1 chr1 218615451 218615451 1 + A C rs991967 218615451 + 218615431 218615471 41 AAGGTCCAAAAACTAAAAAGACTGTTAATAAAAGAAACTTT AAGGTCCAAAAACTAAAAAGCCTGTTAATAAAAGAAACTTT Direct Loss 1 0.311415898627047 1 0.967139363288879 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 21 MIR548F3 ENSG00000092969 UTR3 Human protein_coding chr1:218615451 chr1:218615451 . . 0 hm6A_associated_SNPs_30 1 Benign Loeys-Dietz syndrome RCV000357212.1
2 chr1 236646627 236646627 1 + A C rs61740488 236646627 + 236646607 236646647 41 AGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGT AGCTCCAGGACAATGATAAGCCTCGCTATATGGGGAAGGGT Direct Loss 1 0.367575803136821 1 0.941663980484009 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 21 EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236646627 chr1:236646627 . . 0 hm6A_associated_SNPs_34 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000369022.1
3 chr2 109381438 109381438 1 + A G rs61748149 109381438 + 109381418 109381458 41 GTTTTTTCTACAAAGGAAGGACAGTGGGATTGCAGTGCATG GTTTTTTCTACAAAGGAAGGGCAGTGGGATTGCAGTGCATG Direct Loss 1 0.962951650903552 1 0.94282066822052 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 RANBP2 ENSG00000153201 CDS Human protein_coding chr2:109381438 chr2:109381438 synonymous SNV . 0 hm6A_associated_SNPs_47 1 Benign not specified RCV000419571.1
4 chr3 14184074 14184074 1 + A C rs13069 14184074 + 14184054 14184094 41 TTAAAAACAAAACAAAAAAAACACTTAATATTTCAGACTGT TTAAAAACAAAACAAAAAAACCACTTAATATTTCAGACTGT Direct Loss 1 0.505839819438524 1 0.904426217079163 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184074 chr3:14184074 . . 0 hm6A_associated_SNPs_61 2 Likely benign Xeroderma pigmentosum RCV000287769.1
5 chr3 14184074 14184074 1 + A C rs13069 14184074 + 14184054 14184094 41 TTAAAAACAAAACAAAAAAAACACTTAATATTTCAGACTGT TTAAAAACAAAACAAAAAAACCACTTAATATTTCAGACTGT Direct Loss 1 0.505839819438524 1 0.904426217079163 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184074 chr3:14184074 . . 0 hm6A_associated_SNPs_61 2 Likely benign Cardiomyopathy, ARVC RCV000296687.1
6 chr4 159627902 159627902 1 + A G rs143015234 159627902 + 159627882 159627922 41 CTGAGTGGTACTAATCATGAACATGACCAGCCGGCACACTT CTGAGTGGTACTAATCATGAGCATGACCAGCCGGCACACTT Direct Loss 1 0.769548430697651 1 0.910425901412964 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 21 ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627902 chr4:159627902 synonymous SNV . 0 hm6A_associated_SNPs_96 1 Uncertain significance Glutaric aciduria, type 2 RCV000370319.1
7 chr4 184615117 184615117 1 + A C rs62358032 184615117 + 184615097 184615137 41 CTCACGTGACTCTTCATGGAACAGAACTGTGTGATGAATCC CTCACGTGACTCTTCATGGACCAGAACTGTGTGATGAATCC Direct Loss 1 0.395928053524712 1 0.965961813926697 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 21 TRAPPC11 ENSG00000168538 CDS Human protein_coding chr4:184615117 chr4:184615117 nonsynonymous SNV 0.805 0 hm6A_associated_SNPs_99 1 Benign not specified RCV000244013.1
8 chr5 35877914 35877914 1 + A G rs10491434 35877914 + 35877894 35877934 41 AGACTGACTTCTAATGACTAACTCAAAGTCAAGGCAACTGA AGACTGACTTCTAATGACTAGCTCAAAGTCAAGGCAACTGA Direct Loss 1 0.427759767555388 1 0.732356667518616 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 21 IL7R ENSG00000168685 UTR3 Human protein_coding chr5:35877914 chr5:35877914 . . 0 hm6A_associated_SNPs_102 1 Benign Severe Combined Immune Deficiency RCV000293662.1
9 chr5 82835545 82835545 1 + A G rs160279 82835545 + 82835525 82835565 41 CATTTTCCGAAAGGCATGAGACCAACAATTCAAGAGTCAGA CATTTTCCGAAAGGCATGAGGCCAACAATTCAAGAGTCAGA Direct Loss 1 0.37371917684739 1 0.967231690883636 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 21 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835545 chr5:82835545 synonymous SNV . 0 hm6A_associated_SNPs_106 3 Benign not specified RCV000180248.2
10 chr5 82835545 82835545 1 + A G rs160279 82835545 + 82835525 82835565 41 CATTTTCCGAAAGGCATGAGACCAACAATTCAAGAGTCAGA CATTTTCCGAAAGGCATGAGGCCAACAATTCAAGAGTCAGA Direct Loss 1 0.37371917684739 1 0.967231690883636 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 21 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835545 chr5:82835545 synonymous SNV . 0 hm6A_associated_SNPs_106 3 Benign Vitreoretinopathy RCV000302059.1
11 chr5 82835545 82835545 1 + A G rs160279 82835545 + 82835525 82835565 41 CATTTTCCGAAAGGCATGAGACCAACAATTCAAGAGTCAGA CATTTTCCGAAAGGCATGAGGCCAACAATTCAAGAGTCAGA Direct Loss 1 0.37371917684739 1 0.967231690883636 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 21 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835545 chr5:82835545 synonymous SNV . 0 hm6A_associated_SNPs_106 3 Benign Wagner syndrome RCV000338406.1
12 chr5 82876983 82876983 1 + A G rs8061 82876983 + 82876963 82877003 41 GGACTTTTCTGTAACCAGGAACATTTTTTAGGGGTCAAAGT GGACTTTTCTGTAACCAGGAGCATTTTTTAGGGGTCAAAGT Direct Loss 1 0.533310983686914 1 0.875460147857666 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82876983 chr5:82876983 . . 0 hm6A_associated_SNPs_107 2 Benign Wagner syndrome RCV000273425.1
13 chr5 82876983 82876983 1 + A G rs8061 82876983 + 82876963 82877003 41 GGACTTTTCTGTAACCAGGAACATTTTTTAGGGGTCAAAGT GGACTTTTCTGTAACCAGGAGCATTTTTTAGGGGTCAAAGT Direct Loss 1 0.533310983686914 1 0.875460147857666 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82876983 chr5:82876983 . . 0 hm6A_associated_SNPs_107 2 Benign Vitreoretinopathy RCV000383135.1
14 chr5 138665490 138665490 1 + A G rs185734839 138665490 + 138665470 138665510 41 TTTTATTACTTTCATCTGAAACATTCCATGTTTTAATCTGA TTTTATTACTTTCATCTGAAGCATTCCATGTTTTAATCTGA Direct Loss 1 0.539037475547247 1 0.837240040302277 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 21 MATR3 ENSG00000015479 UTR3 Human protein_coding chr5:138665490 chr5:138665490 . . 0 hm6A_associated_SNPs_111 1 Likely benign Distal myopathy RCV000325460.1
15 chr5 176638587 176638587 1 + A G rs193290006 176638587 + 176638567 176638607 41 TGAATCAGCTTCCAAGTGTGACTCTTGATGCTGTACTGCAG TGAATCAGCTTCCAAGTGTGGCTCTTGATGCTGTACTGCAG Direct Loss 1 0.85669587274572 1 0.997444927692413 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 21 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176638587 chr5:176638587 nonsynonymous SNV 0.021 2 hm6A_associated_SNPs_118 1 Benign not specified RCV000082118.5
16 chr7 116437504 116437504 1 + A G rs41739 116437504 + 116437484 116437524 41 AAGCAAAACATACTTTAGAAACAAATGAAAAAGGCAATTGA AAGCAAAACATACTTTAGAAGCAAATGAAAAAGGCAATTGA Direct Loss 1 0.362134655244401 1 0.486319959163666 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 MET ENSG00000105976 UTR3 Human protein_coding chr7:116437504 chr7:116437504 . . 0 hm6A_associated_SNPs_149 1 Benign Renal cell carcinoma, papillary, 1 RCV000401260.1
17 chr9 21862271 21862271 1 + A C rs15735 21862271 + 21862251 21862291 41 ATTTTAAGGGGGAAAAAAAAACCCACCATTCTCTTCTCCCC ATTTTAAGGGGGAAAAAAAACCCCACCATTCTCTTCTCCCC Direct Loss 1 0.446495919334353 1 0.382760345935822 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 21 MTAP ENSG00000099810 UTR3 Human protein_coding chr9:21862271 chr9:21862271 . . 0 hm6A_associated_SNPs_165 1 Benign Diaphyseal medullary stenosis with malignant fibrous histiocytoma RCV000367107.1
18 chr10 73769084 73769084 1 + A C rs181471425 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGCCTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.60396134853363 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 21 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769084 . . 0 hm6A_associated_SNPs_191 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000312843.1
19 chr10 73769084 73769084 1 + A C rs181471425 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGCCTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.60396134853363 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 21 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769084 . . 0 hm6A_associated_SNPs_191 4 Uncertain significance Skeletal dysplasia RCV000346707.1
20 chr10 73769084 73769084 1 + A C rs181471425 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGCCTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.60396134853363 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 21 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769084 . . 0 hm6A_associated_SNPs_191 4 Uncertain significance Larsen syndrome RCV000390324.1
21 chr10 73769084 73769084 1 + A C rs181471425 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGCCTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.60396134853363 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 21 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769084 . . 0 hm6A_associated_SNPs_191 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000395294.1
22 chr11 75283253 75283253 1 + A G rs9175 75283253 + 75283233 75283273 41 CATGGGGTGGGGGTGGAAAAACAGACCGGGGTTCCCGTGTG CATGGGGTGGGGGTGGAAAAGCAGACCGGGGTTCCCGTGTG Direct Loss 1 0.548714925664185 1 0.833921849727631 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 21 SERPINH1 ENSG00000149257 UTR3 Human protein_coding chr11:75283253 chr11:75283253 . . 0 hm6A_associated_SNPs_214 1 Benign Osteogenesis Imperfecta, Recessive RCV000342722.1
23 chr11 103027234 103027234 1 + A G rs17301750 103027234 + 103027214 103027254 41 ATGAAGACAGCCAAAGTCGAACTATGAAGCTGATTAAAGAC ATGAAGACAGCCAAAGTCGAGCTATGAAGCTGATTAAAGAC Direct Loss 1 0.221782094048516 1 0.967640817165375 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 21 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027234 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_219 3 Likely benign Short Rib Polydactyly Syndrome RCV000275553.1
24 chr11 103027234 103027234 1 + A G rs17301750 103027234 + 103027214 103027254 41 ATGAAGACAGCCAAAGTCGAACTATGAAGCTGATTAAAGAC ATGAAGACAGCCAAAGTCGAGCTATGAAGCTGATTAAAGAC Direct Loss 1 0.221782094048516 1 0.967640817165375 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 21 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027234 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_219 3 Likely benign Jeune thoracic dystrophy RCV000367404.1
25 chr11 103027234 103027234 1 + A G rs17301750 103027234 + 103027214 103027254 41 ATGAAGACAGCCAAAGTCGAACTATGAAGCTGATTAAAGAC ATGAAGACAGCCAAAGTCGAGCTATGAAGCTGATTAAAGAC Direct Loss 1 0.221782094048516 1 0.967640817165375 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 21 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027234 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_219 3 Benign not specified RCV000438886.1
26 chr12 32896366 32896366 1 + A T rs3200103 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGAGTCTTTGTTGACTCAAAACTTG Direct Loss 1 0.847660922042132 1 0.866951823234558 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 21 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896366 . . 0 hm6A_associated_SNPs_231 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000275050.1
27 chr12 32896366 32896366 1 + A T rs3200103 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGAGTCTTTGTTGACTCAAAACTTG Direct Loss 1 0.847660922042132 1 0.866951823234558 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 21 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896366 . . 0 hm6A_associated_SNPs_231 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000313747.1
28 chr12 32896366 32896366 1 + A T rs3200103 32896366 + 32896346 32896386 41 GAGAACTATGTAATACTGAGACTTTGTTGACTCAAAACTTG GAGAACTATGTAATACTGAGTCTTTGTTGACTCAAAACTTG Direct Loss 1 0.847660922042132 1 0.866951823234558 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 21 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896366 chr12:32896366 . . 0 hm6A_associated_SNPs_231 3 Benign Lethal Encephalopathy RCV000332280.1
29 chr14 102508406 102508406 1 + A T rs115992196 102508406 + 102508386 102508426 41 CCTGGTTATGATGCCAGTGGACATGTCGAGGACCTTGCAGC CCTGGTTATGATGCCAGTGGTCATGTCGAGGACCTTGCAGC Direct Loss 1 0.565947445806562 1 0.961946249008179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 21 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102508406 chr14:102508406 synonymous SNV . 0 hm6A_associated_SNPs_253 5 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000227946.2
30 chr14 102508406 102508406 1 + A T rs115992196 102508406 + 102508386 102508426 41 CCTGGTTATGATGCCAGTGGACATGTCGAGGACCTTGCAGC CCTGGTTATGATGCCAGTGGTCATGTCGAGGACCTTGCAGC Direct Loss 1 0.565947445806562 1 0.961946249008179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 21 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102508406 chr14:102508406 synonymous SNV . 0 hm6A_associated_SNPs_253 5 Likely benign Intellectual Disability, Dominant RCV000299756.1
31 chr14 102508406 102508406 1 + A T rs115992196 102508406 + 102508386 102508426 41 CCTGGTTATGATGCCAGTGGACATGTCGAGGACCTTGCAGC CCTGGTTATGATGCCAGTGGTCATGTCGAGGACCTTGCAGC Direct Loss 1 0.565947445806562 1 0.961946249008179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 21 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102508406 chr14:102508406 synonymous SNV . 0 hm6A_associated_SNPs_253 5 Likely benign Spinocerebellar Ataxia, Dominant RCV000334726.1
32 chr14 102508406 102508406 1 + A T rs115992196 102508406 + 102508386 102508426 41 CCTGGTTATGATGCCAGTGGACATGTCGAGGACCTTGCAGC CCTGGTTATGATGCCAGTGGTCATGTCGAGGACCTTGCAGC Direct Loss 1 0.565947445806562 1 0.961946249008179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 21 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102508406 chr14:102508406 synonymous SNV . 0 hm6A_associated_SNPs_253 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000407943.1
33 chr14 102508406 102508406 1 + A T rs115992196 102508406 + 102508386 102508426 41 CCTGGTTATGATGCCAGTGGACATGTCGAGGACCTTGCAGC CCTGGTTATGATGCCAGTGGTCATGTCGAGGACCTTGCAGC Direct Loss 1 0.565947445806562 1 0.961946249008179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 21 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102508406 chr14:102508406 synonymous SNV . 0 hm6A_associated_SNPs_253 5 Benign not specified RCV000429380.1
34 chr16 1252259 1252259 1 + A G rs9934839 1252259 + 1252239 1252279 41 ACTGCCGCTGCCAGCCTCAGACTGGCCACAGGGCTGGGCAC ACTGCCGCTGCCAGCCTCAGGCTGGCCACAGGGCTGGGCAC Direct Loss 1 0.610177978952182 1 0.990442991256714 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 21 CACNA1H ENSG00000196557 CDS Human protein_coding chr16:1252259 chr16:1252259 synonymous SNV . 0 hm6A_associated_SNPs_264 1 Benign not specified RCV000082063.5
35 chr16 30749711 30749711 1 + A C rs73538429 30749711 + 30749691 30749731 41 TAGTGCCTGGGGTCTCTGAGACTAGTGCCAGCCCGGGAAGC TAGTGCCTGGGGTCTCTGAGCCTAGTGCCAGCCCGGGAAGC Direct Loss 1 0.846117396799588 1 0.990272521972656 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 21 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30749711 chr16:30749711 nonsynonymous SNV 0.735 1 hm6A_associated_SNPs_271 1 Likely benign Floating-Harbor syndrome RCV000384264.1
36 chr20 4680112 4680112 1 + A G rs62643364 4680112 + 4680092 4680132 41 CCCCATGGTGGTGGCTGGGGACAGCCTCATGGTGGTGGCTG CCCCATGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTG Direct Loss 1 0.853595821765136 1 0.961872220039368 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 21 PRNP ENSG00000171867 CDS Human protein_coding chr20:4680112 chr20:4680112 synonymous SNV . 0 hm6A_associated_SNPs_333 1 Benign Genetic prion diseases RCV000340924.1
37 chr20 62566334 62566334 1 + A G rs150408300 62566334 + 62566314 62566354 41 CAGTGCATCCTACTGTGGGGACATCTCGTGAGGGGACACGA CAGTGCATCCTACTGTGGGGGCATCTCGTGAGGGGACACGA Direct Loss 1 0.527241330551842 1 0.952748417854309 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62566334 chr20:62566334 . . 0 hm6A_associated_SNPs_345 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000281977.1
38 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Pathogenic Pilomatrixoma RCV000019140.5
39 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic not provided RCV000087199.2
40 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Malignant melanoma of skin RCV000417687.1
41 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Transitional cell carcinoma of the bladder RCV000425010.1
42 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Uterine cervical neoplasms RCV000427454.1
43 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Medulloblastoma RCV000427896.1
44 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Adenocarcinoma of prostate RCV000433199.1
45 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Malignant neoplasm of body of uterus RCV000435333.1
46 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Hepatocellular carcinoma RCV000437703.1
47 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Adenocarcinoma of stomach RCV000443060.1
48 chr3 41266098 41266098 1 + A G CESC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGGCTCTGGAATCCATTCTGGTG Direct Loss 1 0.523080691621046 1 0.594641089439392 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 21 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266098 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_439 11 Likely pathogenic Malignant melanoma RCV000443883.1
49 chr5 112175886 112175886 1 + A G COAD 112175886 + 112175866 112175906 41 GCCTCCAGTTCAGGAAAATGACAATGGGAATGAAACAGAAT GCCTCCAGTTCAGGAAAATGGCAATGGGAATGAAACAGAAT Direct Loss 1 0.953522367529715 1 0.997583866119385 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 21 APC ENSG00000134982 CDS Human protein_coding chr5:112175886 chr5:112175886 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_602 1 Uncertain significance Familial adenomatous polyposis 1 RCV000476638.1
50 chr19 11216253 11216253 1 + A C KIRP 11216253 + 11216233 11216273 41 TGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACT TGGTGGCCCCGACTGCAAGGCCAAATCTGACGAGGAAAACT Direct Loss 1 0.815202556148892 1 0.988423943519592 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 21 LDLR ENSG00000130164 CDS Human protein_coding chr19:11216253 chr19:11216253 nonsynonymous SNV 0.996 5 hm6A_associated_SNPs_786 1 Likely pathogenic Familial hypercholesterolemia RCV000237619.1
51 chr12 112884184 112884184 1 + A G LUSC 112884184 + 112884164 112884204 41 TAGTAAAAGTAACCCTGGAGACTTCACACTTTCCGTTAGGT TAGTAAAAGTAACCCTGGAGGCTTCACACTTTCCGTTAGGT Direct Loss 1 0.164259536673298 1 0.0205395817756653 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 21 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112884184 chr12:112884184 nonsynonymous SNV 0.999 2 hm6A_associated_SNPs_1068 1 Uncertain significance not specified RCV000037607.2
52 chr15 80452201 80452201 1 + A G UCEC 80452201 + 80452181 80452221 41 CCAAGCCAGGCTCAGAGATGACACCGAACTTCGGAAGTGGT CCAAGCCAGGCTCAGAGATGGCACCGAACTTCGGAAGTGGT Direct Loss 1 0.422638896172374 1 0.11938264966011 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 21 FAH ENSG00000103876 CDS Human protein_coding chr15:80452201 chr15:80452201 nonsynonymous SNV 0.840 3 hm6A_associated_SNPs_1983 1 Uncertain significance Hypertyrosinemia RCV000357369.1
53 chr1 985070 985070 1 + G A rs2799068 985080 + 985060 985100 41 TGGCGTGGGCGAGTGCGGGGACCACCCCTGCCTGCCCAACC TGGCGTGGGCAAGTGCGGGGACCACCCCTGCCTGCCCAACC < 41bp 1 0.201539035126525 1 0.962631702423096 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 11 AGRN ENSG00000188157 CDS Human protein_coding chr1:985080 chr1:985070 nonsynonymous SNV 0.100 0 hm6A_associated_SNPs_2098 1 Uncertain significance not specified RCV000238604.2
54 chr1 2161003 2161003 1 + C T rs149642284 2161011 + 2160991 2161031 41 CTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCT CTCGCACAAGGCTCTGGAGAACCGGACCTGCCACTGGGGCT < 41bp 1 0.625309306432474 1 0.998571991920471 experiment 0.749381387135052 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;Control 13 SKI ENSG00000157933 CDS Human protein_coding chr1:2161011 chr1:2161003 synonymous SNV . 0 hm6A_associated_SNPs_2155 3 other not specified RCV000225717.3
55 chr1 2161003 2161003 1 + C T rs149642284 2161011 + 2160991 2161031 41 CTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCT CTCGCACAAGGCTCTGGAGAACCGGACCTGCCACTGGGGCT < 41bp 1 0.625309306432474 1 0.998571991920471 experiment 0.749381387135052 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;Control 13 SKI ENSG00000157933 CDS Human protein_coding chr1:2161011 chr1:2161003 synonymous SNV . 0 hm6A_associated_SNPs_2155 3 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000243648.1
56 chr1 2161003 2161003 1 + C T rs149642284 2161011 + 2160991 2161031 41 CTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCT CTCGCACAAGGCTCTGGAGAACCGGACCTGCCACTGGGGCT < 41bp 1 0.625309306432474 1 0.998571991920471 experiment 0.749381387135052 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;Control 13 SKI ENSG00000157933 CDS Human protein_coding chr1:2161011 chr1:2161003 synonymous SNV . 0 hm6A_associated_SNPs_2155 3 Benign Shprintzen-Goldberg syndrome RCV000465929.1
57 chr1 2161003 2161003 1 + C T rs149642284 2161016 + 2160996 2161036 41 ACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGAC ACAAGGCTCTGGAGAACCGGACCTGCCACTGGGGCTTCGAC < 41bp 1 0.662701022931895 1 0.998564183712006 experiment 0.674597954136211 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 8 SKI ENSG00000157933 CDS Human protein_coding chr1:2161016 chr1:2161003 synonymous SNV . 0 hm6A_associated_SNPs_2156 3 other not specified RCV000225717.3
58 chr1 2161003 2161003 1 + C T rs149642284 2161016 + 2160996 2161036 41 ACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGAC ACAAGGCTCTGGAGAACCGGACCTGCCACTGGGGCTTCGAC < 41bp 1 0.662701022931895 1 0.998564183712006 experiment 0.674597954136211 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 8 SKI ENSG00000157933 CDS Human protein_coding chr1:2161016 chr1:2161003 synonymous SNV . 0 hm6A_associated_SNPs_2156 3 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000243648.1
59 chr1 2161003 2161003 1 + C T rs149642284 2161016 + 2160996 2161036 41 ACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGAC ACAAGGCTCTGGAGAACCGGACCTGCCACTGGGGCTTCGAC < 41bp 1 0.662701022931895 1 0.998564183712006 experiment 0.674597954136211 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 8 SKI ENSG00000157933 CDS Human protein_coding chr1:2161016 chr1:2161003 synonymous SNV . 0 hm6A_associated_SNPs_2156 3 Benign Shprintzen-Goldberg syndrome RCV000465929.1
60 chr1 2491306 2491306 1 + G A rs2234163 2491297 + 2491277 2491317 41 CGAGCCGGAACTGCTCCAGGACAGAGAACGCCGTGTGTGGC CGAGCCGGAACTGCTCCAGGACAGAGAACACCGTGTGTGGC < 41bp 1 0.351818115258332 1 0.976170659065247 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 30 TNFRSF14 ENSG00000157873 CDS Human protein_coding chr1:2491297 chr1:2491306 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_2176 1 not provided not specified RCV000122168.1
61 chr1 10438892 10438892 1 + G A rs1002076 10438910 + 10438890 10438930 41 GCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG GCATCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG < 41bp 1 0.317775740873955 1 0.547058880329132 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438910 chr1:10438892 . . 0 hm6A_associated_SNPs_2255 3 Benign Charcot-Marie-Tooth, Type 2 RCV000263064.1
62 chr1 10438892 10438892 1 + G A rs1002076 10438910 + 10438890 10438930 41 GCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG GCATCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG < 41bp 1 0.317775740873955 1 0.547058880329132 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438910 chr1:10438892 . . 0 hm6A_associated_SNPs_2255 3 Benign Neuroblastoma RCV000315959.1
63 chr1 10438892 10438892 1 + G A rs1002076 10438910 + 10438890 10438930 41 GCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG GCATCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG < 41bp 1 0.317775740873955 1 0.547058880329132 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438910 chr1:10438892 . . 0 hm6A_associated_SNPs_2255 3 Benign Pheochromocytoma RCV000373975.1
64 chr1 10438913 10438913 1 + C T rs574858597 10438910 + 10438890 10438930 41 GCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG GCGTCTGCACCTGAAAAGTGACCTGCGGAAACTCTATGGCG < 41bp 1 0.37089094057899 1 0.753684282302856 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438910 chr1:10438913 . . 0 hm6A_associated_SNPs_2256 3 Uncertain significance Charcot-Marie-Tooth, Type 2 RCV000295256.1
65 chr1 10438913 10438913 1 + C T rs574858597 10438910 + 10438890 10438930 41 GCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG GCGTCTGCACCTGAAAAGTGACCTGCGGAAACTCTATGGCG < 41bp 1 0.37089094057899 1 0.753684282302856 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438910 chr1:10438913 . . 0 hm6A_associated_SNPs_2256 3 Uncertain significance Neuroblastoma RCV000352426.1
66 chr1 10438913 10438913 1 + C T rs574858597 10438910 + 10438890 10438930 41 GCGTCTGCACCTGAAAAGTGACCCGCGGAAACTCTATGGCG GCGTCTGCACCTGAAAAGTGACCTGCGGAAACTCTATGGCG < 41bp 1 0.37089094057899 1 0.753684282302856 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438910 chr1:10438913 . . 0 hm6A_associated_SNPs_2256 3 Uncertain significance Pheochromocytoma RCV000372938.1
67 chr1 10438966 10438966 1 + A G rs567547345 10438977 + 10438957 10438997 41 TGTTAAAACATAGGTCACTAACTGTGATGTTATTTGTTTTC TGTTAAAACGTAGGTCACTAACTGTGATGTTATTTGTTTTC < 41bp 1 0.131958587631201 1 0.848939418792725 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 10 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438977 chr1:10438966 . . 0 hm6A_associated_SNPs_2257 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000293910.1
68 chr1 10438966 10438966 1 + A G rs567547345 10438977 + 10438957 10438997 41 TGTTAAAACATAGGTCACTAACTGTGATGTTATTTGTTTTC TGTTAAAACGTAGGTCACTAACTGTGATGTTATTTGTTTTC < 41bp 1 0.131958587631201 1 0.848939418792725 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 10 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438977 chr1:10438966 . . 0 hm6A_associated_SNPs_2257 3 Likely benign Neuroblastoma RCV000346520.1
69 chr1 10438966 10438966 1 + A G rs567547345 10438977 + 10438957 10438997 41 TGTTAAAACATAGGTCACTAACTGTGATGTTATTTGTTTTC TGTTAAAACGTAGGTCACTAACTGTGATGTTATTTGTTTTC < 41bp 1 0.131958587631201 1 0.848939418792725 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 10 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10438977 chr1:10438966 . . 0 hm6A_associated_SNPs_2257 3 Likely benign Pheochromocytoma RCV000385946.1
70 chr1 10440387 10440387 1 + T C rs78868210 10440390 + 10440370 10440410 41 TCCCGCTCGGGTTCCAATGGACAGTATCAGGGCTTGTTTGA TCCCGCTCGGGTTCCAACGGACAGTATCAGGGCTTGTTTGA < 41bp 1 0.444207336435672 1 0.409114450216293 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440390 chr1:10440387 . . 0 hm6A_associated_SNPs_2259 3 Likely benign Pheochromocytoma RCV000282739.1
71 chr1 10440387 10440387 1 + T C rs78868210 10440390 + 10440370 10440410 41 TCCCGCTCGGGTTCCAATGGACAGTATCAGGGCTTGTTTGA TCCCGCTCGGGTTCCAACGGACAGTATCAGGGCTTGTTTGA < 41bp 1 0.444207336435672 1 0.409114450216293 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440390 chr1:10440387 . . 0 hm6A_associated_SNPs_2259 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000342513.1
72 chr1 10440387 10440387 1 + T C rs78868210 10440390 + 10440370 10440410 41 TCCCGCTCGGGTTCCAATGGACAGTATCAGGGCTTGTTTGA TCCCGCTCGGGTTCCAACGGACAGTATCAGGGCTTGTTTGA < 41bp 1 0.444207336435672 1 0.409114450216293 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 KIF1B ENSG00000054523 UTR3 Human protein_coding chr1:10440390 chr1:10440387 . . 0 hm6A_associated_SNPs_2259 3 Likely benign Neuroblastoma RCV000401446.1
73 chr1 12034756 12034756 1 + C T rs557317492 12034770 + 12034750 12034790 41 GAGCCCCAAGGAAGGGCTGGACCCTCATGCACCCTGGACGA GAGCCCTAAGGAAGGGCTGGACCCTCATGCACCCTGGACGA < 41bp 1 0.775502635340888 1 0.782772660255432 experiment 0.448994729318224 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12034770 chr1:12034756 nonsynonymous SNV 0.115 1 hm6A_associated_SNPs_2273 3 Likely pathogenic Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000202446.1
74 chr1 12034756 12034756 1 + C T rs557317492 12034770 + 12034750 12034790 41 GAGCCCCAAGGAAGGGCTGGACCCTCATGCACCCTGGACGA GAGCCCTAAGGAAGGGCTGGACCCTCATGCACCCTGGACGA < 41bp 1 0.775502635340888 1 0.782772660255432 experiment 0.448994729318224 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12034770 chr1:12034756 nonsynonymous SNV 0.115 1 hm6A_associated_SNPs_2273 3 Uncertain significance Thoracic aortic aneurysm and aortic dissection RCV000246181.1
75 chr1 12034756 12034756 1 + C T rs557317492 12034770 + 12034750 12034790 41 GAGCCCCAAGGAAGGGCTGGACCCTCATGCACCCTGGACGA GAGCCCTAAGGAAGGGCTGGACCCTCATGCACCCTGGACGA < 41bp 1 0.775502635340888 1 0.782772660255432 experiment 0.448994729318224 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12034770 chr1:12034756 nonsynonymous SNV 0.115 1 hm6A_associated_SNPs_2273 3 Uncertain significance Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000301074.1
76 chr1 12034936 12034936 1 + C G rs2230899 12034932 + 12034912 12034952 41 ACTGCCCAGCAGCCTCTGGGACCTCGGGGTCCCAGGGAACC ACTGCCCAGCAGCCTCTGGGACCTGGGGGTCCCAGGGAACC < 41bp 1 0.772266125943049 1 0.947376847267151 experiment 0.455467748113901 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 25 PLOD1 ENSG00000083444 UTR3 Human protein_coding chr1:12034932 chr1:12034936 . . 0 hm6A_associated_SNPs_2274 1 Likely benign Ehlers-Danlos syndrome, hydroxylysine-deficient RCV000264842.1
77 chr1 12069725 12069725 1 + G A rs144860227 12069732 + 12069712 12069752 41 GCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTG GCAGGAAATTGCCACCATGAACAAGAAAATTGAGGTTCTTG < 41bp 1 0.719890214999563 1 0.487097650766373 experiment 0.560219570000875 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 14 MFN2 ENSG00000116688 CDS Human protein_coding chr1:12069732 chr1:12069725 nonsynonymous SNV 0.877 1 hm6A_associated_SNPs_2277 3 Uncertain significance not specified RCV000196739.3
78 chr1 12069725 12069725 1 + G A rs144860227 12069732 + 12069712 12069752 41 GCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTG GCAGGAAATTGCCACCATGAACAAGAAAATTGAGGTTCTTG < 41bp 1 0.719890214999563 1 0.487097650766373 experiment 0.560219570000875 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 14 MFN2 ENSG00000116688 CDS Human protein_coding chr1:12069732 chr1:12069725 nonsynonymous SNV 0.877 1 hm6A_associated_SNPs_2277 3 Likely benign Hereditary motor and sensory neuropathy RCV000334497.1
79 chr1 12069725 12069725 1 + G A rs144860227 12069732 + 12069712 12069752 41 GCAGGAAATTGCCGCCATGAACAAGAAAATTGAGGTTCTTG GCAGGAAATTGCCACCATGAACAAGAAAATTGAGGTTCTTG < 41bp 1 0.719890214999563 1 0.487097650766373 experiment 0.560219570000875 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 14 MFN2 ENSG00000116688 CDS Human protein_coding chr1:12069732 chr1:12069725 nonsynonymous SNV 0.877 1 hm6A_associated_SNPs_2277 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000400991.1
80 chr1 12072518 12072518 1 + G C rs3088064 12072530 + 12072510 12072550 41 GTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTC GTGCATGGCCCCCACACAGGACAGCTGGAGAATGGGCCGTC < 41bp 1 0.741947776217146 1 0.489811480045319 experiment 0.516104447565709 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 9 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072530 chr1:12072518 . . 0 hm6A_associated_SNPs_2278 2 Benign Charcot-Marie-Tooth, Type 2 RCV000321687.1
81 chr1 12072518 12072518 1 + G C rs3088064 12072530 + 12072510 12072550 41 GTGCATGGGCCCCACACAGGACAGCTGGAGAATGGGCCGTC GTGCATGGCCCCCACACAGGACAGCTGGAGAATGGGCCGTC < 41bp 1 0.741947776217146 1 0.489811480045319 experiment 0.516104447565709 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 9 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072530 chr1:12072518 . . 0 hm6A_associated_SNPs_2278 2 Benign Hereditary motor and sensory neuropathy RCV000376417.1
82 chr1 12072722 12072722 1 + A G rs41278638 12072702 + 12072682 12072722 41 CTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACA CTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACG < 41bp 1 0.731581874527479 1 0.918753504753113 experiment 0.536836250945043 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 41 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072702 chr1:12072722 . . 0 hm6A_associated_SNPs_2281 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000298405.1
83 chr1 12072722 12072722 1 + A G rs41278638 12072702 + 12072682 12072722 41 CTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACA CTAAATTTCCTGTGCCAGTGACTGCAGTTGGCCAAGGGACG < 41bp 1 0.731581874527479 1 0.918753504753113 experiment 0.536836250945043 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 41 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072702 chr1:12072722 . . 0 hm6A_associated_SNPs_2281 2 Likely benign Hereditary motor and sensory neuropathy RCV000390171.1
84 chr1 12072880 12072880 1 + G A rs116156978 12072863 + 12072843 12072883 41 TGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTT TGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAATTT < 41bp 1 0.61298449894512 1 0.844223022460938 experiment 0.774031002109759 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072863 chr1:12072880 . . 0 hm6A_associated_SNPs_2282 2 Likely benign Hereditary motor and sensory neuropathy RCV000264181.1
85 chr1 12072880 12072880 1 + G A rs116156978 12072863 + 12072843 12072883 41 TGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAGTTT TGCCTGTCACCAAGGTGTTGACTGTGTGAGAAAAGCAATTT < 41bp 1 0.61298449894512 1 0.844223022460938 experiment 0.774031002109759 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072863 chr1:12072880 . . 0 hm6A_associated_SNPs_2282 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000324053.1
86 chr1 20960206 20960206 1 + G A rs537679886 20960194 + 20960174 20960214 41 CGTCCAGGCTGGGCCGCAGGACCGGGCGCGGAGCCTCGCAG CGTCCAGGCTGGGCCGCAGGACCGGGCGCGGAACCTCGCAG < 41bp 1 0.32046229532009 1 0.896072089672089 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 PINK1 ENSG00000158828 CDS Human protein_coding chr1:20960194 chr1:20960206 synonymous SNV . 0 hm6A_associated_SNPs_2369 1 Uncertain significance Parkinson Disease, Recessive RCV000405896.1
87 chr1 20960230 20960230 1 + C T rs45530340 20960235 + 20960215 20960255 41 GGTCGGGCTCGGGCTCCCTAACCGTCTCCGCTTCTTCCGCC GGTCGGGCTCGGGCTTCCTAACCGTCTCCGCTTCTTCCGCC < 41bp 1 0.249304977937186 1 0.77522748708725 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 PINK1 ENSG00000158828 CDS Human protein_coding chr1:20960235 chr1:20960230 synonymous SNV . 0 hm6A_associated_SNPs_2371 2 Benign not specified RCV000249312.1
88 chr1 20960230 20960230 1 + C T rs45530340 20960235 + 20960215 20960255 41 GGTCGGGCTCGGGCTCCCTAACCGTCTCCGCTTCTTCCGCC GGTCGGGCTCGGGCTTCCTAACCGTCTCCGCTTCTTCCGCC < 41bp 1 0.249304977937186 1 0.77522748708725 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 PINK1 ENSG00000158828 CDS Human protein_coding chr1:20960235 chr1:20960230 synonymous SNV . 0 hm6A_associated_SNPs_2371 2 Likely benign Parkinson Disease, Recessive RCV000314740.1
89 chr1 20977365 20977365 1 + C G rs513414 20977375 + 20977355 20977395 41 CTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCC CTGCAGTCCTGTGCTCACAGACATCTGAAAAGTGAATGGCC < 41bp 1 0.758831933271853 1 0.896417140960693 experiment 0.482336133456295 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 11 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977375 chr1:20977365 . . 0 hm6A_associated_SNPs_2373 2 Benign Parkinson Disease, Recessive RCV000309593.1
90 chr1 20977365 20977365 1 + C G rs513414 20977375 + 20977355 20977395 41 CTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCC CTGCAGTCCTGTGCTCACAGACATCTGAAAAGTGAATGGCC < 41bp 1 0.758831933271853 1 0.896417140960693 experiment 0.482336133456295 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 11 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977375 chr1:20977365 . . 0 hm6A_associated_SNPs_2373 2 Benign Congenital disorder of glycosylation RCV000327294.1
91 chr1 20977380 20977380 1 + T C rs1043443 20977375 + 20977355 20977395 41 CTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCC CTGCAGTCCTCTGCTCACAGACATCCGAAAAGTGAATGGCC < 41bp 1 0.748224809321815 1 0.942113757133484 experiment 0.50355038135637 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 26 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977375 chr1:20977380 . . 0 hm6A_associated_SNPs_2374 2 Likely benign Parkinson Disease, Recessive RCV000359766.1
92 chr1 20977380 20977380 1 + T C rs1043443 20977375 + 20977355 20977395 41 CTGCAGTCCTCTGCTCACAGACATCTGAAAAGTGAATGGCC CTGCAGTCCTCTGCTCACAGACATCCGAAAAGTGAATGGCC < 41bp 1 0.748224809321815 1 0.942113757133484 experiment 0.50355038135637 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 26 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977375 chr1:20977380 . . 0 hm6A_associated_SNPs_2374 2 Likely benign Congenital disorder of glycosylation RCV000384143.1
93 chr1 20977533 20977533 1 + G C rs114112086 20977521 + 20977501 20977541 41 CTTTGCCCCTAACACGAGGAACTCGTTTGAAGGGGGCAGCG CTTTGCCCCTAACACGAGGAACTCGTTTGAAGCGGGCAGCG < 41bp 1 0.701489244836225 1 0.863958835601807 experiment 0.59702151032755 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 33 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977521 chr1:20977533 . . 0 hm6A_associated_SNPs_2375 1 Uncertain significance Parkinson Disease, Recessive RCV000324669.1
94 chr1 20977718 20977718 1 + A G rs553977557 20977738 + 20977718 20977758 41 AAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGA GAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGA < 41bp 1 0.425739099827886 1 0.213467538356781 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 1 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977738 chr1:20977718 . . 0 hm6A_associated_SNPs_2376 1 Uncertain significance Parkinson Disease, Recessive RCV000385346.1
95 chr1 20977748 20977748 1 + T G rs1043502 20977738 + 20977718 20977758 41 AAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGA AAGTAAGTGTGGGGATTTAAACTTGAGGGTGTCCCTCCTGA < 41bp 1 0.464874149447886 1 0.203267633914948 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 31 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977738 chr1:20977748 . . 0 hm6A_associated_SNPs_2377 2 Likely benign Parkinson Disease, Recessive RCV000295846.1
96 chr1 20977748 20977748 1 + T G rs1043502 20977738 + 20977718 20977758 41 AAGTAAGTGTGGGGATTTAAACTTGAGGGTTTCCCTCCTGA AAGTAAGTGTGGGGATTTAAACTTGAGGGTGTCCCTCCTGA < 41bp 1 0.464874149447886 1 0.203267633914948 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 31 PINK1-AS ENSG00000117242 ncRNA_exonic Human antisense chr1:20977738 chr1:20977748 . . 0 hm6A_associated_SNPs_2377 2 Likely benign Congenital disorder of glycosylation RCV000296156.1
97 chr1 21890632 21890632 1 + G A rs121918007 21890627 + 21890607 21890647 41 TGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGG TGACCGGGACTGGTACTCAGACAACAAGATGCCCCCTGAGG < 41bp 1 0.473052027151277 1 0.827093958854675 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 26 ALPL ENSG00000162551 CDS Human protein_coding chr1:21890627 chr1:21890632 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_2379 5 Pathogenic Infantile hypophosphatasia RCV000014658.28
98 chr1 21890632 21890632 1 + G A rs121918007 21890627 + 21890607 21890647 41 TGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGG TGACCGGGACTGGTACTCAGACAACAAGATGCCCCCTGAGG < 41bp 1 0.473052027151277 1 0.827093958854675 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 26 ALPL ENSG00000162551 CDS Human protein_coding chr1:21890627 chr1:21890632 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_2379 5 other Childhood hypophosphatasia RCV000014659.25
99 chr1 21890632 21890632 1 + G A rs121918007 21890627 + 21890607 21890647 41 TGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGG TGACCGGGACTGGTACTCAGACAACAAGATGCCCCCTGAGG < 41bp 1 0.473052027151277 1 0.827093958854675 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 26 ALPL ENSG00000162551 CDS Human protein_coding chr1:21890627 chr1:21890632 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_2379 5 Pathogenic Adult hypophosphatasia RCV000014660.27
100 chr1 21890632 21890632 1 + G A rs121918007 21890627 + 21890607 21890647 41 TGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGG TGACCGGGACTGGTACTCAGACAACAAGATGCCCCCTGAGG < 41bp 1 0.473052027151277 1 0.827093958854675 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 26 ALPL ENSG00000162551 CDS Human protein_coding chr1:21890627 chr1:21890632 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_2379 5 Pathogenic Hypophosphatasia RCV000207183.1
101 chr1 21890632 21890632 1 + G A rs121918007 21890627 + 21890607 21890647 41 TGACCGGGACTGGTACTCAGACAACGAGATGCCCCCTGAGG TGACCGGGACTGGTACTCAGACAACAAGATGCCCCCTGAGG < 41bp 1 0.473052027151277 1 0.827093958854675 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 26 ALPL ENSG00000162551 CDS Human protein_coding chr1:21890627 chr1:21890632 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_2379 5 Pathogenic not provided RCV000224962.1
102 chr1 21900171 21900171 1 + A G rs3200255 21900176 + 21900156 21900196 41 AGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACA AGGTCTCTTCGAGCCGGGGGACATGCAGTACGAGCTGAACA < 41bp 1 0.275437405531962 1 0.639568388462067 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 16 ALPL ENSG00000162551 CDS Human protein_coding chr1:21900176 chr1:21900171 synonymous SNV . 0 hm6A_associated_SNPs_2380 2 Benign not specified RCV000253870.1
103 chr1 21900171 21900171 1 + A G rs3200255 21900176 + 21900156 21900196 41 AGGTCTCTTCGAGCCAGGGGACATGCAGTACGAGCTGAACA AGGTCTCTTCGAGCCGGGGGACATGCAGTACGAGCTGAACA < 41bp 1 0.275437405531962 1 0.639568388462067 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 16 ALPL ENSG00000162551 CDS Human protein_coding chr1:21900176 chr1:21900171 synonymous SNV . 0 hm6A_associated_SNPs_2380 2 Benign Hypophosphatasia RCV000274166.1
104 chr1 21904621 21904621 1 + A C rs138564953 21904638 + 21904618 21904658 41 TTGAGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACT TTGCGGTCTTTCTCCTCAGGACAAGGCCTTGCTCACTCACT < 41bp 1 0.462156065403539 1 0.919501662254333 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31257032;GSE122961;MAZTER-seq;ESC;Control 4 ALPL ENSG00000162551 UTR3 Human protein_coding chr1:21904638 chr1:21904621 . . 0 hm6A_associated_SNPs_2382 1 Likely benign Hypophosphatasia RCV000393514.1
105 chr1 22148817 22148817 1 + G A rs1049675 22148802 + 22148782 22148822 41 ACAGGAGGGTCCCTTCTAGGACACAGAGGCCAGGCGTCCCA ACAGGAGGGTCCCTTCTAGGACACAGAGGCCAGGCATCCCA < 41bp 1 0.71924257149548 1 0.769620537757874 experiment 0.561514857009039 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 36 HSPG2;LDLRAD2 ENSG00000142798;ENSG00000187942 UTR3 Human other chr1:22148802 chr1:22148817 . . 0 hm6A_associated_SNPs_2385 2 Likely benign Schwartz Jampel syndrome type 1 RCV000290348.1
106 chr1 22148817 22148817 1 + G A rs1049675 22148802 + 22148782 22148822 41 ACAGGAGGGTCCCTTCTAGGACACAGAGGCCAGGCGTCCCA ACAGGAGGGTCCCTTCTAGGACACAGAGGCCAGGCATCCCA < 41bp 1 0.71924257149548 1 0.769620537757874 experiment 0.561514857009039 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 36 HSPG2;LDLRAD2 ENSG00000142798;ENSG00000187942 UTR3 Human other chr1:22148802 chr1:22148817 . . 0 hm6A_associated_SNPs_2385 2 Likely benign Dyssegmental Dysplasia RCV000377761.1
107 chr1 22148817 22148817 1 + G A rs1049675 22148832 - 22148812 22148852 41 ATCCTGCCAGTGGCCCCCAGACTGTGGGGTTGGGACGCCTG ATCCTGCCAGTGGCCCCCAGACTGTGGGGTTGGGATGCCTG < 41bp 1 0.376463260309061 1 0.506899774074554 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|26593424;GSE73405;miCLIP;HepG2;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 36 HSPG2;LDLRAD2 ENSG00000142798;ENSG00000187942 UTR3 Human other chr1:22148832 chr1:22148817 . . 0 hm6A_associated_SNPs_2386 2 Likely benign Schwartz Jampel syndrome type 1 RCV000290348.1
108 chr1 22148817 22148817 1 + G A rs1049675 22148832 - 22148812 22148852 41 ATCCTGCCAGTGGCCCCCAGACTGTGGGGTTGGGACGCCTG ATCCTGCCAGTGGCCCCCAGACTGTGGGGTTGGGATGCCTG < 41bp 1 0.376463260309061 1 0.506899774074554 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|26593424;GSE73405;miCLIP;HepG2;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 36 HSPG2;LDLRAD2 ENSG00000142798;ENSG00000187942 UTR3 Human other chr1:22148832 chr1:22148817 . . 0 hm6A_associated_SNPs_2386 2 Likely benign Dyssegmental Dysplasia RCV000377761.1
109 chr1 22149216 22149216 1 + G A rs575020789 22149225 - 22149205 22149245 41 CCTGGCACCTCCTCTGGCAGACTCCCCCTCCTACCACGTCC CCTGGCACCTCCTCTGGCAGACTCCCCCTTCTACCACGTCC < 41bp 1 0.368474054118222 1 0.963943958282471 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 30 HSPG2;LDLRAD2 ENSG00000142798;ENSG00000187942 UTR3 Human other chr1:22149225 chr1:22149216 . . 0 hm6A_associated_SNPs_2387 2 Uncertain significance Dyssegmental Dysplasia RCV000327467.1
110 chr1 22149216 22149216 1 + G A rs575020789 22149225 - 22149205 22149245 41 CCTGGCACCTCCTCTGGCAGACTCCCCCTCCTACCACGTCC CCTGGCACCTCCTCTGGCAGACTCCCCCTTCTACCACGTCC < 41bp 1 0.368474054118222 1 0.963943958282471 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 30 HSPG2;LDLRAD2 ENSG00000142798;ENSG00000187942 UTR3 Human other chr1:22149225 chr1:22149216 . . 0 hm6A_associated_SNPs_2387 2 Uncertain significance Schwartz Jampel syndrome type 1 RCV000384311.1
111 chr1 24019194 24019194 1 + G A rs199772693 24019184 + 24019164 24019204 41 CTGTGTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCA CTGTGTTGGGGAGAGTGGAGACAGACTGACACGAGCAGCCA < 41bp 1 0.654686774049064 1 0.848150730133057 experiment 0.690626451901873 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 31 RPL11 ENSG00000142676 CDS Human protein_coding chr1:24019184 chr1:24019194 synonymous SNV . 0 hm6A_associated_SNPs_2409 1 Uncertain significance Diamond-Blackfan anemia RCV000381936.1
112 chr1 24019194 24019194 1 + G A rs199772693 24019188 + 24019168 24019208 41 GTTGGGGAGAGTGGAGACAGACTGACGCGAGCAGCCAAGGT GTTGGGGAGAGTGGAGACAGACTGACACGAGCAGCCAAGGT < 41bp 1 0.433081924105373 1 0.924754023551941 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 27 RPL11 ENSG00000142676 CDS Human protein_coding chr1:24019188 chr1:24019194 synonymous SNV . 0 hm6A_associated_SNPs_2410 1 Uncertain significance Diamond-Blackfan anemia RCV000381936.1
113 chr1 24019245 24019245 1 + C T rs80133698 24019231 + 24019211 24019251 41 TGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCCAAAGGT TGGAGCAGCTCACAGGGCAGACCCCTGTGTTTTCTAAAGGT < 41bp 1 0.113823995432492 1 0.191631257534027 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 35 RPL11 ENSG00000142676 CDS Human protein_coding chr1:24019231 chr1:24019245 synonymous SNV . 0 hm6A_associated_SNPs_2411 1 Likely benign Diamond-Blackfan anemia RCV000290243.1
114 chr1 26135615 26135615 1 + C T rs34177164 26135604 + 26135584 26135624 41 AGGGAGCTGTGGCCTGCCTGACTGCCATCAGCGACTTCTAC AGGGAGCTGTGGCCTGCCTGACTGCCATCAGTGACTTCTAC < 41bp 1 0.184046879801911 1 0.978305637836456 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 32 SELENON ENSG00000162430 CDS Human protein_coding chr1:26135604 chr1:26135615 synonymous SNV . 0 hm6A_associated_SNPs_2447 1 Likely benign not specified RCV000179509.2
115 chr1 26140573 26140573 1 + C A rs2294228 26140569 + 26140549 26140589 41 TGTGCAACTGTCCCCACAGAACAACCAGGAGAACTCGTCCC TGTGCAACTGTCCCCACAGAACAAACAGGAGAACTCGTCCC < 41bp 1 0.220515779479854 1 0.989993870258331 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 25 SELENON ENSG00000162430;ENSG00000255054 CDS Human other chr1:26140569 chr1:26140573 nonsynonymous SNV 0.032 1 hm6A_associated_SNPs_2448 2 Benign not specified RCV000082012.8
116 chr1 26140573 26140573 1 + C A rs2294228 26140569 + 26140549 26140589 41 TGTGCAACTGTCCCCACAGAACAACCAGGAGAACTCGTCCC TGTGCAACTGTCCCCACAGAACAAACAGGAGAACTCGTCCC < 41bp 1 0.220515779479854 1 0.989993870258331 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 25 SELENON ENSG00000162430;ENSG00000255054 CDS Human other chr1:26140569 chr1:26140573 nonsynonymous SNV 0.032 1 hm6A_associated_SNPs_2448 2 Benign SEPN1-Related Disorders RCV000299948.1
117 chr1 26142081 26142081 1 + G A rs147131452 26142070 + 26142050 26142090 41 CAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCG CAATGCCAACTACTTCTTGGACATCACCTCCATGAAGCCCG < 41bp 1 0.783582435519266 1 0.958899617195129 experiment 0.432835128961468 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 32 SELENON ENSG00000162430 CDS Human protein_coding chr1:26142070 chr1:26142081 nonsynonymous SNV 0.977 1 hm6A_associated_SNPs_2449 2 Likely benign not specified RCV000251443.2
118 chr1 26142081 26142081 1 + G A rs147131452 26142070 + 26142050 26142090 41 CAATGCCAACTACTTCTTGGACATCACCTCCGTGAAGCCCG CAATGCCAACTACTTCTTGGACATCACCTCCATGAAGCCCG < 41bp 1 0.783582435519266 1 0.958899617195129 experiment 0.432835128961468 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 32 SELENON ENSG00000162430 CDS Human protein_coding chr1:26142070 chr1:26142081 nonsynonymous SNV 0.977 1 hm6A_associated_SNPs_2449 2 Uncertain significance SEPN1-Related Disorders RCV000388614.1
