCCCCAGGCCCAGGCCACTCAGGTGTCAGAT CCCCTTAGGAGCCCCAGGCCCAGGACACTCAGGTGTCAGAT < 41bp 0.654289996910209 0.913953393908134 0.75557244 0.9204824 prediction 0.519326793995852 Functional Gain - CCDC22 ENSG00000101997 CDS Human protein_coding chrX:49103969 chrX:49103973 nonsynonymous SNV 0.930 1 25 hm5C_associated_SNPs_106576 1 Likely benign not specified RCV000502625.1
3875 chr1 236917339 236917339 1 + C A rs144680712 236917335 + 236917315 236917355 41 GCGTCTGAGGCGCCAGTTTGCTGCCCAAGCCAATGCCATTG GCGTCTGAGGCGCCAGTTTGCTGCACAAGCCAATGCCATTG < 41bp 0.666318903313179 0.925892083211254 0.19874209 0.22738749 prediction 0.51914635979615 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236917335 chr1:236917339 synonymous SNV . 0 25 hm5C_associated_SNPs_106587 3 Benign not specified RCV000036891.3
3875 chr1 236917339 236917339 1 + C A rs144680712 236917335 + 236917315 236917355 41 GCGTCTGAGGCGCCAGTTTGCTGCCCAAGCCAATGCCATTG GCGTCTGAGGCGCCAGTTTGCTGCACAAGCCAATGCCATTG < 41bp 0.666318903313179 0.925892083211254 0.19874209 0.22738749 prediction 0.51914635979615 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236917335 chr1:236917339 synonymous SNV . 0 25 hm5C_associated_SNPs_106587 3 Benign Dilated cardiomyopathy 1AA RCV000470109.1
3875 chr1 236917339 236917339 1 + C A rs144680712 236917335 + 236917315 236917355 41 GCGTCTGAGGCGCCAGTTTGCTGCCCAAGCCAATGCCATTG GCGTCTGAGGCGCCAGTTTGCTGCACAAGCCAATGCCATTG < 41bp 0.666318903313179 0.925892083211254 0.19874209 0.22738749 prediction 0.51914635979615 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236917335 chr1:236917339 synonymous SNV . 0 25 hm5C_associated_SNPs_106587 3 Benign Primary familial hypertrophic cardiomyopathy RCV000470109.1
3875 chr8 38854660 38854660 1 + C A rs148707472 38854656 + 38854636 38854676 41 GTTGCTTGGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGC GTTGCTTGGCCTGGTGGGCCCAGTACTCGGTGCGGCGCGGC < 41bp 0.635514246080476 0.894788574826146 0.48233104 0.8330982 prediction 0.51854865749134 Functional Gain - ADAM9 ENSG00000168615 CDS Human protein_coding chr8:38854656 chr8:38854660 synonymous SNV . 0 25 hm5C_associated_SNPs_106633 2 Benign not specified RCV000244839.1
3875 chr8 38854660 38854660 1 + C A rs148707472 38854656 + 38854636 38854676 41 GTTGCTTGGCCTGGTGGGCCCAGTCCTCGGTGCGGCGCGGC GTTGCTTGGCCTGGTGGGCCCAGTACTCGGTGCGGCGCGGC < 41bp 0.635514246080476 0.894788574826146 0.48233104 0.8330982 prediction 0.51854865749134 Functional Gain - ADAM9 ENSG00000168615 CDS Human protein_coding chr8:38854656 chr8:38854660 synonymous SNV . 0 25 hm5C_associated_SNPs_106633 2 Likely benign Cone-Rod Dystrophy, Recessive RCV000379978.1
3875 chr21 47552532 47552532 1 + C G rs568256520 47552531 + 47552511 47552551 41 GTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCA GTCCATGGTGCTAAGCGGGCCGGGGTCCCACACGGCCAGCA < 41bp 0.554819056099478 0.814049441474265 0.4075933 0.89620984 prediction 0.518460770749574 Functional Gain - COL6A2 ENSG00000142173 UTR3 Human protein_coding chr21:47552531 chr21:47552532 . . 0 22 hm5C_associated_SNPs_106642 2 Likely benign Myosclerosis RCV000348351.1
3875 chr21 47552532 47552532 1 + C G rs568256520 47552531 + 47552511 47552551 41 GTCCATGGTGCTAAGCGGGCCCGGGTCCCACACGGCCAGCA GTCCATGGTGCTAAGCGGGCCGGGGTCCCACACGGCCAGCA < 41bp 0.554819056099478 0.814049441474265 0.4075933 0.89620984 prediction 0.518460770749574 Functional Gain - COL6A2 ENSG00000142173 UTR3 Human protein_coding chr21:47552531 chr21:47552532 . . 0 22 hm5C_associated_SNPs_106642 2 Likely benign Collagen VI-related myopathy RCV000399452.1
3875 chrX 70444443 70444443 1 + C A rs113014279 70444439 + 70444419 70444459 41 CCAGGCAACCTCCCATCCCACCCCCGACCCTGCCCTGGGCG CCAGGCAACCTCCCATCCCACCCCAGACCCTGCCCTGGGCG < 41bp 0.349386543049935 0.758182211752087 0.07312155 0.07888678 prediction 0.516364423504174 Functional Gain - BCYRN1 ENSG00000169562 UTR3 Human protein_coding chrX:70444439 chrX:70444443 . . 0 25 hm5C_associated_SNPs_106819 1 Benign Charcot-Marie-Tooth, X-linked RCV000390006.1
3875 chr20 61467564 61467564 1 + C G rs142066316 61467563 + 61467543 61467583 41 GCAGTCGAGGGGAGCTGGGCCCCAAAGGCACCCAGGGTCCC GCAGTCGAGGGGAGCTGGGCCGCAAAGGCACCCAGGGTCCC < 41bp 0.449918335601741 0.757594283656117 0.13736469 0.3616957 prediction 0.515188567312235 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61467563 chr20:61467564 nonsynonymous SNV 0.999 5 22 hm5C_associated_SNPs_106930 2 Benign not specified RCV000242013.1
3875 chr20 61467564 61467564 1 + C G rs142066316 61467563 + 61467543 61467583 41 GCAGTCGAGGGGAGCTGGGCCCCAAAGGCACCCAGGGTCCC GCAGTCGAGGGGAGCTGGGCCGCAAAGGCACCCAGGGTCCC < 41bp 0.449918335601741 0.757594283656117 0.13736469 0.3616957 prediction 0.515188567312235 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61467563 chr20:61467564 nonsynonymous SNV 0.999 5 22 hm5C_associated_SNPs_106930 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000389715.1
3875 chr20 61455823 61455823 1 + C T rs150148851 61455822 + 61455802 61455842 41 AAGTATCTGCCCGCCAGGTCCCCCAGGGCCCCCTGGAATGC AAGTATCTGCCCGCCAGGTCCTCCAGGGCCCCCTGGAATGC < 41bp 0.535001126985632 0.792210622602748 0.05994287 0.9498712 prediction 0.514418991234233 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61455822 chr20:61455823 synonymous SNV . 0 22 hm5C_associated_SNPs_106991 2 Benign not specified RCV000242901.1
3875 chr20 61455823 61455823 1 + C T rs150148851 61455822 + 61455802 61455842 41 AAGTATCTGCCCGCCAGGTCCCCCAGGGCCCCCTGGAATGC AAGTATCTGCCCGCCAGGTCCTCCAGGGCCCCCTGGAATGC < 41bp 0.535001126985632 0.792210622602748 0.05994287 0.9498712 prediction 0.514418991234233 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61455822 chr20:61455823 synonymous SNV . 0 22 hm5C_associated_SNPs_106991 2 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000289315.1
3875 chr18 72593032 72593032 1 + C G rs34940122 72593028 + 72593008 72593048 41 GTGTGACCTCTGCGGCTTTGCCGGCGGGACCCGCCACGCCC GTGTGACCTCTGCGGCTTTGCCGGGGGGACCCGCCACGCCC < 41bp 0.545735207229435 0.802519454547979 0.913412 0.9538634 prediction 0.513568494637088 Functional Gain - ZNF407 ENSG00000215421 CDS Human protein_coding chr18:72593028 chr18:72593032 synonymous SNV . 0 25 hm5C_associated_SNPs_107073 1 Likely benign not specified RCV000193224.1
3875 chr17 40932955 40932955 1 + C A rs61754326 40932951 + 40932931 40932971 41 CTTGGTCCCTGCCAGCCTCACCCGCTCCGGACCCCCCCGAT CTTGGTCCCTGCCAGCCTCACCCGATCCGGACCCCCCCGAT < 41bp 0.355468477580676 0.756618860067401 0.26803014 0.27068633 prediction 0.513237720134803 Functional Gain - WNK4 ENSG00000126562 CDS Human protein_coding chr17:40932951 chr17:40932955 nonsynonymous SNV 0.008 1 25 hm5C_associated_SNPs_107105 1 Benign Pseudohypoaldosteronism, type 2 RCV000371996.1
3875 chr11 128782002 128782002 1 + T C rs7118833 128782000 + 128781980 128782020 41 TGTCTCCTCTGATCATCTCCCATGAGATCAACCAGAAGAGC TGTCTCCTCTGATCATCTCCCACGAGATCAACCAGAAGAGC < 41bp 0.536362634997985 0.792302016784917 0.1309698 0.14353946 prediction 0.511878763573863 Functional Gain - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128782000 chr11:128782002 synonymous SNV . 0 23 hm5C_associated_SNPs_107215 3 Benign not specified RCV000126423.4
3875 chr11 128782002 128782002 1 + T C rs7118833 128782000 + 128781980 128782020 41 TGTCTCCTCTGATCATCTCCCATGAGATCAACCAGAAGAGC TGTCTCCTCTGATCATCTCCCACGAGATCAACCAGAAGAGC < 41bp 0.536362634997985 0.792302016784917 0.1309698 0.14353946 prediction 0.511878763573863 Functional Gain - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128782000 chr11:128782002 synonymous SNV . 0 23 hm5C_associated_SNPs_107215 3 Benign Familial hyperaldosteronism RCV000295128.1
3875 chr11 128782002 128782002 1 + T C rs7118833 128782000 + 128781980 128782020 41 TGTCTCCTCTGATCATCTCCCATGAGATCAACCAGAAGAGC TGTCTCCTCTGATCATCTCCCACGAGATCAACCAGAAGAGC < 41bp 0.536362634997985 0.792302016784917 0.1309698 0.14353946 prediction 0.511878763573863 Functional Gain - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128782000 chr11:128782002 synonymous SNV . 0 23 hm5C_associated_SNPs_107215 3 Benign Romano-Ward syndrome RCV000345335.1
3875 chr15 77324734 77324734 1 + C G rs149195362 77324733 + 77324713 77324753 41 GAGCACGGGCACAGAGCCCCCCGGTGAGGTCCGGCTTGCGG GAGCACGGGCACAGAGCCCCCGGGTGAGGTCCGGCTTGCGG < 41bp 0.597226410037591 0.852382022410975 0.20740786 0.8420017 prediction 0.510311224746768 Functional Gain - PSTPIP1 ENSG00000140368 CDS Human protein_coding chr15:77324733 chr15:77324734 synonymous SNV . 0 22 hm5C_associated_SNPs_107339 1 Likely benign not specified RCV000442119.1
3875 chr19 41903699 41903699 1 + T G rs45500792 41903697 + 41903677 41903717 41 GCAGCCCCGAATCTAGCCTACGTGAGTGCCGGACCGCTGAG GCAGCCCCGAATCTAGCCTACGGGAGTGCCGGACCGCTGAG < 41bp 0.629974971249393 0.884734176507165 0.73535174 0.8823391 prediction 0.509518410515543 Functional Gain - BCKDHA ENSG00000248098 UTR5 Human protein_coding chr19:41903697 chr19:41903699 . . 0 23 hm5C_associated_SNPs_107409 2 other not specified RCV000079215.6
3875 chr19 41903699 41903699 1 + T G rs45500792 41903697 + 41903677 41903717 41 GCAGCCCCGAATCTAGCCTACGTGAGTGCCGGACCGCTGAG GCAGCCCCGAATCTAGCCTACGGGAGTGCCGGACCGCTGAG < 41bp 0.629974971249393 0.884734176507165 0.73535174 0.8823391 prediction 0.509518410515543 Functional Gain - BCKDHA ENSG00000248098 UTR5 Human protein_coding chr19:41903697 chr19:41903699 . . 0 23 hm5C_associated_SNPs_107409 2 Likely benign Maple syrup urine disease RCV000337766.1
3875 chr6 3154871 3154871 1 + A C rs17849443 3154874 - 3154854 3154894 41 GAGCCCTACAACGCCACCCTCTCTGTCCACCAGCTGGTGGA GAGCCCTACAACGCCACCCTCTCGGTCCACCAGCTGGTGGA < 41bp 0.362485186732801 0.754506321724981 0.04330027 0.260579 prediction 0.509012643449962 Functional Gain - TUBB2A ENSG00000137267 CDS Human protein_coding chr6:3154874 chr6:3154871 synonymous SNV . 0 24 hm5C_associated_SNPs_107465 1 Benign not specified RCV000439949.1
3875 chr15 40711270 40711270 1 + C G rs2075625 40711266 + 40711246 40711286 41 AATTACTTGAACCCAGGAGGCGGACGTTGCAGTGAGCCGAG AATTACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAG < 41bp 0.564773652375691 0.818809815343552 0.9091654 0.93673563 prediction 0.508072325935722 Functional Gain - IVD ENSG00000128928 UTR3 Human protein_coding chr15:40711266 chr15:40711270 . . 0 25 hm5C_associated_SNPs_107545 1 Benign Isovaleryl-CoA dehydrogenase deficiency RCV000310233.1
3875 chr1 11333542 11333542 1 + T G rs72856992 11333539 + 11333519 11333559 41 CTTCCTCCTTCCCGGGCGGTCACTGTGCGTGGCTCACTTTT CTTCCTCCTTCCCGGGCGGTCACGGTGCGTGGCTCACTTTT < 41bp 0.466556930912652 0.753530768488815 0.10683814 0.6845044 prediction 0.507061536977631 Functional Gain - UBIAD1 ENSG00000120942 UTR5 Human protein_coding chr1:11333539 chr1:11333542 . . 0 24 hm5C_associated_SNPs_107636 1 Benign Schnyder crystalline corneal dystrophy RCV000320369.1
3875 chr13 77566320 77566320 1 + C G rs138037471 77566319 + 77566299 77566339 41 ACGCGCTTCCTGGTGCTGGGCCCTGGCGCTGCTTTGGCTCG ACGCGCTTCCTGGTGCTGGGCGCTGGCGCTGCTTTGGCTCG < 41bp 0.461681948787391 0.753337184162327 0.2196314 0.3342575 prediction 0.506674368324654 Functional Gain - CLN5 ENSG00000102805 CDS Human protein_coding chr13:77566319 chr13:77566320 synonymous SNV . 0 22 hm5C_associated_SNPs_107676 3 other not specified RCV000081416.9
3875 chr13 77566320 77566320 1 + C G rs138037471 77566319 + 77566299 77566339 41 ACGCGCTTCCTGGTGCTGGGCCCTGGCGCTGCTTTGGCTCG ACGCGCTTCCTGGTGCTGGGCGCTGGCGCTGCTTTGGCTCG < 41bp 0.461681948787391 0.753337184162327 0.2196314 0.3342575 prediction 0.506674368324654 Functional Gain - CLN5 ENSG00000102805 CDS Human protein_coding chr13:77566319 chr13:77566320 synonymous SNV . 0 22 hm5C_associated_SNPs_107676 3 Benign Neuronal ceroid lipofuscinosis RCV000234275.2
3875 chr13 77566320 77566320 1 + C G rs138037471 77566319 + 77566299 77566339 41 ACGCGCTTCCTGGTGCTGGGCCCTGGCGCTGCTTTGGCTCG ACGCGCTTCCTGGTGCTGGGCGCTGGCGCTGCTTTGGCTCG < 41bp 0.461681948787391 0.753337184162327 0.2196314 0.3342575 prediction 0.506674368324654 Functional Gain - CLN5 ENSG00000102805 CDS Human protein_coding chr13:77566319 chr13:77566320 synonymous SNV . 0 22 hm5C_associated_SNPs_107676 3 Likely benign Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive RCV000365818.1
3875 chr22 44322843 44322843 1 + T C rs147412464 44322841 + 44322821 44322861 41 CTCTGCAGGTCCTCTCAGATCTTGTGCGGAAGGCCAGGAGT CTCTGCAGGTCCTCTCAGATCTCGTGCGGAAGGCCAGGAGT < 41bp 0.526230702105507 0.779439872741746 0.46765822 0.7275839 prediction 0.506418341272477 Functional Gain - PNPLA3 ENSG00000100344 CDS Human protein_coding chr22:44322841 chr22:44322843 nonsynonymous SNV . 0 23 hm5C_associated_SNPs_107713 1 Uncertain significance Susceptibility to Nonalcoholic Fatty Liver Disease RCV000349396.1
3875 chr13 111160463 111160463 1 + G T rs59395531 111160467 - 111160447 111160487 41 GATGGCGATGGCCGGGGCCTCACACACAGAACAGCGGCTGA GATGGCGATGGCCGGGGCCTCACAAACAGAACAGCGGCTGA < 41bp 0.664082747141755 0.91720177461444 0.11614138 0.19915342 prediction 0.506238054945371 Functional Gain - COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111160467 chr13:111160463 synonymous SNV . 0 25 hm5C_associated_SNPs_107737 1 Likely benign Porencephaly RCV000286091.1
3875 chr12 8995829 8995829 1 + C T UCEC 8995828 + 8995808 8995848 41 CGACCCTTCTACAGCACAACCCGCAGCTTCCTTGGCATCCA CGACCCTTCTACAGCACAACCTGCAGCTTCCTTGGCATCCA < 41bp 0.510309462785099 0.762766834273507 0.22605631 0.18147296 prediction 0.504914742976815 Functional Gain - A2ML1 ENSG00000166535 CDS Human protein_coding chr12:8995828 chr12:8995829 nonsynonymous SNV 0.180 2 22 hm5C_associated_SNPs_107870 1 Uncertain significance not specified RCV000470059.1
3875 chrX 48340877 48340877 1 + C T COAD 48340876 + 48340856 48340896 41 CTGAGCTCCTATGATTCGGACCGCAGTTACCCACTGGACGT CTGAGCTCCTATGATTCGGACTGCAGTTACCCACTGGACGT < 41bp 0.502966415794981 0.755002502510259 0.21878597 0.16019452 prediction 0.504072173430555 Functional Gain - FTSJ1 ENSG00000068438 CDS Human protein_coding chrX:48340876 chrX:48340877 nonsynonymous SNV 0.858 0 22 hm5C_associated_SNPs_107962 1 Uncertain significance Mental retardation 9, X-linked RCV000496850.1
3875 chr2 74757613 74757613 1 + C G rs2231248 74757609 + 74757589 74757629 41 TGTGGTGGAGAAGACAGCACCTGCCGTGGTCTATATCGAGA TGTGGTGGAGAAGACAGCACCTGCGGTGGTCTATATCGAGA < 41bp 0.476360069961324 0.751823489779991 0.09313175 0.22066742 prediction 0.503646979559982 Functional Gain - HTRA2 ENSG00000115317 CDS Human protein_coding chr2:74757609 chr2:74757613 synonymous SNV . 0 25 hm5C_associated_SNPs_108005 1 Likely benign Parkinson Disease, Dominant RCV000399375.1
3875 chr11 22296233 22296233 1 + T G rs146136277 22296231 + 22296211 22296251 41 AATAATAGCCTGTCAGTATTCCTGATAGCTGATTTTCCAAA AATAATAGCCTGTCAGTATTCCGGATAGCTGATTTTCCAAA < 41bp 0.416591534408897 0.751336263536889 0.24097213 0.79641163 prediction 0.502672527073778 Functional Gain - ANO5 ENSG00000171714 CDS Human protein_coding chr11:22296231 chr11:22296233 nonsynonymous SNV 0.999 1 23 hm5C_associated_SNPs_108104 2 other not specified RCV000251079.2
3875 chr11 22296233 22296233 1 + T G rs146136277 22296231 + 22296211 22296251 41 AATAATAGCCTGTCAGTATTCCTGATAGCTGATTTTCCAAA AATAATAGCCTGTCAGTATTCCGGATAGCTGATTTTCCAAA < 41bp 0.416591534408897 0.751336263536889 0.24097213 0.79641163 prediction 0.502672527073778 Functional Gain - ANO5 ENSG00000171714 CDS Human protein_coding chr11:22296231 chr11:22296233 nonsynonymous SNV 0.999 1 23 hm5C_associated_SNPs_108104 2 Likely benign not provided RCV000429535.1
3875 chr12 110719192 110719192 1 + C G rs3026433 110719188 + 110719168 110719208 41 CGCCCCGCCGGCTCGCCTCCCTCGCCGCGTTCCGCCCTCAG CGCCCCGCCGGCTCGCCTCCCTCGGCGCGTTCCGCCCTCAG < 41bp 0.529627320431995 0.779273261381602 0.027076036 0.0709438 prediction 0.499291881899214 Functional Gain - ATP2A2 ENSG00000174437 UTR5 Human protein_coding chr12:110719188 chr12:110719192 . . 0 25 hm5C_associated_SNPs_108485 1 Benign Keratosis follicularis RCV000276543.1
3875 chr1 46870761 46870761 1 + C A rs324420 46870760 + 46870740 46870780 41 GAGACTCAGCTGTCTCAGGCCCCAAGGCAGGGCCTGCTCTA GAGACTCAGCTGTCTCAGGCCACAAGGCAGGGCCTGCTCTA < 41bp 0.517621439447338 0.76725686046891 0.4309322 0.65544474 prediction 0.499270842043144 Functional Gain - FAAH ENSG00000117480 CDS Human protein_coding chr1:46870760 chr1:46870761 nonsynonymous SNV 0.965 0 22 hm5C_associated_SNPs_108486 1 other Polysubstance abuse, susceptibility to RCV000007116.3
3875 chr9 130981392 130981392 1 + C G rs143834670 130981388 + 130981368 130981408 41 GGTCCCGGTGGGGGACCAACCTCCCGACATCGAGTTCCAGA GGTCCCGGTGGGGGACCAACCTCCGGACATCGAGTTCCAGA < 41bp 0.574420222705858 0.8240465587231 0.22819969 0.40392214 prediction 0.499252672034483 Functional Gain - DNM1 ENSG00000106976 CDS Human protein_coding chr9:130981388 chr9:130981392 synonymous SNV . 0 25 hm5C_associated_SNPs_108488 1 Likely benign not specified RCV000425866.1
3875 chr10 8116012 8116012 1 + C G rs200946839 8116011 + 8115991 8116031 41 CTGCTCGATGCTCACAGGGCCCCCAGCGAGAGTCCCTGCAG CTGCTCGATGCTCACAGGGCCGCCAGCGAGAGTCCCTGCAG < 41bp 0.604746616845054 0.85426378394758 0.0037763715 0.060471594 prediction 0.499034334205052 Functional Gain - GATA3 ENSG00000107485 UTR3 Human protein_coding chr10:8116011 chr10:8116012 . . 0 22 hm5C_associated_SNPs_108526 1 Likely benign Barakat syndrome RCV000308952.1
3875 chr4 56212404 56212404 1 + C G rs188248575 56212403 + 56212383 56212423 41 CCGCGCCGCGTCACCGACGTCCCGCTAGGCTGAGACCGGTG CCGCGCCGCGTCACCGACGTCGCGCTAGGCTGAGACCGGTG < 41bp 0.582520123647957 0.831956434952629 0.13416743 0.32771692 prediction 0.498872622609345 Functional Gain - SRD5A3 ENSG00000128039 UTR5 Human protein_coding chr4:56212403 chr4:56212404 . . 0 22 hm5C_associated_SNPs_108551 1 Uncertain significance Congenital disorder of glycosylation RCV000335923.1
3875 chr1 10659338 10659338 1 + C G rs41274482 10659334 + 10659314 10659354 41 TGATATGGCCTTCCAGCAGTCGGGCACTGCTGCCGATGAGC TGATATGGCCTTCCAGCAGTCGGGGACTGCTGCCGATGAGC < 41bp 0.583535297107402 0.832933290767987 0.85385 0.93982863 prediction 0.498795987321169 Functional Gain - PEX14 ENSG00000142655 CDS Human protein_coding chr1:10659334 chr1:10659338 synonymous SNV . 0 25 hm5C_associated_SNPs_108557 2 Likely benign not specified RCV000245244.1
3875 chr1 10659338 10659338 1 + C G rs41274482 10659334 + 10659314 10659354 41 TGATATGGCCTTCCAGCAGTCGGGCACTGCTGCCGATGAGC TGATATGGCCTTCCAGCAGTCGGGGACTGCTGCCGATGAGC < 41bp 0.583535297107402 0.832933290767987 0.85385 0.93982863 prediction 0.498795987321169 Functional Gain - PEX14 ENSG00000142655 CDS Human protein_coding chr1:10659334 chr1:10659338 synonymous SNV . 0 25 hm5C_associated_SNPs_108557 2 Uncertain significance Zellweger syndrome RCV000368456.1
3875 chr9 130428462 130428462 1 + C G rs553892771 130428458 + 130428438 130428478 41 CCCCCAGGGCCCAGACAAGGCACGCTCCCAGCTCCTGATCC CCCCCAGGGCCCAGACAAGGCACGGTCCCAGCTCCTGATCC < 41bp 0.594447270462734 0.843814982247592 0.04448256 0.25230777 prediction 0.498735423569716 Functional Gain - STXBP1 ENSG00000136854 CDS Human protein_coding chr9:130428458 chr9:130428462 synonymous SNV . 0 25 hm5C_associated_SNPs_108565 1 Benign not specified RCV000189587.1
3875 chr21 47542060 47542060 1 + C G rs112197239 47542059 + 47542039 47542079 41 TGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGTGAGTC TGGATTCAGCTACCCAGGACCGCGAGGAGCACCCGTGAGTC < 41bp 0.613056919647533 0.862399561851948 0.263722 0.627656 prediction 0.498685284408831 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47542059 chr21:47542060 synonymous SNV . 0 22 hm5C_associated_SNPs_108573 3 Likely benign Collagen VI-related myopathy RCV000331357.1
3875 chr21 47542060 47542060 1 + C G rs112197239 47542059 + 47542039 47542079 41 TGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGTGAGTC TGGATTCAGCTACCCAGGACCGCGAGGAGCACCCGTGAGTC < 41bp 0.613056919647533 0.862399561851948 0.263722 0.627656 prediction 0.498685284408831 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47542059 chr21:47542060 synonymous SNV . 0 22 hm5C_associated_SNPs_108573 3 Likely benign Myosclerosis RCV000386430.1
3875 chr21 47542060 47542060 1 + C G rs112197239 47542059 + 47542039 47542079 41 TGGATTCAGCTACCCAGGACCCCGAGGAGCACCCGTGAGTC TGGATTCAGCTACCCAGGACCGCGAGGAGCACCCGTGAGTC < 41bp 0.613056919647533 0.862399561851948 0.263722 0.627656 prediction 0.498685284408831 Functional Gain - COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47542059 chr21:47542060 synonymous SNV . 0 22 hm5C_associated_SNPs_108573 3 Likely benign not specified RCV000404672.1
3875 chr9 100616583 100616583 1 + T C rs3021523 100616581 + 100616561 100616601 41 GTAAGGGCAACTACTGGGCGCTTGACCCCAACGCGGAGGAC GTAAGGGCAACTACTGGGCGCTCGACCCCAACGCGGAGGAC < 41bp 0.503048684905296 0.752109592091807 0.08068848 0.06914449 prediction 0.498121814373022 Functional Gain - FOXE1 ENSG00000178919 CDS Human protein_coding chr9:100616581 chr9:100616583 synonymous SNV . 0 23 hm5C_associated_SNPs_108636 1 Benign not specified RCV000081101.5
3875 chr14 37126843 37126843 1 + C G rs374248332 37126839 + 37126819 37126859 41 GCCCGTGGGGCTGATCCCACCTCCCGCAGGGCTCCGGTCGT GCCCGTGGGGCTGATCCCACCTCCGGCAGGGCTCCGGTCGT < 41bp 0.556652950921288 0.805672429567238 0.047516584 0.09211409 prediction 0.4980389572919 Functional Gain - PAX9 ENSG00000258661 ncRNA_intronic Human antisense chr14:37126839 chr14:37126843 . . 0 25 hm5C_associated_SNPs_108646 1 Uncertain significance Selective tooth agenesis RCV000403117.1
3875 chr1 27120626 27120626 1 + C T rs139246652 27120625 + 27120605 27120645 41 CCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCC CCCTCTTCAATGCCATCATCCTAGATCACCATGCAGAAGCC < 41bp 0.497047153914633 0.748290524338356 0.22997227 0.16475794 prediction 0.496581048676713 Functional Gain - PIGV ENSG00000060642 CDS Human protein_coding chr1:27120625 chr1:27120626 stopgain 0.993 5 22 hm5C_associated_SNPs_108800 2 Uncertain significance Hyperphosphatasia with Intellectual Disability Syndrome RCV000327702.1
3875 chr1 27120626 27120626 1 + C T rs139246652 27120625 + 27120605 27120645 41 CCCTCTTCAATGCCATCATCCCAGATCACCATGCAGAAGCC CCCTCTTCAATGCCATCATCCTAGATCACCATGCAGAAGCC < 41bp 0.497047153914633 0.748290524338356 0.22997227 0.16475794 prediction 0.496581048676713 Functional Gain - PIGV ENSG00000060642 CDS Human protein_coding chr1:27120625 chr1:27120626 stopgain 0.993 5 22 hm5C_associated_SNPs_108800 2 Likely benign not specified RCV000427983.1
3875 chr10 75871735 75871735 1 + C G rs2131956 75871731 + 75871711 75871751 41 GGCAGATGCGGCCGATGCTGCTGGCTTCCCTGTCCCCCCTG GGCAGATGCGGCCGATGCTGCTGGGTTCCCTGTCCCCCCTG < 41bp 0.596883220878103 0.84445370233098 0.83371305 0.8811392 prediction 0.495140962905754 Functional Gain - VCL ENSG00000035403 CDS Human protein_coding chr10:75871731 chr10:75871735 synonymous SNV . 0 25 hm5C_associated_SNPs_108973 4 Benign,Benign not specified,not specified RCV000152651.1,RCV000038817.4
3875 chr10 75871735 75871735 1 + C G rs2131956 75871731 + 75871711 75871751 41 GGCAGATGCGGCCGATGCTGCTGGCTTCCCTGTCCCCCCTG GGCAGATGCGGCCGATGCTGCTGGGTTCCCTGTCCCCCCTG < 41bp 0.596883220878103 0.84445370233098 0.83371305 0.8811392 prediction 0.495140962905754 Functional Gain - VCL ENSG00000035403 CDS Human protein_coding chr10:75871731 chr10:75871735 synonymous SNV . 0 25 hm5C_associated_SNPs_108973 4 Benign Cardiovascular phenotype RCV000243471.1
3875 chr10 75871735 75871735 1 + C G rs2131956 75871731 + 75871711 75871751 41 GGCAGATGCGGCCGATGCTGCTGGCTTCCCTGTCCCCCCTG GGCAGATGCGGCCGATGCTGCTGGGTTCCCTGTCCCCCCTG < 41bp 0.596883220878103 0.84445370233098 0.83371305 0.8811392 prediction 0.495140962905754 Functional Gain - VCL ENSG00000035403 CDS Human protein_coding chr10:75871731 chr10:75871735 synonymous SNV . 0 25 hm5C_associated_SNPs_108973 4 Likely benign Dilated Cardiomyopathy, Dominant RCV000340107.1
3875 chr17 26725280 26725280 1 + G T rs141940033 26725281 - 26725261 26725301 41 GGACAACAGTGGAGGGTATACCAAATAGAAATAAAACGCAG GGACAACAGTGGAGGGTATACAAAATAGAAATAAAACGCAG < 41bp 0.503503963497102 0.751062398336641 0.6143588 0.37916112 prediction 0.495116869679078 Functional Gain - SARM1;SLC46A1 ENSG00000004139;ENSG00000076351 UTR3 Human other chr17:26725281 chr17:26725280 . . 0 22 hm5C_associated_SNPs_108976 1 Uncertain significance Congenital defect of folate absorption RCV000267232.1
3875 chr17 40948304 40948304 1 + C A rs200519604 40948303 + 40948283 40948323 41 GGCAGCTTCCCCACCTCCCGCCGCAACAGCCTACAGCGCTC GGCAGCTTCCCCACCTCCCGCAGCAACAGCCTACAGCGCTC < 41bp 0.495049766299591 0.747427883721053 0.3481494 0.7797966 prediction 0.494855767442106 Functional Gain - WNK4 ENSG00000126562 CDS Human protein_coding chr17:40948303 chr17:40948304 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_109019 1 Likely benign Pseudohypoaldosteronism, type 2 RCV000393657.1
3875 chr6 36270130 36270130 1 + C A rs12199580 36270129 + 36270109 36270149 41 ACTCTCAGGCACCCACTTCACCCAGGCCATCCCTGGGGCCT ACTCTCAGGCACCCACTTCACACAGGCCATCCCTGGGGCCT < 41bp 0.54429539434284 0.791278813683387 0.16482687 0.21174705 prediction 0.493966838681094 Functional Gain - PNPLA1 ENSG00000180316 CDS Human protein_coding chr6:36270129 chr6:36270130 nonsynonymous SNV 0.015 0 22 hm5C_associated_SNPs_109134 2 Benign not specified RCV000245400.1
3875 chr6 36270130 36270130 1 + C A rs12199580 36270129 + 36270109 36270149 41 ACTCTCAGGCACCCACTTCACCCAGGCCATCCCTGGGGCCT ACTCTCAGGCACCCACTTCACACAGGCCATCCCTGGGGCCT < 41bp 0.54429539434284 0.791278813683387 0.16482687 0.21174705 prediction 0.493966838681094 Functional Gain - PNPLA1 ENSG00000180316 CDS Human protein_coding chr6:36270129 chr6:36270130 nonsynonymous SNV 0.015 0 22 hm5C_associated_SNPs_109134 2 Benign Congenital ichthyosiform erythroderma RCV000289844.1
3875 chr14 74167512 74167512 1 + T G rs77394145 74167510 + 74167490 74167530 41 TGTTTAATGTGTCTGTAAATCATGAAATATAAAAGCAAGAT TGTTTAATGTGTCTGTAAATCAGGAAATATAAAAGCAAGAT < 41bp 0.553418000291024 0.800194939109758 0.26296675 0.8234179 prediction 0.493553877637467 Functional Gain - DNAL1 ENSG00000119661 UTR3 Human protein_coding chr14:74167510 chr14:74167512 . . 0 23 hm5C_associated_SNPs_109195 1 Uncertain significance Primary ciliary dyskinesia RCV000398671.1
3875 chr1 156100489 156100489 1 + C T rs80356805 156100488 + 156100468 156100508 41 TCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCA TCTGCTGAACTCCAAGGAGGCTGCACTGAGCACTGCTCTCA < 41bp 0.509421188672269 0.755955421436761 0.1837554 0.24213412 prediction 0.493068465528983 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100488 chr1:156100489 synonymous SNV . 0 22 hm5C_associated_SNPs_109256 2 other not specified RCV000041349.7
3875 chr1 156100489 156100489 1 + C T rs80356805 156100488 + 156100468 156100508 41 TCTGCTGAACTCCAAGGAGGCCGCACTGAGCACTGCTCTCA TCTGCTGAACTCCAAGGAGGCTGCACTGAGCACTGCTCTCA < 41bp 0.509421188672269 0.755955421436761 0.1837554 0.24213412 prediction 0.493068465528983 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156100488 chr1:156100489 synonymous SNV . 0 22 hm5C_associated_SNPs_109256 2 Benign Charcot-Marie-Tooth disease, type 2 RCV000461263.1
3875 chr20 30408169 30408169 1 + C T PRAD 30408168 + 30408148 30408188 41 CTGGGCCCCCGGCAGCCCTGCCCCAGCAGACTGCGACACCT CTGGGCCCCCGGCAGCCCTGCTCCAGCAGACTGCGACACCT < 41bp 0.543582539018563 0.79011308050412 0.085329056 0.83402616 prediction 0.493061082971114 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408168 chr20:30408169 nonsynonymous SNV 0.490 1 22 hm5C_associated_SNPs_109257 1 Uncertain significance Familial hypertrophic cardiomyopathy 1 RCV000463181.1
3875 chr3 14176347 14176347 1 + C T rs182464375 14176346 + 14176326 14176366 41 CCTCATGTGGACATCATTCGCCGTGGAGACTTTTTCTACCA CCTCATGTGGACATCATTCGCTGTGGAGACTTTTTCTACCA < 41bp 0.504854823273543 0.751285070347408 0.31418818 0.11783844 prediction 0.492860494147729 Functional Gain - TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14176346 chr3:14176347 nonsynonymous SNV 0.938 2 22 hm5C_associated_SNPs_109296 1 Uncertain significance not specified RCV000183938.2
3875 chr8 48878875 48878875 1 + C T rs142732823 48878874 + 48878854 48878894 41 CGGGTGGAGATGGACCGCGGCCGCATTGCAGAGCCCAGTGT CGGGTGGAGATGGACCGCGGCTGCATTGCAGAGCCCAGTGT < 41bp 0.53852595207275 0.784602990424085 0.3246197 0.39272556 prediction 0.492154076702669 Functional Gain - MCM4 ENSG00000104738 CDS Human protein_coding chr8:48878874 chr8:48878875 nonsynonymous SNV 0.031 4 22 hm5C_associated_SNPs_109402 1 Uncertain significance Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000352214.1
3875 chr3 100455502 100455502 1 + C A rs140669729 100455498 + 100455478 100455518 41 CTCCTCAGCAGCTCACCCACCAGGCGTTCAGCCACAGCAGC CTCCTCAGCAGCTCACCCACCAGGAGTTCAGCCACAGCAGC < 41bp 0.680938149692937 0.926730123252018 0.89172685 0.8893323 prediction 0.491583947118162 Functional Gain - TFG ENSG00000114354 CDS Human protein_coding chr3:100455498 chr3:100455502 synonymous SNV . 0 25 hm5C_associated_SNPs_109475 1 Benign not specified RCV000432881.1
3875 chr17 19552136 19552136 1 + C G rs557068998 19552135 + 19552115 19552155 41 TCGCGGCTGAGCGAGCGAGCCCTGGGCGAGTGAATTGTGGC TCGCGGCTGAGCGAGCGAGCCGTGGGCGAGTGAATTGTGGC < 41bp 0.458113525681813 0.7453339620512 0.27834404 0.804734 prediction 0.490667924102401 Functional Gain - ALDH3A2 ENSG00000072210 UTR5 Human protein_coding chr17:19552135 chr17:19552136 . . 0 22 hm5C_associated_SNPs_109605 1 Uncertain significance Sjögren-Larsson syndrome RCV000310646.1
3875 chr1 183155482 183155482 1 + C A rs684527 183155478 + 183155458 183155498 41 GAGACAGAGACTGAGCGGCCCGGCCCCGCCATGCCTGCGCT GAGACAGAGACTGAGCGGCCCGGCACCGCCATGCCTGCGCT < 41bp 0.51983956415036 0.765090963431059 0.0675917 0.14405784 prediction 0.490502798561398 Functional Gain - LAMC2 ENSG00000058085 UTR5 Human protein_coding chr1:183155478 chr1:183155482 . . 0 25 hm5C_associated_SNPs_109627 1 Benign Epidermolysis bullosa, junctional RCV000371725.1
3875 chrX 99919896 99919896 1 + C A rs150552508 99919895 + 99919875 99919915 41 CACCTGGAAGGTGATCGCAGCCGAATCTGCATGGAAGATGG CACCTGGAAGGTGATCGCAGCAGAATCTGCATGGAAGATGG < 41bp 0.475849455374467 0.744643469445002 0.09417689 0.16444108 prediction 0.489286938890004 Functional Gain - SRPX2 ENSG00000102359 CDS Human protein_coding chrX:99919895 chrX:99919896 synonymous SNV . 0 22 hm5C_associated_SNPs_109816 2 Benign not specified RCV000189546.2
3875 chrX 99919896 99919896 1 + C A rs150552508 99919895 + 99919875 99919915 41 CACCTGGAAGGTGATCGCAGCCGAATCTGCATGGAAGATGG CACCTGGAAGGTGATCGCAGCAGAATCTGCATGGAAGATGG < 41bp 0.475849455374467 0.744643469445002 0.09417689 0.16444108 prediction 0.489286938890004 Functional Gain - SRPX2 ENSG00000102359 CDS Human protein_coding chrX:99919895 chrX:99919896 synonymous SNV . 0 22 hm5C_associated_SNPs_109816 2 Benign Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked RCV000467339.1
3875 chr16 8900254 8900254 1 + C T SKCM 8900253 + 8900233 8900273 41 TACATTGCGAAAATTAAACTCCCGAAGAAGAGGTGGGTTTG TACATTGCGAAAATTAAACTCTCGAAGAAGAGGTGGGTTTG < 41bp 0.485227702366208 0.744541179559154 0.2799936 0.85172945 prediction 0.489082359118309 Functional Gain - PMM2 ENSG00000140650 CDS Human protein_coding chr16:8900253 chr16:8900254 nonsynonymous SNV 0.985 4 22 hm5C_associated_SNPs_109861 1 Uncertain significance not specified RCV000178071.1
3875 chr9 286593 286593 1 + C A rs529208 286589 + 286569 286609 41 GACGACTTGGACGTGGTGTTCACGCCAAAGGAATGTAGGAC GACGACTTGGACGTGGTGTTCACGACAAAGGAATGTAGGAC < 41bp 0.378146607194227 0.743933677353057 0.5633441 0.28163177 prediction 0.487867354706114 Functional Gain - DOCK8 ENSG00000107099 CDS Human protein_coding chr9:286589 chr9:286593 nonsynonymous SNV 0.984 3 25 hm5C_associated_SNPs_110051 3 Benign not specified RCV000155526.2
3875 chr9 286593 286593 1 + C A rs529208 286589 + 286569 286609 41 GACGACTTGGACGTGGTGTTCACGCCAAAGGAATGTAGGAC GACGACTTGGACGTGGTGTTCACGACAAAGGAATGTAGGAC < 41bp 0.378146607194227 0.743933677353057 0.5633441 0.28163177 prediction 0.487867354706114 Functional Gain - DOCK8 ENSG00000107099 CDS Human protein_coding chr9:286589 chr9:286593 nonsynonymous SNV 0.984 3 25 hm5C_associated_SNPs_110051 3 Benign Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive RCV000210057.1
3875 chr9 286593 286593 1 + C A rs529208 286589 + 286569 286609 41 GACGACTTGGACGTGGTGTTCACGCCAAAGGAATGTAGGAC GACGACTTGGACGTGGTGTTCACGACAAAGGAATGTAGGAC < 41bp 0.378146607194227 0.743933677353057 0.5633441 0.28163177 prediction 0.487867354706114 Functional Gain - DOCK8 ENSG00000107099 CDS Human protein_coding chr9:286589 chr9:286593 nonsynonymous SNV 0.984 3 25 hm5C_associated_SNPs_110051 3 Benign Hyper-IgE syndrome RCV000273069.1
3875 chrX 70375069 70375069 1 + C T UCEC 70375068 + 70375048 70375088 41 CCCCTTCTCCTTGCAGACATCCGGGACAGTGGTGCTAAACC CCCCTTCTCCTTGCAGACATCTGGGACAGTGGTGCTAAACC < 41bp 0.504697149685794 0.748331054473617 0.90805036 0.81216455 prediction 0.487267809575648 Functional Gain - NLGN3 ENSG00000196338 CDS Human protein_coding chrX:70375068 chrX:70375069 nonsynonymous SNV 1.000 3 22 hm5C_associated_SNPs_110151 1 Uncertain significance not specified RCV000178320.1
3875 chr19 48344679 48344679 1 + T A rs10418834 48344675 + 48344655 48344695 41 CACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTA CACTGGTGGAACTGGGGTAGCTGCATGGGACGTACCACCTA < 41bp 0.457643498245814 0.743504349275907 0.43202922 0.9084269 prediction 0.487008698551814 Functional Gain - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48344675 chr19:48344679 . . 0 25 hm5C_associated_SNPs_110189 3 Benign Cone-Rod Dystrophy, Dominant RCV000288387.1
3875 chr19 48344679 48344679 1 + T A rs10418834 48344675 + 48344655 48344695 41 CACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTA CACTGGTGGAACTGGGGTAGCTGCATGGGACGTACCACCTA < 41bp 0.457643498245814 0.743504349275907 0.43202922 0.9084269 prediction 0.487008698551814 Functional Gain - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48344675 chr19:48344679 . . 0 25 hm5C_associated_SNPs_110189 3 Benign Retinitis Pigmentosa, Dominant RCV000345755.1
3875 chr19 48344679 48344679 1 + T A rs10418834 48344675 + 48344655 48344695 41 CACTGGTGGAACTGGGGTAGCTGCTTGGGACGTACCACCTA CACTGGTGGAACTGGGGTAGCTGCATGGGACGTACCACCTA < 41bp 0.457643498245814 0.743504349275907 0.43202922 0.9084269 prediction 0.487008698551814 Functional Gain - CRX ENSG00000105392 UTR3 Human protein_coding chr19:48344675 chr19:48344679 . . 0 25 hm5C_associated_SNPs_110189 3 Benign Leber congenital amaurosis RCV000383157.1
3875 chr2 121742232 121742232 1 + C A rs61732850 121742228 + 121742208 121742248 41 CAGTGAGGCCGGCACGGAGCCTGGCGGCCCAGAGAGCACCG CAGTGAGGCCGGCACGGAGCCTGGAGGCCCAGAGAGCACCG < 41bp 0.680718484685025 0.9241422841526 0.622417 0.5902396 prediction 0.486847598935148 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121742228 chr2:121742232 synonymous SNV . 0 25 hm5C_associated_SNPs_110211 2 Likely benign not specified RCV000242538.1
3875 chr2 121742232 121742232 1 + C A rs61732850 121742228 + 121742208 121742248 41 CAGTGAGGCCGGCACGGAGCCTGGCGGCCCAGAGAGCACCG CAGTGAGGCCGGCACGGAGCCTGGAGGCCCAGAGAGCACCG < 41bp 0.680718484685025 0.9241422841526 0.622417 0.5902396 prediction 0.486847598935148 Functional Gain - GLI2 ENSG00000074047 CDS Human protein_coding chr2:121742228 chr2:121742232 synonymous SNV . 0 25 hm5C_associated_SNPs_110211 2 Likely benign Holoprosencephaly RCV000323865.1
3875 chr17 78079597 78079597 1 + A G rs1042393 78079594 + 78079574 78079614 41 CGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCAC CGAGGTGCCCTTGGAGACCCCGCGTGTCCACAGCCGGGCAC < 41bp 0.521478864909387 0.764770006676771 0.050026804 0.1933825 prediction 0.486582283534768 Functional Gain - GAA ENSG00000171298 CDS Human protein_coding chr17:78079594 chr17:78079597 nonsynonymous SNV 0.006 0 24 hm5C_associated_SNPs_110240 2 Benign not specified RCV000078183.6
3875 chr17 78079597 78079597 1 + A G rs1042393 78079594 + 78079574 78079614 41 CGAGGTGCCCTTGGAGACCCCGCATGTCCACAGCCGGGCAC CGAGGTGCCCTTGGAGACCCCGCGTGTCCACAGCCGGGCAC < 41bp 0.521478864909387 0.764770006676771 0.050026804 0.1933825 prediction 0.486582283534768 Functional Gain - GAA ENSG00000171298 CDS Human protein_coding chr17:78079594 chr17:78079597 nonsynonymous SNV 0.006 0 24 hm5C_associated_SNPs_110240 2 Benign Glycogen storage disease, type II RCV000275148.1
3875 chr8 11421965 11421965 1 + C G rs564964151 11421964 + 11421944 11421984 41 ACCCCCCGTGCTGGCCGCGTCCCCGCCTCTGCGCCCTGCGT ACCCCCCGTGCTGGCCGCGTCGCCGCCTCTGCGCCCTGCGT < 41bp 0.569840923354086 0.813073473766664 0.13974157 0.18072668 prediction 0.486465100825157 Functional Gain - BLK ENSG00000136573 UTR3 Human protein_coding chr8:11421964 chr8:11421965 . . 0 22 hm5C_associated_SNPs_110253 1 Likely benign Maturity-onset diabetes of the young RCV000263436.1
3875 chr1 12040442 12040442 1 + T A rs2180182 12040438 + 12040418 12040458 41 CGAGGGGCAATCTGAGGCGACTGGTGACGCGCTTATCCACT CGAGGGGCAATCTGAGGCGACTGGAGACGCGCTTATCCACT < 41bp 0.516708356342909 0.759642075400468 0.3882833 0.7602774 prediction 0.485867438115117 Functional Gain - MFN2 ENSG00000116688 UTR5 Human protein_coding chr1:12040438 chr1:12040442 . . 0 25 hm5C_associated_SNPs_110337 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000310318.1
3875 chr1 12040442 12040442 1 + T A rs2180182 12040438 + 12040418 12040458 41 CGAGGGGCAATCTGAGGCGACTGGTGACGCGCTTATCCACT CGAGGGGCAATCTGAGGCGACTGGAGACGCGCTTATCCACT < 41bp 0.516708356342909 0.759642075400468 0.3882833 0.7602774 prediction 0.485867438115117 Functional Gain - MFN2 ENSG00000116688 UTR5 Human protein_coding chr1:12040438 chr1:12040442 . . 0 25 hm5C_associated_SNPs_110337 2 Likely benign Hereditary motor and sensory neuropathy RCV000392486.1
3875 chr22 41572404 41572404 1 + C T BLCA 41572403 + 41572383 41572423 41 CACCTGGAGTTCTCTTCACTCCGAAGAGCCCAGTGGTCCAC CACCTGGAGTTCTCTTCACTCTGAAGAGCCCAGTGGTCCAC < 41bp 0.489745819737828 0.74267233041486 0.41544533 0.11505121 prediction 0.485344660829721 Functional Gain - EP300 ENSG00000100393 CDS Human protein_coding chr22:41572403 chr22:41572404 stopgain 0.998 0 22 hm5C_associated_SNPs_110420 1 Pathogenic Rubinstein-Taybi syndrome 2 RCV000162342.1