119 chr1 27023212 27023212 1 + C T rs551186176 27023199 + 27023179 27023219 41 CGCGGAGCCGGACCTGAAGAACTCGAACGGGAACGCGGGCC CGCGGAGCCGGACCTGAAGAACTCGAACGGGAATGCGGGCC < 41bp 1 0.756402211030879 1 0.997408986091614 experiment 0.487195577938241 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 34 ARID1A ENSG00000117713 CDS Human protein_coding chr1:27023199 chr1:27023212 synonymous SNV . 0 hm6A_associated_SNPs_2484 1 Likely benign not specified RCV000500481.1
120 chr1 27023252 27023252 1 + C T rs571264557 27023241 + 27023221 27023261 41 TAGGCCCGCCCTGAACAATAACCTCACGGAGCCGCCCGGCG TAGGCCCGCCCTGAACAATAACCTCACGGAGTCGCCCGGCG < 41bp 1 0.42855577437598 1 0.992417693138123 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 ARID1A ENSG00000117713 CDS Human protein_coding chr1:27023241 chr1:27023252 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_2485 1 Uncertain significance not specified RCV000503505.1
121 chr1 35251219 35251219 1 + C A rs41266429 35251218 + 35251198 35251238 41 ACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAG ACATGCGGGCTGCCAATGGGAAATGCAGGGCGGTGTGGCAG Direct Loss 1 0.20593281419252 1 0.762365460395813 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251218 chr1:35251219 . . 0 hm6A_associated_SNPs_2634 2 Benign Erythrokeratodermia variabilis RCV000264955.1
122 chr1 35251219 35251219 1 + C A rs41266429 35251218 + 35251198 35251238 41 ACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAG ACATGCGGGCTGCCAATGGGAAATGCAGGGCGGTGTGGCAG Direct Loss 1 0.20593281419252 1 0.762365460395813 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251218 chr1:35251219 . . 0 hm6A_associated_SNPs_2634 2 Benign Nonsyndromic Hearing Loss, Dominant RCV000384829.1
123 chr1 35251229 35251229 1 + G A rs476220 35251218 + 35251198 35251238 41 ACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAG ACATGCGGGCTGCCAATGGGACATGCAGGGCAGTGTGGCAG < 41bp 1 0.206781822333619 1 0.890571296215057 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251218 chr1:35251229 . . 0 hm6A_associated_SNPs_2635 2 Benign Erythrokeratodermia variabilis RCV000322370.1
124 chr1 35251229 35251229 1 + G A rs476220 35251218 + 35251198 35251238 41 ACATGCGGGCTGCCAATGGGACATGCAGGGCGGTGTGGCAG ACATGCGGGCTGCCAATGGGACATGCAGGGCAGTGTGGCAG < 41bp 1 0.206781822333619 1 0.890571296215057 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251218 chr1:35251229 . . 0 hm6A_associated_SNPs_2635 2 Benign Nonsyndromic Hearing Loss, Dominant RCV000379270.1
125 chr1 35251394 35251394 1 + C A rs78145978 35251387 + 35251367 35251407 41 CCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCG CCAGTGCCAGCCCTCAAAGGACATAGAATTTGAAACAAGCG < 41bp 1 0.260101304133889 1 0.935872793197632 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 28 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251387 chr1:35251394 . . 0 hm6A_associated_SNPs_2640 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000307818.1
126 chr1 35251394 35251394 1 + C A rs78145978 35251387 + 35251367 35251407 41 CCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCG CCAGTGCCAGCCCTCAAAGGACATAGAATTTGAAACAAGCG < 41bp 1 0.260101304133889 1 0.935872793197632 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 28 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251387 chr1:35251394 . . 0 hm6A_associated_SNPs_2640 2 Likely benign Erythrokeratodermia variabilis RCV000402777.1
127 chr1 35251394 35251394 1 + C A rs78145978 35251393 + 35251373 35251413 41 CCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAA CCAGCCCTCAAAGGACATAGAATTTGAAACAAGCGAATTAA Direct Loss 1 0.254841889728119 1 0.879063963890076 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 22 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251393 chr1:35251394 . . 0 hm6A_associated_SNPs_2641 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000307818.1
128 chr1 35251394 35251394 1 + C A rs78145978 35251393 + 35251373 35251413 41 CCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAA CCAGCCCTCAAAGGACATAGAATTTGAAACAAGCGAATTAA Direct Loss 1 0.254841889728119 1 0.879063963890076 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 22 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251393 chr1:35251394 . . 0 hm6A_associated_SNPs_2641 2 Likely benign Erythrokeratodermia variabilis RCV000402777.1
129 chr1 35251394 35251394 1 + C A rs78145978 35251413 + 35251393 35251433 41 ACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAG AATTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAG < 41bp 1 0.187604597822552 1 0.793655037879944 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251413 chr1:35251394 . . 0 hm6A_associated_SNPs_2642 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000307818.1
130 chr1 35251394 35251394 1 + C A rs78145978 35251413 + 35251393 35251433 41 ACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAG AATTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAG < 41bp 1 0.187604597822552 1 0.793655037879944 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251413 chr1:35251394 . . 0 hm6A_associated_SNPs_2642 2 Likely benign Erythrokeratodermia variabilis RCV000402777.1
131 chr1 35251407 35251407 1 + G A rs72898302 35251387 + 35251367 35251407 41 CCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCG CCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCA < 41bp 1 0.248818939773565 1 0.969372153282166 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 41 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251387 chr1:35251407 . . 0 hm6A_associated_SNPs_2643 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000272502.1
132 chr1 35251407 35251407 1 + G A rs72898302 35251387 + 35251367 35251407 41 CCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCG CCAGTGCCAGCCCTCAAAGGACATAGACTTTGAAACAAGCA < 41bp 1 0.248818939773565 1 0.969372153282166 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 41 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251387 chr1:35251407 . . 0 hm6A_associated_SNPs_2643 2 Likely benign Erythrokeratodermia variabilis RCV000364786.1
133 chr1 35251407 35251407 1 + G A rs72898302 35251393 + 35251373 35251413 41 CCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAA CCAGCCCTCAAAGGACATAGACTTTGAAACAAGCAAATTAA < 41bp 1 0.273658408268467 1 0.984778642654419 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 35 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251393 chr1:35251407 . . 0 hm6A_associated_SNPs_2644 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000272502.1
134 chr1 35251407 35251407 1 + G A rs72898302 35251393 + 35251373 35251413 41 CCAGCCCTCAAAGGACATAGACTTTGAAACAAGCGAATTAA CCAGCCCTCAAAGGACATAGACTTTGAAACAAGCAAATTAA < 41bp 1 0.273658408268467 1 0.984778642654419 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 35 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251393 chr1:35251407 . . 0 hm6A_associated_SNPs_2644 2 Likely benign Erythrokeratodermia variabilis RCV000364786.1
135 chr1 35251407 35251407 1 + G A rs72898302 35251413 + 35251393 35251433 41 ACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAG ACTTTGAAACAAGCAAATTAACTATCTACGCTGCCTGCAAG < 41bp 1 0.19715309185452 1 0.913465261459351 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 15 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251413 chr1:35251407 . . 0 hm6A_associated_SNPs_2645 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000272502.1
136 chr1 35251407 35251407 1 + G A rs72898302 35251413 + 35251393 35251433 41 ACTTTGAAACAAGCGAATTAACTATCTACGCTGCCTGCAAG ACTTTGAAACAAGCAAATTAACTATCTACGCTGCCTGCAAG < 41bp 1 0.19715309185452 1 0.913465261459351 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 15 GJB3 ENSG00000255811 ncRNA_intronic Human antisense chr1:35251413 chr1:35251407 . . 0 hm6A_associated_SNPs_2645 2 Likely benign Erythrokeratodermia variabilis RCV000364786.1
137 chr1 40758225 40758225 1 + C T rs116771294 40758224 + 40758204 40758244 41 TTATATTCTGCTTTAATCAAACTTAACAAAGATAACTTGGG TTATATTCTGCTTTAATCAAATTTAACAAAGATAACTTGGG Direct Loss 1 0.77368864887789 1 0.922778725624084 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 ZMPSTE24 ENSG00000084073 CDS Human protein_coding chr1:40758224 chr1:40758225 nonsynonymous SNV 0.997 4 hm6A_associated_SNPs_2705 1 not provided not provided RCV000128731.1
138 chr1 43906896 43906896 1 + A G rs2027130 43906891 + 43906871 43906911 41 TGCATTGCCCCCAGAGTAAAACAGAATGTGGGGATTTGGGT TGCATTGCCCCCAGAGTAAAACAGAGTGTGGGGATTTGGGT < 41bp 1 0.225147252292267 1 0.453422248363495 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 26 SZT2 ENSG00000198198 CDS Human protein_coding chr1:43906891 chr1:43906896 synonymous SNV . 0 hm6A_associated_SNPs_2737 1 Benign not specified RCV000253624.1
139 chr1 43906935 43906935 1 + T C rs78858677 43906921 + 43906901 43906941 41 GGGATTTGGGTTCCCCCAAAACAACTGATGACATTGTCCTG GGGATTTGGGTTCCCCCAAAACAACTGATGACATCGTCCTG < 41bp 1 0.38738242568474 1 0.806660175323486 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 35 SZT2 ENSG00000198198 CDS Human protein_coding chr1:43906921 chr1:43906935 synonymous SNV . 0 hm6A_associated_SNPs_2738 1 other not specified RCV000245444.1
140 chr1 45976192 45976192 1 + C A rs79422588 45976201 + 45976181 45976221 41 ACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAG ACATAATGACAATAAAAAAGACTATCTCTAATCAAGGCTAG < 41bp 1 0.0872921926608887 1 0.964924097061157 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 MMACHC ENSG00000132763 UTR3 Human protein_coding chr1:45976201 chr1:45976192 . . 0 hm6A_associated_SNPs_2782 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000264172.1
141 chr1 53668063 53668063 1 + C T rs75939866 53668069 + 53668049 53668089 41 TGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAA TGAGCAGCTGGTTGTTCTGGACAAACAGAATAAACATACAA < 41bp 1 0.728971047718469 1 0.455852687358856 experiment 0.542057904563062 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 15 CPT2 ENSG00000157184 CDS Human protein_coding chr1:53668069 chr1:53668063 nonsynonymous SNV 0.988 1 hm6A_associated_SNPs_2845 1 Benign not specified RCV000124603.2
142 chr1 63877667 63877667 1 + A G rs61755863 63877678 + 63877658 63877698 41 CCATTCTTTACAGAAAGGGAACAAACCCTGCAGGTTCTAAG CCATTCTTTGCAGAAAGGGAACAAACCCTGCAGGTTCTAAG < 41bp 1 0.554831599115589 1 0.0133360624313354 experiment 0.890336801768822 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 10 ALG6 ENSG00000088035 CDS Human protein_coding chr1:63877678 chr1:63877667 nonsynonymous SNV 0.988 2 hm6A_associated_SNPs_2886 2 other not specified RCV000116318.3
143 chr1 63877667 63877667 1 + A G rs61755863 63877678 + 63877658 63877698 41 CCATTCTTTACAGAAAGGGAACAAACCCTGCAGGTTCTAAG CCATTCTTTGCAGAAAGGGAACAAACCCTGCAGGTTCTAAG < 41bp 1 0.554831599115589 1 0.0133360624313354 experiment 0.890336801768822 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 10 ALG6 ENSG00000088035 CDS Human protein_coding chr1:63877678 chr1:63877667 nonsynonymous SNV 0.988 2 hm6A_associated_SNPs_2886 2 Likely benign not provided RCV000224221.1
144 chr1 63902565 63902565 1 + A T rs140158304 63902570 + 63902550 63902590 41 TCCTCCTCAGAAACTACCGGACTTGTTTTCTGTATTGGTGT TCCTCCTCAGAAACTTCCGGACTTGTTTTCTGTATTGGTGT < 41bp 1 0.678458454680267 1 0.893887519836426 experiment 0.643083090639466 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 16 ALG6 ENSG00000088035 CDS Human protein_coding chr1:63902570 chr1:63902565 synonymous SNV . 0 hm6A_associated_SNPs_2887 1 Likely benign not specified RCV000424214.2
145 chr1 64095111 64095111 1 + A G rs855314 64095116 + 64095096 64095136 41 ATCGGTCGCTTGGTTATCGGACAGAATGGAATCCTCTCCAC ATCGGTCGCTTGGTTGTCGGACAGAATGGAATCCTCTCCAC < 41bp 1 0.484471121001599 1 0.910046935081482 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 16 PGM1 ENSG00000079739 CDS Human protein_coding chr1:64095116 chr1:64095111 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_2890 3 Likely benign Congenital disorder of glycosylation type 1t RCV000350881.1
146 chr1 64095111 64095111 1 + A G rs855314 64095116 + 64095096 64095136 41 ATCGGTCGCTTGGTTATCGGACAGAATGGAATCCTCTCCAC ATCGGTCGCTTGGTTGTCGGACAGAATGGAATCCTCTCCAC < 41bp 1 0.484471121001599 1 0.910046935081482 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 16 PGM1 ENSG00000079739 CDS Human protein_coding chr1:64095116 chr1:64095111 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_2890 3 Likely benign Congenital disorder of glycosylation RCV000389349.1
147 chr1 64095111 64095111 1 + A G rs855314 64095116 + 64095096 64095136 41 ATCGGTCGCTTGGTTATCGGACAGAATGGAATCCTCTCCAC ATCGGTCGCTTGGTTGTCGGACAGAATGGAATCCTCTCCAC < 41bp 1 0.484471121001599 1 0.910046935081482 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 16 PGM1 ENSG00000079739 CDS Human protein_coding chr1:64095116 chr1:64095111 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_2890 3 Benign not specified RCV000425439.1
148 chr1 64125439 64125439 1 + A C rs4643 64125422 + 64125402 64125442 41 GATTGAAGAGCATGACAGAAACAAAATGTATTCACCAAGCA GATTGAAGAGCATGACAGAAACAAAATGTATTCACCACGCA < 41bp 1 0.69357831773477 1 0.732960104942322 experiment 0.612843364530461 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 38 PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125422 chr1:64125439 . . 0 hm6A_associated_SNPs_2892 2 Likely benign Congenital disorder of glycosylation type 1t RCV000267936.1
149 chr1 64125439 64125439 1 + A C rs4643 64125422 + 64125402 64125442 41 GATTGAAGAGCATGACAGAAACAAAATGTATTCACCAAGCA GATTGAAGAGCATGACAGAAACAAAATGTATTCACCACGCA < 41bp 1 0.69357831773477 1 0.732960104942322 experiment 0.612843364530461 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 38 PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125422 chr1:64125439 . . 0 hm6A_associated_SNPs_2892 2 Likely benign Congenital disorder of glycosylation RCV000322974.1
150 chr1 64125439 64125439 1 + A C rs4643 64125455 + 64125435 64125475 41 ACCAAGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGA ACCACGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGA < 41bp 1 0.74788730128154 1 0.925260901451111 experiment 0.504225397436919 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 5 PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125455 chr1:64125439 . . 0 hm6A_associated_SNPs_2893 2 Likely benign Congenital disorder of glycosylation type 1t RCV000267936.1
151 chr1 64125439 64125439 1 + A C rs4643 64125455 + 64125435 64125475 41 ACCAAGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGA ACCACGCATTTTAGGATTTGACTTTTTCACTAACCAGTTGA < 41bp 1 0.74788730128154 1 0.925260901451111 experiment 0.504225397436919 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 5 PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125455 chr1:64125439 . . 0 hm6A_associated_SNPs_2893 2 Likely benign Congenital disorder of glycosylation RCV000322974.1
152 chr1 64125544 64125544 1 + C T rs10909 64125539 + 64125519 64125559 41 GGAGCTGTGAGGGAAAGAGGACCTGCGGGCTTAGATCAATC GGAGCTGTGAGGGAAAGAGGACCTGTGGGCTTAGATCAATC < 41bp 1 0.653872570327714 1 0.497225701808929 experiment 0.692254859344571 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 26 PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125539 chr1:64125544 . . 0 hm6A_associated_SNPs_2895 2 Likely benign Congenital disorder of glycosylation RCV000319415.1
153 chr1 64125544 64125544 1 + C T rs10909 64125539 + 64125519 64125559 41 GGAGCTGTGAGGGAAAGAGGACCTGCGGGCTTAGATCAATC GGAGCTGTGAGGGAAAGAGGACCTGTGGGCTTAGATCAATC < 41bp 1 0.653872570327714 1 0.497225701808929 experiment 0.692254859344571 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 26 PGM1 ENSG00000079739 UTR3 Human protein_coding chr1:64125539 chr1:64125544 . . 0 hm6A_associated_SNPs_2895 2 Likely benign Congenital disorder of glycosylation type 1t RCV000373952.1
154 chr1 76226846 76226846 1 + A C rs77931234 76226854 + 76226834 76226874 41 GAAATGGCAATGAAAGTTGAACTAGCTAGAATGAGTTACCA GAAATGGCAATGCAAGTTGAACTAGCTAGAATGAGTTACCA < 41bp 1 0.265172395387366 1 0.102126926183701 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 13 ACADM ENSG00000117054 CDS Human protein_coding chr1:76226854 chr1:76226846 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_2943 1 Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency RCV000211523.1
155 chr1 76228487 76228487 1 + G A rs17848065 76228481 + 76228461 76228501 41 AGAAATATTGAATAACTAGAACACAAGCCACTGTTTCAGCT AGAAATATTGAATAACTAGAACACAAACCACTGTTTCAGCT < 41bp 1 0.640744138738892 1 0.425139784812927 experiment 0.718511722522216 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 ACADM ENSG00000117054 UTR3 Human protein_coding chr1:76228481 chr1:76228487 . . 0 hm6A_associated_SNPs_2944 2 Benign Medium-chain acyl-coenzyme A dehydrogenase deficiency RCV000211552.1
156 chr1 76228487 76228487 1 + G A rs17848065 76228481 + 76228461 76228501 41 AGAAATATTGAATAACTAGAACACAAGCCACTGTTTCAGCT AGAAATATTGAATAACTAGAACACAAACCACTGTTTCAGCT < 41bp 1 0.640744138738892 1 0.425139784812927 experiment 0.718511722522216 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 ACADM ENSG00000117054 UTR3 Human protein_coding chr1:76228481 chr1:76228487 . . 0 hm6A_associated_SNPs_2944 2 Likely benign not specified RCV000253266.1
157 chr1 93299193 93299193 1 + G A rs58263806 93299194 + 93299174 93299214 41 ACAGGATGATAGTTCGTGTGACAAACAGAGATATCATTTGT ACAGGATGATAGTTCGTGTAACAAACAGAGATATCATTTGT < 41bp 1 0.591169500764257 1 0.108925342559814 experiment 0.817660998471486 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 20 RPL5 ENSG00000122406 CDS Human protein_coding chr1:93299194 chr1:93299193 synonymous SNV . 0 hm6A_associated_SNPs_3002 1 other Diamond-Blackfan anemia RCV000228141.3
158 chr1 93299193 93299193 1 + G A rs58263806 93299198 + 93299178 93299218 41 GATGATAGTTCGTGTGACAAACAGAGATATCATTTGTCAGG GATGATAGTTCGTGTAACAAACAGAGATATCATTTGTCAGG < 41bp 1 0.422261513613788 1 0.0771217346191406 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 16 RPL5 ENSG00000122406 CDS Human protein_coding chr1:93299198 chr1:93299193 synonymous SNV . 0 hm6A_associated_SNPs_3003 1 other Diamond-Blackfan anemia RCV000228141.3
159 chr1 93300404 93300404 1 + T C rs113792800 93300392 + 93300372 93300412 41 TGCGCAGCGTATGCACACGAACTGCCAAAATATGGTGTGAA TGCGCAGCGTATGCACACGAACTGCCAAAATACGGTGTGAA < 41bp 1 0.235247229938178 1 0.714282155036926 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 33 RPL5 ENSG00000122406 CDS Human protein_coding chr1:93300392 chr1:93300404 synonymous SNV . 0 hm6A_associated_SNPs_3004 2 other Diamond-Blackfan anemia RCV000232035.2
160 chr1 93300404 93300404 1 + T C rs113792800 93300392 + 93300372 93300412 41 TGCGCAGCGTATGCACACGAACTGCCAAAATATGGTGTGAA TGCGCAGCGTATGCACACGAACTGCCAAAATACGGTGTGAA < 41bp 1 0.235247229938178 1 0.714282155036926 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 33 RPL5 ENSG00000122406 CDS Human protein_coding chr1:93300392 chr1:93300404 synonymous SNV . 0 hm6A_associated_SNPs_3004 2 Benign not specified RCV000428153.1
161 chr1 93300404 93300404 1 + T C rs113792800 93300423 + 93300403 93300443 41 ATGGTGTGAAGGTTGGCCTGACAAATTATGCTGCAGCATAT ACGGTGTGAAGGTTGGCCTGACAAATTATGCTGCAGCATAT < 41bp 1 0.682421869245328 1 0.230795204639435 experiment 0.635156261509344 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 2 RPL5 ENSG00000122406 CDS Human protein_coding chr1:93300423 chr1:93300404 synonymous SNV . 0 hm6A_associated_SNPs_3005 2 other Diamond-Blackfan anemia RCV000232035.2
162 chr1 93300404 93300404 1 + T C rs113792800 93300423 + 93300403 93300443 41 ATGGTGTGAAGGTTGGCCTGACAAATTATGCTGCAGCATAT ACGGTGTGAAGGTTGGCCTGACAAATTATGCTGCAGCATAT < 41bp 1 0.682421869245328 1 0.230795204639435 experiment 0.635156261509344 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 2 RPL5 ENSG00000122406 CDS Human protein_coding chr1:93300423 chr1:93300404 synonymous SNV . 0 hm6A_associated_SNPs_3005 2 Benign not specified RCV000428153.1
163 chr1 100368346 100368346 1 + C T rs143076729 100368336 + 100368316 100368356 41 TGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTACAG TGGTCCCCAGATAGATCGAAACATGAAGGATGAAGGTACAG < 41bp 1 0.385109683340893 1 0.0830690860748291 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 31 AGL ENSG00000162688 CDS Human protein_coding chr1:100368336 chr1:100368346 synonymous SNV . 0 hm6A_associated_SNPs_3027 1 Likely benign not specified RCV000432210.1
164 chr1 100388503 100388503 1 + A C rs1804809 100388520 + 100388500 100388540 41 TTAAAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAA TTACAGAAGAAAACCAGCAAACTAAAACTTCTGGGCAGCAA < 41bp 1 0.114625258878869 1 0.0741018950939178 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 4 AGL ENSG00000162688 UTR3 Human protein_coding chr1:100388520 chr1:100388503 . . 0 hm6A_associated_SNPs_3028 1 Benign Glycogen storage disease type III RCV000398834.1
165 chr1 116234217 116234217 1 + C T rs41299565 116234202 + 116234182 116234222 41 CTGAAAAAGAGTGACTGATGACATCTGACTTTTGTCGATGG CTGAAAAAGAGTGACTGATGACATCTGACTTTTGTTGATGG < 41bp 1 0.70982387304472 1 0.987812519073486 experiment 0.580352253910559 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 36 VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234202 chr1:116234217 . . 0 hm6A_associated_SNPs_3119 2 Likely benign Neural tube defect RCV000342535.1
166 chr1 116234217 116234217 1 + C T rs41299565 116234202 + 116234182 116234222 41 CTGAAAAAGAGTGACTGATGACATCTGACTTTTGTCGATGG CTGAAAAAGAGTGACTGATGACATCTGACTTTTGTTGATGG < 41bp 1 0.70982387304472 1 0.987812519073486 experiment 0.580352253910559 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 36 VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234202 chr1:116234217 . . 0 hm6A_associated_SNPs_3119 2 Likely benign Caudal dysgenesis syndrome RCV000378537.1
167 chr1 116234383 116234383 1 + C G rs75277108 116234382 + 116234362 116234402 41 CACTTGTAGACTTCCAGGGGACACATCTTTATTCTGTTTCA CACTTGTAGACTTCCAGGGGAGACATCTTTATTCTGTTTCA Direct Loss 1 0.594155739542712 1 0.941192150115967 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 22 VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234382 chr1:116234383 . . 0 hm6A_associated_SNPs_3120 2 Likely benign Neural tube defect RCV000274308.1
168 chr1 116234383 116234383 1 + C G rs75277108 116234382 + 116234362 116234402 41 CACTTGTAGACTTCCAGGGGACACATCTTTATTCTGTTTCA CACTTGTAGACTTCCAGGGGAGACATCTTTATTCTGTTTCA Direct Loss 1 0.594155739542712 1 0.941192150115967 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 22 VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116234382 chr1:116234383 . . 0 hm6A_associated_SNPs_3120 2 Likely benign Caudal dysgenesis syndrome RCV000310701.1
169 chr1 116236489 116236489 1 + C T rs41299571 116236483 + 116236463 116236503 41 TTCTTTTTAAAAGGGGGTAAACTTCGCCCTAAGGCTGGTAG TTCTTTTTAAAAGGGGGTAAACTTCGTCCTAAGGCTGGTAG < 41bp 1 0.0259304366960111 1 0.143739581108093 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 27 VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116236483 chr1:116236489 . . 0 hm6A_associated_SNPs_3121 2 Likely benign Caudal dysgenesis syndrome RCV000308585.1
170 chr1 116236489 116236489 1 + C T rs41299571 116236483 + 116236463 116236503 41 TTCTTTTTAAAAGGGGGTAAACTTCGCCCTAAGGCTGGTAG TTCTTTTTAAAAGGGGGTAAACTTCGTCCTAAGGCTGGTAG < 41bp 1 0.0259304366960111 1 0.143739581108093 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 27 VANGL1 ENSG00000173218 UTR3 Human protein_coding chr1:116236483 chr1:116236489 . . 0 hm6A_associated_SNPs_3121 2 Likely benign Neural tube defect RCV000363286.1
171 chr1 120254506 120254506 1 + A G rs561931 120254500 + 120254480 120254520 41 TTCCGTCCAATCAAAAGGAGACTGTAAGAGGAGGAGGAGGA TTCCGTCCAATCAAAAGGAGACTGTAGGAGGAGGAGGAGGA < 41bp 1 0.724020373346113 1 0.905020475387573 experiment 0.551959253307774 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 27 PHGDH ENSG00000092621 upstream Human protein_coding chr1:120254500 chr1:120254506 . . 0 hm6A_associated_SNPs_3166 1 Benign Phosphoglycerate dehydrogenase deficiency RCV000267376.1
172 chr1 120266026 120266026 1 + C T rs115747918 120266032 + 120266012 120266052 41 AACAGCCTCAGTGCCGCAGAACTCACTTGTGGAATGATCAT AACAGCCTCAGTGCTGCAGAACTCACTTGTGGAATGATCAT < 41bp 1 0.240900961546607 1 0.294524133205414 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 PHGDH ENSG00000092621 CDS Human protein_coding chr1:120266032 chr1:120266026 synonymous SNV . 0 hm6A_associated_SNPs_3169 1 Likely benign Phosphoglycerate dehydrogenase deficiency RCV000348830.1
173 chr1 154245142 154245142 1 + T G rs11265425 154245160 + 154245140 154245180 41 TTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGG TTGCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGG < 41bp 1 0.0921736931825302 1 0.942103207111359 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 3 HAX1 ENSG00000143575 UTR5 Human protein_coding chr1:154245160 chr1:154245142 . . 0 hm6A_associated_SNPs_3254 1 Benign Severe congenital neutropenia RCV000370824.1
174 chr1 154245148 154245148 1 + G T rs578086387 154245160 + 154245140 154245180 41 TTTCCCCCGTCTGCGAATGGACCACTGGAGGGGTTCAAAGG TTTCCCCCTTCTGCGAATGGACCACTGGAGGGGTTCAAAGG < 41bp 1 0.0994477439812242 1 0.944801926612854 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 HAX1 ENSG00000143575 UTR5 Human protein_coding chr1:154245160 chr1:154245148 . . 0 hm6A_associated_SNPs_3255 1 Likely benign Severe congenital neutropenia RCV000326888.1
175 chr1 154245917 154245917 1 + T C rs13796 154245901 + 154245881 154245921 41 GGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTC GGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGCCCTC < 41bp 1 0.599756296298347 1 0.957030773162842 experiment 0.800487407403305 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 HAX1 ENSG00000143575 CDS Human protein_coding chr1:154245901 chr1:154245917 synonymous SNV . 0 hm6A_associated_SNPs_3256 2 Benign not specified RCV000251105.1
176 chr1 154245917 154245917 1 + T C rs13796 154245901 + 154245881 154245921 41 GGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGTCCTC GGGCTCATGGGGCCGTGGGAACCCAAGGTTCCATAGCCCTC < 41bp 1 0.599756296298347 1 0.957030773162842 experiment 0.800487407403305 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 HAX1 ENSG00000143575 CDS Human protein_coding chr1:154245901 chr1:154245917 synonymous SNV . 0 hm6A_associated_SNPs_3256 2 Likely benign Severe congenital neutropenia RCV000320585.1
177 chr1 156104245 156104245 1 + C T rs267607626 156104264 + 156104244 156104284 41 GCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGG GTGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGG < 41bp 1 0.755542929244989 1 0.778635859489441 experiment 0.488914141510022 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 LMNA ENSG00000160789 CDS Human protein_coding chr1:156104264 chr1:156104245 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_3295 2 not provided not provided RCV000057417.1
178 chr1 156104245 156104245 1 + C T rs267607626 156104264 + 156104244 156104284 41 GCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGG GTGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGG < 41bp 1 0.755542929244989 1 0.778635859489441 experiment 0.488914141510022 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 LMNA ENSG00000160789 CDS Human protein_coding chr1:156104264 chr1:156104245 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_3295 2 Uncertain significance Primary dilated cardiomyopathy RCV000148603.1
179 chr1 156106981 156106981 1 + C A rs149339264 156106968 + 156106948 156106988 41 CCTGGTGTGGAAGGCACAGAACACCTGGGGCTGCGGGAACA CCTGGTGTGGAAGGCACAGAACACCTGGGGCTGAGGGAACA < 41bp 1 0.429288411195842 1 0.475561738014221 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106968 chr1:156106981 stopgain 0.996 0 hm6A_associated_SNPs_3296 1 Likely pathogenic Cardiovascular phenotype RCV000250959.1
180 chr1 156106981 156106981 1 + C A rs149339264 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGAGGGAACAGCCTGCGTACGGCTCTCA < 41bp 1 0.369552213471422 1 0.175794303417206 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 16 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106981 stopgain 0.996 0 hm6A_associated_SNPs_3297 1 Likely pathogenic Cardiovascular phenotype RCV000250959.1
181 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign not specified RCV000041323.2
182 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Lethal tight skin contracture syndrome RCV000268685.1
183 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Congenital muscular dystrophy, LMNA-related RCV000272639.1
184 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules RCV000276010.1
185 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Hutchinson-Gilford syndrome RCV000284072.1
186 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Dilated Cardiomyopathy, Dominant RCV000297337.1
187 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Emery-Dreifuss muscular dystrophy RCV000312611.1
188 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Mandibuloacral dysplasia RCV000323895.1
189 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Familial partial lipodystrophy RCV000327741.1
190 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000370762.1
191 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Likely benign Charcot-Marie-Tooth, Type 2 RCV000378454.1
192 chr1 156106999 156106999 1 + G A rs80356812 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGCGTACAGCTCTCA < 41bp 1 0.365067328536021 1 0.173268258571625 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106999 synonymous SNV . 0 hm6A_associated_SNPs_3298 12 Benign Charcot-Marie-Tooth disease, type 2 RCV000464925.1
193 chr1 160098543 160098543 1 + G A rs1063125 160098545 + 160098525 160098565 41 CACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCC CACGTCCACCATCTGCTCAGACAAGACGGGCACCCTCACCC < 41bp 1 0.669515725528826 1 0.908760905265808 experiment 0.660968548942348 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 19 ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160098545 chr1:160098543 synonymous SNV . 0 hm6A_associated_SNPs_3314 3 other not specified RCV000116446.4
194 chr1 160098543 160098543 1 + G A rs1063125 160098545 + 160098525 160098565 41 CACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCC CACGTCCACCATCTGCTCAGACAAGACGGGCACCCTCACCC < 41bp 1 0.669515725528826 1 0.908760905265808 experiment 0.660968548942348 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 19 ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160098545 chr1:160098543 synonymous SNV . 0 hm6A_associated_SNPs_3314 3 Benign Alternating hemiplegia of childhood RCV000328389.1
195 chr1 160098543 160098543 1 + G A rs1063125 160098545 + 160098525 160098565 41 CACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCC CACGTCCACCATCTGCTCAGACAAGACGGGCACCCTCACCC < 41bp 1 0.669515725528826 1 0.908760905265808 experiment 0.660968548942348 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 19 ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160098545 chr1:160098543 synonymous SNV . 0 hm6A_associated_SNPs_3314 3 Benign Familial hemiplegic migraine RCV000359522.1
196 chr1 160098549 160098549 1 + G A rs61734526 160098545 + 160098525 160098565 41 CACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCC CACGTCCACCATCTGCTCGGACAAAACGGGCACCCTCACCC < 41bp 1 0.720637957463325 1 0.966445207595825 experiment 0.558724085073349 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 25 ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160098545 chr1:160098549 synonymous SNV . 0 hm6A_associated_SNPs_3315 1 Benign not specified RCV000180520.2
197 chr1 160111794 160111794 1 + T C rs60949592 160111775 + 160111755 160111795 41 TGCCAATGACAGGACATTTGACATGAGTCTCCAGATAGATG TGCCAATGACAGGACATTTGACATGAGTCTCCAGATAGACG < 41bp 1 0.213869443246609 1 0.108403295278549 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 40 ATP1A2 ENSG00000018625 UTR3 Human protein_coding chr1:160111775 chr1:160111794 . . 0 hm6A_associated_SNPs_3316 2 Likely benign Familial hemiplegic migraine RCV000323749.1
198 chr1 160111794 160111794 1 + T C rs60949592 160111775 + 160111755 160111795 41 TGCCAATGACAGGACATTTGACATGAGTCTCCAGATAGATG TGCCAATGACAGGACATTTGACATGAGTCTCCAGATAGACG < 41bp 1 0.213869443246609 1 0.108403295278549 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 40 ATP1A2 ENSG00000018625 UTR3 Human protein_coding chr1:160111775 chr1:160111794 . . 0 hm6A_associated_SNPs_3316 2 Likely benign Alternating hemiplegia of childhood RCV000371521.1
199 chr1 161332835 161332835 1 + C T rs16865495 161332832 + 161332812 161332852 41 GAGAAAATATATAGCTTTGGACACGAGGAAGATCTAGAAAA GAGAAAATATATAGCTTTGGACATGAGGAAGATCTAGAAAA < 41bp 1 0.674657103890993 1 0.0668974220752716 experiment 0.650685792218014 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 24 SDHC ENSG00000143252 UTR3 Human protein_coding chr1:161332832 chr1:161332835 . . 0 hm6A_associated_SNPs_3337 1 Benign Pheochromocytoma RCV000394895.1
200 chr1 161332847 161332847 1 + A G rs114438179 161332832 + 161332812 161332852 41 GAGAAAATATATAGCTTTGGACACGAGGAAGATCTAGAAAA GAGAAAATATATAGCTTTGGACACGAGGAAGATCTGGAAAA < 41bp 1 0.600219599220704 1 0.12463054060936 experiment 0.799560801558592 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 36 SDHC ENSG00000143252 UTR3 Human protein_coding chr1:161332832 chr1:161332847 . . 0 hm6A_associated_SNPs_3338 1 Benign Pheochromocytoma RCV000300066.1
201 chr1 173808677 173808677 1 + G A rs141298312 173808665 + 173808645 173808685 41 CTATGGAACTGATAAACCTGACACTCGCTTTGGAATGAAGG CTATGGAACTGATAAACCTGACACTCGCTTTGAAATGAAGG < 41bp 1 0.661355447841646 1 0.648222684860229 experiment 0.677289104316709 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 33 DARS2 ENSG00000117593 CDS Human protein_coding chr1:173808665 chr1:173808677 nonsynonymous SNV 0.993 0 hm6A_associated_SNPs_3428 1 Likely benign Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation RCV000300335.1
202 chr1 179887125 179887125 1 + G A rs627897 179887112 + 179887092 179887132 41 GATCTTCTACAAATATTGTGACCATGAAAACGCGGCCTTCA GATCTTCTACAAATATTGTGACCATGAAAACGCAGCCTTCA < 41bp 1 0.772365841152634 1 0.950664222240448 experiment 0.455268317694732 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 34 TOR1AIP1 ENSG00000143337 CDS Human protein_coding chr1:179887112 chr1:179887125 synonymous SNV . 0 hm6A_associated_SNPs_3469 1 Benign not specified RCV000250769.1
203 chr1 181018258 181018258 1 + G A rs3863720 181018272 + 181018252 181018292 41 TATTTCGGTTGGGTACGTGGACTCGCACCCTATCACCACAT TATTTCAGTTGGGTACGTGGACTCGCACCCTATCACCACAT < 41bp 1 0.284389760001421 1 0.878353357315063 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 7 MR1 ENSG00000153029 CDS Human protein_coding chr1:181018272 chr1:181018258 synonymous SNV . 0 hm6A_associated_SNPs_3493 1 Likely benign not specified RCV000117632.2
204 chr1 183212897 183212897 1 + T C rs6687880 183212913 + 183212893 183212933 41 CTTATTCTTTGAGTAATGTGACTAAAGGAAAAAACTTTGAC CTTACTCTTTGAGTAATGTGACTAAAGGAAAAAACTTTGAC < 41bp 1 0.253757914215246 1 0.563341379165649 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 5 LAMC2 ENSG00000058085 UTR3 Human protein_coding chr1:183212913 chr1:183212897 . . 0 hm6A_associated_SNPs_3519 1 Likely benign Epidermolysis bullosa, junctional RCV000332819.1
205 chr1 183213632 183213632 1 + C T rs76939882 183213619 + 183213599 183213639 41 GGGCTGGTGGGACAGTGGTGACATAGTCTCTGCCCTCATAG GGGCTGGTGGGACAGTGGTGACATAGTCTCTGCTCTCATAG < 41bp 1 0.307462453450064 1 0.00399294495582581 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 LAMC2 ENSG00000058085 UTR3 Human protein_coding chr1:183213619 chr1:183213632 . . 0 hm6A_associated_SNPs_3520 1 Likely benign Epidermolysis bullosa, junctional RCV000353489.1
206 chr1 193202153 193202153 1 + A G rs116358657 193202150 + 193202130 193202170 41 CCATCAGATGAAAAGAAGAAACAAGGTTGTCAACGAGAAAA CCATCAGATGAAAAGAAGAAACAGGGTTGTCAACGAGAAAA < 41bp 1 0.392589974681895 1 0.686991572380066 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 24 CDC73 ENSG00000134371 CDS Human protein_coding chr1:193202150 chr1:193202153 synonymous SNV . 0 hm6A_associated_SNPs_3549 1 Benign Parathyroid carcinoma RCV000229028.2
207 chr1 193221341 193221341 1 + T A rs138503809 193221335 + 193221315 193221355 41 ACTAGATTTTAGCATACTTAACAAGGTTTGAACAGATTCTA ACTAGATTTTAGCATACTTAACAAGGATTGAACAGATTCTA < 41bp 1 0.061305679765806 1 0.232650816440582 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 27 CDC73 ENSG00000134371 UTR3 Human protein_coding chr1:193221335 chr1:193221341 . . 0 hm6A_associated_SNPs_3550 3 Likely benign Isolated Hyperparathyroidism RCV000284081.1
208 chr1 193221341 193221341 1 + T A rs138503809 193221335 + 193221315 193221355 41 ACTAGATTTTAGCATACTTAACAAGGTTTGAACAGATTCTA ACTAGATTTTAGCATACTTAACAAGGATTGAACAGATTCTA < 41bp 1 0.061305679765806 1 0.232650816440582 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 27 CDC73 ENSG00000134371 UTR3 Human protein_coding chr1:193221335 chr1:193221341 . . 0 hm6A_associated_SNPs_3550 3 Likely benign Hyperparathyroidism 2 RCV000347066.1
209 chr1 193221341 193221341 1 + T A rs138503809 193221335 + 193221315 193221355 41 ACTAGATTTTAGCATACTTAACAAGGTTTGAACAGATTCTA ACTAGATTTTAGCATACTTAACAAGGATTGAACAGATTCTA < 41bp 1 0.061305679765806 1 0.232650816440582 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 27 CDC73 ENSG00000134371 UTR3 Human protein_coding chr1:193221335 chr1:193221341 . . 0 hm6A_associated_SNPs_3550 3 Likely benign Parathyroid carcinoma RCV000403103.1
210 chr1 193221341 193221341 1 + T A rs138503809 193221346 + 193221326 193221366 41 GCATACTTAACAAGGTTTGAACAGATTCTACCCCTATTTTC GCATACTTAACAAGGATTGAACAGATTCTACCCCTATTTTC < 41bp 1 0.0941567099613086 1 0.124983906745911 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 16 CDC73 ENSG00000134371 UTR3 Human protein_coding chr1:193221346 chr1:193221341 . . 0 hm6A_associated_SNPs_3551 3 Likely benign Isolated Hyperparathyroidism RCV000284081.1
211 chr1 193221341 193221341 1 + T A rs138503809 193221346 + 193221326 193221366 41 GCATACTTAACAAGGTTTGAACAGATTCTACCCCTATTTTC GCATACTTAACAAGGATTGAACAGATTCTACCCCTATTTTC < 41bp 1 0.0941567099613086 1 0.124983906745911 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 16 CDC73 ENSG00000134371 UTR3 Human protein_coding chr1:193221346 chr1:193221341 . . 0 hm6A_associated_SNPs_3551 3 Likely benign Hyperparathyroidism 2 RCV000347066.1
212 chr1 193221341 193221341 1 + T A rs138503809 193221346 + 193221326 193221366 41 GCATACTTAACAAGGTTTGAACAGATTCTACCCCTATTTTC GCATACTTAACAAGGATTGAACAGATTCTACCCCTATTTTC < 41bp 1 0.0941567099613086 1 0.124983906745911 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 16 CDC73 ENSG00000134371 UTR3 Human protein_coding chr1:193221346 chr1:193221341 . . 0 hm6A_associated_SNPs_3551 3 Likely benign Parathyroid carcinoma RCV000403103.1
213 chr1 196711150 196711150 1 + T C rs34594237 196711160 + 196711140 196711180 41 CATGCATTAATAGCAGATGGACAGGAAGGCCAACATGCAGA CATGCATTAACAGCAGATGGACAGGAAGGCCAACATGCAGA < 41bp 1 0.25165957957886 1 0.706532180309296 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 11 CFH ENSG00000000971 CDS Human protein_coding chr1:196711160 chr1:196711150 synonymous SNV . 0 hm6A_associated_SNPs_3553 4 Likely benign Atypical hemolytic uremic syndrome RCV000260498.1
214 chr1 196711150 196711150 1 + T C rs34594237 196711160 + 196711140 196711180 41 CATGCATTAATAGCAGATGGACAGGAAGGCCAACATGCAGA CATGCATTAACAGCAGATGGACAGGAAGGCCAACATGCAGA < 41bp 1 0.25165957957886 1 0.706532180309296 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 11 CFH ENSG00000000971 CDS Human protein_coding chr1:196711160 chr1:196711150 synonymous SNV . 0 hm6A_associated_SNPs_3553 4 Likely benign Macular degeneration RCV000318018.1
215 chr1 196711150 196711150 1 + T C rs34594237 196711160 + 196711140 196711180 41 CATGCATTAATAGCAGATGGACAGGAAGGCCAACATGCAGA CATGCATTAACAGCAGATGGACAGGAAGGCCAACATGCAGA < 41bp 1 0.25165957957886 1 0.706532180309296 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 11 CFH ENSG00000000971 CDS Human protein_coding chr1:196711160 chr1:196711150 synonymous SNV . 0 hm6A_associated_SNPs_3553 4 Likely benign Basal laminar drusen RCV000355052.1
216 chr1 196711150 196711150 1 + T C rs34594237 196711160 + 196711140 196711180 41 CATGCATTAATAGCAGATGGACAGGAAGGCCAACATGCAGA CATGCATTAACAGCAGATGGACAGGAAGGCCAACATGCAGA < 41bp 1 0.25165957957886 1 0.706532180309296 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 11 CFH ENSG00000000971 CDS Human protein_coding chr1:196711160 chr1:196711150 synonymous SNV . 0 hm6A_associated_SNPs_3553 4 Likely benign Mesangiocapillary glomerulonephritis, type II RCV000356426.1
217 chr1 207968257 207968257 1 + T C rs14374 207968237 + 207968217 207968257 41 GCACAAATTGGGCCAAAGAAACATTGCCTTGAGGAAGATAT GCACAAATTGGGCCAAAGAAACATTGCCTTGAGGAAGATAC < 41bp 1 0.323013828477143 1 0.710481643676758 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 41 CD46 ENSG00000117335 UTR3 Human protein_coding chr1:207968237 chr1:207968257 . . 0 hm6A_associated_SNPs_3658 1 Likely benign Atypical hemolytic uremic syndrome RCV000378761.1
218 chr1 213046088 213046088 1 + G A rs41297444 213046074 + 213046054 213046094 41 GGCTCAAGCAGCTCTTCAAGACAGTCCCCCTGAAGAGTACT GGCTCAAGCAGCTCTTCAAGACAGTCCCCCTGAAAAGTACT < 41bp 1 0.583412971517423 1 0.719628214836121 experiment 0.833174056965153 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 35 FLVCR1 ENSG00000162769 CDS Human protein_coding chr1:213046074 chr1:213046088 nonsynonymous SNV 0.995 0 hm6A_associated_SNPs_3678 1 Uncertain significance Posterior column ataxia with retinitis pigmentosa RCV000266137.1
219 chr1 213071341 213071341 1 + T C rs1284855 213071323 + 213071303 213071343 41 TGTAAATTATGTCGAATCTGACCCTGGGGAATGTGTTATCT TGTAAATTATGTCGAATCTGACCCTGGGGAATGTGTTACCT < 41bp 1 0.0507351794651644 1 0.716123759746552 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 39 FLVCR1 ENSG00000162769 UTR3 Human protein_coding chr1:213071323 chr1:213071341 . . 0 hm6A_associated_SNPs_3679 1 Benign Posterior column ataxia with retinitis pigmentosa RCV000388025.1
220 chr1 213071600 213071600 1 + G A rs10902 213071594 + 213071574 213071614 41 TTCCCTGGACAATTGGATAAACAAATGTGATTGCTACCTTA TTCCCTGGACAATTGGATAAACAAATATGATTGCTACCTTA < 41bp 1 0.282538877017963 1 0.913761854171753 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 27 FLVCR1 ENSG00000162769 UTR3 Human protein_coding chr1:213071594 chr1:213071600 . . 0 hm6A_associated_SNPs_3680 1 Benign Posterior column ataxia with retinitis pigmentosa RCV000338233.1
221 chr1 214819141 214819141 1 + G C rs571947577 214819147 + 214819127 214819167 41 TCTGAAAGCCTGCAGGCCAGACTGAGTGAATCAGATTATGA TCTGAAAGCCTGCACGCCAGACTGAGTGAATCAGATTATGA < 41bp 1 0.676621208767253 1 0.998927116394043 experiment 0.646757582465494 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 15 CENPF ENSG00000117724 CDS Human protein_coding chr1:214819147 chr1:214819141 nonsynonymous SNV 0.614 0 hm6A_associated_SNPs_3706 1 Uncertain significance not specified RCV000493006.1
222 chr1 218614743 218614743 1 + G A rs11466412 218614735 + 218614715 218614755 41 AAAGTGGCAAGACCAAAATGACAATGATGATGATAATGATG AAAGTGGCAAGACCAAAATGACAATGATAATGATAATGATG < 41bp 1 0.244569166101132 1 0.998421251773834 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 29 MIR548F3 ENSG00000092969 UTR3 Human protein_coding chr1:218614735 chr1:218614743 . . 0 hm6A_associated_SNPs_3725 1 Likely benign Loeys-Dietz syndrome RCV000291063.1
223 chr1 220287740 220287740 1 + A G rs11800305 220287720 + 220287700 220287740 41 TGGCATGGTTGAAATGATGGACAGGCGGCCATATTGGTGTA TGGCATGGTTGAAATGATGGACAGGCGGCCATATTGGTGTG < 41bp 1 0.669534985789916 1 0.937623023986816 experiment 0.660930028420168 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31548708;GSE125780;DART-seq;HEK293T;Control 41 IARS2 ENSG00000067704 CDS Human protein_coding chr1:220287720 chr1:220287740 nonsynonymous SNV 0.999 3 hm6A_associated_SNPs_3730 1 Benign not specified RCV000443724.1
224 chr1 227073271 227073271 1 + C T rs63750197 227073262 + 227073242 227073282 41 CTACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGC CTACACGCCATTCACTGAGGACACACCCTTGGTGGGCCAGC < 41bp 1 0.662661319332068 1 0.786646842956543 experiment 0.674677361335865 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 PSEN2 ENSG00000143801 CDS Human protein_coding chr1:227073262 chr1:227073271 nonsynonymous SNV 0.931 3 hm6A_associated_SNPs_3799 4 Pathogenic Dilated cardiomyopathy 1V RCV000009400.3
225 chr1 227073271 227073271 1 + C T rs63750197 227073262 + 227073242 227073282 41 CTACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGC CTACACGCCATTCACTGAGGACACACCCTTGGTGGGCCAGC < 41bp 1 0.662661319332068 1 0.786646842956543 experiment 0.674677361335865 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 PSEN2 ENSG00000143801 CDS Human protein_coding chr1:227073262 chr1:227073271 nonsynonymous SNV 0.931 3 hm6A_associated_SNPs_3799 4 Pathogenic Alzheimer disease, type 4 RCV000009401.3
226 chr1 227073271 227073271 1 + C T rs63750197 227073262 + 227073242 227073282 41 CTACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGC CTACACGCCATTCACTGAGGACACACCCTTGGTGGGCCAGC < 41bp 1 0.662661319332068 1 0.786646842956543 experiment 0.674677361335865 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 PSEN2 ENSG00000143801 CDS Human protein_coding chr1:227073262 chr1:227073271 nonsynonymous SNV 0.931 3 hm6A_associated_SNPs_3799 4 not provided not provided RCV000084261.1
227 chr1 227073271 227073271 1 + C T rs63750197 227073262 + 227073242 227073282 41 CTACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGC CTACACGCCATTCACTGAGGACACACCCTTGGTGGGCCAGC < 41bp 1 0.662661319332068 1 0.786646842956543 experiment 0.674677361335865 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 PSEN2 ENSG00000143801 CDS Human protein_coding chr1:227073262 chr1:227073271 nonsynonymous SNV 0.931 3 hm6A_associated_SNPs_3799 4 Likely benign Alzheimer's disease RCV000172588.1
228 chr1 227174787 227174787 1 + G A rs113041399 227174800 + 227174780 227174820 41 GTTCAGTGCAAAACCCAGAAACATGAACAGATACGATTGTG GTTCAGTACAAAACCCAGAAACATGAACAGATACGATTGTG < 41bp 1 0.288285496837091 1 0.912429690361023 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 8 COQ8A ENSG00000163050 UTR3 Human protein_coding chr1:227174800 chr1:227174787 . . 0 hm6A_associated_SNPs_3801 2 Uncertain significance Spinocerebellar Ataxia, Recessive RCV000316763.1
229 chr1 227174787 227174787 1 + G A rs113041399 227174800 + 227174780 227174820 41 GTTCAGTGCAAAACCCAGAAACATGAACAGATACGATTGTG GTTCAGTACAAAACCCAGAAACATGAACAGATACGATTGTG < 41bp 1 0.288285496837091 1 0.912429690361023 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 8 COQ8A ENSG00000163050 UTR3 Human protein_coding chr1:227174800 chr1:227174787 . . 0 hm6A_associated_SNPs_3801 2 Uncertain significance Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type RCV000355080.1
230 chr1 227174787 227174787 1 + G A rs113041399 227174806 + 227174786 227174826 41 TGCAAAACCCAGAAACATGAACAGATACGATTGTGGGATTT TACAAAACCCAGAAACATGAACAGATACGATTGTGGGATTT < 41bp 1 0.394657911790106 1 0.918834269046783 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 2 COQ8A ENSG00000163050 UTR3 Human protein_coding chr1:227174806 chr1:227174787 . . 0 hm6A_associated_SNPs_3802 2 Uncertain significance Spinocerebellar Ataxia, Recessive RCV000316763.1
231 chr1 227174787 227174787 1 + G A rs113041399 227174806 + 227174786 227174826 41 TGCAAAACCCAGAAACATGAACAGATACGATTGTGGGATTT TACAAAACCCAGAAACATGAACAGATACGATTGTGGGATTT < 41bp 1 0.394657911790106 1 0.918834269046783 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 2 COQ8A ENSG00000163050 UTR3 Human protein_coding chr1:227174806 chr1:227174787 . . 0 hm6A_associated_SNPs_3802 2 Uncertain significance Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type RCV000355080.1
232 chr1 235530802 235530802 1 + T C rs55980101 235530797 + 235530777 235530817 41 TGGAGGGGCTGCTGCTGGGAACACCTGGAGTCTCCGCGGGC TGGAGGGGCTGCTGCTGGGAACACCCGGAGTCTCCGCGGGC < 41bp 1 0.229234340816852 1 0.844092607498169 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 26 TBCE ENSG00000116957 UTR5 Human protein_coding chr1:235530797 chr1:235530802 . . 0 hm6A_associated_SNPs_3895 1 Likely benign Hypoparathyroidism retardation dysmorphism syndrome RCV000390069.1
233 chr1 235602193 235602193 1 + A G rs16832619 235602181 + 235602161 235602201 41 ACATAAGGATCCGGAAAAAAACAGACTCAGCGAAGAATTCC ACATAAGGATCCGGAAAAAAACAGACTCAGCGGAGAATTCC < 41bp 1 0.662288228658135 1 0.944408059120178 experiment 0.67542354268373 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 TBCE ENSG00000116957 CDS Human protein_coding chr1:235602181 chr1:235602193 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_3897 1 Likely benign Hypoparathyroidism retardation dysmorphism syndrome RCV000358804.1
234 chr1 235612185 235612185 1 + A G rs78867315 235612202 + 235612182 235612222 41 TACAACTTGTCCTAAGTATAACAAGGGATGTATTTTTTGTT TACGACTTGTCCTAAGTATAACAAGGGATGTATTTTTTGTT < 41bp 1 0.504281908405441 1 0.128981232643127 experiment 0.991436183189119 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 4 B3GALNT2;TBCE ENSG00000116957 UTR3 Human protein_coding chr1:235612202 chr1:235612185 . . 0 hm6A_associated_SNPs_3898 1 Uncertain significance Hypoparathyroidism retardation dysmorphism syndrome RCV000383617.1
235 chr1 235612219 235612219 1 + T A rs7537 235612202 + 235612182 235612222 41 TACAACTTGTCCTAAGTATAACAAGGGATGTATTTTTTGTT TACAACTTGTCCTAAGTATAACAAGGGATGTATTTTTAGTT < 41bp 1 0.510179832453257 1 0.0670304298400879 experiment 0.979640335093487 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 38 B3GALNT2;TBCE ENSG00000116957 UTR3 Human protein_coding chr1:235612202 chr1:235612219 . . 0 hm6A_associated_SNPs_3899 1 Benign Hypoparathyroidism retardation dysmorphism syndrome RCV000291613.1
236 chr1 236646627 236646627 1 + A C rs61740488 236646616 + 236646596 236646636 41 TGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATA TGAGGTCCTAGAGCTCCAGGACAATGATAAGCCTCGCTATA < 41bp 1 0.71609204252387 1 0.964731335639954 experiment 0.56781591495226 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 32 EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236646616 chr1:236646627 . . 0 hm6A_associated_SNPs_3900 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000369022.1
237 chr1 236646631 236646631 1 + G A rs61740486 236646616 + 236646596 236646636 41 TGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCGCTATA TGAGGTCCTAGAGCTCCAGGACAATGATAAGACTCACTATA < 41bp 1 0.703667935707885 1 0.96552574634552 experiment 0.59266412858423 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 36 EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236646616 chr1:236646631 . . 0 hm6A_associated_SNPs_3901 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000276600.1
238 chr1 236646631 236646631 1 + G A rs61740486 236646627 + 236646607 236646647 41 AGCTCCAGGACAATGATAAGACTCGCTATATGGGGAAGGGT AGCTCCAGGACAATGATAAGACTCACTATATGGGGAAGGGT < 41bp 1 0.383779262491882 1 0.972822666168213 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236646627 chr1:236646631 . . 0 hm6A_associated_SNPs_3902 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000276600.1
239 chr1 236647736 236647736 1 + C T rs6428955 236647744 + 236647724 236647764 41 GGCTAAGTTTGCCGGCAGGAACTTCAGAAACCCCCCAGCCA GGCTAAGTTTGCTGGCAGGAACTTCAGAAACCCCCCAGCCA < 41bp 1 0.568016033592997 1 0.989682078361511 experiment 0.863967932814006 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 EDARADD ENSG00000244457 ncRNA_exonic Human transcribed_processed_pseudogene chr1:236647744 chr1:236647736 . . 0 hm6A_associated_SNPs_3904 1 Likely benign Hypohidrotic Ectodermal Dysplasia, Recessive RCV000268785.1
240 chr1 237061056 237061056 1 + A C rs2853522 237061050 + 237061030 237061070 41 AACCTGTGTGCATCTGGCTGACACTTACCTGCTTCTGGTTT AACCTGTGTGCATCTGGCTGACACTTCCCTGCTTCTGGTTT < 41bp 1 0.655313307575716 1 0.303327023983002 experiment 0.689373384848568 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|28920958;GSE98623;miCLIP;MOLM13;Control 27 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237061050 chr1:237061056 . . 0 hm6A_associated_SNPs_3913 1 Benign Disorders of Intracellular Cobalamin Metabolism RCV000369614.1
241 chr1 237061097 237061097 1 + A G rs11799670 237061077 + 237061057 237061097 41 CCTGCTTCTGGTTTTCGAAGACTATTTAGTGGAACCTTGTA CCTGCTTCTGGTTTTCGAAGACTATTTAGTGGAACCTTGTG < 41bp 1 0.680648249954634 1 0.726202011108398 experiment 0.638703500090732 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 41 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237061077 chr1:237061097 . . 0 hm6A_associated_SNPs_3916 1 Likely benign Disorders of Intracellular Cobalamin Metabolism RCV000394909.1
242 chr1 237061409 237061409 1 + T A rs114724980 237061411 + 237061391 237061431 41 TTTTAATCTAAGTGGTTATAACAGTGGATTCTGACGGGGAA TTTTAATCTAAGTGGTTAAAACAGTGGATTCTGACGGGGAA < 41bp 1 0.443133301349071 1 0.825571358203888 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237061411 chr1:237061409 . . 0 hm6A_associated_SNPs_3918 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000261991.1
243 chr1 237062077 237062077 1 + C T rs543533866 237062086 + 237062066 237062106 41 GATATCCCGTGCGGAGTTGGACAAGTGGGCAGCATAAAGTC GATATCCCGTGTGGAGTTGGACAAGTGGGCAGCATAAAGTC < 41bp 1 0.577915178646196 1 0.0393427908420563 experiment 0.844169642707608 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 12 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237062086 chr1:237062077 . . 0 hm6A_associated_SNPs_3922 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000300258.1
244 chr1 237062529 237062529 1 + C T rs185371406 237062518 + 237062498 237062538 41 TTTATATGGAGTAGCAAAGGACTTAAAATTACCAAATGCTT TTTATATGGAGTAGCAAAGGACTTAAAATTATCAAATGCTT < 41bp 1 0.53042549695229 1 0.988508641719818 experiment 0.93914900609542 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237062518 chr1:237062529 . . 0 hm6A_associated_SNPs_3923 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000386240.1
245 chr1 237062628 237062628 1 + C T rs1804742 237062640 + 237062620 237062660 41 TAGGCATTCTGAGCAGGGGAACAAAATAAGGGCCTAGAAAC TAGGCATTTTGAGCAGGGGAACAAAATAAGGGCCTAGAAAC < 41bp 1 0.422785911582402 1 0.066169261932373 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 9 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237062640 chr1:237062628 . . 0 hm6A_associated_SNPs_3924 1 Benign Disorders of Intracellular Cobalamin Metabolism RCV000332108.1
246 chr1 237062688 237062688 1 + A G rs114324996 237062701 + 237062681 237062721 41 CTTTGCAAAATGACCTGGTGACATGGCAAGTCAGTGGGGAC CTTTGCAGAATGACCTGGTGACATGGCAAGTCAGTGGGGAC < 41bp 1 0.442287146948747 1 0.0140278041362762 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 8 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237062701 chr1:237062688 . . 0 hm6A_associated_SNPs_3925 1 Uncertain significance Disorders of Intracellular Cobalamin Metabolism RCV000278053.1
247 chr1 237066826 237066826 1 + G A rs2282368 237066810 + 237066790 237066830 41 GCTTTTAAGTATTATTATAGACTTTTGGAGACTCACGAAAC GCTTTTAAGTATTATTATAGACTTTTGGAGACTCACAAAAC < 41bp 1 0.237672982531433 1 0.90527868270874 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 37 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237066810 chr1:237066826 . . 0 hm6A_associated_SNPs_3929 1 Benign Disorders of Intracellular Cobalamin Metabolism RCV000309767.1
248 chr1 237066826 237066826 1 + G A rs2282368 237066820 + 237066800 237066840 41 ATTATTATAGACTTTTGGAGACTCACGAAACAAGCAATCCC ATTATTATAGACTTTTGGAGACTCACAAAACAAGCAATCCC < 41bp 1 0.0847921907319197 1 0.703984916210175 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 27 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237066820 chr1:237066826 . . 0 hm6A_associated_SNPs_3930 1 Benign Disorders of Intracellular Cobalamin Metabolism RCV000309767.1
249 chr1 237066826 237066826 1 + G A rs2282368 237066829 + 237066809 237066849 41 GACTTTTGGAGACTCACGAAACAAGCAATCCCTAAATTCTC GACTTTTGGAGACTCACAAAACAAGCAATCCCTAAATTCTC < 41bp 1 0.114484790339195 1 0.282066345214844 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 18 MTR ENSG00000116984 UTR3 Human protein_coding chr1:237066829 chr1:237066826 . . 0 hm6A_associated_SNPs_3931 1 Benign Disorders of Intracellular Cobalamin Metabolism RCV000309767.1
250 chr1 237996734 237996734 1 + C A rs143228973 237996754 + 237996734 237996774 41 CTTTGTATGAAAACAAAAAGACTGCAAAAAATACACTTTCA ATTTGTATGAAAACAAAAAGACTGCAAAAAATACACTTTCA < 41bp 1 0.0386412555759358 1 0.989266514778137 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 1 RYR2 ENSG00000198626 UTR3 Human protein_coding chr1:237996754 chr1:237996734 . . 0 hm6A_associated_SNPs_3934 2 Likely benign Cardiomyopathy, ARVC RCV000264132.1
251 chr1 237996734 237996734 1 + C A rs143228973 237996754 + 237996734 237996774 41 CTTTGTATGAAAACAAAAAGACTGCAAAAAATACACTTTCA ATTTGTATGAAAACAAAAAGACTGCAAAAAATACACTTTCA < 41bp 1 0.0386412555759358 1 0.989266514778137 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 1 RYR2 ENSG00000198626 UTR3 Human protein_coding chr1:237996754 chr1:237996734 . . 0 hm6A_associated_SNPs_3934 2 Likely benign Catecholaminergic polymorphic ventricular tachycardia RCV000365769.1
252 chr1 240255940 240255940 1 + G A rs148480631 240255954 + 240255934 240255974 41 CAGCTCGGGCTCGGACACGGACATCTATAGCTTCCATTCGG CAGCTCAGGCTCGGACACGGACATCTATAGCTTCCATTCGG < 41bp 1 0.629976507791682 1 0.999966621398926 experiment 0.740046984416636 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 FMN2 ENSG00000155816 CDS Human protein_coding chr1:240255954 chr1:240255940 synonymous SNV . 0 hm6A_associated_SNPs_3937 1 Likely benign not specified RCV000503506.1
253 chr1 240256761 240256761 1 + T A rs145379416 240256778 + 240256758 240256798 41 CCCTGAGCCGAGGGTCCAGAACTGCCCTGGCCTCCGTAGCC CCCAGAGCCGAGGGTCCAGAACTGCCCTGGCCTCCGTAGCC < 41bp 1 0.157388150799246 1 0.992143034934998 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 4 FMN2 ENSG00000155816 CDS Human protein_coding chr1:240256778 chr1:240256761 nonsynonymous SNV 0.046 0 hm6A_associated_SNPs_3939 1 Likely benign not specified RCV000504389.1
254 chr1 243419429 243419429 1 + T A rs3904682 243419432 + 243419412 243419452 41 CTCGGAAGGGAGAAAGCTGGACATTTCCCCACGTAACTCCC CTCGGAAGGGAGAAAGCAGGACATTTCCCCACGTAACTCCC < 41bp 1 0.366382056349235 1 0.929407596588135 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 SDCCAG8 ENSG00000054282 UTR5 Human protein_coding chr1:243419432 chr1:243419429 . . 0 hm6A_associated_SNPs_3958 3 Benign not specified RCV000248394.1
255 chr1 243419429 243419429 1 + T A rs3904682 243419432 + 243419412 243419452 41 CTCGGAAGGGAGAAAGCTGGACATTTCCCCACGTAACTCCC CTCGGAAGGGAGAAAGCAGGACATTTCCCCACGTAACTCCC < 41bp 1 0.366382056349235 1 0.929407596588135 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 SDCCAG8 ENSG00000054282 UTR5 Human protein_coding chr1:243419432 chr1:243419429 . . 0 hm6A_associated_SNPs_3958 3 Benign Bardet-Biedl syndrome RCV000303141.1
256 chr1 243419429 243419429 1 + T A rs3904682 243419432 + 243419412 243419452 41 CTCGGAAGGGAGAAAGCTGGACATTTCCCCACGTAACTCCC CTCGGAAGGGAGAAAGCAGGACATTTCCCCACGTAACTCCC < 41bp 1 0.366382056349235 1 0.929407596588135 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 SDCCAG8 ENSG00000054282 UTR5 Human protein_coding chr1:243419432 chr1:243419429 . . 0 hm6A_associated_SNPs_3958 3 Benign Renal dysplasia and retinal aplasia RCV000398595.1
257 chr1 245006474 245006474 1 + A G rs61749963 245006479 + 245006459 245006499 41 ACGGCAGCAGCAGCAATTGAACAATCTTGAGCATAGAAGTC ACGGCAGCAGCAGCAGTTGAACAATCTTGAGCATAGAAGTC < 41bp 1 0.772209159418249 1 0.817745923995972 experiment 0.455581681163501 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 16 COX20 ENSG00000203667 CDS Human protein_coding chr1:245006479 chr1:245006474 nonsynonymous SNV 0.078 0 hm6A_associated_SNPs_3967 1 Benign not specified RCV000124584.1
258 chr1 247587477 247587477 1 + G A rs3806268 247587470 + 247587450 247587490 41 GGCCAGGAAGATGATGTTGGACTGGGCGTCGGGGACACTCT GGCCAGGAAGATGATGTTGGACTGGGCATCGGGGACACTCT < 41bp 1 0.595877915347943 1 0.999122142791748 experiment 0.808244169304114 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587470 chr1:247587477 synonymous SNV . 0 hm6A_associated_SNPs_3981 4 Benign not specified RCV000245535.1
259 chr1 247587477 247587477 1 + G A rs3806268 247587470 + 247587450 247587490 41 GGCCAGGAAGATGATGTTGGACTGGGCGTCGGGGACACTCT GGCCAGGAAGATGATGTTGGACTGGGCATCGGGGACACTCT < 41bp 1 0.595877915347943 1 0.999122142791748 experiment 0.808244169304114 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587470 chr1:247587477 synonymous SNV . 0 hm6A_associated_SNPs_3981 4 Benign Chronic infantile neurological, cutaneous and articular syndrome RCV000260400.1
260 chr1 247587477 247587477 1 + G A rs3806268 247587470 + 247587450 247587490 41 GGCCAGGAAGATGATGTTGGACTGGGCGTCGGGGACACTCT GGCCAGGAAGATGATGTTGGACTGGGCATCGGGGACACTCT < 41bp 1 0.595877915347943 1 0.999122142791748 experiment 0.808244169304114 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587470 chr1:247587477 synonymous SNV . 0 hm6A_associated_SNPs_3981 4 Benign Familial cold autoinflammatory syndrome RCV000318048.1
261 chr1 247587477 247587477 1 + G A rs3806268 247587470 + 247587450 247587490 41 GGCCAGGAAGATGATGTTGGACTGGGCGTCGGGGACACTCT GGCCAGGAAGATGATGTTGGACTGGGCATCGGGGACACTCT < 41bp 1 0.595877915347943 1 0.999122142791748 experiment 0.808244169304114 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587470 chr1:247587477 synonymous SNV . 0 hm6A_associated_SNPs_3981 4 Benign Familial amyloid nephropathy with urticaria AND deafness RCV000371499.1
262 chr1 247587681 247587681 1 + C T rs143840033 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGATGAGCACATAGGACCGCTCTGCACTGACTGGCA < 41bp 1 0.191314921174985 1 0.998601913452148 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 9 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587681 synonymous SNV . 0 hm6A_associated_SNPs_3982 2 not provided Familial cold urticaria RCV000084249.1
263 chr1 247587681 247587681 1 + C T rs143840033 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGATGAGCACATAGGACCGCTCTGCACTGACTGGCA < 41bp 1 0.191314921174985 1 0.998601913452148 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 9 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587681 synonymous SNV . 0 hm6A_associated_SNPs_3982 2 Likely benign not specified RCV000250475.1
264 chr1 247588671 247588671 1 + C T rs34698071 247588688 + 247588668 247588708 41 CTTCGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA CTTTGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA < 41bp 1 0.482002472039686 1 0.99955427646637 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 4 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588688 chr1:247588671 synonymous SNV . 0 hm6A_associated_SNPs_3983 4 Benign not specified RCV000127223.1
265 chr1 247588671 247588671 1 + C T rs34698071 247588688 + 247588668 247588708 41 CTTCGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA CTTTGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA < 41bp 1 0.482002472039686 1 0.99955427646637 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 4 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588688 chr1:247588671 synonymous SNV . 0 hm6A_associated_SNPs_3983 4 Likely benign Familial amyloid nephropathy with urticaria AND deafness RCV000279144.1
266 chr1 247588671 247588671 1 + C T rs34698071 247588688 + 247588668 247588708 41 CTTCGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA CTTTGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA < 41bp 1 0.482002472039686 1 0.99955427646637 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 4 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588688 chr1:247588671 synonymous SNV . 0 hm6A_associated_SNPs_3983 4 Likely benign Familial cold autoinflammatory syndrome RCV000336634.1
267 chr1 247588671 247588671 1 + C T rs34698071 247588688 + 247588668 247588708 41 CTTCGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA CTTTGTGCAAAGGGCCATGGACTATTTCCCCAAGATTGAGA < 41bp 1 0.482002472039686 1 0.99955427646637 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 4 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588688 chr1:247588671 synonymous SNV . 0 hm6A_associated_SNPs_3983 4 Likely benign Chronic infantile neurological, cutaneous and articular syndrome RCV000404145.1
268 chr2 10194907 10194907 1 + C T rs534714754 10194895 + 10194875 10194915 41 GTTTTATGTAACAGACTTTGACATTATTTAAACGAGCATGT GTTTTATGTAACAGACTTTGACATTATTTAAATGAGCATGT < 41bp 1 0.286857554481853 1 0.640090823173523 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 33 KLF11 ENSG00000271787 ncRNA_exonic Human antisense chr2:10194895 chr2:10194907 . . 0 hm6A_associated_SNPs_4006 1 Uncertain significance Maturity-onset diabetes of the young RCV000392577.1
269 chr2 10194908 10194908 1 + G A rs149368043 10194895 + 10194875 10194915 41 GTTTTATGTAACAGACTTTGACATTATTTAAACGAGCATGT GTTTTATGTAACAGACTTTGACATTATTTAAACAAGCATGT < 41bp 1 0.243209172050903 1 0.717436730861664 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 34 KLF11 ENSG00000271787 ncRNA_exonic Human antisense chr2:10194895 chr2:10194908 . . 0 hm6A_associated_SNPs_4007 1 Uncertain significance Maturity-onset diabetes of the young RCV000303198.1
270 chr2 26501599 26501599 1 + A G rs138696018 26501582 + 26501562 26501602 41 CACTCAAGGAAAATGAGAAAACTGATGCTTGATCTCAATAA CACTCAAGGAAAATGAGAAAACTGATGCTTGATCTCAGTAA < 41bp 1 0.210817253774602 1 0.776594281196594 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 38 HADHB ENSG00000138029 CDS Human protein_coding chr2:26501582 chr2:26501599 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_4105 1 Uncertain significance Mitochondrial trifunctional protein deficiency RCV000263424.1
271 chr2 27309883 27309883 1 + G A rs192615638 27309880 + 27309860 27309900 41 AGGCAACCTGCTACGGGAAGACCGGGGACCAAGACCTCTGG AGGCAACCTGCTACGGGAAGACCAGGGACCAAGACCTCTGG < 41bp 1 0.33776389389551 1 0.759588003158569 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 KHK ENSG00000138030 UTR5 Human protein_coding chr2:27309880 chr2:27309883 . . 0 hm6A_associated_SNPs_4125 1 Uncertain significance Fructosuria, essential RCV000310597.1
272 chr2 27600239 27600239 1 + G A rs13472 27600253 - 27600233 27600273 41 GACCAGGGGACCTTGCCTTGACTGAGGCACTTCACGAGCTC GACCAGGGGACCTTGCCTTGACTGAGGCACTTCATGAGCTC < 41bp 1 0.797721153019622 1 0.959272623062134 experiment 0.404557693960756 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 35 SNX17;ZNF513 ENSG00000163795 UTR3 Human protein_coding chr2:27600253 chr2:27600239 . . 0 hm6A_associated_SNPs_4137 1 Likely benign Retinitis Pigmentosa, Dominant RCV000330540.1
273 chr2 32379616 32379616 1 + A G rs6730121 32379612 + 32379592 32379632 41 CATTTTACTTAAAAGAGGAAACACAAGATCTTCAATGAACG CATTTTACTTAAAAGAGGAAACACGAGATCTTCAATGAACG < 41bp 1 0.717756599109692 1 0.98393726348877 experiment 0.564486801780616 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 25 SPAST ENSG00000021574 UTR3 Human protein_coding chr2:32379612 chr2:32379616 . . 0 hm6A_associated_SNPs_4179 1 Likely benign Spastic Paraplegia, Dominant RCV000315443.1
274 chr2 32379663 32379663 1 + A G rs56272862 32379648 + 32379628 32379668 41 GAACGTCATCGGCTACAGAAACAGCCTAAGTTTACAGGACT GAACGTCATCGGCTACAGAAACAGCCTAAGTTTACGGGACT < 41bp 1 0.700391020634278 1 0.995630502700806 experiment 0.599217958731443 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 36 SPAST ENSG00000021574 UTR3 Human protein_coding chr2:32379648 chr2:32379663 . . 0 hm6A_associated_SNPs_4180 1 Likely benign Spastic Paraplegia, Dominant RCV000369220.1
275 chr2 46524911 46524911 1 + G A rs147597862 46524925 + 46524905 46524945 41 GACTGCGCGGGGCGCTCGGGACCTGCGCGCACCTCGGACCT GACTGCACGGGGCGCTCGGGACCTGCGCGCACCTCGGACCT < 41bp 1 0.650479061227995 1 0.934707283973694 experiment 0.699041877544009 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 EPAS1 ENSG00000116016 UTR5 Human protein_coding chr2:46524925 chr2:46524911 . . 0 hm6A_associated_SNPs_4229 1 Likely benign Familial erythrocytosis RCV000368988.1
276 chr2 46588218 46588218 1 + C T rs374493349 46588226 + 46588206 46588246 41 GAAGTTCACCTACTGTGATGACAGGTAGGGGGCCATGGGTG GAAGTTCACCTATTGTGATGACAGGTAGGGGGCCATGGGTG < 41bp 1 0.157948419485239 1 0.856650114059448 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 13 EPAS1 ENSG00000116016 CDS Human protein_coding chr2:46588226 chr2:46588218 synonymous SNV . 0 hm6A_associated_SNPs_4230 1 Likely benign Familial erythrocytosis RCV000359121.1
277 chr2 46603747 46603747 1 + G A rs61757375 46603755 + 46603735 46603775 41 GCCCCACCTGATGGCCATGAACAGCATCTTTGATAGCAGTG GCCCCACCTGATAGCCATGAACAGCATCTTTGATAGCAGTG < 41bp 1 0.358716256551511 1 0.837141275405884 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 13 EPAS1 ENSG00000116016 CDS Human protein_coding chr2:46603755 chr2:46603747 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_4231 1 Likely benign Familial erythrocytosis RCV000280772.1
278 chr2 46603764 46603764 1 + T A rs150797491 46603755 + 46603735 46603775 41 GCCCCACCTGATGGCCATGAACAGCATCTTTGATAGCAGTG GCCCCACCTGATGGCCATGAACAGCATCTATGATAGCAGTG < 41bp 1 0.35587246220567 1 0.884604930877686 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 30 EPAS1 ENSG00000116016 CDS Human protein_coding chr2:46603755 chr2:46603764 nonsynonymous SNV 0.968 0 hm6A_associated_SNPs_4233 1 Likely benign Familial erythrocytosis RCV000338181.1
279 chr2 46611910 46611910 1 + A G rs62137032 46611914 + 46611894 46611934 41 GCACACTATTTACAAGATGGACTTACCTGGCAGACTTGCCC GCACACTATTTACAAGGTGGACTTACCTGGCAGACTTGCCC < 41bp 1 0.680865297801118 1 0.983217239379883 experiment 0.638269404397764 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 17 EPAS1 ENSG00000116016 UTR3 Human protein_coding chr2:46611914 chr2:46611910 . . 0 hm6A_associated_SNPs_4235 1 Likely benign Familial erythrocytosis RCV000391427.1
280 chr2 46611910 46611910 1 + A G rs62137032 46611927 + 46611907 46611947 41 AAGATGGACTTACCTGGCAGACTTGCCCAGGTCACCAAGCA AAGGTGGACTTACCTGGCAGACTTGCCCAGGTCACCAAGCA < 41bp 1 0.568650569279217 1 0.917029082775116 experiment 0.862698861441566 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 EPAS1 ENSG00000116016 UTR3 Human protein_coding chr2:46611927 chr2:46611910 . . 0 hm6A_associated_SNPs_4236 1 Likely benign Familial erythrocytosis RCV000391427.1
281 chr2 46612652 46612652 1 + G A rs10495933 46612661 + 46612641 46612681 41 AATTTTTCTTAGTGTTGTGGACACTGCAGACTTGTCCAGTG AATTTTTCTTAATGTTGTGGACACTGCAGACTTGTCCAGTG < 41bp 1 0.387252235991643 1 0.947763323783875 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 12 EPAS1 ENSG00000116016 UTR3 Human protein_coding chr2:46612661 chr2:46612652 . . 0 hm6A_associated_SNPs_4238 1 Benign Familial erythrocytosis RCV000296081.1
282 chr2 46613006 46613006 1 + A C rs116816939 46612992 + 46612972 46613012 41 CTTTCACACGGCACATTTGGACATTTCCAGAACTACCATGA CTTTCACACGGCACATTTGGACATTTCCAGAACTCCCATGA < 41bp 1 0.558744133906787 1 0.937322318553925 experiment 0.882511732186426 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 35 EPAS1 ENSG00000116016 UTR3 Human protein_coding chr2:46612992 chr2:46613006 . . 0 hm6A_associated_SNPs_4240 1 Likely benign Familial erythrocytosis RCV000338095.1
283 chr2 47613788 47613788 1 + G A rs77204711 47613796 + 47613776 47613816 41 AGAAGGGAAATAGCAAATGGACACAAATTACAAATGTGTGT AGAAGGGAAATAACAAATGGACACAAATTACAAATGTGTGT < 41bp 1 0.762485705073791 1 0.566363751888275 experiment 0.475028589852418 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 13 EPCAM ENSG00000119888 UTR3 Human protein_coding chr2:47613796 chr2:47613788 . . 0 hm6A_associated_SNPs_4251 1 Likely benign Lynch syndrome RCV000385026.1
284 chr2 47614013 47614013 1 + G C rs189199539 47614018 + 47613998 47614038 41 GTTAAAATTATTTATGTGTAACATTCAAATGTGTGCATTAA GTTAAAATTATTTATCTGTAACATTCAAATGTGTGCATTAA < 41bp 1 0.450322945914396 1 0.0334360003471375 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 16 EPCAM ENSG00000119888 UTR3 Human protein_coding chr2:47614018 chr2:47614013 . . 0 hm6A_associated_SNPs_4252 1 Uncertain significance Lynch syndrome RCV000336722.1
285 chr2 47614017 47614017 1 + A T rs11554292 47614018 + 47613998 47614038 41 GTTAAAATTATTTATGTGTAACATTCAAATGTGTGCATTAA GTTAAAATTATTTATGTGTTACATTCAAATGTGTGCATTAA Direct Loss 1 0.475754894760911 1 0.0410451591014862 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 20 EPCAM ENSG00000119888 UTR3 Human protein_coding chr2:47614018 chr2:47614017 . . 0 hm6A_associated_SNPs_4253 1 Likely benign Lynch syndrome RCV000392221.1
286 chr2 47630258 47630258 1 + G A rs552303079 47630271 + 47630251 47630291 41 CGTGGGAGGGGAGGCGGGAAACAGCTTAGTGGGTGTGGGGT CGTGGGAAGGGAGGCGGGAAACAGCTTAGTGGGTGTGGGGT < 41bp 1 0.285710871591626 1 0.840041995048523 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 8 MSH2 ENSG00000095002 UTR5 Human protein_coding chr2:47630271 chr2:47630258 . . 0 hm6A_associated_SNPs_4254 2 Likely benign Hereditary cancer-predisposing syndrome RCV000129430.4
287 chr2 47630258 47630258 1 + G A rs552303079 47630271 + 47630251 47630291 41 CGTGGGAGGGGAGGCGGGAAACAGCTTAGTGGGTGTGGGGT CGTGGGAAGGGAGGCGGGAAACAGCTTAGTGGGTGTGGGGT < 41bp 1 0.285710871591626 1 0.840041995048523 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 8 MSH2 ENSG00000095002 UTR5 Human protein_coding chr2:47630271 chr2:47630258 . . 0 hm6A_associated_SNPs_4254 2 Uncertain significance Lynch syndrome RCV000364089.1
288 chr2 47637337 47637337 1 + C A rs61756463 47637343 + 47637323 47637363 41 TCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGT TCCGCAGTTGATGGACAGAGACAGGTTGGAGTTGGGTATGT < 41bp 1 0.582410586536181 1 0.541725993156433 experiment 0.835178826927637 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 15 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637343 chr2:47637337 synonymous SNV . 0 hm6A_associated_SNPs_4255 3 Likely benign Lynch syndrome RCV000076604.3
289 chr2 47637337 47637337 1 + C A rs61756463 47637343 + 47637323 47637363 41 TCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGT TCCGCAGTTGATGGACAGAGACAGGTTGGAGTTGGGTATGT < 41bp 1 0.582410586536181 1 0.541725993156433 experiment 0.835178826927637 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 15 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637343 chr2:47637337 synonymous SNV . 0 hm6A_associated_SNPs_4255 3 Likely benign Hereditary cancer-predisposing syndrome RCV000126822.5
290 chr2 47637337 47637337 1 + C A rs61756463 47637343 + 47637323 47637363 41 TCCGCAGTTGATGGCCAGAGACAGGTTGGAGTTGGGTATGT TCCGCAGTTGATGGACAGAGACAGGTTGGAGTTGGGTATGT < 41bp 1 0.582410586536181 1 0.541725993156433 experiment 0.835178826927637 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 15 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637343 chr2:47637337 synonymous SNV . 0 hm6A_associated_SNPs_4255 3 Benign not specified RCV000212586.1
291 chr2 47710229 47710229 1 + T G rs17225053 47710242 + 47710222 47710262 41 AGTAATATTTTACTTTGAGGACATTTTCAAAGATTTTTATT AGTAATAGTTTACTTTGAGGACATTTTCAAAGATTTTTATT < 41bp 1 0.204847385075008 1 0.449997544288635 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 8 MSH2 ENSG00000095002 UTR3 Human protein_coding chr2:47710242 chr2:47710229 . . 0 hm6A_associated_SNPs_4257 1 Likely benign Lynch syndrome RCV000408285.1
292 chr2 48025764 48025764 1 + C A rs1800937 48025768 + 48025748 48025788 41 AGGTAGGCACAACTTACGTAACAGATAAGAGTGAAGAAGAT AGGTAGGCACAACTTAAGTAACAGATAAGAGTGAAGAAGAT < 41bp 1 0.750486717140898 1 0.430144011974335 experiment 0.499026565718204 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 17 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48025768 chr2:48025764 stopgain 0.037 0 hm6A_associated_SNPs_4259 1 Pathogenic Lynch syndrome RCV000075015.2
293 chr2 48028314 48028314 1 + T C rs3136335 48028307 + 48028287 48028327 41 AGTGTTGGGTAAGACTTTGAACAAGCTTGTTCTCAGGCTTT AGTGTTGGGTAAGACTTTGAACAAGCTCGTTCTCAGGCTTT < 41bp 1 0.697803326217976 1 0.242405712604523 experiment 0.604393347564048 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 28 MSH6 ENSG00000116062;ENSG00000138081 intronic Human other chr2:48028307 chr2:48028314 . . 0 hm6A_associated_SNPs_4260 1 Benign not specified RCV000126830.2
294 chr2 58386567 58386567 1 + T C rs147811379 58386581 + 58386561 58386601 41 CAGCTATACACAATTCCCAAACTCATTTTATGAGCCTCATC CAGCTACACACAATTCCCAAACTCATTTTATGAGCCTCATC < 41bp 1 0.781758712982952 1 0.802016496658325 experiment 0.436482574034096 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 7 VRK2 ENSG00000028116 CDS Human protein_coding chr2:58386581 chr2:58386567 synonymous SNV . 0 hm6A_associated_SNPs_4304 1 Uncertain significance Fanconi anemia RCV000379699.1
295 chr2 58386913 58386913 1 + C G rs149803148 58386906 - 58386886 58386926 41 TTAAAAATGTCTGGAAGGAAACACTGAAATAAGAATACAAC TTAAAAATGTCTGCAAGGAAACACTGAAATAAGAATACAAC < 41bp 1 0.796396894420896 1 0.34419310092926 experiment 0.407206211158208 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 FANCL ENSG00000115392 CDS Human protein_coding chr2:58386906 chr2:58386913 nonsynonymous SNV 0.871 0 hm6A_associated_SNPs_4305 2 Likely benign Fanconi anemia RCV000226623.2
296 chr2 58386913 58386913 1 + C G rs149803148 58386906 - 58386886 58386926 41 TTAAAAATGTCTGGAAGGAAACACTGAAATAAGAATACAAC TTAAAAATGTCTGCAAGGAAACACTGAAATAAGAATACAAC < 41bp 1 0.796396894420896 1 0.34419310092926 experiment 0.407206211158208 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 FANCL ENSG00000115392 CDS Human protein_coding chr2:58386906 chr2:58386913 nonsynonymous SNV 0.871 0 hm6A_associated_SNPs_4305 2 Likely benign not specified RCV000500570.1
297 chr2 71163086 71163086 1 + T C rs11681642 71163101 + 71163081 71163121 41 CTCCATGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCC CTCCACGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCC < 41bp 1 0.447671014953663 1 0.891582310199738 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163101 chr2:71163086 nonsynonymous SNV 0.483 3 hm6A_associated_SNPs_4394 2 Benign not specified RCV000037207.2
298 chr2 71163086 71163086 1 + T C rs11681642 71163101 + 71163081 71163121 41 CTCCATGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCC CTCCACGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCC < 41bp 1 0.447671014953663 1 0.891582310199738 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163101 chr2:71163086 nonsynonymous SNV 0.483 3 hm6A_associated_SNPs_4394 2 Benign Renal tubular acidosis with progressive nerve deafness RCV000345623.1
299 chr2 71163111 71163111 1 + T C rs17853498 71163101 + 71163081 71163121 41 CTCCATGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCC CTCCATGGCCATGGAGATAGACAGCAGGCCCGGGGGGCTCC < 41bp 1 0.4548337403758 1 0.876573443412781 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 31 ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163101 chr2:71163111 synonymous SNV . 0 hm6A_associated_SNPs_4395 2 Benign not specified RCV000037206.2
300 chr2 71163111 71163111 1 + T C rs17853498 71163101 + 71163081 71163121 41 CTCCATGGCCATGGAGATAGACAGCAGGCCTGGGGGGCTCC CTCCATGGCCATGGAGATAGACAGCAGGCCCGGGGGGCTCC < 41bp 1 0.4548337403758 1 0.876573443412781 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 31 ATP6V1B1 ENSG00000116039 CDS Human protein_coding chr2:71163101 chr2:71163111 synonymous SNV . 0 hm6A_associated_SNPs_4395 2 Benign Renal tubular acidosis with progressive nerve deafness RCV000404834.1
301 chr2 73675844 73675844 1 + C T rs7598901 73675849 + 73675829 73675869 41 TTACCAACAAGAGTTCGCAGACAGTCATCAAACTGAAGAGA TTACCAACAAGAGTTTGCAGACAGTCATCAAACTGAAGAGA < 41bp 1 0.644469513638724 1 0.999894380569458 experiment 0.711060972722553 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73675849 chr2:73675844 synonymous SNV . 0 hm6A_associated_SNPs_4418 1 Benign not specified RCV000419167.1
302 chr2 73676189 73676189 1 + C G rs77517267 73676202 + 73676182 73676222 41 CAGCTGACGGAAAGACTGGGACACCAGCTGTAACCTCTACT CAGCTGAGGGAAAGACTGGGACACCAGCTGTAACCTCTACT < 41bp 1 0.777922330757758 1 0.999589920043945 experiment 0.444155338484484 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 8 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73676202 chr2:73676189 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_4419 1 Uncertain significance not specified RCV000489305.1
303 chr2 73676312 73676312 1 + A G rs80133984 73676330 + 73676310 73676350 41 AAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG AAGGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG < 41bp 1 0.640269667899196 1 0.999238550662994 experiment 0.719460664201608 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 3 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73676330 chr2:73676312 synonymous SNV . 0 hm6A_associated_SNPs_4420 2 Benign Alstrom syndrome RCV000228750.2
304 chr2 73676312 73676312 1 + A G rs80133984 73676330 + 73676310 73676350 41 AAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG AAGGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG < 41bp 1 0.640269667899196 1 0.999238550662994 experiment 0.719460664201608 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 3 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73676330 chr2:73676312 synonymous SNV . 0 hm6A_associated_SNPs_4420 2 Likely benign not specified RCV000430379.1
305 chr2 73676315 73676315 1 + A G rs76266696 73676330 + 73676310 73676350 41 AAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG AAAGTGTCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG < 41bp 1 0.613062160143524 1 0.999241471290588 experiment 0.773875679712952 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 6 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73676330 chr2:73676315 synonymous SNV . 0 hm6A_associated_SNPs_4421 2 Benign Alstrom syndrome RCV000231591.2
306 chr2 73676315 73676315 1 + A G rs76266696 73676330 + 73676310 73676350 41 AAAGTATCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG AAAGTGTCAATTGTTCCTGGACCAGGTGATCAGAAGACTGG < 41bp 1 0.613062160143524 1 0.999241471290588 experiment 0.773875679712952 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 6 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73676330 chr2:73676315 synonymous SNV . 0 hm6A_associated_SNPs_4421 2 Benign not specified RCV000441805.1
307 chr2 73677898 73677898 1 + G C rs6546837 73677893 + 73677873 73677913 41 AACGTTTCAGCGGTTCCTGGACCAGGTGACCGGAAGACTGG AACGTTTCAGCGGTTCCTGGACCAGCTGACCGGAAGACTGG < 41bp 1 0.306888628414669 1 0.999749779701233 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73677893 chr2:73677898 nonsynonymous SNV 0.006 0 hm6A_associated_SNPs_4422 1 Benign not specified RCV000424327.1
308 chr2 73678616 73678616 1 + G T rs28730853 73678617 + 73678597 73678637 41 CTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACAT CTGGACCAGCTGACCAGAATACTGAGACATTACCAGTACAT Direct Loss 1 0.770983053609582 1 0.998247921466827 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 20 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73678617 chr2:73678616 nonsynonymous SNV 0.031 2 hm6A_associated_SNPs_4423 3 Benign not specified RCV000443791.1
309 chr2 73678616 73678616 1 + G T rs28730853 73678617 + 73678597 73678637 41 CTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACAT CTGGACCAGCTGACCAGAATACTGAGACATTACCAGTACAT Direct Loss 1 0.770983053609582 1 0.998247921466827 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 20 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73678617 chr2:73678616 nonsynonymous SNV 0.031 2 hm6A_associated_SNPs_4423 3 Benign Monogenic diabetes RCV000445426.1
310 chr2 73678616 73678616 1 + G T rs28730853 73678617 + 73678597 73678637 41 CTGGACCAGCTGACCAGAAGACTGAGACATTACCAGTACAT CTGGACCAGCTGACCAGAATACTGAGACATTACCAGTACAT Direct Loss 1 0.770983053609582 1 0.998247921466827 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 20 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73678617 chr2:73678616 nonsynonymous SNV 0.031 2 hm6A_associated_SNPs_4423 3 Benign Alstrom syndrome RCV000466778.1
311 chr2 73678642 73678642 1 + C T rs188807564 73678623 + 73678603 73678643 41 CAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACT CAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTATT < 41bp 1 0.77740796489304 1 0.998710870742798 experiment 0.445184070213921 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73678623 chr2:73678642 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_4424 3 Likely benign Alstrom syndrome RCV000227881.1
312 chr2 73678642 73678642 1 + C T rs188807564 73678623 + 73678603 73678643 41 CAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACT CAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTATT < 41bp 1 0.77740796489304 1 0.998710870742798 experiment 0.445184070213921 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73678623 chr2:73678642 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_4424 3 Likely benign not specified RCV000433447.2
313 chr2 73678642 73678642 1 + C T rs188807564 73678623 + 73678603 73678643 41 CAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTACT CAGCTGACCAGAAGACTGAGACATTACCAGTACATTCTATT < 41bp 1 0.77740796489304 1 0.998710870742798 experiment 0.445184070213921 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73678623 chr2:73678642 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_4424 3 Uncertain significance Monogenic diabetes RCV000445498.1
314 chr2 73679440 73679440 1 + G A rs17009061 73679437 + 73679417 73679457 41 TGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAA TGTTGTTCCTGGACAAGGTGACCAGAAGACTGAGATACCAA < 41bp 1 0.328479954244455 1 0.98879075050354 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 24 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73679437 chr2:73679440 nonsynonymous SNV 0.075 0 hm6A_associated_SNPs_4425 3 Benign not specified RCV000421321.1
315 chr2 73679440 73679440 1 + G A rs17009061 73679437 + 73679417 73679457 41 TGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAA TGTTGTTCCTGGACAAGGTGACCAGAAGACTGAGATACCAA < 41bp 1 0.328479954244455 1 0.98879075050354 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 24 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73679437 chr2:73679440 nonsynonymous SNV 0.075 0 hm6A_associated_SNPs_4425 3 Benign Monogenic diabetes RCV000445423.1
316 chr2 73679440 73679440 1 + G A rs17009061 73679437 + 73679417 73679457 41 TGTTGTTCCTGGACAAGGTGACCGGAAGACTGAGATACCAA TGTTGTTCCTGGACAAGGTGACCAGAAGACTGAGATACCAA < 41bp 1 0.328479954244455 1 0.98879075050354 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 24 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73679437 chr2:73679440 nonsynonymous SNV 0.075 0 hm6A_associated_SNPs_4425 3 Benign Alstrom syndrome RCV000461732.1
317 chr2 73679661 73679661 1 + A G rs7587103 73679679 + 73679659 73679699 41 ATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACC ATGTACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACC < 41bp 1 0.699669213516667 1 0.987907230854034 experiment 0.600661572966665 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73679679 chr2:73679661 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_4426 3 Benign Alstrom syndrome RCV000204263.2
318 chr2 73679661 73679661 1 + A G rs7587103 73679679 + 73679659 73679699 41 ATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACC ATGTACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACC < 41bp 1 0.699669213516667 1 0.987907230854034 experiment 0.600661572966665 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73679679 chr2:73679661 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_4426 3 Likely benign not provided RCV000224015.1
319 chr2 73679661 73679661 1 + A G rs7587103 73679679 + 73679659 73679699 41 ATATACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACC ATGTACCAGATGACCAGAAAACTGAGTTTCCAGCAGCTACC < 41bp 1 0.699669213516667 1 0.987907230854034 experiment 0.600661572966665 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73679679 chr2:73679661 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_4426 3 Likely benign not specified RCV000419177.1
320 chr2 73680207 73680207 1 + C T rs77555300 73680201 + 73680181 73680221 41 ATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTAC ATCAAATTACCGGATTACAAACAGTTTCCTCTGGTACTTAC < 41bp 1 0.767422974470449 1 0.973285794258118 experiment 0.465154051059101 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 27 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73680201 chr2:73680207 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_4427 3 Benign Alstrom syndrome RCV000226842.2
321 chr2 73680207 73680207 1 + C T rs77555300 73680201 + 73680181 73680221 41 ATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTAC ATCAAATTACCGGATTACAAACAGTTTCCTCTGGTACTTAC < 41bp 1 0.767422974470449 1 0.973285794258118 experiment 0.465154051059101 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 27 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73680201 chr2:73680207 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_4427 3 Benign not specified RCV000429253.1
322 chr2 73680207 73680207 1 + C T rs77555300 73680201 + 73680181 73680221 41 ATCAAATTACCGGATTACAAACAGTTCCCTCTGGTACTTAC ATCAAATTACCGGATTACAAACAGTTTCCTCTGGTACTTAC < 41bp 1 0.767422974470449 1 0.973285794258118 experiment 0.465154051059101 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 27 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73680201 chr2:73680207 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_4427 3 Likely benign Monogenic diabetes RCV000445433.1
323 chr2 73717897 73717897 1 + T C rs541559170 73717879 + 73717859 73717899 41 GAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATATGT GAACAACGAGAACTCTTTGAACAGTGCAAAGCCCCATACGT < 41bp 1 0.746774022111647 1 0.954646110534668 experiment 0.506451955776706 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 39 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73717879 chr2:73717897 synonymous SNV . 0 hm6A_associated_SNPs_4429 1 Likely benign Alstrom syndrome RCV000463432.1
324 chr2 73799632 73799632 1 + C G rs45501594 73799622 + 73799602 73799642 41 AAAACATGGACAAGACTAAGACAGATTATACCAGAATAAAG AAAACATGGACAAGACTAAGACAGATTATAGCAGAATAAAG < 41bp 1 0.774311802926574 1 0.953289151191711 experiment 0.451376394146852 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 31 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73799622 chr2:73799632 nonsynonymous SNV 0.996 0 hm6A_associated_SNPs_4430 4 Benign Alstrom syndrome RCV000204989.3
325 chr2 73799632 73799632 1 + C G rs45501594 73799622 + 73799602 73799642 41 AAAACATGGACAAGACTAAGACAGATTATACCAGAATAAAG AAAACATGGACAAGACTAAGACAGATTATAGCAGAATAAAG < 41bp 1 0.774311802926574 1 0.953289151191711 experiment 0.451376394146852 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 31 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73799622 chr2:73799632 nonsynonymous SNV 0.996 0 hm6A_associated_SNPs_4430 4 Likely benign not provided RCV000224685.1
326 chr2 73799632 73799632 1 + C G rs45501594 73799622 + 73799602 73799642 41 AAAACATGGACAAGACTAAGACAGATTATACCAGAATAAAG AAAACATGGACAAGACTAAGACAGATTATAGCAGAATAAAG < 41bp 1 0.774311802926574 1 0.953289151191711 experiment 0.451376394146852 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 31 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73799622 chr2:73799632 nonsynonymous SNV 0.996 0 hm6A_associated_SNPs_4430 4 Likely benign not specified RCV000434829.1
327 chr2 73799632 73799632 1 + C G rs45501594 73799622 + 73799602 73799642 41 AAAACATGGACAAGACTAAGACAGATTATACCAGAATAAAG AAAACATGGACAAGACTAAGACAGATTATAGCAGAATAAAG < 41bp 1 0.774311802926574 1 0.953289151191711 experiment 0.451376394146852 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 31 ALMS1 ENSG00000116127 CDS Human protein_coding chr2:73799622 chr2:73799632 nonsynonymous SNV 0.996 0 hm6A_associated_SNPs_4430 4 Likely benign Monogenic diabetes RCV000445553.1
328 chr2 74185876 74185876 1 + A T rs4777 74185863 + 74185843 74185883 41 ACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGG ACCTTTGTAAAGAATCTGTAACCAATACCATGATGTTCAGG < 41bp 1 0.110712056906027 1 0.000310420989990234 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 DGUOK-AS1 ENSG00000237883 ncRNA_intronic Human antisense chr2:74185863 chr2:74185876 . . 0 hm6A_associated_SNPs_4433 2 Benign not specified RCV000124678.3
329 chr2 74185876 74185876 1 + A T rs4777 74185863 + 74185843 74185883 41 ACCTTTGTAAAGAATCTGTAACCAATACCATGAAGTTCAGG ACCTTTGTAAAGAATCTGTAACCAATACCATGATGTTCAGG < 41bp 1 0.110712056906027 1 0.000310420989990234 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 DGUOK-AS1 ENSG00000237883 ncRNA_intronic Human antisense chr2:74185863 chr2:74185876 . . 0 hm6A_associated_SNPs_4433 2 Benign Mitochondrial DNA depletion syndrome RCV000351874.1
330 chr2 74760206 74760206 1 + C T rs79220020 74760189 + 74760169 74760209 41 GAGGTTCTGAGGGCACCGAGACAGAGGGTTAAATGAACCAG GAGGTTCTGAGGGCACCGAGACAGAGGGTTAAATGAATCAG < 41bp 1 0.784726568636767 1 0.542573511600494 experiment 0.430546862726465 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 38 HTRA2;LOXL3 ENSG00000115317;ENSG00000115318 UTR3 Human other chr2:74760189 chr2:74760206 . . 0 hm6A_associated_SNPs_4442 1 Likely benign Parkinson Disease, Dominant RCV000382529.1
331 chr2 74760206 74760206 1 + C T rs79220020 74760205 + 74760185 74760225 41 CGAGACAGAGGGTTAAATGAACCAGTGGGGGCAGGTCCCTC CGAGACAGAGGGTTAAATGAATCAGTGGGGGCAGGTCCCTC Direct Loss 1 0.533675271473454 1 0.475785166025162 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 22 HTRA2;LOXL3 ENSG00000115317;ENSG00000115318 UTR3 Human other chr2:74760205 chr2:74760206 . . 0 hm6A_associated_SNPs_4443 1 Likely benign Parkinson Disease, Dominant RCV000382529.1
332 chr2 85769711 85769711 1 + C G rs1078004 85769725 + 85769705 85769745 41 TGGACGCAAAATCATTGTGGACACTTATGGCGGTTGGGGTG TGGACGGAAAATCATTGTGGACACTTATGGCGGTTGGGGTG < 41bp 1 0.715141084967811 1 0.955495536327362 experiment 0.569717830064378 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 7 MAT2A ENSG00000168906 CDS Human protein_coding chr2:85769725 chr2:85769711 synonymous SNV . 0 hm6A_associated_SNPs_4460 1 Benign not specified RCV000418849.1
333 chr2 85772331 85772331 1 + T G rs377381751 85772343 - 85772323 85772363 41 CTGTTGGAATTGAGAACCAGACATACGTAATAAACCTCCAA CTGTTGGAATTGAGAACCAGACATACGTAATACACCTCCAA < 41bp 1 0.34507276626024 1 0.631449639797211 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 33 GGCX;MAT2A ENSG00000115486;ENSG00000168906 UTR3 Human other chr2:85772343 chr2:85772331 . . 0 hm6A_associated_SNPs_4462 1 Uncertain significance Vitamin K-Dependent Clotting Factors RCV000278791.1
334 chr2 89050126 89050126 1 + T G rs6974 89050133 + 89050113 89050153 41 CTTAAGATCAGGTTTATAAAACTGTGGAGTGGAGCGGTATG CTTAAGATCAGGTGTATAAAACTGTGGAGTGGAGCGGTATG < 41bp 1 0.304824911692725 1 0.75204074382782 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 14 RPIA ENSG00000153574 UTR3 Human protein_coding chr2:89050133 chr2:89050126 . . 0 hm6A_associated_SNPs_4498 1 Benign Deficiency of ribose-5-phosphate isomerase RCV000337372.1
335 chr2 97475345 97475345 1 + C T rs7581456 97475364 + 97475344 97475384 41 ACGGATAGATAGCCTGTCTGACTGAACAGCCAGATGGCCCC ATGGATAGATAGCCTGTCTGACTGAACAGCCAGATGGCCCC < 41bp 1 0.69215234568141 1 0.946323394775391 experiment 0.61569530863718 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 CNNM4 ENSG00000158158 UTR3 Human protein_coding chr2:97475364 chr2:97475345 . . 0 hm6A_associated_SNPs_4520 1 Benign Cone-rod dystrophy amelogenesis imperfecta RCV000406339.1
336 chr2 97475349 97475349 1 + T C rs138947618 97475364 + 97475344 97475384 41 ACGGATAGATAGCCTGTCTGACTGAACAGCCAGATGGCCCC ACGGACAGATAGCCTGTCTGACTGAACAGCCAGATGGCCCC < 41bp 1 0.714831587570014 1 0.973832726478577 experiment 0.570336824859971 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 CNNM4 ENSG00000158158 UTR3 Human protein_coding chr2:97475364 chr2:97475349 . . 0 hm6A_associated_SNPs_4521 1 Uncertain significance Cone-rod dystrophy amelogenesis imperfecta RCV000312310.1
337 chr2 109356978 109356978 1 + G C rs76352345 109356993 + 109356973 109357013 41 TCTTTGGGTGGAAATGATGAACTGTCAGCTACTTTCTTAGA TCTTTCGGTGGAAATGATGAACTGTCAGCTACTTTCTTAGA < 41bp 1 0.361397747601449 1 0.918060421943665 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 6 RANBP2 ENSG00000153201 CDS Human protein_coding chr2:109356993 chr2:109356978 nonsynonymous SNV 0.887 0 hm6A_associated_SNPs_4575 1 Benign not specified RCV000417963.1
338 chr2 109365521 109365521 1 + C T rs140275032 109365535 + 109365515 109365555 41 TGGTAGCGATGATATTGGAAACATTGATGTACGAGAACCAG TGGTAGTGATGATATTGGAAACATTGATGTACGAGAACCAG < 41bp 1 0.757520026688651 1 0.687250733375549 experiment 0.484959946622698 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 RANBP2 ENSG00000153201 CDS Human protein_coding chr2:109365535 chr2:109365521 synonymous SNV . 0 hm6A_associated_SNPs_4576 1 Likely benign not specified RCV000427926.1
339 chr2 109374904 109374904 1 + C G rs144573168 109374903 + 109374883 109374923 41 GTTGAAACTAAATAGCAGTAACTCAGCATCCCCTCATCGTT GTTGAAACTAAATAGCAGTAAGTCAGCATCCCCTCATCGTT Direct Loss 1 0.223672864163424 1 0.286970317363739 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 22 RANBP2 ENSG00000153201 CDS Human protein_coding chr2:109374903 chr2:109374904 nonsynonymous SNV 0.997 0 hm6A_associated_SNPs_4577 1 Uncertain significance not specified RCV000498608.1
340 chr2 112786292 112786292 1 + G A rs148261231 112786302 + 112786282 112786322 41 TGCAGTCACAGCTGAAAAGAACAGTGTTTTACCGGGGGAGA TGCAGTCACAACTGAAAAGAACAGTGTTTTACCGGGGGAGA < 41bp 1 0.781954405889029 1 0.980510473251343 experiment 0.436091188221942 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 MERTK ENSG00000153208 CDS Human protein_coding chr2:112786302 chr2:112786292 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_4586 1 Benign not specified RCV000081388.4