3875 chr2 47601106 47601106 1 + T C rs1126497 47601104 + 47601084 47601124 41 AAGCAGTGCAACGGCACCTCCATGTGCTGGTGTGTGAACAC AAGCAGTGCAACGGCACCTCCACGTGCTGGTGTGTGAACAC < 41bp 0.577641207368952 0.820067618692375 0.23409873 0.3419457 prediction 0.484852822646847 Functional Gain - EPCAM ENSG00000119888 CDS Human protein_coding chr2:47601104 chr2:47601106 nonsynonymous SNV 0.815 0 23 hm5C_associated_SNPs_110496 3 Benign Hereditary cancer-predisposing syndrome RCV000162369.1
3875 chr2 47601106 47601106 1 + T C rs1126497 47601104 + 47601084 47601124 41 AAGCAGTGCAACGGCACCTCCATGTGCTGGTGTGTGAACAC AAGCAGTGCAACGGCACCTCCACGTGCTGGTGTGTGAACAC < 41bp 0.577641207368952 0.820067618692375 0.23409873 0.3419457 prediction 0.484852822646847 Functional Gain - EPCAM ENSG00000119888 CDS Human protein_coding chr2:47601104 chr2:47601106 nonsynonymous SNV 0.815 0 23 hm5C_associated_SNPs_110496 3 Benign not specified RCV000244202.1
3875 chr2 47601106 47601106 1 + T C rs1126497 47601104 + 47601084 47601124 41 AAGCAGTGCAACGGCACCTCCATGTGCTGGTGTGTGAACAC AAGCAGTGCAACGGCACCTCCACGTGCTGGTGTGTGAACAC < 41bp 0.577641207368952 0.820067618692375 0.23409873 0.3419457 prediction 0.484852822646847 Functional Gain - EPCAM ENSG00000119888 CDS Human protein_coding chr2:47601104 chr2:47601106 nonsynonymous SNV 0.815 0 23 hm5C_associated_SNPs_110496 3 Likely benign Lynch syndrome RCV000298863.1
3875 chr18 31319710 31319710 1 + C T CESC 31319709 + 31319689 31319729 41 TATCTGAAGAGCCACTCTCCCCGCAGAAAGATGAGTCTTCC TATCTGAAGAGCCACTCTCCCTGCAGAAAGATGAGTCTTCC < 41bp 0.519137549355353 0.761549479878849 0.295004 0.27405357 prediction 0.484823861046992 Functional Gain - ASXL3 ENSG00000141431 CDS Human protein_coding chr18:31319709 chr18:31319710 nonsynonymous SNV 0.068 1 22 hm5C_associated_SNPs_110505 1 Uncertain significance not specified RCV000192905.1
3875 chr16 2129566 2129566 1 + C T SKCM 2129565 + 2129545 2129585 41 ATTCTCTTCTCAGCTCCAGCCCCGGGGTGCATGTGAGACAG ATTCTCTTCTCAGCTCCAGCCTCGGGGTGCATGTGAGACAG < 41bp 0.508688380714421 0.750892309372151 0.6957909 0.70039064 prediction 0.48440785731546 Functional Gain - TSC2 ENSG00000103197 CDS Human protein_coding chr16:2129565 chr16:2129566 nonsynonymous SNV 0.001 1 22 hm5C_associated_SNPs_110569 1 Uncertain significance Tuberous sclerosis 2 RCV000468858.1
3875 chr17 4801226 4801226 1 + A C rs113366718 4801228 - 4801208 4801248 41 ATACAGATGCAAGCAAGGGGCGTGGAGAGTGAGGGCTCCCT ATACAGATGCAAGCAAGGGGCGGGGAGAGTGAGGGCTCCCT < 41bp 0.499995705105061 0.741922237035178 0.36367404 0.8720675 prediction 0.483844474070357 Functional Gain - CHRNE;MINK1 ENSG00000108556;ENSG00000141503 UTR3 Human other chr17:4801228 chr17:4801226 . . 0 23 hm5C_associated_SNPs_110652 1 Uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive RCV000320424.1
3875 chr7 117180284 117180284 1 + C T SKCM 117180283 + 117180263 117180303 41 CTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCAT CTAATCAAAGGAATCATCCTCTGGAAAATATTCACCACCAT < 41bp 0.520799810344034 0.762295327737979 0.353071 0.44544226 prediction 0.482991034787889 Functional Gain - CFTR ENSG00000001626 CDS Human protein_coding chr7:117180283 chr7:117180284 nonsynonymous SNV 0.855 5 22 hm5C_associated_SNPs_110785 2 Pathogenic Cystic fibrosis RCV000007559.8
3875 chr7 117180284 117180284 1 + C T SKCM 117180283 + 117180263 117180303 41 CTAATCAAAGGAATCATCCTCCGGAAAATATTCACCACCAT CTAATCAAAGGAATCATCCTCTGGAAAATATTCACCACCAT < 41bp 0.520799810344034 0.762295327737979 0.353071 0.44544226 prediction 0.482991034787889 Functional Gain - CFTR ENSG00000001626 CDS Human protein_coding chr7:117180283 chr7:117180284 nonsynonymous SNV 0.855 5 22 hm5C_associated_SNPs_110785 2 Pathogenic not provided RCV000224060.1
3875 chr15 65370107 65370107 1 + C G rs368781046 65370106 + 65370086 65370126 41 GTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAG GTGGCGGCCGGCCGACACCACGGCCGTGGTGGAGTACGCAG < 41bp 0.618160149684832 0.859589014917021 0.52616376 0.4684145 prediction 0.482857730464379 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65370106 chr15:65370107 synonymous SNV . 0 22 hm5C_associated_SNPs_110810 2 other not specified RCV000117313.2
3875 chr15 65370107 65370107 1 + C G rs368781046 65370106 + 65370086 65370126 41 GTGGCGGCCGGCCGACACCACCGCCGTGGTGGAGTACGCAG GTGGCGGCCGGCCGACACCACGGCCGTGGTGGAGTACGCAG < 41bp 0.618160149684832 0.859589014917021 0.52616376 0.4684145 prediction 0.482857730464379 Functional Gain - KBTBD13 ENSG00000234438 CDS Human protein_coding chr15:65370106 chr15:65370107 synonymous SNV . 0 22 hm5C_associated_SNPs_110810 2 Likely benign Nemaline Myopathy, Dominant RCV000312631.1
3875 chr16 29824987 29824987 1 + C G rs149260055 29824986 + 29824966 29825006 41 CCCTGAGCCTCACTCACCACCCTCAAAAAAATCCCCCCCAG CCCTGAGCCTCACTCACCACCGTCAAAAAAATCCCCCCCAG < 41bp 0.423202151157526 0.741382940092974 0.033420563 0.07367146 prediction 0.482765880185948 Functional Gain - PRRT2 ENSG00000167371 CDS Human protein_coding chr16:29824986 chr16:29824987 synonymous SNV . 0 22 hm5C_associated_SNPs_110826 2 other not specified RCV000127621.4
3875 chr16 29824987 29824987 1 + C G rs149260055 29824986 + 29824966 29825006 41 CCCTGAGCCTCACTCACCACCCTCAAAAAAATCCCCCCCAG CCCTGAGCCTCACTCACCACCGTCAAAAAAATCCCCCCCAG < 41bp 0.423202151157526 0.741382940092974 0.033420563 0.07367146 prediction 0.482765880185948 Functional Gain - PRRT2 ENSG00000167371 CDS Human protein_coding chr16:29824986 chr16:29824987 synonymous SNV . 0 22 hm5C_associated_SNPs_110826 2 Benign Dystonia 10 RCV000471881.1
3875 chr5 169535734 169535734 1 + C A rs6873124 169535733 + 169535713 169535753 41 CCAGACATAAGCAGGAGCCTCCGAGGAATCCACCCTCTTTC CCAGACATAAGCAGGAGCCTCAGAGGAATCCACCCTCTTTC < 41bp 0.550172465705359 0.791435613981827 0.707935 0.89269114 prediction 0.482526296552936 Functional Gain - FOXI1 ENSG00000168269 UTR3 Human protein_coding chr5:169535733 chr5:169535734 . . 0 22 hm5C_associated_SNPs_110871 2 Likely benign Pendred's syndrome RCV000263741.1
3875 chr5 169535734 169535734 1 + C A rs6873124 169535733 + 169535713 169535753 41 CCAGACATAAGCAGGAGCCTCCGAGGAATCCACCCTCTTTC CCAGACATAAGCAGGAGCCTCAGAGGAATCCACCCTCTTTC < 41bp 0.550172465705359 0.791435613981827 0.707935 0.89269114 prediction 0.482526296552936 Functional Gain - FOXI1 ENSG00000168269 UTR3 Human protein_coding chr5:169535733 chr5:169535734 . . 0 22 hm5C_associated_SNPs_110871 2 Likely benign Nonsyndromic Hearing Loss, Mixed RCV000374423.1
3875 chr9 34517412 34517412 1 + C T COAD 34517411 + 34517391 34517431 41 ATCATCATTGTGGGCGATGACCGTGGGCACATCATCAGCCT ATCATCATTGTGGGCGATGACTGTGGGCACATCATCAGCCT < 41bp 0.513834956299638 0.754734477724778 0.46669045 0.17858216 prediction 0.481799042850281 Functional Gain - DNAI1 ENSG00000122735 CDS Human protein_coding chr9:34517411 chr9:34517412 nonsynonymous SNV 0.999 3 22 hm5C_associated_SNPs_110980 1 Uncertain significance Primary ciliary dyskinesia RCV000199193.1
3875 chr6 50811736 50811736 1 + A G rs113608318 50811733 + 50811713 50811753 41 GCCCAGCCCTGCGATCTTAACTCACCGGGCCCGGCTCCCCG GCCCAGCCCTGCGATCTTAACTCGCCGGGCCCGGCTCCCCG < 41bp 0.541987298950848 0.782393829383392 0.35405862 0.8649144 prediction 0.480813060865088 Functional Gain - TFAP2B ENSG00000008196 UTR3 Human protein_coding chr6:50811733 chr6:50811736 . . 0 24 hm5C_associated_SNPs_111150 1 Likely benign Char syndrome RCV000361336.1
3875 chr2 44066243 44066243 1 + C A rs72647316 44066242 + 44066222 44066262 41 GCTGCCGAAAGGGGCCACTCCCCAGGATACCTCGGTGAGTG GCTGCCGAAAGGGGCCACTCCACAGGATACCTCGGTGAGTG < 41bp 0.543062882070576 0.78343888994504 0.3434262 0.82761395 prediction 0.480752015748928 Functional Gain - ABCG8 ENSG00000143921 CDS Human protein_coding chr2:44066242 chr2:44066243 synonymous SNV . 0 22 hm5C_associated_SNPs_111166 1 Benign not specified RCV000173522.1
3875 chr16 8942941 8942941 1 + C G rs78698557 8942940 + 8942920 8942960 41 GGCCAGGGGAGCCCAGGCTGCCCTGCACTCCTGCCTCCCAG GGCCAGGGGAGCCCAGGCTGCGCTGCACTCCTGCCTCCCAG < 41bp 0.56177478437518 0.801843532994722 0.04507622 0.103551835 prediction 0.480137497239085 Functional Gain - PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942940 chr16:8942941 . . 0 22 hm5C_associated_SNPs_111264 1 Likely benign Congenital disorder of glycosylation RCV000309288.1
3875 chr17 26851602 26851602 1 + C T rs2071587 26851601 + 26851581 26851621 41 TCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCC TCACTGCCCCCACACAGCCCCTGCATTGCGTCACCAGGGCC < 41bp 0.530075748293257 0.76936795693498 0.002649933 0.018254757 prediction 0.478584417283446 Functional Gain - FOXN1 ENSG00000109101 CDS Human protein_coding chr17:26851601 chr17:26851602 nonsynonymous SNV 0.873 2 22 hm5C_associated_SNPs_111547 2 Benign T-cell immunodeficiency, congenital alopecia and nail dystrophy RCV000286412.1
3875 chr17 26851602 26851602 1 + C T rs2071587 26851601 + 26851581 26851621 41 TCACTGCCCCCACACAGCCCCCGCATTGCGTCACCAGGGCC TCACTGCCCCCACACAGCCCCTGCATTGCGTCACCAGGGCC < 41bp 0.530075748293257 0.76936795693498 0.002649933 0.018254757 prediction 0.478584417283446 Functional Gain - FOXN1 ENSG00000109101 CDS Human protein_coding chr17:26851601 chr17:26851602 nonsynonymous SNV 0.873 2 22 hm5C_associated_SNPs_111547 2 Benign not specified RCV000432702.1
3875 chr19 855966 855966 1 + C A rs17216649 855965 + 855945 855985 41 TCTGCCTCCACAGGGGGACTCCGGCAGCCCCTTGGTCTGCA TCTGCCTCCACAGGGGGACTCAGGCAGCCCCTTGGTCTGCA < 41bp 0.481167823622478 0.739212695951239 0.87225693 0.9159117 prediction 0.478425391902478 Functional Gain - ELANE ENSG00000197561 CDS Human protein_coding chr19:855965 chr19:855966 synonymous SNV . 0 22 hm5C_associated_SNPs_111586 1 Benign not specified RCV000247387.1
3875 chr19 45682876 45682876 1 + C G rs75792246 45682872 + 45682852 45682892 41 CCGGCGCCCGCCCCCGCGCGCTCGCTCCTGCAACTTCGGCT CCGGCGCCCGCCCCCGCGCGCTCGGTCCTGCAACTTCGGCT < 41bp 0.588419876315147 0.827522224890624 0.32898468 0.7980431 prediction 0.478204697150955 Functional Gain - BLOC1S3 ENSG00000189114 CDS Human protein_coding chr19:45682872 chr19:45682876 nonsynonymous SNV 0.638 4 25 hm5C_associated_SNPs_111625 1 other not specified RCV000156747.5
3875 chr17 58236769 58236769 1 + C A rs201580764 58236765 + 58236745 58236785 41 GCCCCATGCTGGCCTGCCTGCTGGCCGGCTTCCTGCGATGA GCCCCATGCTGGCCTGCCTGCTGGACGGCTTCCTGCGATGA < 41bp 0.682160395460924 0.920783233701796 0.2766828 0.5599928 prediction 0.477245676481744 Functional Gain - CA4 ENSG00000167434 CDS Human protein_coding chr17:58236765 chr17:58236769 nonsynonymous SNV 0.007 2 25 hm5C_associated_SNPs_111782 1 Uncertain significance not specified RCV000489007.1
3875 chr3 3170829 3170829 1 + C T rs368274081 3170828 + 3170808 3170848 41 CACAATGAAGTTGCAGTCTCCCGAATTCCAGTCACTTTTCA CACAATGAAGTTGCAGTCTCCTGAATTCCAGTCACTTTTCA < 41bp 0.530769108457117 0.768812368705486 0.09446427 0.06270677 prediction 0.476086520496737 Functional Gain - TRNT1 ENSG00000072756 CDS Human protein_coding chr3:3170828 chr3:3170829 synonymous SNV . 0 22 hm5C_associated_SNPs_111984 1 Likely benign not specified RCV000427097.1
3875 chr12 12022535 12022535 1 + C T COAD 12022534 + 12022514 12022554 41 ACATGATCCGCCGCCTCTCCCCGGCTGAGAGAGCTCAGGGA ACATGATCCGCCGCCTCTCCCTGGCTGAGAGAGCTCAGGGA < 41bp 0.502633160395924 0.740427914165733 0.84948754 0.3505892 prediction 0.475589507539619 Functional Gain - ETV6 ENSG00000139083 CDS Human protein_coding chr12:12022534 chr12:12022535 nonsynonymous SNV 0.644 1 22 hm5C_associated_SNPs_112081 3 Likely pathogenic Hematologic neoplasm RCV000149804.1
3875 chr12 12022535 12022535 1 + C T COAD 12022534 + 12022514 12022554 41 ACATGATCCGCCGCCTCTCCCCGGCTGAGAGAGCTCAGGGA ACATGATCCGCCGCCTCTCCCTGGCTGAGAGAGCTCAGGGA < 41bp 0.502633160395924 0.740427914165733 0.84948754 0.3505892 prediction 0.475589507539619 Functional Gain - ETV6 ENSG00000139083 CDS Human protein_coding chr12:12022534 chr12:12022535 nonsynonymous SNV 0.644 1 22 hm5C_associated_SNPs_112081 3 Likely pathogenic Thrombocytopenia RCV000149804.1
3875 chr12 12022535 12022535 1 + C T COAD 12022534 + 12022514 12022554 41 ACATGATCCGCCGCCTCTCCCCGGCTGAGAGAGCTCAGGGA ACATGATCCGCCGCCTCTCCCTGGCTGAGAGAGCTCAGGGA < 41bp 0.502633160395924 0.740427914165733 0.84948754 0.3505892 prediction 0.475589507539619 Functional Gain - ETV6 ENSG00000139083 CDS Human protein_coding chr12:12022534 chr12:12022535 nonsynonymous SNV 0.644 1 22 hm5C_associated_SNPs_112081 3 Pathogenic Thrombocytopenia 5 RCV000157611.6
3875 chr9 100616481 100616481 1 + A G rs139551528 100616478 + 100616458 100616498 41 CCCTTCTACCGCGACAACCCCAAAAAGTGGCAGAACAGCAT CCCTTCTACCGCGACAACCCCAAGAAGTGGCAGAACAGCAT < 41bp 0.507527329659928 0.745223685814017 0.3250475 0.39215738 prediction 0.475392712308177 Functional Gain - FOXE1 ENSG00000178919 CDS Human protein_coding chr9:100616478 chr9:100616481 synonymous SNV . 0 24 hm5C_associated_SNPs_112117 1 Likely benign not specified RCV000500330.1
3875 chr2 44066243 44066243 1 + C A rs72647316 44066239 + 44066219 44066259 41 AGGGCTGCCGAAAGGGGCCACTCCCCAGGATACCTCGGTGA AGGGCTGCCGAAAGGGGCCACTCCACAGGATACCTCGGTGA < 41bp 0.324740963049219 0.737673273072035 0.036462724 0.9475246 prediction 0.47534654614407 Functional Gain - ABCG8 ENSG00000143921 CDS Human protein_coding chr2:44066239 chr2:44066243 synonymous SNV . 0 25 hm5C_associated_SNPs_112126 1 Benign not specified RCV000173522.1
3875 chr5 67592129 67592129 1 + C T UCEC 67592128 + 67592108 67592148 41 CGAGATGGCACTTTTCTTGTCCGGGAGAGCAGTAAACAGGG CGAGATGGCACTTTTCTTGTCTGGGAGAGCAGTAAACAGGG < 41bp 0.505123202962481 0.742662048393495 0.71954715 0.44847167 prediction 0.475077690862027 Functional Gain - PIK3R1 ENSG00000145675 CDS Human protein_coding chr5:67592128 chr5:67592129 nonsynonymous SNV 0.999 5 22 hm5C_associated_SNPs_112175 2 Pathogenic SHORT syndrome RCV000054534.29
3875 chr5 67592129 67592129 1 + C T UCEC 67592128 + 67592108 67592148 41 CGAGATGGCACTTTTCTTGTCCGGGAGAGCAGTAAACAGGG CGAGATGGCACTTTTCTTGTCTGGGAGAGCAGTAAACAGGG < 41bp 0.505123202962481 0.742662048393495 0.71954715 0.44847167 prediction 0.475077690862027 Functional Gain - PIK3R1 ENSG00000145675 CDS Human protein_coding chr5:67592128 chr5:67592129 nonsynonymous SNV 0.999 5 22 hm5C_associated_SNPs_112175 2 Pathogenic not provided RCV000414540.1
3875 chr9 133901819 133901819 1 + C A rs2275137 133901818 + 133901798 133901838 41 GCCAGAAGACCTACGGCCGGCCCGAGGGCCAGTACCTGCGC GCCAGAAGACCTACGGCCGGCACGAGGGCCAGTACCTGCGC < 41bp 0.54734988605206 0.784789478397966 0.21684122 0.54848826 prediction 0.474879184691812 Functional Gain - LAMC3 ENSG00000050555 CDS Human protein_coding chr9:133901818 chr9:133901819 nonsynonymous SNV 0.987 0 22 hm5C_associated_SNPs_112213 1 Likely benign not specified RCV000117477.2
3875 chr3 87276522 87276522 1 + C A rs77328592 87276518 + 87276498 87276538 41 CGGTAGCTGCGGATACAAGCCTTCCGCGGGTCCTGCCTGGC CGGTAGCTGCGGATACAAGCCTTCAGCGGGTCCTGCCTGGC < 41bp 0.398845398833101 0.737344507378063 0.13131872 0.14210322 prediction 0.474689014756127 Functional Gain - CHMP2B ENSG00000083937 UTR5 Human protein_coding chr3:87276518 chr3:87276522 . . 0 25 hm5C_associated_SNPs_112249 1 Likely benign Frontotemporal dementia RCV000378169.1
3875 chr11 62439530 62439530 1 + T G rs143509965 62439528 + 62439508 62439548 41 GACCACGCAGGAGAACGTGGCCTGGAGGAAGAACTGGATGG GACCACGCAGGAGAACGTGGCCGGGAGGAAGAACTGGATGG < 41bp 0.392585817407028 0.737325951464166 0.1701839 0.44921455 prediction 0.474651902928332 Functional Gain - UQCC3 ENSG00000204922 CDS Human protein_coding chr11:62439528 chr11:62439530 nonsynonymous SNV 0.998 0 23 hm5C_associated_SNPs_112255 1 Likely benign not provided RCV000427950.1
3875 chr1 11907659 11907659 1 + A G rs142116829 11907661 - 11907641 11907681 41 GGTCAGACCAGAGCTAATCCCATGTACAATGCCGTGTCCAA GGTCAGACCAGAGCTAATCCCACGTACAATGCCGTGTCCAA < 41bp 0.519983128276954 0.757151493825745 0.3461423 0.3321792 prediction 0.474336731097583 Functional Gain - NPPA ENSG00000175206 CDS Human protein_coding chr1:11907661 chr1:11907659 nonsynonymous SNV 0.026 1 23 hm5C_associated_SNPs_112311 1 Likely benign Atrial fibrillation, familial, 6 RCV000473745.1
3875 chr17 17700053 17700053 1 + A G rs61746214 17700050 + 17700030 17700070 41 AGATGGGAAGGAGGAGAGGCCTGAGGGTTCCCCCACCCTCT AGATGGGAAGGAGGAGAGGCCTGGGGGTTCCCCCACCCTCT < 41bp 0.478462721490165 0.736633452466985 0.7250521 0.9026143 prediction 0.473266904933971 Functional Gain - RAI1 ENSG00000108557 CDS Human protein_coding chr17:17700050 chr17:17700053 nonsynonymous SNV 0.018 2 24 hm5C_associated_SNPs_112508 1 Benign not specified RCV000118115.3
3875 chr19 856130 856130 1 + C T rs17216663 856129 + 856109 856149 41 AGGACAACCCCTGTCCCCACCCCCGGGACCCGGACCCGGCC AGGACAACCCCTGTCCCCACCTCCGGGACCCGGACCCGGCC < 41bp 0.513675315617008 0.750124189400248 0.11725122 0.18288401 prediction 0.47289774756648 Functional Gain - ELANE ENSG00000197561 CDS Human protein_coding chr19:856129 chr19:856130 nonsynonymous SNV 0.019 2 22 hm5C_associated_SNPs_112562 2 Benign not specified RCV000243329.1
3875 chr19 856130 856130 1 + C T rs17216663 856129 + 856109 856149 41 AGGACAACCCCTGTCCCCACCCCCGGGACCCGGACCCGGCC AGGACAACCCCTGTCCCCACCTCCGGGACCCGGACCCGGCC < 41bp 0.513675315617008 0.750124189400248 0.11725122 0.18288401 prediction 0.47289774756648 Functional Gain - ELANE ENSG00000197561 CDS Human protein_coding chr19:856129 chr19:856130 nonsynonymous SNV 0.019 2 22 hm5C_associated_SNPs_112562 2 Likely benign not provided RCV000444348.1
3875 chr11 67258362 67258362 1 + C A rs35665586 67258358 + 67258338 67258378 41 CAAAGTGCTGGAGCTGGACCCAGCCCTGGCGCCTGTGGTGA CAAAGTGCTGGAGCTGGACCCAGCACTGGCGCCTGTGGTGA < 41bp 0.690630430874304 0.926762801449123 0.23391578 0.44679716 prediction 0.472264741149638 Functional Gain - AIP ENSG00000110711 CDS Human protein_coding chr11:67258358 chr11:67258362 synonymous SNV . 0 25 hm5C_associated_SNPs_112693 1 Likely benign Familial Isolated Pituitary Adenomas RCV000408403.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Adenocarcinoma of lung RCV000417655.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Oesophageal carcinoma RCV000417883.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Squamous cell carcinoma of lung RCV000418371.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000425994.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Adenocarcinoma of stomach RCV000427865.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Neoplasm of the breast RCV000430718.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000436003.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Neoplasm of brain RCV000436185.1
3875 chr17 7577130 7577130 1 + A T BRCA 7577134 - 7577114 7577154 41 GGTAATCTACTGGGACGGAACAGCTTTGAGGTGCGTGTTTG GGTAATCTACTGGGACGGAACAGCATTGAGGTGCGTGTTTG < 41bp 0.607100435334681 0.843211307617165 0.18253559 0.16391274 prediction 0.472221744564967 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577134 chr17:7577130 nonsynonymous SNV 1.000 5 25 hm5C_associated_SNPs_112701 9 Likely pathogenic Squamous cell carcinoma of the skin RCV000438999.1
3875 chr16 28913549 28913549 1 + C T COAD 28913548 + 28913528 28913568 41 GGCTGCCTGAGGCCCTGATCCCGGTGCAGCTGCTATGGGTG GGCTGCCTGAGGCCCTGATCCTGGTGCAGCTGCTATGGGTG < 41bp 0.527472681835456 0.762741357332517 0.8413301 0.8826592 prediction 0.470537350994122 Functional Gain - ATP2A1 ENSG00000196296 CDS Human protein_coding chr16:28913548 chr16:28913549 nonsynonymous SNV 0.997 5 22 hm5C_associated_SNPs_113030 1 Pathogenic Brody myopathy RCV000019384.26
3875 chr18 28913591 28913591 1 + C T GBM 28913590 + 28913570 28913610 41 CTTGCTGTAAGAGGCTCTGACCGAGATGGCGGGGCAGATGG CTTGCTGTAAGAGGCTCTGACTGAGATGGCGGGGCAGATGG < 41bp 0.505679838190884 0.740902093983234 0.476264 0.31660897 prediction 0.4704445115847 Functional Gain - DSG1 ENSG00000134760 CDS Human protein_coding chr18:28913590 chr18:28913591 stopgain 0.775 0 22 hm5C_associated_SNPs_113049 1 Pathogenic not provided RCV000295636.1
3875 chr19 7591755 7591755 1 + C T BLCA 7591754 + 7591734 7591774 41 CTCTGCCAGCGGTACTACCACCGAGGCCACGTGGACCCGGC CTCTGCCAGCGGTACTACCACTGAGGCCACGTGGACCCGGC < 41bp 0.537594828749002 0.772615947247118 0.38723063 0.20034385 prediction 0.470042236996231 Functional Gain - MCOLN1 ENSG00000090674 CDS Human protein_coding chr19:7591754 chr19:7591755 stopgain 0.430 0 22 hm5C_associated_SNPs_113123 1 other Ganglioside sialidase deficiency RCV000195067.1
3875 chr5 110463710 110463710 1 + C A rs183583946 110463706 + 110463686 110463726 41 CTGAGTATACTTTTCTTTCACAACCATTGCAAACCCAGGTA CTGAGTATACTTTTCTTTCACAACAATTGCAAACCCAGGTA < 41bp 0.350372858506818 0.734784558817921 0.09604177 0.18532443 prediction 0.469569117635842 Functional Gain - WDR36 ENSG00000134987 UTR3 Human protein_coding chr5:110463706 chr5:110463710 . . 0 25 hm5C_associated_SNPs_113201 1 Likely benign Primary open angle glaucoma RCV000344463.1
3875 chr13 100637663 100637663 1 + C T rs182192729 100637662 + 100637642 100637682 41 CACGCCCCCGGGGCTGGTGTCCCCCAGCGCCGAGCCCCAGA CACGCCCCCGGGGCTGGTGTCTCCCAGCGCCGAGCCCCAGA < 41bp 0.492288121093749 0.734692408571898 0.101257 0.21068686 prediction 0.469384817143797 Functional Gain - ZIC2 ENSG00000043355 CDS Human protein_coding chr13:100637662 chr13:100637663 synonymous SNV . 0 22 hm5C_associated_SNPs_113236 1 Benign not specified RCV000177267.2
3875 chr17 61574662 61574662 1 + C A rs4364 61574661 + 61574641 61574681 41 CGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTC CGGCTCTTCAGCATCCGCCACAGCAGCCTCCACCGGCACTC < 41bp 0.54825197381439 0.782912392820103 0.69039243 0.66680306 prediction 0.469320838011426 Functional Gain - ACE ENSG00000159640 CDS Human protein_coding chr17:61574661 chr17:61574662 nonsynonymous SNV 0.044 0 22 hm5C_associated_SNPs_113247 2 Benign not specified RCV000248386.1
3875 chr17 61574662 61574662 1 + C A rs4364 61574661 + 61574641 61574681 41 CGGCTCTTCAGCATCCGCCACCGCAGCCTCCACCGGCACTC CGGCTCTTCAGCATCCGCCACAGCAGCCTCCACCGGCACTC < 41bp 0.54825197381439 0.782912392820103 0.69039243 0.66680306 prediction 0.469320838011426 Functional Gain - ACE ENSG00000159640 CDS Human protein_coding chr17:61574661 chr17:61574662 nonsynonymous SNV 0.044 0 22 hm5C_associated_SNPs_113247 2 Likely benign Renal dysplasia RCV000260832.1
3875 chr20 30414453 30414453 1 + C T LUSC 30414452 + 30414432 30414472 41 GTCATGAACCAGCTGAACCACCGCAATCTGATCCAGCTGTA GTCATGAACCAGCTGAACCACTGCAATCTGATCCAGCTGTA < 41bp 0.579827005230215 0.814400809347766 0.1600014 0.3103053 prediction 0.469147608235102 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30414452 chr20:30414453 nonsynonymous SNV 0.990 2 22 hm5C_associated_SNPs_113277 1 Uncertain significance not specified RCV000490204.1
3875 chr2 202050677 202050677 1 + A G rs3900115 202050674 + 202050654 202050694 41 CTGGAGAAGTCCAGCTCAGCCTCAGATGTTTTTGAACATCT CTGGAGAAGTCCAGCTCAGCCTCGGATGTTTTTGAACATCT < 41bp 0.50632101993138 0.740596907985053 0.034826785 0.036415458 prediction 0.468551776107345 Functional Gain - CASP10 ENSG00000003400 CDS Human protein_coding chr2:202050674 chr2:202050677 synonymous SNV . 0 24 hm5C_associated_SNPs_113376 2 Benign Autoimmune lymphoproliferative syndrome RCV000384413.1
3875 chr2 202050677 202050677 1 + A G rs3900115 202050674 + 202050654 202050694 41 CTGGAGAAGTCCAGCTCAGCCTCAGATGTTTTTGAACATCT CTGGAGAAGTCCAGCTCAGCCTCGGATGTTTTTGAACATCT < 41bp 0.50632101993138 0.740596907985053 0.034826785 0.036415458 prediction 0.468551776107345 Functional Gain - CASP10 ENSG00000003400 CDS Human protein_coding chr2:202050674 chr2:202050677 synonymous SNV . 0 24 hm5C_associated_SNPs_113376 2 Benign not specified RCV000454697.1
3875 chr16 4387924 4387924 1 + T G rs189481658 4387921 + 4387901 4387941 41 GGTGGGGTGGCATCTGCCCTCCCTGCTAGCACCAGGCTCCC GGTGGGGTGGCATCTGCCCTCCCGGCTAGCACCAGGCTCCC < 41bp 0.353491603970131 0.734255138992299 0.07350454 0.22057822 prediction 0.468510277984598 Functional Gain - GLIS2 ENSG00000126603 UTR3 Human protein_coding chr16:4387921 chr16:4387924 . . 0 24 hm5C_associated_SNPs_113383 1 Uncertain significance Nephronophthisis RCV000395139.1
3875 chr4 647889 647889 1 + T C rs142597807 647892 - 647872 647912 41 GGCTGGGACTCTCCCATCAGCACAGACCACACGTCAAAAAA GGCTGGGACTCTCCCATCAGCACGGACCACACGTCAAAAAA < 41bp 0.520310638097371 0.754451628148246 0.3820145 0.39255837 prediction 0.46828198010175 Functional Gain - PDE6B ENSG00000133256 CDS Human protein_coding chr4:647892 chr4:647889 synonymous SNV . 0 24 hm5C_associated_SNPs_113428 3 Benign not specified RCV000127390.1
3875 chr4 647889 647889 1 + T C rs142597807 647892 - 647872 647912 41 GGCTGGGACTCTCCCATCAGCACAGACCACACGTCAAAAAA GGCTGGGACTCTCCCATCAGCACGGACCACACGTCAAAAAA < 41bp 0.520310638097371 0.754451628148246 0.3820145 0.39255837 prediction 0.46828198010175 Functional Gain - PDE6B ENSG00000133256 CDS Human protein_coding chr4:647892 chr4:647889 synonymous SNV . 0 24 hm5C_associated_SNPs_113428 3 Likely benign Congenital Stationary Night Blindness, Dominant RCV000297639.1
3875 chr4 647889 647889 1 + T C rs142597807 647892 - 647872 647912 41 GGCTGGGACTCTCCCATCAGCACAGACCACACGTCAAAAAA GGCTGGGACTCTCCCATCAGCACGGACCACACGTCAAAAAA < 41bp 0.520310638097371 0.754451628148246 0.3820145 0.39255837 prediction 0.46828198010175 Functional Gain - PDE6B ENSG00000133256 CDS Human protein_coding chr4:647892 chr4:647889 synonymous SNV . 0 24 hm5C_associated_SNPs_113428 3 Likely benign Retinitis Pigmentosa, Recessive RCV000370966.1
3875 chr16 8839954 8839954 1 + A G rs1731017 8839951 + 8839931 8839971 41 GGAAGTCCCAGGGCCTAGATCTCAGGTGAGTTGAGCACACC GGAAGTCCCAGGGCCTAGATCTCGGGTGAGTTGAGCACACC < 41bp 0.529037720866357 0.76305821390071 0.36920252 0.87954205 prediction 0.468040986068706 Functional Gain - ABAT ENSG00000183044 CDS Human protein_coding chr16:8839951 chr16:8839954 nonsynonymous SNV 0.759 0 24 hm5C_associated_SNPs_113477 1 Benign Gamma-aminobutyric acid transaminase deficiency RCV000342704.1
3875 chr10 104390303 104390303 1 + A G rs2298278 104390300 + 104390280 104390320 41 GCAGGAGGGAGGCGGACAGCCAGATGCAGAGCGAGTGGATG GCAGGAGGGAGGCGGACAGCCAGGTGCAGAGCGAGTGGATG < 41bp 0.523820719415894 0.757816142169225 0.9123632 0.91162896 prediction 0.467990845506661 Functional Gain - SUFU ENSG00000107882 UTR3 Human protein_coding chr10:104390300 chr10:104390303 . . 0 24 hm5C_associated_SNPs_113487 1 Likely benign Medulloblastoma RCV000303005.1
3875 chr16 88874591 88874591 1 + C T rs144721725 88874590 + 88874570 88874610 41 TGGCTCAGCCTCCACCGCATCCGCACCGACACCTACGTCAA TGGCTCAGCCTCCACCGCATCTGCACCGACACCTACGTCAA < 41bp 0.549572296643726 0.783277027918759 0.05671391 0.13599807 prediction 0.467409462550065 Functional Gain - CDT1 ENSG00000167513 CDS Human protein_coding chr16:88874590 chr16:88874591 nonsynonymous SNV 0.010 4 22 hm5C_associated_SNPs_113597 1 Uncertain significance not specified RCV000502918.1
3875 chr7 107302103 107302103 1 + G T rs111033423 107302107 - 107302087 107302127 41 GGGAGCTGCGGCGGCTCCGACCTGCCGCCTGGCGCTGCCAT GGGAGCTGCGGCGGCTCCGACCTGACGCCTGGCGCTGCCAT < 41bp 0.352432586578294 0.73355785615201 0.093118906 0.111240625 prediction 0.467115712304021 Functional Gain - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107302107 chr7:107302103 nonsynonymous SNV 0.782 1 25 hm5C_associated_SNPs_113649 2 Likely benign not specified RCV000036459.2
3875 chr7 107302103 107302103 1 + G T rs111033423 107302107 - 107302087 107302127 41 GGGAGCTGCGGCGGCTCCGACCTGCCGCCTGGCGCTGCCAT GGGAGCTGCGGCGGCTCCGACCTGACGCCTGGCGCTGCCAT < 41bp 0.352432586578294 0.73355785615201 0.093118906 0.111240625 prediction 0.467115712304021 Functional Gain - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107302107 chr7:107302103 nonsynonymous SNV 0.782 1 25 hm5C_associated_SNPs_113649 2 Likely benign Pendred's syndrome RCV000169379.1
3875 chr19 45683589 45683589 1 + C G rs142584236 45683585 + 45683565 45683605 41 ATTACTGCTCACTGCAACCTCGACCTCCTGGGCTCAAGTGA ATTACTGCTCACTGCAACCTCGACGTCCTGGGCTCAAGTGA < 41bp 0.442315827960896 0.733552255482111 0.21812335 0.6167686 prediction 0.467104510964222 Functional Gain - BLOC1S3 ENSG00000189114 UTR3 Human protein_coding chr19:45683585 chr19:45683589 . . 0 25 hm5C_associated_SNPs_113650 1 Likely benign Hermansky-Pudlak syndrome RCV000404860.1
3875 chr3 122003769 122003769 1 + A G rs1042636 122003766 + 122003746 122003786 41 CTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAG CTCAGAAGAACGCCATGGCCCACGGGAATTCTACGCACCAG < 41bp 0.537672785781978 0.771212926517378 0.05195737 0.15364158 prediction 0.4670802814708 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003766 chr3:122003769 nonsynonymous SNV 0.340 3 24 hm5C_associated_SNPs_113661 5 Benign not specified RCV000179296.2
3875 chr3 122003769 122003769 1 + A G rs1042636 122003766 + 122003746 122003786 41 CTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAG CTCAGAAGAACGCCATGGCCCACGGGAATTCTACGCACCAG < 41bp 0.537672785781978 0.771212926517378 0.05195737 0.15364158 prediction 0.4670802814708 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003766 chr3:122003769 nonsynonymous SNV 0.340 3 24 hm5C_associated_SNPs_113661 5 Benign Hypocalcemia RCV000276967.1
3875 chr3 122003769 122003769 1 + A G rs1042636 122003766 + 122003746 122003786 41 CTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAG CTCAGAAGAACGCCATGGCCCACGGGAATTCTACGCACCAG < 41bp 0.537672785781978 0.771212926517378 0.05195737 0.15364158 prediction 0.4670802814708 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003766 chr3:122003769 nonsynonymous SNV 0.340 3 24 hm5C_associated_SNPs_113661 5 Benign Neonatal severe hyperparathyroidism RCV000312165.1
3875 chr3 122003769 122003769 1 + A G rs1042636 122003766 + 122003746 122003786 41 CTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAG CTCAGAAGAACGCCATGGCCCACGGGAATTCTACGCACCAG < 41bp 0.537672785781978 0.771212926517378 0.05195737 0.15364158 prediction 0.4670802814708 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003766 chr3:122003769 nonsynonymous SNV 0.340 3 24 hm5C_associated_SNPs_113661 5 Benign Familial hypocalciuric hypercalcemia RCV000369225.1
3875 chr3 122003769 122003769 1 + A G rs1042636 122003766 + 122003746 122003786 41 CTCAGAAGAACGCCATGGCCCACAGGAATTCTACGCACCAG CTCAGAAGAACGCCATGGCCCACGGGAATTCTACGCACCAG < 41bp 0.537672785781978 0.771212926517378 0.05195737 0.15364158 prediction 0.4670802814708 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003766 chr3:122003769 nonsynonymous SNV 0.340 3 24 hm5C_associated_SNPs_113661 5 Benign Hypoparathyroidism familial isolated RCV000394192.1
3875 chr9 101589211 101589211 1 + C T rs59362219 101589210 + 101589190 101589230 41 GCCACGAAGGGTGGCTGGAGCCGCTGCTGCAGAGGTACGTG GCCACGAAGGGTGGCTGGAGCTGCTGCTGCAGAGGTACGTG < 41bp 0.48921364200798 0.733435530411581 0.8473746 0.6218546 prediction 0.466871060823163 Functional Gain - GALNT12 ENSG00000119514 CDS Human protein_coding chr9:101589210 chr9:101589211 nonsynonymous SNV 0.998 4 22 hm5C_associated_SNPs_113711 1 Uncertain significance not specified RCV000463956.1
3875 chr2 97465384 97465384 1 + C T rs41286594 97465383 + 97465363 97465403 41 GGCCCTGACCTCGGTCCCCTCCGGTGAGTTGTTGGGCATGG GGCCCTGACCTCGGTCCCCTCTGGTGAGTTGTTGGGCATGG < 41bp 0.500722950181199 0.734068764974621 0.4431156 0.41948006 prediction 0.466691629586844 Functional Gain - CNNM4 ENSG00000158158 CDS Human protein_coding chr2:97465383 chr2:97465384 synonymous SNV . 0 22 hm5C_associated_SNPs_113746 2 Benign not specified RCV000250040.1
3875 chr2 97465384 97465384 1 + C T rs41286594 97465383 + 97465363 97465403 41 GGCCCTGACCTCGGTCCCCTCCGGTGAGTTGTTGGGCATGG GGCCCTGACCTCGGTCCCCTCTGGTGAGTTGTTGGGCATGG < 41bp 0.500722950181199 0.734068764974621 0.4431156 0.41948006 prediction 0.466691629586844 Functional Gain - CNNM4 ENSG00000158158 CDS Human protein_coding chr2:97465383 chr2:97465384 synonymous SNV . 0 22 hm5C_associated_SNPs_113746 2 Uncertain significance Cone-rod dystrophy amelogenesis imperfecta RCV000376496.1
3875 chr2 241808314 241808314 1 + C A rs34116584 241808313 + 241808293 241808333 41 ACAAGCTGCTGGTGACCCCCCCCAAGGCCCTGCTCAAGCCC ACAAGCTGCTGGTGACCCCCCACAAGGCCCTGCTCAAGCCC < 41bp 0.558177662112297 0.79110619795933 0.14356941 0.24319395 prediction 0.465857071694068 Functional Gain - AGXT ENSG00000172482 CDS Human protein_coding chr2:241808313 chr2:241808314 nonsynonymous SNV 0.011 5 22 hm5C_associated_SNPs_113940 1 Uncertain significance Primary hyperoxaluria, type I RCV000186220.1
3875 chr9 71862951 71862951 1 + C T UCEC 71862950 + 71862930 71862970 41 GGAAGGGATGGATGATGACCCCGAAGACCGCATGTCCTACT GGAAGGGATGGATGATGACCCTGAAGACCGCATGTCCTACT < 41bp 0.492676726964895 0.732924238422835 0.04267937 0.039031357 prediction 0.465848476845671 Functional Gain - TJP2 ENSG00000119139 CDS Human protein_coding chr9:71862950 chr9:71862951 synonymous SNV . 0 22 hm5C_associated_SNPs_113941 2 Benign not specified RCV000155436.1
3875 chr9 71862951 71862951 1 + C T UCEC 71862950 + 71862930 71862970 41 GGAAGGGATGGATGATGACCCCGAAGACCGCATGTCCTACT GGAAGGGATGGATGATGACCCTGAAGACCGCATGTCCTACT < 41bp 0.492676726964895 0.732924238422835 0.04267937 0.039031357 prediction 0.465848476845671 Functional Gain - TJP2 ENSG00000119139 CDS Human protein_coding chr9:71862950 chr9:71862951 synonymous SNV . 0 22 hm5C_associated_SNPs_113941 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000345772.1
3875 chr7 73474367 73474367 1 + T A rs61734584 73474363 + 73474343 73474383 41 CGTGGCTCCCGGCATTGGCCCTGGTGGAGTTGCAGGTGAGT CGTGGCTCCCGGCATTGGCCCTGGAGGAGTTGCAGGTGAGT < 41bp 0.457031598123993 0.732873214420632 0.4054451 0.3669749 prediction 0.465746428841264 Functional Gain - ELN ENSG00000049540 CDS Human protein_coding chr7:73474363 chr7:73474367 synonymous SNV . 0 25 hm5C_associated_SNPs_113969 4 Likely benign not specified RCV000197401.4
3875 chr7 73474367 73474367 1 + T A rs61734584 73474363 + 73474343 73474383 41 CGTGGCTCCCGGCATTGGCCCTGGTGGAGTTGCAGGTGAGT CGTGGCTCCCGGCATTGGCCCTGGAGGAGTTGCAGGTGAGT < 41bp 0.457031598123993 0.732873214420632 0.4054451 0.3669749 prediction 0.465746428841264 Functional Gain - ELN ENSG00000049540 CDS Human protein_coding chr7:73474363 chr7:73474367 synonymous SNV . 0 25 hm5C_associated_SNPs_113969 4 Likely benign Cutis laxa, autosomal dominant RCV000260725.1
3875 chr7 73474367 73474367 1 + T A rs61734584 73474363 + 73474343 73474383 41 CGTGGCTCCCGGCATTGGCCCTGGTGGAGTTGCAGGTGAGT CGTGGCTCCCGGCATTGGCCCTGGAGGAGTTGCAGGTGAGT < 41bp 0.457031598123993 0.732873214420632 0.4054451 0.3669749 prediction 0.465746428841264 Functional Gain - ELN ENSG00000049540 CDS Human protein_coding chr7:73474363 chr7:73474367 synonymous SNV . 0 25 hm5C_associated_SNPs_113969 4 Likely benign Supravalvular aortic stenosis RCV000313661.1
3875 chr7 73474367 73474367 1 + T A rs61734584 73474363 + 73474343 73474383 41 CGTGGCTCCCGGCATTGGCCCTGGTGGAGTTGCAGGTGAGT CGTGGCTCCCGGCATTGGCCCTGGAGGAGTTGCAGGTGAGT < 41bp 0.457031598123993 0.732873214420632 0.4054451 0.3669749 prediction 0.465746428841264 Functional Gain - ELN ENSG00000049540 CDS Human protein_coding chr7:73474363 chr7:73474367 synonymous SNV . 0 25 hm5C_associated_SNPs_113969 4 Benign Supravalvar aortic stenosis RCV000470810.1
3875 chr17 1639458 1639458 1 + A G rs11549259 1639455 + 1639435 1639475 41 ATGGTGCTCCTGGACACCCGCACAGGCCTGGTTCTGCGAGG ATGGTGCTCCTGGACACCCGCACGGGCCTGGTTCTGCGAGG < 41bp 0.53232284226081 0.765056930850444 0.2273095 0.6867219 prediction 0.465468177179267 Functional Gain - WDR81 ENSG00000167716 CDS Human protein_coding chr17:1639455 chr17:1639458 synonymous SNV . 0 24 hm5C_associated_SNPs_114027 1 Likely benign not specified RCV000118860.2
3875 chr17 15902994 15902994 1 + C A rs73276077 15902990 + 15902970 15903010 41 CTACCTGTGGAGGATCCTGACCCCCCGCCGGGGCAGGGCGA CTACCTGTGGAGGATCCTGACCCCACGCCGGGGCAGGGCGA < 41bp 0.35007399916191 0.732432754178935 0.08349055 0.2758747 prediction 0.46486550835787 Functional Gain - TTC19;ZSWIM7 ENSG00000011295 CDS Human protein_coding chr17:15902990 chr17:15902994 synonymous SNV . 0 25 hm5C_associated_SNPs_114166 1 Likely benign not specified RCV000437229.1
3875 chr14 81609760 81609760 1 + T C THCA 81609758 + 81609738 81609778 41 CTGAACGTCCCCCGCTTTCTCATGTGCAACCTGGCCTTTGC CTGAACGTCCCCCGCTTTCTCACGTGCAACCTGGCCTTTGC < 41bp 0.591684987788242 0.823262843585725 0.89725167 0.87836355 prediction 0.463155711594965 Functional Gain - TSHR ENSG00000165409 CDS Human protein_coding chr14:81609758 chr14:81609760 nonsynonymous SNV 1.000 4 23 hm5C_associated_SNPs_114548 1 Pathogenic Hyperthyroidism, nonautoimmune RCV000006806.2
3875 chr17 70120416 70120416 1 + A G STAD 70120413 + 70120393 70120433 41 CTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCC CTTCACCTACATGAACCCCGCTCGGCGCCCCATGTACACCC < 41bp 0.526002928838967 0.757256481430513 0.018602073 0.039043993 prediction 0.462507105183094 Functional Gain - SOX9 ENSG00000125398 CDS Human protein_coding chr17:70120413 chr17:70120416 nonsynonymous SNV 0.997 3 24 hm5C_associated_SNPs_114682 1 Likely pathogenic not provided RCV000485037.1
3875 chrX 48386663 48386663 1 + C T COAD 48386662 + 48386642 48386682 41 CTCTACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGG CTCTACTTCCTGACAGAGCACTGCGACGGATTCCAGCACGG < 41bp 0.497664728206053 0.731202515667238 0.2892651 0.17913675 prediction 0.462405031334477 Functional Gain - EBP ENSG00000147155 CDS Human protein_coding chrX:48386662 chrX:48386663 nonsynonymous SNV 0.004 4 22 hm5C_associated_SNPs_114709 3 Likely pathogenic Chondrodysplasia punctata 2 X-linked dominant RCV000145943.1
3875 chrX 48386663 48386663 1 + C T COAD 48386662 + 48386642 48386682 41 CTCTACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGG CTCTACTTCCTGACAGAGCACTGCGACGGATTCCAGCACGG < 41bp 0.497664728206053 0.731202515667238 0.2892651 0.17913675 prediction 0.462405031334477 Functional Gain - EBP ENSG00000147155 CDS Human protein_coding chrX:48386662 chrX:48386663 nonsynonymous SNV 0.004 4 22 hm5C_associated_SNPs_114709 3 Likely pathogenic not provided RCV000171436.1