341 chr2 113890586 113890586 1 + C G rs315951 113890601 + 113890581 113890621 41 CACAACAACCTGGTCACAGGACTCTGCCTCCTCTTCAACTG CACAAGAACCTGGTCACAGGACTCTGCCTCCTCTTCAACTG < 41bp 1 0.0665268838026718 1 0.996944069862366 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 6 IL1RN ENSG00000136689 UTR3 Human protein_coding chr2:113890601 chr2:113890586 . . 0 hm6A_associated_SNPs_4615 1 Benign Osteomyelitis, sterile multifocal, with periostitis and pustulosis RCV000279064.1
342 chr2 113890610 113890610 1 + C T rs4252041 113890601 + 113890581 113890621 41 CACAACAACCTGGTCACAGGACTCTGCCTCCTCTTCAACTG CACAACAACCTGGTCACAGGACTCTGCCTTCTCTTCAACTG < 41bp 1 0.0661400261848424 1 0.995567560195923 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 30 IL1RN ENSG00000136689 UTR3 Human protein_coding chr2:113890601 chr2:113890610 . . 0 hm6A_associated_SNPs_4616 1 Likely benign Osteomyelitis, sterile multifocal, with periostitis and pustulosis RCV000343482.1
343 chr2 135920394 135920394 1 + C T rs61748693 135920408 + 135920388 135920428 41 GCACTTCCCCAATCCAGAAGACAAGAAATTGGAAGTAAGTT GCACTTTCCCAATCCAGAAGACAAGAAATTGGAAGTAAGTT < 41bp 1 0.652824516354765 1 0.702489495277405 experiment 0.69435096729047 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 RAB3GAP1 ENSG00000115839 CDS Human protein_coding chr2:135920408 chr2:135920394 synonymous SNV . 0 hm6A_associated_SNPs_4724 2 Benign not specified RCV000118095.4
344 chr2 135920394 135920394 1 + C T rs61748693 135920408 + 135920388 135920428 41 GCACTTCCCCAATCCAGAAGACAAGAAATTGGAAGTAAGTT GCACTTTCCCAATCCAGAAGACAAGAAATTGGAAGTAAGTT < 41bp 1 0.652824516354765 1 0.702489495277405 experiment 0.69435096729047 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 RAB3GAP1 ENSG00000115839 CDS Human protein_coding chr2:135920408 chr2:135920394 synonymous SNV . 0 hm6A_associated_SNPs_4724 2 Uncertain significance Warburg micro syndrome RCV000317205.1
345 chr2 135926755 135926755 1 + C T rs149483456 135926766 + 135926746 135926786 41 GCAAGTGTGCAAAATAAAGGACCTGTTAACTCAGATTTCTG GCAAGTGTGTAAAATAAAGGACCTGTTAACTCAGATTTCTG < 41bp 1 0.670818584893796 1 0.882190108299255 experiment 0.658362830212409 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 10 RAB3GAP1 ENSG00000115839 UTR3 Human protein_coding chr2:135926766 chr2:135926755 . . 0 hm6A_associated_SNPs_4725 1 Uncertain significance Warburg micro syndrome RCV000340454.1
346 chr2 135927346 135927346 1 + T C rs116237324 135927348 + 135927328 135927368 41 AGCCCCCCCGTGTGAGGATGACATCACCACATTTCTAGTTT AGCCCCCCCGTGTGAGGACGACATCACCACATTTCTAGTTT Direct Loss 1 0.410011168148456 1 0.0518762767314911 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 19 RAB3GAP1 ENSG00000115839 UTR3 Human protein_coding chr2:135927348 chr2:135927346 . . 0 hm6A_associated_SNPs_4727 1 Likely benign Warburg micro syndrome RCV000355814.1
347 chr2 172325498 172325498 1 + G A rs61731491 172325495 + 172325475 172325515 41 GTCACACCTAATAAGAAGAAACAGAAAGGAGTTTTCCATAT GTCACACCTAATAAGAAGAAACAAAAAGGAGTTTTCCATAT < 41bp 1 0.581175669692397 1 0.278368592262268 experiment 0.837648660615205 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 DCAF17 ENSG00000115827 CDS Human protein_coding chr2:172325495 chr2:172325498 synonymous SNV . 0 hm6A_associated_SNPs_4821 2 Benign not specified RCV000116871.1
348 chr2 172325498 172325498 1 + G A rs61731491 172325495 + 172325475 172325515 41 GTCACACCTAATAAGAAGAAACAGAAAGGAGTTTTCCATAT GTCACACCTAATAAGAAGAAACAAAAAGGAGTTTTCCATAT < 41bp 1 0.581175669692397 1 0.278368592262268 experiment 0.837648660615205 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 DCAF17 ENSG00000115827 CDS Human protein_coding chr2:172325495 chr2:172325498 synonymous SNV . 0 hm6A_associated_SNPs_4821 2 Likely benign Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities RCV000356609.1
349 chr2 172337639 172337639 1 + T C rs146258833 172337653 + 172337633 172337673 41 AGATAATTGTAACCTAAGAGACTTTTAGCCAAACACCCCAG AGATAACTGTAACCTAAGAGACTTTTAGCCAAACACCCCAG < 41bp 1 0.791520535885435 1 0.843243002891541 experiment 0.41695892822913 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 DCAF17 ENSG00000115827 UTR3 Human protein_coding chr2:172337653 chr2:172337639 . . 0 hm6A_associated_SNPs_4822 1 Uncertain significance Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities RCV000328243.1
350 chr2 173355958 173355958 1 + G A rs10209072 173355968 + 173355948 173355988 41 GAACTGTAGCGTGAACGTGAACTGTGTGAACATCAGATGCC GAACTGTAGCATGAACGTGAACTGTGTGAACATCAGATGCC < 41bp 1 0.158951012269153 1 0.962925553321838 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 11 ITGA6 ENSG00000091409 CDS Human protein_coding chr2:173355968 chr2:173355958 nonsynonymous SNV 0.205 0 hm6A_associated_SNPs_4838 1 Likely benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000387501.1
351 chr2 173369231 173369231 1 + A G rs17664 173369213 + 173369193 173369233 41 TCTTTAACTGCCGTAATTTAACTTTCTGGGTTGCCTTTATT TCTTTAACTGCCGTAATTTAACTTTCTGGGTTGCCTTTGTT < 41bp 1 0.709591476730006 1 0.742312550544739 experiment 0.580817046539987 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 39 ITGA6 ENSG00000225205 ncRNA_intronic Human antisense chr2:173369213 chr2:173369231 . . 0 hm6A_associated_SNPs_4841 1 Benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000331172.1
352 chr2 173369231 173369231 1 + A G rs17664 173369247 + 173369227 173369267 41 CTTTATTTTTGGCGTGGCTGACTTACATCATGTGTTGGGGA CTTTGTTTTTGGCGTGGCTGACTTACATCATGTGTTGGGGA < 41bp 1 0.620174410398197 1 0.579888522624969 experiment 0.759651179203606 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 5 ITGA6 ENSG00000225205 ncRNA_intronic Human antisense chr2:173369247 chr2:173369231 . . 0 hm6A_associated_SNPs_4842 1 Benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000331172.1
353 chr2 173369990 173369990 1 + A G rs16860635 173370008 + 173369988 173370028 41 AAAATGGGTTTATTCACTGAACTCTAGTGCGGTTTACTCAC AAGATGGGTTTATTCACTGAACTCTAGTGCGGTTTACTCAC < 41bp 1 0.268842271755226 1 0.92933589220047 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 3 ITGA6 ENSG00000225205 ncRNA_intronic Human antisense chr2:173370008 chr2:173369990 . . 0 hm6A_associated_SNPs_4844 1 Likely benign Epidermolysis bullosa junctionalis with pyloric atresia RCV000310985.1
354 chr2 176957650 176957650 1 + G C rs536639583 176957641 + 176957621 176957661 41 GAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAG GAGCCGCGCCGGGAGCTGGGACATGGACGCGCTGCGGGCAG < 41bp 1 0.652767014885413 1 0.861002802848816 experiment 0.694465970229174 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 30 HOXD13 ENSG00000128714 CDS Human protein_coding chr2:176957641 chr2:176957650 nonsynonymous SNV 0.980 1 hm6A_associated_SNPs_4862 2 Pathogenic Synpolydactyly 1 RCV000210944.2
355 chr2 176957650 176957650 1 + G C rs536639583 176957641 + 176957621 176957661 41 GAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAG GAGCCGCGCCGGGAGCTGGGACATGGACGCGCTGCGGGCAG < 41bp 1 0.652767014885413 1 0.861002802848816 experiment 0.694465970229174 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 30 HOXD13 ENSG00000128714 CDS Human protein_coding chr2:176957641 chr2:176957650 nonsynonymous SNV 0.980 1 hm6A_associated_SNPs_4862 2 Uncertain significance not specified RCV000489398.1
356 chr2 176957659 176957659 1 + C T rs555136684 176957641 + 176957621 176957661 41 GAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGCAG GAGCCGCGCCGGGAGCTGGGACATGGACGGGCTGCGGGTAG < 41bp 1 0.636681131894084 1 0.855322182178497 experiment 0.726637736211832 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 39 HOXD13 ENSG00000128714 CDS Human protein_coding chr2:176957641 chr2:176957659 nonsynonymous SNV 0.722 2 hm6A_associated_SNPs_4863 1 other not specified RCV000290295.2
357 chr2 176983923 176983923 1 + G C rs33913965 176983936 + 176983916 176983956 41 AGAACCGGATCCGAGAACTGACCGCCAACCTCACGTTTTCT AGAACCGCATCCGAGAACTGACCGCCAACCTCACGTTTTCT < 41bp 1 0.575354742682476 1 0.960709273815155 experiment 0.849290514635047 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 8 HOXD10 ENSG00000128710 CDS Human protein_coding chr2:176983936 chr2:176983923 synonymous SNV . 0 hm6A_associated_SNPs_4868 1 Likely benign Vertical talus, congenital RCV000287268.1
358 chr2 176983934 176983934 1 + T C rs144160937 176983932 + 176983912 176983952 41 CGAGAGAACCGGATCCGAGAACTGACCGCCAACCTCACGTT CGAGAGAACCGGATCCGAGAACCGACCGCCAACCTCACGTT < 41bp 1 0.702982723429004 1 0.956184267997742 experiment 0.594034553141992 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 HOXD10 ENSG00000128710 CDS Human protein_coding chr2:176983932 chr2:176983934 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_4869 1 Likely benign Vertical talus, congenital RCV000342309.1
359 chr2 176983934 176983934 1 + T C rs144160937 176983936 + 176983916 176983956 41 AGAACCGGATCCGAGAACTGACCGCCAACCTCACGTTTTCT AGAACCGGATCCGAGAACCGACCGCCAACCTCACGTTTTCT Direct Loss 1 0.642170181079504 1 0.948765516281128 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 19 HOXD10 ENSG00000128710 CDS Human protein_coding chr2:176983936 chr2:176983934 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_4870 1 Likely benign Vertical talus, congenital RCV000342309.1
360 chr2 178403788 178403788 1 + A G rs2293470 178403797 + 178403777 178403817 41 ACAGCAAGAGCAGAAGGAAAACTCTTAGACTTAATGTCTCC ACAGCAAGAGCGGAAGGAAAACTCTTAGACTTAATGTCTCC < 41bp 1 0.206026031038591 1 0.969602823257446 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 12 AGPS ENSG00000018510 UTR3 Human protein_coding chr2:178403797 chr2:178403788 . . 0 hm6A_associated_SNPs_4891 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000334045.1
361 chr2 178406185 178406185 1 + C A rs115216884 178406165 + 178406145 178406185 41 ATGGGGCTGGGTTTGGTTGAACTTCCATTCTGTATAAATGC ATGGGGCTGGGTTTGGTTGAACTTCCATTCTGTATAAATGA < 41bp 1 0.0447279190800182 1 0.203089654445648 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 41 AGPS ENSG00000018510 UTR3 Human protein_coding chr2:178406165 chr2:178406185 . . 0 hm6A_associated_SNPs_4892 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000386504.1
362 chr2 178406304 178406304 1 + G A rs190466352 178406293 + 178406273 178406313 41 ATATCTTAAAAAACACTCAGACAGGAGTTAAGGACAGCTTT ATATCTTAAAAAACACTCAGACAGGAGTTAAAGACAGCTTT < 41bp 1 0.131362258322247 1 0.315859854221344 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 32 AGPS ENSG00000018510 UTR3 Human protein_coding chr2:178406293 chr2:178406304 . . 0 hm6A_associated_SNPs_4893 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000289682.1
363 chr2 178406304 178406304 1 + G A rs190466352 178406306 + 178406286 178406326 41 CACTCAGACAGGAGTTAAGGACAGCTTTAATAATTTTTTTG CACTCAGACAGGAGTTAAAGACAGCTTTAATAATTTTTTTG < 41bp 1 0.172767901969166 1 0.106629133224487 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 19 AGPS ENSG00000018510 UTR3 Human protein_coding chr2:178406306 chr2:178406304 . . 0 hm6A_associated_SNPs_4894 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000289682.1
364 chr2 178408047 178408047 1 + C T rs145417594 178408065 + 178408045 178408085 41 AACGAATATTTCTGTTCTGGACAATGATTAAATCTTATGAG AATGAATATTTCTGTTCTGGACAATGATTAAATCTTATGAG < 41bp 1 0.47506376925235 1 0.634132027626038 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 3 AGPS ENSG00000018510 UTR3 Human protein_coding chr2:178408065 chr2:178408047 . . 0 hm6A_associated_SNPs_4895 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000374893.1
365 chr2 178408082 178408082 1 + T C rs536424736 178408065 + 178408045 178408085 41 AACGAATATTTCTGTTCTGGACAATGATTAAATCTTATGAG AACGAATATTTCTGTTCTGGACAATGATTAAATCTTACGAG < 41bp 1 0.475309937716732 1 0.795235812664032 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 38 AGPS ENSG00000018510 UTR3 Human protein_coding chr2:178408065 chr2:178408082 . . 0 hm6A_associated_SNPs_4896 1 Uncertain significance Rhizomelic chondrodysplasia punctata RCV000335930.1
366 chr2 179403525 179403525 1 + A T rs78814506 179403512 + 179403492 179403532 41 GTTTCTCCCACTGTAGAGTGACACTATCTTTGGATATTGAA GTTTCTCCCACTGTAGAGTGACACTATCTTTGGTTATTGAA < 41bp 1 0.699635602191901 1 0.0641863942146301 experiment 0.600728795616197 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 TTN ENSG00000155657 CDS Human protein_coding chr2:179403512 chr2:179403525 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_4899 4 Benign not specified RCV000040880.4
367 chr2 179403525 179403525 1 + A T rs78814506 179403512 + 179403492 179403532 41 GTTTCTCCCACTGTAGAGTGACACTATCTTTGGATATTGAA GTTTCTCCCACTGTAGAGTGACACTATCTTTGGTTATTGAA < 41bp 1 0.699635602191901 1 0.0641863942146301 experiment 0.600728795616197 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 TTN ENSG00000155657 CDS Human protein_coding chr2:179403512 chr2:179403525 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_4899 4 Benign Dilated cardiomyopathy 1G RCV000226010.2
368 chr2 179403525 179403525 1 + A T rs78814506 179403512 + 179403492 179403532 41 GTTTCTCCCACTGTAGAGTGACACTATCTTTGGATATTGAA GTTTCTCCCACTGTAGAGTGACACTATCTTTGGTTATTGAA < 41bp 1 0.699635602191901 1 0.0641863942146301 experiment 0.600728795616197 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 TTN ENSG00000155657 CDS Human protein_coding chr2:179403512 chr2:179403525 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_4899 4 Benign Limb-girdle muscular dystrophy, type 2J RCV000226010.2
369 chr2 179403525 179403525 1 + A T rs78814506 179403512 + 179403492 179403532 41 GTTTCTCCCACTGTAGAGTGACACTATCTTTGGATATTGAA GTTTCTCCCACTGTAGAGTGACACTATCTTTGGTTATTGAA < 41bp 1 0.699635602191901 1 0.0641863942146301 experiment 0.600728795616197 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 TTN ENSG00000155657 CDS Human protein_coding chr2:179403512 chr2:179403525 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_4899 4 Likely benign Cardiovascular phenotype RCV000246674.1
370 chr2 190718999 190718999 1 + C T rs147084726 190719012 + 190718992 190719032 41 CTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTC CTGATGATGACTTGTTATGGACCATTACCTAGTACAAATTC < 41bp 1 0.63723724079558 1 0.93906581401825 experiment 0.72552551840884 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 8 PMS1 ENSG00000064933 CDS Human protein_coding chr2:190719012 chr2:190718999 nonsynonymous SNV 0.991 0 hm6A_associated_SNPs_4945 2 not provided not specified RCV000121825.1
371 chr2 190718999 190718999 1 + C T rs147084726 190719012 + 190718992 190719032 41 CTGATGACGACTTGTTATGGACCATTACCTAGTACAAATTC CTGATGATGACTTGTTATGGACCATTACCTAGTACAAATTC < 41bp 1 0.63723724079558 1 0.93906581401825 experiment 0.72552551840884 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 8 PMS1 ENSG00000064933 CDS Human protein_coding chr2:190719012 chr2:190718999 nonsynonymous SNV 0.991 0 hm6A_associated_SNPs_4945 2 Uncertain significance Lynch syndrome RCV000313907.1
372 chr2 198571890 198571890 1 + G T rs149323484 198571871 + 198571851 198571891 41 GCTTTTGTTTCCAAGACTAGACCAGTCCAGGACTTGGCTGG GCTTTTGTTTCCAAGACTAGACCAGTCCAGGACTTGGCTTG < 41bp 1 0.781725282709549 1 0.880268275737762 experiment 0.436549434580902 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 40 MARS2 ENSG00000247626 CDS Human protein_coding chr2:198571871 chr2:198571890 synonymous SNV . 0 hm6A_associated_SNPs_4974 1 Likely benign not specified RCV000422730.1
373 chr2 203424775 203424775 1 + C T rs45502895 203424795 + 203424775 203424815 41 CTCCCACCCCTGCAACAAAGACTTGCTTTAAATAGATTTCA TTCCCACCCCTGCAACAAAGACTTGCTTTAAATAGATTTCA < 41bp 1 0.505320003843742 1 0.967749297618866 experiment 0.989359992312517 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 BMPR2 ENSG00000204217 UTR3 Human protein_coding chr2:203424795 chr2:203424775 . . 0 hm6A_associated_SNPs_5019 1 Likely benign Primary pulmonary hypertension RCV000400416.1
374 chr2 207631493 207631493 1 + T C rs536180346 207631497 + 207631477 207631517 41 AGCGGGCTCCTTTTTCTGGAACCTTAGACAATTCAGTACAT AGCGGGCTCCTTTTTCCGGAACCTTAGACAATTCAGTACAT < 41bp 1 0.504438982615094 1 0.960169076919556 experiment 0.991122034769812 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207631497 chr2:207631493 nonsynonymous SNV 0.795 1 hm6A_associated_SNPs_5048 1 Uncertain significance not provided RCV000415753.1
375 chr2 207631609 207631609 1 + T C rs150457139 207631605 + 207631585 207631625 41 AAACTGGAACATTTTAAATAACTTTCATAACAGAATGCAAT AAACTGGAACATTTTAAATAACTTCCATAACAGAATGCAAT < 41bp 1 0.635212510675401 1 0.956488966941833 experiment 0.729574978649198 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207631605 chr2:207631609 synonymous SNV . 0 hm6A_associated_SNPs_5049 1 Benign not specified RCV000439508.1
376 chr2 207639047 207639047 1 + A G rs369427864 207639049 + 207639029 207639069 41 AGAGGATCCTGAATCCCTAAACATGAAAAACATTCTATCTA AGAGGATCCTGAATCCCTGAACATGAAAAACATTCTATCTA < 41bp 1 0.634724311008196 1 0.317748963832855 experiment 0.730551377983609 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 19 FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207639049 chr2:207639047 synonymous SNV . 0 hm6A_associated_SNPs_5050 1 Likely benign not specified RCV000357705.2
377 chr2 207656584 207656584 1 + G A rs183337182 207656585 + 207656565 207656605 41 TGTAAAAATTAATAAAGATGACAAGTCAGTTGTCAATGGAA TGTAAAAATTAATAAAGATAACAAGTCAGTTGTCAATGGAA < 41bp 1 0.530518538116152 1 0.43791738152504 experiment 0.938962923767697 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 20 FASTKD2 ENSG00000118246 UTR3 Human protein_coding chr2:207656585 chr2:207656584 . . 0 hm6A_associated_SNPs_5051 1 Uncertain significance Cytochrome-c oxidase deficiency RCV000286398.1
378 chr2 209222202 209222202 1 + C T rs11538998 209222219 + 209222199 209222239 41 TTTCCTTGCCCATGACTTGAACAACTGTGTTTTAAAGTACT TTTTCTTGCCCATGACTTGAACAACTGTGTTTTAAAGTACT < 41bp 1 0.237287054957743 1 0.0272665321826935 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 PIKFYVE ENSG00000115020 UTR3 Human protein_coding chr2:209222219 chr2:209222202 . . 0 hm6A_associated_SNPs_5056 1 Benign Fleck corneal dystrophy RCV000263761.1
379 chr2 209222214 209222214 1 + C G rs59149007 209222219 + 209222199 209222239 41 TTTCCTTGCCCATGACTTGAACAACTGTGTTTTAAAGTACT TTTCCTTGCCCATGAGTTGAACAACTGTGTTTTAAAGTACT < 41bp 1 0.234090117847641 1 0.0191563069820404 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 16 PIKFYVE ENSG00000115020 UTR3 Human protein_coding chr2:209222219 chr2:209222214 . . 0 hm6A_associated_SNPs_5057 1 Benign Fleck corneal dystrophy RCV000316914.1
380 chr2 209222722 209222722 1 + A G rs564043919 209222734 + 209222714 209222754 41 ACCTAAGAAAAATAATGAGAACAAGCTGTTGCAAGCTCTTT ACCTAAGAGAAATAATGAGAACAAGCTGTTGCAAGCTCTTT < 41bp 1 0.215688459003676 1 0.232014983892441 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 9 PIKFYVE ENSG00000115020 UTR3 Human protein_coding chr2:209222734 chr2:209222722 . . 0 hm6A_associated_SNPs_5059 1 Likely benign Fleck corneal dystrophy RCV000405813.1
381 chr2 211421330 211421330 1 + G A rs182021022 211421349 + 211421329 211421369 41 CGCTGTGCAGTCAGCCTTAAACACTGACTGCACCCCTCCCA CACTGTGCAGTCAGCCTTAAACACTGACTGCACCCCTCCCA < 41bp 1 0.186675512715389 1 0.598897397518158 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 2 CPS1 ENSG00000021826 UTR5 Human protein_coding chr2:211421349 chr2:211421330 . . 0 hm6A_associated_SNPs_5063 1 Uncertain significance Congenital hyperammonemia, type I RCV000366183.1
382 chr2 211456637 211456637 1 + A G rs1047883 211456632 + 211456612 211456652 41 GAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCT GAATCATGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCT < 41bp 1 0.521163864174945 1 0.258632570505142 experiment 0.957672271650111 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 26 CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456632 chr2:211456637 nonsynonymous SNV 0.417 1 hm6A_associated_SNPs_5064 2 other not specified RCV000116829.5
383 chr2 211456637 211456637 1 + A G rs1047883 211456632 + 211456612 211456652 41 GAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCT GAATCATGGCTATGCCTTGGACAACGCCCTCCCTGCTGGCT < 41bp 1 0.521163864174945 1 0.258632570505142 experiment 0.957672271650111 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 26 CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456632 chr2:211456637 nonsynonymous SNV 0.417 1 hm6A_associated_SNPs_5064 2 Benign Congenital hyperammonemia, type I RCV000364698.1
384 chr2 211456639 211456639 1 + C T rs2229589 211456632 + 211456612 211456652 41 GAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCT GAATCATGGCTATGCCTTGGACAACACTCTCCCTGCTGGCT < 41bp 1 0.478111489982233 1 0.317463397979736 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 28 CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456632 chr2:211456639 synonymous SNV . 0 hm6A_associated_SNPs_5065 2 other not specified RCV000116830.5
385 chr2 211456639 211456639 1 + C T rs2229589 211456632 + 211456612 211456652 41 GAATCATGGCTATGCCTTGGACAACACCCTCCCTGCTGGCT GAATCATGGCTATGCCTTGGACAACACTCTCCCTGCTGGCT < 41bp 1 0.478111489982233 1 0.317463397979736 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 28 CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456632 chr2:211456639 synonymous SNV . 0 hm6A_associated_SNPs_5065 2 Benign Congenital hyperammonemia, type I RCV000302372.1
386 chr2 211456675 211456675 1 + C G rs34022862 211456685 + 211456665 211456705 41 TTGTGAATGTCAACGATCAAACAAATGAGGTAAATGATGTC TTGTGAATGTGAACGATCAAACAAATGAGGTAAATGATGTC < 41bp 1 0.410159827485869 1 0.408987522125244 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 11 CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456685 chr2:211456675 synonymous SNV . 0 hm6A_associated_SNPs_5067 2 Likely benign Congenital hyperammonemia, type I RCV000361706.1
387 chr2 211456675 211456675 1 + C G rs34022862 211456685 + 211456665 211456705 41 TTGTGAATGTCAACGATCAAACAAATGAGGTAAATGATGTC TTGTGAATGTGAACGATCAAACAAATGAGGTAAATGATGTC < 41bp 1 0.410159827485869 1 0.408987522125244 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 11 CPS1 ENSG00000021826 CDS Human protein_coding chr2:211456685 chr2:211456675 synonymous SNV . 0 hm6A_associated_SNPs_5067 2 Benign not specified RCV000426377.1
388 chr2 211543089 211543089 1 + C G rs10932349 211543086 + 211543066 211543106 41 TAAGATACTCTATTTTTAAAACACTATCTGCAAACTCAGGA TAAGATACTCTATTTTTAAAACAGTATCTGCAAACTCAGGA < 41bp 1 0.103463243938398 1 0.130438059568405 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 CPS1 ENSG00000021826 UTR3 Human protein_coding chr2:211543086 chr2:211543089 . . 0 hm6A_associated_SNPs_5070 1 Likely benign Congenital hyperammonemia, type I RCV000379437.1
389 chr2 211543655 211543655 1 + C T rs139770263 211543654 + 211543634 211543674 41 AAGACGATGGATTCTGTTGAACTATGGGGTCCCACACTGCA AAGACGATGGATTCTGTTGAATTATGGGGTCCCACACTGCA Direct Loss 1 0.107014443049193 1 0.311970412731171 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|25491922;GSE54921;PA-m6A-seq;HeLa;Control 22 CPS1 ENSG00000021826 UTR3 Human protein_coding chr2:211543654 chr2:211543655 . . 0 hm6A_associated_SNPs_5071 1 Uncertain significance Congenital hyperammonemia, type I RCV000363373.1
390 chr2 217280030 217280030 1 + G C rs35048226 217280035 + 217280015 217280055 41 AGCCTCCCCTTCGGGGCAGAACATTTCTTACATCCATTCTA AGCCTCCCCTTCGGGCCAGAACATTTCTTACATCCATTCTA < 41bp 1 0.748795496239484 1 0.886113584041595 experiment 0.502409007521032 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 16 SMARCAL1 ENSG00000138375 CDS Human protein_coding chr2:217280035 chr2:217280030 synonymous SNV . 0 hm6A_associated_SNPs_5088 1 Likely benign not specified RCV000247782.1
391 chr2 241813453 241813453 1 + G A rs33958047 241813470 + 241813450 241813490 41 CTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCC CTCACTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCC < 41bp 1 0.204007583429067 1 0.603743374347687 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 AGXT ENSG00000172482 CDS Human protein_coding chr2:241813470 chr2:241813453 synonymous SNV . 0 hm6A_associated_SNPs_5260 3 Benign not specified RCV000179243.2
392 chr2 241813453 241813453 1 + G A rs33958047 241813470 + 241813450 241813490 41 CTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCC CTCACTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCC < 41bp 1 0.204007583429067 1 0.603743374347687 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 AGXT ENSG00000172482 CDS Human protein_coding chr2:241813470 chr2:241813453 synonymous SNV . 0 hm6A_associated_SNPs_5260 3 Uncertain significance Primary hyperoxaluria, type I RCV000186247.1
393 chr2 241813453 241813453 1 + G A rs33958047 241813470 + 241813450 241813490 41 CTCGCTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCC CTCACTCATCTCCTTCAGTGACAAGGCCAAGTGAGTGACCC < 41bp 1 0.204007583429067 1 0.603743374347687 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 AGXT ENSG00000172482 CDS Human protein_coding chr2:241813470 chr2:241813453 synonymous SNV . 0 hm6A_associated_SNPs_5260 3 Likely benign Primary hyperoxaluria RCV000323159.1
394 chr2 241815411 241815411 1 + T C rs140992177 241815418 + 241815398 241815438 41 AGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTC AGCCTGGCCCTCACTGCGGAACAGGTGCATGGGCTGCACTC < 41bp 1 0.105366909694345 1 0.701932370662689 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 14 AGXT ENSG00000172482 CDS Human protein_coding chr2:241815418 chr2:241815411 nonsynonymous SNV 0.095 2 hm6A_associated_SNPs_5261 2 Benign not specified RCV000180093.1
395 chr2 241815411 241815411 1 + T C rs140992177 241815418 + 241815398 241815438 41 AGCCTGGCCCTCATTGCGGAACAGGTGCATGGGCTGCACTC AGCCTGGCCCTCACTGCGGAACAGGTGCATGGGCTGCACTC < 41bp 1 0.105366909694345 1 0.701932370662689 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 14 AGXT ENSG00000172482 CDS Human protein_coding chr2:241815418 chr2:241815411 nonsynonymous SNV 0.095 2 hm6A_associated_SNPs_5261 2 Uncertain significance Primary hyperoxaluria, type I RCV000186256.1
396 chr3 9712744 9712744 1 + G A rs9880613 9712740 + 9712720 9712760 41 TCTTTATTTCAGAAGTGGTGACACGCATCTTTTTGATAAGG TCTTTATTTCAGAAGTGGTGACACACATCTTTTTGATAAGG < 41bp 1 0.460052138181169 1 0.0425677895545959 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 25 MTMR14 ENSG00000163719 CDS Human protein_coding chr3:9712740 chr3:9712744 nonsynonymous SNV . 0 hm6A_associated_SNPs_5307 1 Likely benign not specified RCV000351660.1
397 chr3 10070336 10070336 1 + G C rs3732974 10070330 + 10070310 10070350 41 AAGTAATTTAAGTGCACAAGACATTGGTCAAAATGGTTTCC AAGTAATTTAAGTGCACAAGACATTGCTCAAAATGGTTTCC < 41bp 1 0.561594538693014 1 0.00984695553779602 experiment 0.876810922613972 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 27 FANCD2 ENSG00000144554 UTR5 Human protein_coding chr3:10070330 chr3:10070336 . . 0 hm6A_associated_SNPs_5320 1 Likely benign Fanconi anemia RCV000314537.1
398 chr3 10138069 10138069 1 + T G rs2272125 10138058 + 10138038 10138078 41 ATGTGCCTCTGCTCAAAAAGACCCTGGAACTTTTAGTTTGC ATGTGCCTCTGCTCAAAAAGACCCTGGAACTGTTAGTTTGC < 41bp 1 0.32931084119243 1 0.104377448558807 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 FANCD2 ENSG00000144554 CDS Human protein_coding chr3:10138058 chr3:10138069 synonymous SNV . 0 hm6A_associated_SNPs_5321 2 Benign not specified RCV000252662.1
399 chr3 10138069 10138069 1 + T G rs2272125 10138058 + 10138038 10138078 41 ATGTGCCTCTGCTCAAAAAGACCCTGGAACTTTTAGTTTGC ATGTGCCTCTGCTCAAAAAGACCCTGGAACTGTTAGTTTGC < 41bp 1 0.32931084119243 1 0.104377448558807 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 FANCD2 ENSG00000144554 CDS Human protein_coding chr3:10138058 chr3:10138069 synonymous SNV . 0 hm6A_associated_SNPs_5321 2 Benign Fanconi anemia RCV000264931.1
400 chr3 10192373 10192373 1 + T G rs13090104 10192390 + 10192370 10192410 41 CTGTTTCTAAACTAGGATTGACATTCTACAGTTGTGATAAT CTGGTTCTAAACTAGGATTGACATTCTACAGTTGTGATAAT < 41bp 1 0.559389865569689 1 0.0975148677825928 experiment 0.881220268860622 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 4 VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192390 chr3:10192373 . . 0 hm6A_associated_SNPs_5330 1 Likely benign Von Hippel-Lindau syndrome RCV000321204.1
401 chr3 10192469 10192469 1 + A G rs182781943 10192482 + 10192462 10192502 41 TTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAAT TTTGATTGTAGTATTAATGGACAAATAAGTTTTTGCTAAAT < 41bp 1 0.471027149143551 1 0.249729126691818 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control|26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 8 VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192482 chr3:10192469 . . 0 hm6A_associated_SNPs_5331 1 Likely benign Von Hippel-Lindau syndrome RCV000286130.1
402 chr3 10192472 10192472 1 + G A rs7629500 10192482 + 10192462 10192502 41 TTTGATTATAGTATTAATGGACAAATAAGTTTTTGCTAAAT TTTGATTATAATATTAATGGACAAATAAGTTTTTGCTAAAT < 41bp 1 0.512398090464355 1 0.307738125324249 experiment 0.97520381907129 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control|26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 11 VHL ENSG00000134086 UTR3 Human protein_coding chr3:10192482 chr3:10192472 . . 0 hm6A_associated_SNPs_5332 1 Likely benign Von Hippel-Lindau syndrome RCV000345717.1
403 chr3 14170988 14170988 1 + G A rs570799464 14170993 + 14170973 14171013 41 TCCTGGAACGGCTGAGCGAGACCTCGGGTGGGATGTTTGTG TCCTGGAACGGCTGAACGAGACCTCGGGTGGGATGTTTGTG < 41bp 1 0.162248987748402 1 0.181326657533646 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 TMEM43 ENSG00000170876 CDS Human protein_coding chr3:14170993 chr3:14170988 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_5356 1 Uncertain significance Cardiomyopathy, ARVC RCV000263129.1
404 chr3 14177355 14177355 1 + A T rs532872056 14177335 + 14177315 14177355 41 GATTGCCCGGCAGCGGGGTGACCAGCTAGTCCCATTCTCCA GATTGCCCGGCAGCGGGGTGACCAGCTAGTCCCATTCTCCT < 41bp 1 0.109391455304221 1 0.11795637011528 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 41 TMEM43 ENSG00000170876;ENSG00000268279 CDS Human other chr3:14177335 chr3:14177355 nonsynonymous SNV 0.933 3 hm6A_associated_SNPs_5357 1 Likely benign not specified RCV000152049.3
405 chr3 14184074 14184074 1 + A C rs13069 14184060 + 14184040 14184080 41 TTCTGAAATAAGATTTAAAAACAAAACAAAAAAAACACTTA TTCTGAAATAAGATTTAAAAACAAAACAAAAAAACCACTTA < 41bp 1 0.535515765543875 1 0.957981467247009 experiment 0.92896846891225 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 35 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184060 chr3:14184074 . . 0 hm6A_associated_SNPs_5358 2 Likely benign Xeroderma pigmentosum RCV000287769.1
406 chr3 14184074 14184074 1 + A C rs13069 14184060 + 14184040 14184080 41 TTCTGAAATAAGATTTAAAAACAAAACAAAAAAAACACTTA TTCTGAAATAAGATTTAAAAACAAAACAAAAAAACCACTTA < 41bp 1 0.535515765543875 1 0.957981467247009 experiment 0.92896846891225 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 35 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184060 chr3:14184074 . . 0 hm6A_associated_SNPs_5358 2 Likely benign Cardiomyopathy, ARVC RCV000296687.1
407 chr3 14184074 14184074 1 + A C rs13069 14184065 + 14184045 14184085 41 AAATAAGATTTAAAAACAAAACAAAAAAAACACTTAATATT AAATAAGATTTAAAAACAAAACAAAAAAACCACTTAATATT < 41bp 1 0.414875717691922 1 0.931052803993225 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 30 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184065 chr3:14184074 . . 0 hm6A_associated_SNPs_5359 2 Likely benign Xeroderma pigmentosum RCV000287769.1
408 chr3 14184074 14184074 1 + A C rs13069 14184065 + 14184045 14184085 41 AAATAAGATTTAAAAACAAAACAAAAAAAACACTTAATATT AAATAAGATTTAAAAACAAAACAAAAAAACCACTTAATATT < 41bp 1 0.414875717691922 1 0.931052803993225 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 30 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184065 chr3:14184074 . . 0 hm6A_associated_SNPs_5359 2 Likely benign Cardiomyopathy, ARVC RCV000296687.1
409 chr3 14184074 14184074 1 + A C rs13069 14184090 + 14184070 14184110 41 AAAAACACTTAATATTTCAGACTGTTACAGGAAACACCCTT AAAACCACTTAATATTTCAGACTGTTACAGGAAACACCCTT < 41bp 1 0.500618742081644 1 0.966306686401367 experiment 0.998762515836712 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown 5 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184090 chr3:14184074 . . 0 hm6A_associated_SNPs_5360 2 Likely benign Xeroderma pigmentosum RCV000287769.1
410 chr3 14184074 14184074 1 + A C rs13069 14184090 + 14184070 14184110 41 AAAAACACTTAATATTTCAGACTGTTACAGGAAACACCCTT AAAACCACTTAATATTTCAGACTGTTACAGGAAACACCCTT < 41bp 1 0.500618742081644 1 0.966306686401367 experiment 0.998762515836712 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown 5 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184090 chr3:14184074 . . 0 hm6A_associated_SNPs_5360 2 Likely benign Cardiomyopathy, ARVC RCV000296687.1
411 chr3 14184101 14184101 1 + A C rs58476065 14184090 + 14184070 14184110 41 AAAAACACTTAATATTTCAGACTGTTACAGGAAACACCCTT AAAAACACTTAATATTTCAGACTGTTACAGGCAACACCCTT < 41bp 1 0.528754263462948 1 0.969396770000458 experiment 0.942491473074105 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown 32 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184090 chr3:14184101 . . 0 hm6A_associated_SNPs_5361 1 Uncertain significance Cardiomyopathy, ARVC RCV000351511.1
412 chr3 14184219 14184219 1 + T C rs79741000 14184233 + 14184213 14184253 41 TTACAATGGATGCTTTTGAAACAAGTATCAGCAAAAGGATT TTACAACGGATGCTTTTGAAACAAGTATCAGCAAAAGGATT < 41bp 1 0.680491094112055 1 0.937139093875885 experiment 0.639017811775891 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 7 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184233 chr3:14184219 . . 0 hm6A_associated_SNPs_5362 2 Likely benign Xeroderma pigmentosum RCV000347440.1
413 chr3 14184219 14184219 1 + T C rs79741000 14184233 + 14184213 14184253 41 TTACAATGGATGCTTTTGAAACAAGTATCAGCAAAAGGATT TTACAACGGATGCTTTTGAAACAAGTATCAGCAAAAGGATT < 41bp 1 0.680491094112055 1 0.937139093875885 experiment 0.639017811775891 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 7 TMEM43 ENSG00000170876 UTR3 Human protein_coding chr3:14184233 chr3:14184219 . . 0 hm6A_associated_SNPs_5362 2 Likely benign Cardiomyopathy, ARVC RCV000366532.1
414 chr3 15677098 15677098 1 + T C rs397514333 15677101 + 15677081 15677121 41 TCCATCCATCCTGAGTCTGAACCCTCTGGCTCTCATCAGCC TCCATCCATCCTGAGTCCGAACCCTCTGGCTCTCATCAGCC < 41bp 1 0.315391434467907 1 0.482566446065903 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 BTD ENSG00000169814 CDS Human protein_coding chr3:15677101 chr3:15677098 nonsynonymous SNV 0.002 1 hm6A_associated_SNPs_5404 4 Pathogenic Biotinidase deficiency RCV000021886.1
415 chr3 15677098 15677098 1 + T C rs397514333 15677101 + 15677081 15677121 41 TCCATCCATCCTGAGTCTGAACCCTCTGGCTCTCATCAGCC TCCATCCATCCTGAGTCCGAACCCTCTGGCTCTCATCAGCC < 41bp 1 0.315391434467907 1 0.482566446065903 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 BTD ENSG00000169814 CDS Human protein_coding chr3:15677101 chr3:15677098 nonsynonymous SNV 0.002 1 hm6A_associated_SNPs_5404 4 Pathogenic Biotinidase deficiency RCV000021900.1
416 chr3 15677098 15677098 1 + T C rs397514333 15677101 + 15677081 15677121 41 TCCATCCATCCTGAGTCTGAACCCTCTGGCTCTCATCAGCC TCCATCCATCCTGAGTCCGAACCCTCTGGCTCTCATCAGCC < 41bp 1 0.315391434467907 1 0.482566446065903 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 BTD ENSG00000169814 CDS Human protein_coding chr3:15677101 chr3:15677098 nonsynonymous SNV 0.002 1 hm6A_associated_SNPs_5404 4 Pathogenic Biotinidase deficiency RCV000021901.1
417 chr3 15677098 15677098 1 + T C rs397514333 15677101 + 15677081 15677121 41 TCCATCCATCCTGAGTCTGAACCCTCTGGCTCTCATCAGCC TCCATCCATCCTGAGTCCGAACCCTCTGGCTCTCATCAGCC < 41bp 1 0.315391434467907 1 0.482566446065903 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 BTD ENSG00000169814 CDS Human protein_coding chr3:15677101 chr3:15677098 nonsynonymous SNV 0.002 1 hm6A_associated_SNPs_5404 4 other not specified RCV000427971.1
418 chr3 15686425 15686425 1 + G A rs148764524 15686427 + 15686407 15686447 41 GAATGCAACAGGTGAAACGGACCCATCCCATAGTAAGTTTT GAATGCAACAGGTGAAACAGACCCATCCCATAGTAAGTTTT < 41bp 1 0.718106550397929 1 0.589921712875366 experiment 0.563786899204141 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26593424;GSE73405;miCLIP;HepG2;Control 19 BTD ENSG00000169814 CDS Human protein_coding chr3:15686427 chr3:15686425 synonymous SNV . 0 hm6A_associated_SNPs_5405 1 Likely benign not specified RCV000369904.1
419 chr3 31621354 31621354 1 + A G rs139496568 31621364 + 31621344 31621384 41 TTTTAAATACATTGAACATAACTGTTCACATAAGAGACGTA TTTTAAATACGTTGAACATAACTGTTCACATAAGAGACGTA < 41bp 1 0.560648243901505 1 0.886959195137024 experiment 0.87870351219699 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 STT3B ENSG00000163527 CDS Human protein_coding chr3:31621364 chr3:31621354 synonymous SNV . 0 hm6A_associated_SNPs_5442 1 Benign not specified RCV000435378.1
420 chr3 31674561 31674561 1 + A G rs140420950 31674569 + 31674549 31674589 41 TAAAGTAAAAGCACCTGATAACAGGGAGACATTAGATCACA TAAAGTAAAAGCGCCTGATAACAGGGAGACATTAGATCACA < 41bp 1 0.677246671803283 1 0.817990899085999 experiment 0.645506656393435 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 13 STT3B ENSG00000163527 CDS Human protein_coding chr3:31674569 chr3:31674561 synonymous SNV . 0 hm6A_associated_SNPs_5445 1 Likely benign not specified RCV000444139.1
421 chr3 32207462 32207462 1 + C T rs72558074 32207469 + 32207449 32207489 41 TCTTTTGGGTTCACGTGGAAACCAGGACTTGGCAACATGAT TCTTTTGGGTTCATGTGGAAACCAGGACTTGGCAACATGAT < 41bp 1 0.0805483857169229 1 0.779926896095276 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 14 GPD1L ENSG00000152642 UTR3 Human protein_coding chr3:32207469 chr3:32207462 . . 0 hm6A_associated_SNPs_5446 1 Uncertain significance Brugada syndrome RCV000315432.1
422 chr3 32207462 32207462 1 + C T rs72558074 32207475 + 32207455 32207495 41 GGGTTCACGTGGAAACCAGGACTTGGCAACATGATGTTTGA GGGTTCATGTGGAAACCAGGACTTGGCAACATGATGTTTGA < 41bp 1 0.470673192674377 1 0.870818972587585 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 8 GPD1L ENSG00000152642 UTR3 Human protein_coding chr3:32207475 chr3:32207462 . . 0 hm6A_associated_SNPs_5447 1 Uncertain significance Brugada syndrome RCV000315432.1
423 chr3 32207808 32207808 1 + C G rs78129605 32207816 + 32207796 32207836 41 TTAAATTTTAACCAGCATTAACATGGTAGAGTGGAGGAGTG TTAAATTTTAACGAGCATTAACATGGTAGAGTGGAGGAGTG < 41bp 1 0.206206663581929 1 0.015809029340744 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 13 GPD1L ENSG00000152642 UTR3 Human protein_coding chr3:32207816 chr3:32207808 . . 0 hm6A_associated_SNPs_5448 1 Likely benign Brugada syndrome RCV000353748.1
424 chr3 32209927 32209927 1 + A G rs7363 32209937 + 32209917 32209957 41 CCACCCTCCTATAATATGGAACAAATATCTGAATGAAATCC CCACCCTCCTGTAATATGGAACAAATATCTGAATGAAATCC < 41bp 1 0.13111866540893 1 0.329856693744659 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 GPD1L ENSG00000152642 UTR3 Human protein_coding chr3:32209937 chr3:32209927 . . 0 hm6A_associated_SNPs_5452 1 Likely benign Brugada syndrome RCV000405210.1
425 chr3 33185522 33185522 1 + C A rs1137463 33185535 + 33185515 33185555 41 TAGCTGCCATATTGTGAAAAACTTTAGTGGACAAGGGCAGA TAGCTGCAATATTGTGAAAAACTTTAGTGGACAAGGGCAGA < 41bp 1 0.172094726912865 1 0.0365388095378876 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 8 CRTAP ENSG00000170275 UTR3 Human protein_coding chr3:33185535 chr3:33185522 . . 0 hm6A_associated_SNPs_5458 1 Likely benign Osteogenesis Imperfecta, Recessive RCV000391367.1
426 chr3 33188069 33188069 1 + T C rs76450273 33188067 + 33188047 33188087 41 ATACCTTCCTGATTTTCGAGACTTTCTAATTACTACAACTA ATACCTTCCTGATTTTCGAGACCTTCTAATTACTACAACTA < 41bp 1 0.1688423633192 1 0.826620817184448 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 23 CRTAP ENSG00000272149 ncRNA_intronic Human antisense chr3:33188067 chr3:33188069 . . 0 hm6A_associated_SNPs_5460 1 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000346087.1
427 chr3 33188714 33188714 1 + C T rs11925558 33188727 + 33188707 33188747 41 TGCCTGCCCCCAGGGGCAAGACTGATCCCCATGCCTGTGCC TGCCTGCTCCCAGGGGCAAGACTGATCCCCATGCCTGTGCC < 41bp 1 0.26476637000185 1 0.904236197471619 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 8 CRTAP ENSG00000272149 ncRNA_intronic Human antisense chr3:33188727 chr3:33188714 . . 0 hm6A_associated_SNPs_5461 1 Likely benign Osteogenesis Imperfecta, Recessive RCV000360280.1
428 chr3 39425233 39425233 1 + T G rs139033679 39425226 + 39425206 39425246 41 CTCATCTCCAATGATTCAGAACTCACGTCCGTCGCTGCTGC CTCATCTCCAATGATTCAGAACTCACGGCCGTCGCTGCTGC < 41bp 1 0.579477751328993 1 0.991849780082703 experiment 0.841044497342015 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 28 SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39425226 chr3:39425233 synonymous SNV . 0 hm6A_associated_SNPs_5501 1 Likely benign not specified RCV000417760.1
429 chr3 39431081 39431081 1 + G A rs2270770 39431073 + 39431053 39431093 41 AACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAG AACCTCTGGATCTCCTTAAAACACGCCTACAAACCCTCCAG < 41bp 1 0.750299524816606 1 0.0420648455619812 experiment 0.499400950366788 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 29 SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431073 chr3:39431081 synonymous SNV . 0 hm6A_associated_SNPs_5503 3 Benign not specified RCV000286235.2
430 chr3 39431081 39431081 1 + G A rs2270770 39431073 + 39431053 39431093 41 AACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAG AACCTCTGGATCTCCTTAAAACACGCCTACAAACCCTCCAG < 41bp 1 0.750299524816606 1 0.0420648455619812 experiment 0.499400950366788 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 29 SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431073 chr3:39431081 synonymous SNV . 0 hm6A_associated_SNPs_5503 3 Benign Hereditary sideroblastic anemia RCV000317815.1
431 chr3 39431081 39431081 1 + G A rs2270770 39431073 + 39431053 39431093 41 AACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAG AACCTCTGGATCTCCTTAAAACACGCCTACAAACCCTCCAG < 41bp 1 0.750299524816606 1 0.0420648455619812 experiment 0.499400950366788 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 29 SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431073 chr3:39431081 synonymous SNV . 0 hm6A_associated_SNPs_5503 3 Benign Refractory anemia with ringed sideroblasts (clinical) RCV000372560.1
432 chr3 39438442 39438442 1 + G A rs73058292 39438433 + 39438413 39438453 41 AGGAGCTCCAACCAGGGAAGACTGGATGTGAGGAGAGGAGT AGGAGCTCCAACCAGGGAAGACTGGATGTAAGGAGAGGAGT < 41bp 1 0.661887032036323 1 0.973081946372986 experiment 0.676225935927355 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 30 SLC25A38 ENSG00000144659 UTR3 Human protein_coding chr3:39438433 chr3:39438442 . . 0 hm6A_associated_SNPs_5504 2 Uncertain significance Hereditary sideroblastic anemia RCV000285639.1
433 chr3 39438442 39438442 1 + G A rs73058292 39438433 + 39438413 39438453 41 AGGAGCTCCAACCAGGGAAGACTGGATGTGAGGAGAGGAGT AGGAGCTCCAACCAGGGAAGACTGGATGTAAGGAGAGGAGT < 41bp 1 0.661887032036323 1 0.973081946372986 experiment 0.676225935927355 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 30 SLC25A38 ENSG00000144659 UTR3 Human protein_coding chr3:39438433 chr3:39438442 . . 0 hm6A_associated_SNPs_5504 2 Uncertain significance Refractory anemia with ringed sideroblasts (clinical) RCV000382297.1
434 chr3 39438483 39438483 1 + G T rs141567816 39438473 + 39438453 39438493 41 TCACTGTCACCAGGTCACAGACTGACTGAGGTGATGGTAGG TCACTGTCACCAGGTCACAGACTGACTGAGTTGATGGTAGG < 41bp 1 0.78830097449028 1 0.981193780899048 experiment 0.423398051019441 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 31 SLC25A38 ENSG00000144659 UTR3 Human protein_coding chr3:39438473 chr3:39438483 . . 0 hm6A_associated_SNPs_5505 2 Likely benign Hereditary sideroblastic anemia RCV000342953.1
435 chr3 39438483 39438483 1 + G T rs141567816 39438473 + 39438453 39438493 41 TCACTGTCACCAGGTCACAGACTGACTGAGGTGATGGTAGG TCACTGTCACCAGGTCACAGACTGACTGAGTTGATGGTAGG < 41bp 1 0.78830097449028 1 0.981193780899048 experiment 0.423398051019441 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 31 SLC25A38 ENSG00000144659 UTR3 Human protein_coding chr3:39438473 chr3:39438483 . . 0 hm6A_associated_SNPs_5505 2 Likely benign Refractory anemia with ringed sideroblasts (clinical) RCV000376052.1
436 chr3 41266971 41266971 1 + C G rs3856747 41266957 + 41266937 41266977 41 AGAATACAAATGATGTAGAAACAGCTCGTTGTACCGCTGGG AGAATACAAATGATGTAGAAACAGCTCGTTGTACGGCTGGG < 41bp 1 0.775070785306459 1 0.879650354385376 experiment 0.449858429387082 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266957 chr3:41266971 synonymous SNV . 0 hm6A_associated_SNPs_5515 1 Likely benign not specified RCV000499585.1
437 chr3 45436102 45436102 1 + T C rs141607519 45436108 + 45436088 45436128 41 CAAAAGAGTATACATTGCAGACAAGAAAGGATGTTGAGAAA CAAAAGAGTATACACTGCAGACAAGAAAGGATGTTGAGAAA < 41bp 1 0.672864450357092 1 0.587563097476959 experiment 0.654271099285817 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 LARS2 ENSG00000011376 CDS Human protein_coding chr3:45436108 chr3:45436102 synonymous SNV . 0 hm6A_associated_SNPs_5563 1 Benign not specified RCV000221317.2
438 chr3 45527218 45527218 1 + T C rs7610357 45527211 + 45527191 45527231 41 CACGCCTGTAATGGCTGTGAACATGCTTACCCAGCAGGAGG CACGCCTGTAATGGCTGTGAACATGCTCACCCAGCAGGAGG < 41bp 1 0.645879412773753 1 0.0809882283210754 experiment 0.708241174452493 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 28 LARS2 ENSG00000011376 CDS Human protein_coding chr3:45527211 chr3:45527218 synonymous SNV . 0 hm6A_associated_SNPs_5564 1 Benign not specified RCV000217249.3
439 chr3 46937262 46937262 1 + G A rs116789130 46937254 + 46937234 46937274 41 TGGAATCAGACAAGGGATGGACATCTGCGTCCACATCAGGG TGGAATCAGACAAGGGATGGACATCTGCATCCACATCAGGG < 41bp 1 0.439092770681402 1 0.14238578081131 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 29 PTH1R ENSG00000160801 CDS Human protein_coding chr3:46937254 chr3:46937262 synonymous SNV . 0 hm6A_associated_SNPs_5587 2 Likely benign Metaphyseal chondrodysplasia RCV000302428.1
440 chr3 46937262 46937262 1 + G A rs116789130 46937254 + 46937234 46937274 41 TGGAATCAGACAAGGGATGGACATCTGCGTCCACATCAGGG TGGAATCAGACAAGGGATGGACATCTGCATCCACATCAGGG < 41bp 1 0.439092770681402 1 0.14238578081131 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 29 PTH1R ENSG00000160801 CDS Human protein_coding chr3:46937254 chr3:46937262 synonymous SNV . 0 hm6A_associated_SNPs_5587 2 Likely benign Chondrodysplasia RCV000402184.1
441 chr3 49059451 49059451 1 + G C rs74601553 49059433 + 49059413 49059453 41 TCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGT TCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCCGT < 41bp 1 0.243001728953599 1 0.981044888496399 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 39 NDUFAF3 ENSG00000178057 UTR5 Human protein_coding chr3:49059433 chr3:49059451 . . 0 hm6A_associated_SNPs_5624 1 Uncertain significance Mitochondrial complex I deficiency RCV000333640.1
442 chr3 49059452 49059452 1 + G C rs75749590 49059433 + 49059413 49059453 41 TCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGGT TCGGCCTCCTAAGACTGAGGACACTCGCCTGCTGGGCCGCT < 41bp 1 0.243733751228947 1 0.979265093803406 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 40 NDUFAF3 ENSG00000178057 UTR5 Human protein_coding chr3:49059433 chr3:49059452 . . 0 hm6A_associated_SNPs_5625 1 Uncertain significance Mitochondrial complex I deficiency RCV000381247.1
443 chr3 49570464 49570464 1 + T C rs149564053 49570459 + 49570439 49570479 41 CCAACCAGAGTGTGCCCGAGACCACTCCTCTGAACCAGGAC CCAACCAGAGTGTGCCCGAGACCACCCCTCTGAACCAGGAC < 41bp 1 0.7982044405653 1 0.997848451137543 experiment 0.4035911188694 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 26 DAG1 ENSG00000173402 CDS Human protein_coding chr3:49570459 chr3:49570464 synonymous SNV . 0 hm6A_associated_SNPs_5626 1 Uncertain significance not specified RCV000288741.1
444 chr3 49572140 49572140 1 + A G rs4625 49572143 + 49572123 49572163 41 ATCTGCATCTCTGTCCCATGACTCAGGGGCGCCCACTCTGC ATCTGCATCTCTGTCCCGTGACTCAGGGGCGCCCACTCTGC < 41bp 1 0.675100930583364 1 0.910039901733398 experiment 0.649798138833272 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 18 DAG1 ENSG00000173402 UTR3 Human protein_coding chr3:49572143 chr3:49572140 . . 0 hm6A_associated_SNPs_5630 1 not provided not provided RCV000024450.1
445 chr3 49572894 49572894 1 + T C rs6446283 49572901 + 49572881 49572921 41 GGGCTGGTGATGGTCGTTGGACTCTGTGAGATGGAGAGCCA GGGCTGGTGATGGCCGTTGGACTCTGTGAGATGGAGAGCCA < 41bp 1 0.708906004079341 1 0.964942753314972 experiment 0.582187991841317 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 14 DAG1 ENSG00000173402 UTR3 Human protein_coding chr3:49572901 chr3:49572894 . . 0 hm6A_associated_SNPs_5631 1 not provided not provided RCV000024451.1
446 chr3 58107182 58107182 1 + C T rs147267045 58107170 + 58107150 58107190 41 GTAGACGTGACCTACGATGGACACCCTGTGCCCGGGAGCCC GTAGACGTGACCTACGATGGACACCCTGTGCCTGGGAGCCC < 41bp 1 0.482433560502528 1 0.855918765068054 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 33 FLNB ENSG00000136068 CDS Human protein_coding chr3:58107170 chr3:58107182 synonymous SNV . 0 hm6A_associated_SNPs_5702 1 Benign not specified RCV000254237.1
447 chr3 58109162 58109162 1 + G A rs1131356 58109179 + 58109159 58109199 41 GTCGACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGA GTCAACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGA < 41bp 1 0.683128629026252 1 0.997292399406433 experiment 0.633742741947495 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 FLNB ENSG00000136068 CDS Human protein_coding chr3:58109179 chr3:58109162 nonsynonymous SNV 0.566 4 hm6A_associated_SNPs_5703 2 Benign not specified RCV000250004.3
448 chr3 58109162 58109162 1 + G A rs1131356 58109179 + 58109159 58109199 41 GTCGACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGA GTCAACTGCTCGGAAGCGGGACCGGGGGCCCTGGGCCTGGA < 41bp 1 0.683128629026252 1 0.997292399406433 experiment 0.633742741947495 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 FLNB ENSG00000136068 CDS Human protein_coding chr3:58109179 chr3:58109162 nonsynonymous SNV 0.566 4 hm6A_associated_SNPs_5703 2 Likely benign FLNB-Related Spectrum Disorders RCV000333788.1
449 chr3 58157070 58157070 1 + C T rs114665501 58157086 + 58157066 58157106 41 CAGCCGGGCACCCTACAGAAACTCAGAGGGCAGAGTGGCAG CAGCTGGGCACCCTACAGAAACTCAGAGGGCAGAGTGGCAG < 41bp 1 0.225088047865559 1 0.109490305185318 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 FLNB ENSG00000136068 UTR3 Human protein_coding chr3:58157086 chr3:58157070 . . 0 hm6A_associated_SNPs_5710 1 Likely benign FLNB-Related Spectrum Disorders RCV000315734.1
450 chr3 58157081 58157081 1 + C G rs11667 58157086 + 58157066 58157106 41 CAGCCGGGCACCCTACAGAAACTCAGAGGGCAGAGTGGCAG CAGCCGGGCACCCTAGAGAAACTCAGAGGGCAGAGTGGCAG < 41bp 1 0.17602956527483 1 0.0496915280818939 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 FLNB ENSG00000136068 UTR3 Human protein_coding chr3:58157086 chr3:58157081 . . 0 hm6A_associated_SNPs_5711 1 Likely benign FLNB-Related Spectrum Disorders RCV000294548.1
451 chr3 70014447 70014447 1 + T C rs9863910 70014461 + 70014441 70014481 41 CTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCT CTTGATCCGTAGATTTAATAACTTACCTGAAGGGGTTTTCT < 41bp 1 0.367179752935181 1 0.995578169822693 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 MITF ENSG00000187098 UTR3 Human protein_coding chr3:70014461 chr3:70014447 . . 0 hm6A_associated_SNPs_5742 2 Benign Tietz syndrome RCV000311958.1
452 chr3 70014447 70014447 1 + T C rs9863910 70014461 + 70014441 70014481 41 CTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCT CTTGATCCGTAGATTTAATAACTTACCTGAAGGGGTTTTCT < 41bp 1 0.367179752935181 1 0.995578169822693 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 MITF ENSG00000187098 UTR3 Human protein_coding chr3:70014461 chr3:70014447 . . 0 hm6A_associated_SNPs_5742 2 Benign Waardenburg syndrome RCV000368955.1
453 chr3 70014634 70014634 1 + T C rs183031244 70014639 + 70014619 70014659 41 TAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTT TAAGTGTGCAGTATCCGTGAACTGAATTCACCACAGACTTT < 41bp 1 0.719934696713106 1 0.99688184261322 experiment 0.560130606573787 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 16 MITF ENSG00000187098 UTR3 Human protein_coding chr3:70014639 chr3:70014634 . . 0 hm6A_associated_SNPs_5743 2 Likely benign Tietz syndrome RCV000327471.1
454 chr3 70014634 70014634 1 + T C rs183031244 70014639 + 70014619 70014659 41 TAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTT TAAGTGTGCAGTATCCGTGAACTGAATTCACCACAGACTTT < 41bp 1 0.719934696713106 1 0.99688184261322 experiment 0.560130606573787 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 16 MITF ENSG00000187098 UTR3 Human protein_coding chr3:70014639 chr3:70014634 . . 0 hm6A_associated_SNPs_5743 2 Likely benign Waardenburg syndrome RCV000365752.1
455 chr3 87294929 87294929 1 + A G rs148750997 87294947 + 87294927 87294967 41 CAACTTGTGCATCTACGGAAACAGAAGACGAGAACTTTTGC CAGCTTGTGCATCTACGGAAACAGAAGACGAGAACTTTTGC < 41bp 1 0.687604230198424 1 0.926544308662415 experiment 0.624791539603152 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 3 CHMP2B ENSG00000083937 CDS Human protein_coding chr3:87294947 chr3:87294929 synonymous SNV . 0 hm6A_associated_SNPs_5754 1 Likely benign Frontotemporal dementia RCV000347050.1
456 chr3 87299075 87299075 1 + A C rs1044499 87299073 + 87299053 87299093 41 ATCCACAAAAGACATTACAAACAATGCAGAATTTCCAGAAG ATCCACAAAAGACATTACAAACCATGCAGAATTTCCAGAAG < 41bp 1 0.286803682726148 1 0.944484889507294 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 CHMP2B ENSG00000083937 CDS Human protein_coding chr3:87299073 chr3:87299075 synonymous SNV . 0 hm6A_associated_SNPs_5755 3 not provided not provided RCV000084273.1
457 chr3 87299075 87299075 1 + A C rs1044499 87299073 + 87299053 87299093 41 ATCCACAAAAGACATTACAAACAATGCAGAATTTCCAGAAG ATCCACAAAAGACATTACAAACCATGCAGAATTTCCAGAAG < 41bp 1 0.286803682726148 1 0.944484889507294 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 CHMP2B ENSG00000083937 CDS Human protein_coding chr3:87299073 chr3:87299075 synonymous SNV . 0 hm6A_associated_SNPs_5755 3 Benign not specified RCV000244940.1
458 chr3 87299075 87299075 1 + A C rs1044499 87299073 + 87299053 87299093 41 ATCCACAAAAGACATTACAAACAATGCAGAATTTCCAGAAG ATCCACAAAAGACATTACAAACCATGCAGAATTTCCAGAAG < 41bp 1 0.286803682726148 1 0.944484889507294 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 CHMP2B ENSG00000083937 CDS Human protein_coding chr3:87299073 chr3:87299075 synonymous SNV . 0 hm6A_associated_SNPs_5755 3 Benign Frontotemporal dementia RCV000402232.1
459 chr3 87304162 87304162 1 + G T rs115892684 87304167 + 87304147 87304187 41 ATAAAATGAAGGATTGCCAGACTAGTTAGAATAGAATTTAG ATAAAATGAAGGATTTCCAGACTAGTTAGAATAGAATTTAG < 41bp 1 0.136286835706748 1 0.146348863840103 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 16 CHMP2B ENSG00000083937 UTR3 Human protein_coding chr3:87304167 chr3:87304162 . . 0 hm6A_associated_SNPs_5757 1 Likely benign Frontotemporal dementia RCV000386865.1
460 chr3 87304560 87304560 1 + C T rs11426 87304551 + 87304531 87304571 41 GTACATAATAATGCCATCTAACTTATTTACGTTCTTGTTTA GTACATAATAATGCCATCTAACTTATTTATGTTCTTGTTTA < 41bp 1 0.0847161676515926 1 0.142375975847244 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 30 CHMP2B ENSG00000083937 UTR3 Human protein_coding chr3:87304551 chr3:87304560 . . 0 hm6A_associated_SNPs_5759 1 Likely benign Frontotemporal dementia RCV000336612.1
461 chr3 87304561 87304561 1 + G A rs1060241 87304551 + 87304531 87304571 41 GTACATAATAATGCCATCTAACTTATTTACGTTCTTGTTTA GTACATAATAATGCCATCTAACTTATTTACATTCTTGTTTA < 41bp 1 0.083064083366141 1 0.243593573570251 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 31 CHMP2B ENSG00000083937 UTR3 Human protein_coding chr3:87304551 chr3:87304561 . . 0 hm6A_associated_SNPs_5760 2 Likely benign Combined Pituitary Hormone Deficiency, Recessive RCV000372680.1
462 chr3 87304561 87304561 1 + G A rs1060241 87304551 + 87304531 87304571 41 GTACATAATAATGCCATCTAACTTATTTACGTTCTTGTTTA GTACATAATAATGCCATCTAACTTATTTACATTCTTGTTTA < 41bp 1 0.083064083366141 1 0.243593573570251 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 31 CHMP2B ENSG00000083937 UTR3 Human protein_coding chr3:87304551 chr3:87304561 . . 0 hm6A_associated_SNPs_5760 2 Benign Frontotemporal dementia RCV000399132.1
463 chr3 93772810 93772810 1 + C T rs75280469 93772809 + 93772789 93772829 41 ATTCTCAGATCTTTATTCTAACAATTACATGATTTGAAAAC ATTCTCAGATCTTTATTCTAATAATTACATGATTTGAAAAC Direct Loss 1 0.0689433853309956 1 0.67397153377533 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 22 ARL13B ENSG00000169379 UTR3 Human protein_coding chr3:93772809 chr3:93772810 . . 0 hm6A_associated_SNPs_5768 1 Likely benign Joubert syndrome RCV000286870.1
464 chr3 101284117 101284117 1 + G C rs16844031 101284127 + 101284107 101284147 41 AAAATATCAAGCTGCTAGAAACCACTGAGGAAGATAAACAG AAAATATCAACCTGCTAGAAACCACTGAGGAAGATAAACAG < 41bp 1 0.606214330027875 1 0.970975160598755 experiment 0.787571339944251 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 11 TRMT10C ENSG00000174173 CDS Human protein_coding chr3:101284127 chr3:101284117 nonsynonymous SNV 0.153 0 hm6A_associated_SNPs_5797 1 Benign not provided RCV000419324.1
465 chr3 111261045 111261045 1 + A G rs370450188 111261049 + 111261029 111261069 41 TTGCTTGAAAACATCAATTGACTTTGTGATCATTACAGAAA TTGCTTGAAAACATCAGTTGACTTTGTGATCATTACAGAAA < 41bp 1 0.2061068856538 1 0.791948318481445 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 17 CD96 ENSG00000153283 UTR5 Human protein_coding chr3:111261049 chr3:111261045 . . 0 hm6A_associated_SNPs_5847 1 Likely benign C syndrome RCV000330297.1
466 chr3 124462959 124462959 1 + A G rs3772810 124462967 + 124462947 124462987 41 TTTTCAGATACAATGTGAAGACATTGAAGATATGTGGTCCT TTTTCAGATACAGTGTGAAGACATTGAAGATATGTGGTCCT < 41bp 1 0.595922797527088 1 0.805047631263733 experiment 0.808154404945824 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 13 UMPS ENSG00000114491 UTR3 Human protein_coding chr3:124462967 chr3:124462959 . . 0 hm6A_associated_SNPs_5909 1 Likely benign Orotic aciduria RCV000282849.1
467 chr3 128445096 128445096 1 + C T rs374777610 128445107 + 128445087 128445127 41 GAGAGTTCCCTGGAACCAGAACTTGGACCTTCTCGCTTCTG GAGAGTTCCTTGGAACCAGAACTTGGACCTTCTCGCTTCTG < 41bp 1 0.625661122907903 1 0.864551663398743 experiment 0.748677754184195 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 10 RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445107 chr3:128445096 . . 0 hm6A_associated_SNPs_5954 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000274846.1
468 chr3 128445114 128445114 1 + C G rs141622970 128445107 + 128445087 128445127 41 GAGAGTTCCCTGGAACCAGAACTTGGACCTTCTCGCTTCTG GAGAGTTCCCTGGAACCAGAACTTGGAGCTTCTCGCTTCTG < 41bp 1 0.58872519187984 1 0.784237504005432 experiment 0.82254961624032 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 28 RAB7A ENSG00000075785 UTR5 Human protein_coding chr3:128445107 chr3:128445114 . . 0 hm6A_associated_SNPs_5955 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000330009.1
469 chr3 128526409 128526409 1 + C G rs61758751 128526426 + 128526406 128526446 41 GGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGA GGCGTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGA < 41bp 1 0.759726351472466 1 0.370939433574677 experiment 0.480547297055068 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 4 RAB7A ENSG00000075785 CDS Human protein_coding chr3:128526426 chr3:128526409 synonymous SNV . 0 hm6A_associated_SNPs_5956 2 Benign not specified RCV000334464.1
470 chr3 128526409 128526409 1 + C G rs61758751 128526426 + 128526406 128526446 41 GGCCTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGA GGCGTGGTGCTACAGCAAAAACAACATTCCCTACTTTGAGA < 41bp 1 0.759726351472466 1 0.370939433574677 experiment 0.480547297055068 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 4 RAB7A ENSG00000075785 CDS Human protein_coding chr3:128526426 chr3:128526409 synonymous SNV . 0 hm6A_associated_SNPs_5956 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000377374.1
471 chr3 128532471 128532471 1 + G A rs16851333 128532479 + 128532459 128532499 41 CACAGATCTGACGTAATCAAACTCCAGCCCTTGCCCGTGAT CACAGATCTGACATAATCAAACTCCAGCCCTTGCCCGTGAT < 41bp 1 0.354853403163609 1 0.387430518865585 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 13 RAB7A ENSG00000075785 UTR3 Human protein_coding chr3:128532479 chr3:128532471 . . 0 hm6A_associated_SNPs_5957 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000314361.1
472 chr3 128533639 128533639 1 + G A rs539522952 128533628 + 128533608 128533648 41 CGCAATGCCAATAAAATTGAACAAGAACAATGATCATCTGC CGCAATGCCAATAAAATTGAACAAGAACAATAATCATCTGC < 41bp 1 0.398475728306152 1 0.378087252378464 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 32 RAB7A ENSG00000075785 UTR3 Human protein_coding chr3:128533628 chr3:128533639 . . 0 hm6A_associated_SNPs_5960 1 Likely benign Charcot-Marie-Tooth, Type 2 RCV000307747.1
473 chr3 129196984 129196984 1 + C T rs61744639 129196973 + 129196953 129196993 41 GTATTCAGAGGACTTATCAGACATGCATTACCGGGTAAAGG GTATTCAGAGGACTTATCAGACATGCATTACTGGGTAAAGG < 41bp 1 0.765703636511287 1 0.938056647777557 experiment 0.468592726977426 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 32 IFT122 ENSG00000163913 CDS Human protein_coding chr3:129196973 chr3:129196984 nonsynonymous SNV 0.999 3 hm6A_associated_SNPs_5969 1 Likely benign not specified RCV000317731.1
474 chr3 130672769 130672769 1 + G A rs6810181 130672777 + 130672757 130672797 41 AGATCTTGCATCGAGAAGTAACATTGCCTTTATGGGAACAC AGATCTTGCATCAAGAAGTAACATTGCCTTTATGGGAACAC < 41bp 1 0.621192730732601 1 0.922816634178162 experiment 0.757614538534798 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 ATP2C1 ENSG00000017260 CDS Human protein_coding chr3:130672777 chr3:130672769 synonymous SNV . 0 hm6A_associated_SNPs_5970 1 Benign Familial benign pemphigus RCV000326832.1
475 chr3 133473445 133473445 1 + C T rs41298987 133473456 + 133473436 133473476 41 AGGCAGGTCCGCTGGGTGGAACATCCCCATAGGCTTACTTT AGGCAGGTCTGCTGGGTGGAACATCCCCATAGGCTTACTTT < 41bp 1 0.235615363507343 1 0.0609109997749329 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 10 TF ENSG00000091513 CDS Human protein_coding chr3:133473456 chr3:133473445 synonymous SNV . 0 hm6A_associated_SNPs_5993 1 Likely benign Atransferrinemia RCV000278130.1
476 chr3 133475722 133475722 1 + C T rs1799852 133475726 + 133475706 133475746 41 GTATGAGCTGCTTTGCCTGGACAACACCCGGAAGCCGGTAG GTATGAGCTGCTTTGCTTGGACAACACCCGGAAGCCGGTAG < 41bp 1 0.24852619368407 1 0.729470133781433 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 17 TF ENSG00000091513 CDS Human protein_coding chr3:133475726 chr3:133475722 synonymous SNV . 0 hm6A_associated_SNPs_5994 1 Benign Atransferrinemia RCV000343557.1
477 chr3 133475812 133475812 1 + G A rs1799899 133475822 + 133475802 133475842 41 AAGTATGGGCGGCAAGGAGGACTTGATCTGGGAGCTTCTCA AAGTATGGGCAGCAAGGAGGACTTGATCTGGGAGCTTCTCA < 41bp 1 0.084236310152219 1 0.809125602245331 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 11 TF ENSG00000091513 CDS Human protein_coding chr3:133475822 chr3:133475812 nonsynonymous SNV 0.613 3 hm6A_associated_SNPs_5995 2 Uncertain significance Iron deficiency anemia RCV000013457.4
478 chr3 133475812 133475812 1 + G A rs1799899 133475822 + 133475802 133475842 41 AAGTATGGGCGGCAAGGAGGACTTGATCTGGGAGCTTCTCA AAGTATGGGCAGCAAGGAGGACTTGATCTGGGAGCTTCTCA < 41bp 1 0.084236310152219 1 0.809125602245331 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 11 TF ENSG00000091513 CDS Human protein_coding chr3:133475822 chr3:133475812 nonsynonymous SNV 0.613 3 hm6A_associated_SNPs_5995 2 Likely benign Atransferrinemia RCV000308514.1
479 chr3 133494354 133494354 1 + C T rs1049296 133494353 + 133494333 133494373 41 TGCCTTGATGGTACCAGGAAACCTGTGGAGGAGTATGCGAA TGCCTTGATGGTACCAGGAAATCTGTGGAGGAGTATGCGAA Direct Loss 1 0.055398962824857 1 0.816345870494843 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 22 TF ENSG00000091513 CDS Human protein_coding chr3:133494353 chr3:133494354 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_5996 3 other Transferrin variant c1/c2 RCV000013451.23
480 chr3 133494354 133494354 1 + C T rs1049296 133494353 + 133494333 133494373 41 TGCCTTGATGGTACCAGGAAACCTGTGGAGGAGTATGCGAA TGCCTTGATGGTACCAGGAAATCTGTGGAGGAGTATGCGAA Direct Loss 1 0.055398962824857 1 0.816345870494843 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 22 TF ENSG00000091513 CDS Human protein_coding chr3:133494353 chr3:133494354 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_5996 3 other Alzheimer disease, susceptibility to RCV000013452.3
481 chr3 133494354 133494354 1 + C T rs1049296 133494353 + 133494333 133494373 41 TGCCTTGATGGTACCAGGAAACCTGTGGAGGAGTATGCGAA TGCCTTGATGGTACCAGGAAATCTGTGGAGGAGTATGCGAA Direct Loss 1 0.055398962824857 1 0.816345870494843 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 22 TF ENSG00000091513 CDS Human protein_coding chr3:133494353 chr3:133494354 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_5996 3 Benign Atransferrinemia RCV000376325.1
482 chr3 135969333 135969333 1 + T C rs182412270 135969339 + 135969319 135969359 41 TGTTAACGAACGCATCGAAAACAAGCGCCGGACCGCGCTGC TGTTAACGAACGCACCGAAAACAAGCGCCGGACCGCGCTGC < 41bp 1 0.281060356508001 1 0.79142701625824 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 PCCB ENSG00000114054 CDS Human protein_coding chr3:135969339 chr3:135969333 nonsynonymous SNV 0.984 4 hm6A_associated_SNPs_6003 1 Uncertain significance Propionic acidemia RCV000313553.1
483 chr3 139065830 139065830 1 + A C rs73866065 139065815 + 139065795 139065835 41 CAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTATACAA CAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTCTACAA < 41bp 1 0.756749074647843 1 0.885714411735535 experiment 0.486501850704314 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 36 MRPS22 ENSG00000175110 CDS Human protein_coding chr3:139065815 chr3:139065830 nonsynonymous SNV 0.962 1 hm6A_associated_SNPs_6013 3 Benign not specified RCV000126807.1
484 chr3 139065830 139065830 1 + A C rs73866065 139065815 + 139065795 139065835 41 CAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTATACAA CAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTCTACAA < 41bp 1 0.756749074647843 1 0.885714411735535 experiment 0.486501850704314 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 36 MRPS22 ENSG00000175110 CDS Human protein_coding chr3:139065815 chr3:139065830 nonsynonymous SNV 0.962 1 hm6A_associated_SNPs_6013 3 Benign not provided RCV000224358.1
485 chr3 139065830 139065830 1 + A C rs73866065 139065815 + 139065795 139065835 41 CAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTATACAA CAGGCTTGAACTTGCAGAAGACTTTTAAGCCAGCTCTACAA < 41bp 1 0.756749074647843 1 0.885714411735535 experiment 0.486501850704314 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 36 MRPS22 ENSG00000175110 CDS Human protein_coding chr3:139065815 chr3:139065830 nonsynonymous SNV 0.962 1 hm6A_associated_SNPs_6013 3 Likely benign Combined oxidative phosphorylation deficiency RCV000359793.1
486 chr3 148459972 148459972 1 + T G rs5185 148459954 + 148459934 148459974 41 GTGAAAGAAGGAGCAAGAGAACATTCCTCTGCAGCACTTCA GTGAAAGAAGGAGCAAGAGAACATTCCTCTGCAGCACTGCA < 41bp 1 0.11142839991463 1 0.947881877422333 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 39 AGTR1 ENSG00000144891 UTR3 Human protein_coding chr3:148459954 chr3:148459972 . . 0 hm6A_associated_SNPs_6053 1 Likely benign Renal dysplasia RCV000315608.1
487 chr3 148460037 148460037 1 + C T rs1799870 148460031 + 148460011 148460051 41 GGAGAAAATGCATTATGTGGACTGAACCGACTTTTCTAAAG GGAGAAAATGCATTATGTGGACTGAATCGACTTTTCTAAAG < 41bp 1 0.0999591784462251 1 0.994222402572632 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 27 AGTR1 ENSG00000144891 UTR3 Human protein_coding chr3:148460031 chr3:148460037 . . 0 hm6A_associated_SNPs_6055 1 Likely benign Renal dysplasia RCV000261670.1
488 chr3 148727133 148727133 1 + G A rs4938 148727124 + 148727104 148727144 41 GCAACAACAGATATCAGAAAACACCTGCCGTTTATTTATAA GCAACAACAGATATCAGAAAACACCTGCCATTTATTTATAA < 41bp 1 0.565438147412921 1 0.00743904709815979 experiment 0.869123705174157 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 30 GYG1 ENSG00000163754 CDS Human protein_coding chr3:148727124 chr3:148727133 synonymous SNV . 0 hm6A_associated_SNPs_6056 1 Benign not specified RCV000435478.1
489 chr3 148871401 148871401 1 + A G rs149640235 148871415 + 148871395 148871435 41 GAAGCCATTCCAGAGAGAAGACAGTCACCCAAGAGGCTTCT GAAGCCGTTCCAGAGAGAAGACAGTCACCCAAGAGGCTTCT < 41bp 1 0.365636539885504 1 0.897429943084717 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 7 HPS3 ENSG00000163755 CDS Human protein_coding chr3:148871415 chr3:148871401 nonsynonymous SNV 0.996 0 hm6A_associated_SNPs_6058 1 Uncertain significance Hermansky-Pudlak syndrome RCV000401104.1
490 chr3 148878015 148878015 1 + G A rs140443498 148878032 + 148878012 148878052 41 TCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGA TCTAAAAATGGGAGATCTTGACATGCACAGAAATGAAATGA < 41bp 1 0.602900031819238 1 0.58813464641571 experiment 0.794199936361525 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31548708;GSE125780;DART-seq;HEK293T;Control 4 HPS3 ENSG00000163755 CDS Human protein_coding chr3:148878032 chr3:148878015 synonymous SNV . 0 hm6A_associated_SNPs_6059 2 Benign not specified RCV000219052.1
491 chr3 148878015 148878015 1 + G A rs140443498 148878032 + 148878012 148878052 41 TCTGAAAATGGGAGATCTTGACATGCACAGAAATGAAATGA TCTAAAAATGGGAGATCTTGACATGCACAGAAATGAAATGA < 41bp 1 0.602900031819238 1 0.58813464641571 experiment 0.794199936361525 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31548708;GSE125780;DART-seq;HEK293T;Control 4 HPS3 ENSG00000163755 CDS Human protein_coding chr3:148878032 chr3:148878015 synonymous SNV . 0 hm6A_associated_SNPs_6059 2 Uncertain significance Hermansky-Pudlak syndrome RCV000328208.1
492 chr3 148890420 148890420 1 + A T rs188137938 148890414 - 148890394 148890434 41 AAATTCTGGACCAGTTAGTGACATTCTTTCAAGCATACTTG AAATTCTGGACCAGATAGTGACATTCTTTCAAGCATACTTG < 41bp 1 0.377112447217834 1 0.875410437583923 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 15 CP;HPS3 ENSG00000047457;ENSG00000163755 UTR3 Human other chr3:148890414 chr3:148890420 . . 0 hm6A_associated_SNPs_6062 2 Uncertain significance Deficiency of ferroxidase RCV000289811.1
493 chr3 148890420 148890420 1 + A T rs188137938 148890414 - 148890394 148890434 41 AAATTCTGGACCAGTTAGTGACATTCTTTCAAGCATACTTG AAATTCTGGACCAGATAGTGACATTCTTTCAAGCATACTTG < 41bp 1 0.377112447217834 1 0.875410437583923 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 15 CP;HPS3 ENSG00000047457;ENSG00000163755 UTR3 Human other chr3:148890414 chr3:148890420 . . 0 hm6A_associated_SNPs_6062 2 Uncertain significance Hermansky-Pudlak syndrome RCV000347124.1
494 chr3 148890992 148890992 1 + T G rs13098532 148890991 - 148890971 148891011 41 TGAGTTTTGTGAACCCCTGAACAGATGGTCTTAAGGACGTT TGAGTTTTGTGAACCCCTGCACAGATGGTCTTAAGGACGTT Direct Loss 1 0.0443745201417243 1 0.00271058082580566 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 20 CP ENSG00000047457;ENSG00000163755 UTR3 Human other chr3:148890991 chr3:148890992 . . 0 hm6A_associated_SNPs_6063 2 Uncertain significance Deficiency of ferroxidase RCV000269434.1
495 chr3 148890992 148890992 1 + T G rs13098532 148890991 - 148890971 148891011 41 TGAGTTTTGTGAACCCCTGAACAGATGGTCTTAAGGACGTT TGAGTTTTGTGAACCCCTGCACAGATGGTCTTAAGGACGTT Direct Loss 1 0.0443745201417243 1 0.00271058082580566 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 20 CP ENSG00000047457;ENSG00000163755 UTR3 Human other chr3:148890991 chr3:148890992 . . 0 hm6A_associated_SNPs_6063 2 Uncertain significance Hermansky-Pudlak syndrome RCV000326802.1
496 chr3 158409262 158409262 1 + C T rs1047355 158409256 + 158409236 158409276 41 AAAGGAAAAGCCAAGAACTAACTTTGCTTACTGTGAGTTGA AAAGGAAAAGCCAAGAACTAACTTTGTTTACTGTGAGTTGA < 41bp 1 0.773382044702648 1 0.859737396240234 experiment 0.453235910594705 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 27 GFM1 ENSG00000168827 UTR3 Human protein_coding chr3:158409256 chr3:158409262 . . 0 hm6A_associated_SNPs_6103 1 Benign Combined oxidative phosphorylation deficiency RCV000317038.1
497 chr3 181430601 181430601 1 + G A rs74480245 181430621 + 181430601 181430641 41 GGGCGTGAACCAGCGCATGGACAGTTACGCGCACATGAACG AGGCGTGAACCAGCGCATGGACAGTTACGCGCACATGAACG < 41bp 1 0.644446331656346 1 0.999944925308228 experiment 0.711107336687309 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 1 SOX2 ENSG00000181449 CDS Human protein_coding chr3:181430621 chr3:181430601 synonymous SNV . 0 hm6A_associated_SNPs_6166 1 Benign not specified RCV000173300.1
498 chr3 183862859 183862859 1 + T C rs14955 183862841 + 183862821 183862861 41 TGACCACCATCCAGGCTGAGACTGAAAGGAGCAGAGGCTGG TGACCACCATCCAGGCTGAGACTGAAAGGAGCAGAGGCCGG < 41bp 1 0.60856363780524 1 0.958267331123352 experiment 0.78287272438952 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 39 EIF2B5 ENSG00000145191 UTR3 Human protein_coding chr3:183862841 chr3:183862859 . . 0 hm6A_associated_SNPs_6189 1 Likely benign Leukoencephalopathy with vanishing white matter RCV000364925.1
499 chr3 191100568 191100568 1 + A G rs114146378 191100582 + 191100562 191100602 41 AAGTCAAAAGAGAGTGATGAACCTCACCATTCTAAGAATGA AAGTCAGAAGAGAGTGATGAACCTCACCATTCTAAGAATGA < 41bp 1 0.105989103688402 1 0.920474827289581 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 7 CCDC50 ENSG00000152492 CDS Human protein_coding chr3:191100582 chr3:191100568 nonsynonymous SNV 0.994 2 hm6A_associated_SNPs_6261 1 Likely benign not specified RCV000223270.1
500 chr3 193372687 193372687 1 + A G rs73069703 193372707 + 193372687 193372727 41 ATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGC GTCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGC < 41bp 1 0.722922888662739 1 0.878779292106628 experiment 0.554154222674523 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 1 OPA1 ENSG00000198836 CDS Human protein_coding chr3:193372707 chr3:193372687 synonymous SNV . 0 hm6A_associated_SNPs_6263 2 Benign not specified RCV000081756.5
501 chr3 193372687 193372687 1 + A G rs73069703 193372707 + 193372687 193372727 41 ATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGC GTCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGC < 41bp 1 0.722922888662739 1 0.878779292106628 experiment 0.554154222674523 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 1 OPA1 ENSG00000198836 CDS Human protein_coding chr3:193372707 chr3:193372687 synonymous SNV . 0 hm6A_associated_SNPs_6263 2 Likely benign Optic Atrophy, Dominant RCV000376369.1
502 chr3 193372726 193372726 1 + G A rs138114609 193372707 + 193372687 193372727 41 ATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCGC ATCAACTCATGTGATTGAAAACATCTACCTTCCAGCTGCAC < 41bp 1 0.694985390440193 1 0.901925444602966 experiment 0.610029219119614 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 40 OPA1 ENSG00000198836 CDS Human protein_coding chr3:193372707 chr3:193372726 synonymous SNV . 0 hm6A_associated_SNPs_6264 1 Uncertain significance not specified RCV000176099.1
503 chr3 193412609 193412609 1 + A G rs76421015 193412615 + 193412595 193412635 41 TATTTTGTTGTACTAAAGTGACAAATCGGAATAATATAATT TATTTTGTTGTACTGAAGTGACAAATCGGAATAATATAATT < 41bp 1 0.599670384043645 1 0.898981809616089 experiment 0.80065923191271 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 15 OPA1 ENSG00000198836 UTR3 Human protein_coding chr3:193412615 chr3:193412609 . . 0 hm6A_associated_SNPs_6265 1 Likely benign Optic Atrophy, Dominant RCV000315355.1
504 chr3 197682650 197682650 1 + C T rs116874993 197682645 + 197682625 197682665 41 TGTACCCCTCAAGGATTTAAACTAACGAAAAATCAATAAAT TGTACCCCTCAAGGATTTAAACTAATGAAAAATCAATAAAT < 41bp 1 0.393801697732605 1 0.0157336890697479 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31548708;GSE125780;DART-seq;HEK293T;Control 26 RPL35A ENSG00000182899 UTR3 Human protein_coding chr3:197682645 chr3:197682650 . . 0 hm6A_associated_SNPs_6320 2 Likely benign Diamond-Blackfan anemia RCV000363453.1
505 chr3 197682650 197682650 1 + C T rs116874993 197682645 + 197682625 197682665 41 TGTACCCCTCAAGGATTTAAACTAACGAAAAATCAATAAAT TGTACCCCTCAAGGATTTAAACTAATGAAAAATCAATAAAT < 41bp 1 0.393801697732605 1 0.0157336890697479 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31548708;GSE125780;DART-seq;HEK293T;Control 26 RPL35A ENSG00000182899 UTR3 Human protein_coding chr3:197682645 chr3:197682650 . . 0 hm6A_associated_SNPs_6320 2 Likely benign not specified RCV000501568.1
506 chr3 197682658 197682658 1 + C A rs10022 197682645 + 197682625 197682665 41 TGTACCCCTCAAGGATTTAAACTAACGAAAAATCAATAAAT TGTACCCCTCAAGGATTTAAACTAACGAAAAATAAATAAAT < 41bp 1 0.3921007639995 1 0.0218755602836609 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31548708;GSE125780;DART-seq;HEK293T;Control 34 RPL35A ENSG00000182899 UTR3 Human protein_coding chr3:197682645 chr3:197682658 . . 0 hm6A_associated_SNPs_6321 1 Likely benign Diamond-Blackfan anemia RCV000402389.1
507 chr4 1807166 1807166 1 + C T rs140594137 1807153 + 1807133 1807173 41 GGCGGAGGCCATCGGCATTGACAAGGACCGGGCCGCCAAGC GGCGGAGGCCATCGGCATTGACAAGGACCGGGCTGCCAAGC < 41bp 1 0.701703373831256 1 0.984421849250793 experiment 0.596593252337489 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 34 FGFR3 ENSG00000068078 CDS Human protein_coding chr4:1807153 chr4:1807166 synonymous SNV . 0 hm6A_associated_SNPs_6374 1 Uncertain significance not specified RCV000366351.1
508 chr4 1807166 1807166 1 + C T rs140594137 1807159 + 1807139 1807179 41 GGCCATCGGCATTGACAAGGACCGGGCCGCCAAGCCTGTCA GGCCATCGGCATTGACAAGGACCGGGCTGCCAAGCCTGTCA < 41bp 1 0.220546907590111 1 0.989098310470581 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 28 FGFR3 ENSG00000068078 CDS Human protein_coding chr4:1807159 chr4:1807166 synonymous SNV . 0 hm6A_associated_SNPs_6375 1 Uncertain significance not specified RCV000366351.1
509 chr4 1808391 1808391 1 + G A rs17882190 1808383 + 1808363 1808403 41 GAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACAC GAAGGAGGGCCACCGCATGGACAAGCCCACCAACTGCACAC < 41bp 1 0.495805442160695 1 0.994746685028076 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|31257032;GSE122961;MAZTER-seq;HEK293T;Control 29 FGFR3 ENSG00000068078 CDS Human protein_coding chr4:1808383 chr4:1808391 nonsynonymous SNV 0.987 1 hm6A_associated_SNPs_6377 2 not provided not specified RCV000121083.1
510 chr4 1808391 1808391 1 + G A rs17882190 1808383 + 1808363 1808403 41 GAAGGAGGGCCACCGCATGGACAAGCCCGCCAACTGCACAC GAAGGAGGGCCACCGCATGGACAAGCCCACCAACTGCACAC < 41bp 1 0.495805442160695 1 0.994746685028076 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|31257032;GSE122961;MAZTER-seq;HEK293T;Control 29 FGFR3 ENSG00000068078 CDS Human protein_coding chr4:1808383 chr4:1808391 nonsynonymous SNV 0.987 1 hm6A_associated_SNPs_6377 2 Likely benign not provided RCV000419889.1
511 chr4 1976691 1976691 1 + C T rs138946638 1976690 + 1976670 1976710 41 CAAGTGGACAGTGAATGGGGACACTCGTGTGGGCCTGTTTG CAAGTGGACAGTGAATGGGGATACTCGTGTGGGCCTGTTTG Direct Loss 1 0.640858085621247 1 0.852580308914185 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 22 NSD2 ENSG00000109685 CDS Human protein_coding chr4:1976690 chr4:1976691 synonymous SNV . 0 hm6A_associated_SNPs_6380 1 Likely benign 4p partial monosomy syndrome RCV000341332.1
512 chr4 1981310 1981310 1 + A G rs115893772 1981313 + 1981293 1981333 41 ATTTGAATGAAATGCCAATAACACGTCCACTTTCAACGTGT ATTTGAATGAAATGCCAGTAACACGTCCACTTTCAACGTGT < 41bp 1 0.22902474650673 1 0.560110032558441 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 18 NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1981313 chr4:1981310 . . 0 hm6A_associated_SNPs_6382 1 Likely benign 4p partial monosomy syndrome RCV000329336.1
513 chr4 1982973 1982973 1 + A C rs146115430 1982961 + 1982941 1982981 41 GTTAAACTAATGAGCAAGTAACACTAACTTTGAATGTCTCT GTTAAACTAATGAGCAAGTAACACTAACTTTGCATGTCTCT < 41bp 1 0.194181461813845 1 0.779096722602844 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 33 NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1982961 chr4:1982973 . . 0 hm6A_associated_SNPs_6385 1 Likely benign 4p partial monosomy syndrome RCV000358687.1
514 chr4 1982973 1982973 1 + A C rs146115430 1982967 + 1982947 1982987 41 CTAATGAGCAAGTAACACTAACTTTGAATGTCTCTACAATA CTAATGAGCAAGTAACACTAACTTTGCATGTCTCTACAATA < 41bp 1 0.261911128156243 1 0.889897644519806 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control 27 NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1982967 chr4:1982973 . . 0 hm6A_associated_SNPs_6386 1 Likely benign 4p partial monosomy syndrome RCV000358687.1
515 chr4 1983844 1983844 1 + A G rs142634124 1983827 + 1983807 1983847 41 TACTGAAATAGAGAGTTGAGACTTGCCAGTTGGGGGAAAAT TACTGAAATAGAGAGTTGAGACTTGCCAGTTGGGGGAGAAT < 41bp 1 0.173493742901578 1 0.403381884098053 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 38 NSD2 ENSG00000109685 UTR3 Human protein_coding chr4:1983827 chr4:1983844 . . 0 hm6A_associated_SNPs_6392 1 Likely benign 4p partial monosomy syndrome RCV000346746.1
516 chr4 2835603 2835603 1 + C T rs115443380 2835608 + 2835588 2835628 41 AGGCAGTCACAGGGGCCCTGACCCCAGGCCACACAGACGGA AGGCAGTCACAGGGGTCCTGACCCCAGGCCACACAGACGGA < 41bp 1 0.539106606700833 1 0.798675537109375 experiment 0.921786786598333 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 16 SH3BP2 ENSG00000087266 UTR3 Human protein_coding chr4:2835608 chr4:2835603 . . 0 hm6A_associated_SNPs_6401 1 Benign Fibrous dysplasia of jaw RCV000383303.1
517 chr4 2835723 2835723 1 + G A rs61791176 2835704 + 2835684 2835724 41 TGTGATGGACATCTCGTAGGACCCAGCCAGTCTCATCCAGC TGTGATGGACATCTCGTAGGACCCAGCCAGTCTCATCCAAC < 41bp 1 0.605057888484711 1 0.832345068454742 experiment 0.789884223030579 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SH3BP2 ENSG00000087266 UTR3 Human protein_coding chr4:2835704 chr4:2835723 . . 0 hm6A_associated_SNPs_6402 1 Likely benign Fibrous dysplasia of jaw RCV000294762.1
518 chr4 2835866 2835866 1 + C T rs140456631 2835850 + 2835830 2835870 41 GCTGTGCCTGGGCTCCAAGGACAGGAACACTGGTCCCCCCA GCTGTGCCTGGGCTCCAAGGACAGGAACACTGGTCCTCCCA < 41bp 1 0.72333431678343 1 0.774969100952148 experiment 0.553331366433141 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 37 SH3BP2 ENSG00000087266 UTR3 Human protein_coding chr4:2835850 chr4:2835866 . . 0 hm6A_associated_SNPs_6404 1 Likely benign Fibrous dysplasia of jaw RCV000351955.1
519 chr4 2835866 2835866 1 + C T rs140456631 2835856 + 2835836 2835876 41 CCTGGGCTCCAAGGACAGGAACACTGGTCCCCCCATCACAC CCTGGGCTCCAAGGACAGGAACACTGGTCCTCCCATCACAC < 41bp 1 0.67345512472459 1 0.561542928218842 experiment 0.65308975055082 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 31 SH3BP2 ENSG00000087266 UTR3 Human protein_coding chr4:2835856 chr4:2835866 . . 0 hm6A_associated_SNPs_6405 1 Likely benign Fibrous dysplasia of jaw RCV000351955.1
520 chr4 2836628 2836628 1 + C T rs231394 2836621 + 2836601 2836641 41 AAGATTTTTTGGAGGAAGTAACAGCTACGATGGGATGGGAA AAGATTTTTTGGAGGAAGTAACAGCTATGATGGGATGGGAA < 41bp 1 0.357189814227251 1 0.104287654161453 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 28 SH3BP2 ENSG00000087266 UTR3 Human protein_coding chr4:2836621 chr4:2836628 . . 0 hm6A_associated_SNPs_6406 1 Benign Fibrous dysplasia of jaw RCV000391823.1
521 chr4 5814412 5814412 1 + T C rs371788560 5814402 + 5814382 5814422 41 TCCTTTGATGGAGGTTAGGGACTGTCACCCTCAGCACTGTG TCCTTTGATGGAGGTTAGGGACTGTCACCCCCAGCACTGTG < 41bp 1 0.591828641665074 1 0.997430682182312 experiment 0.816342716669853 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814402 chr4:5814412 . . 0 hm6A_associated_SNPs_6443 2 Likely benign Curry-Hall syndrome RCV000350721.1
522 chr4 5814412 5814412 1 + T C rs371788560 5814402 + 5814382 5814422 41 TCCTTTGATGGAGGTTAGGGACTGTCACCCTCAGCACTGTG TCCTTTGATGGAGGTTAGGGACTGTCACCCCCAGCACTGTG < 41bp 1 0.591828641665074 1 0.997430682182312 experiment 0.816342716669853 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814402 chr4:5814412 . . 0 hm6A_associated_SNPs_6443 2 Likely benign Ellis-van Creveld Syndrome RCV000386549.1
523 chr4 5814412 5814412 1 + T C rs371788560 5814424 + 5814404 5814444 41 TGTCACCCTCAGCACTGTGAACATACCGGGCGAGATCATTC TGTCACCCCCAGCACTGTGAACATACCGGGCGAGATCATTC < 41bp 1 0.724971332506536 1 0.987443268299103 experiment 0.550057334986929 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814424 chr4:5814412 . . 0 hm6A_associated_SNPs_6444 2 Likely benign Curry-Hall syndrome RCV000350721.1
524 chr4 5814412 5814412 1 + T C rs371788560 5814424 + 5814404 5814444 41 TGTCACCCTCAGCACTGTGAACATACCGGGCGAGATCATTC TGTCACCCCCAGCACTGTGAACATACCGGGCGAGATCATTC < 41bp 1 0.724971332506536 1 0.987443268299103 experiment 0.550057334986929 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814424 chr4:5814412 . . 0 hm6A_associated_SNPs_6444 2 Likely benign Ellis-van Creveld Syndrome RCV000386549.1
525 chr4 5814613 5814613 1 + C G rs75438311 5814628 + 5814608 5814648 41 TTGCCCTGGTCTAATCCAGGACATAGCCGTGGATACGTCCA TTGCCGTGGTCTAATCCAGGACATAGCCGTGGATACGTCCA < 41bp 1 0.763869654783433 1 0.86956524848938 experiment 0.472260690433135 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814628 chr4:5814613 . . 0 hm6A_associated_SNPs_6445 2 Benign Ellis-van Creveld Syndrome RCV000304437.1
526 chr4 5814613 5814613 1 + C G rs75438311 5814628 + 5814608 5814648 41 TTGCCCTGGTCTAATCCAGGACATAGCCGTGGATACGTCCA TTGCCGTGGTCTAATCCAGGACATAGCCGTGGATACGTCCA < 41bp 1 0.763869654783433 1 0.86956524848938 experiment 0.472260690433135 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814628 chr4:5814613 . . 0 hm6A_associated_SNPs_6445 2 Benign Curry-Hall syndrome RCV000358993.1
527 chr4 5814889 5814889 1 + T G rs139771274 5814883 + 5814863 5814903 41 CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTT CTCTTGTGGTTCACTAAAAAACTTGGGTATTCCATGGAGTT < 41bp 1 0.579062477824444 1 0.617411851882935 experiment 0.841875044351111 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 27 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814883 chr4:5814889 . . 0 hm6A_associated_SNPs_6446 2 Likely benign Ellis-van Creveld Syndrome RCV000275174.1
528 chr4 5814889 5814889 1 + T G rs139771274 5814883 + 5814863 5814903 41 CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTT CTCTTGTGGTTCACTAAAAAACTTGGGTATTCCATGGAGTT < 41bp 1 0.579062477824444 1 0.617411851882935 experiment 0.841875044351111 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 27 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814883 chr4:5814889 . . 0 hm6A_associated_SNPs_6446 2 Likely benign Curry-Hall syndrome RCV000330370.1
529 chr4 5814890 5814890 1 + T G rs191415414 5814883 + 5814863 5814903 41 CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTT CTCTTGTGGTTCACTAAAAAACTTGGTGATTCCATGGAGTT < 41bp 1 0.579561995143678 1 0.531586766242981 experiment 0.840876009712644 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 28 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814883 chr4:5814890 . . 0 hm6A_associated_SNPs_6447 2 Likely benign Ellis-van Creveld Syndrome RCV000281172.1
530 chr4 5814890 5814890 1 + T G rs191415414 5814883 + 5814863 5814903 41 CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTT CTCTTGTGGTTCACTAAAAAACTTGGTGATTCCATGGAGTT < 41bp 1 0.579561995143678 1 0.531586766242981 experiment 0.840876009712644 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 28 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814883 chr4:5814890 . . 0 hm6A_associated_SNPs_6447 2 Likely benign Curry-Hall syndrome RCV000375582.1
531 chr4 5814896 5814896 1 + A G rs11939264 5814883 + 5814863 5814903 41 CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTT CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCGTGGAGTT < 41bp 1 0.564291472231608 1 0.506186962127686 experiment 0.871417055536785 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 34 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814883 chr4:5814896 . . 0 hm6A_associated_SNPs_6448 2 Likely benign Curry-Hall syndrome RCV000336269.1
532 chr4 5814896 5814896 1 + A G rs11939264 5814883 + 5814863 5814903 41 CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCATGGAGTT CTCTTGTGGTTCACTAAAAAACTTGGTTATTCCGTGGAGTT < 41bp 1 0.564291472231608 1 0.506186962127686 experiment 0.871417055536785 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 34 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5814883 chr4:5814896 . . 0 hm6A_associated_SNPs_6448 2 Likely benign Ellis-van Creveld Syndrome RCV000372321.1
533 chr4 5815635 5815635 1 + C T rs3733189 5815643 + 5815623 5815663 41 GGTGCTTTCATCCGTCACAAACTGGCACCTGTACCTGCCAG GGTGCTTTCATCTGTCACAAACTGGCACCTGTACCTGCCAG < 41bp 1 0.240545581680129 1 0.8461012840271 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5815643 chr4:5815635 . . 0 hm6A_associated_SNPs_6449 2 Benign Ellis-van Creveld Syndrome RCV000267907.1
534 chr4 5815635 5815635 1 + C T rs3733189 5815643 + 5815623 5815663 41 GGTGCTTTCATCCGTCACAAACTGGCACCTGTACCTGCCAG GGTGCTTTCATCTGTCACAAACTGGCACCTGTACCTGCCAG < 41bp 1 0.240545581680129 1 0.8461012840271 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 EVC ENSG00000072840 UTR3 Human protein_coding chr4:5815643 chr4:5815635 . . 0 hm6A_associated_SNPs_6449 2 Benign Curry-Hall syndrome RCV000352963.1
535 chr4 6302992 6302992 1 + C T rs146027767 6302981 + 6302961 6303001 41 ACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTC ACCTGAAGGTCCTTGGCCAGACCTTCATCACTGTGCCTGTC < 41bp 1 0.60105154709805 1 0.998147130012512 experiment 0.7978969058039 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 WFS1 ENSG00000109501 CDS Human protein_coding chr4:6302981 chr4:6302992 synonymous SNV . 0 hm6A_associated_SNPs_6451 1 Likely benign not specified RCV000155341.1
536 chr4 6303354 6303354 1 + G A rs734312 6303362 + 6303342 6303382 41 CCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTG CCCTGCTGTTGCACTGGTGGACCAAGGCCAGCTTCTCTGTG < 41bp 1 0.693589898134704 1 0.99359405040741 experiment 0.612820203730592 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303362 chr4:6303354 nonsynonymous SNV 0.952 1 hm6A_associated_SNPs_6452 3 other not specified RCV000038646.10
537 chr4 6303354 6303354 1 + G A rs734312 6303362 + 6303342 6303382 41 CCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTG CCCTGCTGTTGCACTGGTGGACCAAGGCCAGCTTCTCTGTG < 41bp 1 0.693589898134704 1 0.99359405040741 experiment 0.612820203730592 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303362 chr4:6303354 nonsynonymous SNV 0.952 1 hm6A_associated_SNPs_6452 3 Benign Nonsyndromic Hearing Loss, Dominant RCV000339307.1
538 chr4 6303354 6303354 1 + G A rs734312 6303362 + 6303342 6303382 41 CCCTGCTGTTGCGCTGGTGGACCAAGGCCAGCTTCTCTGTG CCCTGCTGTTGCACTGGTGGACCAAGGCCAGCTTCTCTGTG < 41bp 1 0.693589898134704 1 0.99359405040741 experiment 0.612820203730592 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 WFS1 ENSG00000109501 CDS Human protein_coding chr4:6303362 chr4:6303354 nonsynonymous SNV 0.952 1 hm6A_associated_SNPs_6452 3 Benign WFS1-Related Spectrum Disorders RCV000404430.1
539 chr4 6304344 6304344 1 + G A rs1046320 6304348 + 6304328 6304368 41 ACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTG ACCATGTGTAGATTGCATGGACCCCGACAAAGGGAAGGCTG < 41bp 1 0.741814999186349 1 0.990005135536194 experiment 0.516370001627303 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304348 chr4:6304344 . . 0 hm6A_associated_SNPs_6454 2 Benign Nonsyndromic Hearing Loss, Dominant RCV000317741.1
540 chr4 6304344 6304344 1 + G A rs1046320 6304348 + 6304328 6304368 41 ACCATGTGTAGATTGCGTGGACCCCGACAAAGGGAAGGCTG ACCATGTGTAGATTGCATGGACCCCGACAAAGGGAAGGCTG < 41bp 1 0.741814999186349 1 0.990005135536194 experiment 0.516370001627303 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304348 chr4:6304344 . . 0 hm6A_associated_SNPs_6454 2 Benign WFS1-Related Spectrum Disorders RCV000356153.1
541 chr4 6304436 6304436 1 + T C rs60985011 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCCGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA < 41bp 1 0.675527759844207 1 0.944441318511963 experiment 0.648944480311586 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304436 . . 0 hm6A_associated_SNPs_6455 2 Likely benign WFS1-Related Spectrum Disorders RCV000262863.1
542 chr4 6304436 6304436 1 + T C rs60985011 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCCGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA < 41bp 1 0.675527759844207 1 0.944441318511963 experiment 0.648944480311586 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304436 . . 0 hm6A_associated_SNPs_6455 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000320318.1
543 chr4 6304437 6304437 1 + G C rs80055761 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCTCACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA < 41bp 1 0.669726287286627 1 0.929446339607239 experiment 0.660547425426747 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304437 . . 0 hm6A_associated_SNPs_6456 2 Likely benign WFS1-Related Spectrum Disorders RCV000285131.1
544 chr4 6304437 6304437 1 + G C rs80055761 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCTCACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA < 41bp 1 0.669726287286627 1 0.929446339607239 experiment 0.660547425426747 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304437 . . 0 hm6A_associated_SNPs_6456 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000377244.1
545 chr4 6304448 6304448 1 + G A rs1046322 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCTGACCTTTCTGAATGACATGGGTGTGCCAGGCTAGA < 41bp 1 0.730352869285515 1 0.957057297229767 experiment 0.539294261428969 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304448 . . 0 hm6A_associated_SNPs_6457 2 Likely benign WFS1-Related Spectrum Disorders RCV000323988.1
546 chr4 6304448 6304448 1 + G A rs1046322 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCTGACCTTTCTGAATGACATGGGTGTGCCAGGCTAGA < 41bp 1 0.730352869285515 1 0.957057297229767 experiment 0.539294261428969 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304448 . . 0 hm6A_associated_SNPs_6457 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000380949.1
547 chr4 6304469 6304469 1 + A G rs1046325 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTGGA < 41bp 1 0.687476143108589 1 0.965812802314758 experiment 0.625047713782823 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 39 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304469 . . 0 hm6A_associated_SNPs_6460 2 Likely benign WFS1-Related Spectrum Disorders RCV000292459.1
548 chr4 6304469 6304469 1 + A G rs1046325 6304451 + 6304431 6304471 41 GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTAGA GAGCCTGACCTTTCTGAGTGACATGGGTGTGCCAGGCTGGA < 41bp 1 0.687476143108589 1 0.965812802314758 experiment 0.625047713782823 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 39 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304451 chr4:6304469 . . 0 hm6A_associated_SNPs_6460 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000408026.1
549 chr4 6304469 6304469 1 + A G rs1046325 6304471 + 6304451 6304491 41 ACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTG ACATGGGTGTGCCAGGCTGGACTAGGAGGTTCCGGTGTCTG < 41bp 1 0.769410656455956 1 0.962639272212982 experiment 0.461178687088089 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304471 chr4:6304469 . . 0 hm6A_associated_SNPs_6461 2 Likely benign WFS1-Related Spectrum Disorders RCV000292459.1
550 chr4 6304469 6304469 1 + A G rs1046325 6304471 + 6304451 6304491 41 ACATGGGTGTGCCAGGCTAGACTAGGAGGTTCCGGTGTCTG ACATGGGTGTGCCAGGCTGGACTAGGAGGTTCCGGTGTCTG < 41bp 1 0.769410656455956 1 0.962639272212982 experiment 0.461178687088089 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304471 chr4:6304469 . . 0 hm6A_associated_SNPs_6461 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000408026.1
551 chr4 6304832 6304832 1 + T C rs71528901 6304850 + 6304830 6304870 41 TCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCT TCCTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCT < 41bp 1 0.705460796095828 1 0.930732607841492 experiment 0.589078407808344 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 3 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304850 chr4:6304832 . . 0 hm6A_associated_SNPs_6463 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000270540.1
552 chr4 6304832 6304832 1 + T C rs71528901 6304850 + 6304830 6304870 41 TCTTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCT TCCTGCCTGAATCCATCAGGACTTGGGAAACAGAGAACCCT < 41bp 1 0.705460796095828 1 0.930732607841492 experiment 0.589078407808344 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 3 WFS1 ENSG00000109501 UTR3 Human protein_coding chr4:6304850 chr4:6304832 . . 0 hm6A_associated_SNPs_6463 2 Likely benign WFS1-Related Spectrum Disorders RCV000362796.1
553 chr4 56236362 56236362 1 + T A rs116416011 56236360 + 56236340 56236380 41 TTTCAGCAAAGCTGTTTGAAACTCTCCATTCCATTTCTATA TTTCAGCAAAGCTGTTTGAAACACTCCATTCCATTTCTATA < 41bp 1 0.681894775917301 1 0.82546865940094 experiment 0.636210448165398 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 23 SRD5A3-AS1 ENSG00000249700 ncRNA_intronic Human processed_transcript chr4:56236360 chr4:56236362 . . 0 hm6A_associated_SNPs_6648 1 Uncertain significance Congenital disorder of glycosylation RCV000403365.1
554 chr4 56885581 56885581 1 + T C rs61753870 56885587 + 56885567 56885607 41 AAACAACTTTCAAATGAGAGACATACAGTTAAAAACCTCGA AAACAACTTTCAAACGAGAGACATACAGTTAAAAACCTCGA < 41bp 1 0.592690804484011 1 0.395019173622131 experiment 0.814618391031978 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 15 CEP135 ENSG00000174799 CDS Human protein_coding chr4:56885587 chr4:56885581 synonymous SNV . 0 hm6A_associated_SNPs_6654 1 Likely benign not specified RCV000116674.2