3875 chrX 48386663 48386663 1 + C T COAD 48386662 + 48386642 48386682 41 CTCTACTTCCTGACAGAGCACCGCGACGGATTCCAGCACGG CTCTACTTCCTGACAGAGCACTGCGACGGATTCCAGCACGG < 41bp 0.497664728206053 0.731202515667238 0.2892651 0.17913675 prediction 0.462405031334477 Functional Gain - EBP ENSG00000147155 CDS Human protein_coding chrX:48386662 chrX:48386663 nonsynonymous SNV 0.004 4 22 hm5C_associated_SNPs_114709 3 Likely benign not specified RCV000439113.1
3875 chr16 2138096 2138096 1 + C T rs45517391 2138095 + 2138075 2138115 41 GTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGC GTGGCCAAGATCGTGTCTGACTGCAACCTGCCCTTCGTGGC < 41bp 0.567471290689668 0.798516040236815 0.4268992 0.32429484 prediction 0.462089499094294 Functional Gain - TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138095 chr16:2138096 nonsynonymous SNV 0.879 3 22 hm5C_associated_SNPs_114777 3 Likely benign Tuberous sclerosis syndrome RCV000043179.3
3875 chr16 2138096 2138096 1 + C T rs45517391 2138095 + 2138075 2138115 41 GTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGC GTGGCCAAGATCGTGTCTGACTGCAACCTGCCCTTCGTGGC < 41bp 0.567471290689668 0.798516040236815 0.4268992 0.32429484 prediction 0.462089499094294 Functional Gain - TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138095 chr16:2138096 nonsynonymous SNV 0.879 3 22 hm5C_associated_SNPs_114777 3 Benign not specified RCV000189943.3
3875 chr16 2138096 2138096 1 + C T rs45517391 2138095 + 2138075 2138115 41 GTGGCCAAGATCGTGTCTGACCGCAACCTGCCCTTCGTGGC GTGGCCAAGATCGTGTCTGACTGCAACCTGCCCTTCGTGGC < 41bp 0.567471290689668 0.798516040236815 0.4268992 0.32429484 prediction 0.462089499094294 Functional Gain - TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138095 chr16:2138096 nonsynonymous SNV 0.879 3 22 hm5C_associated_SNPs_114777 3 Likely benign Tuberous sclerosis 2 RCV000229384.2
3875 chr19 11561629 11561629 1 + T C rs8616 11561627 + 11561607 11561647 41 CATTCCCAGGCCCCAACAGCCTTCAAAGATGGGTAAAGGAG CATTCCCAGGCCCCAACAGCCTCCAAAGATGGGTAAAGGAG < 41bp 0.521858469663445 0.752850833877967 0.52029526 0.9709779 prediction 0.461984728429046 Functional Gain - PRKCSH ENSG00000130175 UTR3 Human protein_coding chr19:11561627 chr19:11561629 . . 0 23 hm5C_associated_SNPs_114802 1 Benign Polycystic liver disease RCV000380055.1
3875 chr5 52360928 52360928 1 + C T COAD 52360927 + 52360907 52360947 41 AATGGTCATCAGGGCACTATCCGCACAAAGTATTCCCAGGT AATGGTCATCAGGGCACTATCTGCACAAAGTATTCCCAGGT < 41bp 0.554735603936577 0.785638795498769 0.35407388 0.22049308 prediction 0.461806383124385 Functional Gain - ITGA2 ENSG00000164171 CDS Human protein_coding chr5:52360927 chr5:52360928 nonsynonymous SNV 0.841 3 22 hm5C_associated_SNPs_114832 1 Uncertain significance Platelet-type bleeding disorder 9 RCV000337750.1
3875 chr1 43803899 43803899 1 + C T rs61754776 43803898 + 43803878 43803918 41 ACCAGCTGCTGTATGCCTACCCGCGGTAGGTGCTGGACTGT ACCAGCTGCTGTATGCCTACCTGCGGTAGGTGCTGGACTGT < 41bp 0.523274762589969 0.754052751703012 0.37425476 0.30673042 prediction 0.461555978226086 Functional Gain - MPL ENSG00000117400 CDS Human protein_coding chr1:43803898 chr1:43803899 nonsynonymous SNV 0.956 0 22 hm5C_associated_SNPs_114879 1 Likely benign not specified RCV000121534.2
3875 chr3 64085071 64085071 1 + T C rs148689951 64085074 - 64085054 64085094 41 ATGACCAATTTATGCGCCAGCGGAGCTTCCAGGAGAGCATG ATGACCAATTTATGCGCCAGCGGGGCTTCCAGGAGAGCATG < 41bp 0.520353554799694 0.751095808118676 0.89078104 0.910048 prediction 0.461484506637964 Functional Gain - PRICKLE2 ENSG00000163637 CDS Human protein_coding chr3:64085074 chr3:64085071 nonsynonymous SNV 0.994 2 24 hm5C_associated_SNPs_114899 1 Uncertain significance not specified RCV000180391.1
3875 chr9 137533652 137533652 1 + C G rs555826102 137533651 + 137533631 137533671 41 CTCCGCGCCGAAGGCGAGGTCCGCACTCTCCGTCCCCGCGG CTCCGCGCCGAAGGCGAGGTCGGCACTCTCCGTCCCCGCGG < 41bp 0.61795470829809 0.848437809474572 0.20607564 0.83472455 prediction 0.460966202352965 Functional Gain - COL5A1 ENSG00000130635 UTR5 Human protein_coding chr9:137533651 chr9:137533652 . . 0 22 hm5C_associated_SNPs_115007 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000292470.1
3875 chr11 45834304 45834304 1 + C A rs575219836 45834300 + 45834280 45834320 41 TGCAGGGGGAGTGGGGGACACACACAAATTTCGGGGCCATA TGCAGGGGGAGTGGGGGACACACAAAAATTTCGGGGCCATA < 41bp 0.386875409554535 0.730463421636212 0.1700021 0.32339793 prediction 0.460926843272424 Functional Gain - SLC35C1 ENSG00000181830 UTR3 Human protein_coding chr11:45834300 chr11:45834304 . . 0 25 hm5C_associated_SNPs_115023 1 Uncertain significance Congenital disorder of glycosylation RCV000260600.1
3875 chr17 68165710 68165710 1 + C A rs370696463 68165709 + 68165689 68165729 41 CTGGCCAGCGCGCAGCCTTCCCGGCGCCGGCGGGCTGGGTC CTGGCCAGCGCGCAGCCTTCCAGGCGCCGGCGGGCTGGGTC < 41bp 0.547067317121001 0.777062618105185 0.8518294 0.91215163 prediction 0.459990601968368 Functional Gain - KCNJ2 ENSG00000123700 UTR5 Human protein_coding chr17:68165709 chr17:68165710 . . 0 22 hm5C_associated_SNPs_115209 3 Uncertain significance Familial atrial fibrillation RCV000282434.1
3875 chr17 68165710 68165710 1 + C A rs370696463 68165709 + 68165689 68165729 41 CTGGCCAGCGCGCAGCCTTCCCGGCGCCGGCGGGCTGGGTC CTGGCCAGCGCGCAGCCTTCCAGGCGCCGGCGGGCTGGGTC < 41bp 0.547067317121001 0.777062618105185 0.8518294 0.91215163 prediction 0.459990601968368 Functional Gain - KCNJ2 ENSG00000123700 UTR5 Human protein_coding chr17:68165709 chr17:68165710 . . 0 22 hm5C_associated_SNPs_115209 3 Uncertain significance Andersen Tawil syndrome RCV000336432.1
3875 chr17 68165710 68165710 1 + C A rs370696463 68165709 + 68165689 68165729 41 CTGGCCAGCGCGCAGCCTTCCCGGCGCCGGCGGGCTGGGTC CTGGCCAGCGCGCAGCCTTCCAGGCGCCGGCGGGCTGGGTC < 41bp 0.547067317121001 0.777062618105185 0.8518294 0.91215163 prediction 0.459990601968368 Functional Gain - KCNJ2 ENSG00000123700 UTR5 Human protein_coding chr17:68165709 chr17:68165710 . . 0 22 hm5C_associated_SNPs_115209 3 Uncertain significance short QT syndrome RCV000392632.1
3875 chr19 47259274 47259274 1 + C T rs201454433 47259273 + 47259253 47259293 41 TGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACG TGGCGCAGCCCCCGCCGCGCCTCGCTGCGACGCCCTGGACG < 41bp 0.511845048728238 0.741575167639569 0.069071114 0.28952748 prediction 0.459460237822663 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259273 chr19:47259274 synonymous SNV . 0 22 hm5C_associated_SNPs_115321 2 other not specified RCV000254084.3
3875 chr19 47259274 47259274 1 + C T rs201454433 47259273 + 47259253 47259293 41 TGGCGCAGCCCCCGCCGCGCCCCGCTGCGACGCCCTGGACG TGGCGCAGCCCCCGCCGCGCCTCGCTGCGACGCCCTGGACG < 41bp 0.511845048728238 0.741575167639569 0.069071114 0.28952748 prediction 0.459460237822663 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259273 chr19:47259274 synonymous SNV . 0 22 hm5C_associated_SNPs_115321 2 Benign Walker-Warburg congenital muscular dystrophy RCV000472615.1
3875 chr2 71780265 71780265 1 + T C rs141867897 71780263 + 71780243 71780283 41 AACTACGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGC AACTACGGGAACAAGTTCGACACGACCTGCCTGCCGCTGGC < 41bp 0.490205890970442 0.72964317355985 0.1519664 0.0760842 prediction 0.459286347119701 Functional Gain - DYSF ENSG00000135636 CDS Human protein_coding chr2:71780263 chr2:71780265 nonsynonymous SNV 0.954 0 23 hm5C_associated_SNPs_115363 1 other not specified RCV000274204.3
3875 chr7 128484816 128484816 1 + A G rs3734973 128484813 + 128484793 128484833 41 ACAGGTGGCCTGGGGCTGACCGTAGAGGGCCCCTGCGAGGC ACAGGTGGCCTGGGGCTGACCGTGGAGGGCCCCTGCGAGGC < 41bp 0.482854462816599 0.7294193135569 0.3841681 0.6782224 prediction 0.4588386271138 Functional Gain - FLNC ENSG00000128591 CDS Human protein_coding chr7:128484813 chr7:128484816 synonymous SNV . 0 24 hm5C_associated_SNPs_115461 1 Benign not specified RCV000117069.4
3875 chr7 143029922 143029922 1 + C T BRCA 143029921 + 143029901 143029941 41 TCAGCTGTGTGGATTCACCCCCGGGTCAACGTTGTCATCAT TCAGCTGTGTGGATTCACCCCTGGGTCAACGTTGTCATCAT < 41bp 0.543640619602252 0.772640427633111 0.43563595 0.32259566 prediction 0.457999616061718 Functional Gain - CLCN1 ENSG00000188037 CDS Human protein_coding chr7:143029921 chr7:143029922 nonsynonymous SNV 0.703 2 22 hm5C_associated_SNPs_115628 1 Uncertain significance not specified RCV000484220.1
3875 chrX 154003527 154003527 1 + C T COAD 154003526 + 154003506 154003546 41 AAAAGCCCCGCAGGTAGTTGCCGAAGCAGCAAAAACTGCGA AAAAGCCCCGCAGGTAGTTGCTGAAGCAGCAAAAACTGCGA < 41bp 0.538589338326947 0.767535465468617 0.63745457 0.4367516 prediction 0.45789225428334 Functional Gain - DKC1 ENSG00000130826 CDS Human protein_coding chrX:154003526 chrX:154003527 synonymous SNV . 0 22 hm5C_associated_SNPs_115651 1 Likely benign Dyskeratosis congenita RCV000473603.1
3875 chr17 68172064 68172064 1 + T C UCEC 68172062 + 68172042 68172082 41 GACAACGCAGACTTTGAAATCGTGGTCATACTGGAAGGCAT GACAACGCAGACTTTGAAATCGCGGTCATACTGGAAGGCAT < 41bp 0.587096196736233 0.815470219416824 0.53216696 0.56693673 prediction 0.456748045361183 Functional Gain - KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68172062 chr17:68172064 nonsynonymous SNV 0.992 5 23 hm5C_associated_SNPs_115917 1 Uncertain significance not provided RCV000171667.1
3875 chr2 1481070 1481070 1 + C G rs28910597 1481069 + 1481049 1481089 41 GAGGCAGCTGCGGAACTGGACCAGTGCCGAAGGGCTGCTCC GAGGCAGCTGCGGAACTGGACGAGTGCCGAAGGGCTGCTCC < 41bp 0.419437000490854 0.728118609981313 0.43134594 0.8415785 prediction 0.456237219962625 Functional Gain - TPO ENSG00000115705 CDS Human protein_coding chr2:1481069 chr2:1481070 synonymous SNV . 0 22 hm5C_associated_SNPs_116020 1 Likely benign Congenital hypothyroidism RCV000298234.1
3875 chr15 85400994 85400994 1 + C T STAD 85400993 + 85400973 85401013 41 GAAGTGGCTGGGCTTAGTCCCCGGACATCGAGGCGCATCCT GAAGTGGCTGGGCTTAGTCCCTGGACATCGAGGCGCATCCT < 41bp 0.487796619605084 0.728071773169853 0.90522444 0.8933831 prediction 0.456143546339707 Functional Gain - ALPK3 ENSG00000136383 CDS Human protein_coding chr15:85400993 chr15:85400994 nonsynonymous SNV 0.897 3 22 hm5C_associated_SNPs_116036 1 Uncertain significance not specified RCV000438360.1
3875 chr19 41518370 41518370 1 + C T OV 41518369 + 41518349 41518389 41 GTCACCCAACACACCAGCTTCCGAGGGTACATCATCCCCAA GTCACCCAACACACCAGCTTCTGAGGGTACATCATCCCCAA < 41bp 0.550615124472299 0.778519890033638 0.81997585 0.34408012 prediction 0.455809531122678 Functional Gain - CYP2B6 ENSG00000197408 CDS Human protein_coding chr19:41518369 chr19:41518370 stopgain 0.434 1 22 hm5C_associated_SNPs_116106 1 drug response Efavirenz response RCV000133446.1
3875 chr17 78064032 78064032 1 + A G rs371158080 78064029 + 78064009 78064049 41 CACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAA CACGAAGAACACGGGACGCGCGCGGGCACGTGCACGAACAA < 41bp 0.486934503158411 0.727897109125591 0.27546507 0.7535818 prediction 0.455794218251182 Functional Gain - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78064029 chr17:78064032 nonsynonymous SNV 0.005 1 24 hm5C_associated_SNPs_116110 1 Benign not specified RCV000203114.1
3875 chr5 236581 236581 1 + C T LUAD 236580 + 236560 236600 41 TGGCCAGGATCAGATTGTGCCCGGCCTGTACGCCTGTGGGG TGGCCAGGATCAGATTGTGCCTGGCCTGTACGCCTGTGGGG < 41bp 0.486309874282922 0.727797644743256 0.18597597 0.12637031 prediction 0.455595289486513 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:236580 chr5:236581 synonymous SNV . 0 22 hm5C_associated_SNPs_116153 2 Likely benign Mitochondrial complex II deficiency RCV000233072.2
3875 chr5 236581 236581 1 + C T LUAD 236580 + 236560 236600 41 TGGCCAGGATCAGATTGTGCCCGGCCTGTACGCCTGTGGGG TGGCCAGGATCAGATTGTGCCTGGCCTGTACGCCTGTGGGG < 41bp 0.486309874282922 0.727797644743256 0.18597597 0.12637031 prediction 0.455595289486513 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:236580 chr5:236581 synonymous SNV . 0 22 hm5C_associated_SNPs_116153 2 Likely benign Paragangliomas 5 RCV000233072.2
3875 chr18 59992591 59992591 1 + C G rs35589394 59992590 + 59992570 59992610 41 CAGCCTGTCCCGCGCCATGGCCCCGCGCGCCCGGCGGCGCC CAGCCTGTCCCGCGCCATGGCGCCGCGCGCCCGGCGGCGCC < 41bp 0.640937885166404 0.868516907361041 0.22240275 0.5295951 prediction 0.455158044389274 Functional Gain - TNFRSF11A ENSG00000141655 CDS Human protein_coding chr18:59992590 chr18:59992591 synonymous SNV . 0 22 hm5C_associated_SNPs_116252 3 Benign not specified RCV000173311.1
3875 chr18 59992591 59992591 1 + C G rs35589394 59992590 + 59992570 59992610 41 CAGCCTGTCCCGCGCCATGGCCCCGCGCGCCCGGCGGCGCC CAGCCTGTCCCGCGCCATGGCGCCGCGCGCCCGGCGGCGCC < 41bp 0.640937885166404 0.868516907361041 0.22240275 0.5295951 prediction 0.455158044389274 Functional Gain - TNFRSF11A ENSG00000141655 CDS Human protein_coding chr18:59992590 chr18:59992591 synonymous SNV . 0 22 hm5C_associated_SNPs_116252 3 Likely benign Osteopetrosis RCV000273161.1
3875 chr18 59992591 59992591 1 + C G rs35589394 59992590 + 59992570 59992610 41 CAGCCTGTCCCGCGCCATGGCCCCGCGCGCCCGGCGGCGCC CAGCCTGTCCCGCGCCATGGCGCCGCGCGCCCGGCGGCGCC < 41bp 0.640937885166404 0.868516907361041 0.22240275 0.5295951 prediction 0.455158044389274 Functional Gain - TNFRSF11A ENSG00000141655 CDS Human protein_coding chr18:59992590 chr18:59992591 synonymous SNV . 0 22 hm5C_associated_SNPs_116252 3 Likely benign Paget disease of bone RCV000381723.1
3875 chr10 18829648 18829648 1 + T A rs189039831 18829644 + 18829624 18829664 41 GAGCCGGAACTCGCTATATGCACGTGTGTGTGTCCGTATGT GAGCCGGAACTCGCTATATGCACGAGTGTGTGTCCGTATGT < 41bp 0.554229574642249 0.781721918233846 0.26093706 0.22493157 prediction 0.454984687183194 Functional Gain - CACNB2 ENSG00000240291 ncRNA_intronic Human antisense chr10:18829644 chr10:18829648 . . 0 25 hm5C_associated_SNPs_116291 1 Likely benign Brugada syndrome RCV000327251.1
3875 chr17 58227349 58227349 1 + C G rs367981628 58227348 + 58227328 58227368 41 CGCTGCACCCGCGGCGGCCTCCTCGGTGCGCGACCCCCGGC CGCTGCACCCGCGGCGGCCTCGTCGGTGCGCGACCCCCGGC < 41bp 0.626150501967905 0.853239252817237 0.45375034 0.6704456 prediction 0.454177501698664 Functional Gain - CA4 ENSG00000167434 UTR5 Human protein_coding chr17:58227348 chr17:58227349 . . 0 22 hm5C_associated_SNPs_116468 1 Likely benign Retinitis Pigmentosa, Dominant RCV000375976.1
3875 chr9 71835835 71835835 1 + C T rs181450555 71835834 + 71835814 71835854 41 GCCCCGGAAGGTCCAGGTGGCCGCACTTCAGGCCAGCCCTC GCCCCGGAAGGTCCAGGTGGCTGCACTTCAGGCCAGCCCTC < 41bp 0.484894755573099 0.727027594071474 0.614181 0.8711412 prediction 0.454055188142948 Functional Gain - TJP2 ENSG00000119139 CDS Human protein_coding chr9:71835834 chr9:71835835 synonymous SNV . 0 22 hm5C_associated_SNPs_116497 1 Benign not specified RCV000281151.2
3875 chr10 85970780 85970780 1 + C T rs542195636 85970779 + 85970759 85970799 41 CCTGGCTGTTGAAGTGAACACCCCAGAGAAGTTCAGTTCCA CCTGGCTGTTGAAGTGAACACTCCAGAGAAGTTCAGTTCCA < 41bp 0.603019794540353 0.829953705718406 0.24980718 0.9479021 prediction 0.453867822356105 Functional Gain - CDHR1 ENSG00000148600 CDS Human protein_coding chr10:85970779 chr10:85970780 synonymous SNV . 0 22 hm5C_associated_SNPs_116549 1 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000397236.1
3875 chr12 110012659 110012659 1 + C T SKCM 110012658 + 110012638 110012678 41 AAGTCCTACTGGTGTCTGCTCCGGGGAAAGTCATCCTTCAT AAGTCCTACTGGTGTCTGCTCTGGGGAAAGTCATCCTTCAT < 41bp 0.539559797914908 0.766405729560223 0.9402496 0.8878556 prediction 0.453691863290629 Functional Gain - MVK ENSG00000110921 CDS Human protein_coding chr12:110012658 chr12:110012659 nonsynonymous SNV 0.985 5 22 hm5C_associated_SNPs_116582 1 Uncertain significance not specified RCV000214007.1
3875 chr6 3225993 3225993 1 + G A rs141251993 3225994 - 3225974 3226014 41 GGGCCACTACACAGAGGGAGCCGAGCTGGTCGACTCGGTCC GGGCCACTACACAGAGGGAGCTGAGCTGGTCGACTCGGTCC < 41bp 0.498261712356959 0.726837117967481 0.83449936 0.67409575 prediction 0.453674235934962 Functional Gain - TUBB2B ENSG00000137285 CDS Human protein_coding chr6:3225994 chr6:3225993 synonymous SNV . 0 22 hm5C_associated_SNPs_116587 1 other not specified RCV000147836.3
3875 chr1 156084863 156084863 1 + C G COAD 156084859 + 156084839 156084879 41 GTCTACATCGACCGTGTGCGCTCGCTGGAAACGGAGAACGC GTCTACATCGACCGTGTGCGCTCGGTGGAAACGGAGAACGC < 41bp 0.610701665417142 0.837522424960659 0.15462175 0.24865443 prediction 0.453641519087034 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156084859 chr1:156084863 nonsynonymous SNV 0.998 5 25 hm5C_associated_SNPs_116593 1 Likely pathogenic Primary dilated cardiomyopathy RCV000041321.2
3875 chr9 131369952 131369952 1 + C T STAD 131369951 + 131369931 131369971 41 TGAGCTAGCCAAGGATGTCACCGGAGCTGAGGCATTGCTGG TGAGCTAGCCAAGGATGTCACTGGAGCTGAGGCATTGCTGG < 41bp 0.493167607423491 0.726733283330529 0.8715929 0.4497191 prediction 0.453466566661058 Functional Gain - SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131369951 chr9:131369952 synonymous SNV . 0 22 hm5C_associated_SNPs_116628 2 Benign not specified RCV000189460.1
3875 chr9 131369952 131369952 1 + C T STAD 131369951 + 131369931 131369971 41 TGAGCTAGCCAAGGATGTCACCGGAGCTGAGGCATTGCTGG TGAGCTAGCCAAGGATGTCACTGGAGCTGAGGCATTGCTGG < 41bp 0.493167607423491 0.726733283330529 0.8715929 0.4497191 prediction 0.453466566661058 Functional Gain - SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131369951 chr9:131369952 synonymous SNV . 0 22 hm5C_associated_SNPs_116628 2 Likely benign Early infantile epileptic encephalopathy RCV000229811.2
3875 chr17 7578440 7578440 1 + T C CESC 7578438 + 7578418 7578458 41 TCCGTCATGTGCTGTGACTGCTTGTAGATGGCCATGGCGCG TCCGTCATGTGCTGTGACTGCTCGTAGATGGCCATGGCGCG < 41bp 0.495625040050135 0.726717730909161 0.19284931 0.21579987 prediction 0.453435461818322 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7578438 chr17:7578440 nonsynonymous SNV 0.176 5 23 hm5C_associated_SNPs_116633 1 Uncertain significance not specified RCV000235745.1
3875 chr2 47637443 47637443 1 + C T LUAD 47637442 + 47637422 47637462 41 AATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATG AATCTTGAGGCTCTCCTCATCTAGATTGGACCAAAGGAATG < 41bp 0.566891539713012 0.793549002498714 0.28355566 0.26504588 prediction 0.453314925571405 Functional Gain - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637442 chr2:47637443 stopgain 1.000 1 22 hm5C_associated_SNPs_116661 2 Pathogenic Lynch syndrome RCV000076645.2
3875 chr2 47637443 47637443 1 + C T LUAD 47637442 + 47637422 47637462 41 AATCTTGAGGCTCTCCTCATCCAGATTGGACCAAAGGAATG AATCTTGAGGCTCTCCTCATCTAGATTGGACCAAAGGAATG < 41bp 0.566891539713012 0.793549002498714 0.28355566 0.26504588 prediction 0.453314925571405 Functional Gain - MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637442 chr2:47637443 stopgain 1.000 1 22 hm5C_associated_SNPs_116661 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000490948.1
3875 chr16 28944282 28944282 1 + C T rs117769220 28944281 + 28944261 28944301 41 CTAGGTGGCCTGGGCTGTGGCCTGAAGAACAGGTCCTCAGA CTAGGTGGCCTGGGCTGTGGCTTGAAGAACAGGTCCTCAGA < 41bp 0.480938070585456 0.726549895700387 0.40134922 0.19304809 prediction 0.453099791400774 Functional Gain - CD19 ENSG00000177455 CDS Human protein_coding chr16:28944281 chr16:28944282 synonymous SNV . 0 22 hm5C_associated_SNPs_116704 1 Likely benign Common Variable Immune Deficiency, Recessive RCV000270812.1
3875 chr19 3193402 3193402 1 + C T CESC 3193401 + 3193381 3193421 41 ACCCAGGCTGCCTCCGCCTCCCAGGGCTCCGCCTCTGCTGC ACCCAGGCTGCCTCCGCCTCCTAGGGCTCCGCCTCTGCTGC < 41bp 0.56532404900131 0.79185905912573 0.89488405 0.38407087 prediction 0.45307002024884 Functional Gain - NCLN ENSG00000125912 CDS Human protein_coding chr19:3193401 chr19:3193402 stopgain 0.948 0 22 hm5C_associated_SNPs_116708 1 Likely pathogenic Hirschsprung disease 1 RCV000416337.1
3875 chr20 4680070 4680070 1 + T C rs532493114 4680068 + 4680048 4680088 41 ATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGG ATGGTGGTGGCTGGGGGCAGCCCCATGGTGGTGGCTGGGGG < 41bp 0.598795574883041 0.825276900475224 0.5182059 0.8765784 prediction 0.452962651184367 Functional Gain - PRNP ENSG00000171867 CDS Human protein_coding chr20:4680068 chr20:4680070 synonymous SNV . 0 23 hm5C_associated_SNPs_116731 1 Likely benign Genetic prion diseases RCV000383267.1
3875 chr11 117864047 117864047 1 + A G rs2256111 117864044 + 117864024 117864064 41 CCCAGGCCCAAGATGGCCCCCGCAAATGACACATATGAAAG CCCAGGCCCAAGATGGCCCCCGCGAATGACACATATGAAAG < 41bp 0.534154425317917 0.760610145956489 0.113378406 0.15947655 prediction 0.452911441277143 Functional Gain - IL10RA ENSG00000110324 CDS Human protein_coding chr11:117864044 chr11:117864047 nonsynonymous SNV . 0 24 hm5C_associated_SNPs_116737 2 Benign Inflammatory bowel disease RCV000297163.1
3875 chr11 117864047 117864047 1 + A G rs2256111 117864044 + 117864024 117864064 41 CCCAGGCCCAAGATGGCCCCCGCAAATGACACATATGAAAG CCCAGGCCCAAGATGGCCCCCGCGAATGACACATATGAAAG < 41bp 0.534154425317917 0.760610145956489 0.113378406 0.15947655 prediction 0.452911441277143 Functional Gain - IL10RA ENSG00000110324 CDS Human protein_coding chr11:117864044 chr11:117864047 nonsynonymous SNV . 0 24 hm5C_associated_SNPs_116737 2 Benign not specified RCV000454846.1
3875 chr20 30408157 30408157 1 + C T ESCA 30408156 + 30408136 30408176 41 CGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCAG CGGAGGGCAGTGCTGGGCCCCTGGCAGCCCTGCCCCAGCAG < 41bp 0.509031429419302 0.735396807184416 0.5359737 0.29626834 prediction 0.452730755530228 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408156 chr20:30408157 nonsynonymous SNV 0.033 0 22 hm5C_associated_SNPs_116789 2 Likely benign not specified RCV000183552.2
3875 chr20 30408157 30408157 1 + C T ESCA 30408156 + 30408136 30408176 41 CGGAGGGCAGTGCTGGGCCCCCGGCAGCCCTGCCCCAGCAG CGGAGGGCAGTGCTGGGCCCCTGGCAGCCCTGCCCCAGCAG < 41bp 0.509031429419302 0.735396807184416 0.5359737 0.29626834 prediction 0.452730755530228 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30408156 chr20:30408157 nonsynonymous SNV 0.033 0 22 hm5C_associated_SNPs_116789 2 Likely benign Familial hypertrophic cardiomyopathy 1 RCV000467946.1
3875 chr11 88924452 88924452 1 + C T SKCM 88924451 + 88924431 88924471 41 AGGGACCTTTACGGCGTAATCCTGGAAACCATGACAAATCC AGGGACCTTTACGGCGTAATCTTGGAAACCATGACAAATCC < 41bp 0.56951706214546 0.795811727546542 0.3950979 0.15253717 prediction 0.452589330802162 Functional Gain - TYR ENSG00000077498 CDS Human protein_coding chr11:88924451 chr11:88924452 nonsynonymous SNV 0.989 5 22 hm5C_associated_SNPs_116826 1 Likely pathogenic Oculocutaneous albinism type 1 RCV000186574.1
3875 chr15 91354520 91354520 1 + C T rs56009845 91354519 + 91354499 91354539 41 GGAGCTCGACGAGGAAATACCCGTATCTTCCCACTACTTTG GGAGCTCGACGAGGAAATACCTGTATCTTCCCACTACTTTG < 41bp 0.47425316044286 0.726193020642695 0.2178807 0.42412233 prediction 0.452386041285389 Functional Gain - BLM ENSG00000197299 CDS Human protein_coding chr15:91354519 chr15:91354520 synonymous SNV . 0 22 hm5C_associated_SNPs_116871 2 Benign not specified RCV000123852.2
3875 chr15 91354520 91354520 1 + C T rs56009845 91354519 + 91354499 91354539 41 GGAGCTCGACGAGGAAATACCCGTATCTTCCCACTACTTTG GGAGCTCGACGAGGAAATACCTGTATCTTCCCACTACTTTG < 41bp 0.47425316044286 0.726193020642695 0.2178807 0.42412233 prediction 0.452386041285389 Functional Gain - BLM ENSG00000197299 CDS Human protein_coding chr15:91354519 chr15:91354520 synonymous SNV . 0 22 hm5C_associated_SNPs_116871 2 other Bloom syndrome RCV000229324.3
3875 chr12 111057747 111057747 1 + A G rs140230455 111057744 + 111057724 111057764 41 TTCAGTGTCTTTTCTGCCTGCTCAGTTCCAGTTGTCACGTA TTCAGTGTCTTTTCTGCCTGCTCGGTTCCAGTTGTCACGTA < 41bp 0.528501120842118 0.754677414068175 0.12141526 0.21939138 prediction 0.452352586452114 Functional Gain - TCTN1 ENSG00000204852 CDS Human protein_coding chr12:111057744 chr12:111057747 synonymous SNV . 0 24 hm5C_associated_SNPs_116878 3 Uncertain significance Joubert syndrome RCV000299519.1
3875 chr12 111057747 111057747 1 + A G rs140230455 111057744 + 111057724 111057764 41 TTCAGTGTCTTTTCTGCCTGCTCAGTTCCAGTTGTCACGTA TTCAGTGTCTTTTCTGCCTGCTCGGTTCCAGTTGTCACGTA < 41bp 0.528501120842118 0.754677414068175 0.12141526 0.21939138 prediction 0.452352586452114 Functional Gain - TCTN1 ENSG00000204852 CDS Human protein_coding chr12:111057744 chr12:111057747 synonymous SNV . 0 24 hm5C_associated_SNPs_116878 3 Benign Joubert syndrome RCV000466634.1
3875 chr12 111057747 111057747 1 + A G rs140230455 111057744 + 111057724 111057764 41 TTCAGTGTCTTTTCTGCCTGCTCAGTTCCAGTTGTCACGTA TTCAGTGTCTTTTCTGCCTGCTCGGTTCCAGTTGTCACGTA < 41bp 0.528501120842118 0.754677414068175 0.12141526 0.21939138 prediction 0.452352586452114 Functional Gain - TCTN1 ENSG00000204852 CDS Human protein_coding chr12:111057744 chr12:111057747 synonymous SNV . 0 24 hm5C_associated_SNPs_116878 3 Benign Meckel-Gruber syndrome RCV000466634.1
3875 chr19 50905094 50905094 1 + C T SKCM 50905093 + 50905073 50905113 41 CGCGGCTCCGTGCCTGTGCTCCGCGCCTTCGGGGTCACCGA CGCGGCTCCGTGCCTGTGCTCTGCGCCTTCGGGGTCACCGA < 41bp 0.550780287547874 0.776879317976761 0.38982072 0.19505742 prediction 0.452198060857774 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50905093 chr19:50905094 nonsynonymous SNV 0.007 3 22 hm5C_associated_SNPs_116914 1 Uncertain significance Colorectal cancer 10 RCV000205808.1
3875 chr17 15902816 15902816 1 + C A rs60636875 15902812 + 15902792 15902832 41 CCGCGCCCATGGCGCAGCCACACACGACCTCGGTCCCGTAC CCGCGCCCATGGCGCAGCCACACAAGACCTCGGTCCCGTAC < 41bp 0.693557217095788 0.919593748495245 0.15339506 0.17469916 prediction 0.452073062798915 Functional Gain - TTC19 ENSG00000011295;ENSG00000214941 exonic;splicing Human other chr17:15902812 chr17:15902816 nonsynonymous SNV . 0 25 hm5C_associated_SNPs_116941 2 Benign not specified RCV000173455.2
3875 chr17 15902816 15902816 1 + C A rs60636875 15902812 + 15902792 15902832 41 CCGCGCCCATGGCGCAGCCACACACGACCTCGGTCCCGTAC CCGCGCCCATGGCGCAGCCACACAAGACCTCGGTCCCGTAC < 41bp 0.693557217095788 0.919593748495245 0.15339506 0.17469916 prediction 0.452073062798915 Functional Gain - TTC19 ENSG00000011295;ENSG00000214941 exonic;splicing Human other chr17:15902812 chr17:15902816 nonsynonymous SNV . 0 25 hm5C_associated_SNPs_116941 2 Likely benign Mitochondrial complex III deficiency RCV000292135.1
3875 chr16 8866684 8866684 1 + C T rs149855547 8866683 + 8866663 8866703 41 GAAAAAGAAGAAGACGGTGGCCGGGATCATCGTGGAGCCCA GAAAAAGAAGAAGACGGTGGCTGGGATCATCGTGGAGCCCA < 41bp 0.553055609605619 0.778855052649274 0.8678793 0.6250292 prediction 0.45159888608731 Functional Gain - ABAT ENSG00000183044 CDS Human protein_coding chr16:8866683 chr16:8866684 synonymous SNV . 0 22 hm5C_associated_SNPs_117051 1 Uncertain significance Gamma-aminobutyric acid transaminase deficiency RCV000281494.1
3875 chr17 78075384 78075384 1 + C G rs144639114 78075380 + 78075360 78075400 41 CCTCTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGG CCTCTGCGCGCCCCCGGGCACGACGCCGGAGTCTCCGCGGG < 41bp 0.614206455852393 0.839942504379386 0.26328 0.37893733 prediction 0.451472097053986 Functional Gain - GAA ENSG00000171298 UTR5 Human protein_coding chr17:78075380 chr17:78075384 . . 0 25 hm5C_associated_SNPs_117083 2 Likely benign Glycogen storage disease, type II RCV000271949.1
3875 chr17 78075384 78075384 1 + C G rs144639114 78075380 + 78075360 78075400 41 CCTCTGCGCGCCCCCGGGCACGACCCCGGAGTCTCCGCGGG CCTCTGCGCGCCCCCGGGCACGACGCCGGAGTCTCCGCGGG < 41bp 0.614206455852393 0.839942504379386 0.26328 0.37893733 prediction 0.451472097053986 Functional Gain - GAA ENSG00000171298 UTR5 Human protein_coding chr17:78075380 chr17:78075384 . . 0 25 hm5C_associated_SNPs_117083 2 Likely benign Primary ciliary dyskinesia RCV000294842.1
3875 chr11 71821156 71821156 1 + G A LUSC 71821157 - 71821137 71821177 41 TGAATGACTACAATGAGTCACCGGATGATGGAGAGGTCAAT TGAATGACTACAATGAGTCACTGGATGATGGAGAGGTCAAT < 41bp 0.57861071130546 0.804179694768461 0.17570475 0.05041787 prediction 0.451137966926002 Functional Gain - ANAPC15 ENSG00000110200 CDS Human protein_coding chr11:71821157 chr11:71821156 nonsynonymous SNV 0.997 4 22 hm5C_associated_SNPs_117161 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000272780.1
3875 chr16 90001587 90001587 1 + C T READ 90001586 + 90001566 90001606 41 TCACCACCTCCTTGCGCTTCCCGGGCCAGCTCAACGCTGAC TCACCACCTCCTTGCGCTTCCTGGGCCAGCTCAACGCTGAC < 41bp 0.539529252588724 0.764655502761793 0.87733096 0.49490017 prediction 0.450252500346139 Functional Gain - TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:90001586 chr16:90001587 nonsynonymous SNV 0.608 4 22 hm5C_associated_SNPs_117353 1 Uncertain significance Cortical dysplasia, complex, with other brain malformations 1 RCV000147856.1
3875 chr2 48030619 48030619 1 + T C UCEC 48030616 + 48030596 48030636 41 TGATGGTCCTATGTGTCGCCCAGTAATTCTGTTGCCGGAAG TGATGGTCCTATGTGTCGCCCAGCAATTCTGTTGCCGGAAG < 41bp 0.499496670981949 0.725031882086513 0.52795935 0.5119731 prediction 0.450063764173027 Functional Gain - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48030616 chr2:48030619 nonsynonymous SNV 0.998 1 24 hm5C_associated_SNPs_117396 3 Uncertain significance not specified RCV000121586.1
3875 chr2 48030619 48030619 1 + T C UCEC 48030616 + 48030596 48030636 41 TGATGGTCCTATGTGTCGCCCAGTAATTCTGTTGCCGGAAG TGATGGTCCTATGTGTCGCCCAGCAATTCTGTTGCCGGAAG < 41bp 0.499496670981949 0.725031882086513 0.52795935 0.5119731 prediction 0.450063764173027 Functional Gain - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48030616 chr2:48030619 nonsynonymous SNV 0.998 1 24 hm5C_associated_SNPs_117396 3 Uncertain significance Lynch syndrome RCV000200854.3
3875 chr2 48030619 48030619 1 + T C UCEC 48030616 + 48030596 48030636 41 TGATGGTCCTATGTGTCGCCCAGTAATTCTGTTGCCGGAAG TGATGGTCCTATGTGTCGCCCAGCAATTCTGTTGCCGGAAG < 41bp 0.499496670981949 0.725031882086513 0.52795935 0.5119731 prediction 0.450063764173027 Functional Gain - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48030616 chr2:48030619 nonsynonymous SNV 0.998 1 24 hm5C_associated_SNPs_117396 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000214188.2
3875 chr17 78059953 78059953 1 + C G rs139435501 78059949 + 78059929 78059969 41 CACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCC CACAGGAGCAGGAGGAGCAGCTGGGCTCCCTGGACGCATCC < 41bp 0.411535513691493 0.724829446444993 0.23034126 0.62668663 prediction 0.449658892889985 Functional Gain - CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78059949 chr17:78059953 nonsynonymous SNV 0.013 0 25 hm5C_associated_SNPs_117489 1 Uncertain significance Primary ciliary dyskinesia RCV000372636.1
3875 chr15 89386841 89386841 1 + C T SKCM 89386840 + 89386820 89386860 41 ATGCCAACCAGACGGGCTACCCCGACCCCTCATCCCGCTAC ATGCCAACCAGACGGGCTACCTCGACCCCTCATCCCGCTAC < 41bp 0.590316980791436 0.81512087238791 0.0328542 0.091909945 prediction 0.449607783192946 Functional Gain - ACAN ENSG00000157766 CDS Human protein_coding chr15:89386840 chr15:89386841 nonsynonymous SNV 0.555 3 22 hm5C_associated_SNPs_117499 1 Uncertain significance not specified RCV000430818.1
3875 chr1 10659333 10659333 1 + T G rs77261230 10659330 + 10659310 10659350 41 AGATTGATATGGCCTTCCAGCAGTCGGGCACTGCTGCCGAT AGATTGATATGGCCTTCCAGCAGGCGGGCACTGCTGCCGAT < 41bp 0.325830775781983 0.724786280692533 0.1883437 0.90865767 prediction 0.449572561385065 Functional Gain - PEX14 ENSG00000142655 CDS Human protein_coding chr1:10659330 chr1:10659333 nonsynonymous SNV 1.000 1 24 hm5C_associated_SNPs_117503 1 Uncertain significance Zellweger syndrome RCV000311466.1
3875 chr13 103504517 103504517 1 + T C rs1047768 103504515 + 103504495 103504535 41 TTAAAGGAGTCCGGGATCGCCATGGGAACTCAATAGAAAAT TTAAAGGAGTCCGGGATCGCCACGGGAACTCAATAGAAAAT < 41bp 0.441039277262148 0.724386027741294 0.9008533 0.8945029 prediction 0.448772055482588 Functional Gain - BIVM-ERCC5;ERCC5 ENSG00000134899;ENSG00000270181 CDS Human other chr13:103504515 chr13:103504517 synonymous SNV . 0 23 hm5C_associated_SNPs_117709 2 other not specified RCV000116990.3
3875 chr13 103504517 103504517 1 + T C rs1047768 103504515 + 103504495 103504535 41 TTAAAGGAGTCCGGGATCGCCATGGGAACTCAATAGAAAAT TTAAAGGAGTCCGGGATCGCCACGGGAACTCAATAGAAAAT < 41bp 0.441039277262148 0.724386027741294 0.9008533 0.8945029 prediction 0.448772055482588 Functional Gain - BIVM-ERCC5;ERCC5 ENSG00000134899;ENSG00000270181 CDS Human other chr13:103504515 chr13:103504517 synonymous SNV . 0 23 hm5C_associated_SNPs_117709 2 Benign Xeroderma pigmentosum RCV000272532.1
3875 chr19 47259886 47259886 1 + A G rs145894568 47259883 + 47259863 47259903 41 GTGGTGGATGAGCGCGGCTTCGTATGGGAGAAGGCGGTCGA GTGGTGGATGAGCGCGGCTTCGTGTGGGAGAAGGCGGTCGA < 41bp 0.548190921198322 0.772566676026264 0.20435843 0.3576973 prediction 0.448751509655884 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47259883 chr19:47259886 synonymous SNV . 0 24 hm5C_associated_SNPs_117715 1 Likely benign not specified RCV000178362.2
3875 chr3 30648074 30648074 1 + A G rs138010137 30648071 + 30648051 30648091 41 TTCCTGTTTCCCCCGCAGCGCTGAGTTGAAGTTGAGTGAGT TTCCTGTTTCCCCCGCAGCGCTGGGTTGAAGTTGAGTGAGT < 41bp 0.533916844596025 0.758028619988647 0.3806004 0.8391346 prediction 0.448223550785245 Functional Gain - TGFBR2 ENSG00000163513 UTR5 Human protein_coding chr3:30648071 chr3:30648074 . . 0 24 hm5C_associated_SNPs_117838 3 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000261147.1
3875 chr3 30648074 30648074 1 + A G rs138010137 30648071 + 30648051 30648091 41 TTCCTGTTTCCCCCGCAGCGCTGAGTTGAAGTTGAGTGAGT TTCCTGTTTCCCCCGCAGCGCTGGGTTGAAGTTGAGTGAGT < 41bp 0.533916844596025 0.758028619988647 0.3806004 0.8391346 prediction 0.448223550785245 Functional Gain - TGFBR2 ENSG00000163513 UTR5 Human protein_coding chr3:30648071 chr3:30648074 . . 0 24 hm5C_associated_SNPs_117838 3 Likely benign Marfan syndrome RCV000332612.1
3875 chr3 30648074 30648074 1 + A G rs138010137 30648071 + 30648051 30648091 41 TTCCTGTTTCCCCCGCAGCGCTGAGTTGAAGTTGAGTGAGT TTCCTGTTTCCCCCGCAGCGCTGGGTTGAAGTTGAGTGAGT < 41bp 0.533916844596025 0.758028619988647 0.3806004 0.8391346 prediction 0.448223550785245 Functional Gain - TGFBR2 ENSG00000163513 UTR5 Human protein_coding chr3:30648071 chr3:30648074 . . 0 24 hm5C_associated_SNPs_117838 3 Likely benign Loeys-Dietz syndrome RCV000389483.1
3875 chr10 104837392 104837392 1 + C T rs3740389 104837391 + 104837371 104837411 41 GATGGGCTGGACTTGCCCCTCCGGTAGCCTTCCTTGGCCCT GATGGGCTGGACTTGCCCCTCTGGTAGCCTTCCTTGGCCCT < 41bp 0.498881892949366 0.724061479890195 0.8439143 0.5259442 prediction 0.448122959780391 Functional Gain - CNNM2 ENSG00000148842 UTR3 Human protein_coding chr10:104837391 chr10:104837392 . . 0 22 hm5C_associated_SNPs_117854 1 Likely benign Renal Hypomagnesemia, Dominant RCV000383064.1
3875 chr5 176815124 176815124 1 + T C rs5030873 176815122 + 176815102 176815142 41 TGGTGGCCTCCTTCAACATCCATGGTGGCCGTGATGCTCCT TGGTGGCCTCCTTCAACATCCACGGTGGCCGTGATGCTCCT < 41bp 0.448303383927545 0.724019954049161 0.31348267 0.30620784 prediction 0.448039908098323 Functional Gain - SLC34A1 ENSG00000131183 CDS Human protein_coding chr5:176815122 chr5:176815124 synonymous SNV . 0 23 hm5C_associated_SNPs_117876 1 Benign Hypophosphatemic Nephrolithiasis/Osteoporosis RCV000333130.1
3875 chr20 62566916 62566916 1 + A G rs115323539 62566913 + 62566893 62566933 41 GAAACATGAAAGCTGATTTTCTGAGCAGCAGATACGGTCAG GAAACATGAAAGCTGATTTTCTGGGCAGCAGATACGGTCAG < 41bp 0.547098673122873 0.770670550178828 0.74379635 0.85550725 prediction 0.447143754111911 Functional Gain - DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566913 chr20:62566916 . . 0 24 hm5C_associated_SNPs_118095 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000362685.1
3875 chr13 41373415 41373415 1 + G A rs369201060 41373416 - 41373396 41373436 41 TTGTCCAATCCAGCCACTTTCCGCACCACCTGCTGGCAGAA TTGTCCAATCCAGCCACTTTCTGCACCACCTGCTGGCAGAA < 41bp 0.584335176227216 0.807882319436931 0.26910383 0.1912426 prediction 0.447094286419431 Functional Gain - SLC25A15 ENSG00000102743 CDS Human protein_coding chr13:41373416 chr13:41373415 nonsynonymous SNV 0.021 1 22 hm5C_associated_SNPs_118105 1 Uncertain significance Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000367821.1
3875 chr17 79495707 79495707 1 + C G rs184519759 79495706 + 79495686 79495726 41 GCAGACCTGGGTGCTGGAACCCGACCCAGGACAAGGCACGG GCAGACCTGGGTGCTGGAACCGGACCCAGGACAAGGCACGG < 41bp 0.406913237091743 0.723345403738566 0.45467186 0.8602816 prediction 0.446690807477131 Functional Gain - FSCN2 ENSG00000186765 CDS Human protein_coding chr17:79495706 chr17:79495707 synonymous SNV . 0 22 hm5C_associated_SNPs_118197 1 Likely benign not specified RCV000153277.3
3875 chr5 156680629 156680629 1 + C A rs3892245 156680625 + 156680605 156680645 41 TTTTTCCAGCCTCTGGGAATCAGCCCCCCCTCTCTGCACTA TTTTTCCAGCCTCTGGGAATCAGCACCCCCTCTCTGCACTA < 41bp 0.340845254667995 0.723298402353807 0.15230536 0.13819703 prediction 0.446596804707613 Functional Gain - ITK ENSG00000113263 UTR3 Human protein_coding chr5:156680625 chr5:156680629 . . 0 25 hm5C_associated_SNPs_118219 1 Likely benign Lymphoproliferative syndrome RCV000349646.1
3875 chr5 7889304 7889304 1 + C T rs2287780 7889303 + 7889283 7889323 41 CAAGGGGCAGCCGATTATAGCCGCTTTGTACGAGATGCCTG CAAGGGGCAGCCGATTATAGCTGCTTTGTACGAGATGCCTG < 41bp 0.478707749781752 0.723202581104488 0.22099045 0.2238445 prediction 0.446405162208977 Functional Gain - MTRR ENSG00000124275 CDS Human protein_coding chr5:7889303 chr5:7889304 nonsynonymous SNV 0.029 3 22 hm5C_associated_SNPs_118258 2 Benign not specified RCV000126872.2
3875 chr5 7889304 7889304 1 + C T rs2287780 7889303 + 7889283 7889323 41 CAAGGGGCAGCCGATTATAGCCGCTTTGTACGAGATGCCTG CAAGGGGCAGCCGATTATAGCTGCTTTGTACGAGATGCCTG < 41bp 0.478707749781752 0.723202581104488 0.22099045 0.2238445 prediction 0.446405162208977 Functional Gain - MTRR ENSG00000124275 CDS Human protein_coding chr5:7889303 chr5:7889304 nonsynonymous SNV 0.029 3 22 hm5C_associated_SNPs_118258 2 Likely benign Disorders of Intracellular Cobalamin Metabolism RCV000295321.1