555 chr4 57356558 57356558 1 + T C rs73818109 57356542 + 57356522 57356562 41 CTTGATAAGAGAAGCTGCAAACTTCAAACTCAAATATGGGC CTTGATAAGAGAAGCTGCAAACTTCAAACTCAAATACGGGC < 41bp 1 0.3914977076718 1 0.181707501411438 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 37 SRP72 ENSG00000174780 CDS Human protein_coding chr4:57356542 chr4:57356558 synonymous SNV . 0 hm6A_associated_SNPs_6661 1 Likely benign Bone marrow failure syndrome 1 RCV000350488.1
556 chr4 57361532 57361532 1 + T C rs202073540 57361523 + 57361503 57361543 41 ATTTTTTTTTCTCTTTGTAGACAGGGAGATTTGAAAAAGAA ATTTTTTTTTCTCTTTGTAGACAGGGAGACTTGAAAAAGAA < 41bp 1 0.502654903355725 1 0.0449165403842926 experiment 0.99469019328855 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 SRP72 ENSG00000174780 CDS Human protein_coding chr4:57361523 chr4:57361532 synonymous SNV . 0 hm6A_associated_SNPs_6662 1 Likely benign Bone marrow failure syndrome 1 RCV000391409.1
557 chr4 57368807 57368807 1 + C T rs10518 57368804 + 57368784 57368824 41 TGTAAGAAGTTCACTCTTAGACCCAGTGTTCTGAGGTCACA TGTAAGAAGTTCACTCTTAGACCTAGTGTTCTGAGGTCACA < 41bp 1 0.118174583865784 1 0.569375336170197 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 SRP72 ENSG00000174780 UTR3 Human protein_coding chr4:57368804 chr4:57368807 . . 0 hm6A_associated_SNPs_6666 1 Benign Bone marrow failure syndrome 1 RCV000273854.1
558 chr4 77660299 77660299 1 + T G rs61999292 77660297 + 77660277 77660317 41 CTCAGCAGAGTATGAGGTGAACTCTTCAGCCCTGCTGCTTC CTCAGCAGAGTATGAGGTGAACGCTTCAGCCCTGCTGCTTC Direct Loss 1 0.722600185824526 1 0.87817370891571 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control 23 SHROOM3 ENSG00000138771 CDS Human protein_coding chr4:77660297 chr4:77660299 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_6728 1 Benign not specified RCV000455435.1
559 chr4 106155185 106155185 1 + C G rs12498609 106155183 + 106155163 106155203 41 CCTCCCATTTGCCAGACAGAACCTCTGGCTACAAAGCTCCA CCTCCCATTTGCCAGACAGAACGTCTGGCTACAAAGCTCCA Direct Loss 1 0.693265917246569 1 0.420673906803131 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 TET2 ENSG00000168769 CDS Human protein_coding chr4:106155183 chr4:106155185 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_6811 1 not provided not specified RCV000122131.1
560 chr4 106155199 106155199 1 + C T rs111948941 106155183 + 106155163 106155203 41 CCTCCCATTTGCCAGACAGAACCTCTGGCTACAAAGCTCCA CCTCCCATTTGCCAGACAGAACCTCTGGCTACAAAGTTCCA < 41bp 1 0.538315994853956 1 0.484585970640182 experiment 0.923368010292088 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 TET2 ENSG00000168769 CDS Human protein_coding chr4:106155183 chr4:106155199 nonsynonymous SNV 0.979 1 hm6A_associated_SNPs_6812 1 not provided not specified RCV000122123.1
561 chr4 113568544 113568544 1 + G A rs62317770 113568547 + 113568527 113568567 41 AAAGAAAAAGAAAAAACGGGACAGAGTTGAAGCATCTAGCT AAAGAAAAAGAAAAAACAGGACAGAGTTGAAGCATCTAGCT < 41bp 1 0.693952473001882 1 0.997070074081421 experiment 0.612095053996236 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 LARP7 ENSG00000174720 CDS Human protein_coding chr4:113568547 chr4:113568544 nonsynonymous SNV 0.285 0 hm6A_associated_SNPs_6835 1 Likely benign not specified RCV000117487.2
562 chr4 114239726 114239726 1 + C A rs189563238 114239740 + 114239720 114239760 41 CTGGGGCACTGAGAACTTAGACAACGTGGCTCTTTCTTCTA CTGGGGAACTGAGAACTTAGACAACGTGGCTCTTTCTTCTA < 41bp 1 0.347884135257258 1 0.518805384635925 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 ANK2 ENSG00000145362 CDS Human protein_coding chr4:114239740 chr4:114239726 synonymous SNV . 0 hm6A_associated_SNPs_6839 1 Uncertain significance Long QT syndrome RCV000379625.1
563 chr4 123664919 123664919 1 + A G rs13102440 123664930 + 123664910 123664950 41 TCATCTGCAAAATGCCACAGACTCTGGCTCTCCTTCATCTT TCATCTGCAGAATGCCACAGACTCTGGCTCTCCTTCATCTT < 41bp 1 0.729928998865844 1 0.814164578914642 experiment 0.540142002268313 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control 10 BBS12 ENSG00000181004 CDS Human protein_coding chr4:123664930 chr4:123664919 synonymous SNV . 0 hm6A_associated_SNPs_6869 2 Benign not specified RCV000152835.4
564 chr4 123664919 123664919 1 + A G rs13102440 123664930 + 123664910 123664950 41 TCATCTGCAAAATGCCACAGACTCTGGCTCTCCTTCATCTT TCATCTGCAGAATGCCACAGACTCTGGCTCTCCTTCATCTT < 41bp 1 0.729928998865844 1 0.814164578914642 experiment 0.540142002268313 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control 10 BBS12 ENSG00000181004 CDS Human protein_coding chr4:123664930 chr4:123664919 synonymous SNV . 0 hm6A_associated_SNPs_6869 2 Likely benign Bardet-Biedl syndrome RCV000264109.1
565 chr4 126241720 126241720 1 + T C rs139883132 126241702 + 126241682 126241722 41 TTTTCTTGCCAAAAAACTGGACTTTGAAACACAGTCTTTGT TTTTCTTGCCAAAAAACTGGACTTTGAAACACAGTCTTCGT < 41bp 1 0.574552151537623 1 0.996804714202881 experiment 0.850895696924753 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 39 FAT4 ENSG00000196159 CDS Human protein_coding chr4:126241702 chr4:126241720 nonsynonymous SNV 0.999 0 hm6A_associated_SNPs_6870 1 Likely benign not specified RCV000419023.1
566 chr4 126370757 126370757 1 + G A rs111758803 126370771 + 126370751 126370791 41 ATTTGTGACAGACATCAATGACAATGCTCCAAGATTTAGCA ATTTGTAACAGACATCAATGACAATGCTCCAAGATTTAGCA < 41bp 1 0.749656023412231 1 0.44993594288826 experiment 0.500687953175537 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 FAT4 ENSG00000196159 CDS Human protein_coding chr4:126370771 chr4:126370757 synonymous SNV . 0 hm6A_associated_SNPs_6871 1 Benign not specified RCV000419263.1
567 chr4 140394267 140394267 1 + C T rs139823051 140394284 + 140394264 140394304 41 TGACGTGCTGGTGCTAAATAACAGTCTTTATTATATTATCT TGATGTGCTGGTGCTAAATAACAGTCTTTATTATATTATCT < 41bp 1 0.739523656213737 1 0.795698881149292 experiment 0.520952687572526 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 RAB33B ENSG00000172007 CDS Human protein_coding chr4:140394284 chr4:140394267 nonsynonymous SNV 0.469 1 hm6A_associated_SNPs_6907 1 Uncertain significance Smith-McCort dysplasia RCV000389054.1
568 chr4 159627845 159627845 1 + T C rs77484245 159627848 + 159627828 159627868 41 GAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTT GAGTATCCAAAACCCGACGGACAGATCAGTTTTGACCTCTT < 41bp 1 0.743372370154423 1 0.987966656684875 experiment 0.513255259691154 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627848 chr4:159627845 synonymous SNV . 0 hm6A_associated_SNPs_6963 2 Benign not specified RCV000124920.3
569 chr4 159627845 159627845 1 + T C rs77484245 159627848 + 159627828 159627868 41 GAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTT GAGTATCCAAAACCCGACGGACAGATCAGTTTTGACCTCTT < 41bp 1 0.743372370154423 1 0.987966656684875 experiment 0.513255259691154 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627848 chr4:159627845 synonymous SNV . 0 hm6A_associated_SNPs_6963 2 Likely benign Glutaric aciduria, type 2 RCV000332982.1
570 chr4 169847648 169847648 1 + A T rs542531106 169847634 + 169847614 169847654 41 AAGGCAGAAACATACCTTTGACTATAAGAAATTAAAAAAAA AAGGCAGAAACATACCTTTGACTATAAGAAATTATAAAAAA < 41bp 1 0.526794623096201 1 0.956623256206512 experiment 0.946410753807599 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 35 PALLD ENSG00000129116 UTR3 Human protein_coding chr4:169847634 chr4:169847648 . . 0 hm6A_associated_SNPs_6979 1 Likely benign Carcinoma of pancreas RCV000381767.1
571 chr4 169848925 169848925 1 + T C rs148023504 169848923 + 169848903 169848943 41 ACTGAGTTGATTCTGACCAGACTTGATGGTTTTAAGTCGGA ACTGAGTTGATTCTGACCAGACCTGATGGTTTTAAGTCGGA < 41bp 1 0.0797597067162189 1 0.0676479935646057 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 23 PALLD ENSG00000129116 UTR3 Human protein_coding chr4:169848923 chr4:169848925 . . 0 hm6A_associated_SNPs_6980 1 Likely benign Carcinoma of pancreas RCV000357157.1
572 chr5 218467 218467 1 + A G rs377134185 218448 + 218428 218468 41 TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCAG TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCGG < 41bp 1 0.493682536736628 1 0.897720336914062 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218448 chr5:218467 . . 0 hm6A_associated_SNPs_7037 4 Benign not specified RCV000251091.2
573 chr5 218467 218467 1 + A G rs377134185 218448 + 218428 218468 41 TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCAG TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCGG < 41bp 1 0.493682536736628 1 0.897720336914062 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218448 chr5:218467 . . 0 hm6A_associated_SNPs_7037 4 Likely benign Leigh syndrome RCV000266213.1
574 chr5 218467 218467 1 + A G rs377134185 218448 + 218428 218468 41 TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCAG TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCGG < 41bp 1 0.493682536736628 1 0.897720336914062 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218448 chr5:218467 . . 0 hm6A_associated_SNPs_7037 4 Likely benign Mitochondrial complex II deficiency RCV000323529.1
575 chr5 218467 218467 1 + A G rs377134185 218448 + 218428 218468 41 TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCAG TCTGCGCAGGGACTGGCGGGACTGCGCGGCGGCAACAGCGG < 41bp 1 0.493682536736628 1 0.897720336914062 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218448 chr5:218467 . . 0 hm6A_associated_SNPs_7037 4 Likely benign Pheochromocytoma RCV000358590.1
576 chr5 218467 218467 1 + A G rs377134185 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCGGACATGTCGGGGGTCCGGGGCC < 41bp 1 0.379686576452812 1 0.88217830657959 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218469 chr5:218467 . . 0 hm6A_associated_SNPs_7038 4 Benign not specified RCV000251091.2
577 chr5 218467 218467 1 + A G rs377134185 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCGGACATGTCGGGGGTCCGGGGCC < 41bp 1 0.379686576452812 1 0.88217830657959 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218469 chr5:218467 . . 0 hm6A_associated_SNPs_7038 4 Likely benign Leigh syndrome RCV000266213.1
578 chr5 218467 218467 1 + A G rs377134185 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCGGACATGTCGGGGGTCCGGGGCC < 41bp 1 0.379686576452812 1 0.88217830657959 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218469 chr5:218467 . . 0 hm6A_associated_SNPs_7038 4 Likely benign Mitochondrial complex II deficiency RCV000323529.1
579 chr5 218467 218467 1 + A G rs377134185 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCGGACATGTCGGGGGTCCGGGGCC < 41bp 1 0.379686576452812 1 0.88217830657959 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 SDHA ENSG00000073578 UTR5 Human protein_coding chr5:218469 chr5:218467 . . 0 hm6A_associated_SNPs_7038 4 Likely benign Pheochromocytoma RCV000358590.1
580 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 Benign Mitochondrial complex II deficiency RCV000210499.3
581 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 Benign Paragangliomas 5 RCV000210499.3
582 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 other not specified RCV000216190.3
583 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 Likely benign not provided RCV000224380.1
584 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 Likely benign Pheochromocytoma RCV000282383.1
585 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 Likely benign Leigh syndrome RCV000349064.1
586 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 Likely benign Mitochondrial complex II deficiency RCV000374489.1
587 chr5 218487 218487 1 + G A rs187964306 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGACC < 41bp 1 0.359858169562055 1 0.836465716362 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218487 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_7039 8 Benign Paragangliomas 5 RCV000411625.1
588 chr5 223646 223646 1 + A T rs34635677 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAG < 41bp 1 0.761337381539262 1 0.0709662139415741 experiment 0.477325236921477 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 15 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223646 nonsynonymous SNV 0.832 0 hm6A_associated_SNPs_7040 6 Benign Mitochondrial complex II deficiency RCV000210535.2
589 chr5 223646 223646 1 + A T rs34635677 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAG < 41bp 1 0.761337381539262 1 0.0709662139415741 experiment 0.477325236921477 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 15 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223646 nonsynonymous SNV 0.832 0 hm6A_associated_SNPs_7040 6 Benign Paragangliomas 5 RCV000210535.2
590 chr5 223646 223646 1 + A T rs34635677 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAG < 41bp 1 0.761337381539262 1 0.0709662139415741 experiment 0.477325236921477 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 15 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223646 nonsynonymous SNV 0.832 0 hm6A_associated_SNPs_7040 6 Benign not specified RCV000245657.1
591 chr5 223646 223646 1 + A T rs34635677 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAG < 41bp 1 0.761337381539262 1 0.0709662139415741 experiment 0.477325236921477 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 15 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223646 nonsynonymous SNV 0.832 0 hm6A_associated_SNPs_7040 6 Likely benign Pheochromocytoma RCV000295347.1
592 chr5 223646 223646 1 + A T rs34635677 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAG < 41bp 1 0.761337381539262 1 0.0709662139415741 experiment 0.477325236921477 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 15 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223646 nonsynonymous SNV 0.832 0 hm6A_associated_SNPs_7040 6 Likely benign Leigh syndrome RCV000352522.1
593 chr5 223646 223646 1 + A T rs34635677 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGTTGGGAACAAGAGGGCATCTGCTAAAG < 41bp 1 0.761337381539262 1 0.0709662139415741 experiment 0.477325236921477 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 15 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223646 nonsynonymous SNV 0.832 0 hm6A_associated_SNPs_7040 6 Likely benign Mitochondrial complex II deficiency RCV000387287.1
594 chr5 223669 223669 1 + A G rs144599870 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTGAAG < 41bp 1 0.765305652662827 1 0.12660413980484 experiment 0.469388694674347 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 38 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223669 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_7041 4 Likely benign Mitochondrial complex II deficiency RCV000210526.3
595 chr5 223669 223669 1 + A G rs144599870 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTGAAG < 41bp 1 0.765305652662827 1 0.12660413980484 experiment 0.469388694674347 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 38 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223669 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_7041 4 Likely benign Paragangliomas 5 RCV000210526.3
596 chr5 223669 223669 1 + A G rs144599870 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTGAAG < 41bp 1 0.765305652662827 1 0.12660413980484 experiment 0.469388694674347 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 38 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223669 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_7041 4 Likely benign not specified RCV000250106.2
597 chr5 223669 223669 1 + A G rs144599870 223652 + 223632 223672 41 TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTAAAG TCACTTCACTGTTGATGGGAACAAGAGGGCATCTGCTGAAG < 41bp 1 0.765305652662827 1 0.12660413980484 experiment 0.469388694674347 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 38 SDHA ENSG00000073578 CDS Human protein_coding chr5:223652 chr5:223669 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_7041 4 Uncertain significance Paragangliomas 5 RCV000410409.1
598 chr5 235364 235364 1 + C T rs35277230 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTTGCTGGC < 41bp 1 0.611808955309464 1 0.933098554611206 experiment 0.776382089381071 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 35 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235364 synonymous SNV . 0 hm6A_associated_SNPs_7042 7 other not specified RCV000118312.4
599 chr5 235364 235364 1 + C T rs35277230 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTTGCTGGC < 41bp 1 0.611808955309464 1 0.933098554611206 experiment 0.776382089381071 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 35 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235364 synonymous SNV . 0 hm6A_associated_SNPs_7042 7 Benign Hereditary cancer-predisposing syndrome RCV000163257.1
600 chr5 235364 235364 1 + C T rs35277230 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTTGCTGGC < 41bp 1 0.611808955309464 1 0.933098554611206 experiment 0.776382089381071 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 35 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235364 synonymous SNV . 0 hm6A_associated_SNPs_7042 7 Likely benign Pheochromocytoma RCV000285173.1
601 chr5 235364 235364 1 + C T rs35277230 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTTGCTGGC < 41bp 1 0.611808955309464 1 0.933098554611206 experiment 0.776382089381071 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 35 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235364 synonymous SNV . 0 hm6A_associated_SNPs_7042 7 Likely benign Mitochondrial complex II deficiency RCV000321449.1
602 chr5 235364 235364 1 + C T rs35277230 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTTGCTGGC < 41bp 1 0.611808955309464 1 0.933098554611206 experiment 0.776382089381071 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 35 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235364 synonymous SNV . 0 hm6A_associated_SNPs_7042 7 Likely benign Leigh syndrome RCV000379943.1
603 chr5 235364 235364 1 + C T rs35277230 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTTGCTGGC < 41bp 1 0.611808955309464 1 0.933098554611206 experiment 0.776382089381071 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 35 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235364 synonymous SNV . 0 hm6A_associated_SNPs_7042 7 Benign Mitochondrial complex II deficiency RCV000470511.1
604 chr5 235364 235364 1 + C T rs35277230 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTTGCTGGC < 41bp 1 0.611808955309464 1 0.933098554611206 experiment 0.776382089381071 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 35 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235364 synonymous SNV . 0 hm6A_associated_SNPs_7042 7 Benign Paragangliomas 5 RCV000470511.1
605 chr5 240563 240563 1 + C T rs151266052 240562 + 240542 240582 41 TTGCTGATGGAAGCATAAGAACATCGGAACTGCGACTCAGC TTGCTGATGGAAGCATAAGAATATCGGAACTGCGACTCAGC Direct Loss 1 0.774960688923786 1 0.648291110992432 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 22 SDHA ENSG00000073578 CDS Human protein_coding chr5:240562 chr5:240563 nonsynonymous SNV 0.697 1 hm6A_associated_SNPs_7043 3 Pathogenic Mitochondrial complex II deficiency RCV000032785.3
606 chr5 240563 240563 1 + C T rs151266052 240562 + 240542 240582 41 TTGCTGATGGAAGCATAAGAACATCGGAACTGCGACTCAGC TTGCTGATGGAAGCATAAGAATATCGGAACTGCGACTCAGC Direct Loss 1 0.774960688923786 1 0.648291110992432 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 22 SDHA ENSG00000073578 CDS Human protein_coding chr5:240562 chr5:240563 nonsynonymous SNV 0.697 1 hm6A_associated_SNPs_7043 3 Likely benign Mitochondrial complex II deficiency RCV000232220.2
607 chr5 240563 240563 1 + C T rs151266052 240562 + 240542 240582 41 TTGCTGATGGAAGCATAAGAACATCGGAACTGCGACTCAGC TTGCTGATGGAAGCATAAGAATATCGGAACTGCGACTCAGC Direct Loss 1 0.774960688923786 1 0.648291110992432 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 22 SDHA ENSG00000073578 CDS Human protein_coding chr5:240562 chr5:240563 nonsynonymous SNV 0.697 1 hm6A_associated_SNPs_7043 3 Likely benign Paragangliomas 5 RCV000232220.2
608 chr5 256509 256509 1 + G A rs6962 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCATCCCGCCAG < 41bp 1 0.717039770312098 1 0.928640484809875 experiment 0.565920459375805 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256509 nonsynonymous SNV 0.257 0 hm6A_associated_SNPs_7044 5 other not specified RCV000118317.3
609 chr5 256509 256509 1 + G A rs6962 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCATCCCGCCAG < 41bp 1 0.717039770312098 1 0.928640484809875 experiment 0.565920459375805 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256509 nonsynonymous SNV 0.257 0 hm6A_associated_SNPs_7044 5 Benign Hereditary cancer-predisposing syndrome RCV000162484.1
610 chr5 256509 256509 1 + G A rs6962 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCATCCCGCCAG < 41bp 1 0.717039770312098 1 0.928640484809875 experiment 0.565920459375805 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256509 nonsynonymous SNV 0.257 0 hm6A_associated_SNPs_7044 5 Likely benign Mitochondrial complex II deficiency RCV000269248.1
611 chr5 256509 256509 1 + G A rs6962 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCATCCCGCCAG < 41bp 1 0.717039770312098 1 0.928640484809875 experiment 0.565920459375805 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256509 nonsynonymous SNV 0.257 0 hm6A_associated_SNPs_7044 5 Likely benign Leigh syndrome RCV000309260.1
612 chr5 256509 256509 1 + G A rs6962 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCATCCCGCCAG < 41bp 1 0.717039770312098 1 0.928640484809875 experiment 0.565920459375805 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256509 nonsynonymous SNV 0.257 0 hm6A_associated_SNPs_7044 5 Likely benign Pheochromocytoma RCV000363917.1
613 chr5 7885959 7885959 1 + A G rs162036 7885953 + 7885933 7885973 41 CCTTTTGAAAATAAAGGCAGACACAAAGAAGAAAGGTAACA CCTTTTGAAAATAAAGGCAGACACAAGGAAGAAAGGTAACA < 41bp 1 0.528039120218144 1 0.956787884235382 experiment 0.943921759563713 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 27 MTRR ENSG00000124275 CDS Human protein_coding chr5:7885953 chr5:7885959 nonsynonymous SNV 0.975 0 hm6A_associated_SNPs_7112 3 Benign not specified RCV000126870.2
614 chr5 7885959 7885959 1 + A G rs162036 7885953 + 7885933 7885973 41 CCTTTTGAAAATAAAGGCAGACACAAAGAAGAAAGGTAACA CCTTTTGAAAATAAAGGCAGACACAAGGAAGAAAGGTAACA < 41bp 1 0.528039120218144 1 0.956787884235382 experiment 0.943921759563713 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 27 MTRR ENSG00000124275 CDS Human protein_coding chr5:7885953 chr5:7885959 nonsynonymous SNV 0.975 0 hm6A_associated_SNPs_7112 3 Uncertain significance Gastrointestinal stromal tumor RCV000144925.1
615 chr5 7885959 7885959 1 + A G rs162036 7885953 + 7885933 7885973 41 CCTTTTGAAAATAAAGGCAGACACAAAGAAGAAAGGTAACA CCTTTTGAAAATAAAGGCAGACACAAGGAAGAAAGGTAACA < 41bp 1 0.528039120218144 1 0.956787884235382 experiment 0.943921759563713 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 27 MTRR ENSG00000124275 CDS Human protein_coding chr5:7885953 chr5:7885959 nonsynonymous SNV 0.975 0 hm6A_associated_SNPs_7112 3 Benign Disorders of Intracellular Cobalamin Metabolism RCV000317483.1
616 chr5 7891506 7891506 1 + C G rs16879334 7891486 + 7891466 7891506 41 TGTTTTTATTTTTTTCTAGAACATCTTCCTAAACTTCAACC TGTTTTTATTTTTTTCTAGAACATCTTCCTAAACTTCAACG < 41bp 1 0.693214112256511 1 0.227210134267807 experiment 0.613571775486978 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 41 MTRR ENSG00000124275 CDS Human protein_coding chr5:7891486 chr5:7891506 nonsynonymous SNV 0.930 4 hm6A_associated_SNPs_7113 2 Benign not specified RCV000126874.2
617 chr5 7891506 7891506 1 + C G rs16879334 7891486 + 7891466 7891506 41 TGTTTTTATTTTTTTCTAGAACATCTTCCTAAACTTCAACC TGTTTTTATTTTTTTCTAGAACATCTTCCTAAACTTCAACG < 41bp 1 0.693214112256511 1 0.227210134267807 experiment 0.613571775486978 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 41 MTRR ENSG00000124275 CDS Human protein_coding chr5:7891486 chr5:7891506 nonsynonymous SNV 0.930 4 hm6A_associated_SNPs_7113 2 Likely benign Disorders of Intracellular Cobalamin Metabolism RCV000382140.1
618 chr5 10254817 10254817 1 + A G rs2578617 10254824 + 10254804 10254844 41 TGGATAAGGATGGAGATGTGACTGTAACTAATGATGGGGCC TGGATAAGGATGGGGATGTGACTGTAACTAATGATGGGGCC < 41bp 1 0.280273217428737 1 0.916811347007751 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 14 CCT5 ENSG00000150753 CDS Human protein_coding chr5:10254824 chr5:10254817 synonymous SNV . 0 hm6A_associated_SNPs_7118 1 Benign Sensory Neuropathy with Spastic Paraplegia RCV000292326.1
619 chr5 35876449 35876449 1 + C T rs2229232 35876436 + 35876416 35876456 41 ACCTCCTGCTTAGCCTTGGGACTACAAACAGCACGCTGCCC ACCTCCTGCTTAGCCTTGGGACTACAAACAGCATGCTGCCC < 41bp 1 0.780213673747463 1 0.765839695930481 experiment 0.439572652505073 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 34 IL7R ENSG00000168685 CDS Human protein_coding chr5:35876436 chr5:35876449 nonsynonymous SNV 0.000 2 hm6A_associated_SNPs_7227 2 Benign not specified RCV000121225.2
620 chr5 35876449 35876449 1 + C T rs2229232 35876436 + 35876416 35876456 41 ACCTCCTGCTTAGCCTTGGGACTACAAACAGCACGCTGCCC ACCTCCTGCTTAGCCTTGGGACTACAAACAGCATGCTGCCC < 41bp 1 0.780213673747463 1 0.765839695930481 experiment 0.439572652505073 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 34 IL7R ENSG00000168685 CDS Human protein_coding chr5:35876436 chr5:35876449 nonsynonymous SNV 0.000 2 hm6A_associated_SNPs_7227 2 Likely benign Severe Combined Immune Deficiency RCV000288456.1
621 chr5 35877759 35877759 1 + G A rs16902514 35877770 + 35877750 35877790 41 AGCAATAGAGGCTGCCACAAACTTCAGGGAGAAAGAGTTAC AGCAATAGAAGCTGCCACAAACTTCAGGGAGAAAGAGTTAC < 41bp 1 0.159285644057429 1 0.945799589157104 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 10 IL7R ENSG00000168685 UTR3 Human protein_coding chr5:35877770 chr5:35877759 . . 0 hm6A_associated_SNPs_7228 1 Likely benign Severe Combined Immune Deficiency RCV000381957.1
622 chr5 35877914 35877914 1 + A G rs10491434 35877896 + 35877876 35877916 41 TCTTGCCTTTCTTGGTCTAGACTGACTTCTAATGACTAACT TCTTGCCTTTCTTGGTCTAGACTGACTTCTAATGACTAGCT < 41bp 1 0.399106067997559 1 0.930362284183502 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 39 IL7R ENSG00000168685 UTR3 Human protein_coding chr5:35877896 chr5:35877914 . . 0 hm6A_associated_SNPs_7231 1 Benign Severe Combined Immune Deficiency RCV000293662.1
623 chr5 35877914 35877914 1 + A G rs10491434 35877900 + 35877880 35877920 41 GCCTTTCTTGGTCTAGACTGACTTCTAATGACTAACTCAAA GCCTTTCTTGGTCTAGACTGACTTCTAATGACTAGCTCAAA < 41bp 1 0.541386169289034 1 0.884236216545105 experiment 0.917227661421931 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 35 IL7R ENSG00000168685 UTR3 Human protein_coding chr5:35877900 chr5:35877914 . . 0 hm6A_associated_SNPs_7232 1 Benign Severe Combined Immune Deficiency RCV000293662.1
624 chr5 35877914 35877914 1 + A G rs10491434 35877910 + 35877890 35877930 41 GTCTAGACTGACTTCTAATGACTAACTCAAAGTCAAGGCAA GTCTAGACTGACTTCTAATGACTAGCTCAAAGTCAAGGCAA < 41bp 1 0.455946230001624 1 0.786492109298706 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 25 IL7R ENSG00000168685 UTR3 Human protein_coding chr5:35877910 chr5:35877914 . . 0 hm6A_associated_SNPs_7233 1 Benign Severe Combined Immune Deficiency RCV000293662.1
625 chr5 36677083 36677083 1 + G C rs2032892 36677093 + 36677073 36677113 41 ATGTGTCTGAGGCCATGGAGACTCTTACCCGAATCACAGAG ATGTGTCTGACGCCATGGAGACTCTTACCCGAATCACAGAG < 41bp 1 0.4580326941581 1 0.795825779438019 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 11 SLC1A3 ENSG00000079215 CDS Human protein_coding chr5:36677093 chr5:36677083 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_7241 2 Likely benign not specified RCV000118364.2
626 chr5 36677083 36677083 1 + G C rs2032892 36677093 + 36677073 36677113 41 ATGTGTCTGAGGCCATGGAGACTCTTACCCGAATCACAGAG ATGTGTCTGACGCCATGGAGACTCTTACCCGAATCACAGAG < 41bp 1 0.4580326941581 1 0.795825779438019 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 11 SLC1A3 ENSG00000079215 CDS Human protein_coding chr5:36677093 chr5:36677083 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_7241 2 Benign Episodic ataxia RCV000396581.1
627 chr5 36677218 36677218 1 + G A rs139659178 36677202 + 36677182 36677222 41 CTTCGGTTTTGTGATTGGAAACATGAAGGAACAGGGGCAGG CTTCGGTTTTGTGATTGGAAACATGAAGGAACAGGGACAGG < 41bp 1 0.593971738963893 1 0.213341027498245 experiment 0.812056522072213 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 37 SLC1A3 ENSG00000079215 CDS Human protein_coding chr5:36677202 chr5:36677218 synonymous SNV . 0 hm6A_associated_SNPs_7242 1 Likely benign Episodic ataxia RCV000347052.1
628 chr5 36680556 36680556 1 + G A rs115702388 36680538 + 36680518 36680558 41 CTTCAAGTGCCTGGAAGAGAACAATGGCGTGGACAAGCGCG CTTCAAGTGCCTGGAAGAGAACAATGGCGTGGACAAGCACG < 41bp 1 0.506400226533344 1 0.886651515960693 experiment 0.987199546933313 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 39 SLC1A3 ENSG00000079215 CDS Human protein_coding chr5:36680538 chr5:36680556 nonsynonymous SNV 0.526 4 hm6A_associated_SNPs_7243 1 Likely benign Episodic ataxia RCV000353609.1
629 chr5 36686504 36686504 1 + A G rs6879542 36686517 + 36686497 36686537 41 CTGGAAAATAGTCCTCCAAAACACAAGGGAGGATTTTGGGT CTGGAAAGTAGTCCTCCAAAACACAAGGGAGGATTTTGGGT < 41bp 1 0.635373941908412 1 0.840465128421783 experiment 0.729252116183176 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 8 SLC1A3 ENSG00000250155 ncRNA_intronic Human antisense chr5:36686517 chr5:36686504 . . 0 hm6A_associated_SNPs_7244 1 Benign Episodic ataxia RCV000288852.1
630 chr5 36687065 36687065 1 + T C rs186603216 36687079 + 36687059 36687099 41 GCCCTCTGTTTCCCCTCAGAACACCCTGTACCATCCATGGA GCCCTCCGTTTCCCCTCAGAACACCCTGTACCATCCATGGA < 41bp 1 0.252777539143817 1 0.0866187512874603 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 7 SLC1A3 ENSG00000250155 ncRNA_intronic Human antisense chr5:36687079 chr5:36687065 . . 0 hm6A_associated_SNPs_7245 1 Likely benign Episodic ataxia RCV000303260.1
631 chr5 36687752 36687752 1 + A G rs1803715 36687771 + 36687751 36687791 41 CACTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTT CGCTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTT < 41bp 1 0.0374996861799575 1 0.092983067035675 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 2 SLC1A3 ENSG00000250155 ncRNA_intronic Human antisense chr5:36687771 chr5:36687752 . . 0 hm6A_associated_SNPs_7249 1 Likely benign Episodic ataxia RCV000334523.1
632 chr5 36687786 36687786 1 + G A rs73089449 36687771 + 36687751 36687791 41 CACTTATCAAATCATTCAAAACTTTCAGCTGGAGTGGGGTT CACTTATCAAATCATTCAAAACTTTCAGCTGGAGTAGGGTT < 41bp 1 0.0342735891602649 1 0.0529417395591736 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 36 SLC1A3 ENSG00000250155 ncRNA_intronic Human antisense chr5:36687771 chr5:36687786 . . 0 hm6A_associated_SNPs_7250 1 Benign Episodic ataxia RCV000406250.1
633 chr5 36688027 36688027 1 + G C rs56129258 36688028 + 36688008 36688048 41 CTGAAAATGGTGAAGAATGGACTTAATTATGCTAACAAACT CTGAAAATGGTGAAGAATGCACTTAATTATGCTAACAAACT Direct Loss 1 0.38710738235978 1 0.701636672019958 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 20 SLC1A3 ENSG00000250155 ncRNA_intronic Human antisense chr5:36688028 chr5:36688027 . . 0 hm6A_associated_SNPs_7251 1 Likely benign Episodic ataxia RCV000395003.1
634 chr5 36688118 36688118 1 + G A rs6886600 36688130 + 36688110 36688150 41 CATTCTGTGCATAAAAGTTAACATTAGGCTGTGGTGCAGTA CATTCTGTACATAAAAGTTAACATTAGGCTGTGGTGCAGTA < 41bp 1 0.247101282618884 1 0.00566434860229492 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 9 SLC1A3 ENSG00000250155 ncRNA_intronic Human antisense chr5:36688130 chr5:36688118 . . 0 hm6A_associated_SNPs_7252 1 Likely benign Episodic ataxia RCV000360832.1
635 chr5 36976221 36976221 1 + C T rs80358349 36976241 + 36976221 36976261 41 CATTACTCCACAAGATATAAACCGCCCACTAAATGCTGCTC TATTACTCCACAAGATATAAACCGCCCACTAAATGCTGCTC < 41bp 1 0.520948128532441 1 0.951109647750854 experiment 0.958103742935118 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 NIPBL ENSG00000164190 CDS Human protein_coding chr5:36976241 chr5:36976221 synonymous SNV . 0 hm6A_associated_SNPs_7253 1 Uncertain significance Cornelia de Lange syndrome 1 RCV000086365.2
636 chr5 36986009 36986009 1 + T C rs148394805 36986003 + 36985983 36986023 41 AATAAATCAAGATCTGATAAACTTGGTTTTAAATCACCAAC AATAAATCAAGATCTGATAAACTTGGCTTTAAATCACCAAC < 41bp 1 0.792924370862316 1 0.991783678531647 experiment 0.414151258275367 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 27 NIPBL ENSG00000164190 CDS Human protein_coding chr5:36986003 chr5:36986009 synonymous SNV . 0 hm6A_associated_SNPs_7255 1 Likely benign not specified RCV000321066.1
637 chr5 37059000 37059000 1 + T C rs185745349 37059006 + 37058986 37059026 41 CTTTCAGTCTATGGTAAAGGACAAAAGGAAAGAGAGAAAAT CTTTCAGTCTATGGCAAAGGACAAAAGGAAAGAGAGAAAAT < 41bp 1 0.643546031554063 1 0.905331969261169 experiment 0.712907936891874 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 15 NIPBL ENSG00000164190 CDS Human protein_coding chr5:37059006 chr5:37059000 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7256 1 Uncertain significance not specified RCV000330008.1
638 chr5 52388999 52388999 1 + C A rs1900182 52389002 + 52388982 52389022 41 CTTTTCAATGTGCTATACAAACAATTATAGCACATCCTTCC CTTTTCAATGTGCTATAAAAACAATTATAGCACATCCTTCC < 41bp 1 0.189506258542961 1 0.000174403190612793 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 18 ITGA2 ENSG00000164171 UTR3 Human protein_coding chr5:52389002 chr5:52388999 . . 0 hm6A_associated_SNPs_7294 2 Likely benign Platelet-type bleeding disorder 9 RCV000271435.1
639 chr5 52388999 52388999 1 + C A rs1900182 52389002 + 52388982 52389022 41 CTTTTCAATGTGCTATACAAACAATTATAGCACATCCTTCC CTTTTCAATGTGCTATAAAAACAATTATAGCACATCCTTCC < 41bp 1 0.189506258542961 1 0.000174403190612793 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 18 ITGA2 ENSG00000164171 UTR3 Human protein_coding chr5:52389002 chr5:52388999 . . 0 hm6A_associated_SNPs_7294 2 Likely benign Molybdenum cofactor deficiency RCV000391037.1
640 chr5 52389003 52389003 1 + C G rs75427194 52389002 + 52388982 52389022 41 CTTTTCAATGTGCTATACAAACAATTATAGCACATCCTTCC CTTTTCAATGTGCTATACAAAGAATTATAGCACATCCTTCC Direct Loss 1 0.177182177316004 1 0.000216066837310791 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 22 ITGA2 ENSG00000164171 UTR3 Human protein_coding chr5:52389002 chr5:52389003 . . 0 hm6A_associated_SNPs_7295 2 Likely benign Molybdenum cofactor deficiency RCV000338791.1
641 chr5 52389003 52389003 1 + C G rs75427194 52389002 + 52388982 52389022 41 CTTTTCAATGTGCTATACAAACAATTATAGCACATCCTTCC CTTTTCAATGTGCTATACAAAGAATTATAGCACATCCTTCC Direct Loss 1 0.177182177316004 1 0.000216066837310791 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 22 ITGA2 ENSG00000164171 UTR3 Human protein_coding chr5:52389002 chr5:52389003 . . 0 hm6A_associated_SNPs_7295 2 Benign Platelet-type bleeding disorder 9 RCV000381194.1
642 chr5 60241142 60241142 1 + G A rs158921 60241159 + 60241139 60241179 41 GAAGGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT GAAAGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT < 41bp 1 0.319983913995969 1 0.996133804321289 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 NDUFAF2 ENSG00000164182 CDS Human protein_coding chr5:60241159 chr5:60241142 synonymous SNV . 0 hm6A_associated_SNPs_7322 4 Likely benign not specified RCV000117705.2
643 chr5 60241142 60241142 1 + G A rs158921 60241159 + 60241139 60241179 41 GAAGGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT GAAAGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT < 41bp 1 0.319983913995969 1 0.996133804321289 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 NDUFAF2 ENSG00000164182 CDS Human protein_coding chr5:60241159 chr5:60241142 synonymous SNV . 0 hm6A_associated_SNPs_7322 4 Benign Cockayne syndrome RCV000278856.1
644 chr5 60241142 60241142 1 + G A rs158921 60241159 + 60241139 60241179 41 GAAGGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT GAAAGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT < 41bp 1 0.319983913995969 1 0.996133804321289 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 NDUFAF2 ENSG00000164182 CDS Human protein_coding chr5:60241159 chr5:60241142 synonymous SNV . 0 hm6A_associated_SNPs_7322 4 Benign Mitochondrial complex I deficiency RCV000290995.1
645 chr5 60241142 60241142 1 + G A rs158921 60241159 + 60241139 60241179 41 GAAGGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT GAAAGAGCACGTGGGCACGGACCAATTCGGGAACAAATACT < 41bp 1 0.319983913995969 1 0.996133804321289 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 NDUFAF2 ENSG00000164182 CDS Human protein_coding chr5:60241159 chr5:60241142 synonymous SNV . 0 hm6A_associated_SNPs_7322 4 Benign Leigh syndrome RCV000348449.1
646 chr5 67522722 67522722 1 + C T rs706713 67522706 + 67522686 67522726 41 AACCACAGGGGAAAGGGGGGACTTTCCGGGAACTTACGTAG AACCACAGGGGAAAGGGGGGACTTTCCGGGAACTTATGTAG < 41bp 1 0.646688122476541 1 0.977990627288818 experiment 0.706623755046918 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 37 PIK3R1 ENSG00000145675 CDS Human protein_coding chr5:67522706 chr5:67522722 synonymous SNV . 0 hm6A_associated_SNPs_7359 1 other not specified RCV000147276.1
647 chr5 67522722 67522722 1 + C T rs706713 67522717 + 67522697 67522737 41 AAAGGGGGGACTTTCCGGGAACTTACGTAGAATATATTGGA AAAGGGGGGACTTTCCGGGAACTTATGTAGAATATATTGGA < 41bp 1 0.495954871653241 1 0.976465821266174 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 26 PIK3R1 ENSG00000145675 CDS Human protein_coding chr5:67522717 chr5:67522722 synonymous SNV . 0 hm6A_associated_SNPs_7360 1 other not specified RCV000147276.1
648 chr5 70953213 70953213 1 + C T rs181669670 70953206 + 70953186 70953226 41 ACTGAAACTATACCATTCAAACAACAGCGCTCCCCATTTCC ACTGAAACTATACCATTCAAACAACAGTGCTCCCCATTTCC < 41bp 1 0.310210009442798 1 0.0230982899665833 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 28 MCCC2 ENSG00000131844 UTR3 Human protein_coding chr5:70953206 chr5:70953213 . . 0 hm6A_associated_SNPs_7388 1 Uncertain significance 3-MCC Deficiency RCV000381334.1
649 chr5 70953264 70953264 1 + T A rs150412501 70953275 + 70953255 70953295 41 ATTATTATTTTTTTTTTGAGACAGGGTGTTTCTCTGTTGCC ATTATTATTATTTTTTTGAGACAGGGTGTTTCTCTGTTGCC < 41bp 1 0.209317546896818 1 0.00164246559143066 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 10 MCCC2 ENSG00000131844 UTR3 Human protein_coding chr5:70953275 chr5:70953264 . . 0 hm6A_associated_SNPs_7389 1 Uncertain significance 3-MCC Deficiency RCV000341967.1
650 chr5 70953280 70953280 1 + G T rs60069076 70953275 + 70953255 70953295 41 ATTATTATTTTTTTTTTGAGACAGGGTGTTTCTCTGTTGCC ATTATTATTTTTTTTTTGAGACAGGTTGTTTCTCTGTTGCC < 41bp 1 0.190327973845605 1 0.00328937172889709 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 26 MCCC2 ENSG00000131844 UTR3 Human protein_coding chr5:70953275 chr5:70953280 . . 0 hm6A_associated_SNPs_7390 1 Likely benign 3-MCC Deficiency RCV000404190.1
651 chr5 73981299 73981299 1 + C T rs147155126 73981312 + 73981292 73981332 41 GCTGCATCTCGCCCCGGAGAACTTCTACATCAGCCACAGCC GCTGCATTTCGCCCCGGAGAACTTCTACATCAGCCACAGCC < 41bp 1 0.306180645370328 1 0.986493110656738 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 8 HEXB ENSG00000049860 CDS Human protein_coding chr5:73981312 chr5:73981299 nonsynonymous SNV 0.002 2 hm6A_associated_SNPs_7423 2 Likely benign not specified RCV000117219.3
652 chr5 73981299 73981299 1 + C T rs147155126 73981312 + 73981292 73981332 41 GCTGCATCTCGCCCCGGAGAACTTCTACATCAGCCACAGCC GCTGCATTTCGCCCCGGAGAACTTCTACATCAGCCACAGCC < 41bp 1 0.306180645370328 1 0.986493110656738 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 8 HEXB ENSG00000049860 CDS Human protein_coding chr5:73981312 chr5:73981299 nonsynonymous SNV 0.002 2 hm6A_associated_SNPs_7423 2 Likely benign not provided RCV000224126.1
653 chr5 73992881 73992881 1 + A G rs10805890 73992895 + 73992875 73992915 41 ATTTTGATTGATACATCCAGACATTATCTGCCAGTTAAGAT ATTTTGGTTGATACATCCAGACATTATCTGCCAGTTAAGAT < 41bp 1 0.613411283021434 1 0.0832239091396332 experiment 0.773177433957132 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 HEXB ENSG00000049860 CDS Human protein_coding chr5:73992895 chr5:73992881 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7424 3 other not specified RCV000079065.9
654 chr5 73992881 73992881 1 + A G rs10805890 73992895 + 73992875 73992915 41 ATTTTGATTGATACATCCAGACATTATCTGCCAGTTAAGAT ATTTTGGTTGATACATCCAGACATTATCTGCCAGTTAAGAT < 41bp 1 0.613411283021434 1 0.0832239091396332 experiment 0.773177433957132 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 HEXB ENSG00000049860 CDS Human protein_coding chr5:73992895 chr5:73992881 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7424 3 Benign HEXB POLYMORPHISM RCV000235014.1
655 chr5 73992881 73992881 1 + A G rs10805890 73992895 + 73992875 73992915 41 ATTTTGATTGATACATCCAGACATTATCTGCCAGTTAAGAT ATTTTGGTTGATACATCCAGACATTATCTGCCAGTTAAGAT < 41bp 1 0.613411283021434 1 0.0832239091396332 experiment 0.773177433957132 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 HEXB ENSG00000049860 CDS Human protein_coding chr5:73992895 chr5:73992881 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7424 3 Likely benign Sandhoff disease RCV000403428.1
656 chr5 76722449 76722449 1 + C T rs78676901 76722464 + 76722444 76722484 41 AGAGGCCTTCCTTTCTAATGACAATGACAGGTATTGGTGAA AGAGGTCTTCCTTTCTAATGACAATGACAGGTATTGGTGAA < 41bp 1 0.531283562790035 1 0.769010305404663 experiment 0.93743287441993 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 6 PDE8B ENSG00000113231 UTR3 Human protein_coding chr5:76722464 chr5:76722449 . . 0 hm6A_associated_SNPs_7474 1 Likely benign Striatal Degeneration RCV000324717.1
657 chr5 82815989 82815989 1 + T C rs147152203 82816000 + 82815980 82816020 41 ATGGATGACTGGGAAGAGAGACAAACTAGTGGTAGGATAAC ATGGATGACCGGGAAGAGAGACAAACTAGTGGTAGGATAAC < 41bp 1 0.651211558966094 1 0.974388241767883 experiment 0.697576882067812 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 VCAN ENSG00000038427 CDS Human protein_coding chr5:82816000 chr5:82815989 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_7503 1 Benign not specified RCV000392167.1
658 chr5 82816020 82816020 1 + C T rs143729093 82816000 + 82815980 82816020 41 ATGGATGACTGGGAAGAGAGACAAACTAGTGGTAGGATAAC ATGGATGACTGGGAAGAGAGACAAACTAGTGGTAGGATAAT < 41bp 1 0.664499656913845 1 0.958253920078278 experiment 0.67100068617231 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 41 VCAN ENSG00000038427 CDS Human protein_coding chr5:82816000 chr5:82816020 nonsynonymous SNV 0.008 1 hm6A_associated_SNPs_7504 2 Likely benign Vitreoretinopathy RCV000260619.1
659 chr5 82816020 82816020 1 + C T rs143729093 82816000 + 82815980 82816020 41 ATGGATGACTGGGAAGAGAGACAAACTAGTGGTAGGATAAC ATGGATGACTGGGAAGAGAGACAAACTAGTGGTAGGATAAT < 41bp 1 0.664499656913845 1 0.958253920078278 experiment 0.67100068617231 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 41 VCAN ENSG00000038427 CDS Human protein_coding chr5:82816000 chr5:82816020 nonsynonymous SNV 0.008 1 hm6A_associated_SNPs_7504 2 Likely benign Wagner syndrome RCV000315843.1
660 chr5 82833426 82833426 1 + A G rs61749614 82833427 + 82833407 82833447 41 GTTGGTCATCAGGCACATGAACATACTGAACCTGTATCTCT GTTGGTCATCAGGCACATGGACATACTGAACCTGTATCTCT < 41bp 1 0.763468673944887 1 0.996265888214111 experiment 0.473062652110226 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 20 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833427 chr5:82833426 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7507 3 Benign not specified RCV000154117.3
661 chr5 82833426 82833426 1 + A G rs61749614 82833427 + 82833407 82833447 41 GTTGGTCATCAGGCACATGAACATACTGAACCTGTATCTCT GTTGGTCATCAGGCACATGGACATACTGAACCTGTATCTCT < 41bp 1 0.763468673944887 1 0.996265888214111 experiment 0.473062652110226 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 20 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833427 chr5:82833426 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7507 3 Likely benign Wagner syndrome RCV000281374.1
662 chr5 82833426 82833426 1 + A G rs61749614 82833427 + 82833407 82833447 41 GTTGGTCATCAGGCACATGAACATACTGAACCTGTATCTCT GTTGGTCATCAGGCACATGGACATACTGAACCTGTATCTCT < 41bp 1 0.763468673944887 1 0.996265888214111 experiment 0.473062652110226 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 20 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833427 chr5:82833426 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7507 3 Likely benign Vitreoretinopathy RCV000390283.1
663 chr5 82833426 82833426 1 + A G rs61749614 82833436 + 82833416 82833456 41 CAGGCACATGAACATACTGAACCTGTATCTCTGTTTCCTGA CAGGCACATGGACATACTGAACCTGTATCTCTGTTTCCTGA < 41bp 1 0.288929885859072 1 0.990393996238708 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 11 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833436 chr5:82833426 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7508 3 Benign not specified RCV000154117.3
664 chr5 82833426 82833426 1 + A G rs61749614 82833436 + 82833416 82833456 41 CAGGCACATGAACATACTGAACCTGTATCTCTGTTTCCTGA CAGGCACATGGACATACTGAACCTGTATCTCTGTTTCCTGA < 41bp 1 0.288929885859072 1 0.990393996238708 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 11 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833436 chr5:82833426 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7508 3 Likely benign Wagner syndrome RCV000281374.1
665 chr5 82833426 82833426 1 + A G rs61749614 82833436 + 82833416 82833456 41 CAGGCACATGAACATACTGAACCTGTATCTCTGTTTCCTGA CAGGCACATGGACATACTGAACCTGTATCTCTGTTTCCTGA < 41bp 1 0.288929885859072 1 0.990393996238708 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 11 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833436 chr5:82833426 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7508 3 Likely benign Vitreoretinopathy RCV000390283.1
666 chr5 82834009 82834009 1 + G A rs35648048 82834013 + 82833993 82834033 41 AAAGGAAGGAGGAGGAGGGAACTACAGGTACGGCTTCTACA AAAGGAAGGAGGAGGAAGGAACTACAGGTACGGCTTCTACA < 41bp 1 0.560493191726652 1 0.883986294269562 experiment 0.879013616546697 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 VCAN ENSG00000038427 CDS Human protein_coding chr5:82834013 chr5:82834009 synonymous SNV . 0 hm6A_associated_SNPs_7511 3 other not specified RCV000154118.4
667 chr5 82834009 82834009 1 + G A rs35648048 82834013 + 82833993 82834033 41 AAAGGAAGGAGGAGGAGGGAACTACAGGTACGGCTTCTACA AAAGGAAGGAGGAGGAAGGAACTACAGGTACGGCTTCTACA < 41bp 1 0.560493191726652 1 0.883986294269562 experiment 0.879013616546697 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 VCAN ENSG00000038427 CDS Human protein_coding chr5:82834013 chr5:82834009 synonymous SNV . 0 hm6A_associated_SNPs_7511 3 Likely benign Wagner syndrome RCV000302966.1
668 chr5 82834009 82834009 1 + G A rs35648048 82834013 + 82833993 82834033 41 AAAGGAAGGAGGAGGAGGGAACTACAGGTACGGCTTCTACA AAAGGAAGGAGGAGGAAGGAACTACAGGTACGGCTTCTACA < 41bp 1 0.560493191726652 1 0.883986294269562 experiment 0.879013616546697 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 VCAN ENSG00000038427 CDS Human protein_coding chr5:82834013 chr5:82834009 synonymous SNV . 0 hm6A_associated_SNPs_7511 3 Likely benign Vitreoretinopathy RCV000393526.1
669 chr5 82834437 82834437 1 + C T rs150017263 82834448 + 82834428 82834468 41 CTTTGTCTCCGCATGTGGAAACTACATTCTCCACTGAGCCA CTTTGTCTCTGCATGTGGAAACTACATTCTCCACTGAGCCA < 41bp 1 0.331241311760528 1 0.883953928947449 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 VCAN ENSG00000038427 CDS Human protein_coding chr5:82834448 chr5:82834437 nonsynonymous SNV 0.022 2 hm6A_associated_SNPs_7512 2 Likely benign Vitreoretinopathy RCV000273391.1
670 chr5 82834437 82834437 1 + C T rs150017263 82834448 + 82834428 82834468 41 CTTTGTCTCCGCATGTGGAAACTACATTCTCCACTGAGCCA CTTTGTCTCTGCATGTGGAAACTACATTCTCCACTGAGCCA < 41bp 1 0.331241311760528 1 0.883953928947449 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 VCAN ENSG00000038427 CDS Human protein_coding chr5:82834448 chr5:82834437 nonsynonymous SNV 0.022 2 hm6A_associated_SNPs_7512 2 Likely benign Wagner syndrome RCV000314425.1
671 chr5 82835724 82835724 1 + T A rs160278 82835721 + 82835701 82835741 41 CTCAAGTGACAAAATTGAAGACTTTAACAGAATGGAAAATG CTCAAGTGACAAAATTGAAGACTATAACAGAATGGAAAATG < 41bp 1 0.751395283915454 1 0.996217966079712 experiment 0.497209432169093 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835721 chr5:82835724 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7513 3 Benign not specified RCV000180249.2
672 chr5 82835724 82835724 1 + T A rs160278 82835721 + 82835701 82835741 41 CTCAAGTGACAAAATTGAAGACTTTAACAGAATGGAAAATG CTCAAGTGACAAAATTGAAGACTATAACAGAATGGAAAATG < 41bp 1 0.751395283915454 1 0.996217966079712 experiment 0.497209432169093 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835721 chr5:82835724 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7513 3 Benign Vitreoretinopathy RCV000272515.1
673 chr5 82835724 82835724 1 + T A rs160278 82835721 + 82835701 82835741 41 CTCAAGTGACAAAATTGAAGACTTTAACAGAATGGAAAATG CTCAAGTGACAAAATTGAAGACTATAACAGAATGGAAAATG < 41bp 1 0.751395283915454 1 0.996217966079712 experiment 0.497209432169093 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835721 chr5:82835724 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_7513 3 Benign Wagner syndrome RCV000327636.1
674 chr5 82835852 82835852 1 + C T rs61733401 82835835 + 82835815 82835855 41 ATTAATAGAAATTTTAAGTGACACTGGAGCAGAAGGACCCA ATTAATAGAAATTTTAAGTGACACTGGAGCAGAAGGATCCA < 41bp 1 0.583816181666293 1 0.987162172794342 experiment 0.832367636667413 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 38 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835835 chr5:82835852 nonsynonymous SNV 0.026 0 hm6A_associated_SNPs_7515 2 Benign Vitreoretinopathy RCV000280664.1
675 chr5 82835852 82835852 1 + C T rs61733401 82835835 + 82835815 82835855 41 ATTAATAGAAATTTTAAGTGACACTGGAGCAGAAGGACCCA ATTAATAGAAATTTTAAGTGACACTGGAGCAGAAGGATCCA < 41bp 1 0.583816181666293 1 0.987162172794342 experiment 0.832367636667413 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 38 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835835 chr5:82835852 nonsynonymous SNV 0.026 0 hm6A_associated_SNPs_7515 2 Benign Wagner syndrome RCV000340300.1
676 chr5 82835852 82835852 1 + C T rs61733401 82835851 + 82835831 82835871 41 AGTGACACTGGAGCAGAAGGACCCACGGTGGCACCTCTCCC AGTGACACTGGAGCAGAAGGATCCACGGTGGCACCTCTCCC Direct Loss 1 0.384785639935692 1 0.988054275512695 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 22 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835851 chr5:82835852 nonsynonymous SNV 0.026 0 hm6A_associated_SNPs_7516 2 Benign Vitreoretinopathy RCV000280664.1
677 chr5 82835852 82835852 1 + C T rs61733401 82835851 + 82835831 82835871 41 AGTGACACTGGAGCAGAAGGACCCACGGTGGCACCTCTCCC AGTGACACTGGAGCAGAAGGATCCACGGTGGCACCTCTCCC Direct Loss 1 0.384785639935692 1 0.988054275512695 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 22 VCAN ENSG00000038427 CDS Human protein_coding chr5:82835851 chr5:82835852 nonsynonymous SNV 0.026 0 hm6A_associated_SNPs_7516 2 Benign Wagner syndrome RCV000340300.1
678 chr5 82837855 82837855 1 + C A rs16900532 82837854 + 82837834 82837874 41 TTCTTCTTCTCCAGAAATAAACCCTGAAACTCAAGCAGCTT TTCTTCTTCTCCAGAAATAAAACCTGAAACTCAAGCAGCTT Direct Loss 1 0.207735631590957 1 0.988294124603271 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837854 chr5:82837855 nonsynonymous SNV 0.201 0 hm6A_associated_SNPs_7525 3 Benign not specified RCV000245296.1
679 chr5 82837855 82837855 1 + C A rs16900532 82837854 + 82837834 82837874 41 TTCTTCTTCTCCAGAAATAAACCCTGAAACTCAAGCAGCTT TTCTTCTTCTCCAGAAATAAAACCTGAAACTCAAGCAGCTT Direct Loss 1 0.207735631590957 1 0.988294124603271 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837854 chr5:82837855 nonsynonymous SNV 0.201 0 hm6A_associated_SNPs_7525 3 Benign Wagner syndrome RCV000284628.1
680 chr5 82837855 82837855 1 + C A rs16900532 82837854 + 82837834 82837874 41 TTCTTCTTCTCCAGAAATAAACCCTGAAACTCAAGCAGCTT TTCTTCTTCTCCAGAAATAAAACCTGAAACTCAAGCAGCTT Direct Loss 1 0.207735631590957 1 0.988294124603271 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837854 chr5:82837855 nonsynonymous SNV 0.201 0 hm6A_associated_SNPs_7525 3 Benign Vitreoretinopathy RCV000323240.1
681 chr5 82837855 82837855 1 + C A rs16900532 82837862 + 82837842 82837882 41 CTCCAGAAATAAACCCTGAAACTCAAGCAGCTTTAATCAGA CTCCAGAAATAAAACCTGAAACTCAAGCAGCTTTAATCAGA < 41bp 1 0.288595895795542 1 0.990969359874725 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 14 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837862 chr5:82837855 nonsynonymous SNV 0.201 0 hm6A_associated_SNPs_7526 3 Benign not specified RCV000245296.1
682 chr5 82837855 82837855 1 + C A rs16900532 82837862 + 82837842 82837882 41 CTCCAGAAATAAACCCTGAAACTCAAGCAGCTTTAATCAGA CTCCAGAAATAAAACCTGAAACTCAAGCAGCTTTAATCAGA < 41bp 1 0.288595895795542 1 0.990969359874725 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 14 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837862 chr5:82837855 nonsynonymous SNV 0.201 0 hm6A_associated_SNPs_7526 3 Benign Wagner syndrome RCV000284628.1
683 chr5 82837855 82837855 1 + C A rs16900532 82837862 + 82837842 82837882 41 CTCCAGAAATAAACCCTGAAACTCAAGCAGCTTTAATCAGA CTCCAGAAATAAAACCTGAAACTCAAGCAGCTTTAATCAGA < 41bp 1 0.288595895795542 1 0.990969359874725 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 14 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837862 chr5:82837855 nonsynonymous SNV 0.201 0 hm6A_associated_SNPs_7526 3 Benign Vitreoretinopathy RCV000323240.1
684 chr5 82837897 82837897 1 + G A rs113014073 82837912 + 82837892 82837932 41 TCCACGATAGCAGCATCAGAACAGCAAGTGGCAGCGAGAAT TCCACAATAGCAGCATCAGAACAGCAAGTGGCAGCGAGAAT < 41bp 1 0.334611659160837 1 0.968055725097656 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 6 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837912 chr5:82837897 synonymous SNV . 0 hm6A_associated_SNPs_7527 3 Benign not specified RCV000248577.1
685 chr5 82837897 82837897 1 + G A rs113014073 82837912 + 82837892 82837932 41 TCCACGATAGCAGCATCAGAACAGCAAGTGGCAGCGAGAAT TCCACAATAGCAGCATCAGAACAGCAAGTGGCAGCGAGAAT < 41bp 1 0.334611659160837 1 0.968055725097656 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 6 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837912 chr5:82837897 synonymous SNV . 0 hm6A_associated_SNPs_7527 3 Benign Wagner syndrome RCV000289109.1
686 chr5 82837897 82837897 1 + G A rs113014073 82837912 + 82837892 82837932 41 TCCACGATAGCAGCATCAGAACAGCAAGTGGCAGCGAGAAT TCCACAATAGCAGCATCAGAACAGCAAGTGGCAGCGAGAAT < 41bp 1 0.334611659160837 1 0.968055725097656 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 6 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837912 chr5:82837897 synonymous SNV . 0 hm6A_associated_SNPs_7527 3 Benign Vitreoretinopathy RCV000395619.1
687 chr5 82837926 82837926 1 + C T rs111512368 82837912 + 82837892 82837932 41 TCCACGATAGCAGCATCAGAACAGCAAGTGGCAGCGAGAAT TCCACGATAGCAGCATCAGAACAGCAAGTGGCAGTGAGAAT < 41bp 1 0.35912090066577 1 0.96604859828949 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837912 chr5:82837926 nonsynonymous SNV 0.023 0 hm6A_associated_SNPs_7528 1 Benign not specified RCV000180251.2
688 chr5 82876983 82876983 1 + A G rs8061 82876965 + 82876945 82876985 41 AAGAAAGGCCTGAATGGAGGACTTTTCTGTAACCAGGAACA AAGAAAGGCCTGAATGGAGGACTTTTCTGTAACCAGGAGCA < 41bp 1 0.4325870088398 1 0.963673830032349 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control 39 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82876965 chr5:82876983 . . 0 hm6A_associated_SNPs_7531 2 Benign Wagner syndrome RCV000273425.1
689 chr5 82876983 82876983 1 + A G rs8061 82876965 + 82876945 82876985 41 AAGAAAGGCCTGAATGGAGGACTTTTCTGTAACCAGGAACA AAGAAAGGCCTGAATGGAGGACTTTTCTGTAACCAGGAGCA < 41bp 1 0.4325870088398 1 0.963673830032349 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control 39 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82876965 chr5:82876983 . . 0 hm6A_associated_SNPs_7531 2 Benign Vitreoretinopathy RCV000383135.1
690 chr5 82876983 82876983 1 + A G rs8061 82876976 + 82876956 82876996 41 GAATGGAGGACTTTTCTGTAACCAGGAACATTTTTTAGGGG GAATGGAGGACTTTTCTGTAACCAGGAGCATTTTTTAGGGG < 41bp 1 0.0991967475976839 1 0.822575092315674 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 28 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82876976 chr5:82876983 . . 0 hm6A_associated_SNPs_7532 2 Benign Wagner syndrome RCV000273425.1
691 chr5 82876983 82876983 1 + A G rs8061 82876976 + 82876956 82876996 41 GAATGGAGGACTTTTCTGTAACCAGGAACATTTTTTAGGGG GAATGGAGGACTTTTCTGTAACCAGGAGCATTTTTTAGGGG < 41bp 1 0.0991967475976839 1 0.822575092315674 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 28 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82876976 chr5:82876983 . . 0 hm6A_associated_SNPs_7532 2 Benign Vitreoretinopathy RCV000383135.1
692 chr5 82877069 82877069 1 + C A rs111455323 82877049 + 82877029 82877069 41 ACTTTTTAATGGCTTTCATAACACTAACTCATAAGGTTACC ACTTTTTAATGGCTTTCATAACACTAACTCATAAGGTTACA < 41bp 1 0.270185182055905 1 0.290172129869461 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 41 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82877049 chr5:82877069 . . 0 hm6A_associated_SNPs_7533 2 Likely benign Wagner syndrome RCV000284737.1
693 chr5 82877069 82877069 1 + C A rs111455323 82877049 + 82877029 82877069 41 ACTTTTTAATGGCTTTCATAACACTAACTCATAAGGTTACC ACTTTTTAATGGCTTTCATAACACTAACTCATAAGGTTACA < 41bp 1 0.270185182055905 1 0.290172129869461 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 41 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82877049 chr5:82877069 . . 0 hm6A_associated_SNPs_7533 2 Likely benign Vitreoretinopathy RCV000339790.1
694 chr5 82877069 82877069 1 + C A rs111455323 82877055 + 82877035 82877075 41 TAATGGCTTTCATAACACTAACTCATAAGGTTACCGATCAA TAATGGCTTTCATAACACTAACTCATAAGGTTACAGATCAA < 41bp 1 0.232085065309477 1 0.565075755119324 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82877055 chr5:82877069 . . 0 hm6A_associated_SNPs_7534 2 Likely benign Wagner syndrome RCV000284737.1
695 chr5 82877069 82877069 1 + C A rs111455323 82877055 + 82877035 82877075 41 TAATGGCTTTCATAACACTAACTCATAAGGTTACCGATCAA TAATGGCTTTCATAACACTAACTCATAAGGTTACAGATCAA < 41bp 1 0.232085065309477 1 0.565075755119324 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 VCAN ENSG00000249835 ncRNA_exonic Human antisense chr5:82877055 chr5:82877069 . . 0 hm6A_associated_SNPs_7534 2 Likely benign Vitreoretinopathy RCV000339790.1
696 chr5 82877682 82877682 1 + A G rs11726 82877685 + 82877665 82877705 41 AACCTGTAATGGAAAGTAAGACTCCTTCCCTAATTTCAGTT AACCTGTAATGGAAAGTGAGACTCCTTCCCTAATTTCAGTT < 41bp 1 0.0832305660165276 1 0.162310302257538 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 18 VCAN ENSG00000038427 UTR3 Human protein_coding chr5:82877685 chr5:82877682 . . 0 hm6A_associated_SNPs_7535 2 Benign Wagner syndrome RCV000289067.1
697 chr5 82877682 82877682 1 + A G rs11726 82877685 + 82877665 82877705 41 AACCTGTAATGGAAAGTAAGACTCCTTCCCTAATTTCAGTT AACCTGTAATGGAAAGTGAGACTCCTTCCCTAATTTCAGTT < 41bp 1 0.0832305660165276 1 0.162310302257538 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 18 VCAN ENSG00000038427 UTR3 Human protein_coding chr5:82877685 chr5:82877682 . . 0 hm6A_associated_SNPs_7535 2 Benign Vitreoretinopathy RCV000383078.1
698 chr5 82877689 82877689 1 + C T rs15071 82877685 + 82877665 82877705 41 AACCTGTAATGGAAAGTAAGACTCCTTCCCTAATTTCAGTT AACCTGTAATGGAAAGTAAGACTCTTTCCCTAATTTCAGTT < 41bp 1 0.104529212481491 1 0.355720996856689 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 25 VCAN ENSG00000038427 UTR3 Human protein_coding chr5:82877685 chr5:82877689 . . 0 hm6A_associated_SNPs_7536 2 Benign Wagner syndrome RCV000304187.1
699 chr5 82877689 82877689 1 + C T rs15071 82877685 + 82877665 82877705 41 AACCTGTAATGGAAAGTAAGACTCCTTCCCTAATTTCAGTT AACCTGTAATGGAAAGTAAGACTCTTTCCCTAATTTCAGTT < 41bp 1 0.104529212481491 1 0.355720996856689 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 25 VCAN ENSG00000038427 UTR3 Human protein_coding chr5:82877685 chr5:82877689 . . 0 hm6A_associated_SNPs_7536 2 Benign Vitreoretinopathy RCV000340396.1
700 chr5 86670690 86670690 1 + A T rs370819852 86670671 + 86670651 86670691 41 CTTTAGTGATCTTCCTCCTGACATCAATAGATTTGAAATAA CTTTAGTGATCTTCCTCCTGACATCAATAGATTTGAAATTA < 41bp 1 0.597232345916153 1 0.00114533305168152 experiment 0.805535308167693 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 40 RASA1 ENSG00000145715 CDS Human protein_coding chr5:86670671 chr5:86670690 synonymous SNV . 0 hm6A_associated_SNPs_7540 1 Benign Capillary malformation-arteriovenous malformation RCV000469521.1
701 chr5 86687075 86687075 1 + T C rs116868431 86687066 + 86687046 86687086 41 TGCTGTCTCTTAGAGAAAGAACTATGAAATCAACTGACAAG TGCTGTCTCTTAGAGAAAGAACTATGAAACCAACTGACAAG < 41bp 1 0.664365635301755 1 0.971076548099518 experiment 0.671268729396491 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 RASA1 ENSG00000145715 UTR3 Human protein_coding chr5:86687066 chr5:86687075 . . 0 hm6A_associated_SNPs_7542 2 Likely benign Capillary malformation-arteriovenous malformation RCV000321699.1
702 chr5 86687075 86687075 1 + T C rs116868431 86687066 + 86687046 86687086 41 TGCTGTCTCTTAGAGAAAGAACTATGAAATCAACTGACAAG TGCTGTCTCTTAGAGAAAGAACTATGAAACCAACTGACAAG < 41bp 1 0.664365635301755 1 0.971076548099518 experiment 0.671268729396491 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 RASA1 ENSG00000145715 UTR3 Human protein_coding chr5:86687066 chr5:86687075 . . 0 hm6A_associated_SNPs_7542 2 Likely benign Parkes Weber syndrome RCV000374124.1
703 chr5 110462626 110462626 1 + C G rs11952807 110462606 + 110462586 110462626 41 AAATTTGTGACTAAACAAAGACTTTCATATTAAATGGGTTC AAATTTGTGACTAAACAAAGACTTTCATATTAAATGGGTTG < 41bp 1 0.760296078520636 1 0.932983636856079 experiment 0.479407842958728 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 41 WDR36 ENSG00000134987 UTR3 Human protein_coding chr5:110462606 chr5:110462626 . . 0 hm6A_associated_SNPs_7599 1 Benign Primary open angle glaucoma RCV000331976.1
704 chr5 110463484 110463484 1 + A G rs185234710 110463485 + 110463465 110463505 41 ACACTGCAGACATGTAGATAACAATAGTTTAATGTCCTCTG ACACTGCAGACATGTAGATGACAATAGTTTAATGTCCTCTG < 41bp 1 0.336048872234344 1 0.0869023203849792 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 20 WDR36 ENSG00000134987 UTR3 Human protein_coding chr5:110463485 chr5:110463484 . . 0 hm6A_associated_SNPs_7600 1 Likely benign Primary open angle glaucoma RCV000356706.1
705 chr5 110463533 110463533 1 + C A rs189735907 110463536 + 110463516 110463556 41 AATTCCATAAATCCTTGCAAACAATTTTTAGCAATATTGTT AATTCCATAAATCCTTGAAAACAATTTTTAGCAATATTGTT < 41bp 1 0.247060773923156 1 0.0327560305595398 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 18 WDR36 ENSG00000134987 UTR3 Human protein_coding chr5:110463536 chr5:110463533 . . 0 hm6A_associated_SNPs_7601 1 Likely benign Primary open angle glaucoma RCV000316950.1
706 chr5 110464140 110464140 1 + G C rs149151603 110464150 + 110464130 110464170 41 TGACAGAAATGTTAATCATGACTTAAGTTCTAATTTAAAAA TGACAGAAATCTTAATCATGACTTAAGTTCTAATTTAAAAA < 41bp 1 0.0546326746804477 1 0.252449929714203 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 11 WDR36 ENSG00000134987 UTR3 Human protein_coding chr5:110464150 chr5:110464140 . . 0 hm6A_associated_SNPs_7602 1 Likely benign Primary open angle glaucoma RCV000316677.1
707 chr5 112111353 112111353 1 + A G rs116020626 112111349 + 112111329 112111369 41 ATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAG ATTGCTTCTTGCTGATCTTGACAAGGAAGAAAAGGAAAAAG < 41bp 1 0.673833404630405 1 0.917302250862122 experiment 0.65233319073919 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 25 APC ENSG00000134982 CDS Human protein_coding chr5:112111349 chr5:112111353 synonymous SNV . 0 hm6A_associated_SNPs_7610 3 Likely benign Hereditary cancer-predisposing syndrome RCV000159527.4
708 chr5 112111353 112111353 1 + A G rs116020626 112111349 + 112111329 112111369 41 ATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAG ATTGCTTCTTGCTGATCTTGACAAGGAAGAAAAGGAAAAAG < 41bp 1 0.673833404630405 1 0.917302250862122 experiment 0.65233319073919 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 25 APC ENSG00000134982 CDS Human protein_coding chr5:112111349 chr5:112111353 synonymous SNV . 0 hm6A_associated_SNPs_7610 3 Likely benign Familial adenomatous polyposis 1 RCV000199795.4
709 chr5 112111353 112111353 1 + A G rs116020626 112111349 + 112111329 112111369 41 ATTGCTTCTTGCTGATCTTGACAAAGAAGAAAAGGAAAAAG ATTGCTTCTTGCTGATCTTGACAAGGAAGAAAAGGAAAAAG < 41bp 1 0.673833404630405 1 0.917302250862122 experiment 0.65233319073919 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 25 APC ENSG00000134982 CDS Human protein_coding chr5:112111349 chr5:112111353 synonymous SNV . 0 hm6A_associated_SNPs_7610 3 other not specified RCV000211893.1
710 chr5 112154734 112154734 1 + A C rs3797704 112154754 + 112154734 112154774 41 AGCTATGTCTAGCTCCCAAGACAGCTGTATATCCATGCGAC CGCTATGTCTAGCTCCCAAGACAGCTGTATATCCATGCGAC < 41bp 1 0.358286497475681 1 0.656044065952301 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 APC ENSG00000134982 CDS Human protein_coding chr5:112154754 chr5:112154734 synonymous SNV . 0 hm6A_associated_SNPs_7611 1 Likely benign Familial adenomatous polyposis 1 RCV000227707.1
711 chr5 112178795 112178795 1 + G A rs2229995 112178809 + 112178789 112178829 41 CAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC CAGGCTAGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC < 41bp 1 0.748155848958672 1 0.965565621852875 experiment 0.503688302082655 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 APC ENSG00000134982 CDS Human protein_coding chr5:112178809 chr5:112178795 nonsynonymous SNV 0.957 2 hm6A_associated_SNPs_7612 6 Benign not provided RCV000034399.3
712 chr5 112178795 112178795 1 + G A rs2229995 112178809 + 112178789 112178829 41 CAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC CAGGCTAGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC < 41bp 1 0.748155848958672 1 0.965565621852875 experiment 0.503688302082655 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 APC ENSG00000134982 CDS Human protein_coding chr5:112178809 chr5:112178795 nonsynonymous SNV 0.957 2 hm6A_associated_SNPs_7612 6 Benign not specified RCV000077994.7
713 chr5 112178795 112178795 1 + G A rs2229995 112178809 + 112178789 112178829 41 CAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC CAGGCTAGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC < 41bp 1 0.748155848958672 1 0.965565621852875 experiment 0.503688302082655 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 APC ENSG00000134982 CDS Human protein_coding chr5:112178809 chr5:112178795 nonsynonymous SNV 0.957 2 hm6A_associated_SNPs_7612 6 Benign Familial adenomatous polyposis 1 RCV000119135.4
714 chr5 112178795 112178795 1 + G A rs2229995 112178809 + 112178789 112178829 41 CAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC CAGGCTAGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC < 41bp 1 0.748155848958672 1 0.965565621852875 experiment 0.503688302082655 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 APC ENSG00000134982 CDS Human protein_coding chr5:112178809 chr5:112178795 nonsynonymous SNV 0.957 2 hm6A_associated_SNPs_7612 6 Benign Hereditary cancer-predisposing syndrome RCV000157722.3
715 chr5 112178795 112178795 1 + G A rs2229995 112178809 + 112178789 112178829 41 CAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC CAGGCTAGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC < 41bp 1 0.748155848958672 1 0.965565621852875 experiment 0.503688302082655 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 APC ENSG00000134982 CDS Human protein_coding chr5:112178809 chr5:112178795 nonsynonymous SNV 0.957 2 hm6A_associated_SNPs_7612 6 Benign Familial multiple polyposis syndrome RCV000239067.1
716 chr5 112178795 112178795 1 + G A rs2229995 112178809 + 112178789 112178829 41 CAGGCTGGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC CAGGCTAGTGGATGGCGAAAACTCCCACCTAATCTCAGTCC < 41bp 1 0.748155848958672 1 0.965565621852875 experiment 0.503688302082655 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 APC ENSG00000134982 CDS Human protein_coding chr5:112178809 chr5:112178795 nonsynonymous SNV 0.957 2 hm6A_associated_SNPs_7612 6 Likely benign APC-Associated Polyposis Disorders RCV000307201.1
717 chr5 112179909 112179909 1 + C A rs1804197 112179898 + 112179878 112179918 41 GACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATT GACATTTTGTTTCAAATGAAACTTTAAAAGAATGAAAAATT < 41bp 1 0.57418348792559 1 0.95259040594101 experiment 0.85163302414882 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 32 APC ENSG00000134982 UTR3 Human protein_coding chr5:112179898 chr5:112179909 . . 0 hm6A_associated_SNPs_7613 3 other Familial colorectal cancer RCV000074248.1
718 chr5 112179909 112179909 1 + C A rs1804197 112179898 + 112179878 112179918 41 GACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATT GACATTTTGTTTCAAATGAAACTTTAAAAGAATGAAAAATT < 41bp 1 0.57418348792559 1 0.95259040594101 experiment 0.85163302414882 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 32 APC ENSG00000134982 UTR3 Human protein_coding chr5:112179898 chr5:112179909 . . 0 hm6A_associated_SNPs_7613 3 Benign not specified RCV000249942.1
719 chr5 112179909 112179909 1 + C A rs1804197 112179898 + 112179878 112179918 41 GACATTTTGTTTCAAATGAAACTTTAAAAGACTGAAAAATT GACATTTTGTTTCAAATGAAACTTTAAAAGAATGAAAAATT < 41bp 1 0.57418348792559 1 0.95259040594101 experiment 0.85163302414882 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 32 APC ENSG00000134982 UTR3 Human protein_coding chr5:112179898 chr5:112179909 . . 0 hm6A_associated_SNPs_7613 3 Benign APC-Associated Polyposis Disorders RCV000383415.1
720 chr5 126172195 126172195 1 + C T rs1051644 126172182 + 126172162 126172202 41 TATTGACACTGAACTTAATAACTGTGTACTGTTCGGAAGGG TATTGACACTGAACTTAATAACTGTGTACTGTTTGGAAGGG < 41bp 1 0.658462780033326 1 0.949765563011169 experiment 0.683074439933347 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 34 LMNB1 ENSG00000113368 UTR3 Human protein_coding chr5:126172182 chr5:126172195 . . 0 hm6A_associated_SNPs_7668 1 Benign Leukodystrophy, Adult-Onset RCV000277393.1
721 chr5 135388663 135388663 1 + A G rs1054124 135388667 + 135388647 135388687 41 TTGCGGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTG TTGCGGGGCTGTCTGTGGAGACCCTGGAGGGCACGACACTG < 41bp 1 0.119019906906786 1 0.712218403816223 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 17 TGFBI ENSG00000120708 CDS Human protein_coding chr5:135388667 chr5:135388663 synonymous SNV . 0 hm6A_associated_SNPs_7742 2 Benign not specified RCV000243404.1
722 chr5 135388663 135388663 1 + A G rs1054124 135388667 + 135388647 135388687 41 TTGCGGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTG TTGCGGGGCTGTCTGTGGAGACCCTGGAGGGCACGACACTG < 41bp 1 0.119019906906786 1 0.712218403816223 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 17 TGFBI ENSG00000120708 CDS Human protein_coding chr5:135388667 chr5:135388663 synonymous SNV . 0 hm6A_associated_SNPs_7742 2 Likely benign Corneal Dystrophy, Dominant RCV000375363.1
723 chr5 135390517 135390517 1 + C T rs190191005 135390500 + 135390480 135390520 41 AGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGCGGC AGTATCTGTACCATGGACAGACCCTGGAAACTCTGGGTGGC < 41bp 1 0.328212047451102 1 0.908470153808594 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 TGFBI ENSG00000120708 CDS Human protein_coding chr5:135390500 chr5:135390517 synonymous SNV . 0 hm6A_associated_SNPs_7743 1 Uncertain significance Corneal Dystrophy, Dominant RCV000347309.1
724 chr5 135390517 135390517 1 + C T rs190191005 135390509 + 135390489 135390529 41 ACCATGGACAGACCCTGGAAACTCTGGGCGGCAAAAAACTG ACCATGGACAGACCCTGGAAACTCTGGGTGGCAAAAAACTG < 41bp 1 0.381369245897074 1 0.917142391204834 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 29 TGFBI ENSG00000120708 CDS Human protein_coding chr5:135390509 chr5:135390517 synonymous SNV . 0 hm6A_associated_SNPs_7744 1 Uncertain significance Corneal Dystrophy, Dominant RCV000347309.1
725 chr5 135390517 135390517 1 + C T rs190191005 135390526 + 135390506 135390546 41 GAAACTCTGGGCGGCAAAAAACTGAGAGTTTTTGTTTATCG GAAACTCTGGGTGGCAAAAAACTGAGAGTTTTTGTTTATCG < 41bp 1 0.166567709379646 1 0.90094792842865 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 12 TGFBI ENSG00000120708 CDS Human protein_coding chr5:135390526 chr5:135390517 synonymous SNV . 0 hm6A_associated_SNPs_7745 1 Uncertain significance Corneal Dystrophy, Dominant RCV000347309.1
726 chr5 135399182 135399182 1 + C A rs17169782 135399202 + 135399182 135399222 41 CTATCCCAAATGTGGAATTGACTGCCTATGCCAAGTCCCTG ATATCCCAAATGTGGAATTGACTGCCTATGCCAAGTCCCTG < 41bp 1 0.359620415430127 1 0.75411581993103 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 1 TGFBI ENSG00000120708 UTR3 Human protein_coding chr5:135399202 chr5:135399182 . . 0 hm6A_associated_SNPs_7748 1 Likely benign Corneal Dystrophy, Dominant RCV000344734.1
727 chr5 138253446 138253446 1 + C T rs28363462 138253463 + 138253443 138253483 41 GCACTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCA GCATTGGCTTTAGCAGCAAAACCACAGAGTAAACTGGCCCA < 41bp 1 0.220179615427419 1 0.706846415996552 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 CTNNA1 ENSG00000044115 CDS Human protein_coding chr5:138253463 chr5:138253446 synonymous SNV . 0 hm6A_associated_SNPs_7769 1 Benign not specified RCV000473718.1
728 chr5 138666478 138666478 1 + G A rs572983701 138666485 + 138666465 138666505 41 TATTGGATTATCTGTTGTAAACAATTTTTTTTTCTTCCCTG TATTGGATTATCTATTGTAAACAATTTTTTTTTCTTCCCTG < 41bp 1 0.108445293536928 1 0.0345417261123657 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 14 MATR3 ENSG00000015479 UTR3 Human protein_coding chr5:138666485 chr5:138666478 . . 0 hm6A_associated_SNPs_7776 1 Likely benign Distal myopathy RCV000358800.1
729 chr5 149360202 149360202 1 + T A rs114212275 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTATGGAAAACTACATGAAAATTATAATTC < 41bp 1 0.685223987203078 1 0.548653185367584 experiment 0.629552025593844 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 14 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360202 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7851 5 Uncertain significance Osteochondrodysplasia RCV000281048.1
730 chr5 149360202 149360202 1 + T A rs114212275 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTATGGAAAACTACATGAAAATTATAATTC < 41bp 1 0.685223987203078 1 0.548653185367584 experiment 0.629552025593844 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 14 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360202 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7851 5 Uncertain significance Atelosteogenesis RCV000312752.1
731 chr5 149360202 149360202 1 + T A rs114212275 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTATGGAAAACTACATGAAAATTATAATTC < 41bp 1 0.685223987203078 1 0.548653185367584 experiment 0.629552025593844 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 14 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360202 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7851 5 Uncertain significance Multiple epiphyseal dysplasia 4 RCV000338459.1
732 chr5 149360202 149360202 1 + T A rs114212275 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTATGGAAAACTACATGAAAATTATAATTC < 41bp 1 0.685223987203078 1 0.548653185367584 experiment 0.629552025593844 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 14 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360202 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7851 5 Uncertain significance Achondrogenesis RCV000390859.1
733 chr5 149360202 149360202 1 + T A rs114212275 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTATGGAAAACTACATGAAAATTATAATTC < 41bp 1 0.685223987203078 1 0.548653185367584 experiment 0.629552025593844 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 14 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360202 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_7851 5 Uncertain significance Diastrophic dysplasia RCV000399511.1
734 chr5 149740772 149740772 1 + A G rs73270831 149740753 + 149740733 149740773 41 TCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAAC TCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAGC < 41bp 1 0.508789913318823 1 0.184545546770096 experiment 0.982420173362355 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149740753 chr5:149740772 synonymous SNV . 0 hm6A_associated_SNPs_7855 2 other not specified RCV000118604.3
735 chr5 149740772 149740772 1 + A G rs73270831 149740753 + 149740733 149740773 41 TCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAAC TCAGCCCGTAACCCTTCTGGACATCTATACACACTGGCAGC < 41bp 1 0.508789913318823 1 0.184545546770096 experiment 0.982420173362355 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149740753 chr5:149740772 synonymous SNV . 0 hm6A_associated_SNPs_7855 2 Likely benign Treacher Collins Syndrome, Dominant RCV000382856.1
736 chr5 149755421 149755421 1 + A G rs2071239 149755426 + 149755406 149755446 41 GAGCAGCGAGGAGTCATCGGACAGTGCGGACAGTGAGGAGG GAGCAGCGAGGAGTCGTCGGACAGTGCGGACAGTGAGGAGG < 41bp 1 0.652500517468848 1 0.973241329193115 experiment 0.694998965062305 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 16 TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755426 chr5:149755421 synonymous SNV . 0 hm6A_associated_SNPs_7856 2 other not specified RCV000118606.3
737 chr5 149755421 149755421 1 + A G rs2071239 149755426 + 149755406 149755446 41 GAGCAGCGAGGAGTCATCGGACAGTGCGGACAGTGAGGAGG GAGCAGCGAGGAGTCGTCGGACAGTGCGGACAGTGAGGAGG < 41bp 1 0.652500517468848 1 0.973241329193115 experiment 0.694998965062305 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 16 TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149755426 chr5:149755421 synonymous SNV . 0 hm6A_associated_SNPs_7856 2 Likely benign Treacher Collins Syndrome, Dominant RCV000394285.1
738 chr5 149776067 149776067 1 + A G rs55980697 149776058 + 149776038 149776078 41 GGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCA GGAAAGAAAGAAGGTGGTGGACACCACCAGGGAGAGCAGCA < 41bp 1 0.770376612689534 1 0.976414442062378 experiment 0.459246774620932 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 30 TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149776058 chr5:149776067 nonsynonymous SNV 0.406 3 hm6A_associated_SNPs_7858 2 Benign not specified RCV000251898.1
739 chr5 149776067 149776067 1 + A G rs55980697 149776058 + 149776038 149776078 41 GGAAAGAAAGAAGGTGGTGGACACCACCAAGGAGAGCAGCA GGAAAGAAAGAAGGTGGTGGACACCACCAGGGAGAGCAGCA < 41bp 1 0.770376612689534 1 0.976414442062378 experiment 0.459246774620932 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 30 TCOF1 ENSG00000070814 CDS Human protein_coding chr5:149776058 chr5:149776067 nonsynonymous SNV 0.406 3 hm6A_associated_SNPs_7858 2 Likely benign Treacher Collins Syndrome, Dominant RCV000332822.1
740 chr5 149779740 149779740 1 + C T rs55784390 149779720 + 149779700 149779740 41 CACAGATCCAGCTAGGCCTGACCTGTGCCTCATCCCGTGCC CACAGATCCAGCTAGGCCTGACCTGTGCCTCATCCCGTGCT < 41bp 1 0.61148148761798 1 0.83215719461441 experiment 0.777037024764041 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 41 TCOF1 ENSG00000070814 UTR3 Human protein_coding chr5:149779720 chr5:149779740 . . 0 hm6A_associated_SNPs_7862 1 Likely benign Treacher Collins Syndrome, Dominant RCV000395663.1
741 chr5 150647267 150647267 1 + C T rs75026189 150647274 + 150647254 150647294 41 CACGTTACTCATCCCCGTTAACATTCTCTCTAAAGAGCCTC CACGTTACTCATCTCCGTTAACATTCTCTCTAAAGAGCCTC < 41bp 1 0.402327792672281 1 0.0275074243545532 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 14 GM2A ENSG00000196743 UTR3 Human protein_coding chr5:150647274 chr5:150647267 . . 0 hm6A_associated_SNPs_7881 1 Uncertain significance Tay-Sachs disease, variant AB RCV000273102.1
742 chr5 156680074 156680074 1 + G A rs75760314 156680090 + 156680070 156680110 41 TAAAGTTTATGGTTCCAGGGACTTTTTATTTGACCCAACAA TAAAATTTATGGTTCCAGGGACTTTTTATTTGACCCAACAA < 41bp 1 0.155490273023981 1 0.947461068630219 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 5 ITK ENSG00000113263 UTR3 Human protein_coding chr5:156680090 chr5:156680074 . . 0 hm6A_associated_SNPs_7918 1 Uncertain significance Lymphoproliferative syndrome RCV000380206.1
743 chr5 167933156 167933156 1 + A G rs61744940 167933153 + 167933133 167933173 41 CTGGCTGCTATTAAACAAAGACTATTTGAGGAAAAAGCAGA CTGGCTGCTATTAAACAAAGACTGTTTGAGGAAAAAGCAGA < 41bp 1 0.518085483632216 1 0.950886428356171 experiment 0.963829032735569 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 24 RARS ENSG00000113643 CDS Human protein_coding chr5:167933153 chr5:167933156 synonymous SNV . 0 hm6A_associated_SNPs_7943 1 Benign not specified RCV000418252.1
744 chr5 167933158 167933158 1 + T A rs2305734 167933153 + 167933133 167933173 41 CTGGCTGCTATTAAACAAAGACTATTTGAGGAAAAAGCAGA CTGGCTGCTATTAAACAAAGACTATATGAGGAAAAAGCAGA < 41bp 1 0.60358582554798 1 0.926242709159851 experiment 0.79282834890404 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 26 RARS ENSG00000113643 CDS Human protein_coding chr5:167933153 chr5:167933158 nonsynonymous SNV 0.997 0 hm6A_associated_SNPs_7944 1 Benign not specified RCV000428034.1
745 chr5 167937606 167937606 1 + C T rs139644798 167937614 + 167937594 167937634 41 TTAAAACACGTTCGGGTGAAACAGTGCGCCTCATGGATCTT TTAAAACACGTTTGGGTGAAACAGTGCGCCTCATGGATCTT < 41bp 1 0.670290839706636 1 0.344855308532715 experiment 0.659418320586728 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 13 RARS ENSG00000113643 CDS Human protein_coding chr5:167937614 chr5:167937606 nonsynonymous SNV 0.839 2 hm6A_associated_SNPs_7946 1 Pathogenic Leukodystrophy, hypomyelinating, 9 RCV000256219.1
746 chr5 167937607 167937607 1 + G A rs2290629 167937614 + 167937594 167937634 41 TTAAAACACGTTCGGGTGAAACAGTGCGCCTCATGGATCTT TTAAAACACGTTCAGGTGAAACAGTGCGCCTCATGGATCTT < 41bp 1 0.672863151557707 1 0.444010972976685 experiment 0.654273696884586 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 14 RARS ENSG00000113643 CDS Human protein_coding chr5:167937614 chr5:167937607 synonymous SNV . 0 hm6A_associated_SNPs_7947 1 Benign not specified RCV000432208.1
747 chr5 174157309 174157309 1 + A C rs115604243 174157317 + 174157297 174157337 41 GGGATGAGAAGAATCCTGAGACTGCCTGGAGGTGAGGTAGA GGGATGAGAAGACTCCTGAGACTGCCTGGAGGTGAGGTAGA < 41bp 1 0.0398938727381985 1 0.299143701791763 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 MSX2 ENSG00000120149 UTR3 Human protein_coding chr5:174157317 chr5:174157309 . . 0 hm6A_associated_SNPs_7973 2 Likely benign Enlarged parietal foramina RCV000300717.1
748 chr5 174157309 174157309 1 + A C rs115604243 174157317 + 174157297 174157337 41 GGGATGAGAAGAATCCTGAGACTGCCTGGAGGTGAGGTAGA GGGATGAGAAGACTCCTGAGACTGCCTGGAGGTGAGGTAGA < 41bp 1 0.0398938727381985 1 0.299143701791763 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 MSX2 ENSG00000120149 UTR3 Human protein_coding chr5:174157317 chr5:174157309 . . 0 hm6A_associated_SNPs_7973 2 Likely benign Craniosynostosis RCV000353287.1
749 chr5 176631206 176631206 1 + C T rs34921128 176631224 + 176631204 176631244 41 ATCGTCATGTTTGAAGGCAGACATCAATTCGAAGAGCTACC ATTGTCATGTTTGAAGGCAGACATCAATTCGAAGAGCTACC < 41bp 1 0.558245600899502 1 0.493209064006805 experiment 0.883508798200995 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176631224 chr5:176631206 synonymous SNV . 0 hm6A_associated_SNPs_8019 2 Uncertain significance Sotos syndrome 1 RCV000146759.1
750 chr5 176631206 176631206 1 + C T rs34921128 176631224 + 176631204 176631244 41 ATCGTCATGTTTGAAGGCAGACATCAATTCGAAGAGCTACC ATTGTCATGTTTGAAGGCAGACATCAATTCGAAGAGCTACC < 41bp 1 0.558245600899502 1 0.493209064006805 experiment 0.883508798200995 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176631224 chr5:176631206 synonymous SNV . 0 hm6A_associated_SNPs_8019 2 Benign not specified RCV000153607.4
751 chr5 176721119 176721119 1 + G A rs35848863 176721128 + 176721108 176721148 41 GCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCA GCACCCAAAATATCAGATAAACCTCCTGCTGACACCAACCA < 41bp 1 0.687866472524631 1 0.942681670188904 experiment 0.624267054950739 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721128 chr5:176721119 nonsynonymous SNV 0.671 1 hm6A_associated_SNPs_8020 4 Benign not specified RCV000082135.6
752 chr5 176721119 176721119 1 + G A rs35848863 176721128 + 176721108 176721148 41 GCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCA GCACCCAAAATATCAGATAAACCTCCTGCTGACACCAACCA < 41bp 1 0.687866472524631 1 0.942681670188904 experiment 0.624267054950739 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721128 chr5:176721119 nonsynonymous SNV 0.671 1 hm6A_associated_SNPs_8020 4 Benign Sotos Syndrome RCV000299910.1
753 chr5 176721119 176721119 1 + G A rs35848863 176721128 + 176721108 176721148 41 GCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCA GCACCCAAAATATCAGATAAACCTCCTGCTGACACCAACCA < 41bp 1 0.687866472524631 1 0.942681670188904 experiment 0.624267054950739 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721128 chr5:176721119 nonsynonymous SNV 0.671 1 hm6A_associated_SNPs_8020 4 Benign Weaver syndrome RCV000359399.1
754 chr5 176721119 176721119 1 + G A rs35848863 176721128 + 176721108 176721148 41 GCACCCAAAATGTCAGATAAACCTCCTGCTGACACCAACCA GCACCCAAAATATCAGATAAACCTCCTGCTGACACCAACCA < 41bp 1 0.687866472524631 1 0.942681670188904 experiment 0.624267054950739 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176721128 chr5:176721119 nonsynonymous SNV 0.671 1 hm6A_associated_SNPs_8020 4 Benign Beckwith-Wiedemann syndrome RCV000471020.1
755 chr5 176726659 176726659 1 + T G rs78991579 176726656 + 176726636 176726676 41 GAAGAAGTGTTTCGAGTTTAACATGCGCTGTTTCTGCTTAT GAAGAAGTGTTTCGAGTTTAACAGGCGCTGTTTCTGCTTAT < 41bp 1 0.217720250998581 1 0.0531719624996185 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 NSD1 ENSG00000165671 UTR3 Human protein_coding chr5:176726656 chr5:176726659 . . 0 hm6A_associated_SNPs_8021 2 Likely benign Sotos Syndrome RCV000309513.1
756 chr5 176726659 176726659 1 + T G rs78991579 176726656 + 176726636 176726676 41 GAAGAAGTGTTTCGAGTTTAACATGCGCTGTTTCTGCTTAT GAAGAAGTGTTTCGAGTTTAACAGGCGCTGTTTCTGCTTAT < 41bp 1 0.217720250998581 1 0.0531719624996185 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 NSD1 ENSG00000165671 UTR3 Human protein_coding chr5:176726656 chr5:176726659 . . 0 hm6A_associated_SNPs_8021 2 Likely benign Weaver syndrome RCV000366937.1
757 chr5 179263445 179263445 1 + C T rs104893941 179263442 + 179263422 179263462 41 TACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCC TACTGTTTCGGCAGAGGCTGACCTGCGGCTGATTGAGTCCC < 41bp 1 0.206199655830813 1 0.0999182164669037 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 24 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179263442 chr5:179263445 nonsynonymous SNV 0.965 3 hm6A_associated_SNPs_8068 6 other Paget disease of bone, familial RCV000008576.5
758 chr5 179263445 179263445 1 + C T rs104893941 179263442 + 179263422 179263462 41 TACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCC TACTGTTTCGGCAGAGGCTGACCTGCGGCTGATTGAGTCCC < 41bp 1 0.206199655830813 1 0.0999182164669037 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 24 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179263442 chr5:179263445 nonsynonymous SNV 0.965 3 hm6A_associated_SNPs_8068 6 Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 RCV000184063.3
759 chr5 179263445 179263445 1 + C T rs104893941 179263442 + 179263422 179263462 41 TACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCC TACTGTTTCGGCAGAGGCTGACCTGCGGCTGATTGAGTCCC < 41bp 1 0.206199655830813 1 0.0999182164669037 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 24 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179263442 chr5:179263445 nonsynonymous SNV 0.965 3 hm6A_associated_SNPs_8068 6 Pathogenic Paget disease of bone RCV000318664.1
760 chr5 179263445 179263445 1 + C T rs104893941 179263442 + 179263422 179263462 41 TACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCC TACTGTTTCGGCAGAGGCTGACCTGCGGCTGATTGAGTCCC < 41bp 1 0.206199655830813 1 0.0999182164669037 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 24 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179263442 chr5:179263445 nonsynonymous SNV 0.965 3 hm6A_associated_SNPs_8068 6 Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 RCV000477939.1
761 chr5 179263445 179263445 1 + C T rs104893941 179263442 + 179263422 179263462 41 TACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCC TACTGTTTCGGCAGAGGCTGACCTGCGGCTGATTGAGTCCC < 41bp 1 0.206199655830813 1 0.0999182164669037 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 24 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179263442 chr5:179263445 nonsynonymous SNV 0.965 3 hm6A_associated_SNPs_8068 6 Likely pathogenic Paget disease of bone, familial RCV000477939.1
762 chr5 179263445 179263445 1 + C T rs104893941 179263442 + 179263422 179263462 41 TACTGTTTCGGCAGAGGCTGACCCGCGGCTGATTGAGTCCC TACTGTTTCGGCAGAGGCTGACCTGCGGCTGATTGAGTCCC < 41bp 1 0.206199655830813 1 0.0999182164669037 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 24 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179263442 chr5:179263445 nonsynonymous SNV 0.965 3 hm6A_associated_SNPs_8068 6 Likely pathogenic not provided RCV000490214.1
763 chr5 179263872 179263872 1 + C G rs11548631 179263861 + 179263841 179263881 41 CTCACTGCAGCGCGCTCCTGACCCCTCCCTGCAGGGGCTAC CTCACTGCAGCGCGCTCCTGACCCCTCCCTGGAGGGGCTAC < 41bp 1 0.266941673737807 1 0.0500864386558533 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 SQSTM1 ENSG00000161010;ENSG00000161011 UTR3 Human other chr5:179263861 chr5:179263872 . . 0 hm6A_associated_SNPs_8070 1 Likely benign Paget disease of bone RCV000290195.1
764 chr5 179264694 179264694 1 + G A rs61742526 179264695 - 179264675 179264715 41 TAGAAAAAGTTCACATGTGGACAGTGAGCAGCCAAGGTCTC TAGAAAAAGTTCACATGTGGATAGTGAGCAGCCAAGGTCTC Direct Loss 1 0.486516858568949 1 0.775973558425903 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 22 MRNIP ENSG00000161010 CDS Human protein_coding chr5:179264695 chr5:179264694 synonymous SNV . 0 hm6A_associated_SNPs_8074 1 Uncertain significance Paget disease of bone RCV000297389.1
765 chr5 179264704 179264704 1 + G C rs199887787 179264695 - 179264675 179264715 41 TAGAAAAAGTTCACATGTGGACAGTGAGCAGCCAAGGTCTC TAGAAAAAGTTGACATGTGGACAGTGAGCAGCCAAGGTCTC < 41bp 1 0.511983528713275 1 0.940468907356262 experiment 0.97603294257345 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 MRNIP ENSG00000161010 CDS Human protein_coding chr5:179264695 chr5:179264704 stopgain 0.001 0 hm6A_associated_SNPs_8075 1 Likely benign Paget disease of bone RCV000354083.1
766 chr5 179264915 179264915 1 + G T rs1065154 179264923 + 179264903 179264943 41 CATGCCCTCCATGTGTAAGAACAATGCCAGGGCCCAGGAGG CATGCCCTCCATTTGTAAGAACAATGCCAGGGCCCAGGAGG < 41bp 1 0.526190182906341 1 0.946686685085297 experiment 0.947619634187318 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 13 SQSTM1 ENSG00000161010;ENSG00000161011 UTR3 Human other chr5:179264923 chr5:179264915 . . 0 hm6A_associated_SNPs_8077 1 Likely benign Paget disease of bone RCV000332329.1
767 chr6 5369142 5369142 1 + C T rs41302853 5369122 + 5369102 5369142 41 AGTATGTGGGCCGCTTTGGGACCCCGTTGTTCTCGGTCTAC AGTATGTGGGCCGCTTTGGGACCCCGTTGTTCTCGGTCTAT < 41bp 1 0.661245463075182 1 0.96563994884491 experiment 0.677509073849635 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 41 FARS2 ENSG00000145982 CDS Human protein_coding chr6:5369122 chr6:5369142 synonymous SNV . 0 hm6A_associated_SNPs_8135 1 Benign not specified RCV000124980.2
768 chr6 7565711 7565711 1 + C G rs121912992 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACGACTGGAGGGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.39127043006837 1 0.978045105934143 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565711 nonsynonymous SNV 0.977 5 hm6A_associated_SNPs_8156 1 Pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000018332.29
769 chr6 7565727 7565727 1 + A G rs17604693 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACGACTGGAGCGACAAGAACACCAACGTCGCTCAGAAAC < 41bp 1 0.435390100657462 1 0.985811114311218 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565727 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_8157 4 Uncertain significance Cardiomyopathy, ARVC RCV000279302.1
770 chr6 7565727 7565727 1 + A G rs17604693 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACGACTGGAGCGACAAGAACACCAACGTCGCTCAGAAAC < 41bp 1 0.435390100657462 1 0.985811114311218 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565727 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_8157 4 Uncertain significance Skin fragility woolly hair syndrome RCV000311275.1
771 chr6 7565727 7565727 1 + A G rs17604693 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACGACTGGAGCGACAAGAACACCAACGTCGCTCAGAAAC < 41bp 1 0.435390100657462 1 0.985811114311218 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565727 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_8157 4 Uncertain significance Epidermolysis bullosa, lethal acantholytic RCV000350684.1
772 chr6 7565727 7565727 1 + A G rs17604693 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACGACTGGAGCGACAAGAACACCAACGTCGCTCAGAAAC < 41bp 1 0.435390100657462 1 0.985811114311218 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565727 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_8157 4 Uncertain significance Ectodermal dysplasia skin fragility syndrome RCV000403981.1
773 chr6 7576527 7576527 1 + G A rs1016835 7576545 + 7576525 7576565 41 AGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA AGATTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA < 41bp 1 0.442753577025747 1 0.194036662578583 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 DSP ENSG00000096696 CDS Human protein_coding chr6:7576545 chr6:7576527 synonymous SNV . 0 hm6A_associated_SNPs_8158 7 Benign,Benign not specified,not specified RCV000154390.1,RCV000038011.3
774 chr6 7576527 7576527 1 + G A rs1016835 7576545 + 7576525 7576565 41 AGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA AGATTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA < 41bp 1 0.442753577025747 1 0.194036662578583 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 DSP ENSG00000096696 CDS Human protein_coding chr6:7576545 chr6:7576527 synonymous SNV . 0 hm6A_associated_SNPs_8158 7 Benign Cardiovascular phenotype RCV000250214.1
775 chr6 7576527 7576527 1 + G A rs1016835 7576545 + 7576525 7576565 41 AGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA AGATTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA < 41bp 1 0.442753577025747 1 0.194036662578583 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 DSP ENSG00000096696 CDS Human protein_coding chr6:7576545 chr6:7576527 synonymous SNV . 0 hm6A_associated_SNPs_8158 7 Benign Ectodermal dysplasia skin fragility syndrome RCV000289404.1
776 chr6 7576527 7576527 1 + G A rs1016835 7576545 + 7576525 7576565 41 AGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA AGATTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA < 41bp 1 0.442753577025747 1 0.194036662578583 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 DSP ENSG00000096696 CDS Human protein_coding chr6:7576545 chr6:7576527 synonymous SNV . 0 hm6A_associated_SNPs_8158 7 Benign Skin fragility woolly hair syndrome RCV000292946.1
777 chr6 7576527 7576527 1 + G A rs1016835 7576545 + 7576525 7576565 41 AGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA AGATTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA < 41bp 1 0.442753577025747 1 0.194036662578583 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 DSP ENSG00000096696 CDS Human protein_coding chr6:7576545 chr6:7576527 synonymous SNV . 0 hm6A_associated_SNPs_8158 7 Benign Epidermolysis bullosa, lethal acantholytic RCV000352543.1
778 chr6 7576527 7576527 1 + G A rs1016835 7576545 + 7576525 7576565 41 AGGTTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA AGATTATGGGACCTGGAGAAACAAATCAAGCAATTGAGGAA < 41bp 1 0.442753577025747 1 0.194036662578583 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 DSP ENSG00000096696 CDS Human protein_coding chr6:7576545 chr6:7576527 synonymous SNV . 0 hm6A_associated_SNPs_8158 7 Benign Cardiomyopathy, ARVC RCV000388191.1
779 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 other Arrhythmogenic right ventricular cardiomyopathy RCV000029679.2
780 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Benign not specified RCV000038019.4
781 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000203998.3
782 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000203998.3
783 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Benign not provided RCV000224281.1
784 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Benign Cardiovascular phenotype RCV000245074.1
785 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Likely benign Skin fragility woolly hair syndrome RCV000280065.1
786 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Likely benign Cardiomyopathy, ARVC RCV000335072.1
787 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000343225.1
788 chr6 7577213 7577213 1 + G A rs80325569 7577223 + 7577203 7577243 41 TGAAATATCTGGCAAACGAGACAAATCAGAGGAAGTACAAA TGAAATATCTAGCAAACGAGACAAATCAGAGGAAGTACAAA < 41bp 1 0.617274561457499 1 0.157208532094955 experiment 0.765450877085003 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 DSP ENSG00000096696 CDS Human protein_coding chr6:7577223 chr6:7577213 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_8159 10 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000405945.1