3875 chr11 119044752 119044752 1 + C T READ 119044751 + 119044731 119044771 41 TTTGTAGTGACCCGGAGGAACCGCAGGAACCAGCTGCTATC TTTGTAGTGACCCGGAGGAACTGCAGGAACCAGCTGCTATC < 41bp 0.591653204209573 0.814809852829016 0.3010708 0.4112398 prediction 0.446313297238885 Functional Gain - NLRX1 ENSG00000160703 CDS Human protein_coding chr11:119044751 chr11:119044752 nonsynonymous SNV 0.067 2 22 hm5C_associated_SNPs_118284 1 not provided not provided RCV000089408.1
3875 chr10 73121768 73121768 1 + C T rs61737431 73121767 + 73121747 73121787 41 TTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCC TTCTGGTGAAGAGGAGCTTCCTCAGGACTCCCTCAGTGCCC < 41bp 0.490953041605021 0.72300998848468 0.18094534 0.10840684 prediction 0.446019976969361 Functional Gain - SLC29A3 ENSG00000198246 CDS Human protein_coding chr10:73121767 chr10:73121768 synonymous SNV . 0 22 hm5C_associated_SNPs_118349 2 Likely benign not specified RCV000118383.2
3875 chr10 73121768 73121768 1 + C T rs61737431 73121767 + 73121747 73121787 41 TTCTGGTGAAGAGGAGCTTCCCCAGGACTCCCTCAGTGCCC TTCTGGTGAAGAGGAGCTTCCTCAGGACTCCCTCAGTGCCC < 41bp 0.490953041605021 0.72300998848468 0.18094534 0.10840684 prediction 0.446019976969361 Functional Gain - SLC29A3 ENSG00000198246 CDS Human protein_coding chr10:73121767 chr10:73121768 synonymous SNV . 0 22 hm5C_associated_SNPs_118349 2 Likely benign Histiocytosis-lymphadenopathy plus syndrome RCV000271281.1
3875 chr2 98994246 98994246 1 + C T rs139544302 98994245 + 98994225 98994265 41 CTCCGGGCAGGGCTCCTTCACCGGCCAGGGGATCGCCAGGT CTCCGGGCAGGGCTCCTTCACTGGCCAGGGGATCGCCAGGT < 41bp 0.525209410894998 0.748185163850391 0.36082888 0.2413272 prediction 0.445951505910786 Functional Gain - CNGA3 ENSG00000144191 CDS Human protein_coding chr2:98994245 chr2:98994246 synonymous SNV . 0 22 hm5C_associated_SNPs_118368 1 other not specified RCV000254496.2
3875 chr12 49314862 49314862 1 + C A rs10875894 49314861 + 49314841 49314881 41 AGAGCTTACTGAGGAGCTCACCAAGGTAAAGCCCGGGGGAT AGAGCTTACTGAGGAGCTCACAAAGGTAAAGCCCGGGGGAT < 41bp 0.451124191335168 0.72284070881577 0.86677957 0.8461851 prediction 0.44568141763154 Functional Gain - CCDC65 ENSG00000139537 CDS Human protein_coding chr12:49314861 chr12:49314862 synonymous SNV . 0 22 hm5C_associated_SNPs_118416 1 Benign not specified RCV000455011.1
3875 chr19 12924157 12924157 1 + C T rs76634951 12924156 + 12924136 12924176 41 CCACAGGGAGGACTCAGCATCCGAGAATCAGGAGGGACTCA CCACAGGGAGGACTCAGCATCTGAGAATCAGGAGGGACTCA < 41bp 0.50595869629084 0.728672896122506 0.2773947 0.17927024 prediction 0.445428399663332 Functional Gain - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12924156 chr19:12924157 synonymous SNV . 0 22 hm5C_associated_SNPs_118455 2 Likely benign Aicardi Goutieres syndrome RCV000380537.1
3875 chr19 12924157 12924157 1 + C T rs76634951 12924156 + 12924136 12924176 41 CCACAGGGAGGACTCAGCATCCGAGAATCAGGAGGGACTCA CCACAGGGAGGACTCAGCATCTGAGAATCAGGAGGGACTCA < 41bp 0.50595869629084 0.728672896122506 0.2773947 0.17927024 prediction 0.445428399663332 Functional Gain - RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12924156 chr19:12924157 synonymous SNV . 0 22 hm5C_associated_SNPs_118455 2 Benign not specified RCV000454882.1
3875 chr1 2235378 2235378 1 + C G rs140889128 2235374 + 2235354 2235394 41 TGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCTCCCGGGCCC TGTGAGCAGCCCTCCGTGTGCCGCGGCCGTCTCCCGGGCCC < 41bp 0.418850575421262 0.722548980588222 0.5164757 0.8319492 prediction 0.445097961176444 Functional Gain - SKI ENSG00000157933 CDS Human protein_coding chr1:2235374 chr1:2235378 synonymous SNV . 0 25 hm5C_associated_SNPs_118525 2 Likely benign not specified RCV000221218.2
3875 chr1 2235378 2235378 1 + C G rs140889128 2235374 + 2235354 2235394 41 TGTGAGCAGCCCTCCGTGTGCCGCCGCCGTCTCCCGGGCCC TGTGAGCAGCCCTCCGTGTGCCGCGGCCGTCTCCCGGGCCC < 41bp 0.418850575421262 0.722548980588222 0.5164757 0.8319492 prediction 0.445097961176444 Functional Gain - SKI ENSG00000157933 CDS Human protein_coding chr1:2235374 chr1:2235378 synonymous SNV . 0 25 hm5C_associated_SNPs_118525 2 Benign Shprintzen-Goldberg syndrome RCV000462719.1
3875 chr20 31022480 31022480 1 + C T rs79865730 31022479 + 31022459 31022499 41 TGGAGGTGGCGGCGGGGCCACCGATGAGGGAGGTGGCAGAG TGGAGGTGGCGGCGGGGCCACTGATGAGGGAGGTGGCAGAG < 41bp 0.516413087597017 0.738909045735025 0.44982123 0.5299369 prediction 0.444991916276017 Functional Gain - ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31022479 chr20:31022480 synonymous SNV . 0 22 hm5C_associated_SNPs_118555 1 Likely benign C-like syndrome RCV000325899.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767331 + 73767311 73767351 41 CGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGT CGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGTGT < 41bp 0.517382636215797 0.739751201609445 0.8986275 0.74670714 prediction 0.444737130787294 Functional Gain - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767331 chr10:73767332 synonymous SNV . 0 22 hm5C_associated_SNPs_118614 4 Uncertain significance Larsen syndrome RCV000296621.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767331 + 73767311 73767351 41 CGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGT CGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGTGT < 41bp 0.517382636215797 0.739751201609445 0.8986275 0.74670714 prediction 0.444737130787294 Functional Gain - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767331 chr10:73767332 synonymous SNV . 0 22 hm5C_associated_SNPs_118614 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000316546.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767331 + 73767311 73767351 41 CGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGT CGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGTGT < 41bp 0.517382636215797 0.739751201609445 0.8986275 0.74670714 prediction 0.444737130787294 Functional Gain - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767331 chr10:73767332 synonymous SNV . 0 22 hm5C_associated_SNPs_118614 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000373459.1
3875 chr10 73767332 73767332 1 + C T PAAD 73767331 + 73767311 73767351 41 CGAGCCGGGGGGCGCCAACGCCGCGGGCTCGGCCCTGGTGT CGAGCCGGGGGGCGCCAACGCTGCGGGCTCGGCCCTGGTGT < 41bp 0.517382636215797 0.739751201609445 0.8986275 0.74670714 prediction 0.444737130787294 Functional Gain - CHST3 ENSG00000122863 CDS Human protein_coding chr10:73767331 chr10:73767332 synonymous SNV . 0 22 hm5C_associated_SNPs_118614 4 Uncertain significance Skeletal dysplasia RCV000388673.1
3875 chr2 85769750 85769750 1 + T C STAD 85769748 + 85769728 85769768 41 CTTATGGCGGTTGGGGTGCTCATGGAGGAGGTGCCTTTTCA CTTATGGCGGTTGGGGTGCTCACGGAGGAGGTGCCTTTTCA < 41bp 0.626980282435669 0.849325704940989 0.8636502 0.90186685 prediction 0.444690845010639 Functional Gain - MAT2A ENSG00000168906 CDS Human protein_coding chr2:85769748 chr2:85769750 synonymous SNV . 0 23 hm5C_associated_SNPs_118623 1 Likely benign not specified RCV000431449.1
3875 chr18 72999575 72999575 1 + C T TGCT 72999574 + 72999554 72999594 41 GGATCATCATGGACCACTCACCGGAGCCTTCCTTCATCAAC GGATCATCATGGACCACTCACTGGAGCCTTCCTTCATCAAC < 41bp 0.573525679996618 0.795824878340695 0.31844598 0.03939432 prediction 0.444598396688154 Functional Gain - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72999574 chr18:72999575 nonsynonymous SNV 0.216 4 22 hm5C_associated_SNPs_118645 1 Uncertain significance Aural atresia, congenital RCV000259882.1
3875 chr17 3564218 3564218 1 + T C rs1048646 3564216 + 3564196 3564236 41 TCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAG TCTGTACATAACTCAGCGTCCGCGACTGCAGTAACAGCCAG < 41bp 0.5662189609565 0.788242229574277 0.022527188 0.045432597 prediction 0.444046537235553 Functional Gain - CTNS ENSG00000040531 UTR3 Human protein_coding chr17:3564216 chr17:3564218 . . 0 23 hm5C_associated_SNPs_118749 2 Likely benign Cystinosis RCV000327154.1
3875 chr17 3564218 3564218 1 + T C rs1048646 3564216 + 3564196 3564236 41 TCTGTACATAACTCAGCGTCCGTGACTGCAGTAACAGCCAG TCTGTACATAACTCAGCGTCCGCGACTGCAGTAACAGCCAG < 41bp 0.5662189609565 0.788242229574277 0.022527188 0.045432597 prediction 0.444046537235553 Functional Gain - CTNS ENSG00000040531 UTR3 Human protein_coding chr17:3564216 chr17:3564218 . . 0 23 hm5C_associated_SNPs_118749 2 Likely benign Nephropathic cystinosis RCV000362176.1
3875 chr2 234669619 234669619 1 + C A rs35350960 234669618 + 234669598 234669638 41 TGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCA TGTGCGACGTGGTTTATTCCCAGTATGCAACCCTTGCCTCA < 41bp 0.467287263358727 0.721840401770614 0.08013478 0.1439664 prediction 0.443680803541228 Functional Gain - UGT1A1 ENSG00000241635;ENSG00000242366 CDS Human other chr2:234669618 chr2:234669619 nonsynonymous SNV 0.031 0 22 hm5C_associated_SNPs_118823 4 other Gilbert's syndrome RCV000013062.23
3875 chr2 234669619 234669619 1 + C A rs35350960 234669618 + 234669598 234669638 41 TGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCA TGTGCGACGTGGTTTATTCCCAGTATGCAACCCTTGCCTCA < 41bp 0.467287263358727 0.721840401770614 0.08013478 0.1439664 prediction 0.443680803541228 Functional Gain - UGT1A1 ENSG00000241635;ENSG00000242366 CDS Human other chr2:234669618 chr2:234669619 nonsynonymous SNV 0.031 0 22 hm5C_associated_SNPs_118823 4 Pathogenic Crigler-Najjar syndrome, type II RCV000013063.24
3875 chr2 234669619 234669619 1 + C A rs35350960 234669618 + 234669598 234669638 41 TGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCA TGTGCGACGTGGTTTATTCCCAGTATGCAACCCTTGCCTCA < 41bp 0.467287263358727 0.721840401770614 0.08013478 0.1439664 prediction 0.443680803541228 Functional Gain - UGT1A1 ENSG00000241635;ENSG00000242366 CDS Human other chr2:234669618 chr2:234669619 nonsynonymous SNV 0.031 0 22 hm5C_associated_SNPs_118823 4 Benign not specified RCV000147905.1
3875 chr2 234669619 234669619 1 + C A rs35350960 234669618 + 234669598 234669638 41 TGTGCGACGTGGTTTATTCCCCGTATGCAACCCTTGCCTCA TGTGCGACGTGGTTTATTCCCAGTATGCAACCCTTGCCTCA < 41bp 0.467287263358727 0.721840401770614 0.08013478 0.1439664 prediction 0.443680803541228 Functional Gain - UGT1A1 ENSG00000241635;ENSG00000242366 CDS Human other chr2:234669618 chr2:234669619 nonsynonymous SNV 0.031 0 22 hm5C_associated_SNPs_118823 4 other not provided RCV000299521.1
3875 chr11 6415502 6415502 1 + C T rs147258619 6415501 + 6415481 6415521 41 CTGGACCATGAGACCTACATCCTGAATCTGACCCAGGCAAA CTGGACCATGAGACCTACATCTTGAATCTGACCCAGGCAAA < 41bp 0.476035520848778 0.721701671221466 0.2341063 0.20314682 prediction 0.443403342442932 Functional Gain - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6415501 chr11:6415502 synonymous SNV . 0 22 hm5C_associated_SNPs_118886 1 Benign not specified RCV000398280.1
3875 chr6 39872205 39872205 1 + G C rs73414848 39872209 - 39872189 39872229 41 AAGAAAGCAAGACCAAGAAACAACCTATTAAGGACCAGCTC AAGAAAGCAAGACCAAGAAACAACGTATTAAGGACCAGCTC < 41bp 0.476854323783262 0.721684102553059 0.15032387 0.17229974 prediction 0.443368205106117 Functional Gain - DAAM2;MOCS1 ENSG00000124615;ENSG00000146122 UTR3 Human other chr6:39872209 chr6:39872205 . . 0 25 hm5C_associated_SNPs_118897 1 Likely benign Molybdenum cofactor deficiency RCV000384005.1
3875 chr1 119964831 119964831 1 + T C rs35887327 119964829 + 119964809 119964849 41 GCCTGGGCCCACATTCTGGCCTTGAGGGCTCTGCGGGACCC GCCTGGGCCCACATTCTGGCCTCGAGGGCTCTGCGGGACCC < 41bp 0.603826320421522 0.825456773276096 0.08529422 0.68072206 prediction 0.443260905709147 Functional Gain - HSD3B2 ENSG00000203859 CDS Human protein_coding chr1:119964829 chr1:119964831 nonsynonymous SNV 0.721 1 23 hm5C_associated_SNPs_118919 1 Uncertain significance Congenital adrenal hyperplasia RCV000030039.1
3875 chr2 1440078 1440078 1 + C A rs61758083 1440074 + 1440054 1440094 41 TTGCAAACATGTCTGGATGTCTCCCTTACATGCTGCCCCCA TTGCAAACATGTCTGGATGTCTCCATTACATGCTGCCCCCA < 41bp 0.290398094509104 0.721578017927405 0.18014768 0.9710199 prediction 0.44315603585481 Functional Gain - TPO ENSG00000115705 CDS Human protein_coding chr2:1440074 chr2:1440078 nonsynonymous SNV 0.004 3 25 hm5C_associated_SNPs_118944 1 Uncertain significance Congenital hypothyroidism RCV000334710.1
3875 chr2 113820580 113820580 1 + C A rs2515402 113820579 + 113820559 113820599 41 TCCTGCTTAATGGTAACTGACCAGTGTTACCCTGAGCCCCG TCCTGCTTAATGGTAACTGACAAGTGTTACCCTGAGCCCCG < 41bp 0.464772191531519 0.721448488343803 0.38977608 0.86515856 prediction 0.442896976687607 Functional Gain - IL36RN ENSG00000136695 UTR3 Human protein_coding chr2:113820579 chr2:113820580 . . 0 22 hm5C_associated_SNPs_119000 1 Benign Pustular psoriasis, generalized RCV000323693.1
3875 chr19 11559801 11559801 1 + T C rs139144555 11559799 + 11559779 11559819 41 TCGGGGGCTCTCCCACCAGCCTTGGGTGAGTGGCTTGGGCT TCGGGGGCTCTCCCACCAGCCTCGGGTGAGTGGCTTGGGCT < 41bp 0.609660588180955 0.831088834346242 0.4518703 0.6533258 prediction 0.442856492330573 Functional Gain - PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11559799 chr19:11559801 synonymous SNV . 0 23 hm5C_associated_SNPs_119010 2 Benign not specified RCV000242681.1
3875 chr19 11559801 11559801 1 + T C rs139144555 11559799 + 11559779 11559819 41 TCGGGGGCTCTCCCACCAGCCTTGGGTGAGTGGCTTGGGCT TCGGGGGCTCTCCCACCAGCCTCGGGTGAGTGGCTTGGGCT < 41bp 0.609660588180955 0.831088834346242 0.4518703 0.6533258 prediction 0.442856492330573 Functional Gain - PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11559799 chr19:11559801 synonymous SNV . 0 23 hm5C_associated_SNPs_119010 2 Likely benign Polycystic liver disease RCV000368281.1
3875 chr5 14713753 14713753 1 + C T STAD 14713752 + 14713732 14713772 41 TCTTCAGTGTCATCAGCCACCCGGTGAGATGCGCCCTCACT TCTTCAGTGTCATCAGCCACCTGGTGAGATGCGCCCTCACT < 41bp 0.525289242445205 0.746305675702624 0.45131975 0.2651683 prediction 0.442032866514839 Functional Gain - ANKH ENSG00000154122 CDS Human protein_coding chr5:14713752 chr5:14713753 nonsynonymous SNV 0.984 3 22 hm5C_associated_SNPs_119203 2 Pathogenic Craniometaphyseal dysplasia, autosomal dominant RCV000005502.2
3875 chr5 14713753 14713753 1 + C T STAD 14713752 + 14713732 14713772 41 TCTTCAGTGTCATCAGCCACCCGGTGAGATGCGCCCTCACT TCTTCAGTGTCATCAGCCACCTGGTGAGATGCGCCCTCACT < 41bp 0.525289242445205 0.746305675702624 0.45131975 0.2651683 prediction 0.442032866514839 Functional Gain - ANKH ENSG00000154122 CDS Human protein_coding chr5:14713752 chr5:14713753 nonsynonymous SNV 0.984 3 22 hm5C_associated_SNPs_119203 2 Pathogenic Chondrocalcinosis 2 RCV000032998.2
3875 chr11 34979119 34979119 1 + C T rs76486106 34979118 + 34979098 34979138 41 TGTCAAGAAGGAACACATACCCGGGACACTACGGTGAGTAT TGTCAAGAAGGAACACATACCTGGGACACTACGGTGAGTAT < 41bp 0.489610600752778 0.72099860203065 0.8880584 0.66712314 prediction 0.4419972040613 Functional Gain - PDHX ENSG00000110435 CDS Human protein_coding chr11:34979118 chr11:34979119 synonymous SNV . 0 22 hm5C_associated_SNPs_119211 2 Benign not specified RCV000127414.1
3875 chr11 34979119 34979119 1 + C T rs76486106 34979118 + 34979098 34979138 41 TGTCAAGAAGGAACACATACCCGGGACACTACGGTGAGTAT TGTCAAGAAGGAACACATACCTGGGACACTACGGTGAGTAT < 41bp 0.489610600752778 0.72099860203065 0.8880584 0.66712314 prediction 0.4419972040613 Functional Gain - PDHX ENSG00000110435 CDS Human protein_coding chr11:34979118 chr11:34979119 synonymous SNV . 0 22 hm5C_associated_SNPs_119211 2 Likely benign Pyruvate dehydrogenase complex deficiency RCV000276511.1
3875 chr19 11098454 11098454 1 + C T UCEC 11098453 + 11098433 11098473 41 CGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCC CGTCCCACCCGCCGCCTCGCCTGTGATGCCACCGCAGACCC < 41bp 0.494324479659618 0.720822855742857 0.22846708 0.07425669 prediction 0.441645711485713 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11098453 chr19:11098454 synonymous SNV . 0 22 hm5C_associated_SNPs_119302 1 Likely benign Rhabdoid tumor predisposition syndrome 2 RCV000228437.2
3875 chr12 12870877 12870877 1 + C T SKCM 12870876 + 12870856 12870896 41 CCTGCAGGAACCTCTTCGGCCCGGTGGACCACGAAGAGTTA CCTGCAGGAACCTCTTCGGCCTGGTGGACCACGAAGAGTTA < 41bp 0.528340064156729 0.74915623291257 0.8973213 0.51615554 prediction 0.441632337511682 Functional Gain - CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870876 chr12:12870877 nonsynonymous SNV 0.997 5 22 hm5C_associated_SNPs_119306 1 Uncertain significance Multiple endocrine neoplasia, type 4 RCV000469778.1
3875 chr20 19955664 19955664 1 + C A rs180981486 19955660 + 19955640 19955680 41 GGCTGGCCAGGACTGAAACCCAGACGAGCATGCCAGAAACA GGCTGGCCAGGACTGAAACCCAGAAGAGCATGCCAGAAACA < 41bp 0.302526304785168 0.72078966974368 0.8564191 0.88728774 prediction 0.44157933948736 Functional Gain - RIN2 ENSG00000132669 CDS Human protein_coding chr20:19955660 chr20:19955664 nonsynonymous SNV 0.999 0 25 hm5C_associated_SNPs_119316 1 Uncertain significance not specified RCV000489949.1
3875 chr17 78176044 78176044 1 + C T rs117918077 78176043 + 78176023 78176063 41 TCGGGGGACTCATTCTACATCCGGGTCAACCTGGCCATGGA TCGGGGGACTCATTCTACATCTGGGTCAACCTGGCCATGGA < 41bp 0.57583815388874 0.796519533436511 0.8813126 0.28916574 prediction 0.441362759095542 Functional Gain - CARD14 ENSG00000141527 CDS Human protein_coding chr17:78176043 chr17:78176044 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_119366 1 not provided not provided RCV000059695.1
3875 chr20 30411335 30411335 1 + C T STAD 30411334 + 30411314 30411354 41 CCGCATGGTGGAGCTGAGGACCGGGAATGTCAGCAGTGAAT CCGCATGGTGGAGCTGAGGACTGGGAATGTCAGCAGTGAAT < 41bp 0.563953384102047 0.784554702409884 0.27457315 0.15781477 prediction 0.441202636615673 Functional Gain - MYLK2 ENSG00000101306 CDS Human protein_coding chr20:30411334 chr20:30411335 synonymous SNV . 0 22 hm5C_associated_SNPs_119404 1 Likely benign Familial hypertrophic cardiomyopathy 1 RCV000465056.1
3875 chr22 24919646 24919646 1 + C A rs113975342 24919645 + 24919625 24919665 41 GTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTCCCG GTGGCAGCCCCTGACAGCAGCAGGACTCCTGGGCTGTCCCG < 41bp 0.607400313252935 0.827973259123961 0.78841877 0.9071748 prediction 0.441145891742053 Functional Gain - UPB1 ENSG00000100024 CDS Human protein_coding chr22:24919645 chr22:24919646 synonymous SNV . 0 22 hm5C_associated_SNPs_119412 2 not provided not provided RCV000086548.1
3875 chr22 24919646 24919646 1 + C A rs113975342 24919645 + 24919625 24919665 41 GTGGCAGCCCCTGACAGCAGCCGGACTCCTGGGCTGTCCCG GTGGCAGCCCCTGACAGCAGCAGGACTCCTGGGCTGTCCCG < 41bp 0.607400313252935 0.827973259123961 0.78841877 0.9071748 prediction 0.441145891742053 Functional Gain - UPB1 ENSG00000100024 CDS Human protein_coding chr22:24919645 chr22:24919646 synonymous SNV . 0 22 hm5C_associated_SNPs_119412 2 Uncertain significance Deficiency of beta-ureidopropionase RCV000382705.1
3875 chr6 50813551 50813551 1 + C G rs187079439 50813550 + 50813530 50813570 41 ATCAGCCGCTGGAGGGGCTGCCGACTGCGCGGGCCCTTCCC ATCAGCCGCTGGAGGGGCTGCGGACTGCGCGGGCCCTTCCC < 41bp 0.427760012673275 0.72054203469357 0.32451463 0.90467227 prediction 0.441084069387141 Functional Gain - TFAP2B ENSG00000008196 UTR3 Human protein_coding chr6:50813550 chr6:50813551 . . 0 22 hm5C_associated_SNPs_119425 1 Likely benign Char syndrome RCV000311871.1
3875 chr12 121437221 121437221 1 + T C rs1169304 121437219 + 121437199 121437239 41 TCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCC TCCAGGCCTGCTGGCCCTCCCTCGGCCTGTGACAGAGCCCC < 41bp 0.590440488486016 0.810865848431127 0.091064095 0.23639876 prediction 0.440850719890223 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121437219 chr12:121437221 nonsynonymous SNV 0.000 2 23 hm5C_associated_SNPs_119490 1 not provided not specified RCV000122364.1
3875 chr9 133884560 133884560 1 + C G rs112101828 133884559 + 133884539 133884579 41 GCGGTCCGCGCCCACCCTAGCCGAGCGGGGCCGGCAGAGCG GCGGTCCGCGCCCACCCTAGCGGAGCGGGGCCGGCAGAGCG < 41bp 0.60520969457006 0.825556055895386 0.5888294 0.9100824 prediction 0.440692722650653 Functional Gain - LAMC3 ENSG00000050555 UTR5 Human protein_coding chr9:133884559 chr9:133884560 . . 0 22 hm5C_associated_SNPs_119527 1 Benign not specified RCV000126554.1
3875 chr19 11132437 11132437 1 + C T CESC 11132436 + 11132416 11132456 41 ATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTG ATGATTGTGGACGAAGGTCACTGCATGAAGAACCACCACTG < 41bp 0.583878288315934 0.804170805162274 0.81498325 0.7868633 prediction 0.440585033692682 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11132436 chr19:11132437 nonsynonymous SNV 0.997 5 22 hm5C_associated_SNPs_119550 2 Pathogenic Mental retardation, autosomal dominant 16 RCV000023286.4
3875 chr19 11132437 11132437 1 + C T CESC 11132436 + 11132416 11132456 41 ATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTG ATGATTGTGGACGAAGGTCACTGCATGAAGAACCACCACTG < 41bp 0.583878288315934 0.804170805162274 0.81498325 0.7868633 prediction 0.440585033692682 Functional Gain - SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11132436 chr19:11132437 nonsynonymous SNV 0.997 5 22 hm5C_associated_SNPs_119550 2 Pathogenic not provided RCV000059685.2
3875 chr5 131705723 131705723 1 + T A rs144020613 131705719 + 131705699 131705739 41 GCGAGTGGGGGCCCTTCCAGCGCCTCATCTTCTTCCTGCTC GCGAGTGGGGGCCCTTCCAGCGCCACATCTTCTTCCTGCTC < 41bp 0.676014821098031 0.896204303369725 0.24072039 0.15945515 prediction 0.440378964543388 Functional Gain - SLC22A5 ENSG00000197375 CDS Human protein_coding chr5:131705719 chr5:131705723 nonsynonymous SNV 1.000 2 25 hm5C_associated_SNPs_119590 1 not provided Renal carnitine transport defect RCV000022299.2
3875 chr11 124745939 124745939 1 + C G rs555231962 124745938 + 124745918 124745958 41 AATGCTCCGAGGACTGGTGCCCGGTCTCCTCTATCGAACCC AATGCTCCGAGGACTGGTGCCGGGTCTCCTCTATCGAACCC < 41bp 0.390197741983221 0.720175493730953 0.050796837 0.35194743 prediction 0.440350987461905 Functional Gain - ROBO3 ENSG00000154134 CDS Human protein_coding chr11:124745938 chr11:124745939 synonymous SNV . 0 22 hm5C_associated_SNPs_119594 1 Uncertain significance Gaze palsy, familial horizontal, with progressive scoliosis RCV000345363.1
3875 chr2 189860859 189860859 1 + C T UCEC 189860858 + 189860838 189860878 41 TTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAG TTCTTTACTTCAGGGCATGCCTGGAAGTCCAGGAGGACCAG < 41bp 0.474828548512741 0.720136163633193 0.9018619 0.8802954 prediction 0.440272327266386 Functional Gain - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189860858 chr2:189860859 synonymous SNV . 0 22 hm5C_associated_SNPs_119608 2 Likely benign not specified RCV000434363.1
3875 chr2 189860859 189860859 1 + C T UCEC 189860858 + 189860838 189860878 41 TTCTTTACTTCAGGGCATGCCCGGAAGTCCAGGAGGACCAG TTCTTTACTTCAGGGCATGCCTGGAAGTCCAGGAGGACCAG < 41bp 0.474828548512741 0.720136163633193 0.9018619 0.8802954 prediction 0.440272327266386 Functional Gain - COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189860858 chr2:189860859 synonymous SNV . 0 22 hm5C_associated_SNPs_119608 2 Likely benign Ehlers-Danlos syndrome, type 4 RCV000460934.1
3875 chr17 7579317 7579317 1 + A C COAD 7579319 - 7579299 7579339 41 TGGGACAGCCAAGTCTGTGACTTGCACGGTCAGTTGCCCTG TGGGACAGCCAAGTCTGTGACTGGCACGGTCAGTTGCCCTG < 41bp 0.404475682532742 0.719982315864623 0.1779784 0.3388906 prediction 0.439964631729245 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579319 chr17:7579317 nonsynonymous SNV 0.893 4 23 hm5C_associated_SNPs_119677 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000217878.1
3875 chr6 52303291 52303291 1 + C G rs3804506 52303290 + 52303270 52303310 41 CAGCGGCTAGCCAAGAATGACCGGGGTGACCATTACCATTG CAGCGGCTAGCCAAGAATGACGGGGGTGACCATTACCATTG < 41bp 0.663320048856601 0.883121271137609 0.91024613 0.92893755 prediction 0.439602444562016 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52303290 chr6:52303291 nonsynonymous SNV 0.975 0 22 hm5C_associated_SNPs_119757 4 Benign not specified RCV000177299.3
3875 chr6 52303291 52303291 1 + C G rs3804506 52303290 + 52303270 52303310 41 CAGCGGCTAGCCAAGAATGACCGGGGTGACCATTACCATTG CAGCGGCTAGCCAAGAATGACGGGGGTGACCATTACCATTG < 41bp 0.663320048856601 0.883121271137609 0.91024613 0.92893755 prediction 0.439602444562016 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52303290 chr6:52303291 nonsynonymous SNV 0.975 0 22 hm5C_associated_SNPs_119757 4 Likely benign not provided RCV000438446.1
3875 chr6 52303291 52303291 1 + C G rs3804506 52303290 + 52303270 52303310 41 CAGCGGCTAGCCAAGAATGACCGGGGTGACCATTACCATTG CAGCGGCTAGCCAAGAATGACGGGGGTGACCATTACCATTG < 41bp 0.663320048856601 0.883121271137609 0.91024613 0.92893755 prediction 0.439602444562016 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52303290 chr6:52303291 nonsynonymous SNV 0.975 0 22 hm5C_associated_SNPs_119757 4 Benign Epilepsy juvenile absence RCV000474225.1
3875 chr6 52303291 52303291 1 + C G rs3804506 52303290 + 52303270 52303310 41 CAGCGGCTAGCCAAGAATGACCGGGGTGACCATTACCATTG CAGCGGCTAGCCAAGAATGACGGGGGTGACCATTACCATTG < 41bp 0.663320048856601 0.883121271137609 0.91024613 0.92893755 prediction 0.439602444562016 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52303290 chr6:52303291 nonsynonymous SNV 0.975 0 22 hm5C_associated_SNPs_119757 4 Benign Juvenile myoclonic epilepsy RCV000474225.1
3875 chr9 133932442 133932442 1 + C T ESCA 133932441 + 133932421 133932461 41 AGTTCTGTGAATCCTGTGCTCCGGGATACAAGAGGGAGATG AGTTCTGTGAATCCTGTGCTCTGGGATACAAGAGGGAGATG < 41bp 0.549673638544076 0.769204033091841 0.8907293 0.7385221 prediction 0.43906078909553 Functional Gain - LAMC3 ENSG00000050555 CDS Human protein_coding chr9:133932441 chr9:133932442 nonsynonymous SNV 0.980 0 22 hm5C_associated_SNPs_119895 1 Uncertain significance not specified RCV000174351.1
3875 chr6 33411299 33411299 1 + C T rs61421477 33411298 + 33411278 33411318 41 CAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCCCTG CAAGAGTGAGGACCTCTCTTCTGGGGTCCCCAAGCCCCCTG < 41bp 0.567241798176197 0.786607332135481 0.959617 0.9425372 prediction 0.438731067918568 Functional Gain - SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33411298 chr6:33411299 synonymous SNV . 0 22 hm5C_associated_SNPs_119965 2 Likely benign not specified RCV000118569.2
3875 chr6 33411299 33411299 1 + C T rs61421477 33411298 + 33411278 33411318 41 CAAGAGTGAGGACCTCTCTTCCGGGGTCCCCAAGCCCCCTG CAAGAGTGAGGACCTCTCTTCTGGGGTCCCCAAGCCCCCTG < 41bp 0.567241798176197 0.786607332135481 0.959617 0.9425372 prediction 0.438731067918568 Functional Gain - SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33411298 chr6:33411299 synonymous SNV . 0 22 hm5C_associated_SNPs_119965 2 Benign Mental retardation, autosomal dominant 5 RCV000457461.1
3875 chr7 33945201 33945201 1 + C A rs75295552 33945197 + 33945177 33945217 41 AGGCGGCGGCGCGGGACCTGCAGTCGCCAGGGATTCCCTCC AGGCGGCGGCGCGGGACCTGCAGTAGCCAGGGATTCCCTCC < 41bp 0.619472860272258 0.838754941272592 0.8403363 0.7568335 prediction 0.438564162000669 Functional Gain - BMPER ENSG00000164619 UTR5 Human protein_coding chr7:33945197 chr7:33945201 . . 0 25 hm5C_associated_SNPs_120020 1 Likely benign Diaphanospondylodysostosis RCV000341542.1
3875 chr2 44102364 44102364 1 + C T rs558635043 44102363 + 44102343 44102383 41 ACTGGCTGGCCAACCTGAGGCCAGGCCTCCAGCCCTTCCTG ACTGGCTGGCCAACCTGAGGCTAGGCCTCCAGCCCTTCCTG < 41bp 0.555362646336846 0.774625956899229 0.30809474 0.18376204 prediction 0.438526621124767 Functional Gain - ABCG8 ENSG00000143921 CDS Human protein_coding chr2:44102363 chr2:44102364 nonsynonymous SNV 0.049 1 22 hm5C_associated_SNPs_120032 1 Uncertain significance Sitosterolemia RCV000357070.1
3875 chr22 18572510 18572510 1 + C G rs112015789 18572509 + 18572489 18572529 41 TGAGATGGAGTCTCTGTCACCCAGGCTGGAGTGCAGTGGCG TGAGATGGAGTCTCTGTCACCGAGGCTGGAGTGCAGTGGCG < 41bp 0.431173579930754 0.719256741684908 0.27641946 0.87180597 prediction 0.438513483369816 Functional Gain - PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572509 chr22:18572510 . . 0 22 hm5C_associated_SNPs_120034 1 Likely benign Zellweger syndrome RCV000354949.1
3875 chrX 56591767 56591767 1 + C A rs45559331 56591766 + 56591746 56591786 41 GGGGGTGGGGGTGCTGGGAACCGCTATAGGCCCTGTAGGCC GGGGGTGGGGGTGCTGGGAACAGCTATAGGCCCTGTAGGCC < 41bp 0.592240307432568 0.811493539877462 0.31451803 0.2535916 prediction 0.438506464889788 Functional Gain - UBQLN2 ENSG00000188021 CDS Human protein_coding chrX:56591766 chrX:56591767 synonymous SNV . 0 22 hm5C_associated_SNPs_120036 2 Benign not specified RCV000241665.1
3875 chrX 56591767 56591767 1 + C A rs45559331 56591766 + 56591746 56591786 41 GGGGGTGGGGGTGCTGGGAACCGCTATAGGCCCTGTAGGCC GGGGGTGGGGGTGCTGGGAACAGCTATAGGCCCTGTAGGCC < 41bp 0.592240307432568 0.811493539877462 0.31451803 0.2535916 prediction 0.438506464889788 Functional Gain - UBQLN2 ENSG00000188021 CDS Human protein_coding chrX:56591766 chrX:56591767 synonymous SNV . 0 22 hm5C_associated_SNPs_120036 2 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000399814.1
3875 chr2 149247143 149247143 1 + T A rs115816749 149247139 + 149247119 149247159 41 TGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATG TGGCCTCGTTGTGGGTGGCCCAGGAGATGCTTCCGTAGATG < 41bp 0.40941334789448 0.719129408187355 0.8839556 0.81010604 prediction 0.438258816374711 Functional Gain - MBD5 ENSG00000204406 CDS Human protein_coding chr2:149247139 chr2:149247143 synonymous SNV . 0 25 hm5C_associated_SNPs_120089 2 Benign not specified RCV000126696.3
3875 chr2 149247143 149247143 1 + T A rs115816749 149247139 + 149247119 149247159 41 TGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATG TGGCCTCGTTGTGGGTGGCCCAGGAGATGCTTCCGTAGATG < 41bp 0.40941334789448 0.719129408187355 0.8839556 0.81010604 prediction 0.438258816374711 Functional Gain - MBD5 ENSG00000204406 CDS Human protein_coding chr2:149247139 chr2:149247143 synonymous SNV . 0 25 hm5C_associated_SNPs_120089 2 Benign Mental retardation, autosomal dominant 1 RCV000456339.1
3875 chr15 65943251 65943251 1 + T C rs146253044 65943248 + 65943228 65943268 41 TTCTGCCCATCGTGTTCCCACTGTGGCTGACAGTCCCCGAC TTCTGCCCATCGTGTTCCCACTGCGGCTGACAGTCCCCGAC < 41bp 0.5149838895394 0.73409224868677 0.11363831 0.1778008 prediction 0.43821671829474 Functional Gain - SLC24A1 ENSG00000074621 CDS Human protein_coding chr15:65943248 chr15:65943251 nonsynonymous SNV 0.981 2 24 hm5C_associated_SNPs_120097 1 Likely benign not specified RCV000407299.1
3875 chr2 11052800 11052800 1 + C T STAD 11052799 + 11052779 11052819 41 AGTTCTACTTTGACAGGGACCCGGACGCCTTCAAGTGTGTC AGTTCTACTTTGACAGGGACCTGGACGCCTTCAAGTGTGTC < 41bp 0.526040833582789 0.745123605772834 0.42502528 0.3034864 prediction 0.43816554438009 Functional Gain - KCNF1 ENSG00000162975 CDS Human protein_coding chr2:11052799 chr2:11052800 nonsynonymous SNV 0.998 5 22 hm5C_associated_SNPs_120106 1 Uncertain significance Malignant tumor of prostate RCV000149127.1
3875 chr14 68195937 68195937 1 + C G LIHC 68195936 + 68195916 68195956 41 GTCACCACCTACGCAGTGCACCCAGGCGTCGTCCGCTCTGA GTCACCACCTACGCAGTGCACGCAGGCGTCGTCCGCTCTGA < 41bp 0.671848257413706 0.890818260002386 0.06849432 0.2443386 prediction 0.43794000517736 Functional Gain - RDH12 ENSG00000139988 CDS Human protein_coding chr14:68195936 chr14:68195937 nonsynonymous SNV 0.436 5 22 hm5C_associated_SNPs_120168 1 Pathogenic Leber congenital amaurosis 13 RCV000002134.3
3875 chr4 4862084 4862084 1 + C A rs104893854 4862083 + 4862063 4862103 41 TGCAGAGCCCCCGCTTCTCCCCGCCGCCGGCCAGTGAGTAG TGCAGAGCCCCCGCTTCTCCCAGCCGCCGGCCAGTGAGTAG < 41bp 0.465433811779995 0.718962206755972 0.16248277 0.28197098 prediction 0.437924413511944 Functional Gain - MSX1 ENSG00000163132 CDS Human protein_coding chr4:4862083 chr4:4862084 nonsynonymous SNV 1.000 3 22 hm5C_associated_SNPs_120174 1 Pathogenic Orofacial cleft 5 RCV000016014.22
3875 chr19 47258842 47258842 1 + C T rs2287717 47258841 + 47258821 47258861 41 GCCCCGTCGTGCCTCTGCTGCCGGCCCCCGTGTCACCGTCC GCCCCGTCGTGCCTCTGCTGCTGGCCCCCGTGTCACCGTCC < 41bp 0.508620757194596 0.727582146126314 0.17264298 0.2438915 prediction 0.437922777863436 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258841 chr19:47258842 synonymous SNV . 0 22 hm5C_associated_SNPs_120177 1 other not specified RCV000082171.10
3875 chr11 6414910 6414910 1 + C T UCEC 6414909 + 6414889 6414929 41 AGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGA AGCTGGAGCTGGAATTATTACTGAATTGTAGCCAGGTAGGA < 41bp 0.575184712814704 0.79393100638847 0.10761553 0.10545635 prediction 0.437492587147533 Functional Gain - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6414909 chr11:6414910 stopgain 0.943 0 22 hm5C_associated_SNPs_120272 3 Pathogenic Niemann-Pick disease, type B RCV000003127.2
3875 chr11 6414910 6414910 1 + C T UCEC 6414909 + 6414889 6414929 41 AGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGA AGCTGGAGCTGGAATTATTACTGAATTGTAGCCAGGTAGGA < 41bp 0.575184712814704 0.79393100638847 0.10761553 0.10545635 prediction 0.437492587147533 Functional Gain - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6414909 chr11:6414910 stopgain 0.943 0 22 hm5C_associated_SNPs_120272 3 Pathogenic Niemann-Pick disease, type A RCV000193674.1
3875 chr11 6414910 6414910 1 + C T UCEC 6414909 + 6414889 6414929 41 AGCTGGAGCTGGAATTATTACCGAATTGTAGCCAGGTAGGA AGCTGGAGCTGGAATTATTACTGAATTGTAGCCAGGTAGGA < 41bp 0.575184712814704 0.79393100638847 0.10761553 0.10545635 prediction 0.437492587147533 Functional Gain - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6414909 chr11:6414910 stopgain 0.943 0 22 hm5C_associated_SNPs_120272 3 Pathogenic not provided RCV000372224.1
3875 chr11 128781254 128781254 1 + C A LUAD 128781250 + 128781230 128781270 41 ACCCCAAGAAGATTCCAAAACAGGCCCGCGATTATGTCCCC ACCCCAAGAAGATTCCAAAACAGGACCGCGATTATGTCCCC < 41bp 0.718965706104254 0.937476363629117 0.12888336 0.16694355 prediction 0.437021315049725 Functional Gain - KCNJ5 ENSG00000120457 CDS Human protein_coding chr11:128781250 chr11:128781254 nonsynonymous SNV 0.989 3 25 hm5C_associated_SNPs_120384 1 Uncertain significance Long QT syndrome RCV000199204.1
3875 chr10 121432031 121432031 1 + C T rs117671123 121432030 + 121432010 121432050 41 CAGGGGGATGACTGGGAGCCCCGGCCCCTGCGGGCGGCATC CAGGGGGATGACTGGGAGCCCTGGCCCCTGCGGGCGGCATC < 41bp 0.477301132207446 0.718271535893601 0.9028703 0.89586806 prediction 0.436543071787201 Functional Gain - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121432030 chr10:121432031 nonsynonymous SNV 0.922 3 22 hm5C_associated_SNPs_120494 6 Uncertain significance Myofibrillar myopathy RCV000032662.2
3875 chr10 121432031 121432031 1 + C T rs117671123 121432030 + 121432010 121432050 41 CAGGGGGATGACTGGGAGCCCCGGCCCCTGCGGGCGGCATC CAGGGGGATGACTGGGAGCCCTGGCCCCTGCGGGCGGCATC < 41bp 0.477301132207446 0.718271535893601 0.9028703 0.89586806 prediction 0.436543071787201 Functional Gain - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121432030 chr10:121432031 nonsynonymous SNV 0.922 3 22 hm5C_associated_SNPs_120494 6 Benign not specified RCV000037897.5
3875 chr10 121432031 121432031 1 + C T rs117671123 121432030 + 121432010 121432050 41 CAGGGGGATGACTGGGAGCCCCGGCCCCTGCGGGCGGCATC CAGGGGGATGACTGGGAGCCCTGGCCCCTGCGGGCGGCATC < 41bp 0.477301132207446 0.718271535893601 0.9028703 0.89586806 prediction 0.436543071787201 Functional Gain - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121432030 chr10:121432031 nonsynonymous SNV 0.922 3 22 hm5C_associated_SNPs_120494 6 Benign Dilated cardiomyopathy 1HH RCV000233039.2
3875 chr10 121432031 121432031 1 + C T rs117671123 121432030 + 121432010 121432050 41 CAGGGGGATGACTGGGAGCCCCGGCCCCTGCGGGCGGCATC CAGGGGGATGACTGGGAGCCCTGGCCCCTGCGGGCGGCATC < 41bp 0.477301132207446 0.718271535893601 0.9028703 0.89586806 prediction 0.436543071787201 Functional Gain - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121432030 chr10:121432031 nonsynonymous SNV 0.922 3 22 hm5C_associated_SNPs_120494 6 Benign Myofibrillar myopathy, BAG3-related RCV000233039.2
3875 chr10 121432031 121432031 1 + C T rs117671123 121432030 + 121432010 121432050 41 CAGGGGGATGACTGGGAGCCCCGGCCCCTGCGGGCGGCATC CAGGGGGATGACTGGGAGCCCTGGCCCCTGCGGGCGGCATC < 41bp 0.477301132207446 0.718271535893601 0.9028703 0.89586806 prediction 0.436543071787201 Functional Gain - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121432030 chr10:121432031 nonsynonymous SNV 0.922 3 22 hm5C_associated_SNPs_120494 6 Likely benign Myofibrillar Myopathy, Dominant RCV000354158.1
3875 chr10 121432031 121432031 1 + C T rs117671123 121432030 + 121432010 121432050 41 CAGGGGGATGACTGGGAGCCCCGGCCCCTGCGGGCGGCATC CAGGGGGATGACTGGGAGCCCTGGCCCCTGCGGGCGGCATC < 41bp 0.477301132207446 0.718271535893601 0.9028703 0.89586806 prediction 0.436543071787201 Functional Gain - BAG3 ENSG00000151929 CDS Human protein_coding chr10:121432030 chr10:121432031 nonsynonymous SNV 0.922 3 22 hm5C_associated_SNPs_120494 6 Benign Myofibrillar myopathy, BAG3-related RCV000490529.1
3875 chr19 54696060 54696060 1 + C T rs200626822 54696059 + 54696039 54696079 41 TGGCCACTGCCAGGCCTCGACCGGTCAAGGCCAGGCCCCTG TGGCCACTGCCAGGCCTCGACTGGTCAAGGCCAGGCCCCTG < 41bp 0.582699834168435 0.800936586932914 0.17587751 0.09972748 prediction 0.436473505528958 Functional Gain - TSEN34 ENSG00000170892 CDS Human protein_coding chr19:54696059 chr19:54696060 nonsynonymous SNV 0.975 0 22 hm5C_associated_SNPs_120515 1 Uncertain significance not specified RCV000192577.1
3875 chr21 47423636 47423636 1 + C T rs1053320 47423635 + 47423615 47423655 41 CTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGC CTTCTACCGCGAGGCCTCGTCTGGCGCTGCCAAGAAGAGGC < 41bp 0.485913831246687 0.718136590212523 0.90977657 0.8511156 prediction 0.436273180425046 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423635 chr21:47423636 synonymous SNV . 0 22 hm5C_associated_SNPs_120559 2 Benign not specified RCV000079807.7
3875 chr21 47423636 47423636 1 + C T rs1053320 47423635 + 47423615 47423655 41 CTTCTACCGCGAGGCCTCGTCCGGCGCTGCCAAGAAGAGGC CTTCTACCGCGAGGCCTCGTCTGGCGCTGCCAAGAAGAGGC < 41bp 0.485913831246687 0.718136590212523 0.90977657 0.8511156 prediction 0.436273180425046 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423635 chr21:47423636 synonymous SNV . 0 22 hm5C_associated_SNPs_120559 2 Benign Collagen VI-related myopathy RCV000374356.1
3875 chr21 47418338 47418338 1 + C T rs143755280 47418337 + 47418317 47418357 41 TCCGGGCAACAGGGGCGCTCCCGGGATAAACGTGAGTACGC TCCGGGCAACAGGGGCGCTCCTGGGATAAACGTGAGTACGC < 41bp 0.553255572157342 0.771228785044111 0.9101526 0.8822943 prediction 0.435946425773537 Functional Gain - COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47418337 chr21:47418338 synonymous SNV . 0 22 hm5C_associated_SNPs_120637 1 Uncertain significance not specified RCV000362676.1
3875 chr12 65563754 65563754 1 + C T rs61736593 65563753 + 65563733 65563773 41 GGGAGGGCCCGGGGGCGCCTCCGCCGCCCCCGCGGCTGGCA GGGAGGGCCCGGGGGCGCCTCTGCCGCCCCCGCGGCTGGCA < 41bp 0.537292246909632 0.755226718033425 0.80827785 0.82140684 prediction 0.435868942247586 Functional Gain - LEMD3 ENSG00000174106 CDS Human protein_coding chr12:65563753 chr12:65563754 synonymous SNV . 0 22 hm5C_associated_SNPs_120662 1 Likely benign Dermatofibrosis lenticularis disseminata RCV000319267.1
3875 chr1 236908039 236908039 1 + C T COAD 236908038 + 236908018 236908058 41 GACCTGGCAGCGCACCAGGACCGCGTGGAGCAGATCGCAGC GACCTGGCAGCGCACCAGGACTGCGTGGAGCAGATCGCAGC < 41bp 0.452403659185006 0.717684603898155 0.27090707 0.32177007 prediction 0.43536920779631 Functional Gain - ACTN2 ENSG00000077522 CDS Human protein_coding chr1:236908038 chr1:236908039 nonsynonymous SNV 0.997 3 22 hm5C_associated_SNPs_120780 1 Uncertain significance Familial hypertrophic cardiomyopathy 1 RCV000201923.1
3875 chrX 68058492 68058492 1 + C T UCEC 68058491 + 68058471 68058511 41 GGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTG GGAAGGGCTTGGTGATCTATCTGAAAATTGGAGACAAGCTG < 41bp 0.576040061303522 0.793678123419304 0.3320901 0.118323475 prediction 0.435276124231564 Functional Gain - EFNB1 ENSG00000090776 CDS Human protein_coding chrX:68058491 chrX:68058492 nonsynonymous SNV 0.991 5 22 hm5C_associated_SNPs_120813 2 Pathogenic Craniofrontonasal dysplasia RCV000012474.14
3875 chrX 68058492 68058492 1 + C T UCEC 68058491 + 68058471 68058511 41 GGAAGGGCTTGGTGATCTATCCGAAAATTGGAGACAAGCTG GGAAGGGCTTGGTGATCTATCTGAAAATTGGAGACAAGCTG < 41bp 0.576040061303522 0.793678123419304 0.3320901 0.118323475 prediction 0.435276124231564 Functional Gain - EFNB1 ENSG00000090776 CDS Human protein_coding chrX:68058491 chrX:68058492 nonsynonymous SNV 0.991 5 22 hm5C_associated_SNPs_120813 2 Likely pathogenic not provided RCV000478350.1
3875 chrX 47070524 47070524 1 + C T rs2228658 47070523 + 47070503 47070543 41 TCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGC TCAGGACCGAGCTGCTGTGGCTACATTCCTGCAGTCTGTGC < 41bp 0.454424581340245 0.717145505712086 0.17681292 0.30201846 prediction 0.434291011424172 Functional Gain - UBA1 ENSG00000130985 CDS Human protein_coding chrX:47070523 chrX:47070524 synonymous SNV . 0 22 hm5C_associated_SNPs_121053 2 Likely benign Arthrogryposis multiplex congenita, distal, X-linked RCV000404330.1
3875 chrX 47070524 47070524 1 + C T rs2228658 47070523 + 47070503 47070543 41 TCAGGACCGAGCTGCTGTGGCCACATTCCTGCAGTCTGTGC TCAGGACCGAGCTGCTGTGGCTACATTCCTGCAGTCTGTGC < 41bp 0.454424581340245 0.717145505712086 0.17681292 0.30201846 prediction 0.434291011424172 Functional Gain - UBA1 ENSG00000130985 CDS Human protein_coding chrX:47070523 chrX:47070524 synonymous SNV . 0 22 hm5C_associated_SNPs_121053 2 Benign not specified RCV000433590.1
3875 chr3 46937356 46937356 1 + C T UCEC 46937355 + 46937335 46937375 41 GCACCCACTGGCAGCAGGTACCGAGGTACGTCTCTGCTTCC GCACCCACTGGCAGCAGGTACTGAGGTACGTCTCTGCTTCC < 41bp 0.487963639099512 0.716950355097458 0.90032023 0.7627442 prediction 0.433900710194915 Functional Gain - PTH1R ENSG00000160801 CDS Human protein_coding chr3:46937355 chr3:46937356 stopgain 0.584 0 22 hm5C_associated_SNPs_121163 1 Pathogenic Chondrodysplasia Blomstrand type RCV000014757.26
3875 chr13 39261784 39261784 1 + C A rs8002488 39261783 + 39261763 39261803 41 CCTGGTGTTGCAGGTGCAGCCCGGGGACCGCTGCGCGGTTT CCTGGTGTTGCAGGTGCAGCCAGGGGACCGCTGCGCGGTTT < 41bp 0.581728746205926 0.798662618287616 0.908125 0.9226897 prediction 0.433867744163381 Functional Gain - FREM2 ENSG00000150893 CDS Human protein_coding chr13:39261783 chr13:39261784 synonymous SNV . 0 22 hm5C_associated_SNPs_121170 2 Benign not specified RCV000173612.1
3875 chr13 39261784 39261784 1 + C A rs8002488 39261783 + 39261763 39261803 41 CCTGGTGTTGCAGGTGCAGCCCGGGGACCGCTGCGCGGTTT CCTGGTGTTGCAGGTGCAGCCAGGGGACCGCTGCGCGGTTT < 41bp 0.581728746205926 0.798662618287616 0.908125 0.9226897 prediction 0.433867744163381 Functional Gain - FREM2 ENSG00000150893 CDS Human protein_coding chr13:39261783 chr13:39261784 synonymous SNV . 0 22 hm5C_associated_SNPs_121170 2 Likely benign Cryptophthalmos syndrome RCV000295934.1
3875 chr12 100796212 100796212 1 + T C rs148882860 100796209 + 100796189 100796229 41 ATATCCAATGAGGAGAAGACCTATATAGAGACAAGCATAGG ATATCCAATGAGGAGAAGACCTACATAGAGACAAGCATAGG < 41bp 0.545923759309001 0.762808636978149 0.30152327 0.8868412 prediction 0.433769755338297 Functional Gain - SLC17A8 ENSG00000179520 CDS Human protein_coding chr12:100796209 chr12:100796212 synonymous SNV . 0 24 hm5C_associated_SNPs_121187 1 Benign not specified RCV000180002.2
3875 chr3 10191480 10191480 1 + T C KIRC 10191477 + 10191457 10191497 41 TTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCC TTTTGCCCTTCCAGTGTATACTCCGAAAGAGCGATGCCTCC < 41bp 0.529680661885424 0.746485236491738 0.07180339 0.18543783 prediction 0.433609149212629 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10191477 chr3:10191480 nonsynonymous SNV 0.995 5 24 hm5C_associated_SNPs_121238 3 Pathogenic not provided RCV000161088.2
3875 chr3 10191480 10191480 1 + T C KIRC 10191477 + 10191457 10191497 41 TTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCC TTTTGCCCTTCCAGTGTATACTCCGAAAGAGCGATGCCTCC < 41bp 0.529680661885424 0.746485236491738 0.07180339 0.18543783 prediction 0.433609149212629 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10191477 chr3:10191480 nonsynonymous SNV 0.995 5 24 hm5C_associated_SNPs_121238 3 Pathogenic Von Hippel-Lindau syndrome RCV000208846.1
3875 chr3 10191480 10191480 1 + T C KIRC 10191477 + 10191457 10191497 41 TTTTGCCCTTCCAGTGTATACTCTGAAAGAGCGATGCCTCC TTTTGCCCTTCCAGTGTATACTCCGAAAGAGCGATGCCTCC < 41bp 0.529680661885424 0.746485236491738 0.07180339 0.18543783 prediction 0.433609149212629 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10191477 chr3:10191480 nonsynonymous SNV 0.995 5 24 hm5C_associated_SNPs_121238 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000492547.1
3875 chr11 1861849 1861849 1 + C T COAD 1861848 + 1861828 1861868 41 ACTACCTGGCGGAGCACTGCCCGCCGCTGCATATCCCGGGC ACTACCTGGCGGAGCACTGCCTGCCGCTGCATATCCCGGGC < 41bp 0.472490974662173 0.716474664729266 0.119843036 0.23232836 prediction 0.432949329458533 Functional Gain - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1861848 chr11:1861849 nonsynonymous SNV 0.509 5 22 hm5C_associated_SNPs_121371 2 Uncertain significance Arthrogryposis multiplex congenita RCV000282121.1
3875 chr11 1861849 1861849 1 + C T COAD 1861848 + 1861828 1861868 41 ACTACCTGGCGGAGCACTGCCCGCCGCTGCATATCCCGGGC ACTACCTGGCGGAGCACTGCCTGCCGCTGCATATCCCGGGC < 41bp 0.472490974662173 0.716474664729266 0.119843036 0.23232836 prediction 0.432949329458533 Functional Gain - TNNI2 ENSG00000130598 CDS Human protein_coding chr11:1861848 chr11:1861849 nonsynonymous SNV 0.509 5 22 hm5C_associated_SNPs_121371 2 Uncertain significance Arthrogryposis multiplex congenita distal RCV000371974.1
3875 chr8 145584694 145584694 1 + C T rs34383175 145584693 + 145584673 145584713 41 TGAGCCTGGGCAGGTGGGGACCCCGCTCCCCAACACCTGTC TGAGCCTGGGCAGGTGGGGACTCCGCTCCCCAACACCTGTC < 41bp 0.513758515759842 0.730180208116051 0.3872046 0.6873374 prediction 0.432843384712419 Functional Gain - SLC52A2 ENSG00000185803 UTR3 Human protein_coding chr8:145584693 chr8:145584694 . . 0 22 hm5C_associated_SNPs_121396 1 Benign not specified RCV000251062.2
3875 chr9 38396528 38396528 1 + C T rs150776963 38396527 + 38396507 38396547 41 TGTTGACAAAGTTGCCTTCACCGGTTCCACCGAGGTGGGCC TGTTGACAAAGTTGCCTTCACTGGTTCCACCGAGGTGGGCC < 41bp 0.5681260156638 0.784498781618439 0.22683176 0.20667171 prediction 0.432745531909277 Functional Gain - ALDH1B1 ENSG00000137124 CDS Human protein_coding chr9:38396527 chr9:38396528 synonymous SNV . 0 22 hm5C_associated_SNPs_121428 1 Benign not specified RCV000197848.1
3875 chr11 125769895 125769895 1 + A G rs104894232 125769892 + 125769872 125769912 41 AAGCCGAAACCGGGGCAAGACAGACCGGGTAGCCCGGTATT AAGCCGAAACCGGGGCAAGACAGGCCGGGTAGCCCGGTATT < 41bp 0.571727823712839 0.787897459405533 0.2536316 0.6213379 prediction 0.432339271385388 Functional Gain - HYLS1 ENSG00000198331 CDS Human protein_coding chr11:125769892 chr11:125769895 nonsynonymous SNV 0.988 5 24 hm5C_associated_SNPs_121525 2 Pathogenic Hydrolethalus syndrome RCV000001202.2
3875 chr11 125769895 125769895 1 + A G rs104894232 125769892 + 125769872 125769912 41 AAGCCGAAACCGGGGCAAGACAGACCGGGTAGCCCGGTATT AAGCCGAAACCGGGGCAAGACAGGCCGGGTAGCCCGGTATT < 41bp 0.571727823712839 0.787897459405533 0.2536316 0.6213379 prediction 0.432339271385388 Functional Gain - HYLS1 ENSG00000198331 CDS Human protein_coding chr11:125769892 chr11:125769895 nonsynonymous SNV 0.988 5 24 hm5C_associated_SNPs_121525 2 Pathogenic Hydrolethalus syndrome 1 RCV000454127.1
3875 chr20 19955673 19955673 1 + C G rs200780805 19955672 + 19955652 19955692 41 CTGAAACCCAGACGAGCATGCCAGAAACAGTCAACCATAAC CTGAAACCCAGACGAGCATGCGAGAAACAGTCAACCATAAC < 41bp 0.390888807529663 0.716065020626029 0.36501157 0.49168825 prediction 0.432130041252059 Functional Gain - RIN2 ENSG00000132669 CDS Human protein_coding chr20:19955672 chr20:19955673 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_121582 1 Uncertain significance not specified RCV000503668.1
3875 chr10 95995780 95995780 1 + C T UCEC 95995779 + 95995759 95995799 41 AACAGCATCTTTCAGGTCATCCGGAGCTGCAATCGAAGTCT AACAGCATCTTTCAGGTCATCTGGAGCTGCAATCGAAGTCT < 41bp 0.471348880731767 0.715911764265125 0.6613496 0.78822786 prediction 0.431823528530251 Functional Gain - PLCE1 ENSG00000138193 CDS Human protein_coding chr10:95995779 chr10:95995780 nonsynonymous SNV 0.840 4 22 hm5C_associated_SNPs_121672 1 Uncertain significance Nephrotic syndrome RCV000375481.1
3875 chr19 1227892 1227892 1 + C G rs550127419 1227891 + 1227871 1227911 41 GTGGAGACTACTGGCCCCGCCCGTGGCCTCGTGCTCCGCAG GTGGAGACTACTGGCCCCGCCGGTGGCCTCGTGCTCCGCAG < 41bp 0.64952154467329 0.865309952675243 0.760304 0.45359138 prediction 0.431576816003906 Functional Gain - STK11 ENSG00000118046 UTR3 Human protein_coding chr19:1227891 chr19:1227892 . . 0 22 hm5C_associated_SNPs_121735 1 Uncertain significance Peutz-Jeghers syndrome RCV000355542.1
3875 chrX 84520143 84520143 1 + A G rs72549428 84520140 + 84520120 84520160 41 TAAGGTGGAACAGAAATTGTCACAGAGAGTGAGTACACCAG TAAGGTGGAACAGAAATTGTCACGGAGAGTGAGTACACCAG < 41bp 0.485945412817422 0.715709605819445 0.29447 0.4526391 prediction 0.43141921163889 Functional Gain - ZNF711 ENSG00000147180 CDS Human protein_coding chrX:84520140 chrX:84520143 synonymous SNV . 0 24 hm5C_associated_SNPs_121775 2 Likely benign not specified RCV000118967.2
3875 chrX 84520143 84520143 1 + A G rs72549428 84520140 + 84520120 84520160 41 TAAGGTGGAACAGAAATTGTCACAGAGAGTGAGTACACCAG TAAGGTGGAACAGAAATTGTCACGGAGAGTGAGTACACCAG < 41bp 0.485945412817422 0.715709605819445 0.29447 0.4526391 prediction 0.43141921163889 Functional Gain - ZNF711 ENSG00000147180 CDS Human protein_coding chrX:84520140 chrX:84520143 synonymous SNV . 0 24 hm5C_associated_SNPs_121775 2 Benign Non-syndromic X-linked intellectual disability RCV000353230.1
3875 chr11 44148443 44148443 1 + T C rs11828047 44148440 + 44148420 44148460 41 AGCGATGTGTTACAAGCTGGCTGTGTCCCGGTTGTCATTGC AGCGATGTGTTACAAGCTGGCTGCGTCCCGGTTGTCATTGC < 41bp 0.535775030901442 0.751131242301837 0.051620215 0.06755537 prediction 0.430712422800789 Functional Gain - EXT2 ENSG00000151348 CDS Human protein_coding chr11:44148440 chr11:44148443 synonymous SNV . 0 24 hm5C_associated_SNPs_121942 1 Likely benign Hereditary Multiple Osteochondromatosis RCV000365702.1
3875 chr7 107330644 107330644 1 + C T HNSC 107330643 + 107330623 107330663 41 GTGGCCACCACTGCTCTTTCCCGCACGGCCGTCCAGGAGAG GTGGCCACCACTGCTCTTTCCTGCACGGCCGTCCAGGAGAG < 41bp 0.617870478941017 0.833181913848162 0.07965934 0.25665438 prediction 0.430622869814291 Functional Gain - SLC26A4 ENSG00000091137 CDS Human protein_coding chr7:107330643 chr7:107330644 nonsynonymous SNV 0.815 5 22 hm5C_associated_SNPs_121960 1 Likely pathogenic Pendred's syndrome RCV000411132.1
3875 chr7 33573603 33573603 1 + T A rs142434516 33573599 + 33573579 33573619 41 CGGTGGATGCCGCCATTTCCCACCTGTTGAAGACTTGCCTG CGGTGGATGCCGCCATTTCCCACCAGTTGAAGACTTGCCTG < 41bp 0.663222638599427 0.877940292259493 0.08833149 0.2996443 prediction 0.429435307320132 Functional Gain - BBS9 ENSG00000122507 CDS Human protein_coding chr7:33573599 chr7:33573603 nonsynonymous SNV 0.987 4 25 hm5C_associated_SNPs_122250 1 Likely benign Bardet-Biedl syndrome RCV000230662.1
3875 chr17 78074207 78074207 1 + C G rs117359231 78074203 + 78074183 78074223 41 GGTGAGCACTGAAATAAGAGCACGCTGGGGCGTCCACACCA GGTGAGCACTGAAATAAGAGCACGGTGGGGCGTCCACACCA < 41bp 0.626205964105349 0.840917075044942 0.23604998 0.5235191 prediction 0.429422221879186 Functional Gain - CCDC40 ENSG00000141519 UTR3 Human protein_coding chr17:78074203 chr17:78074207 . . 0 25 hm5C_associated_SNPs_122256 1 Uncertain significance Primary ciliary dyskinesia RCV000265812.1
3875 chr6 139164210 139164210 1 + T C rs76700722 139164208 + 139164188 139164228 41 GGTGCTTGGAAGCGCCATTACATTGCTTGTGTGTCCCACTT GGTGCTTGGAAGCGCCATTACACTGCTTGTGTGTCCCACTT < 41bp 0.425732440425265 0.714576993607197 0.023938507 0.018608928 prediction 0.429153987214393 Functional Gain - ECT2L ENSG00000203734 CDS Human protein_coding chr6:139164208 chr6:139164210 nonsynonymous SNV 0.972 1 23 hm5C_associated_SNPs_122310 1 not provided not specified RCV000120677.1
3875 chr15 85401259 85401259 1 + C T rs306197 85401258 + 85401238 85401278 41 AGGGTGAAGGAGAGGTTTCCCCTGAGGGGCCTGGCCTCCTG AGGGTGAAGGAGAGGTTTCCCTTGAGGGGCCTGGCCTCCTG < 41bp 0.568268755999296 0.782736393300839 0.12141678 0.073461354 prediction 0.428935274603085 Functional Gain - ALPK3 ENSG00000136383 CDS Human protein_coding chr15:85401258 chr15:85401259 nonsynonymous SNV 0.003 0 22 hm5C_associated_SNPs_122369 1 Benign not specified RCV000436934.1
3875 chr2 71192257 71192257 1 + C A rs45498896 71192253 + 71192233 71192273 41 GCCTGACACTGCGCTCTAGCCCCGCGCGCCGTGGCACCCCA GCCTGACACTGCGCTCTAGCCCCGAGCGCCGTGGCACCCCA < 41bp 0.716020176598789 0.930467135213142 0.34743798 0.56501454 prediction 0.428893917228705 Functional Gain - ATP6V1B1 ENSG00000116039 UTR3 Human protein_coding chr2:71192253 chr2:71192257 . . 0 25 hm5C_associated_SNPs_122378 2 Benign not specified RCV000037200.2
3875 chr2 71192257 71192257 1 + C A rs45498896 71192253 + 71192233 71192273 41 GCCTGACACTGCGCTCTAGCCCCGCGCGCCGTGGCACCCCA GCCTGACACTGCGCTCTAGCCCCGAGCGCCGTGGCACCCCA < 41bp 0.716020176598789 0.930467135213142 0.34743798 0.56501454 prediction 0.428893917228705 Functional Gain - ATP6V1B1 ENSG00000116039 UTR3 Human protein_coding chr2:71192253 chr2:71192257 . . 0 25 hm5C_associated_SNPs_122378 2 Likely benign Renal tubular acidosis with progressive nerve deafness RCV000299567.1
3875 chr5 251215 251215 1 + C T STAD 251214 + 251194 251234 41 AAGCACCTGAAGACGTTCGACCGGGGTGAGCAGACAGTGGG AAGCACCTGAAGACGTTCGACTGGGGTGAGCAGACAGTGGG < 41bp 0.5933256699112 0.807603625800812 0.76887095 0.3692609 prediction 0.428555911779225 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:251214 chr5:251215 nonsynonymous SNV 0.937 4 22 hm5C_associated_SNPs_122478 3 Pathogenic Mitochondrial complex II deficiency RCV000009281.3
3875 chr5 251215 251215 1 + C T STAD 251214 + 251194 251234 41 AAGCACCTGAAGACGTTCGACCGGGGTGAGCAGACAGTGGG AAGCACCTGAAGACGTTCGACTGGGGTGAGCAGACAGTGGG < 41bp 0.5933256699112 0.807603625800812 0.76887095 0.3692609 prediction 0.428555911779225 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:251214 chr5:251215 nonsynonymous SNV 0.937 4 22 hm5C_associated_SNPs_122478 3 Uncertain significance Mitochondrial complex II deficiency RCV000456631.1
3875 chr5 251215 251215 1 + C T STAD 251214 + 251194 251234 41 AAGCACCTGAAGACGTTCGACCGGGGTGAGCAGACAGTGGG AAGCACCTGAAGACGTTCGACTGGGGTGAGCAGACAGTGGG < 41bp 0.5933256699112 0.807603625800812 0.76887095 0.3692609 prediction 0.428555911779225 Functional Gain - SDHA ENSG00000073578 CDS Human protein_coding chr5:251214 chr5:251215 nonsynonymous SNV 0.937 4 22 hm5C_associated_SNPs_122478 3 Uncertain significance Paragangliomas 5 RCV000456631.1
3875 chr1 156106204 156106204 1 + C T UCEC 156106203 + 156106183 156106223 41 GATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAA GATGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAA < 41bp 0.578055842330748 0.792312352446092 0.7413281 0.5234223 prediction 0.428513020230687 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106203 chr1:156106204 nonsynonymous SNV 0.996 5 22 hm5C_associated_SNPs_122494 5 Pathogenic Benign scapuloperoneal muscular dystrophy with cardiomyopathy RCV000015565.27
3875 chr1 156106204 156106204 1 + C T UCEC 156106203 + 156106183 156106223 41 GATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAA GATGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAA < 41bp 0.578055842330748 0.792312352446092 0.7413281 0.5234223 prediction 0.428513020230687 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106203 chr1:156106204 nonsynonymous SNV 0.996 5 22 hm5C_associated_SNPs_122494 5 Pathogenic not provided RCV000057273.3
3875 chr1 156106204 156106204 1 + C T UCEC 156106203 + 156106183 156106223 41 GATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAA GATGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAA < 41bp 0.578055842330748 0.792312352446092 0.7413281 0.5234223 prediction 0.428513020230687 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106203 chr1:156106204 nonsynonymous SNV 0.996 5 22 hm5C_associated_SNPs_122494 5 other Limb-girdle muscular dystrophy, type 1B RCV000230383.2
3875 chr1 156106204 156106204 1 + C T UCEC 156106203 + 156106183 156106223 41 GATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAA GATGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAA < 41bp 0.578055842330748 0.792312352446092 0.7413281 0.5234223 prediction 0.428513020230687 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106203 chr1:156106204 nonsynonymous SNV 0.996 5 22 hm5C_associated_SNPs_122494 5 Pathogenic Charcot-Marie-Tooth disease, type 2 RCV000472112.1
3875 chr1 156106204 156106204 1 + C T UCEC 156106203 + 156106183 156106223 41 GATGAGGAGGGCAAGTTTGTCCGGCTGCGCAACAAGTCCAA GATGAGGAGGGCAAGTTTGTCTGGCTGCGCAACAAGTCCAA < 41bp 0.578055842330748 0.792312352446092 0.7413281 0.5234223 prediction 0.428513020230687 Functional Gain - LMNA ENSG00000160789 CDS Human protein_coding chr1:156106203 chr1:156106204 nonsynonymous SNV 0.996 5 22 hm5C_associated_SNPs_122494 5 Pathogenic Muscular dystrophy RCV000500734.1
3875 chr3 33185859 33185859 1 + A G rs4429578 33185856 + 33185836 33185876 41 GGGAGGTTCTGGCTGCAAATCAAAGTGGAGAGTTCTCTCAG GGGAGGTTCTGGCTGCAAATCAAGGTGGAGAGTTCTCTCAG < 41bp 0.570111876409548 0.784232330440816 0.88173115 0.918992 prediction 0.428240908062536 Functional Gain - CRTAP ENSG00000272149 ncRNA_intronic Human antisense chr3:33185856 chr3:33185859 . . 0 24 hm5C_associated_SNPs_122559 1 Likely benign Osteogenesis Imperfecta, Recessive RCV000303161.1
3875 chrX 135290715 135290715 1 + C T OV 135290714 + 135290694 135290734 41 GCTGGCTGGGCAGCGTTTCACCGCTGTGGAGGACCAGTATT GCTGGCTGGGCAGCGTTTCACTGCTGTGGAGGACCAGTATT < 41bp 0.581954917388828 0.796059627106065 0.25906637 0.353818 prediction 0.428209419434474 Functional Gain - FHL1 ENSG00000022267 CDS Human protein_coding chrX:135290714 chrX:135290715 synonymous SNV . 0 22 hm5C_associated_SNPs_122571 1 Likely benign not specified RCV000425532.1
3875 chr12 112926909 112926909 1 + A G GBM 112926906 + 112926886 112926926 41 AGGGATGGTCCAGACAGAAGCACAGTACCGATTTATCTATA AGGGATGGTCCAGACAGAAGCACGGTACCGATTTATCTATA < 41bp 0.474771558009929 0.713934025111706 0.19269651 0.47709537 prediction 0.427868050223411 Functional Gain - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926906 chr12:112926909 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_122652 2 Pathogenic Noonan syndrome 1 RCV000014273.3
3875 chr12 112926909 112926909 1 + A G GBM 112926906 + 112926886 112926926 41 AGGGATGGTCCAGACAGAAGCACAGTACCGATTTATCTATA AGGGATGGTCCAGACAGAAGCACGGTACCGATTTATCTATA < 41bp 0.474771558009929 0.713934025111706 0.19269651 0.47709537 prediction 0.427868050223411 Functional Gain - PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112926906 chr12:112926909 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_122652 2 Pathogenic not provided RCV000414743.1
3875 chr17 78092070 78092070 1 + C T rs121907943 78092069 + 78092049 78092089 41 CTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGA CTGACCAAGGGTGGGGAGGCCTGAGGGGAGCTGTTCTGGGA < 41bp 0.570561231679638 0.784406165927053 0.85580003 0.87091875 prediction 0.427689868494831 Functional Gain - GAA ENSG00000171298 CDS Human protein_coding chr17:78092069 chr17:78092070 stopgain 0.021 0 22 hm5C_associated_SNPs_122701 2 Pathogenic Glycogen storage disease, type II RCV000004249.5
3875 chr17 78092070 78092070 1 + C T rs121907943 78092069 + 78092049 78092089 41 CTGACCAAGGGTGGGGAGGCCCGAGGGGAGCTGTTCTGGGA CTGACCAAGGGTGGGGAGGCCTGAGGGGAGCTGTTCTGGGA < 41bp 0.570561231679638 0.784406165927053 0.85580003 0.87091875 prediction 0.427689868494831 Functional Gain - GAA ENSG00000171298 CDS Human protein_coding chr17:78092069 chr17:78092070 stopgain 0.021 0 22 hm5C_associated_SNPs_122701 2 Pathogenic not provided RCV000255539.1
3875 chr11 6413366 6413366 1 + C T rs72896268 6413365 + 6413345 6413385 41 TTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCA TTGGGAGCCCTGGCTGCCTGCTGAAGCCCTGCGCACCCTCA < 41bp 0.57228399291497 0.785966310429996 0.4598288 0.245098 prediction 0.427364635030052 Functional Gain - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6413365 chr11:6413366 synonymous SNV . 0 22 hm5C_associated_SNPs_122775 2 other not specified RCV000079188.5
3875 chr11 6413366 6413366 1 + C T rs72896268 6413365 + 6413345 6413385 41 TTGGGAGCCCTGGCTGCCTGCCGAAGCCCTGCGCACCCTCA TTGGGAGCCCTGGCTGCCTGCTGAAGCCCTGCGCACCCTCA < 41bp 0.57228399291497 0.785966310429996 0.4598288 0.245098 prediction 0.427364635030052 Functional Gain - SMPD1 ENSG00000166311 CDS Human protein_coding chr11:6413365 chr11:6413366 synonymous SNV . 0 22 hm5C_associated_SNPs_122775 2 Uncertain significance Sphingomyelin/cholesterol lipidosis RCV000394529.1
3875 chr4 43032461 43032461 1 + C T rs61733348 43032460 + 43032440 43032480 41 GTGCCATGGGAGCAAGATGTCCATGTTTCGAAACTGCTTCA GTGCCATGGGAGCAAGATGTCTATGTTTCGAAACTGCTTCA < 41bp 0.484858539552469 0.713602028846919 0.026270509 0.03477916 prediction 0.427204057693837 Functional Gain - GRXCR1 ENSG00000215203 CDS Human protein_coding chr4:43032460 chr4:43032461 synonymous SNV . 0 22 hm5C_associated_SNPs_122809 1 Benign not specified RCV000036858.2
3875 chr17 15902823 15902823 1 + G C rs200004394 15902824 - 15902804 15902844 41 AGAGCGCGCGAAGTACGGGACCGAGGTCGTGTGTGGCTGCG AGAGCGCGCGAAGTACGGGACGGAGGTCGTGTGTGGCTGCG < 41bp 0.667614623004316 0.8812138007827 0.40600514 0.6564324 prediction 0.427198355556766 Functional Gain - TTC19 ENSG00000011295;ENSG00000214941 CDS Human other chr17:15902824 chr17:15902823 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_122813 2 Benign not specified RCV000125730.1
3875 chr17 15902823 15902823 1 + G C rs200004394 15902824 - 15902804 15902844 41 AGAGCGCGCGAAGTACGGGACCGAGGTCGTGTGTGGCTGCG AGAGCGCGCGAAGTACGGGACGGAGGTCGTGTGTGGCTGCG < 41bp 0.667614623004316 0.8812138007827 0.40600514 0.6564324 prediction 0.427198355556766 Functional Gain - TTC19 ENSG00000011295;ENSG00000214941 CDS Human other chr17:15902824 chr17:15902823 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_122813 2 Uncertain significance Mitochondrial complex III deficiency RCV000351760.1
3875 chr15 72105912 72105912 1 + C T COAD 72105911 + 72105891 72105931 41 CAGGAAACTATCTCTCGGTTCCGGGCATTGGCGGTGGACCC CAGGAAACTATCTCTCGGTTCTGGGCATTGGCGGTGGACCC < 41bp 0.507453148653641 0.720963234929837 0.7477639 0.38970587 prediction 0.427020172552392 Functional Gain - NR2E3 ENSG00000031544 ncRNA_exonic Human other chr15:72105911 chr15:72105912 . 0.478 1 22 hm5C_associated_SNPs_122853 1 Likely pathogenic not provided RCV000485007.1
3875 chr16 11017815 11017815 1 + T C rs45617532 11017813 + 11017793 11017833 41 CTCTTCTCCAGGCTGTATCCCATGAGCCTCAGCATCCTGGC CTCTTCTCCAGGCTGTATCCCACGAGCCTCAGCATCCTGGC < 41bp 0.595068942193772 0.808533292095037 0.06351361 0.110672414 prediction 0.426928699802529 Functional Gain - CIITA ENSG00000179583 UTR3 Human protein_coding chr16:11017813 chr16:11017815 . . 0 23 hm5C_associated_SNPs_122877 1 Uncertain significance SCID due to absent class II HLA antigens RCV000364465.1
3875 chr16 68862157 68862157 1 + C T STAD 68862156 + 68862136 68862176 41 CTGCCCCCAGAGGATGACACCCGGGACAACGTTTATTACTA CTGCCCCCAGAGGATGACACCTGGGACAACGTTTATTACTA < 41bp 0.454247400957697 0.713394064002979 0.37729827 0.40911657 prediction 0.426788128005958 Functional Gain - CDH1 ENSG00000039068 CDS Human protein_coding chr16:68862156 chr16:68862157 nonsynonymous SNV 1.000 5 22 hm5C_associated_SNPs_122914 1 Uncertain significance not specified RCV000479819.1
3875 chr2 71163161 71163161 1 + T C UCEC 71163159 + 71163139 71163179 41 CTAGGTGCAGCCCGAGAACACATGCAGGCGGTCACCCGAAA CTAGGTGCAGCCCGAGAACACACGCAGGCGGTCACCCGAAA < 41bp 0.470598982790336 0.713387325109211 0.22952166 0.1010786 prediction 0.426774650218422 Functional Gain - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163159 chr2:71163161 nonsynonymous SNV 0.857 1 23 hm5C_associated_SNPs_122918 1 other not specified RCV000222331.2
3875 chr1 201301906 201301906 1 + C G rs1046970 201301902 + 201301882 201301922 41 TTGGAATCTGGCTGAACTGGCTGGCAGGACCAAGACTGCGG TTGGAATCTGGCTGAACTGGCTGGGAGGACCAAGACTGCGG < 41bp 0.57638344472742 0.789759935078299 0.20189407 0.70664793 prediction 0.426752980701758 Functional Gain - PKP1 ENSG00000081277 UTR3 Human protein_coding chr1:201301902 chr1:201301906 . . 0 25 hm5C_associated_SNPs_122925 1 Benign Ectodermal dysplasia skin fragility syndrome RCV000374037.1
3875 chr2 27322645 27322645 1 + A G rs189674797 27322647 - 27322627 27322667 41 GCAGCCGCAATGGTAGTCTCCATGGTGTGTGAGGAGCCGGC GCAGCCGCAATGGTAGTCTCCACGGTGTGTGAGGAGCCGGC < 41bp 0.545177547151145 0.758159191245163 0.26843446 0.4536148 prediction 0.425963288188036 Functional Gain - CGREF1;KHK ENSG00000138028;ENSG00000138030 UTR3 Human other chr2:27322647 chr2:27322645 . . 0 23 hm5C_associated_SNPs_123132 1 Uncertain significance Fructosuria, essential RCV000319673.1
3875 chr5 177035964 177035964 1 + T C rs729459 177035962 + 177035942 177035982 41 ACAAGACATTTCGCCACCTGCATGACCCAGCCTGGCGGAAG ACAAGACATTTCGCCACCTGCACGACCCAGCCTGGCGGAAG < 41bp 0.642242512564225 0.855012317314484 0.17901123 0.09051451 prediction 0.425539609500518 Functional Gain - B4GALT7 ENSG00000027847 CDS Human protein_coding chr5:177035962 chr5:177035964 synonymous SNV . 0 23 hm5C_associated_SNPs_123241 1 Benign not specified RCV000417981.1
3875 chr17 42980074 42980074 1 + C T SKCM 42980073 + 42980053 42980093 41 AGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCT AGCCATGGGCAACCCCAGATCTGTGAAGGAGGGGCTCAGCT < 41bp 0.544628946758135 0.75729592188794 0.18620059 0.22013876 prediction 0.42533395025961 Functional Gain - CCDC103 ENSG00000167131 CDS Human protein_coding chr17:42980073 chr17:42980074 synonymous SNV . 0 22 hm5C_associated_SNPs_123294 1 Likely benign not specified RCV000244495.1
3875 chr20 44048183 44048183 1 + C T rs574183358 44048182 + 44048162 44048202 41 CTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCA CTGAAGGCAGATCGCTTGTTCTACACCAGCTACCACTCCCA < 41bp 0.576558409368757 0.789217628649211 0.057375968 0.32561362 prediction 0.425318438560907 Functional Gain - PIGT ENSG00000124155 CDS Human protein_coding chr20:44048182 chr20:44048183 nonsynonymous SNV 1.000 3 22 hm5C_associated_SNPs_123299 2 Uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3 RCV000477894.1
3875 chr20 44048183 44048183 1 + C T rs574183358 44048182 + 44048162 44048202 41 CTGAAGGCAGATCGCTTGTTCCACACCAGCTACCACTCCCA CTGAAGGCAGATCGCTTGTTCTACACCAGCTACCACTCCCA < 41bp 0.576558409368757 0.789217628649211 0.057375968 0.32561362 prediction 0.425318438560907 Functional Gain - PIGT ENSG00000124155 CDS Human protein_coding chr20:44048182 chr20:44048183 nonsynonymous SNV 1.000 3 22 hm5C_associated_SNPs_123299 2 Uncertain significance Paroxysmal nocturnal hemoglobinuria 2 RCV000477894.1
3875 chrX 47086497 47086497 1 + C T UCEC 47086496 + 47086476 47086516 41 GCCCTTTTGAGCCACGCACCCCGGTGAGGCTGGTGGGTGGG GCCCTTTTGAGCCACGCACCCTGGTGAGGCTGGTGGGTGGG < 41bp 0.463386004488654 0.712645114760091 0.24698344 0.24869308 prediction 0.425290229520182 Functional Gain - CDK16 ENSG00000102225 CDS Human protein_coding chrX:47086496 chrX:47086497 stopgain 1.000 2 22 hm5C_associated_SNPs_123308 1 Pathogenic not provided RCV000152957.3
3875 chr2 48026311 48026311 1 + T C STAD 48026308 + 48026288 48026328 41 CCGATTTTGATGCATCTACACTCTATGTGCCTGAGGATTTC CCGATTTTGATGCATCTACACTCCATGTGCCTGAGGATTTC < 41bp 0.572878556265607 0.78550061657632 0.9296137 0.9616146 prediction 0.425244120621426 Functional Gain - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026308 chr2:48026311 nonsynonymous SNV 0.998 2 24 hm5C_associated_SNPs_123318 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000115371.5
3875 chr2 48026311 48026311 1 + T C STAD 48026308 + 48026288 48026328 41 CCGATTTTGATGCATCTACACTCTATGTGCCTGAGGATTTC CCGATTTTGATGCATCTACACTCCATGTGCCTGAGGATTTC < 41bp 0.572878556265607 0.78550061657632 0.9296137 0.9616146 prediction 0.425244120621426 Functional Gain - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026308 chr2:48026311 nonsynonymous SNV 0.998 2 24 hm5C_associated_SNPs_123318 3 Uncertain significance not specified RCV000212648.1
3875 chr2 48026311 48026311 1 + T C STAD 48026308 + 48026288 48026328 41 CCGATTTTGATGCATCTACACTCTATGTGCCTGAGGATTTC CCGATTTTGATGCATCTACACTCCATGTGCCTGAGGATTTC < 41bp 0.572878556265607 0.78550061657632 0.9296137 0.9616146 prediction 0.425244120621426 Functional Gain - MSH6 ENSG00000116062 CDS Human protein_coding chr2:48026308 chr2:48026311 nonsynonymous SNV 0.998 2 24 hm5C_associated_SNPs_123318 3 Uncertain significance Lynch syndrome RCV000457819.1
3875 chr4 123664334 123664334 1 + T C rs17006094 123664331 + 123664311 123664351 41 TTAATTGAAAAATGTATAAACAGTAAGCGGTTGGTAATCGG TTAATTGAAAAATGTATAAACAGCAAGCGGTTGGTAATCGG < 41bp 0.544472986432323 0.757090552583615 0.0969443 0.057590634 prediction 0.425235132302585 Functional Gain - BBS12 ENSG00000181004 CDS Human protein_coding chr4:123664331 chr4:123664334 synonymous SNV . 0 24 hm5C_associated_SNPs_123319 1 Likely benign not specified RCV000254113.1
3875 chr17 7579329 7579329 1 + T C LGG 7579327 + 7579307 7579347 41 CTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAA CTGACCGTGCAAGTCACAGACTCGGCTGTCCCAGAATGCAA < 41bp 0.583080949711014 0.795687218932658 0.3691094 0.2687594 prediction 0.425212538443288 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579327 chr17:7579329 nonsynonymous SNV 1.000 5 23 hm5C_associated_SNPs_123322 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000129457.5
3875 chr17 7579329 7579329 1 + T C LGG 7579327 + 7579307 7579347 41 CTGACCGTGCAAGTCACAGACTTGGCTGTCCCAGAATGCAA CTGACCGTGCAAGTCACAGACTCGGCTGTCCCAGAATGCAA < 41bp 0.583080949711014 0.795687218932658 0.3691094 0.2687594 prediction 0.425212538443288 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7579327 chr17:7579329 nonsynonymous SNV 1.000 5 23 hm5C_associated_SNPs_123322 2 Pathogenic not provided RCV000213049.1
3875 chr20 43034783 43034783 1 + C T rs736823 43034782 + 43034762 43034802 41 TGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTG TGCCATCTGCGGGGACCGGGCTACGGGCAAACACTACGGTG < 41bp 0.459018210998301 0.712576874868795 0.9064674 0.8945857 prediction 0.42515374973759 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43034782 chr20:43034783 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_123339 3 Benign not specified RCV000117236.3
3875 chr20 43034783 43034783 1 + C T rs736823 43034782 + 43034762 43034802 41 TGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTG TGCCATCTGCGGGGACCGGGCTACGGGCAAACACTACGGTG < 41bp 0.459018210998301 0.712576874868795 0.9064674 0.8945857 prediction 0.42515374973759 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43034782 chr20:43034783 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_123339 3 Likely benign Maturity-onset diabetes of the young RCV000272263.1
3875 chr20 43034783 43034783 1 + C T rs736823 43034782 + 43034762 43034802 41 TGCCATCTGCGGGGACCGGGCCACGGGCAAACACTACGGTG TGCCATCTGCGGGGACCGGGCTACGGGCAAACACTACGGTG < 41bp 0.459018210998301 0.712576874868795 0.9064674 0.8945857 prediction 0.42515374973759 Functional Gain - HNF4A ENSG00000101076 CDS Human protein_coding chr20:43034782 chr20:43034783 nonsynonymous SNV . 0 22 hm5C_associated_SNPs_123339 3 Likely benign Hyperinsulinism, Dominant RCV000329726.1
3875 chr2 179407042 179407042 1 + C T UCEC 179407041 + 179407021 179407061 41 ACTGCAAGTAAGAGCCAATCCCGAAGCGGTTTGTTGCAGCC ACTGCAAGTAAGAGCCAATCCTGAAGCGGTTTGTTGCAGCC < 41bp 0.568918407522347 0.781445009806113 0.52247244 0.26676202 prediction 0.425053204567533 Functional Gain - TTN ENSG00000155657 CDS Human protein_coding chr2:179407041 chr2:179407042 nonsynonymous SNV 0.987 3 22 hm5C_associated_SNPs_123366 2 Uncertain significance not provided RCV000172181.1
3875 chr2 179407042 179407042 1 + C T UCEC 179407041 + 179407021 179407061 41 ACTGCAAGTAAGAGCCAATCCCGAAGCGGTTTGTTGCAGCC ACTGCAAGTAAGAGCCAATCCTGAAGCGGTTTGTTGCAGCC < 41bp 0.568918407522347 0.781445009806113 0.52247244 0.26676202 prediction 0.425053204567533 Functional Gain - TTN ENSG00000155657 CDS Human protein_coding chr2:179407041 chr2:179407042 nonsynonymous SNV 0.987 3 22 hm5C_associated_SNPs_123366 2 Uncertain significance not specified RCV000385791.1
3875 chr3 10194249 10194249 1 + T A rs142728549 10194245 + 10194225 10194265 41 GGAGTGCAGTGGTGCGATCTCTGCTCACTACAAGCTCTGCC GGAGTGCAGTGGTGCGATCTCTGCACACTACAAGCTCTGCC < 41bp 0.651813756127538 0.864263704351077 0.062019676 0.09919956 prediction 0.424899896447078 Functional Gain - VHL ENSG00000134086 downstream Human protein_coding chr3:10194245 chr3:10194249 . . 0 25 hm5C_associated_SNPs_123398 1 Benign Von Hippel-Lindau syndrome RCV000284269.1
3875 chr4 3494600 3494600 1 + A G rs6811423 3494597 + 3494577 3494617 41 CTCGTCGTCAGCCAGCACGTCACAGGAGGGGCCTAGACCAG CTCGTCGTCAGCCAGCACGTCACGGGAGGGGCCTAGACCAG < 41bp 0.603258760101847 0.815684544384802 0.8719237 0.87118995 prediction 0.424851568565911 Functional Gain - DOK7 ENSG00000175920 CDS Human protein_coding chr4:3494597 chr4:3494600 nonsynonymous SNV 0.038 0 24 hm5C_associated_SNPs_123412 1 Benign not specified RCV000116896.4
3875 chr11 44148425 44148425 1 + T C rs61733300 44148422 + 44148402 44148442 41 CTGGGCCAGGCAGTATTGAGCGATGTGTTACAAGCTGGCTG CTGGGCCAGGCAGTATTGAGCGACGTGTTACAAGCTGGCTG < 41bp 0.527520947192195 0.739922963935359 0.7861972 0.87244165 prediction 0.424804033486327 Functional Gain - EXT2 ENSG00000151348 CDS Human protein_coding chr11:44148422 chr11:44148425 synonymous SNV . 0 24 hm5C_associated_SNPs_123428 1 Likely benign Hereditary Multiple Osteochondromatosis RCV000306395.1
3875 chr7 127894625 127894625 1 + C T CESC 127894624 + 127894604 127894644 41 TCCAACGACCTGGAGAACCTCCGGGATCTTCTTCACGTGCT TCCAACGACCTGGAGAACCTCTGGGATCTTCTTCACGTGCT < 41bp 0.576198167391529 0.788573911389314 0.45217332 0.3536024 prediction 0.42475148799557 Functional Gain - LEP ENSG00000174697 CDS Human protein_coding chr7:127894624 chr7:127894625 nonsynonymous SNV 0.998 3 22 hm5C_associated_SNPs_123446 1 Pathogenic Leptin deficiency or dysfunction RCV000015024.25
3875 chr16 50745233 50745233 1 + C T rs1078327 50745232 + 50745212 50745252 41 GGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTC GGGGTGGCGGACCGCCTCATCTGCCTGCTCCAAGAGACCTC < 41bp 0.471337593559676 0.712269492792285 0.09481442 0.123004675 prediction 0.42453898558457 Functional Gain - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745232 chr16:50745233 nonsynonymous SNV 0.733 0 22 hm5C_associated_SNPs_123495 2 Likely benign Crohn disease RCV000291414.1
3875 chr16 50745233 50745233 1 + C T rs1078327 50745232 + 50745212 50745252 41 GGGGTGGCGGACCGCCTCATCCGCCTGCTCCAAGAGACCTC GGGGTGGCGGACCGCCTCATCTGCCTGCTCCAAGAGACCTC < 41bp 0.471337593559676 0.712269492792285 0.09481442 0.123004675 prediction 0.42453898558457 Functional Gain - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745232 chr16:50745233 nonsynonymous SNV 0.733 0 22 hm5C_associated_SNPs_123495 2 Likely benign Blau syndrome RCV000348743.1
3875 chr6 52343899 52343899 1 + T C rs1266787 52343897 + 52343877 52343917 41 TCTTACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCC TCTTACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCC < 41bp 0.402020184970104 0.712184840141696 0.08268413 0.026202977 prediction 0.424369680283393 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343897 chr6:52343899 nonsynonymous SNV 0.979 0 23 hm5C_associated_SNPs_123533 4 other not specified RCV000116943.4
3875 chr6 52343899 52343899 1 + T C rs1266787 52343897 + 52343877 52343917 41 TCTTACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCC TCTTACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCC < 41bp 0.402020184970104 0.712184840141696 0.08268413 0.026202977 prediction 0.424369680283393 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343897 chr6:52343899 nonsynonymous SNV 0.979 0 23 hm5C_associated_SNPs_123533 4 Likely benign Juvenile myoclonic epilepsy RCV000385399.1
3875 chr6 52343899 52343899 1 + T C rs1266787 52343897 + 52343877 52343917 41 TCTTACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCC TCTTACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCC < 41bp 0.402020184970104 0.712184840141696 0.08268413 0.026202977 prediction 0.424369680283393 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343897 chr6:52343899 nonsynonymous SNV 0.979 0 23 hm5C_associated_SNPs_123533 4 Benign Epilepsy juvenile absence RCV000473441.1
3875 chr6 52343899 52343899 1 + T C rs1266787 52343897 + 52343877 52343917 41 TCTTACTTTCTAGCTACCGACATGATCAGTATCTTTGAGCC TCTTACTTTCTAGCTACCGACACGATCAGTATCTTTGAGCC < 41bp 0.402020184970104 0.712184840141696 0.08268413 0.026202977 prediction 0.424369680283393 Functional Gain - EFHC1 ENSG00000096093 CDS Human protein_coding chr6:52343897 chr6:52343899 nonsynonymous SNV 0.979 0 23 hm5C_associated_SNPs_123533 4 Benign Juvenile myoclonic epilepsy RCV000473441.1
3875 chr8 28574958 28574958 1 + C T HNSC 28574957 + 28574937 28574977 41 CCCTGGAAGTCGGTGCCGTCCCGGTGGTGCTGGGGGAGCAG CCCTGGAAGTCGGTGCCGTCCTGGTGGTGCTGGGGGAGCAG < 41bp 0.473195886261779 0.712168585633187 0.37447518 0.42210993 prediction 0.424337171266374 Functional Gain - EXTL3 ENSG00000012232 CDS Human protein_coding chr8:28574957 chr8:28574958 nonsynonymous SNV 0.185 5 22 hm5C_associated_SNPs_123539 1 Pathogenic Immunoskeletal dysplasia with neurodevelopmental abnormalities RCV000477674.1
3875 chr1 227174210 227174210 1 + T C rs3738725 227174207 + 227174187 227174227 41 ATCCTGGGGGAGGCCTTCGCCTCTGATGAGCCTTTTGATTT ATCCTGGGGGAGGCCTTCGCCTCCGATGAGCCTTTTGATTT < 41bp 0.523522308207784 0.735681318492074 0.06862205 0.044813573 prediction 0.424318020568578 Functional Gain - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174207 chr1:227174210 synonymous SNV . 0 24 hm5C_associated_SNPs_123546 3 Likely benign not specified RCV000116236.2
3875 chr1 227174210 227174210 1 + T C rs3738725 227174207 + 227174187 227174227 41 ATCCTGGGGGAGGCCTTCGCCTCTGATGAGCCTTTTGATTT ATCCTGGGGGAGGCCTTCGCCTCCGATGAGCCTTTTGATTT < 41bp 0.523522308207784 0.735681318492074 0.06862205 0.044813573 prediction 0.424318020568578 Functional Gain - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174207 chr1:227174210 synonymous SNV . 0 24 hm5C_associated_SNPs_123546 3 Benign Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type RCV000277497.1
3875 chr1 227174210 227174210 1 + T C rs3738725 227174207 + 227174187 227174227 41 ATCCTGGGGGAGGCCTTCGCCTCTGATGAGCCTTTTGATTT ATCCTGGGGGAGGCCTTCGCCTCCGATGAGCCTTTTGATTT < 41bp 0.523522308207784 0.735681318492074 0.06862205 0.044813573 prediction 0.424318020568578 Functional Gain - COQ8A ENSG00000163050 CDS Human protein_coding chr1:227174207 chr1:227174210 synonymous SNV . 0 24 hm5C_associated_SNPs_123546 3 Benign Spinocerebellar Ataxia, Recessive RCV000363761.1
3875 chr22 37334280 37334280 1 + C A rs2228092 37334279 + 37334259 37334299 41 GTCCCCAACATCCCCACAGCCCGAGGGCCTCCTTGTCCTGC GTCCCCAACATCCCCACAGCCAGAGGGCCTCCTTGTCCTGC < 41bp 0.436126955923558 0.711981050510741 0.39615422 0.93864083 prediction 0.423962101021481 Functional Gain - CSF2RB ENSG00000100368 CDS Human protein_coding chr22:37334279 chr22:37334280 synonymous SNV . 0 22 hm5C_associated_SNPs_123646 1 Benign not specified RCV000214271.1
3875 chr2 211473157 211473157 1 + C A rs41272667 211473156 + 211473136 211473176 41 AGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTT AGAAATTAAGAACGTCGTATCAGGGAAGACATCAGCCTGTT < 41bp 0.448370862773755 0.7117468070929 0.8833562 0.9215826 prediction 0.4234936141858 Functional Gain - CPS1 ENSG00000021826 CDS Human protein_coding chr2:211473156 chr2:211473157 synonymous SNV . 0 22 hm5C_associated_SNPs_123762 2 Benign not specified RCV000252194.2
3875 chr2 211473157 211473157 1 + C A rs41272667 211473156 + 211473136 211473176 41 AGAAATTAAGAACGTCGTATCCGGGAAGACATCAGCCTGTT AGAAATTAAGAACGTCGTATCAGGGAAGACATCAGCCTGTT < 41bp 0.448370862773755 0.7117468070929 0.8833562 0.9215826 prediction 0.4234936141858 Functional Gain - CPS1 ENSG00000021826 CDS Human protein_coding chr2:211473156 chr2:211473157 synonymous SNV . 0 22 hm5C_associated_SNPs_123762 2 Likely benign Congenital hyperammonemia, type I RCV000296134.1
3875 chr9 101891231 101891231 1 + A G rs112051451 101891228 + 101891208 101891248 41 TCTGTCACAGAGACCACAGACAAAGTTATACACAACAGCAT TCTGTCACAGAGACCACAGACAAGGTTATACACAACAGCAT < 41bp 0.544423780368118 0.756089279302475 0.26968265 0.4085963 prediction 0.423330997868713 Functional Gain - TGFBR1 ENSG00000106799 CDS Human protein_coding chr9:101891228 chr9:101891231 synonymous SNV . 0 24 hm5C_associated_SNPs_123804 2 Benign not specified RCV000199885.2
3875 chr9 101891231 101891231 1 + A G rs112051451 101891228 + 101891208 101891248 41 TCTGTCACAGAGACCACAGACAAAGTTATACACAACAGCAT TCTGTCACAGAGACCACAGACAAGGTTATACACAACAGCAT < 41bp 0.544423780368118 0.756089279302475 0.26968265 0.4085963 prediction 0.423330997868713 Functional Gain - TGFBR1 ENSG00000106799 CDS Human protein_coding chr9:101891228 chr9:101891231 synonymous SNV . 0 24 hm5C_associated_SNPs_123804 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000250211.1
3875 chr16 2551147 2551147 1 + C T rs62040717 2551146 + 2551126 2551166 41 CTGGGGTTTGGGCTGGGCTTCCCCAGTCCACCTGCATCTGG CTGGGGTTTGGGCTGGGCTTCTCCAGTCCACCTGCATCTGG < 41bp 0.534823407394257 0.746438258425559 0.37295702 0.9515091 prediction 0.423229702062604 Functional Gain - TBC1D24 ENSG00000162065 UTR3 Human protein_coding chr16:2551146 chr16:2551147 . . 0 22 hm5C_associated_SNPs_123826 1 Likely benign Myoclonic epilepsy, familial infantile RCV000403871.1
3875 chr2 74757348 74757348 1 + T C rs150047108 74757346 + 74757326 74757366 41 GTCACTGAACCCCGAGCATGCCTGACGTCTGGGACCCCGGG GTCACTGAACCCCGAGCATGCCCGACGTCTGGGACCCCGGG < 41bp 0.577072636716971 0.788613373910887 0.15908629 0.23875687 prediction 0.423081474387833 Functional Gain - HTRA2 ENSG00000115317 CDS Human protein_coding chr2:74757346 chr2:74757348 nonsynonymous SNV 0.089 1 23 hm5C_associated_SNPs_123861 1 Likely benign Parkinson Disease, Dominant RCV000381071.1
3875 chr1 156146825 156146825 1 + T C rs41265023 156146823 + 156146803 156146843 41 CCGGGGCTGCGGTGCAGGCACCTGGCCATGCTGGCTGGGCG CCGGGGCTGCGGTGCAGGCACCCGGCCATGCTGGCTGGGCG < 41bp 0.4739663559633 0.711500523844019 0.54065996 0.49296567 prediction 0.423001047688037 Functional Gain - SEMA4A ENSG00000196189 UTR3 Human protein_coding chr1:156146823 chr1:156146825 . . 0 23 hm5C_associated_SNPs_123876 2 Likely benign Cone-Rod Dystrophy, Recessive RCV000270750.1
3875 chr1 156146825 156146825 1 + T C rs41265023 156146823 + 156146803 156146843 41 CCGGGGCTGCGGTGCAGGCACCTGGCCATGCTGGCTGGGCG CCGGGGCTGCGGTGCAGGCACCCGGCCATGCTGGCTGGGCG < 41bp 0.4739663559633 0.711500523844019 0.54065996 0.49296567 prediction 0.423001047688037 Functional Gain - SEMA4A ENSG00000196189 UTR3 Human protein_coding chr1:156146823 chr1:156146825 . . 0 23 hm5C_associated_SNPs_123876 2 Likely benign Retinitis Pigmentosa, Recessive RCV000363046.1
3875 chr10 102749514 102749514 1 + C T COAD 102749513 + 102749493 102749533 41 ATCAGCAATGTGAGACTAGCCCGGGTCATGCTGACACAGTT ATCAGCAATGTGAGACTAGCCTGGGTCATGCTGACACAGTT < 41bp 0.588834993916102 0.800151697814408 0.79899734 0.48272684 prediction 0.422633407796613 Functional Gain - TWNK ENSG00000107815 CDS Human protein_coding chr10:102749513 chr10:102749514 nonsynonymous SNV 0.999 5 22 hm5C_associated_SNPs_123964 1 Uncertain significance not specified RCV000487273.1
3875 chr16 5127460 5127460 1 + T G rs112668461 5127458 + 5127438 5127478 41 CTTTTCAGGTACGAGAAGTTCTTTGGGCGCCTGTCCCACCT CTTTTCAGGTACGAGAAGTTCTGTGGGCGCCTGTCCCACCT < 41bp 0.351645185979249 0.710867111314994 0.32364368 0.46733117 prediction 0.421734222629988 Functional Gain - ALG1 ENSG00000033011 CDS Human protein_coding chr16:5127458 chr16:5127460 nonsynonymous SNV 0.561 1 23 hm5C_associated_SNPs_124182 1 Benign not specified RCV000441055.1
3875 chrX 18622765 18622765 1 + C T UCEC 18622764 + 18622744 18622784 41 CGATGGAGGAATTGAAGCTGCCGGAGCACATGGACAGTAGC CGATGGAGGAATTGAAGCTGCTGGAGCACATGGACAGTAGC < 41bp 0.459734926771715 0.710595170384153 0.37123227 0.26171786 prediction 0.421190340768306 Functional Gain - CDKL5 ENSG00000008086 CDS Human protein_coding chrX:18622764 chrX:18622765 nonsynonymous SNV 0.881 2 22 hm5C_associated_SNPs_124315 1 Likely benign not specified RCV000144830.2
3875 chrX 82764040 82764040 1 + A G rs5921978 82764037 + 82764017 82764057 41 CAGACCACCATCTGCAGGTTCGAAGGCTTGCAGCTGAGCTT CAGACCACCATCTGCAGGTTCGAGGGCTTGCAGCTGAGCTT < 41bp 0.608540360640133 0.819130576730861 0.24481115 0.8076712 prediction 0.421180432181456 Functional Gain - POU3F4 ENSG00000196767 CDS Human protein_coding chrX:82764037 chrX:82764040 synonymous SNV . 0 24 hm5C_associated_SNPs_124321 1 Benign not specified RCV000036259.2
3875 chr17 7606401 7606401 1 + C T rs35082161 7606400 + 7606380 7606420 41 CAATGATGGGAAGCCGGAGCCCGTGTTGAGTTTTCTGCCCC CAATGATGGGAAGCCGGAGCCTGTGTTGAGTTTTCTGCCCC < 41bp 0.463308534029076 0.710192961633898 0.33770603 0.2439563 prediction 0.420385923267795 Functional Gain - WRAP53 ENSG00000141499 CDS Human protein_coding chr17:7606400 chr17:7606401 synonymous SNV . 0 22 hm5C_associated_SNPs_124515 1 Benign not specified RCV000248054.1
3875 chr11 66299445 66299445 1 + A G rs150553044 66299442 + 66299422 66299462 41 GTGCTGGTGCTTCGAGAAGGCCAAAGTGCACCCCTGCTGAG GTGCTGGTGCTTCGAGAAGGCCAGAGTGCACCCCTGCTGAG < 41bp 0.589480772422446 0.799615967359866 0.57232374 0.93046296 prediction 0.420270389874839 Functional Gain - BBS1 ENSG00000174483;ENSG00000256349 CDS Human other chr11:66299442 chr11:66299445 synonymous SNV . 0 24 hm5C_associated_SNPs_124540 1 Uncertain significance Bardet-Biedl syndrome RCV000330285.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Adenocarcinoma of stomach RCV000418604.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Small cell lung cancer RCV000418790.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Hepatocellular carcinoma RCV000419222.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000421640.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Adrenocortical carcinoma RCV000426894.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Glioblastoma RCV000427499.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Oesophageal carcinoma RCV000428164.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Transitional cell carcinoma of the bladder RCV000428839.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Adenocarcinoma of prostate RCV000431867.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Pancreatic adenocarcinoma RCV000436907.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000437128.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Neoplasm of the breast RCV000438411.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Colorectal Neoplasms RCV000439967.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Likely pathogenic Squamous cell carcinoma of lung RCV000441352.1
3875 chr17 7577581 7577581 1 + A G COAD 7577584 - 7577564 7577604 41 GCTCTGACTGTACCACCATCCACTACAACTACATGTGTAAC GCTCTGACTGTACCACCATCCACCACAACTACATGTGTAAC < 41bp 0.519379769849923 0.729487060342233 0.21318552 0.0077467263 prediction 0.420214580984621 Functional Gain - TP53 ENSG00000141510 CDS Human protein_coding chr17:7577584 chr17:7577581 nonsynonymous SNV 1.000 5 24 hm5C_associated_SNPs_124552 15 Pathogenic Hereditary cancer-predisposing syndrome RCV000492782.1
3875 chr3 41266971 41266971 1 + C G rs3856747 41266970 + 41266950 41266990 41 TGTAGAAACAGCTCGTTGTACCGCTGGGACCTTGCATAACC TGTAGAAACAGCTCGTTGTACGGCTGGGACCTTGCATAACC < 41bp 0.392593074604576 0.709882440677431 0.025603116 0.06597012 prediction 0.419764881354862 Functional Gain - CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266970 chr3:41266971 synonymous SNV . 0 22 hm5C_associated_SNPs_124670 1 Likely benign not specified RCV000499585.1
3875 chr1 179520422 179520422 1 + T C rs3818587 179520419 + 179520399 179520439 41 CTGGGAGAAGACAGGCAATTCAGTAGGTCAAATGGCAAAGG CTGGGAGAAGACAGGCAATTCAGCAGGTCAAATGGCAAAGG < 41bp 0.519013355695842 0.728722959840962 0.48126635 0.565308 prediction 0.41941920829024 Functional Gain - NPHS2 ENSG00000116218 CDS Human protein_coding chr1:179520419 chr1:179520422 synonymous SNV . 0 24 hm5C_associated_SNPs_124770 2 Benign not specified RCV000252479.1
3875 chr1 179520422 179520422 1 + T C rs3818587 179520419 + 179520399 179520439 41 CTGGGAGAAGACAGGCAATTCAGTAGGTCAAATGGCAAAGG CTGGGAGAAGACAGGCAATTCAGCAGGTCAAATGGCAAAGG < 41bp 0.519013355695842 0.728722959840962 0.48126635 0.565308 prediction 0.41941920829024 Functional Gain - NPHS2 ENSG00000116218 CDS Human protein_coding chr1:179520419 chr1:179520422 synonymous SNV . 0 24 hm5C_associated_SNPs_124770 2 Likely benign Steroid-resistant nephrotic syndrome RCV000384195.1
3875 chr2 27278039 27278039 1 + C T UCEC 27278038 + 27278018 27278058 41 ATCCTCCGACCTGATGATCCCCGGGCCCAAACCCTCCGTCG ATCCTCCGACCTGATGATCCCTGGGCCCAAACCCTCCGTCG < 41bp 0.578594535712678 0.78811667067497 0.9230517 0.8154327 prediction 0.419044269924584 Functional Gain - AGBL5 ENSG00000084693 CDS Human protein_coding chr2:27278038 chr2:27278039 nonsynonymous SNV 0.998 4 22 hm5C_associated_SNPs_124873 1 Pathogenic Retinitis pigmentosa 75 RCV000234932.2
3875 chr17 78079677 78079677 1 + C G rs113085339 78079674 + 78079654 78079694 41 TCGGGGTGATCGTGCGCCGGCAGCTGGACGGCCGCGTGCTG TCGGGGTGATCGTGCGCCGGCAGGTGGACGGCCGCGTGCTG < 41bp 0.500906347681393 0.710187704252697 0.38105083 0.8111365 prediction 0.418562713142609 Functional Gain - GAA ENSG00000171298 CDS Human protein_coding chr17:78079674 chr17:78079677 nonsynonymous SNV 0.248 1 24 hm5C_associated_SNPs_124999 1 other not specified RCV000168658.4
3875 chr4 88583405 88583405 1 + C A rs79402270 88583404 + 88583384 88583424 41 CCACAAGGGCAAGACAGTGCCCAAGATACCACCAGTGAGAG CCACAAGGGCAAGACAGTGCCAAAGATACCACCAGTGAGAG < 41bp 0.461934947890683 0.709272452496102 0.057434797 0.19848472 prediction 0.418544904992204 Functional Gain - DMP1 ENSG00000152592 CDS Human protein_coding chr4:88583404 chr4:88583405 nonsynonymous SNV 0.536 2 22 hm5C_associated_SNPs_125005 1 Likely benign Hypophosphatemic Rickets, Recessive RCV000396857.1
3875 chr9 2039592 2039592 1 + C T UCEC 2039591 + 2039571 2039611 41 GGGCCCTCATCCCAGGTGATCCGCAGGCCATGAGCCAGCCC GGGCCCTCATCCCAGGTGATCTGCAGGCCATGAGCCAGCCC < 41bp 0.613404204814924 0.822617799585936 0.64133966 0.79372233 prediction 0.418427189542023 Functional Gain - SMARCA2 ENSG00000080503 CDS Human protein_coding chr9:2039591 chr9:2039592 nonsynonymous SNV 0.802 0 22 hm5C_associated_SNPs_125035 1 Uncertain significance Coffin Siris/Intellectual Disability RCV000114293.1
3875 chr16 11001322 11001322 1 + C G rs2229319 11001318 + 11001298 11001338 41 TCGACAGCCCCCCCGGGGCCCTGGCAGAGCTGGCCAAGCTG TCGACAGCCCCCCCGGGGCCCTGGGAGAGCTGGCCAAGCTG < 41bp 0.399414710623375 0.709207548397773 0.21948811 0.6666187 prediction 0.418415096795546 Functional Gain - CIITA ENSG00000179583 CDS Human protein_coding chr16:11001318 chr16:11001322 nonsynonymous SNV 0.006 0 25 hm5C_associated_SNPs_125039 1 Likely benign SCID due to absent class II HLA antigens RCV000314222.1
3875 chr6 50813551 50813551 1 + C G rs187079439 50813547 + 50813527 50813567 41 AGAATCAGCCGCTGGAGGGGCTGCCGACTGCGCGGGCCCTT AGAATCAGCCGCTGGAGGGGCTGCGGACTGCGCGGGCCCTT < 41bp 0.438785882010233 0.709169210823401 0.31381112 0.660484 prediction 0.418338421646801 Functional Gain - TFAP2B ENSG00000008196 UTR3 Human protein_coding chr6:50813547 chr6:50813551 . . 0 25 hm5C_associated_SNPs_125058 1 Likely benign Char syndrome RCV000311871.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Uterine cervical neoplasms RCV000417650.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Malignant neoplasm of body of uterus RCV000421854.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Malignant lymphoma, non-Hodgkin RCV000422522.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Glioblastoma RCV000428317.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Colorectal Neoplasms RCV000429042.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Malignant melanoma of skin RCV000438355.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Neoplasm of the breast RCV000438998.1
3875 chr3 178921549 178921549 1 + T G CESC 178921547 + 178921527 178921567 41 AAAATTCTTTGTGCAACCTACGTGAATGTAAATATTCGAGA AAAATTCTTTGTGCAACCTACGGGAATGTAAATATTCGAGA < 41bp 0.378494464237492 0.709081549298401 0.0639132 0.23449278 prediction 0.418163098596802 Functional Gain - PIK3CA ENSG00000121879 CDS Human protein_coding chr3:178921547 chr3:178921549 nonsynonymous SNV 0.989 4 23 hm5C_associated_SNPs_125111 8 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000439748.1
3875 chr12 98987485 98987485 1 + C G rs542602103 98987484 + 98987464 98987504 41 CTCTGTGAGCCGCAACCTTTCCAAGGGAGTGGTTGTGTGAT CTCTGTGAGCCGCAACCTTTCGAAGGGAGTGGTTGTGTGAT < 41bp 0.40182095657174 0.709047442356892 0.9031403 0.9254075 prediction 0.418094884713785 Functional Gain - SLC25A3 ENSG00000075415 UTR5 Human protein_coding chr12:98987484 chr12:98987485 . . 0 22 hm5C_associated_SNPs_125132 1 Benign not specified RCV000128095.1
3875 chr11 20676417 20676417 1 + C T rs1401793 20676416 + 20676396 20676436 41 ACTGGGCACTCAGTGCTAGTCCAGTGGTGTGGGATGGTCCA ACTGGGCACTCAGTGCTAGTCTAGTGGTGTGGGATGGTCCA < 41bp 0.510467359045393 0.719150020905392 0.33460546 0.09456888 prediction 0.417365323719997 Functional Gain - SLC6A5 ENSG00000165970 UTR3 Human protein_coding chr11:20676416 chr11:20676417 . . 0 22 hm5C_associated_SNPs_125326 1 Benign Hyperekplexia RCV000407325.1
3875 chr1 228353781 228353781 1 + C G rs13375853 228353780 + 228353760 228353800 41 GAGTCCTGCGGCCGCGGGGGCCCCGCCTGCTGCGCGCGCGG GAGTCCTGCGGCCGCGGGGGCGCCGCCTGCTGCGCGCGCGG < 41bp 0.39626127579629 0.708634772906823 0.5277534 0.76421154 prediction 0.417269545813646 Functional Gain - IBA57 ENSG00000181873 CDS Human protein_coding chr1:228353780 chr1:228353781 synonymous SNV . 0 22 hm5C_associated_SNPs_125355 1 Benign not specified RCV000442426.1
3875 chr5 147480112 147480112 1 + T C rs2303065 147480110 + 147480090 147480130 41 AGGGCCCAGATGGGAAAGTGCATGGCAACACCTGCTCCATG AGGGCCCAGATGGGAAAGTGCACGGCAACACCTGCTCCATG < 41bp 0.627142273346695 0.835552884780646 0.3615014 0.4282468 prediction 0.416821222867903 Functional Gain - SPINK5 ENSG00000133710 CDS Human protein_coding chr5:147480110 chr5:147480112 synonymous SNV . 0 23 hm5C_associated_SNPs_125458 2 Benign not specified RCV000243483.1
3875 chr5 147480112 147480112 1 + T C rs2303065 147480110 + 147480090 147480130 41 AGGGCCCAGATGGGAAAGTGCATGGCAACACCTGCTCCATG AGGGCCCAGATGGGAAAGTGCACGGCAACACCTGCTCCATG < 41bp 0.627142273346695 0.835552884780646 0.3615014 0.4282468 prediction 0.416821222867903 Functional Gain - SPINK5 ENSG00000133710 CDS Human protein_coding chr5:147480110 chr5:147480112 synonymous SNV . 0 23 hm5C_associated_SNPs_125458 2 Benign Netherton syndrome RCV000358416.1
3875 chr8 145583657 145583657 1 + C T LUAD 145583656 + 145583636 145583676 41 GCCCTAGTGCAGGGTGTGGGCCGCCTCGAGTGCCCGCCAGC GCCCTAGTGCAGGGTGTGGGCTGCCTCGAGTGCCCGCCAGC < 41bp 0.484847168501928 0.70840286809878 0.28974164 0.3249413 prediction 0.416805736197559 Functional Gain - SLC52A2 ENSG00000185803 CDS Human protein_coding chr8:145583656 chr8:145583657 nonsynonymous SNV 0.682 1 22 hm5C_associated_SNPs_125462 1 Likely pathogenic Brown-Vialetto-Van Laere syndrome 2 RCV000193941.1
3875 chr1 10684462 10684462 1 + C T SKCM 10684461 + 10684441 10684481 41 ATTCAGCAGCAGCAGAAGATCCAGGAGCTTGCCCACGAGCT ATTCAGCAGCAGCAGAAGATCTAGGAGCTTGCCCACGAGCT < 41bp 0.621693347620622 0.830039654979675 0.8556634 0.43275827 prediction 0.416692614718106 Functional Gain - PEX14 ENSG00000142655 CDS Human protein_coding chr1:10684461 chr1:10684462 stopgain 0.999 1 22 hm5C_associated_SNPs_125490 1 Pathogenic Peroxisome biogenesis disorder 13A RCV000008140.3
3875 chr8 19824237 19824237 1 + T C rs58998793 19824235 + 19824215 19824255 41 ATGTCGGAGTAGAAATTGTTCCTGATGTGCCAGAACTTCGA ATGTCGGAGTAGAAATTGTTCCCGATGTGCCAGAACTTCGA < 41bp 0.538640294167372 0.746854099730552 0.12163988 0.106479585 prediction 0.416427611126359 Functional Gain - LPL ENSG00000175445 UTR3 Human protein_coding chr8:19824235 chr8:19824237 . . 0 23 hm5C_associated_SNPs_125560 1 Likely benign Hyperlipoproteinemia, type I RCV000338425.1
3875 chr4 169799448 169799448 1 + A G rs62333013 169799445 + 169799425 169799465 41 CGCCTGCCACCCGCTTCGGCCACAGCCAGACGCCCGCGGCC CGCCTGCCACCCGCTTCGGCCACGGCCAGACGCCCGCGGCC < 41bp 0.458747561586644 0.708153623591717 0.8486637 0.89813757 prediction 0.416307247183434 Functional Gain - PALLD ENSG00000129116 CDS Human protein_coding chr4:169799445 chr4:169799448 nonsynonymous SNV 0.971 0 24 hm5C_associated_SNPs_125589 1 Benign not specified RCV000456012.1
3875 chr22 50962127 50962127 1 + C T HNSC 50962126 + 50962106 50962146 41 TCTGCTCCGGCCGTAGTAATCCGTGAAGAGGCCGTCAGGGT TCTGCTCCGGCCGTAGTAATCTGTGAAGAGGCCGTCAGGGT < 41bp 0.589475000167392 0.797593473702773 0.51846874 0.377754 prediction 0.416236947070761 Functional Gain - SCO2 ENSG00000130489 CDS Human protein_coding chr22:50962126 chr22:50962127 synonymous SNV . 0 22 hm5C_associated_SNPs_125606 1 Likely benign not specified RCV000421533.1
3875 chr5 169446041 169446041 1 + C T SARC 169446040 + 169446020 169446060 41 CTTATCCCTGAGGCTGAGCTCCGGAAAGCCACCATACCAAT CTTATCCCTGAGGCTGAGCTCTGGAAAGCCACCATACCAAT < 41bp 0.466749693323483 0.708116552208725 0.2521746 0.14920783 prediction 0.41623310441745 Functional Gain - DOCK2 ENSG00000134516 CDS Human protein_coding chr5:169446040 chr5:169446041 nonsynonymous SNV 0.994 4 22 hm5C_associated_SNPs_125607 1 Pathogenic Immunodeficiency 40 RCV000180782.3
3875 chr2 44539773 44539773 1 + T C rs144162964 44539770 + 44539750 44539790 41 TGACTTCGCGTTTGGGGAATCAGTATGTCAACGTGATGAAC TGACTTCGCGTTTGGGGAATCAGCATGTCAACGTGATGAAC < 41bp 0.546110017545408 0.754123831898955 0.23246738 0.3678748 prediction 0.416027628707095 Functional Gain - SLC3A1 ENSG00000138079 CDS Human protein_coding chr2:44539770 chr2:44539773 nonsynonymous SNV 0.758 4 24 hm5C_associated_SNPs_125653 1 Uncertain significance not specified RCV000319754.1
3875 chr4 664087 664087 1 + C A rs111449765 664086 + 664066 664106 41 CTGTCACCCAGGCTGGAGTGCCGTGGCACGATCTCAGCTCA CTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCA < 41bp 0.449313271801155 0.707903733749584 0.20395347 0.3250017 prediction 0.415807467499169 Functional Gain - PDE6B ENSG00000133256 UTR3 Human protein_coding chr4:664086 chr4:664087 . . 0 22 hm5C_associated_SNPs_125715 2 Benign Retinitis Pigmentosa, Recessive RCV000323796.1
3875 chr4 664087 664087 1 + C A rs111449765 664086 + 664066 664106 41 CTGTCACCCAGGCTGGAGTGCCGTGGCACGATCTCAGCTCA CTGTCACCCAGGCTGGAGTGCAGTGGCACGATCTCAGCTCA < 41bp 0.449313271801155 0.707903733749584 0.20395347 0.3250017 prediction 0.415807467499169 Functional Gain - PDE6B ENSG00000133256 UTR3 Human protein_coding chr4:664086 chr4:664087 . . 0 22 hm5C_associated_SNPs_125715 2 Benign Congenital Stationary Night Blindness, Dominant RCV000359830.1
3875 chr9 71842927 71842927 1 + C T rs17062723 71842926 + 71842906 71842946 41 GGACACGCCGAGCAGATTGTCCAGGATGGGTGCGACACCCA GGACACGCCGAGCAGATTGTCTAGGATGGGTGCGACACCCA < 41bp 0.453998645711969 0.707713262141793 0.21715993 0.27279198 prediction 0.415426524283586 Functional Gain - TJP2 ENSG00000119139 CDS Human protein_coding chr9:71842926 chr9:71842927 synonymous SNV . 0 22 hm5C_associated_SNPs_125824 2 Benign not specified RCV000152020.2
3875 chr9 71842927 71842927 1 + C T rs17062723 71842926 + 71842906 71842946 41 GGACACGCCGAGCAGATTGTCCAGGATGGGTGCGACACCCA GGACACGCCGAGCAGATTGTCTAGGATGGGTGCGACACCCA < 41bp 0.453998645711969 0.707713262141793 0.21715993 0.27279198 prediction 0.415426524283586 Functional Gain - TJP2 ENSG00000119139 CDS Human protein_coding chr9:71842926 chr9:71842927 synonymous SNV . 0 22 hm5C_associated_SNPs_125824 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000308721.1
3875 chr7 127895830 127895830 1 + C G rs151325384 127895829 + 127895809 127895849 41 TGAGGCCTGGCCAGGCACCCCCTGGAGAGAAGTTTCTGGCC TGAGGCCTGGCCAGGCACCCCGTGGAGAGAAGTTTCTGGCC < 41bp 0.407506500318732 0.707662180926261 0.34305227 0.67217594 prediction 0.415324361852522 Functional Gain - LEP ENSG00000174697 UTR3 Human protein_coding chr7:127895829 chr7:127895830 . . 0 22 hm5C_associated_SNPs_125843 2 Uncertain significance Leptin deficiency or dysfunction RCV000305209.1
3875 chr7 127895830 127895830 1 + C G rs151325384 127895829 + 127895809 127895849 41 TGAGGCCTGGCCAGGCACCCCCTGGAGAGAAGTTTCTGGCC TGAGGCCTGGCCAGGCACCCCGTGGAGAGAAGTTTCTGGCC < 41bp 0.407506500318732 0.707662180926261 0.34305227 0.67217594 prediction 0.415324361852522 Functional Gain - LEP ENSG00000174697 UTR3 Human protein_coding chr7:127895829 chr7:127895830 . . 0 22 hm5C_associated_SNPs_125843 2 Uncertain significance Monogenic Non-Syndromic Obesity RCV000398981.1
3875 chr4 5814464 5814464 1 + C T rs74690944 5814463 + 5814443 5814483 41 TCTTCAGGGGAAGGAGCTGCCCAGAGCATCACAGGATGTTC TCTTCAGGGGAAGGAGCTGCCTAGAGCATCACAGGATGTTC < 41bp 0.539024193551737 0.746419401739999 0.2630452 0.2814041 prediction 0.414790416376525 Functional Gain - EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814463 chr4:5814464 . . 0 22 hm5C_associated_SNPs_125972 2 Likely benign Ellis-van Creveld Syndrome RCV000298511.1
3875 chr4 5814464 5814464 1 + C T rs74690944 5814463 + 5814443 5814483 41 TCTTCAGGGGAAGGAGCTGCCCAGAGCATCACAGGATGTTC TCTTCAGGGGAAGGAGCTGCCTAGAGCATCACAGGATGTTC < 41bp 0.539024193551737 0.746419401739999 0.2630452 0.2814041 prediction 0.414790416376525 Functional Gain - EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814463 chr4:5814464 . . 0 22 hm5C_associated_SNPs_125972 2 Likely benign Curry-Hall syndrome RCV000396624.1
3875 chr9 100234702 100234702 1 + A G rs115297535 100234699 + 100234679 100234719 41 CTTGTTGTTCTGTACGATACCTCAGGAGAAGATGATATCAA CTTGTTGTTCTGTACGATACCTCGGGAGAAGATGATATCAA < 41bp 0.581392944802788 0.788629012166057 0.0042686164 0.0036164224 prediction 0.414472134726538 Functional Gain - TDRD7 ENSG00000196116 CDS Human protein_coding chr9:100234699 chr9:100234702 synonymous SNV . 0 24 hm5C_associated_SNPs_126045 1 Likely benign Congenital cataract RCV000333371.1
3875 chr1 150482172 150482172 1 + C T STAD 150482171 + 150482151 150482191 41 CCCCCCTCCCCACCCCTATCCCGAAGCCTCCCCATGGATCA CCCCCCTCCCCACCCCTATCCTGAAGCCTCCCCATGGATCA < 41bp 0.582911843343431 0.789935421430469 0.5065792 0.12471089 prediction 0.414047156174077 Functional Gain - ECM1 ENSG00000143369 CDS Human protein_coding chr1:150482171 chr1:150482172 stopgain 0.007 0 22 hm5C_associated_SNPs_126175 1 Pathogenic Lipid proteinosis RCV000007901.2
3875 chr6 43584735 43584735 1 + T C rs182931718 43584733 + 43584713 43584753 41 AGTCAGGAGTTCAAGACAAGCATGGCCAACATGGCGAAACC AGTCAGGAGTTCAAGACAAGCACGGCCAACATGGCGAAACC < 41bp 0.503848255647446 0.710844843868842 0.47797248 0.35046285 prediction 0.413993176442792 Functional Gain - POLH ENSG00000170734;ENSG00000172432 intronic Human other chr6:43584733 chr6:43584735 . . 0 23 hm5C_associated_SNPs_126194 1 Uncertain significance Xeroderma pigmentosum RCV000332611.1
3875 chr16 50745655 50745655 1 + C T rs61736932 50745654 + 50745634 50745674 41 CACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCA CACTTTCCAGTGCTTCTTTGCTGCGTTCTACCTGGCACTCA < 41bp 0.461926465358529 0.706866124103917 0.31091687 0.04203567 prediction 0.413732248207834 Functional Gain - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745654 chr16:50745655 synonymous SNV . 0 22 hm5C_associated_SNPs_126255 2 Likely benign Crohn disease RCV000325625.1
3875 chr16 50745655 50745655 1 + C T rs61736932 50745654 + 50745634 50745674 41 CACTTTCCAGTGCTTCTTTGCCGCGTTCTACCTGGCACTCA CACTTTCCAGTGCTTCTTTGCTGCGTTCTACCTGGCACTCA < 41bp 0.461926465358529 0.706866124103917 0.31091687 0.04203567 prediction 0.413732248207834 Functional Gain - NOD2 ENSG00000167207 CDS Human protein_coding chr16:50745654 chr16:50745655 synonymous SNV . 0 22 hm5C_associated_SNPs_126255 2 Likely benign Blau syndrome RCV000382617.1
3875 chr22 21213632 21213632 1 + C G rs144160898 21213628 + 21213608 21213648 41 CGAGAAGGTTGGGGTCGCCTCTTCCGAGGTGAGCCTGGGGC CGAGAAGGTTGGGGTCGCCTCTTCGGAGGTGAGCCTGGGGC < 41bp 0.4215981658239 0.706848061719713 0.09244743 0.20749417 prediction 0.413696123439427 Functional Gain - SNAP29 ENSG00000099940 CDS Human protein_coding chr22:21213628 chr22:21213632 synonymous SNV . 0 25 hm5C_associated_SNPs_126270 1 Uncertain significance Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000307751.1
3875 chr20 45362986 45362986 1 + T C rs111352987 45362984 + 45362964 45363004 41 GTTGCCCAGGCTGGCCTGATCTTGGCTCACTGCAACCTCCA GTTGCCCAGGCTGGCCTGATCTCGGCTCACTGCAACCTCCA < 41bp 0.516414682239368 0.723241420336609 0.22218925 0.6956056 prediction 0.413653476194483 Functional Gain - SLC2A10 ENSG00000197496 UTR3 Human protein_coding chr20:45362984 chr20:45362986 . . 0 23 hm5C_associated_SNPs_126282 1 Uncertain significance Arterial tortuosity syndrome RCV000308462.1
3875 chr5 179264132 179264132 1 + T G rs1060271 179264128 + 179264108 179264148 41 GTTTCACTGAGAGCTGCCTCCTGGTCTCTTCACCACTGTAG GTTTCACTGAGAGCTGCCTCCTGGGCTCTTCACCACTGTAG < 41bp 0.532661401655299 0.739432376150221 0.09488419 0.20477933 prediction 0.413541948989844 Functional Gain - SQSTM1 ENSG00000161010;ENSG00000161011 UTR3 Human other chr5:179264128 chr5:179264132 . . 0 25 hm5C_associated_SNPs_126320 1 Likely benign Paget disease of bone RCV000394807.1
3875 chr2 74757613 74757613 1 + C G rs2231248 74757612 + 74757592 74757632 41 GGTGGAGAAGACAGCACCTGCCGTGGTCTATATCGAGATCC GGTGGAGAAGACAGCACCTGCGGTGGTCTATATCGAGATCC < 41bp 0.391193902895538 0.70666073531361 0.37738615 0.37562644 prediction 0.41332147062722 Functional Gain - HTRA2 ENSG00000115317 CDS Human protein_coding chr2:74757612 chr2:74757613 synonymous SNV . 0 22 hm5C_associated_SNPs_126374 1 Likely benign Parkinson Disease, Dominant RCV000399375.1
3875 chr10 69961644 69961644 1 + C T LUAD 69961643 + 69961623 69961663 41 ACTACAGAACTGCGGTGTTCCCGAAGGCCACCCCGTGAGAC ACTACAGAACTGCGGTGTTCCTGAAGGCCACCCCGTGAGAC < 41bp 0.630235952305119 0.836773991989427 0.88981164 0.38392124 prediction 0.413076079368616 Functional Gain - MYPN ENSG00000138347 CDS Human protein_coding chr10:69961643 chr10:69961644 synonymous SNV . 0 22 hm5C_associated_SNPs_126447 1 Likely benign not specified RCV000435729.1
3875 chr16 29824987 29824987 1 + C G rs149260055 29824983 + 29824963 29825003 41 AGCCCCTGAGCCTCACTCACCACCCTCAAAAAAATCCCCCC AGCCCCTGAGCCTCACTCACCACCGTCAAAAAAATCCCCCC < 41bp 0.410542627205415 0.706210141337332 0.080182254 0.11320871 prediction 0.412420282674664 Functional Gain - PRRT2 ENSG00000167371 CDS Human protein_coding chr16:29824983 chr16:29824987 synonymous SNV . 0 25 hm5C_associated_SNPs_126612 2 other not specified RCV000127621.4
3875 chr16 29824987 29824987 1 + C G rs149260055 29824983 + 29824963 29825003 41 AGCCCCTGAGCCTCACTCACCACCCTCAAAAAAATCCCCCC AGCCCCTGAGCCTCACTCACCACCGTCAAAAAAATCCCCCC < 41bp 0.410542627205415 0.706210141337332 0.080182254 0.11320871 prediction 0.412420282674664 Functional Gain - PRRT2 ENSG00000167371 CDS Human protein_coding chr16:29824983 chr16:29824987 synonymous SNV . 0 25 hm5C_associated_SNPs_126612 2 Benign Dystonia 10 RCV000471881.1
3875 chr18 72999563 72999563 1 + T C rs113033195 72999561 + 72999541 72999581 41 TGTAACAACCTGGGGATCATCATGGACCACTCACCGGAGCC TGTAACAACCTGGGGATCATCACGGACCACTCACCGGAGCC < 41bp 0.638895138387376 0.845086744551859 0.3826997 0.38067633 prediction 0.412383212328966 Functional Gain - TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72999561 chr18:72999563 nonsynonymous SNV 0.193 0 23 hm5C_associated_SNPs_126625 1 Likely benign Aural atresia, congenital RCV000354796.1
3875 chr20 61468607 61468607 1 + C T rs138477294 61468606 + 61468586 61468626 41 CACTGGGGAGCTGGGAGACCCCGGGCCCAGAGGTGAGTGTT CACTGGGGAGCTGGGAGACCCTGGGCCCAGAGGTGAGTGTT < 41bp 0.470482777285864 0.705958182424767 0.9052148 0.8878078 prediction 0.411916364849534 Functional Gain - COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61468606 chr20:61468607 synonymous SNV . 0 22 hm5C_associated_SNPs_126744 1 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000367330.1
3875 chr16 89986303 89986303 1 + C T STAD 89986302 + 89986282 89986322 41 CTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCA CTGTACGTCCACATGCTGGCCTGGGCCTGCCAGCACGCCCA < 41bp 0.489146148873595 0.7056569102087 0.40054128 0.52101225 prediction 0.4113138204174 Functional Gain - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986302 chr16:89986303 nonsynonymous SNV 0.000 1 22 hm5C_associated_SNPs_126882 2 Likely benign Malignant Melanoma Susceptibility RCV000328171.1
3875 chr16 89986303 89986303 1 + C T STAD 89986302 + 89986282 89986322 41 CTGTACGTCCACATGCTGGCCCGGGCCTGCCAGCACGCCCA CTGTACGTCCACATGCTGGCCTGGGCCTGCCAGCACGCCCA < 41bp 0.489146148873595 0.7056569102087 0.40054128 0.52101225 prediction 0.4113138204174 Functional Gain - MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89986302 chr16:89986303 nonsynonymous SNV 0.000 1 22 hm5C_associated_SNPs_126882 2 Uncertain significance Cutaneous malignant melanoma 5 RCV000476253.1
3875 chr21 44589369 44589369 1 + C T LUSC 44589368 + 44589348 44589388 41 TACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGG TACTACCGCCAGTCCCTCTTCTGCACCGTGCTGGACTCCGG < 41bp 0.619344434533713 0.824903538219791 0.26892614 0.23357534 prediction 0.411118207372154 Functional Gain - CRYAA;LOC102724652 ENSG00000160202 CDS Human protein_coding chr21:44589368 chr21:44589369 nonsynonymous SNV 0.998 5 22 hm5C_associated_SNPs_126938 2 Pathogenic Cataract, autosomal dominant RCV000059326.28
3875 chr21 44589369 44589369 1 + C T LUSC 44589368 + 44589348 44589388 41 TACTACCGCCAGTCCCTCTTCCGCACCGTGCTGGACTCCGG TACTACCGCCAGTCCCTCTTCTGCACCGTGCTGGACTCCGG < 41bp 0.619344434533713 0.824903538219791 0.26892614 0.23357534 prediction 0.411118207372154 Functional Gain - CRYAA;LOC102724652 ENSG00000160202 CDS Human protein_coding chr21:44589368 chr21:44589369 nonsynonymous SNV 0.998 5 22 hm5C_associated_SNPs_126938 2 Pathogenic Congenital cataract RCV000490766.1
3875 chr2 220312864 220312864 1 + C T rs187565836 220312863 + 220312843 220312883 41 GCCGGGACCCCCGGCCCAGCCCGCGGCCACCCCCACGTCGC GCCGGGACCCCCGGCCCAGCCTGCGGCCACCCCCACGTCGC < 41bp 0.559956506085 0.765376787213431 0.7952745 0.8186606 prediction 0.410840562256863 Functional Gain - SPEG ENSG00000072195 CDS Human protein_coding chr2:220312863 chr2:220312864 synonymous SNV . 0 22 hm5C_associated_SNPs_127009 1 Benign not specified RCV000284227.1
3875 chr8 19823269 19823269 1 + C T rs191212278 19823268 + 19823248 19823288 41 AGAATACAGAAAATGCTTTTCCGCGGCACGAATCAGACTCA AGAATACAGAAAATGCTTTTCTGCGGCACGAATCAGACTCA < 41bp 0.504940874941432 0.710336530766923 0.24480653 0.15052646 prediction 0.410791311650981 Functional Gain - LPL ENSG00000175445 UTR3 Human protein_coding chr8:19823268 chr8:19823269 . . 0 22 hm5C_associated_SNPs_127026 1 Uncertain significance Hyperlipoproteinemia, type I RCV000307917.1
3875 chr17 26724898 26724898 1 + T C rs2239909 26724901 - 26724881 26724921 41 ACTAGGAGTCACCTGGCCAGCACAGCCAAGAGTGGGGCTGG ACTAGGAGTCACCTGGCCAGCACGGCCAAGAGTGGGGCTGG < 41bp 0.583098712053756 0.78838556596527 0.17926043 0.17392036 prediction 0.410573707823028 Functional Gain - SARM1;SLC46A1 ENSG00000004139;ENSG00000076351 UTR3 Human other chr17:26724901 chr17:26724898 . . 0 24 hm5C_associated_SNPs_127078 1 Uncertain significance Congenital defect of folate absorption RCV000313200.1
3875 chr8 11406593 11406593 1 + T C rs3816668 11406590 + 11406570 11406610 41 GGAAGAGAAGGCTATGTGCCCAGTAACTTTGTGGCCCGAGT GGAAGAGAAGGCTATGTGCCCAGCAACTTTGTGGCCCGAGT < 41bp 0.576267286850234 0.78151828000725 0.28210813 0.3320865 prediction 0.410501986314032 Functional Gain - BLK ENSG00000136573 CDS Human protein_coding chr8:11406590 chr8:11406593 synonymous SNV . 0 24 hm5C_associated_SNPs_127102 2 other not specified RCV000116498.3
3875 chr8 11406593 11406593 1 + T C rs3816668 11406590 + 11406570 11406610 41 GGAAGAGAAGGCTATGTGCCCAGTAACTTTGTGGCCCGAGT GGAAGAGAAGGCTATGTGCCCAGCAACTTTGTGGCCCGAGT < 41bp 0.576267286850234 0.78151828000725 0.28210813 0.3320865 prediction 0.410501986314032 Functional Gain - BLK ENSG00000136573 CDS Human protein_coding chr8:11406590 chr8:11406593 synonymous SNV . 0 24 hm5C_associated_SNPs_127102 2 Benign Maturity-onset diabetes of the young RCV000281850.1
3875 chr7 73472000 73472000 1 + A G rs34945509 73471997 + 73471977 73472017 41 GACCCCAGCAGCTGCAGCTGCTAAAGCAGCCGCCAAAGCCG GACCCCAGCAGCTGCAGCTGCTAGAGCAGCCGCCAAAGCCG < 41bp 0.582466343034643 0.787634625751391 0.4728876 0.55035645 prediction 0.410336565433495 Functional Gain - ELN ENSG00000049540 CDS Human protein_coding chr7:73471997 chr7:73472000 nonsynonymous SNV 0.987 0 24 hm5C_associated_SNPs_127132 1 Benign Supravalvar aortic stenosis RCV000462247.1
3875 chr11 61159969 61159969 1 + T C rs183785901 61159967 + 61159947 61159987 41 GGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTC GGACATCCGAGCGAGGGCCACTCGCGGCCAGGCCCGAGCTC < 41bp 0.519667205890749 0.72470813883333 0.3436392 0.36394364 prediction 0.410081865885162 Functional Gain - TMEM216 ENSG00000187049 UTR5 Human protein_coding chr11:61159967 chr11:61159969 . . 0 23 hm5C_associated_SNPs_127196 2 Uncertain significance Joubert syndrome RCV000309701.1
3875 chr11 61159969 61159969 1 + T C rs183785901 61159967 + 61159947 61159987 41 GGACATCCGAGCGAGGGCCACTTGCGGCCAGGCCCGAGCTC GGACATCCGAGCGAGGGCCACTCGCGGCCAGGCCCGAGCTC < 41bp 0.519667205890749 0.72470813883333 0.3436392 0.36394364 prediction 0.410081865885162 Functional Gain - TMEM216 ENSG00000187049 UTR5 Human protein_coding chr11:61159967 chr11:61159969 . . 0 23 hm5C_associated_SNPs_127196 2 Uncertain significance Meckel-Gruber syndrome RCV000359657.1
3875 chr17 45018321 45018321 1 + C A rs565638240 45018317 + 45018297 45018337 41 CTTGGCCTAACAGTGTGACTCTCTCCACCGCCTCAGTGTAG CTTGGCCTAACAGTGTGACTCTCTACACCGCCTCAGTGTAG < 41bp 0.335080404210346 0.704941428143764 0.86305875 0.8607922 prediction 0.409882856287528 Functional Gain - GOSR2 ENSG00000108433;ENSG00000262633 intronic Human other chr17:45018317 chr17:45018321 . . 0 25 hm5C_associated_SNPs_127248 1 Uncertain significance Progressive myoclonic epilepsy RCV000346352.1
3875 chr19 7711208 7711208 1 + C T SARC 7711207 + 7711187 7711227 41 ATCAGCTGTCCCGCTGGACCCCGGTCATCAAGGATGTAATG ATCAGCTGTCCCGCTGGACCCTGGTCATCAAGGATGTAATG < 41bp 0.47003943891281 0.704541909107371 0.072814316 0.020715863 prediction 0.409083818214741 Functional Gain - STXBP2 ENSG00000076944 CDS Human protein_coding chr19:7711207 chr19:7711208 nonsynonymous SNV 0.337 5 22 hm5C_associated_SNPs_127482 1 Pathogenic Hemophagocytic lymphohistiocytosis, familial, 5 RCV000008308.2
3875 chr15 85402488 85402488 1 + C T rs201413329 85402487 + 85402467 85402507 41 CTCTCAGCCCCACAGGTGATCCGGAAGATTCGGGTGGAGCA CTCTCAGCCCCACAGGTGATCTGGAAGATTCGGGTGGAGCA < 41bp 0.452016292071368 0.704461619564667 0.92370045 0.8745588 prediction 0.408923239129334 Functional Gain - ALPK3 ENSG00000136383 CDS Human protein_coding chr15:85402487 chr15:85402488 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_127516 1 Uncertain significance not specified RCV000490120.1
3875 chr2 219754816 219754816 1 + C T COAD 219754815 + 219754795 219754835 41 GCCTGTGGCTGTGATGCGTCCCGGCGAGGGGACGAGGAGGC GCCTGTGGCTGTGATGCGTCCTGGCGAGGGGACGAGGAGGC < 41bp 0.455146090728856 0.70424947453316 0.4879687 0.1815984 prediction 0.40849894906632 Functional Gain - WNT10A ENSG00000135925 CDS Human protein_coding chr2:219754815 chr2:219754816 nonsynonymous SNV 0.135 4 22 hm5C_associated_SNPs_127631 1 Uncertain significance Exstrophy of the bladder RCV000172902.1
3875 chr1 196953266 196953266 1 + T C rs140215003 196953263 + 196953243 196953283 41 ACTCCTCCCATATGCAGCTTCACTAGTAAGCAAAATACCAC ACTCCTCCCATATGCAGCTTCACCAGTAAGCAAAATACCAC < 41bp 0.533350215985069 0.737555538240664 0.037767142 0.036331713 prediction 0.408410644511191 Functional Gain - CFHR5 ENSG00000134389 CDS Human protein_coding chr1:196953263 chr1:196953266 synonymous SNV . 0 24 hm5C_associated_SNPs_127649 1 Uncertain significance Mesangiocapillary glomerulonephritis, type II RCV000376793.1
3875 chr6 107956095 107956095 1 + A G rs9486659 107956092 + 107956072 107956112 41 ACGTCAAGGCGGAGCGCGAGCCGAGCGCCGCGGAGCGCAGG ACGTCAAGGCGGAGCGCGAGCCGGGCGCCGCGGAGCGCAGG < 41bp 0.621601214517016 0.825798764133186 0.68830955 0.9068381 prediction 0.40839509923234 Functional Gain - SOBP ENSG00000112320 CDS Human protein_coding chr6:107956092 chr6:107956095 nonsynonymous SNV 0.963 0 24 hm5C_associated_SNPs_127656 1 Benign not specified RCV000118399.1
3875 chr17 61558951 61558951 1 + C T rs35141294 61558950 + 61558930 61558970 41 TGGAACGCCACGCACATGTTCCGGGTGGCAGAGGAGTTCTT TGGAACGCCACGCACATGTTCTGGGTGGCAGAGGAGTTCTT < 41bp 0.46653949288789 0.704057906043242 0.89444315 0.71479386 prediction 0.408115812086485 Functional Gain - ACE ENSG00000159640 CDS Human protein_coding chr17:61558950 chr17:61558951 nonsynonymous SNV 1.000 3 22 hm5C_associated_SNPs_127730 1 Uncertain significance Renal dysplasia RCV000291359.1
3875 chr17 1630130 1630130 1 + C T rs148644987 1630129 + 1630109 1630149 41 GGGAGGACTTCACGGAAAACCCGGGACAGCTTCCAAATGGA GGGAGGACTTCACGGAAAACCTGGGACAGCTTCCAAATGGA < 41bp 0.485306701015034 0.703920135551007 0.8916421 0.8801775 prediction 0.407840271102013 Functional Gain - WDR81 ENSG00000167716 CDS Human protein_coding chr17:1630129 chr17:1630130 nonsynonymous SNV 0.003 0 22 hm5C_associated_SNPs_127799 1 Likely benign not provided RCV000431263.1
3875 chr16 2551348 2551348 1 + C A rs189378766 2551344 + 2551324 2551364 41 GAGTACAACGGCAGTGGGAACGTGCAGCTAAGGGTGGGCCT GAGTACAACGGCAGTGGGAACGTGAAGCTAAGGGTGGGCCT < 41bp 0.328646185866916 0.703884661586509 0.722022 0.8386632 prediction 0.407769323173018 Functional Gain - TBC1D24 ENSG00000162065 UTR3 Human protein_coding chr16:2551344 chr16:2551348 . . 0 25 hm5C_associated_SNPs_127820 1 Likely benign Myoclonic epilepsy, familial infantile RCV000395938.1
3875 chr12 121434401 121434401 1 + T G rs115080759 121434397 + 121434377 121434417 41 AGCACCCTGACAGCACTGCACAGCTTGGAGCAGACATCCCC AGCACCCTGACAGCACTGCACAGCGTGGAGCAGACATCCCC < 41bp 0.515450235420421 0.719238797168285 0.09991649 0.2124128 prediction 0.407577123495728 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121434397 chr12:121434401 nonsynonymous SNV 1.000 1 25 hm5C_associated_SNPs_127861 2 not provided not specified RCV000121197.1
3875 chr12 121434401 121434401 1 + T G rs115080759 121434397 + 121434377 121434417 41 AGCACCCTGACAGCACTGCACAGCTTGGAGCAGACATCCCC AGCACCCTGACAGCACTGCACAGCGTGGAGCAGACATCCCC < 41bp 0.515450235420421 0.719238797168285 0.09991649 0.2124128 prediction 0.407577123495728 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121434397 chr12:121434401 nonsynonymous SNV 1.000 1 25 hm5C_associated_SNPs_127861 2 Likely benign Monogenic diabetes RCV000445458.1
3875 chr2 71163111 71163111 1 + T C rs17853498 71163109 + 71163089 71163129 41 CCATGGAGATAGACAGCAGGCCTGGGGGGCTCCCCGGCAGT CCATGGAGATAGACAGCAGGCCCGGGGGGCTCCCCGGCAGT < 41bp 0.590647707636827 0.794411315777254 0.8845248 0.82935846 prediction 0.407527216280853 Functional Gain - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163109 chr2:71163111 synonymous SNV . 0 23 hm5C_associated_SNPs_127870 2 Benign not specified RCV000037206.2
3875 chr2 71163111 71163111 1 + T C rs17853498 71163109 + 71163089 71163129 41 CCATGGAGATAGACAGCAGGCCTGGGGGGCTCCCCGGCAGT CCATGGAGATAGACAGCAGGCCCGGGGGGCTCCCCGGCAGT < 41bp 0.590647707636827 0.794411315777254 0.8845248 0.82935846 prediction 0.407527216280853 Functional Gain - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163109 chr2:71163111 synonymous SNV . 0 23 hm5C_associated_SNPs_127870 2 Benign Renal tubular acidosis with progressive nerve deafness RCV000404834.1
3875 chr2 234237188 234237188 1 + C T PRAD 234237187 + 234237167 234237207 41 CTTGAGATGGGTCCCCAGCCCCGAGCTGAGGCGGCCTGGCA CTTGAGATGGGTCCCCAGCCCTGAGCTGAGGCGGCCTGGCA < 41bp 0.620349009395567 0.824075577744629 0.17734906 0.15751544 prediction 0.407453136698125 Functional Gain - SAG ENSG00000130561 CDS Human protein_coding chr2:234237187 chr2:234237188 stopgain 0.233 0 22 hm5C_associated_SNPs_127889 1 Pathogenic Oguchi's disease RCV000034821.23
3875 chr1 46685792 46685792 1 + A G rs62620990 46685794 - 46685774 46685814 41 TGGTGACTCAGGTGGTCCACCTTGAAGCCTCTCCCCTGGGG TGGTGACTCAGGTGGTCCACCTCGAAGCCTCTCCCCTGGGG < 41bp 0.632414020315542 0.836012146609908 0.2825789 0.7335222 prediction 0.407196252588733 Functional Gain - LURAP1 ENSG00000171357 CDS Human protein_coding chr1:46685794 chr1:46685792 nonsynonymous SNV 0.989 0 23 hm5C_associated_SNPs_127956 1 Benign not specified RCV000455955.1
3875 chr2 71730372 71730372 1 + C T CESC 71730371 + 71730351 71730391 41 GGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCC GGGGAAGCCAAGGTCCCACTCTGAGAGGTCCTCGCCACCCC < 41bp 0.552005968709226 0.755582716397396 0.9150995 0.87223524 prediction 0.407153495376338 Functional Gain - DYSF ENSG00000135636 CDS Human protein_coding chr2:71730371 chr2:71730372 stopgain 0.965 0 22 hm5C_associated_SNPs_127970 2 Pathogenic Miyoshi muscular dystrophy 1 RCV000178194.1
3875 chr2 71730372 71730372 1 + C T CESC 71730371 + 71730351 71730391 41 GGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCC GGGGAAGCCAAGGTCCCACTCTGAGAGGTCCTCGCCACCCC < 41bp 0.552005968709226 0.755582716397396 0.9150995 0.87223524 prediction 0.407153495376338 Functional Gain - DYSF ENSG00000135636 CDS Human protein_coding chr2:71730371 chr2:71730372 stopgain 0.965 0 22 hm5C_associated_SNPs_127970 2 Pathogenic Limb-girdle muscular dystrophy, type 2B RCV000178195.1
3875 chr19 917526 917526 1 + A G rs10407968 917523 + 917503 917543 41 ATGCACACCGTGGCTACGTCCGGACCCAACGCGTCCTGGGG ATGCACACCGTGGCTACGTCCGGGCCCAACGCGTCCTGGGG < 41bp 0.620942634558344 0.82447334480031 0.42601693 0.9076363 prediction 0.407061420483932 Functional Gain - KISS1R ENSG00000116014 CDS Human protein_coding chr19:917523 chr19:917526 synonymous SNV . 0 24 hm5C_associated_SNPs_127990 1 Benign not specified RCV000371565.1
3875 chr1 76190331 76190331 1 + C G rs61124994 76190327 + 76190307 76190347 41 GCCTAGCGCAGCGCCCCGTCCTTCCGCAGCCCAACCGCCTC GCCTAGCGCAGCGCCCCGTCCTTCGGCAGCCCAACCGCCTC < 41bp 0.616976505525421 0.820457033795777 0.09622106 0.10716662 prediction 0.406961056540712 Functional Gain - ACADM ENSG00000117054 UTR5 Human protein_coding chr1:76190327 chr1:76190331 . . 0 25 hm5C_associated_SNPs_128013 1 Likely benign Medium-chain acyl-coenzyme A dehydrogenase deficiency RCV000291725.1
3875 chrX 123480419 123480419 1 + T A rs142160401 123480415 + 123480395 123480435 41 ACTGGGAGTCAGGTGGTTGACTTGTGCCTGGCTGCAGTAGC ACTGGGAGTCAGGTGGTTGACTTGAGCCTGGCTGCAGTAGC < 41bp 0.559018642580483 0.762396237896363 0.21462479 0.56047744 prediction 0.40675519063176 Functional Gain - SH2D1A ENSG00000183918 UTR5 Human protein_coding chrX:123480415 chrX:123480419 . . 0 25 hm5C_associated_SNPs_128072 1 Likely benign Lymphoproliferative syndrome RCV000365081.1
3875 chr22 32198757 32198757 1 + C T UCEC 32198756 + 32198736 32198776 41 GATGTCAGTGGTGATCACGCCCGGGGTGGGTGTCTTTGAAG GATGTCAGTGGTGATCACGCCTGGGGTGGGTGTCTTTGAAG < 41bp 0.588345517233896 0.791615554626905 0.8356394 0.86205506 prediction 0.406540074786018 Functional Gain - DEPDC5 ENSG00000100150 CDS Human protein_coding chr22:32198756 chr22:32198757 synonymous SNV . 0 22 hm5C_associated_SNPs_128124 1 Likely benign Epilepsy, familial focal, with variable foci 1 RCV000462775.1
3875 chr3 122003194 122003194 1 + C T GBM 122003193 + 122003173 122003213 41 CCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCC CCTTCAAGTCCCGGAAGCTGCTGGAGAACTTCAATGAAGCC < 41bp 0.620084466193004 0.82334677597051 0.2561147 0.16279009 prediction 0.406524619555011 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003193 chr3:122003194 nonsynonymous SNV 0.985 5 22 hm5C_associated_SNPs_128132 2 Uncertain significance Hypocalcemia, autosomal dominant 1 RCV000474973.1
3875 chr3 122003194 122003194 1 + C T GBM 122003193 + 122003173 122003213 41 CCTTCAAGTCCCGGAAGCTGCCGGAGAACTTCAATGAAGCC CCTTCAAGTCCCGGAAGCTGCTGGAGAACTTCAATGAAGCC < 41bp 0.620084466193004 0.82334677597051 0.2561147 0.16279009 prediction 0.406524619555011 Functional Gain - CASR ENSG00000036828 CDS Human protein_coding chr3:122003193 chr3:122003194 nonsynonymous SNV 0.985 5 22 hm5C_associated_SNPs_128132 2 Uncertain significance Hypocalciuric hypercalcemia, familial, type 1 RCV000474973.1
3875 chr1 159175494 159175494 1 + C T rs34599082 159175493 + 159175473 159175513 41 ATGCTTTTCAGACCTCTCTTCCGCTGGCAGCTCTGCCCTGG ATGCTTTTCAGACCTCTCTTCTGCTGGCAGCTCTGCCCTGG < 41bp 0.459962483915665 0.703153605882455 0.42980835 0.3658799 prediction 0.40630721176491 Functional Gain - ACKR1 ENSG00000213088 CDS Human protein_coding chr1:159175493 chr1:159175494 nonsynonymous SNV 0.979 1 22 hm5C_associated_SNPs_128190 1 Pathogenic DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE RCV000000009.3
3875 chr16 30198151 30198151 1 + A G rs1132812 30198148 + 30198128 30198168 41 CCTCTGCAGGTGTGGGAGATCCCAGATGGGGGCCTGATGCT CCTCTGCAGGTGTGGGAGATCCCGGATGGGGGCCTGATGCT < 41bp 0.460173172859174 0.703021861143568 0.7623924 0.9033221 prediction 0.406043722287137 Functional Gain - CORO1A ENSG00000102879 CDS Human protein_coding chr16:30198148 chr16:30198151 synonymous SNV . 0 24 hm5C_associated_SNPs_128266 1 Benign not specified RCV000429482.1
3875 chr4 15559074 15559074 1 + C T UCEC 15559073 + 15559053 15559093 41 AGCCAAGAGGTGCCAGAATTCCGAAATTATAAGCAAGTTCC AGCCAAGAGGTGCCAGAATTCTGAAATTATAAGCAAGTTCC < 41bp 0.444808286962129 0.702844570819593 0.3133955 0.27315873 prediction 0.405689141639186 Functional Gain - CC2D2A ENSG00000048342 CDS Human protein_coding chr4:15559073 chr4:15559074 stopgain 0.999 1 22 hm5C_associated_SNPs_128361 1 Likely pathogenic Meckel syndrome type 6 RCV000049712.1
3875 chr5 150647267 150647267 1 + C T rs75026189 150647266 + 150647246 150647286 41 GGGCTGACCACGTTACTCATCCCCGTTAACATTCTCTCTAA GGGCTGACCACGTTACTCATCTCCGTTAACATTCTCTCTAA < 41bp 0.587325711702523 0.790083333048623 0.10813892 0.1650438 prediction 0.4055152426922 Functional Gain - GM2A ENSG00000196743 UTR3 Human protein_coding chr5:150647266 chr5:150647267 . . 0 22 hm5C_associated_SNPs_128420 1 Uncertain significance Tay-Sachs disease, variant AB RCV000273102.1
3875 chr14 29237758 29237758 1 + T C ESCA 29237756 + 29237736 29237776 41 TTTCCCCCACGTCCCGCACCCGTCAATGACTTCGCAGAGCA TTTCCCCCACGTCCCGCACCCGCCAATGACTTCGCAGAGCA < 41bp 0.666796629977659 0.869476094667261 0.07003525 0.4100956 prediction 0.405358929379203 Functional Gain - FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237756 chr14:29237758 nonsynonymous SNV 1.000 2 23 hm5C_associated_SNPs_128475 1 Uncertain significance not specified RCV000187446.2
3875 chr1 160099970 160099970 1 + C T STAD 160099969 + 160099949 160099989 41 GCCCCAGAGCGCATTCTGGACCGGTGCTCCACCATCCTGGT GCCCCAGAGCGCATTCTGGACTGGTGCTCCACCATCCTGGT < 41bp 0.44614952348096 0.702623130477695 0.5300332 0.16782984 prediction 0.40524626095539 Functional Gain - ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160099969 chr1:160099970 nonsynonymous SNV 1.000 4 22 hm5C_associated_SNPs_128501 1 Uncertain significance not specified RCV000423022.1
3875 chr11 34938265 34938265 1 + C T rs2956109 34938264 + 34938244 34938284 41 GCGTTATCTTGTGGGCTTCCCCGGCCGCCGAAGCGTAGGGC GCGTTATCTTGTGGGCTTCCCTGGCCGCCGAAGCGTAGGGC < 41bp 0.509308779454645 0.711766802627401 0.51697046 0.43847 prediction 0.404916046345512 Functional Gain - PDHX ENSG00000110435 CDS Human protein_coding chr11:34938264 chr11:34938265 synonymous SNV . 0 22 hm5C_associated_SNPs_128591 2 Benign Pyruvate dehydrogenase complex deficiency RCV000335880.1
3875 chr11 34938265 34938265 1 + C T rs2956109 34938264 + 34938244 34938284 41 GCGTTATCTTGTGGGCTTCCCCGGCCGCCGAAGCGTAGGGC GCGTTATCTTGTGGGCTTCCCTGGCCGCCGAAGCGTAGGGC < 41bp 0.509308779454645 0.711766802627401 0.51697046 0.43847 prediction 0.404916046345512 Functional Gain - PDHX ENSG00000110435 CDS Human protein_coding chr11:34938264 chr11:34938265 synonymous SNV . 0 22 hm5C_associated_SNPs_128591 2 Benign not specified RCV000376293.1
3875 chr16 86547001 86547001 1 + C T rs56404456 86547000 + 86546980 86547020 41 GGTGCTGTGCAGGGGAAAGCCCCCGCACCCACACAGGAATT GGTGCTGTGCAGGGGAAAGCCTCCGCACCCACACAGGAATT < 41bp 0.486085862934566 0.702411844007215 0.1492193 0.10533813 prediction 0.40482368801443 Functional Gain - FOXF1 ENSG00000103241 UTR3 Human protein_coding chr16:86547000 chr16:86547001 . . 0 22 hm5C_associated_SNPs_128608 1 Benign Alveolar capillary dysplasia with misalignment of pulmonary veins RCV000312856.1
3875 chr6 146755515 146755515 1 + T G rs6923864 146755512 + 146755492 146755532 41 CACGCGGTGCTGGCAGGCCCCGGTGGTCCCGGGAACGGGCT CACGCGGTGCTGGCAGGCCCCGGGGGTCCCGGGAACGGGCT < 41bp 0.728622071237947 0.930999062835207 0.67614865 0.92285454 prediction 0.404753983194519 Functional Gain - GRM1 ENSG00000152822 CDS Human protein_coding chr6:146755512 chr6:146755515 synonymous SNV . 0 24 hm5C_associated_SNPs_128621 1 Likely benign not specified RCV000117206.2
3875 chr9 98229389 98229389 1 + C G rs2066829 98229385 + 98229365 98229405 41 CCGAAAGGACGAGAGCCTCCCACGCCGTCTTACCCTGAAGC CCGAAAGGACGAGAGCCTCCCACGGCGTCTTACCCTGAAGC < 41bp 0.407711543179831 0.702158197641294 0.06963137 0.5210739 prediction 0.404316395282588 Functional Gain - LOC100507346 ENSG00000185920 intronic Human protein_coding chr9:98229385 chr9:98229389 . . 0 25 hm5C_associated_SNPs_128732 3 Benign not specified RCV000252294.1
3875 chr9 98229389 98229389 1 + C G rs2066829 98229385 + 98229365 98229405 41 CCGAAAGGACGAGAGCCTCCCACGCCGTCTTACCCTGAAGC CCGAAAGGACGAGAGCCTCCCACGGCGTCTTACCCTGAAGC < 41bp 0.407711543179831 0.702158197641294 0.06963137 0.5210739 prediction 0.404316395282588 Functional Gain - LOC100507346 ENSG00000185920 intronic Human protein_coding chr9:98229385 chr9:98229389 . . 0 25 hm5C_associated_SNPs_128732 3 Benign Gorlin syndrome RCV000294663.1
3875 chr9 98229389 98229389 1 + C G rs2066829 98229385 + 98229365 98229405 41 CCGAAAGGACGAGAGCCTCCCACGCCGTCTTACCCTGAAGC CCGAAAGGACGAGAGCCTCCCACGGCGTCTTACCCTGAAGC < 41bp 0.407711543179831 0.702158197641294 0.06963137 0.5210739 prediction 0.404316395282588 Functional Gain - LOC100507346 ENSG00000185920 intronic Human protein_coding chr9:98229385 chr9:98229389 . . 0 25 hm5C_associated_SNPs_128732 3 Benign Holoprosencephaly RCV000333289.1
3875 chr7 127896494 127896494 1 + C T rs188857005 127896493 + 127896473 127896513 41 CTATAGGCTGGAGAAGCTCACCCAATAAACATTAAGATTGA CTATAGGCTGGAGAAGCTCACTCAATAAACATTAAGATTGA < 41bp 0.504681168564776 0.706703899199535 0.30272824 0.72301817 prediction 0.404045461269517 Functional Gain - LEP ENSG00000174697 UTR3 Human protein_coding chr7:127896493 chr7:127896494 . . 0 22 hm5C_associated_SNPs_128791 2 Uncertain significance Monogenic Non-Syndromic Obesity RCV000280796.1
3875 chr7 127896494 127896494 1 + C T rs188857005 127896493 + 127896473 127896513 41 CTATAGGCTGGAGAAGCTCACCCAATAAACATTAAGATTGA CTATAGGCTGGAGAAGCTCACTCAATAAACATTAAGATTGA < 41bp 0.504681168564776 0.706703899199535 0.30272824 0.72301817 prediction 0.404045461269517 Functional Gain - LEP ENSG00000174697 UTR3 Human protein_coding chr7:127896493 chr7:127896494 . . 0 22 hm5C_associated_SNPs_128791 2 Uncertain significance Leptin deficiency or dysfunction RCV000338200.1
3875 chr19 47258899 47258899 1 + C T rs111754012 47258898 + 47258878 47258918 41 GGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCC GGCATTTGACAACGCGGTGCCTGAGCTGGTAGACTCCTTCC < 41bp 0.582172439256872 0.784082821096611 0.15912956 0.166531 prediction 0.403820763679479 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258898 chr19:47258899 synonymous SNV . 0 22 hm5C_associated_SNPs_128859 2 Benign not specified RCV000117037.3
3875 chr19 47258899 47258899 1 + C T rs111754012 47258898 + 47258878 47258918 41 GGCATTTGACAACGCGGTGCCCGAGCTGGTAGACTCCTTCC GGCATTTGACAACGCGGTGCCTGAGCTGGTAGACTCCTTCC < 41bp 0.582172439256872 0.784082821096611 0.15912956 0.166531 prediction 0.403820763679479 Functional Gain - FKRP ENSG00000181027 CDS Human protein_coding chr19:47258898 chr19:47258899 synonymous SNV . 0 22 hm5C_associated_SNPs_128859 2 Benign Walker-Warburg congenital muscular dystrophy RCV000227021.2
3875 chr17 48252808 48252808 1 + C G rs60300808 48252807 + 48252787 48252827 41 GACCAGCACTGACAGCCTAGCCAGGTAGGTCTGGTGGGTGA GACCAGCACTGACAGCCTAGCGAGGTAGGTCTGGTGGGTGA < 41bp 0.690030567903599 0.891900757837979 0.892431 0.928331 prediction 0.40374037986876 Functional Gain - SGCA ENSG00000188662 ncRNA_intronic Human transcribed_unitary_pseudogene chr17:48252807 chr17:48252808 . . 0 22 hm5C_associated_SNPs_128875 2 Uncertain significance Limb-girdle muscular dystrophy, type 2D RCV000274520.1
3875 chr17 48252808 48252808 1 + C G rs60300808 48252807 + 48252787 48252827 41 GACCAGCACTGACAGCCTAGCCAGGTAGGTCTGGTGGGTGA GACCAGCACTGACAGCCTAGCGAGGTAGGTCTGGTGGGTGA < 41bp 0.690030567903599 0.891900757837979 0.892431 0.928331 prediction 0.40374037986876 Functional Gain - SGCA ENSG00000188662 ncRNA_intronic Human transcribed_unitary_pseudogene chr17:48252807 chr17:48252808 . . 0 22 hm5C_associated_SNPs_128875 2 Benign not specified RCV000428179.1
3875 chr6 76564953 76564953 1 + A G rs2273857 76564950 + 76564930 76564970 41 GATCTTCGAGTAAGTTTGACCACAAGAGTCATGCTAACAAC GATCTTCGAGTAAGTTTGACCACGAGAGTCATGCTAACAAC < 41bp 0.590473270963062 0.792334246623323 0.08084735 0.17550418 prediction 0.403721951320523 Functional Gain - MYO6 ENSG00000196586 CDS Human protein_coding chr6:76564950 chr6:76564953 synonymous SNV . 0 24 hm5C_associated_SNPs_128879 3 Benign not specified RCV000038283.2
3875 chr6 76564953 76564953 1 + A G rs2273857 76564950 + 76564930 76564970 41 GATCTTCGAGTAAGTTTGACCACAAGAGTCATGCTAACAAC GATCTTCGAGTAAGTTTGACCACGAGAGTCATGCTAACAAC < 41bp 0.590473270963062 0.792334246623323 0.08084735 0.17550418 prediction 0.403721951320523 Functional Gain - MYO6 ENSG00000196586 CDS Human protein_coding chr6:76564950 chr6:76564953 synonymous SNV . 0 24 hm5C_associated_SNPs_128879 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000304241.1
3875 chr6 76564953 76564953 1 + A G rs2273857 76564950 + 76564930 76564970 41 GATCTTCGAGTAAGTTTGACCACAAGAGTCATGCTAACAAC GATCTTCGAGTAAGTTTGACCACGAGAGTCATGCTAACAAC < 41bp 0.590473270963062 0.792334246623323 0.08084735 0.17550418 prediction 0.403721951320523 Functional Gain - MYO6 ENSG00000196586 CDS Human protein_coding chr6:76564950 chr6:76564953 synonymous SNV . 0 24 hm5C_associated_SNPs_128879 3 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000391909.1
3875 chr2 166179835 166179835 1 + C T COAD 166179834 + 166179814 166179854 41 GAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGG GAAGAGACTCTCTGTTCGTGCTGCACAGACATGGAGAACGG < 41bp 0.437948302116973 0.701781062204958 0.047185898 0.07183704 prediction 0.403562124409915 Functional Gain - SCN2A ENSG00000136531 CDS Human protein_coding chr2:166179834 chr2:166179835 nonsynonymous SNV 0.974 5 22 hm5C_associated_SNPs_128925 1 Uncertain significance not specified RCV000189246.2
3875 chr14 88892749 88892749 1 + T C rs17124665 88892746 + 88892726 88892766 41 AACTCCAGTTCCTCCCCGTCCAGTGTGGATTATGCAGCCTC AACTCCAGTTCCTCCCCGTCCAGCGTGGATTATGCAGCCTC < 41bp 0.549861552620561 0.751491428511068 0.17365575 0.33756202 prediction 0.403259751781014 Functional Gain - SPATA7 ENSG00000042317 CDS Human protein_coding chr14:88892746 chr14:88892749 synonymous SNV . 0 24 hm5C_associated_SNPs_128995 2 Likely benign Retinitis Pigmentosa, Recessive RCV000291551.1
3875 chr14 88892749 88892749 1 + T C rs17124665 88892746 + 88892726 88892766 41 AACTCCAGTTCCTCCCCGTCCAGTGTGGATTATGCAGCCTC AACTCCAGTTCCTCCCCGTCCAGCGTGGATTATGCAGCCTC < 41bp 0.549861552620561 0.751491428511068 0.17365575 0.33756202 prediction 0.403259751781014 Functional Gain - SPATA7 ENSG00000042317 CDS Human protein_coding chr14:88892746 chr14:88892749 synonymous SNV . 0 24 hm5C_associated_SNPs_128995 2 Likely benign Leber congenital amaurosis RCV000385815.1
3875 chr3 10183605 10183605 1 + C T rs35460768 10183604 + 10183584 10183624 41 CAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAG CAGGCGTCGAAGAGTACGGCCTTGAAGAAGACGGCGGGGAG < 41bp 0.48508545574534 0.701611791946954 0.6621092 0.5084122 prediction 0.403223583893908 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183604 chr3:10183605 nonsynonymous SNV 0.015 2 22 hm5C_associated_SNPs_129006 6 Benign not specified RCV000079211.6
3875 chr3 10183605 10183605 1 + C T rs35460768 10183604 + 10183584 10183624 41 CAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAG CAGGCGTCGAAGAGTACGGCCTTGAAGAAGACGGCGGGGAG < 41bp 0.48508545574534 0.701611791946954 0.6621092 0.5084122 prediction 0.403223583893908 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183604 chr3:10183605 nonsynonymous SNV 0.015 2 22 hm5C_associated_SNPs_129006 6 other Von Hippel-Lindau syndrome RCV000119213.5
3875 chr3 10183605 10183605 1 + C T rs35460768 10183604 + 10183584 10183624 41 CAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAG CAGGCGTCGAAGAGTACGGCCTTGAAGAAGACGGCGGGGAG < 41bp 0.48508545574534 0.701611791946954 0.6621092 0.5084122 prediction 0.403223583893908 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183604 chr3:10183605 nonsynonymous SNV 0.015 2 22 hm5C_associated_SNPs_129006 6 Benign Hereditary cancer-predisposing syndrome RCV000126300.6
3875 chr3 10183605 10183605 1 + C T rs35460768 10183604 + 10183584 10183624 41 CAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAG CAGGCGTCGAAGAGTACGGCCTTGAAGAAGACGGCGGGGAG < 41bp 0.48508545574534 0.701611791946954 0.6621092 0.5084122 prediction 0.403223583893908 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183604 chr3:10183605 nonsynonymous SNV 0.015 2 22 hm5C_associated_SNPs_129006 6 Likely benign not provided RCV000224298.1
3875 chr3 10183605 10183605 1 + C T rs35460768 10183604 + 10183584 10183624 41 CAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAG CAGGCGTCGAAGAGTACGGCCTTGAAGAAGACGGCGGGGAG < 41bp 0.48508545574534 0.701611791946954 0.6621092 0.5084122 prediction 0.403223583893908 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183604 chr3:10183605 nonsynonymous SNV 0.015 2 22 hm5C_associated_SNPs_129006 6 Benign Erythrocytosis, familial, 2 RCV000225757.2
3875 chr3 10183605 10183605 1 + C T rs35460768 10183604 + 10183584 10183624 41 CAGGCGTCGAAGAGTACGGCCCTGAAGAAGACGGCGGGGAG CAGGCGTCGAAGAGTACGGCCTTGAAGAAGACGGCGGGGAG < 41bp 0.48508545574534 0.701611791946954 0.6621092 0.5084122 prediction 0.403223583893908 Functional Gain - VHL ENSG00000134086 CDS Human protein_coding chr3:10183604 chr3:10183605 nonsynonymous SNV 0.015 2 22 hm5C_associated_SNPs_129006 6 Benign Von Hippel-Lindau syndrome RCV000225757.2
3875 chr21 45712255 45712255 1 + C T LIHC 45712254 + 45712234 45712274 41 CAGCCCCGGGCAGAGGAGCCCCGGCCCCAGGAGCCACCCGT CAGCCCCGGGCAGAGGAGCCCTGGCCCCAGGAGCCACCCGT < 41bp 0.474149022113507 0.701600982304623 0.59673405 0.51036453 prediction 0.403201964609246 Functional Gain - AIRE ENSG00000160224 CDS Human protein_coding chr21:45712254 chr21:45712255 nonsynonymous SNV 0.002 3 22 hm5C_associated_SNPs_129016 1 Uncertain significance not specified RCV000361358.1
3875 chr1 183184616 183184616 1 + C T rs2274980 183184615 + 183184595 183184635 41 TAGTGCTCGATGTGACAACTCCGGACGGTGCAGCTGTAAAC TAGTGCTCGATGTGACAACTCTGGACGGTGCAGCTGTAAAC < 41bp 0.638996925297305 0.840541862109374 0.8455724 0.44090822 prediction 0.403089873624139 Functional Gain - LAMC2 ENSG00000058085 CDS Human protein_coding chr1:183184615 chr1:183184616 synonymous SNV . 0 22 hm5C_associated_SNPs_129040 2 Benign not specified RCV000253816.1
3875 chr1 183184616 183184616 1 + C T rs2274980 183184615 + 183184595 183184635 41 TAGTGCTCGATGTGACAACTCCGGACGGTGCAGCTGTAAAC TAGTGCTCGATGTGACAACTCTGGACGGTGCAGCTGTAAAC < 41bp 0.638996925297305 0.840541862109374 0.8455724 0.44090822 prediction 0.403089873624139 Functional Gain - LAMC2 ENSG00000058085 CDS Human protein_coding chr1:183184615 chr1:183184616 synonymous SNV . 0 22 hm5C_associated_SNPs_129040 2 Benign Epidermolysis bullosa, junctional RCV000310410.1
3875 chr8 101252680 101252680 1 + T C rs6511 101252678 + 101252658 101252698 41 AGACCTGCAGGGGAGGTCTCCATGGGATGCCTTGCTTCTGA AGACCTGCAGGGGAGGTCTCCACGGGATGCCTTGCTTCTGA < 41bp 0.656702010869048 0.858088608119174 0.8936554 0.9053211 prediction 0.402773194500251 Functional Gain - SPAG1 ENSG00000104450 CDS Human protein_coding chr8:101252678 chr8:101252680 nonsynonymous SNV 0.000 0 23 hm5C_associated_SNPs_129118 1 Benign not specified RCV000241788.1
3875 chr13 22275929 22275929 1 + C G rs147999718 22275925 + 22275905 22275945 41 GAGCGAGAGCAAAAGGACTGCGGCCTGATGCATGCTGGAAA GAGCGAGAGCAAAAGGACTGCGGCGTGATGCATGCTGGAAA < 41bp 0.411346120195759 0.701321995366698 0.6717846 0.83990383 prediction 0.402643990733396 Functional Gain - FGF9 ENSG00000102678 UTR3 Human protein_coding chr13:22275925 chr13:22275929 . . 0 25 hm5C_associated_SNPs_129158 1 Likely benign Symphalangism-brachydactyly syndrome RCV000305315.1
3875 chr19 50910610 50910610 1 + C T rs2230248 50910609 + 50910589 50910629 41 GCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCG GCACGAGGGGCTGCTGATGCCTGTGGTGAAGTCAGAGGGCG < 41bp 0.456788227404036 0.701297001100589 0.31637165 0.3941056 prediction 0.402594002201179 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910609 chr19:50910610 synonymous SNV . 0 22 hm5C_associated_SNPs_129173 2 Benign Colorectal cancer 10 RCV000231634.2
3875 chr19 50910610 50910610 1 + C T rs2230248 50910609 + 50910589 50910629 41 GCACGAGGGGCTGCTGATGCCCGTGGTGAAGTCAGAGGGCG GCACGAGGGGCTGCTGATGCCTGTGGTGAAGTCAGAGGGCG < 41bp 0.456788227404036 0.701297001100589 0.31637165 0.3941056 prediction 0.402594002201179 Functional Gain - POLD1 ENSG00000062822 CDS Human protein_coding chr19:50910609 chr19:50910610 synonymous SNV . 0 22 hm5C_associated_SNPs_129173 2 Benign not specified RCV000442456.1
3875 chrX 40440272 40440272 1 + C A rs377597654 40440271 + 40440251 40440291 41 CGGCTGTCGCCCGTGTCCCGCCGGCCCGTTCCGTGTCGCCC CGGCTGTCGCCCGTGTCCCGCAGGCCCGTTCCGTGTCGCCC < 41bp 0.603200490949665 0.8044874051511 0.8126503 0.8884505 prediction 0.402573828402871 Functional Gain - ATP6AP2 ENSG00000182220 CDS Human protein_coding chrX:40440271 chrX:40440272 synonymous SNV . 0 22 hm5C_associated_SNPs_129179 1 Benign not specified RCV000186816.2
3875 chr6 43583292 43583292 1 + A G rs550215250 43583289 + 43583269 43583309 41 GCAACAGAGCGAGACTCCATCTCAAACAAAAACAAGAACAA GCAACAGAGCGAGACTCCATCTCGAACAAAAACAAGAACAA < 41bp 0.56145827389486 0.762614037400992 0.409108 0.8863133 prediction 0.402311527012265 Functional Gain - POLH ENSG00000170734 UTR3 Human protein_coding chr6:43583289 chr6:43583292 . . 0 24 hm5C_associated_SNPs_129250 1 Uncertain significance Xeroderma pigmentosum RCV000389985.1
3875 chr16 28898793 28898793 1 + T C rs6565259 28898790 + 28898770 28898810 41 GCCTTGGGCATCGTGGCCACCACTGGTGTGGGCACCGAGAT GCCTTGGGCATCGTGGCCACCACCGGTGTGGGCACCGAGAT < 41bp 0.569660531009666 0.770797002891906 0.19892842 0.2660172 prediction 0.40227294376448 Functional Gain - ATP2A1 ENSG00000196296 CDS Human protein_coding chr16:28898790 chr16:28898793 synonymous SNV . 0 24 hm5C_associated_SNPs_129256 2 Benign not specified RCV000082700.5
3875 chr16 28898793 28898793 1 + T C rs6565259 28898790 + 28898770 28898810 41 GCCTTGGGCATCGTGGCCACCACTGGTGTGGGCACCGAGAT GCCTTGGGCATCGTGGCCACCACCGGTGTGGGCACCGAGAT < 41bp 0.569660531009666 0.770797002891906 0.19892842 0.2660172 prediction 0.40227294376448 Functional Gain - ATP2A1 ENSG00000196296 CDS Human protein_coding chr16:28898790 chr16:28898793 synonymous SNV . 0 24 hm5C_associated_SNPs_129256 2 Benign Brody myopathy RCV000371805.1
3875 chr9 2718030 2718030 1 + C T rs113456345 2718029 + 2718009 2718049 41 CGACCCTCCGGCCCTGCTGTCCACGCTGAATGTGAACGTGG CGACCCTCCGGCCCTGCTGTCTACGCTGAATGTGAACGTGG < 41bp 0.469492849316169 0.701058449278092 0.22833353 0.10467973 prediction 0.402116898556183 Functional Gain - KCNV2 ENSG00000168263 CDS Human protein_coding chr9:2718029 chr9:2718030 synonymous SNV . 0 22 hm5C_associated_SNPs_129297 1 Benign not specified RCV000082507.4
3875 chr16 8942941 8942941 1 + C G rs78698557 8942937 + 8942917 8942957 41 TGGGGCCAGGGGAGCCCAGGCTGCCCTGCACTCCTGCCTCC TGGGGCCAGGGGAGCCCAGGCTGCGCTGCACTCCTGCCTCC < 41bp 0.6563574561215 0.857389101176197 0.05051264 0.11801103 prediction 0.402063290109394 Functional Gain - PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942937 chr16:8942941 . . 0 25 hm5C_associated_SNPs_129319 1 Likely benign Congenital disorder of glycosylation RCV000309288.1
3875 chr1 35227673 35227673 1 + A G rs755931 35227670 + 35227650 35227690 41 TCCATAACCTGCGAGATCAGCAGATAAGATCAACAGGTCCC TCCATAACCTGCGAGATCAGCAGGTAAGATCAACAGGTCCC < 41bp 0.465112820950624 0.700846034335017 0.7424278 0.85042477 prediction 0.401692068670033 Functional Gain - GJB4 ENSG00000255811 ncRNA_intronic Human antisense chr1:35227670 chr1:35227673 . . 0 24 hm5C_associated_SNPs_129417 1 Benign not specified RCV000175988.1
3875 chr12 49312540 49312540 1 + C T rs78877829 49312539 + 49312519 49312559 41 GAAGATGAGAACCGGTATATCCGTAATGACAAGGAATTGGT GAAGATGAGAACCGGTATATCTGTAATGACAAGGAATTGGT < 41bp 0.436484197569834 0.700781402873785 0.027687818 0.04531908 prediction 0.40156280574757 Functional Gain - CCDC65 ENSG00000139537 CDS Human protein_coding chr12:49312539 chr12:49312540 nonsynonymous SNV 0.874 3 22 hm5C_associated_SNPs_129458 2 Benign not specified RCV000248454.1
3875 chr12 49312540 49312540 1 + C T rs78877829 49312539 + 49312519 49312559 41 GAAGATGAGAACCGGTATATCCGTAATGACAAGGAATTGGT GAAGATGAGAACCGGTATATCTGTAATGACAAGGAATTGGT < 41bp 0.436484197569834 0.700781402873785 0.027687818 0.04531908 prediction 0.40156280574757 Functional Gain - CCDC65 ENSG00000139537 CDS Human protein_coding chr12:49312539 chr12:49312540 nonsynonymous SNV 0.874 3 22 hm5C_associated_SNPs_129458 2 Benign Ciliary dyskinesia, primary, 27 RCV000456820.1
3875 chr17 17700792 17700792 1 + C T rs35686634 17700791 + 17700771 17700811 41 GCTGGGCCTGGCCTCCCAGCCCCCGGAGGGCAGGCCCTGCC GCTGGGCCTGGCCTCCCAGCCTCCGGAGGGCAGGCCCTGCC < 41bp 0.44112163223708 0.700702820653532 0.14115426 0.386577 prediction 0.401405641307064 Functional Gain - RAI1 ENSG00000108557 CDS Human protein_coding chr17:17700791 chr17:17700792 synonymous SNV . 0 22 hm5C_associated_SNPs_129500 1 other not specified RCV000082270.8
3875 chr20 45354829 45354829 1 + C G rs79849424 45354826 + 45354806 45354846 41 TCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCC TCCCAGATCTGGAGACCCCTCAGGCCCTCCTCGGCTGGCCC < 41bp 0.532807098748935 0.733453998440373 0.44642344 0.89477396 prediction 0.401293799382876 Functional Gain - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45354826 chr20:45354829 nonsynonymous SNV 0.002 1 24 hm5C_associated_SNPs_129525 3 Benign not specified RCV000128124.4
3875 chr20 45354829 45354829 1 + C G rs79849424 45354826 + 45354806 45354846 41 TCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCC TCCCAGATCTGGAGACCCCTCAGGCCCTCCTCGGCTGGCCC < 41bp 0.532807098748935 0.733453998440373 0.44642344 0.89477396 prediction 0.401293799382876 Functional Gain - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45354826 chr20:45354829 nonsynonymous SNV 0.002 1 24 hm5C_associated_SNPs_129525 3 other Arterial tortuosity syndrome RCV000230382.3
3875 chr20 45354829 45354829 1 + C G rs79849424 45354826 + 45354806 45354846 41 TCCCAGATCTGGAGACCCCTCAGCCCCTCCTCGGCTGGCCC TCCCAGATCTGGAGACCCCTCAGGCCCTCCTCGGCTGGCCC < 41bp 0.532807098748935 0.733453998440373 0.44642344 0.89477396 prediction 0.401293799382876 Functional Gain - SLC2A10 ENSG00000197496 CDS Human protein_coding chr20:45354826 chr20:45354829 nonsynonymous SNV 0.002 1 24 hm5C_associated_SNPs_129525 3 Benign Thoracic aortic aneurysm and aortic dissection RCV000246894.1
3875 chr14 76967375 76967375 1 + C A rs8017684 76967374 + 76967354 76967394 41 TGGCCAGATGAGGACCCTCTCCGGGGAAGGGAGAGGACTGA TGGCCAGATGAGGACCCTCTCAGGGGAAGGGAGAGGACTGA < 41bp 0.650448103805319 0.85085581516991 0.9050551 0.92361593 prediction 0.400815422729184 Functional Gain - ESRRB ENSG00000259124 ncRNA_intronic Human lincRNA chr14:76967374 chr14:76967375 . . 0 22 hm5C_associated_SNPs_129664 1 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000270188.1
3875 chr2 71192331 71192331 1 + C T rs117574187 71192330 + 71192310 71192350 41 CCCCTCCCTCGCCACCCCAACCAGCGGCTTCTGCGCCGCCC CCCCTCCCTCGCCACCCCAACTAGCGGCTTCTGCGCCGCCC < 41bp 0.509345066252503 0.709630165565806 0.9071736 0.82114327 prediction 0.400570198626604 Functional Gain - ATP6V1B1 ENSG00000116039 UTR3 Human protein_coding chr2:71192330 chr2:71192331 . . 0 22 hm5C_associated_SNPs_129729 1 Uncertain significance Renal tubular acidosis with progressive nerve deafness RCV000360366.1
3875 chr18 48610372 48610372 1 + A G rs75712226 48610369 + 48610349 48610389 41 ATAAACACTTAACGCGCGTGCGCACGCGCGCGCGCACACAC ATAAACACTTAACGCGCGTGCGCGCGCGCGCGCGCACACAC < 41bp 0.511481639738906 0.711619664175239 0.16844663 0.19839919 prediction 0.400276048872666 Functional Gain - SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48610369 chr18:48610372 . . 0 24 hm5C_associated_SNPs_129803 3 Benign Myhre syndrome RCV000282968.1
3875 chr18 48610372 48610372 1 + A G rs75712226 48610369 + 48610349 48610389 41 ATAAACACTTAACGCGCGTGCGCACGCGCGCGCGCACACAC ATAAACACTTAACGCGCGTGCGCGCGCGCGCGCGCACACAC < 41bp 0.511481639738906 0.711619664175239 0.16844663 0.19839919 prediction 0.400276048872666 Functional Gain - SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48610369 chr18:48610372 . . 0 24 hm5C_associated_SNPs_129803 3 Benign Juvenile Polyposis RCV000346092.1
3875 chr18 48610372 48610372 1 + A G rs75712226 48610369 + 48610349 48610389 41 ATAAACACTTAACGCGCGTGCGCACGCGCGCGCGCACACAC ATAAACACTTAACGCGCGTGCGCGCGCGCGCGCGCACACAC < 41bp 0.511481639738906 0.711619664175239 0.16844663 0.19839919 prediction 0.400276048872666 Functional Gain - SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48610369 chr18:48610372 . . 0 24 hm5C_associated_SNPs_129803 3 Benign Osler hemorrhagic telangiectasia syndrome RCV000393370.1
3875 chr6 31926721 31926721 1 + C G rs546698443 31926717 + 31926697 31926737 41 GGTCTCCGGCCGCGCCCGCGCTGGCCGCTGATAGCGGGCTC GGTCTCCGGCCGCGCCCGCGCTGGGCGCTGATAGCGGGCTC < 41bp 0.599294291067931 0.799360102348654 0.83891094 0.8761198 prediction 0.400131622561446 Functional Gain - NELFE;SKIV2L ENSG00000204356 UTR5 Human protein_coding chr6:31926717 chr6:31926721 . . 0 25 hm5C_associated_SNPs_129845 1 Uncertain significance Trichohepatoenteric syndrome RCV000361885.1
3875 chr17 78081504 78081504 1 + C T rs142967546 78081503 + 78081483 78081523 41 ACCAGGATCACCCTGTGGAACCGGGACCTTGCGCCCACGGT ACCAGGATCACCCTGTGGAACTGGGACCTTGCGCCCACGGT < 41bp 0.608596734596879 0.808633335892251 0.388959 0.24088416 prediction 0.400073202590743 Functional Gain - GAA ENSG00000171298 CDS Human protein_coding chr17:78081503 chr17:78081504 nonsynonymous SNV 0.971 5 22 hm5C_associated_SNPs_129862 1 Uncertain significance not specified RCV000319725.1
3875 chr3 9979713 9979713 1 + C G rs2302787 9979712 + 9979692 9979732 41 GCCTCAGGCAGCAGGAGGCCCCGGACCTCTTCCAGTGGCTG GCCTCAGGCAGCAGGAGGCCCGGGACCTCTTCCAGTGGCTG < 41bp 0.704880936006536 0.904893723308806 0.88626707 0.9001434 prediction 0.40002557460454 Functional Gain - CRELD1 ENSG00000163703 CDS Human protein_coding chr3:9979712 chr3:9979713 nonsynonymous SNV 0.954 4 22 hm5C_associated_SNPs_129869 1 Benign Atrioventricular septal defect 2 RCV000228462.1
3875 chr17 44060859 44060859 1 + A G rs63750072 44060859 - 44060839 44060879 41 CCTTGGAGGGAGGGGAGTCTTGGGGGGAGGACTCATCGACG CCTTGGAGGGAGGGGAGTCTCGGGGGGAGGACTCATCGACG Direct Gain 0 0.988780123315929 0 0.967960953712463 prediction 0.977560246631858 Functional Gain - MAPT ENSG00000186868 CDS Human protein_coding chr17:44060859 chr17:44060859 nonsynonymous SNV 0.138 3 21 hm5C_associated_SNPs_129882 2 not provided not provided RCV000084502.1
3875 chr17 44060859 44060859 1 + A G rs63750072 44060859 - 44060839 44060879 41 CCTTGGAGGGAGGGGAGTCTTGGGGGGAGGACTCATCGACG CCTTGGAGGGAGGGGAGTCTCGGGGGGAGGACTCATCGACG Direct Gain 0 0.988780123315929 0 0.967960953712463 prediction 0.977560246631858 Functional Gain - MAPT ENSG00000186868 CDS Human protein_coding chr17:44060859 chr17:44060859 nonsynonymous SNV 0.138 3 21 hm5C_associated_SNPs_129882 2 Benign not specified RCV000246243.1
3875 chr12 32897437 32897437 1 + T C rs1971910 32897437 + 32897417 32897457 41 GCAGGTGGATCACCTGAGGTTGGGAGTTGGAGACCAGCTTG GCAGGTGGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTG Direct Gain 0 0.975549858251861 0 0.896290183067322 prediction 0.951099716503723 Functional Gain - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897437 chr12:32897437 . . 0 21 hm5C_associated_SNPs_130028 3 Benign Mitochondrial myopathy and sideroblastic anemia RCV000324028.1
3875 chr12 32897437 32897437 1 + T C rs1971910 32897437 + 32897417 32897457 41 GCAGGTGGATCACCTGAGGTTGGGAGTTGGAGACCAGCTTG GCAGGTGGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTG Direct Gain 0 0.975549858251861 0 0.896290183067322 prediction 0.951099716503723 Functional Gain - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897437 chr12:32897437 . . 0 21 hm5C_associated_SNPs_130028 3 Benign Lethal Encephalopathy RCV000371326.1
3875 chr12 32897437 32897437 1 + T C rs1971910 32897437 + 32897417 32897457 41 GCAGGTGGATCACCTGAGGTTGGGAGTTGGAGACCAGCTTG GCAGGTGGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTG Direct Gain 0 0.975549858251861 0 0.896290183067322 prediction 0.951099716503723 Functional Gain - DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897437 chr12:32897437 . . 0 21 hm5C_associated_SNPs_130028 3 Benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000371686.1
3875 chr20 32441367 32441367 1 + T C rs114112565 32441367 + 32441347 32441387 41 ACTGGGCTGGATCCATGTAATGGGGTCCAGCGCTGGCTGGG ACTGGGCTGGATCCATGTAACGGGGTCCAGCGCTGGCTGGG Direct Gain 0 0.974934276189644 0 0.979122638702393 prediction 0.949868552379287 Functional Gain - CHMP4B ENSG00000101421 UTR3 Human protein_coding chr20:32441367 chr20:32441367 . . 0 21 hm5C_associated_SNPs_130050 1 Benign not specified RCV000251191.1
3875 chr11 824777 824777 1 + C G rs142588621 824777 - 824757 824797 41 GCCCGGCCAGCTGGTGCTGCGGGGATGCTGGGTCCGCGGGG GCCCGGCCAGCTGGTGCTGCCGGGATGCTGGGTCCGCGGGG Direct Gain 0 0.972732263586624 0 0.968183994293213 prediction 0.945464527173248 Functional Gain - PNPLA2 ENSG00000177666 CDS Human protein_coding chr11:824777 chr11:824777 nonsynonymous SNV 0.001 1 21 hm5C_associated_SNPs_130125 2 Likely benign not specified RCV000242486.1
3875 chr11 824777 824777 1 + C G rs142588621 824777 - 824757 824797 41 GCCCGGCCAGCTGGTGCTGCGGGGATGCTGGGTCCGCGGGG GCCCGGCCAGCTGGTGCTGCCGGGATGCTGGGTCCGCGGGG Direct Gain 0 0.972732263586624 0 0.968183994293213 prediction 0.945464527173248 Functional Gain - PNPLA2 ENSG00000177666 CDS Human protein_coding chr11:824777 chr11:824777 nonsynonymous SNV 0.001 1 21 hm5C_associated_SNPs_130125 2 Likely benign Neutral lipid storage disease with myopathy RCV000284101.1
3875 chr2 220283259 220283259 1 + A G rs1318299 220283259 - 220283239 220283279 41 GAACTCAGCGGGGAGCCGAGTGGGAAGCCCGGGGCCCCGCC GAACTCAGCGGGGAGCCGAGCGGGAAGCCCGGGGCCCCGCC Direct Gain 0 0.972380141621852 0 0.93900603055954 prediction 0.944760283243703 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220283259 chr2:220283259 synonymous SNV . 0 21 hm5C_associated_SNPs_130136 8 Benign,Benign not specified,Cardiomyopathy RCV000154433.1,RCV000029660.1
3875 chr2 220283259 220283259 1 + A G rs1318299 220283259 - 220283239 220283279 41 GAACTCAGCGGGGAGCCGAGTGGGAAGCCCGGGGCCCCGCC GAACTCAGCGGGGAGCCGAGCGGGAAGCCCGGGGCCCCGCC Direct Gain 0 0.972380141621852 0 0.93900603055954 prediction 0.944760283243703 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220283259 chr2:220283259 synonymous SNV . 0 21 hm5C_associated_SNPs_130136 8 Benign not specified RCV000037251.10
3875 chr2 220283259 220283259 1 + A G rs1318299 220283259 - 220283239 220283279 41 GAACTCAGCGGGGAGCCGAGTGGGAAGCCCGGGGCCCCGCC GAACTCAGCGGGGAGCCGAGCGGGAAGCCCGGGGCCCCGCC Direct Gain 0 0.972380141621852 0 0.93900603055954 prediction 0.944760283243703 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220283259 chr2:220283259 synonymous SNV . 0 21 hm5C_associated_SNPs_130136 8 Benign Cardiovascular phenotype RCV000250669.1
3875 chr2 220283259 220283259 1 + A G rs1318299 220283259 - 220283239 220283279 41 GAACTCAGCGGGGAGCCGAGTGGGAAGCCCGGGGCCCCGCC GAACTCAGCGGGGAGCCGAGCGGGAAGCCCGGGGCCCCGCC Direct Gain 0 0.972380141621852 0 0.93900603055954 prediction 0.944760283243703 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220283259 chr2:220283259 synonymous SNV . 0 21 hm5C_associated_SNPs_130136 8 Benign Myofibrillar myopathy 1 RCV000299687.1
3875 chr2 220283259 220283259 1 + A G rs1318299 220283259 - 220283239 220283279 41 GAACTCAGCGGGGAGCCGAGTGGGAAGCCCGGGGCCCCGCC GAACTCAGCGGGGAGCCGAGCGGGAAGCCCGGGGCCCCGCC Direct Gain 0 0.972380141621852 0 0.93900603055954 prediction 0.944760283243703 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220283259 chr2:220283259 synonymous SNV . 0 21 hm5C_associated_SNPs_130136 8 Benign Scapuloperoneal weakness RCV000356753.1
3875 chr2 220283259 220283259 1 + A G rs1318299 220283259 - 220283239 220283279 41 GAACTCAGCGGGGAGCCGAGTGGGAAGCCCGGGGCCCCGCC GAACTCAGCGGGGAGCCGAGCGGGAAGCCCGGGGCCCCGCC Direct Gain 0 0.972380141621852 0 0.93900603055954 prediction 0.944760283243703 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220283259 chr2:220283259 synonymous SNV . 0 21 hm5C_associated_SNPs_130136 8 Benign Dilated Cardiomyopathy, Dominant RCV000395699.1
3875 chr2 220283259 220283259 1 + A G rs1318299 220283259 - 220283239 220283279 41 GAACTCAGCGGGGAGCCGAGTGGGAAGCCCGGGGCCCCGCC GAACTCAGCGGGGAGCCGAGCGGGAAGCCCGGGGCCCCGCC Direct Gain 0 0.972380141621852 0 0.93900603055954 prediction 0.944760283243703 Functional Gain - DES ENSG00000175084 CDS Human protein_coding chr2:220283259 chr2:220283259 synonymous SNV . 0 21 hm5C_associated_SNPs_130136 8 Benign Myofibrillar Myopathy, Dominant RCV000395883.1
3875 chr10 103825336 103825336 1 + T C rs573488604 103825336 + 103825316 103825356 41 GACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCA GACTCAGCGGTCCGAGTCCGCGGCAGTCCGGACGGCCGCCA Direct Gain 0 0.969933001350523 0 0.869533538818359 prediction 0.939866002701046 Functional Gain - HPS6 ENSG00000166189 CDS Human protein_coding chr10:103825336 chr10:103825336 synonymous SNV . 0 21 hm5C_associated_SNPs_130212 2 Likely benign not specified RCV000329850.1
3875 chr10 103825336 103825336 1 + T C rs573488604 103825336 + 103825316 103825356 41 GACTCAGCGGTCCGAGTCCGTGGCAGTCCGGACGGCCGCCA GACTCAGCGGTCCGAGTCCGCGGCAGTCCGGACGGCCGCCA Direct Gain 0 0.969933001350523 0 0.869533538818359 prediction 0.939866002701046 Functional Gain - HPS6 ENSG00000166189 CDS Human protein_coding chr10:103825336 chr10:103825336 synonymous SNV . 0 21 hm5C_associated_SNPs_130212 2 Uncertain significance Hermansky-Pudlak syndrome RCV000391178.1
3875 chr11 764854 764854 1 + T C rs7939103 764854 + 764834 764874 41 AATGGAAAGTAGCGCATCCCTGAGGCTGGACTCCAGATCTG AATGGAAAGTAGCGCATCCCCGAGGCTGGACTCCAGATCTG Direct Gain 0 0.969396615470314 0 0.80142730474472 prediction 0.938793230940628 Functional Gain - TALDO1 ENSG00000177156 UTR3 Human protein_coding chr11:764854 chr11:764854 . . 0 21 hm5C_associated_SNPs_130234 1 Likely benign Deficiency of transaldolase RCV000271720.1
3875 chr9 138649179 138649179 1 + C G rs117286274 138649179 - 138649159 138649199 41 AGCCAGCAGTTCAGAAAGACGGGGATGAACAGGTTCCGCAG AGCCAGCAGTTCAGAAAGACCGGGATGAACAGGTTCCGCAG Direct Gain 0 0.968285149119294 0 0.922938466072083 prediction 0.936570298238588 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138649179 chr9:138649179 synonymous SNV . 0 21 hm5C_associated_SNPs_130267 3 Benign not specified RCV000117373.2
3875 chr9 138649179 138649179 1 + C G rs117286274 138649179 - 138649159 138649199 41 AGCCAGCAGTTCAGAAAGACGGGGATGAACAGGTTCCGCAG AGCCAGCAGTTCAGAAAGACCGGGATGAACAGGTTCCGCAG Direct Gain 0 0.968285149119294 0 0.922938466072083 prediction 0.936570298238588 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138649179 chr9:138649179 synonymous SNV . 0 21 hm5C_associated_SNPs_130267 3 Benign Early infantile epileptic encephalopathy 14 RCV000228150.2
3875 chr9 138649179 138649179 1 + C G rs117286274 138649179 - 138649159 138649199 41 AGCCAGCAGTTCAGAAAGACGGGGATGAACAGGTTCCGCAG AGCCAGCAGTTCAGAAAGACCGGGATGAACAGGTTCCGCAG Direct Gain 0 0.968285149119294 0 0.922938466072083 prediction 0.936570298238588 Functional Gain - KCNT1 ENSG00000107147 CDS Human protein_coding chr9:138649179 chr9:138649179 synonymous SNV . 0 21 hm5C_associated_SNPs_130267 3 Benign Epilepsy, nocturnal frontal lobe, 5 RCV000228150.2
3875 chr17 19579858 19579858 1 + T C rs117561472 19579858 + 19579838 19579878 41 AGCCTGTGTTCCCAGCTGCTTAGGAGGCTGAAGCAGGAGGA AGCCTGTGTTCCCAGCTGCTCAGGAGGCTGAAGCAGGAGGA Direct Gain 0 0.966294188457937 0 0.923985600471497 prediction 0.932588376915873 Functional Gain - ALDH3A2 ENSG00000072210 UTR3 Human protein_coding chr17:19579858 chr17:19579858 . . 0 21 hm5C_associated_SNPs_130342 1 Likely benign Sjögren-Larsson syndrome RCV000268925.1
3875 chr17 18054840 18054840 1 + A G STAD 18054840 - 18054820 18054860 41 GGGCAGGGGCAGTGCTGACCTGAGGGCCTCAGGCCGGCCTC GGGCAGGGGCAGTGCTGACCCGAGGGCCTCAGGCCGGCCTC Direct Gain 0 0.966240269683165 0 0.964875280857086 prediction 0.932480539366329 Functional Gain - MYO15A ENSG00000091536 CDS Human protein_coding chr17:18054840 chr17:18054840 nonsynonymous SNV 0.162 2 21 hm5C_associated_SNPs_130344 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000302655.1
3875 chr9 137734451 137734451 1 + C G rs376087882 137734451 - 137734431 137734471 41 CAGGATGGGTCGGGCGAGCTGGGGGGCTGGAGGCATGGCCC CAGGATGGGTCGGGCGAGCTCGGGGGCTGGAGGCATGGCCC Direct Gain 0 0.965630841480837 0 0.98572564125061 prediction 0.931261682961674 Functional Gain - LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137734451 chr9:137734451 . . 0 21 hm5C_associated_SNPs_130364 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000295926.1
3875 chr2 27323158 27323158 1 + G C rs60769101 27323158 + 27323138 27323178 41 AGCTGAACTGACAGGCCAGTGGGGGGCAGGGGTGCGCCTCC AGCTGAACTGACAGGCCAGTCGGGGGCAGGGGTGCGCCTCC Direct Gain 0 0.963985352575726 0 0.986602604389191 prediction 0.927970705151452 Functional Gain - KHK ENSG00000138030 UTR3 Human protein_coding chr2:27323158 chr2:27323158 . . 0 21 hm5C_associated_SNPs_130447 1 Likely benign Fructosuria, essential RCV000283938.1
3875 chr7 819695 819695 1 + A G rs61755909 819695 - 819675 819715 41 ACTGGACACTGCTCTGATAGTAGGATTTTGCGTTGGCACCC ACTGGACACTGCTCTGATAGCAGGATTTTGCGTTGGCACCC Direct Gain 0 0.963178811411566 0 0.901654601097107 prediction 0.926357622823131 Functional Gain - DNAAF5 ENSG00000164818 CDS Human protein_coding chr7:819695 chr7:819695 nonsynonymous SNV 0.027 0 21 hm5C_associated_SNPs_130483 1 Likely benign Primary ciliary dyskinesia RCV000474360.1
3875 chr1 55525313 55525313 1 + A G rs28362270 55525313 - 55525293 55525333 41 TGAGGACGTGGCCCTGTTGGTGGCAGTGGACACGGGTCCCC TGAGGACGTGGCCCTGTTGGCGGCAGTGGACACGGGTCCCC Direct Gain 0 0.960524020894135 0 0.822265982627869 prediction 0.921048041788271 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55525313 chr1:55525313 nonsynonymous SNV 0.083 0 21 hm5C_associated_SNPs_130624 2 other Hypercholesterolemia, autosomal dominant, 3 RCV000234453.2
3875 chr1 55525313 55525313 1 + A G rs28362270 55525313 - 55525293 55525333 41 TGAGGACGTGGCCCTGTTGGTGGCAGTGGACACGGGTCCCC TGAGGACGTGGCCCTGTTGGCGGCAGTGGACACGGGTCCCC Direct Gain 0 0.960524020894135 0 0.822265982627869 prediction 0.921048041788271 Functional Gain - PCSK9 ENSG00000169174 CDS Human protein_coding chr1:55525313 chr1:55525313 nonsynonymous SNV 0.083 0 21 hm5C_associated_SNPs_130624 2 Uncertain significance Familial hypercholesterolemia RCV000497017.1
3875 chr6 80816461 80816461 1 + A C rs376293687 80816461 + 80816441 80816481 41 CTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCG CTACTCAGGCTCAGGGCGGCCGGGGCTGAGGGGCACTGGCG Direct Gain 0 0.9597856955057 0 0.801218807697296 prediction 0.9195713910114 Functional Gain - BCKDHB ENSG00000083123 CDS Human protein_coding chr6:80816461 chr6:80816461 synonymous SNV . 0 21 hm5C_associated_SNPs_130665 2 Uncertain significance Maple syrup urine disease RCV000269861.1
3875 chr6 80816461 80816461 1 + A C rs376293687 80816461 + 80816441 80816481 41 CTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGCG CTACTCAGGCTCAGGGCGGCCGGGGCTGAGGGGCACTGGCG Direct Gain 0 0.9597856955057 0 0.801218807697296 prediction 0.9195713910114 Functional Gain - BCKDHB ENSG00000083123 CDS Human protein_coding chr6:80816461 chr6:80816461 synonymous SNV . 0 21 hm5C_associated_SNPs_130665 2 Uncertain significance not specified RCV000327459.1
3875 chr4 140375145 140375145 1 + G C rs13126617 140375145 + 140375125 140375165 41 GGCCGCGGGCAGGCGGCTCCGTGCGGCGGGGCGGGCGGGTG GGCCGCGGGCAGGCGGCTCCCTGCGGCGGGGCGGGCGGGTG Direct Gain 0 0.959269444447488 0 0.68423867225647 prediction 0.918538888894975 Functional Gain - RAB33B ENSG00000273247 ncRNA_exonic Human antisense chr4:140375145 chr4:140375145 . . 0 21 hm5C_associated_SNPs_130692 1 Benign Smith-McCort dysplasia RCV000315111.1
3875 chr6 157150496 157150496 1 + A G rs17318151 157150496 - 157150476 157150516 41 AGTCCGACCCTGGATGCCAATTGGATACCGCTGTGGGCCTG AGTCCGACCCTGGATGCCAACTGGATACCGCTGTGGGCCTG Direct Gain 0 0.958515719508871 0 0.898589849472046 prediction 0.917031439017742 Functional Gain - ARID1B ENSG00000049618 CDS Human protein_coding chr6:157150496 chr6:157150496 nonsynonymous SNV 0.037 0 21 hm5C_associated_SNPs_130734 1 Likely benign not specified RCV000114259.2
3875 chr9 129458781 129458781 1 + A G rs10121481 129458781 - 129458761 129458801 41 GCCAGGCTGGCCGCAGAGGCTGGCAGTCCCCCCCAGGCCCC GCCAGGCTGGCCGCAGAGGCCGGCAGTCCCCCCCAGGCCCC Direct Gain 0 0.957768384364595 0 0.684929728507996 prediction 0.91553676872919 Functional Gain - LMX1B ENSG00000136944 UTR3 Human protein_coding chr9:129458781 chr9:129458781 . . 0 21 hm5C_associated_SNPs_130780 1 Benign Nail-patella syndrome RCV000362846.1
3875 chr16 4387924 4387924 1 + T G rs189481658 4387924 - 4387904 4387944 41 AGGGGGAGCCTGGTGCTAGCAGGGAGGGCAGATGCCACCCC AGGGGGAGCCTGGTGCTAGCCGGGAGGGCAGATGCCACCCC Direct Gain 0 0.9577177053999 0 0.962738335132599 prediction 0.9154354107998 Functional Gain - GLIS2 ENSG00000126603 UTR3 Human protein_coding chr16:4387924 chr16:4387924 . . 0 21 hm5C_associated_SNPs_130783 1 Uncertain significance Nephronophthisis RCV000395139.1
3875 chr19 54410819 54410819 1 + T C rs186000310 54410819 + 54410799 54410839 41 CCCCAGTGCCTGCCACTCTCTGGGACTCTCCTCCTCCCCTC CCCCAGTGCCTGCCACTCTCCGGGACTCTCCTCCTCCCCTC Direct Gain 0 0.957486011335994 0 0.928363800048828 prediction 0.914972022671987 Functional Gain - PRKCG ENSG00000126583 UTR3 Human protein_coding chr19:54410819 chr19:54410819 . . 0 21 hm5C_associated_SNPs_130797 1 Likely benign Spinocerebellar Ataxia, Dominant RCV000299022.1
3875 chr21 46911188 46911188 1 + C G rs79980197 46911188 - 46911168 46911208 41 CCACAGGTCCCGGGGGTCCGGGGGGGCCAGGGAGGCCCGGC CCACAGGTCCCGGGGGTCCGCGGGGGCCAGGGAGGCCCGGC Direct Gain 0 0.957224667079953 0 0.957645535469055 prediction 0.914449334159906 Functional Gain - COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46911188 chr21:46911188 nonsynonymous SNV 0.004 4 21 hm5C_associated_SNPs_130815 2 Likely benign not specified RCV000248232.1
3875 chr21 46911188 46911188 1 + C G rs79980197 46911188 - 46911168 46911208 41 CCACAGGTCCCGGGGGTCCGGGGGGGCCAGGGAGGCCCGGC CCACAGGTCCCGGGGGTCCGCGGGGGCCAGGGAGGCCCGGC Direct Gain 0 0.957224667079953 0 0.957645535469055 prediction 0.914449334159906 Functional Gain - COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46911188 chr21:46911188 nonsynonymous SNV 0.004 4 21 hm5C_associated_SNPs_130815 2 Likely benign Knobloch syndrome 1 RCV000272153.1
3875 chr8 101252680 101252680 1 + T C rs6511 101252680 + 101252660 101252700 41 ACCTGCAGGGGAGGTCTCCATGGGATGCCTTGCTTCTGAGA ACCTGCAGGGGAGGTCTCCACGGGATGCCTTGCTTCTGAGA Direct Gain 0 0.957196821104117 0 0.935727596282959 prediction 0.914393642208235 Functional Gain - SPAG1 ENSG00000104450 CDS Human protein_coding chr8:101252680 chr8:101252680 nonsynonymous SNV 0.000 0 21 hm5C_associated_SNPs_130817 1 Benign not specified RCV000241788.1
3875 chr4 187113041 187113041 1 + C G rs1055138 187113041 - 187113021 187113061 41 ACTGGCGCCGGCCAGGGAAAGGGCACTCGCCGCGCCCCACA ACTGGCGCCGGCCAGGGAAACGGCACTCGCCGCGCCCCACA Direct Gain 0 0.957191773029828 0 0.857433199882507 prediction 0.914383546059657 Functional Gain - CYP4V2 ENSG00000145476 CDS Human protein_coding chr4:187113041 chr4:187113041 nonsynonymous SNV 0.000 0 21 hm5C_associated_SNPs_130818 4 other Bietti crystalline corneoretinal dystrophy RCV000032544.3
3875 chr4 187113041 187113041 1 + C G rs1055138 187113041 - 187113021 187113061 41 ACTGGCGCCGGCCAGGGAAAGGGCACTCGCCGCGCCCCACA ACTGGCGCCGGCCAGGGAAACGGCACTCGCCGCGCCCCACA Direct Gain 0 0.957191773029828 0 0.857433199882507 prediction 0.914383546059657 Functional Gain - CYP4V2 ENSG00000145476 CDS Human protein_coding chr4:187113041 chr4:187113041 nonsynonymous SNV 0.000 0 21 hm5C_associated_SNPs_130818 4 Benign not specified RCV000082840.5
3875 chr4 187113041 187113041 1 + C G rs1055138 187113041 - 187113021 187113061 41 ACTGGCGCCGGCCAGGGAAAGGGCACTCGCCGCGCCCCACA ACTGGCGCCGGCCAGGGAAACGGCACTCGCCGCGCCCCACA Direct Gain 0 0.957191773029828 0 0.857433199882507 prediction 0.914383546059657 Functional Gain - CYP4V2 ENSG00000145476 CDS Human protein_coding chr4:187113041 chr4:187113041 nonsynonymous SNV 0.000 0 21 hm5C_associated_SNPs_130818 4 Likely benign not provided RCV000132719.1
3875 chr4 187113041 187113041 1 + C G rs1055138 187113041 - 187113021 187113061 41 ACTGGCGCCGGCCAGGGAAAGGGCACTCGCCGCGCCCCACA ACTGGCGCCGGCCAGGGAAACGGCACTCGCCGCGCCCCACA Direct Gain 0 0.957191773029828 0 0.857433199882507 prediction 0.914383546059657 Functional Gain - CYP4V2 ENSG00000145476 CDS Human protein_coding chr4:187113041 chr4:187113041 nonsynonymous SNV 0.000 0 21 hm5C_associated_SNPs_130818 4 Benign Corneal Dystrophy, Recessive RCV000278726.1
3875 chr4 186069082 186069082 1 + T C rs11930741 186069082 + 186069062 186069102 41 AGGCAGAGGTTGCAGTGAGCTGAGATGGCATGCCACCACAT AGGCAGAGGTTGCAGTGAGCCGAGATGGCATGCCACCACAT Direct Gain 0 0.956304327187857 0 0.745459198951721 prediction 0.912608654375714 Functional Gain - SLC25A4 ENSG00000151729 UTR3 Human protein_coding chr4:186069082 chr4:186069082 . . 0 21 hm5C_associated_SNPs_130872 1 Likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000317345.1
3875 chr20 4680497 4680497 1 + G C LUAD 4680497 + 4680477 4680517 41 AGATGATGGAGCGCGTGGTTGAGCAGATGTGTATCACCCAG AGATGATGGAGCGCGTGGTTCAGCAGATGTGTATCACCCAG Direct Gain 0 0.956137901516318 0 0.719736933708191 prediction 0.912275803032635 Functional Gain - PRNP ENSG00000171867 CDS Human protein_coding chr20:4680497 chr20:4680497 nonsynonymous SNV 0.986 4 21 hm5C_associated_SNPs_130886 1 Pathogenic Jakob-Creutzfeldt disease RCV000074468.15
3875 chr22 32894453 32894453 1 + A G rs144538200 32894453 - 32894433 32894473 41 GTCTAAAGGGAAATCTGTCATTGGGGCCGCCTCGCCCTGGC GTCTAAAGGGAAATCTGTCACTGGGGCCGCCTCGCCCTGGC Direct Gain 0 0.954447145397003 0 0.838133871555328 prediction 0.908894290794006 Functional Gain - FBXO7 ENSG00000100225 CDS Human protein_coding chr22:32894453 chr22:32894453 nonsynonymous SNV 0.306 0 21 hm5C_associated_SNPs_131003 1 Uncertain significance Parkinson Disease, Recessive RCV000263188.1
3875 chr10 26223173 26223173 1 + C G rs188597967 26223173 - 26223153 26223193 41 AGGGGCGGGCAGGGGCAGCCGAGCAGGGGAAGAACTGGGCC AGGGGCGGGCAGGGGCAGCCCAGCAGGGGAAGAACTGGGCC Direct Gain 0 0.953718066794394 0 0.775470554828644 prediction 0.907436133588788 Functional Gain - MYO3A ENSG00000095777;ENSG00000226304 upstream Human other chr10:26223173 chr10:26223173 . . 0 21 hm5C_associated_SNPs_131046 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000366693.1
3875 chr16 55536763 55536763 1 + C G rs11541998 55536763 - 55536743 55536783 41 ACGACGGCATCCAGGTTATCGGGGATGGCATTCCAGGCATC ACGACGGCATCCAGGTTATCCGGGATGGCATTCCAGGCATC Direct Gain 0 0.951910663377839 0 0.888224601745605 prediction 0.903821326755678 Functional Gain - MMP2 ENSG00000087245 CDS Human protein_coding chr16:55536763 chr16:55536763 synonymous SNV . 0 21 hm5C_associated_SNPs_131162 1 Likely benign Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000369627.1
3875 chr10 124768449 124768449 1 + T C rs148327034 124768449 + 124768429 124768469 41 AGGGATTAAGGGGGGGTGTGTGCGGGGCGGGTACTGAGTGG AGGGATTAAGGGGGGGTGTGCGCGGGGCGGGTACTGAGTGG Direct Gain 0 0.951400152371823 0 0.824036359786987 prediction 0.902800304743646 Functional Gain - ACADSB ENSG00000095574;ENSG00000196177 upstream Human other chr10:124768449 chr10:124768449 . . 0 21 hm5C_associated_SNPs_131209 1 Uncertain significance Deficiency of 2-methylbutyryl-CoA dehydrogenase RCV000269379.1
3875 chr9 134398946 134398946 1 + T C rs11005 134398946 + 134398926 134398966 41 AGCGAGCCCGGCAGGCGTCCTGGGACAGCTCAGTGTTGGAG AGCGAGCCCGGCAGGCGTCCCGGGACAGCTCAGTGTTGGAG Direct Gain 0 0.950684975411934 0 0.809631824493408 prediction 0.901369950823868 Functional Gain - POMT1 ENSG00000130714 UTR3 Human protein_coding chr9:134398946 chr9:134398946 . . 0 21 hm5C_associated_SNPs_131255 1 Benign Limb-Girdle Muscular Dystrophy, Recessive RCV000371769.1
3875 chr17 42148182 42148182 1 + T C rs149756661 42148182 + 42148162 42148202 41 TTGCAGGAGCGGGGGACTGCTGGGGGCGGGGCTTGGTGGTG TTGCAGGAGCGGGGGACTGCCGGGGGCGGGGCTTGGTGGTG Direct Gain 0 0.950507548210536 0 0.965040504932404 prediction 0.901015096421072 Functional Gain - G6PC3 ENSG00000141349 UTR5 Human protein_coding chr17:42148182 chr17:42148182 . . 0 21 hm5C_associated_SNPs_131271 1 Likely benign Severe congenital neutropenia RCV000402452.1
3875 chr16 88497446 88497446 1 + A G rs7197071 88497446 - 88497426 88497466 41 TGAGGGGCGATCAGCACACTTGGGGCCTCCCTCCCTGGCGG TGAGGGGCGATCAGCACACTCGGGGCCTCCCTCCCTGGCGG Direct Gain 0 0.950207821644997 0 0.875059485435486 prediction 0.900415643289993 Functional Gain - ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88497446 chr16:88497446 nonsynonymous SNV 0.000 0 21 hm5C_associated_SNPs_131289 2 Benign not specified RCV000303459.2
3875 chr16 88497446 88497446 1 + A G rs7197071 88497446 - 88497426 88497466 41 TGAGGGGCGATCAGCACACTTGGGGCCTCCCTCCCTGGCGG TGAGGGGCGATCAGCACACTCGGGGCCTCCCTCCCTGGCGG Direct Gain 0 0.950207821644997 0 0.875059485435486 prediction 0.900415643289993 Functional Gain - ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88497446 chr16:88497446 nonsynonymous SNV 0.000 0 21 hm5C_associated_SNPs_131289 2 Benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility RCV000393906.1
3875 chr14 64681103 64681103 1 + C G rs150363140 64681103 - 64681083 64681123 41 CCTGTGTGGTCCCACTCCAGGGGGATGGAGTCCACGCTGAC CCTGTGTGGTCCCACTCCAGCGGGATGGAGTCCACGCTGAC Direct Gain 0 0.950201826462467 0 0.945019483566284 prediction 0.900403652924934 Functional Gain - SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64681103 chr14:64681103 synonymous SNV . 0 21 hm5C_associated_SNPs_131292 2 Likely benign not specified RCV000282709.1
3875 chr14 64681103 64681103 1 + C G rs150363140 64681103 - 64681083 64681123 41 CCTGTGTGGTCCCACTCCAGGGGGATGGAGTCCACGCTGAC CCTGTGTGGTCCCACTCCAGCGGGATGGAGTCCACGCTGAC Direct Gain 0 0.950201826462467 0 0.945019483566284 prediction 0.900403652924934 Functional Gain - SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64681103 chr14:64681103 synonymous SNV . 0 21 hm5C_associated_SNPs_131292 2 Likely benign Emery-Dreifuss muscular dystrophy RCV000317602.1
3875 chr2 71163111 71163111 1 + T C rs17853498 71163111 + 71163091 71163131 41 ATGGAGATAGACAGCAGGCCTGGGGGGCTCCCCGGCAGTAG ATGGAGATAGACAGCAGGCCCGGGGGGCTCCCCGGCAGTAG Direct Gain 0 0.948764693697199 0 0.779722809791565 prediction 0.897529387394397 Functional Gain - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163111 chr2:71163111 synonymous SNV . 0 21 hm5C_associated_SNPs_131404 2 Benign not specified RCV000037206.2
3875 chr2 71163111 71163111 1 + T C rs17853498 71163111 + 71163091 71163131 41 ATGGAGATAGACAGCAGGCCTGGGGGGCTCCCCGGCAGTAG ATGGAGATAGACAGCAGGCCCGGGGGGCTCCCCGGCAGTAG Direct Gain 0 0.948764693697199 0 0.779722809791565 prediction 0.897529387394397 Functional Gain - ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163111 chr2:71163111 synonymous SNV . 0 21 hm5C_associated_SNPs_131404 2 Benign Renal tubular acidosis with progressive nerve deafness RCV000404834.1
3875 chr11 61213920 61213920 1 + T C rs17702 61213920 + 61213900 61213940 41 AGCCAGCTGTGCGTGCTGTATGGAAAGCCTCCCGCCCTCCC AGCCAGCTGTGCGTGCTGTACGGAAAGCCTCCCGCCCTCCC Direct Gain 0 0.948439927491965 0 0.851571500301361 prediction 0.89687985498393 Functional Gain - SDHAF2 ENSG00000167985 UTR3 Human protein_coding chr11:61213920 chr11:61213920 . . 0 21 hm5C_associated_SNPs_131422 1 Benign Pheochromocytoma RCV000364678.1
3875 chr16 11018622 11018622 1 + T C rs1139564 11018622 + 11018602 11018642 41 CTTAGCAGGGAAACAGCTAATGGGACACTAATGGGGCGGTG CTTAGCAGGGAAACAGCTAACGGGACACTAATGGGGCGGTG Direct Gain 0 0.948388341037685 0 0.884210169315338 prediction 0.89677668207537 Functional Gain - CIITA ENSG00000179583 UTR3 Human protein_coding chr16:11018622 chr16:11018622 . . 0 21 hm5C_associated_SNPs_131429 1 Benign SCID due to absent class II HLA antigens RCV000315324.1
3875 chr14 60975943 60975943 1 + C G rs531110837 60975943 - 60975923 60975963 41 GGAGCGGACGACCCCGACTGGAGGAGGTGCTGGCTCCGCGG GGAGCGGACGACCCCGACTGCAGGAGGTGCTGGCTCCGCGG Direct Gain 0 0.946927998985973 0 0.898682951927185 prediction 0.893855997971946 Functional Gain - SIX6 ENSG00000184302 UTR5 Human protein_coding chr14:60975943 chr14:60975943 . . 0 21 hm5C_associated_SNPs_131563 1 Uncertain significance Anophthalmia - microphthalmia RCV000300322.1
3875 chr3 129253486 129253486 1 + T C rs60645924 129253486 + 129253466 129253506 41 GTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCT GTTCCCAATGAGGGTGAGATCGGGCCTGGGGTCTCACCCCT Direct Gain 0 0.945979841478533 0 0.915516018867493 prediction 0.891959682957066 Functional Gain - RHO ENSG00000163914 UTR3 Human protein_coding chr3:129253486 chr3:129253486 . . 0 21 hm5C_associated_SNPs_131640 2 Benign Retinitis Pigmentosa, Dominant/Recessive RCV000315458.1
3875 chr3 129253486 129253486 1 + T C rs60645924 129253486 + 129253466 129253506 41 GTTCCCAATGAGGGTGAGATTGGGCCTGGGGTCTCACCCCT GTTCCCAATGAGGGTGAGATCGGGCCTGGGGTCTCACCCCT Direct Gain 0 0.945979841478533 0 0.915516018867493 prediction 0.891959682957066 Functional Gain - RHO ENSG00000163914 UTR3 Human protein_coding chr3:129253486 chr3:129253486 . . 0 21 hm5C_associated_SNPs_131640 2 Benign Congenital Stationary Night Blindness, Dominant RCV000396566.1
3875 chr15 33023098 33023098 1 + C G rs2280738 33023098 - 33023078 33023118 41 GACTCCAGCACCTCCTCCCCGGGCATGGCAGTGCCCCGCCC GACTCCAGCACCTCCTCCCCCGGCATGGCAGTGCCCCGCCC Direct Gain 0 0.945812819248042 0 0.927231431007385 prediction 0.891625638496083 Functional Gain - GREM1 ENSG00000166923 CDS Human protein_coding chr15:33023098 chr15:33023098 synonymous SNV . 0 21 hm5C_associated_SNPs_131656 1 Benign not specified RCV000454615.1
3875 chr16 11009462 11009462 1 + A G rs140103491 11009462 - 11009442 11009482 41 CCGTGAGGATCCGCACCAGTTTGGGGAAAGCCTGGGGGCCT CCGTGAGGATCCGCACCAGTCTGGGGAAAGCCTGGGGGCCT Direct Gain 0 0.945623879583829 0 0.892830014228821 prediction 0.891247759167658 Functional Gain - CIITA ENSG00000179583 CDS Human protein_coding chr16:11009462 chr16:11009462 nonsynonymous SNV 0.975 0 21 hm5C_associated_SNPs_131679 1 Likely benign SCID due to absent class II HLA antigens RCV000298520.1
3875 chr7 137802696 137802696 1 + A C rs554615032 137802696 + 137802676 137802716 41 AATGGCATGAACCCGGGAGGAGGAGCTTGCAGTGAGCCGAG AATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG Direct Gain 0 0.945350161447171 0 0.784928560256958 prediction 0.890700322894342 Functional Gain - AKR1D1 ENSG00000122787 UTR3 Human protein_coding chr7:137802696 chr7:137802696 . . 0 21 hm5C_associated_SNPs_131710 1 Uncertain significance Congenital Bile Acid Synthesis Defect RCV000402846.1
3875 chr17 8192649 8192649 1 + T C rs138959557 8192649 + 8192629 8192669 41 AGTCTGTTCAGCCTCTCAGTTTGGAGAACCTGGCCCTGAGG AGTCTGTTCAGCCTCTCAGTCTGGAGAACCTGGCCCTGAGG Direct Gain 0 0.944780712044552 0 0.959593296051025 prediction 0.889561424089104 Functional Gain - RANGRF ENSG00000108961 CDS Human protein_coding chr17:8192649 chr17:8192649 synonymous SNV . 0 21 hm5C_associated_SNPs_131762 2 Benign not specified RCV000272471.1
3875 chr17 8192649 8192649 1 + T C rs138959557 8192649 + 8192629 8192669 41 AGTCTGTTCAGCCTCTCAGTTTGGAGAACCTGGCCCTGAGG AGTCTGTTCAGCCTCTCAGTCTGGAGAACCTGGCCCTGAGG Direct Gain 0 0.944780712044552 0 0.959593296051025 prediction 0.889561424089104 Functional Gain - RANGRF ENSG00000108961 CDS Human protein_coding chr17:8192649 chr17:8192649 synonymous SNV . 0 21 hm5C_associated_SNPs_131762 2 Benign Cardiac arrhythmia RCV000460683.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933445 + 75933425 75933465 41 TTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAA TTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAGCTGCAAA Direct Gain 0 0.944690186383594 0 0.951434850692749 prediction 0.889380372767189 Functional Gain - HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933445 chr7:75933445 synonymous SNV . 0 21 hm5C_associated_SNPs_131769 2 Likely benign not specified RCV000439558.1
3875 chr7 75933445 75933445 1 + T C rs34771861 75933445 + 75933425 75933465 41 TTCGAGTCGCGGGCCCAGCTTGGGGGCCCAGAAGCTGCAAA TTCGAGTCGCGGGCCCAGCTCGGGGGCCCAGAAGCTGCAAA Direct Gain 0 0.944690186383594 0 0.951434850692749 prediction 0.889380372767189 Functional Gain - HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75933445 chr7:75933445 synonymous SNV . 0 21 hm5C_associated_SNPs_131769 2 Benign Charcot-Marie-Tooth disease type 2F RCV000475381.1
3875 chr1 220267669 220267669 1 + G C rs116823205 220267669 + 220267649 220267689 41 CCGGGATGGCAAGGGGCGACGAAGAGGCTTCTGGTGCGGTC CCGGGATGGCAAGGGGCGACCAAGAGGCTTCTGGTGCGGTC Direct Gain 0 0.943442685841434 0 0.908679187297821 prediction 0.886885371682868 Functional Gain - IARS2 ENSG00000067704 CDS Human protein_coding chr1:220267669 chr1:220267669 synonymous SNV . 0 21 hm5C_associated_SNPs_131882 1 Benign not specified RCV000431155.1
3875 chr12 121437382 121437382 1 + A G rs1169305 121437382 - 121437362 121437402 41 CGGCTGCAGGTGCTGGATGCTGGCAGGGTCCTGGCTGGGGA CGGCTGCAGGTGCTGGATGCCGGCAGGGTCCTGGCTGGGGA Direct Gain 0 0.943136016569335 0 0.905516862869263 prediction 0.88627203313867 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121437382 chr12:121437382 nonsynonymous SNV 0.047 1 21 hm5C_associated_SNPs_131904 4 Pathogenic Maturity-onset diabetes of the young, type 3 RCV000016077.25
3875 chr12 121437382 121437382 1 + A G rs1169305 121437382 - 121437362 121437402 41 CGGCTGCAGGTGCTGGATGCTGGCAGGGTCCTGGCTGGGGA CGGCTGCAGGTGCTGGATGCCGGCAGGGTCCTGGCTGGGGA Direct Gain 0 0.943136016569335 0 0.905516862869263 prediction 0.88627203313867 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121437382 chr12:121437382 nonsynonymous SNV 0.047 1 21 hm5C_associated_SNPs_131904 4 Benign,not provided not specified,Maturity-onset diabetes of the young, type 3 RCV000438436.1,RCV000030490.2
3875 chr12 121437382 121437382 1 + A G rs1169305 121437382 - 121437362 121437402 41 CGGCTGCAGGTGCTGGATGCTGGCAGGGTCCTGGCTGGGGA CGGCTGCAGGTGCTGGATGCCGGCAGGGTCCTGGCTGGGGA Direct Gain 0 0.943136016569335 0 0.905516862869263 prediction 0.88627203313867 Functional Gain - HNF1A ENSG00000135100 CDS Human protein_coding chr12:121437382 chr12:121437382 nonsynonymous SNV 0.047 1 21 hm5C_associated_SNPs_131904 4 Benign not specified RCV000121200.1
3875 chr7 137802678 137802678 1 + T C rs184548096 137802678 + 137802658 137802698 41 AGGAGGCTGAGGCAGAAGAATGGCATGAACCCGGGAGGAGG AGGAGGCTGAGGCAGAAGAACGGCATGAACCCGGGAGGAGG Direct Gain 0 0.942655794039542 0 0.48495477437973 prediction 0.885311588079084 Functional Gain - AKR1D1 ENSG00000122787 UTR3 Human protein_coding chr7:137802678 chr7:137802678 . . 0 21 hm5C_associated_SNPs_131953 1 Uncertain significance Congenital Bile Acid Synthesis Defect RCV000404810.1
3875 chr12 48535153 48535153 1 + T C rs554664722 48535153 + 48535133 48535173 41 GGCCAAGGTGGCTCTAAACTTGGGACTAAAAGGTAAGTAGC GGCCAAGGTGGCTCTAAACTCGGGACTAAAAGGTAAGTAGC Direct Gain 0 0.942314212527739 0 0.94495415687561 prediction 0.884628425055479 Functional Gain - PFKM ENSG00000152556 CDS Human protein_coding chr12:48535153 chr12:48535153 synonymous SNV . 0 21 hm5C_associated_SNPs_131983 1 Likely benign not specified RCV000422013.1
3875 chr2 113821653 113821653 1 + T C rs768627 113821653 + 113821633 113821673 41 GGACACAGAGACAGAGGAGATGCGGGGAAGACTATGTAAAG GGACACAGAGACAGAGGAGACGCGGGGAAGACTATGTAAAG Direct Gain 0 0.941838449366073 0 0.750057816505432 prediction 0.883676898732146 Functional Gain - IL36RN ENSG00000136695 UTR3 Human protein_coding chr2:113821653 chr2:113821653 . . 0 21 hm5C_associated_SNPs_132025 1 Benign Pustular psoriasis, generalized RCV000361128.1
3875 chr11 62439554 62439554 1 + G C rs55638384 62439554 + 62439534 62439574 41 GGAAGAACTGGATGGTTGGCGGCGAAGGCGGCGCCGGCGGG GGAAGAACTGGATGGTTGGCCGCGAAGGCGGCGCCGGCGGG Direct Gain 0 0.941668003381784 0 0.659370720386505 prediction 0.883336006763568 Functional Gain - UQCC3 ENSG00000204922 CDS Human protein_coding chr11:62439554 chr11:62439554 nonsynonymous SNV 0.111 1 21 hm5C_associated_SNPs_132043 1 Benign not specified RCV000445211.1
3875 chr15 77324734 77324734 1 + C G rs149195362 77324734 - 77324714 77324754 41 TCCGCAAGCCGGACCTCACCGGGGGGCTCTGTGCCCGTGCT TCCGCAAGCCGGACCTCACCCGGGGGCTCTGTGCCCGTGCT Direct Gain 0 0.941643173297095 0 0.932007670402527 prediction 0.883286346594191 Functional Gain - PSTPIP1 ENSG00000140368 CDS Human protein_coding chr15:77324734 chr15:77324734 synonymous SNV . 0 21 hm5C_associated_SNPs_132046 1 Likely benign not specified RCV000442119.1
3875 chr11 6411784 6411784 1 + G C rs79282481 6411784 + 6411764 6411804 41 GCTGGCTAGGGTCCAGGCCGGGGGGGACGGGACAGACGAAC GCTGGCTAGGGTCCAGGCCGCGGGGGACGGGACAGACGAAC Direct Gain 0 0.941624855646006 0 0.951911330223083 prediction 0.883249711292013 Functional Gain - SMPD1 ENSG00000166311 UTR5 Human protein_coding chr11:6411784 chr11:6411784 . . 0 21 hm5C_associated_SNPs_132049 1 Likely benign Sphingomyelin/cholesterol lipidosis RCV000395997.1
3875 chr10 99498313 99498313 1 + C G rs34979921 99498313 - 99498293 99498333 41 TGGGGACTTGGTAGGAAAAGGTGGAGACTCCAGGGGAGCCT TGGGGACTTGGTAGGAAAAGCTGGAGACTCCAGGGGAGCCT Direct Gain 0 0.941388902644256 0 0.568719387054443 prediction 0.882777805288511 Functional Gain - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99498313 chr10:99498313 nonsynonymous SNV 0.008 1 21 hm5C_associated_SNPs_132077 2 Likely benign Spastic Paraplegia, Dominant RCV000324523.1
3875 chr10 99498313 99498313 1 + C G rs34979921 99498313 - 99498293 99498333 41 TGGGGACTTGGTAGGAAAAGGTGGAGACTCCAGGGGAGCCT TGGGGACTTGGTAGGAAAAGCTGGAGACTCCAGGGGAGCCT Direct Gain 0 0.941388902644256 0 0.568719387054443 prediction 0.882777805288511 Functional Gain - ZFYVE27 ENSG00000155256 CDS Human protein_coding chr10:99498313 chr10:99498313 nonsynonymous SNV 0.008 1 21 hm5C_associated_SNPs_132077 2 Benign Spastic paraplegia RCV000462621.1
3875 chr18 32400833 32400833 1 + A G rs141981161 32400833 - 32400813 32400853 41 CTCAGGCTGATCTGGGAACATGGGGTGCAAAGGTTCACGGC CTCAGGCTGATCTGGGAACACGGGGTGCAAAGGTTCACGGC Direct Gain 0 0.941025327437963 0 0.926503300666809 prediction 0.882050654875925 Functional Gain - DTNA ENSG00000134769 CDS Human protein_coding chr18:32400833 chr18:32400833 nonsynonymous SNV 1.000 1 21 hm5C_associated_SNPs_132122 1 Uncertain significance not provided RCV000171930.1
3875 chr3 119133135 119133135 1 + C G rs186621177 119133135 - 119133115 119133155 41 CTCCTCCAGAGGAGTTGGAGGGGGAGGAGCAGGTGGGAGTG CTCCTCCAGAGGAGTTGGAGCGGGAGGAGCAGGTGGGAGTG Direct Gain 0 0.940737551072724 0 0.977058529853821 prediction 0.881475102145449 Functional Gain - ARHGAP31 ENSG00000031081 CDS Human protein_coding chr3:119133135 chr3:119133135 nonsynonymous SNV 0.994 4 21 hm5C_associated_SNPs_132155 1 Likely benign Adams-Oliver syndrome RCV000331414.1
3875 chr17 57184046 57184046 1 + T C rs11541295 57184046 + 57184026 57184066 41 CCCGCCCCGAGGCGCAGAAGTAGGGCGAACGGTGGCCGCAG CCCGCCCCGAGGCGCAGAAGCAGGGCGAACGGTGGCCGCAG Direct Gain 0 0.939747477401068 0 0.968027234077454 prediction 0.879494954802136 Functional Gain - TRIM37 ENSG00000224738 ncRNA_exonic Human antisense chr17:57184046 chr17:57184046 . . 0 21 hm5C_associated_SNPs_132238 1 Likely benign Mulibrey nanism syndrome RCV000361750.1