789 chr6 7580119 7580119 1 + C A rs141120358 7580133 + 7580113 7580153 41 TGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAA TGATTCAAAAAATCTTAGAAACCAGCTTGATAGACTTTCAA < 41bp 1 0.701622732726465 1 0.999481797218323 experiment 0.596754534547071 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 DSP ENSG00000096696 CDS Human protein_coding chr6:7580133 chr6:7580119 synonymous SNV . 0 hm6A_associated_SNPs_8160 3 other not specified RCV000038030.4
790 chr6 7580119 7580119 1 + C A rs141120358 7580133 + 7580113 7580153 41 TGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAA TGATTCAAAAAATCTTAGAAACCAGCTTGATAGACTTTCAA < 41bp 1 0.701622732726465 1 0.999481797218323 experiment 0.596754534547071 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 DSP ENSG00000096696 CDS Human protein_coding chr6:7580133 chr6:7580119 synonymous SNV . 0 hm6A_associated_SNPs_8160 3 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000456441.1
791 chr6 7580119 7580119 1 + C A rs141120358 7580133 + 7580113 7580153 41 TGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAA TGATTCAAAAAATCTTAGAAACCAGCTTGATAGACTTTCAA < 41bp 1 0.701622732726465 1 0.999481797218323 experiment 0.596754534547071 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 DSP ENSG00000096696 CDS Human protein_coding chr6:7580133 chr6:7580119 synonymous SNV . 0 hm6A_associated_SNPs_8160 3 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000456441.1
792 chr6 7584173 7584173 1 + T A rs149070106 7584182 + 7584162 7584202 41 GTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACT GTAGATTCTGGAATATTGAGACCGTCCACTGTCAATGAACT < 41bp 1 0.79028628355164 1 0.993797779083252 experiment 0.41942743289672 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 DSP ENSG00000096696 CDS Human protein_coding chr6:7584182 chr6:7584173 synonymous SNV . 0 hm6A_associated_SNPs_8161 7 Likely benign not specified RCV000038077.2
793 chr6 7584173 7584173 1 + T A rs149070106 7584182 + 7584162 7584202 41 GTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACT GTAGATTCTGGAATATTGAGACCGTCCACTGTCAATGAACT < 41bp 1 0.79028628355164 1 0.993797779083252 experiment 0.41942743289672 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 DSP ENSG00000096696 CDS Human protein_coding chr6:7584182 chr6:7584173 synonymous SNV . 0 hm6A_associated_SNPs_8161 7 Benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000230810.2
794 chr6 7584173 7584173 1 + T A rs149070106 7584182 + 7584162 7584202 41 GTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACT GTAGATTCTGGAATATTGAGACCGTCCACTGTCAATGAACT < 41bp 1 0.79028628355164 1 0.993797779083252 experiment 0.41942743289672 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 DSP ENSG00000096696 CDS Human protein_coding chr6:7584182 chr6:7584173 synonymous SNV . 0 hm6A_associated_SNPs_8161 7 Benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000230810.2
795 chr6 7584173 7584173 1 + T A rs149070106 7584182 + 7584162 7584202 41 GTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACT GTAGATTCTGGAATATTGAGACCGTCCACTGTCAATGAACT < 41bp 1 0.79028628355164 1 0.993797779083252 experiment 0.41942743289672 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 DSP ENSG00000096696 CDS Human protein_coding chr6:7584182 chr6:7584173 synonymous SNV . 0 hm6A_associated_SNPs_8161 7 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000312693.1
796 chr6 7584173 7584173 1 + T A rs149070106 7584182 + 7584162 7584202 41 GTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACT GTAGATTCTGGAATATTGAGACCGTCCACTGTCAATGAACT < 41bp 1 0.79028628355164 1 0.993797779083252 experiment 0.41942743289672 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 DSP ENSG00000096696 CDS Human protein_coding chr6:7584182 chr6:7584173 synonymous SNV . 0 hm6A_associated_SNPs_8161 7 Likely benign Skin fragility woolly hair syndrome RCV000352732.1
797 chr6 7584173 7584173 1 + T A rs149070106 7584182 + 7584162 7584202 41 GTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACT GTAGATTCTGGAATATTGAGACCGTCCACTGTCAATGAACT < 41bp 1 0.79028628355164 1 0.993797779083252 experiment 0.41942743289672 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 DSP ENSG00000096696 CDS Human protein_coding chr6:7584182 chr6:7584173 synonymous SNV . 0 hm6A_associated_SNPs_8161 7 Likely benign Cardiomyopathy, ARVC RCV000355781.1
798 chr6 7584173 7584173 1 + T A rs149070106 7584182 + 7584162 7584202 41 GTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACT GTAGATTCTGGAATATTGAGACCGTCCACTGTCAATGAACT < 41bp 1 0.79028628355164 1 0.993797779083252 experiment 0.41942743289672 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 DSP ENSG00000096696 CDS Human protein_coding chr6:7584182 chr6:7584173 synonymous SNV . 0 hm6A_associated_SNPs_8161 7 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000402575.1
799 chr6 7586150 7586150 1 + T C rs145079869 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTCATATGAATTTCC < 41bp 1 0.710447708187461 1 0.530899524688721 experiment 0.579104583625077 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586150 . . 0 hm6A_associated_SNPs_8162 4 Likely benign Cardiomyopathy, ARVC RCV000277138.1
800 chr6 7586150 7586150 1 + T C rs145079869 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTCATATGAATTTCC < 41bp 1 0.710447708187461 1 0.530899524688721 experiment 0.579104583625077 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586150 . . 0 hm6A_associated_SNPs_8162 4 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000312307.1
801 chr6 7586150 7586150 1 + T C rs145079869 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTCATATGAATTTCC < 41bp 1 0.710447708187461 1 0.530899524688721 experiment 0.579104583625077 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586150 . . 0 hm6A_associated_SNPs_8162 4 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000332136.1
802 chr6 7586150 7586150 1 + T C rs145079869 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTCATATGAATTTCC < 41bp 1 0.710447708187461 1 0.530899524688721 experiment 0.579104583625077 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586150 . . 0 hm6A_associated_SNPs_8162 4 Likely benign Skin fragility woolly hair syndrome RCV000367013.1
803 chr6 7586158 7586158 1 + T C rs376397291 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTTATATGAACTTCC < 41bp 1 0.68392004292588 1 0.729342699050903 experiment 0.63215991414824 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586158 . . 0 hm6A_associated_SNPs_8163 4 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000259383.1
804 chr6 7586158 7586158 1 + T C rs376397291 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTTATATGAACTTCC < 41bp 1 0.68392004292588 1 0.729342699050903 experiment 0.63215991414824 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586158 . . 0 hm6A_associated_SNPs_8163 4 Likely benign Cardiomyopathy, ARVC RCV000319460.1
805 chr6 7586158 7586158 1 + T C rs376397291 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTTATATGAACTTCC < 41bp 1 0.68392004292588 1 0.729342699050903 experiment 0.63215991414824 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586158 . . 0 hm6A_associated_SNPs_8163 4 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000354243.1
806 chr6 7586158 7586158 1 + T C rs376397291 7586142 + 7586122 7586162 41 GGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCC GGAGTGGTTGCTATACCTTGACTTCATTTATATGAACTTCC < 41bp 1 0.68392004292588 1 0.729342699050903 experiment 0.63215991414824 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 DSP ENSG00000096696 UTR3 Human protein_coding chr6:7586142 chr6:7586158 . . 0 hm6A_associated_SNPs_8163 4 Likely benign Skin fragility woolly hair syndrome RCV000374149.1
807 chr6 10626921 10626921 1 + G A rs2230907 10626941 + 10626921 10626961 41 GTAATGTTAACCGTTTCAGGACCACGTTTATAGCTTCAGGA ATAATGTTAACCGTTTCAGGACCACGTTTATAGCTTCAGGA < 41bp 1 0.645090396917721 1 0.865014016628265 experiment 0.709819206164558 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 1 GCNT2 ENSG00000111846 UTR3 Human protein_coding chr6:10626941 chr6:10626921 . . 0 hm6A_associated_SNPs_8175 1 Likely benign Adult i blood group with or without congenital cataract RCV000318386.1
808 chr6 10626944 10626944 1 + A G rs151338305 10626941 + 10626921 10626961 41 GTAATGTTAACCGTTTCAGGACCACGTTTATAGCTTCAGGA GTAATGTTAACCGTTTCAGGACCGCGTTTATAGCTTCAGGA < 41bp 1 0.642164394123555 1 0.909047305583954 experiment 0.71567121175289 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 24 GCNT2 ENSG00000111846 UTR3 Human protein_coding chr6:10626941 chr6:10626944 . . 0 hm6A_associated_SNPs_8176 1 Uncertain significance Adult i blood group with or without congenital cataract RCV000259601.1
809 chr6 10626944 10626944 1 + A G rs151338305 10626961 + 10626941 10626981 41 ACCACGTTTATAGCTTCAGGACCTGGCTACGTAATTATACT ACCGCGTTTATAGCTTCAGGACCTGGCTACGTAATTATACT < 41bp 1 0.711092729452536 1 0.936217248439789 experiment 0.577814541094928 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 GCNT2 ENSG00000111846 UTR3 Human protein_coding chr6:10626961 chr6:10626944 . . 0 hm6A_associated_SNPs_8177 1 Uncertain significance Adult i blood group with or without congenital cataract RCV000259601.1
810 chr6 10626945 10626945 1 + C T rs113642669 10626941 + 10626921 10626961 41 GTAATGTTAACCGTTTCAGGACCACGTTTATAGCTTCAGGA GTAATGTTAACCGTTTCAGGACCATGTTTATAGCTTCAGGA < 41bp 1 0.683531343913771 1 0.920802712440491 experiment 0.632937312172458 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 25 GCNT2 ENSG00000111846 UTR3 Human protein_coding chr6:10626941 chr6:10626945 . . 0 hm6A_associated_SNPs_8178 1 Likely benign Adult i blood group with or without congenital cataract RCV000324099.1
811 chr6 10626945 10626945 1 + C T rs113642669 10626961 + 10626941 10626981 41 ACCACGTTTATAGCTTCAGGACCTGGCTACGTAATTATACT ACCATGTTTATAGCTTCAGGACCTGGCTACGTAATTATACT < 41bp 1 0.700954521831179 1 0.934780597686768 experiment 0.598090956337641 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 5 GCNT2 ENSG00000111846 UTR3 Human protein_coding chr6:10626961 chr6:10626945 . . 0 hm6A_associated_SNPs_8179 1 Likely benign Adult i blood group with or without congenital cataract RCV000324099.1
812 chr6 24534412 24534412 1 + C T rs140376278 24534420 + 24534400 24534440 41 CTGCCAGCTCAGCACAGAAGACACCGAATGTGCATCTGGAG CTGCCAGCTCAGTACAGAAGACACCGAATGTGCATCTGGAG < 41bp 1 0.239535967176823 1 0.265196114778519 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 13 ALDH5A1 ENSG00000112294 UTR3 Human protein_coding chr6:24534420 chr6:24534412 . . 0 hm6A_associated_SNPs_8252 1 Uncertain significance Succinate-semialdehyde dehydrogenase deficiency RCV000331482.1
813 chr6 24535208 24535208 1 + C A rs12190214 24535214 + 24535194 24535234 41 ATTCAAATAACGCACAAAAAACAAAAGCCGCTATGACCGGC ATTCAAATAACGCAAAAAAAACAAAAGCCGCTATGACCGGC < 41bp 1 0.118875410121126 1 0.804001569747925 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 15 ALDH5A1 ENSG00000112294 UTR3 Human protein_coding chr6:24535214 chr6:24535208 . . 0 hm6A_associated_SNPs_8254 1 Likely benign Succinate-semialdehyde dehydrogenase deficiency RCV000273856.1
814 chr6 24535455 24535455 1 + C T rs368136060 24535447 + 24535427 24535467 41 TGAACCCCACCTAGGATTTAACATCCCTCATTGAGCCACTG TGAACCCCACCTAGGATTTAACATCCCTTATTGAGCCACTG < 41bp 1 0.225670611821658 1 0.530113995075226 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 ALDH5A1 ENSG00000112294 UTR3 Human protein_coding chr6:24535447 chr6:24535455 . . 0 hm6A_associated_SNPs_8257 1 Uncertain significance Succinate-semialdehyde dehydrogenase deficiency RCV000340769.1
815 chr6 24536706 24536706 1 + G A rs13197086 24536689 + 24536669 24536709 41 GTTGAATAGTTGGGACAGGGACAGTATAGCCTGCAAAGCCT GTTGAATAGTTGGGACAGGGACAGTATAGCCTGCAAAACCT < 41bp 1 0.252629795523113 1 0.891315221786499 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 38 ALDH5A1 ENSG00000112294 UTR3 Human protein_coding chr6:24536689 chr6:24536706 . . 0 hm6A_associated_SNPs_8260 1 Likely benign Succinate-semialdehyde dehydrogenase deficiency RCV000267293.1
816 chr6 29913298 29913298 1 + A T rs1061235 29913290 + 29913270 29913310 41 TTCCTGCCCTTCCCTTTGTGACTTGAAGAACCCTGACTTTG TTCCTGCCCTTCCCTTTGTGACTTGAAGTACCCTGACTTTG < 41bp 1 0.250998222289711 1 0.0234891176223755 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 HLA-A ENSG00000206503 UTR3 Human protein_coding chr6:29913290 chr6:29913298 . . 0 hm6A_associated_SNPs_8431 1 other Carbamazepine hypersensitivity RCV000022618.3
817 chr6 29913298 29913298 1 + A T rs1061235 29913299 + 29913279 29913319 41 TTCCCTTTGTGACTTGAAGAACCCTGACTTTGTTTCTGCAA TTCCCTTTGTGACTTGAAGTACCCTGACTTTGTTTCTGCAA Direct Loss 1 0.231406335611981 1 0.0217296183109283 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 20 HLA-A ENSG00000206503 UTR3 Human protein_coding chr6:29913299 chr6:29913298 . . 0 hm6A_associated_SNPs_8432 1 other Carbamazepine hypersensitivity RCV000022618.3
818 chr6 29913298 29913298 1 + A T rs1061235 29913305 + 29913285 29913325 41 TTGTGACTTGAAGAACCCTGACTTTGTTTCTGCAAAGGCAC TTGTGACTTGAAGTACCCTGACTTTGTTTCTGCAAAGGCAC < 41bp 1 0.293566132794217 1 0.0479721128940582 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 14 HLA-A ENSG00000206503 UTR3 Human protein_coding chr6:29913305 chr6:29913298 . . 0 hm6A_associated_SNPs_8433 1 other Carbamazepine hypersensitivity RCV000022618.3
819 chr6 30691490 30691490 1 + G A rs25497 30691491 + 30691471 30691511 41 GCTTCCGCACTCTGAAGCTGACCACACCAACCTACGGGGAT GCTTCCGCACTCTGAAGCTAACCACACCAACCTACGGGGAT < 41bp 1 0.551204067065045 1 0.992957413196564 experiment 0.897591865869911 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 20 TUBB ENSG00000196230 CDS Human protein_coding chr6:30691491 chr6:30691490 synonymous SNV . 0 hm6A_associated_SNPs_8461 1 Benign not specified RCV000437303.1
820 chr6 43583292 43583292 1 + A G rs550215250 43583306 + 43583286 43583326 41 CATCTCAAACAAAAACAAGAACAAAAACAAACATAAAGTTG CATCTCGAACAAAAACAAGAACAAAAACAAACATAAAGTTG < 41bp 1 0.310699623577726 1 0.016963928937912 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 POLH ENSG00000170734 UTR3 Human protein_coding chr6:43583306 chr6:43583292 . . 0 hm6A_associated_SNPs_8727 1 Uncertain significance Xeroderma pigmentosum RCV000389985.1
821 chr6 43738350 43738350 1 + C G rs2010963 43738370 + 43738350 43738390 41 CGACAGGGGCAAAGTGAGTGACCTGCTTTTGGGGGTGACCG GGACAGGGGCAAAGTGAGTGACCTGCTTTTGGGGGTGACCG < 41bp 1 0.690213765915399 1 0.921065211296082 experiment 0.619572468169201 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 1 VEGFA ENSG00000272114 ncRNA_exonic Human antisense chr6:43738370 chr6:43738350 . . 0 hm6A_associated_SNPs_8733 1 other Microvascular complications of diabetes 1 RCV000013007.2
822 chr6 47445789 47445789 1 + A C rs1056434 47445806 + 47445786 47445826 41 TCGAGGGCCGCGCTGAAGAGACTGGTAGGAGAGCGCCGCGG TCGCGGGCCGCGCTGAAGAGACTGGTAGGAGAGCGCCGCGG < 41bp 1 0.37642423438171 1 0.893707871437073 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 4 CD2AP ENSG00000198087 UTR5 Human protein_coding chr6:47445806 chr6:47445789 . . 0 hm6A_associated_SNPs_8764 1 Benign Focal segmental glomerulosclerosis RCV000372105.1
823 chr6 47592791 47592791 1 + G C rs187393492 47592801 + 47592781 47592821 41 CCCTTAACTTGTGCCTAGAAACTACAGCACATATAAAATAT CCCTTAACTTCTGCCTAGAAACTACAGCACATATAAAATAT < 41bp 1 0.134347875105604 1 0.0199846029281616 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 11 CD2AP ENSG00000198087 UTR3 Human protein_coding chr6:47592801 chr6:47592791 . . 0 hm6A_associated_SNPs_8767 1 Likely benign Focal segmental glomerulosclerosis RCV000404564.1
824 chr6 76624695 76624695 1 + A G rs146461956 76624678 + 76624658 76624698 41 CAGAATGCGATTGAGAGCAGACAGGCTCGGCCCACCTATGC CAGAATGCGATTGAGAGCAGACAGGCTCGGCCCACCTGTGC < 41bp 1 0.790272764838873 1 0.267368018627167 experiment 0.419454470322254 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 MYO6 ENSG00000196586 CDS Human protein_coding chr6:76624678 chr6:76624695 nonsynonymous SNV 0.949 5 hm6A_associated_SNPs_8822 3 other not specified RCV000038309.4
825 chr6 76624695 76624695 1 + A G rs146461956 76624678 + 76624658 76624698 41 CAGAATGCGATTGAGAGCAGACAGGCTCGGCCCACCTATGC CAGAATGCGATTGAGAGCAGACAGGCTCGGCCCACCTGTGC < 41bp 1 0.790272764838873 1 0.267368018627167 experiment 0.419454470322254 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 MYO6 ENSG00000196586 CDS Human protein_coding chr6:76624678 chr6:76624695 nonsynonymous SNV 0.949 5 hm6A_associated_SNPs_8822 3 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000346796.1
826 chr6 76624695 76624695 1 + A G rs146461956 76624678 + 76624658 76624698 41 CAGAATGCGATTGAGAGCAGACAGGCTCGGCCCACCTATGC CAGAATGCGATTGAGAGCAGACAGGCTCGGCCCACCTGTGC < 41bp 1 0.790272764838873 1 0.267368018627167 experiment 0.419454470322254 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 MYO6 ENSG00000196586 CDS Human protein_coding chr6:76624678 chr6:76624695 nonsynonymous SNV 0.949 5 hm6A_associated_SNPs_8822 3 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000401418.1
827 chr6 88221391 88221391 1 + C T rs55960393 88221376 + 88221356 88221396 41 ATCAGTGCGGTTATGTGGAAACAACAACAAACAAACGAAGC ATCAGTGCGGTTATGTGGAAACAACAACAAACAAATGAAGC < 41bp 1 0.608761670377442 1 0.786785006523132 experiment 0.782476659245116 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 36 SLC35A1 ENSG00000164414 UTR3 Human protein_coding chr6:88221376 chr6:88221391 . . 0 hm6A_associated_SNPs_8861 1 Likely benign Pontoneocerebellar hypoplasia RCV000391275.1
828 chr6 88221391 88221391 1 + C T rs55960393 88221386 + 88221366 88221406 41 TTATGTGGAAACAACAACAAACAAACGAAGCTATCTGAGTG TTATGTGGAAACAACAACAAACAAATGAAGCTATCTGAGTG < 41bp 1 0.644423907375154 1 0.885632157325745 experiment 0.711152185249692 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 26 SLC35A1 ENSG00000164414 UTR3 Human protein_coding chr6:88221386 chr6:88221391 . . 0 hm6A_associated_SNPs_8862 1 Likely benign Pontoneocerebellar hypoplasia RCV000391275.1
829 chr6 88221391 88221391 1 + C T rs55960393 88221408 + 88221388 88221428 41 AAACGAAGCTATCTGAGTGAACTGCTAATACAGAAACTTAA AAATGAAGCTATCTGAGTGAACTGCTAATACAGAAACTTAA < 41bp 1 0.706870942028041 1 0.816462755203247 experiment 0.586258115943918 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 4 SLC35A1 ENSG00000164414 UTR3 Human protein_coding chr6:88221408 chr6:88221391 . . 0 hm6A_associated_SNPs_8863 1 Likely benign Pontoneocerebellar hypoplasia RCV000391275.1
830 chr6 110081557 110081557 1 + T C rs61729087 110081565 + 110081545 110081585 41 TATTGTTTATATTCCCTGGGACATGGCCAAGTATACCAAAA TATTGTTTATATCCCCTGGGACATGGCCAAGTATACCAAAA < 41bp 1 0.693960215240166 1 0.85033792257309 experiment 0.612079569519669 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 13 FIG4 ENSG00000112367 CDS Human protein_coding chr6:110081565 chr6:110081557 synonymous SNV . 0 hm6A_associated_SNPs_8928 3 Likely benign Charcot-Marie-Tooth, Type 4 RCV000300157.1
831 chr6 110081557 110081557 1 + T C rs61729087 110081565 + 110081545 110081585 41 TATTGTTTATATTCCCTGGGACATGGCCAAGTATACCAAAA TATTGTTTATATCCCCTGGGACATGGCCAAGTATACCAAAA < 41bp 1 0.693960215240166 1 0.85033792257309 experiment 0.612079569519669 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 13 FIG4 ENSG00000112367 CDS Human protein_coding chr6:110081565 chr6:110081557 synonymous SNV . 0 hm6A_associated_SNPs_8928 3 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000355040.1
832 chr6 110081557 110081557 1 + T C rs61729087 110081565 + 110081545 110081585 41 TATTGTTTATATTCCCTGGGACATGGCCAAGTATACCAAAA TATTGTTTATATCCCCTGGGACATGGCCAAGTATACCAAAA < 41bp 1 0.693960215240166 1 0.85033792257309 experiment 0.612079569519669 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 13 FIG4 ENSG00000112367 CDS Human protein_coding chr6:110081565 chr6:110081557 synonymous SNV . 0 hm6A_associated_SNPs_8928 3 Benign not specified RCV000441562.1
833 chr6 142691655 142691655 1 + G C rs111589388 142691673 + 142691653 142691693 41 TGGTGTAAATTTCAAAAGAAACTATGAAACAGTTCCATGTG TGCTGTAAATTTCAAAAGAAACTATGAAACAGTTCCATGTG < 41bp 1 0.744210826829117 1 0.914153873920441 experiment 0.511578346341766 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26593424;GSE73405;miCLIP;HepG2;Control 3 ADGRG6 ENSG00000112414 CDS Human protein_coding chr6:142691673 chr6:142691655 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_9023 1 Likely benign not provided RCV000438794.1
834 chr6 143792536 143792536 1 + C G rs199781957 143792520 + 143792500 143792540 41 TGTATTTCTGTTTTATACAGACAATTCTTGCTCCCCCAGAT TGTATTTCTGTTTTATACAGACAATTCTTGCTCCCCGAGAT < 41bp 1 0.586494876617277 1 0.869559407234192 experiment 0.827010246765446 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 37 PEX3 ENSG00000034693 CDS Human protein_coding chr6:143792520 chr6:143792536 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_9026 2 Uncertain significance not specified RCV000274339.1
835 chr6 143792536 143792536 1 + C G rs199781957 143792520 + 143792500 143792540 41 TGTATTTCTGTTTTATACAGACAATTCTTGCTCCCCCAGAT TGTATTTCTGTTTTATACAGACAATTCTTGCTCCCCGAGAT < 41bp 1 0.586494876617277 1 0.869559407234192 experiment 0.827010246765446 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 37 PEX3 ENSG00000034693 CDS Human protein_coding chr6:143792520 chr6:143792536 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_9026 2 Uncertain significance Zellweger syndrome RCV000317753.1
836 chr6 143810754 143810754 1 + G A rs140007169 143810739 + 143810719 143810759 41 TGAGGAAAAATCTGTTGGAGACATAGGTCTAGGATGTGTGA TGAGGAAAAATCTGTTGGAGACATAGGTCTAGGATATGTGA < 41bp 1 0.212241349152092 1 0.644696354866028 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 36 PEX3 ENSG00000229036 ncRNA_intronic Human transcribed_processed_pseudogene chr6:143810739 chr6:143810754 . . 0 hm6A_associated_SNPs_9027 1 Uncertain significance Zellweger syndrome RCV000288824.1
837 chr6 157522168 157522168 1 + C T rs139903653 157522158 + 157522138 157522178 41 TATGCCTTATCCCTACCAGAACAGGCAGGGCCCTGGCGGCC TATGCCTTATCCCTACCAGAACAGGCAGGGTCCTGGCGGCC < 41bp 1 0.715641922203901 1 0.973283767700195 experiment 0.568716155592198 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control 31 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157522158 chr6:157522168 synonymous SNV . 0 hm6A_associated_SNPs_9087 1 Likely benign not specified RCV000499397.1
838 chr6 157522223 157522223 1 + A T rs34870395 157522209 + 157522189 157522229 41 GCCCCCTTACCCAGGCATGAACCGCACAGACGATATGATGG GCCCCCTTACCCAGGCATGAACCGCACAGACGATTTGATGG < 41bp 1 0.466017114588503 1 0.97575056552887 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 35 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157522209 chr6:157522223 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_9089 1 Likely benign not specified RCV000114276.2
839 chr6 170162627 170162627 1 + G A rs149649895 170162619 + 170162599 170162639 41 GATGTCCAAAAAGACTCCTGACTGCTGAGGTAAGCTTGTTT GATGTCCAAAAAGACTCCTGACTGCTGAAGTAAGCTTGTTT < 41bp 1 0.260588936357641 1 0.745518684387207 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 29 ERMARD ENSG00000130023 CDS Human protein_coding chr6:170162619 chr6:170162627 synonymous SNV . 0 hm6A_associated_SNPs_9155 1 Likely benign not specified RCV000429508.1
840 chr6 170169738 170169738 1 + A G rs151283330 170169732 + 170169712 170169752 41 TACATGAATTTTCAAAAGAAACAACTAATCAGTTGCTTGCA TACATGAATTTTCAAAAGAAACAACTGATCAGTTGCTTGCA < 41bp 1 0.699968310063459 1 0.789308607578278 experiment 0.600063379873082 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 27 ERMARD ENSG00000130023 CDS Human protein_coding chr6:170169732 chr6:170169738 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_9156 2 Uncertain significance not provided RCV000425299.1
841 chr6 170169738 170169738 1 + A G rs151283330 170169732 + 170169712 170169752 41 TACATGAATTTTCAAAAGAAACAACTAATCAGTTGCTTGCA TACATGAATTTTCAAAAGAAACAACTGATCAGTTGCTTGCA < 41bp 1 0.699968310063459 1 0.789308607578278 experiment 0.600063379873082 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 27 ERMARD ENSG00000130023 CDS Human protein_coding chr6:170169732 chr6:170169738 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_9156 2 Likely benign not specified RCV000486312.1
842 chr7 299850 299850 1 + G T rs36170987 299867 + 299847 299887 41 CGTGCTAAAGGCCGTCCGGGACTGCGTGGAGAGGAACGGGC CGTTCTAAAGGCCGTCCGGGACTGCGTGGAGAGGAACGGGC < 41bp 1 0.663963134336646 1 0.946655750274658 experiment 0.672073731326708 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 FAM20C ENSG00000177706 CDS Human protein_coding chr7:299867 chr7:299850 synonymous SNV . 0 hm6A_associated_SNPs_9162 1 Benign not specified RCV000173884.1
843 chr7 299863 299863 1 + C T rs62644536 299867 + 299847 299887 41 CGTGCTAAAGGCCGTCCGGGACTGCGTGGAGAGGAACGGGC CGTGCTAAAGGCCGTCTGGGACTGCGTGGAGAGGAACGGGC < 41bp 1 0.696099964297682 1 0.955323696136475 experiment 0.607800071404636 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 FAM20C ENSG00000177706 CDS Human protein_coding chr7:299867 chr7:299863 nonsynonymous SNV 0.034 1 hm6A_associated_SNPs_9163 1 Benign not specified RCV000260505.1
844 chr7 299872 299872 1 + G A rs145750007 299867 + 299847 299887 41 CGTGCTAAAGGCCGTCCGGGACTGCGTGGAGAGGAACGGGC CGTGCTAAAGGCCGTCCGGGACTGCATGGAGAGGAACGGGC < 41bp 1 0.652749856527578 1 0.966741323471069 experiment 0.694500286944844 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 26 FAM20C ENSG00000177706 CDS Human protein_coding chr7:299867 chr7:299872 nonsynonymous SNV 0.123 0 hm6A_associated_SNPs_9164 2 Benign not specified RCV000173883.1
845 chr7 299872 299872 1 + G A rs145750007 299867 + 299847 299887 41 CGTGCTAAAGGCCGTCCGGGACTGCGTGGAGAGGAACGGGC CGTGCTAAAGGCCGTCCGGGACTGCATGGAGAGGAACGGGC < 41bp 1 0.652749856527578 1 0.966741323471069 experiment 0.694500286944844 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 26 FAM20C ENSG00000177706 CDS Human protein_coding chr7:299867 chr7:299872 nonsynonymous SNV 0.123 0 hm6A_associated_SNPs_9164 2 Likely benign not provided RCV000224271.1
846 chr7 794386 794386 1 + G A rs139675128 794376 + 794356 794396 41 GCTGCTGCTGCATGCCGAGGACCACGCCACGCAGCACCTGG GCTGCTGCTGCATGCCGAGGACCACGCCACACAGCACCTGG < 41bp 1 0.255890243829506 1 0.97632098197937 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 DNAAF5 ENSG00000164818 CDS Human protein_coding chr7:794376 chr7:794386 synonymous SNV . 0 hm6A_associated_SNPs_9168 1 Likely benign Primary ciliary dyskinesia RCV000464546.1
847 chr7 825286 825286 1 + A G rs78491700 825290 + 825270 825310 41 GCCGTGCCAGCCACACAGTGACCACGCTGGTTTCAGCCACG GCCGTGCCAGCCACACGGTGACCACGCTGGTTTCAGCCACG < 41bp 1 0.233308027588551 1 0.90270471572876 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 DNAAF5 ENSG00000164818 CDS Human protein_coding chr7:825290 chr7:825286 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_9174 2 Benign Primary ciliary dyskinesia RCV000229826.2
848 chr7 825286 825286 1 + A G rs78491700 825290 + 825270 825310 41 GCCGTGCCAGCCACACAGTGACCACGCTGGTTTCAGCCACG GCCGTGCCAGCCACACGGTGACCACGCTGGTTTCAGCCACG < 41bp 1 0.233308027588551 1 0.90270471572876 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 DNAAF5 ENSG00000164818 CDS Human protein_coding chr7:825290 chr7:825286 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_9174 2 Likely benign not specified RCV000243060.1
849 chr7 2565078 2565078 1 + C T rs147266260 2565071 + 2565051 2565091 41 GTTCTGCCACGTGGACGATGACAACTACGTCAACCTGCGGG GTTCTGCCACGTGGACGATGACAACTATGTCAACCTGCGGG < 41bp 1 0.497337266835557 1 0.995762348175049 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 28 LFNG ENSG00000106003 CDS Human protein_coding chr7:2565071 chr7:2565078 synonymous SNV . 0 hm6A_associated_SNPs_9241 1 Likely benign not specified RCV000245028.1
850 chr7 4831750 4831750 1 + G C rs193235922 4831739 + 4831719 4831759 41 CCACCTGAGTGGAGCTCAGAACACTGGATTCGCGCGAAGGG CCACCTGAGTGGAGCTCAGAACACTGGATTCCCGCGAAGGG < 41bp 1 0.450022457502631 1 0.909440159797668 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 AP5Z1 ENSG00000242802 downstream Human protein_coding chr7:4831739 chr7:4831750 . . 0 hm6A_associated_SNPs_9311 1 Uncertain significance Spastic Paraplegia, Recessive RCV000397965.1
851 chr7 23213924 23213924 1 + A G rs112802878 23213912 + 23213892 23213932 41 CAAATGAAGAGACCCTTGAAACATGAAAAATGAGTGGACTT CAAATGAAGAGACCCTTGAAACATGAAAAATGGGTGGACTT < 41bp 1 0.795381374643718 1 0.98192024230957 experiment 0.409237250712565 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 33 KLHL7 ENSG00000122550 UTR3 Human protein_coding chr7:23213912 chr7:23213924 . . 0 hm6A_associated_SNPs_9464 1 Likely benign Retinitis Pigmentosa, Dominant RCV000291654.1
852 chr7 23213924 23213924 1 + A G rs112802878 23213936 + 23213916 23213956 41 GAAAAATGAGTGGACTTCAGACTCATCAGAGACTCTAAAAT GAAAAATGGGTGGACTTCAGACTCATCAGAGACTCTAAAAT < 41bp 1 0.6772492867271 1 0.991804659366608 experiment 0.645501426545799 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 9 KLHL7 ENSG00000122550 UTR3 Human protein_coding chr7:23213936 chr7:23213924 . . 0 hm6A_associated_SNPs_9465 1 Likely benign Retinitis Pigmentosa, Dominant RCV000291654.1
853 chr7 23213952 23213952 1 + A G rs2286273 23213936 + 23213916 23213956 41 GAAAAATGAGTGGACTTCAGACTCATCAGAGACTCTAAAAT GAAAAATGAGTGGACTTCAGACTCATCAGAGACTCTGAAAT < 41bp 1 0.676809818730248 1 0.993799924850464 experiment 0.646380362539504 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 37 KLHL7 ENSG00000122550 UTR3 Human protein_coding chr7:23213936 chr7:23213952 . . 0 hm6A_associated_SNPs_9466 1 Likely benign Retinitis Pigmentosa, Dominant RCV000348874.1
854 chr7 23214815 23214815 1 + A T rs557309443 23214813 + 23214793 23214833 41 ATTCTTTTCCCTTAGCCAAAACATGAAATATTTAACCTAGT ATTCTTTTCCCTTAGCCAAAACTTGAAATATTTAACCTAGT < 41bp 1 0.105528785908191 1 0.001008540391922 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 23 KLHL7 ENSG00000122550 UTR3 Human protein_coding chr7:23214813 chr7:23214815 . . 0 hm6A_associated_SNPs_9467 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000324990.1
855 chr7 30649212 30649212 1 + T C rs7808770 30649224 + 30649204 30649244 41 GATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAA GATAACTACGGACAGCAAGAACTTGCGGATCTTTTTGTGAA < 41bp 1 0.400914117945932 1 0.91399884223938 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 9 GARS ENSG00000106105 CDS Human protein_coding chr7:30649224 chr7:30649212 synonymous SNV . 0 hm6A_associated_SNPs_9519 5 Benign not specified RCV000247260.2
856 chr7 30649212 30649212 1 + T C rs7808770 30649224 + 30649204 30649244 41 GATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAA GATAACTACGGACAGCAAGAACTTGCGGATCTTTTTGTGAA < 41bp 1 0.400914117945932 1 0.91399884223938 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 9 GARS ENSG00000106105 CDS Human protein_coding chr7:30649224 chr7:30649212 synonymous SNV . 0 hm6A_associated_SNPs_9519 5 Likely benign Peripheral axonal neuropathy RCV000286418.1
857 chr7 30649212 30649212 1 + T C rs7808770 30649224 + 30649204 30649244 41 GATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAA GATAACTACGGACAGCAAGAACTTGCGGATCTTTTTGTGAA < 41bp 1 0.400914117945932 1 0.91399884223938 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 9 GARS ENSG00000106105 CDS Human protein_coding chr7:30649224 chr7:30649212 synonymous SNV . 0 hm6A_associated_SNPs_9519 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000334471.1
858 chr7 30649212 30649212 1 + T C rs7808770 30649224 + 30649204 30649244 41 GATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAA GATAACTACGGACAGCAAGAACTTGCGGATCTTTTTGTGAA < 41bp 1 0.400914117945932 1 0.91399884223938 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 9 GARS ENSG00000106105 CDS Human protein_coding chr7:30649224 chr7:30649212 synonymous SNV . 0 hm6A_associated_SNPs_9519 5 Likely benign Distal spinal muscular atrophy RCV000406043.1
859 chr7 30649212 30649212 1 + T C rs7808770 30649224 + 30649204 30649244 41 GATAACTATGGACAGCAAGAACTTGCGGATCTTTTTGTGAA GATAACTACGGACAGCAAGAACTTGCGGATCTTTTTGTGAA < 41bp 1 0.400914117945932 1 0.91399884223938 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 9 GARS ENSG00000106105 CDS Human protein_coding chr7:30649224 chr7:30649212 synonymous SNV . 0 hm6A_associated_SNPs_9519 5 Benign Charcot-Marie-Tooth disease, type 2 RCV000472548.1
860 chr7 30655643 30655643 1 + G A rs17159287 30655632 + 30655612 30655652 41 GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCGGAAAATGCG GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCAGAAAATGCG < 41bp 1 0.774788898431616 1 0.839162588119507 experiment 0.450422203136768 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 GARS ENSG00000106105 CDS Human protein_coding chr7:30655632 chr7:30655643 nonsynonymous SNV 0.992 0 hm6A_associated_SNPs_9520 5 Likely benign Peripheral axonal neuropathy RCV000261919.1
861 chr7 30655643 30655643 1 + G A rs17159287 30655632 + 30655612 30655652 41 GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCGGAAAATGCG GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCAGAAAATGCG < 41bp 1 0.774788898431616 1 0.839162588119507 experiment 0.450422203136768 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 GARS ENSG00000106105 CDS Human protein_coding chr7:30655632 chr7:30655643 nonsynonymous SNV 0.992 0 hm6A_associated_SNPs_9520 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000315942.1
862 chr7 30655643 30655643 1 + G A rs17159287 30655632 + 30655612 30655652 41 GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCGGAAAATGCG GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCAGAAAATGCG < 41bp 1 0.774788898431616 1 0.839162588119507 experiment 0.450422203136768 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 GARS ENSG00000106105 CDS Human protein_coding chr7:30655632 chr7:30655643 nonsynonymous SNV 0.992 0 hm6A_associated_SNPs_9520 5 Likely benign Distal spinal muscular atrophy RCV000372862.1
863 chr7 30655643 30655643 1 + G A rs17159287 30655632 + 30655612 30655652 41 GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCGGAAAATGCG GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCAGAAAATGCG < 41bp 1 0.774788898431616 1 0.839162588119507 experiment 0.450422203136768 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 GARS ENSG00000106105 CDS Human protein_coding chr7:30655632 chr7:30655643 nonsynonymous SNV 0.992 0 hm6A_associated_SNPs_9520 5 Benign not specified RCV000429266.1
864 chr7 30655643 30655643 1 + G A rs17159287 30655632 + 30655612 30655652 41 GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCGGAAAATGCG GCAAAAGCCCAGGTCAGCGGACAGTCCGCTCAGAAAATGCG < 41bp 1 0.774788898431616 1 0.839162588119507 experiment 0.450422203136768 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 GARS ENSG00000106105 CDS Human protein_coding chr7:30655632 chr7:30655643 nonsynonymous SNV 0.992 0 hm6A_associated_SNPs_9520 5 Benign Charcot-Marie-Tooth disease, type 2 RCV000473112.1
865 chr7 30668237 30668237 1 + G A rs3886641 30668246 + 30668226 30668266 41 ATCATGTATACGGTATTTGAACATACATTCCATGTACGAGA ATCATGTATACAGTATTTGAACATACATTCCATGTACGAGA < 41bp 1 0.773037902264952 1 0.840474367141724 experiment 0.453924195470096 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 12 GARS ENSG00000106105 CDS Human protein_coding chr7:30668246 chr7:30668237 synonymous SNV . 0 hm6A_associated_SNPs_9521 5 Likely benign Peripheral axonal neuropathy RCV000260476.1
866 chr7 30668237 30668237 1 + G A rs3886641 30668246 + 30668226 30668266 41 ATCATGTATACGGTATTTGAACATACATTCCATGTACGAGA ATCATGTATACAGTATTTGAACATACATTCCATGTACGAGA < 41bp 1 0.773037902264952 1 0.840474367141724 experiment 0.453924195470096 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 12 GARS ENSG00000106105 CDS Human protein_coding chr7:30668246 chr7:30668237 synonymous SNV . 0 hm6A_associated_SNPs_9521 5 Likely benign Distal spinal muscular atrophy RCV000299292.1
867 chr7 30668237 30668237 1 + G A rs3886641 30668246 + 30668226 30668266 41 ATCATGTATACGGTATTTGAACATACATTCCATGTACGAGA ATCATGTATACAGTATTTGAACATACATTCCATGTACGAGA < 41bp 1 0.773037902264952 1 0.840474367141724 experiment 0.453924195470096 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 12 GARS ENSG00000106105 CDS Human protein_coding chr7:30668246 chr7:30668237 synonymous SNV . 0 hm6A_associated_SNPs_9521 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000353320.1
868 chr7 30668237 30668237 1 + G A rs3886641 30668246 + 30668226 30668266 41 ATCATGTATACGGTATTTGAACATACATTCCATGTACGAGA ATCATGTATACAGTATTTGAACATACATTCCATGTACGAGA < 41bp 1 0.773037902264952 1 0.840474367141724 experiment 0.453924195470096 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 12 GARS ENSG00000106105 CDS Human protein_coding chr7:30668246 chr7:30668237 synonymous SNV . 0 hm6A_associated_SNPs_9521 5 Benign not specified RCV000432353.1
869 chr7 30668237 30668237 1 + G A rs3886641 30668246 + 30668226 30668266 41 ATCATGTATACGGTATTTGAACATACATTCCATGTACGAGA ATCATGTATACAGTATTTGAACATACATTCCATGTACGAGA < 41bp 1 0.773037902264952 1 0.840474367141724 experiment 0.453924195470096 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 12 GARS ENSG00000106105 CDS Human protein_coding chr7:30668246 chr7:30668237 synonymous SNV . 0 hm6A_associated_SNPs_9521 5 Benign Charcot-Marie-Tooth disease, type 2 RCV000459965.1
870 chr7 30671921 30671921 1 + C T rs201927627 30671940 + 30671920 30671960 41 TCGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT TTGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT < 41bp 1 0.528108785420946 1 0.853672683238983 experiment 0.943782429158108 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control 2 GARS ENSG00000106105 CDS Human protein_coding chr7:30671940 chr7:30671921 synonymous SNV . 0 hm6A_associated_SNPs_9522 5 Benign Charcot-Marie-Tooth disease, type 2 RCV000204574.2
871 chr7 30671921 30671921 1 + C T rs201927627 30671940 + 30671920 30671960 41 TCGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT TTGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT < 41bp 1 0.528108785420946 1 0.853672683238983 experiment 0.943782429158108 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control 2 GARS ENSG00000106105 CDS Human protein_coding chr7:30671940 chr7:30671921 synonymous SNV . 0 hm6A_associated_SNPs_9522 5 Likely benign not specified RCV000250414.2
872 chr7 30671921 30671921 1 + C T rs201927627 30671940 + 30671920 30671960 41 TCGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT TTGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT < 41bp 1 0.528108785420946 1 0.853672683238983 experiment 0.943782429158108 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control 2 GARS ENSG00000106105 CDS Human protein_coding chr7:30671940 chr7:30671921 synonymous SNV . 0 hm6A_associated_SNPs_9522 5 Likely benign Peripheral axonal neuropathy RCV000297480.1
873 chr7 30671921 30671921 1 + C T rs201927627 30671940 + 30671920 30671960 41 TCGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT TTGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT < 41bp 1 0.528108785420946 1 0.853672683238983 experiment 0.943782429158108 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control 2 GARS ENSG00000106105 CDS Human protein_coding chr7:30671940 chr7:30671921 synonymous SNV . 0 hm6A_associated_SNPs_9522 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000336560.1
874 chr7 30671921 30671921 1 + C T rs201927627 30671940 + 30671920 30671960 41 TCGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT TTGGAAGGCGCTATGCCAGGACTGATGAGATTGGCGTGGCT < 41bp 1 0.528108785420946 1 0.853672683238983 experiment 0.943782429158108 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control 2 GARS ENSG00000106105 CDS Human protein_coding chr7:30671940 chr7:30671921 synonymous SNV . 0 hm6A_associated_SNPs_9522 5 Likely benign Distal spinal muscular atrophy RCV000404976.1
875 chr7 30673446 30673446 1 + G A rs190132116 30673447 + 30673427 30673467 41 CTCTGTTTGAAGGGCAAGAGACTGGTAAAAAAGAGACAATC CTCTGTTTGAAGGGCAAGAAACTGGTAAAAAAGAGACAATC < 41bp 1 0.74873027900613 1 0.944542288780212 experiment 0.502539441987741 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 GARS ENSG00000106105 CDS Human protein_coding chr7:30673447 chr7:30673446 synonymous SNV . 0 hm6A_associated_SNPs_9523 2 Benign not specified RCV000421886.1
876 chr7 30673446 30673446 1 + G A rs190132116 30673447 + 30673427 30673467 41 CTCTGTTTGAAGGGCAAGAGACTGGTAAAAAAGAGACAATC CTCTGTTTGAAGGGCAAGAAACTGGTAAAAAAGAGACAATC < 41bp 1 0.74873027900613 1 0.944542288780212 experiment 0.502539441987741 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 GARS ENSG00000106105 CDS Human protein_coding chr7:30673447 chr7:30673446 synonymous SNV . 0 hm6A_associated_SNPs_9523 2 Benign Charcot-Marie-Tooth disease, type 2 RCV000456746.1
877 chr7 30673543 30673543 1 + C G rs142498676 30673527 + 30673507 30673547 41 GCTAATAAAAAAAAAAAAAAACTACTCTTATGTCCACTTTA GCTAATAAAAAAAAAAAAAAACTACTCTTATGTCCAGTTTA < 41bp 1 0.471595199306313 1 0.734923124313354 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;Control 37 GARS ENSG00000106105 UTR3 Human protein_coding chr7:30673527 chr7:30673543 . . 0 hm6A_associated_SNPs_9524 3 Likely benign Charcot-Marie-Tooth, Type 2 RCV000315038.1
878 chr7 30673543 30673543 1 + C G rs142498676 30673527 + 30673507 30673547 41 GCTAATAAAAAAAAAAAAAAACTACTCTTATGTCCACTTTA GCTAATAAAAAAAAAAAAAAACTACTCTTATGTCCAGTTTA < 41bp 1 0.471595199306313 1 0.734923124313354 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;Control 37 GARS ENSG00000106105 UTR3 Human protein_coding chr7:30673527 chr7:30673543 . . 0 hm6A_associated_SNPs_9524 3 Likely benign Distal spinal muscular atrophy RCV000369733.1
879 chr7 30673543 30673543 1 + C G rs142498676 30673527 + 30673507 30673547 41 GCTAATAAAAAAAAAAAAAAACTACTCTTATGTCCACTTTA GCTAATAAAAAAAAAAAAAAACTACTCTTATGTCCAGTTTA < 41bp 1 0.471595199306313 1 0.734923124313354 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;Control 37 GARS ENSG00000106105 UTR3 Human protein_coding chr7:30673527 chr7:30673543 . . 0 hm6A_associated_SNPs_9524 3 Likely benign Peripheral axonal neuropathy RCV000398117.1
880 chr7 45077978 45077978 1 + G A rs2107732 45077992 + 45077972 45078012 41 GAGCGCGTCGAGCCAGACAGACTGCTGAGCGACTATATTGA GAGCGCATCGAGCCAGACAGACTGCTGAGCGACTATATTGA < 41bp 1 0.324329048003539 1 0.954927086830139 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 7 CCM2 ENSG00000136280 CDS Human protein_coding chr7:45077992 chr7:45077978 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_9596 1 Benign not specified RCV000248409.1
881 chr7 55273162 55273162 1 + G A rs41321844 55273180 + 55273160 55273200 41 CAGCCACCAAATTAGCCTGGACAACCCTGACTACCAGCAGG CAACCACCAAATTAGCCTGGACAACCCTGACTACCAGCAGG < 41bp 1 0.68935630102394 1 0.995549082756042 experiment 0.621287397952119 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 3 EGFR ENSG00000146648 CDS Human protein_coding chr7:55273180 chr7:55273162 nonsynonymous SNV 0.029 0 hm6A_associated_SNPs_9609 1 not provided not specified RCV000120700.1
882 chr7 55274084 55274084 1 + T C rs884225 55274073 + 55274053 55274093 41 TTCCATTCCATTGTTTTGAAACTCAGTATGCTGCCCCTGTC TTCCATTCCATTGTTTTGAAACTCAGTATGCCGCCCCTGTC < 41bp 1 0.0453942064250417 1 0.937593340873718 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 32 EGFR ENSG00000146648 UTR3 Human protein_coding chr7:55274073 chr7:55274084 . . 0 hm6A_associated_SNPs_9614 1 Likely benign Lung cancer RCV000273171.1
883 chr7 66106394 66106394 1 + C A rs369221941 66106378 + 66106358 66106398 41 CTTTCAGTAATGTGGCCTTGACCCCTTCTGCTTCCCCCTTC CTTTCAGTAATGTGGCCTTGACCCCTTCTGCTTCCCACTTC < 41bp 1 0.0455257641748585 1 0.00078117847442627 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 37 KCTD7 ENSG00000243335 UTR3 Human protein_coding chr7:66106378 chr7:66106394 . . 0 hm6A_associated_SNPs_9658 1 Uncertain significance Progressive myoclonic epilepsy RCV000403899.1
884 chr7 75583325 75583325 1 + A G rs10262966 75583339 + 75583319 75583359 41 CATGGGAGACTCCCACGTGGACACCAGCTCCACCGTGTCCG CATGGGGGACTCCCACGTGGACACCAGCTCCACCGTGTCCG < 41bp 1 0.410568032182848 1 0.870578706264496 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 7 POR ENSG00000127948 CDS Human protein_coding chr7:75583339 chr7:75583325 synonymous SNV . 0 hm6A_associated_SNPs_9712 1 other Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis RCV000018413.29
885 chr7 75612904 75612904 1 + C T rs180683888 75612902 + 75612882 75612922 41 ACCGGAAGCTGAACCAGGGAACCGAGCGCCACCTCATGCAC ACCGGAAGCTGAACCAGGGAACTGAGCGCCACCTCATGCAC < 41bp 1 0.419415238392749 1 0.997161269187927 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 POR ENSG00000127948 CDS Human protein_coding chr7:75612902 chr7:75612904 synonymous SNV . 0 hm6A_associated_SNPs_9714 1 Uncertain significance Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis RCV000386892.1
886 chr7 75932038 75932038 1 + G A rs77586767 75932033 + 75932013 75932053 41 GAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTC GAGCAGAGTCAGCCAGCATGACCGAACGCCGCGTCCCCTTC < 41bp 1 0.385080056245133 1 0.95201849937439 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75932033 chr7:75932038 synonymous SNV . 0 hm6A_associated_SNPs_9718 2 Likely benign not specified RCV000173261.2
887 chr7 75932038 75932038 1 + G A rs77586767 75932033 + 75932013 75932053 41 GAGCAGAGTCAGCCAGCATGACCGAGCGCCGCGTCCCCTTC GAGCAGAGTCAGCCAGCATGACCGAACGCCGCGTCCCCTTC < 41bp 1 0.385080056245133 1 0.95201849937439 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 HSPB1 ENSG00000106211 CDS Human protein_coding chr7:75932033 chr7:75932038 synonymous SNV . 0 hm6A_associated_SNPs_9718 2 Benign Charcot-Marie-Tooth disease type 2F RCV000206103.3
888 chr7 91630532 91630532 1 + G A rs60031334 91630524 + 91630504 91630544 41 GAAACACAAAGAAAGTTAGAACAACTCCGGGCAGAGCTGGA GAAACACAAAGAAAGTTAGAACAACTCCAGGCAGAGCTGGA < 41bp 1 0.766014914428032 1 0.971802175045013 experiment 0.467970171143937 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91630524 chr7:91630532 nonsynonymous SNV 0.996 1 hm6A_associated_SNPs_9761 3 Benign not specified RCV000171776.1
889 chr7 91630532 91630532 1 + G A rs60031334 91630524 + 91630504 91630544 41 GAAACACAAAGAAAGTTAGAACAACTCCGGGCAGAGCTGGA GAAACACAAAGAAAGTTAGAACAACTCCAGGCAGAGCTGGA < 41bp 1 0.766014914428032 1 0.971802175045013 experiment 0.467970171143937 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91630524 chr7:91630532 nonsynonymous SNV 0.996 1 hm6A_associated_SNPs_9761 3 Likely benign Romano-Ward syndrome RCV000296066.1
890 chr7 91630532 91630532 1 + G A rs60031334 91630524 + 91630504 91630544 41 GAAACACAAAGAAAGTTAGAACAACTCCGGGCAGAGCTGGA GAAACACAAAGAAAGTTAGAACAACTCCAGGCAGAGCTGGA < 41bp 1 0.766014914428032 1 0.971802175045013 experiment 0.467970171143937 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91630524 chr7:91630532 nonsynonymous SNV 0.996 1 hm6A_associated_SNPs_9761 3 other Long QT syndrome RCV000399344.1
891 chr7 91630767 91630767 1 + C T rs61757665 91630764 + 91630744 91630784 41 ACTAACTCTCAAAAGGAAAAACTCAAGGAAGAACTAGGACT ACTAACTCTCAAAAGGAAAAACTTAAGGAAGAACTAGGACT < 41bp 1 0.69122695898943 1 0.98578804731369 experiment 0.617546082021139 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91630764 chr7:91630767 synonymous SNV . 0 hm6A_associated_SNPs_9762 2 Benign not specified RCV000123593.3
892 chr7 91630767 91630767 1 + C T rs61757665 91630764 + 91630744 91630784 41 ACTAACTCTCAAAAGGAAAAACTCAAGGAAGAACTAGGACT ACTAACTCTCAAAAGGAAAAACTTAAGGAAGAACTAGGACT < 41bp 1 0.69122695898943 1 0.98578804731369 experiment 0.617546082021139 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91630764 chr7:91630767 synonymous SNV . 0 hm6A_associated_SNPs_9762 2 Benign Long QT syndrome RCV000464754.1
893 chr7 91631656 91631656 1 + A G rs144615758 91631675 + 91631655 91631695 41 CATTAAGTCCAAATCCAAAGACTCTGTGTGGGAAAAAGAAA CGTTAAGTCCAAATCCAAAGACTCTGTGTGGGAAAAAGAAA < 41bp 1 0.720350389622291 1 0.999438643455505 experiment 0.559299220755418 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|26404942;GSE71154;m6A-CLIP-seq;A549;Control 2 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91631675 chr7:91631656 nonsynonymous SNV 0.595 0 hm6A_associated_SNPs_9763 3 Likely benign not provided RCV000170633.3
894 chr7 91631656 91631656 1 + A G rs144615758 91631675 + 91631655 91631695 41 CATTAAGTCCAAATCCAAAGACTCTGTGTGGGAAAAAGAAA CGTTAAGTCCAAATCCAAAGACTCTGTGTGGGAAAAAGAAA < 41bp 1 0.720350389622291 1 0.999438643455505 experiment 0.559299220755418 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|26404942;GSE71154;m6A-CLIP-seq;A549;Control 2 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91631675 chr7:91631656 nonsynonymous SNV 0.595 0 hm6A_associated_SNPs_9763 3 Likely benign not specified RCV000185482.2
895 chr7 91631656 91631656 1 + A G rs144615758 91631675 + 91631655 91631695 41 CATTAAGTCCAAATCCAAAGACTCTGTGTGGGAAAAAGAAA CGTTAAGTCCAAATCCAAAGACTCTGTGTGGGAAAAAGAAA < 41bp 1 0.720350389622291 1 0.999438643455505 experiment 0.559299220755418 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|26404942;GSE71154;m6A-CLIP-seq;A549;Control 2 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91631675 chr7:91631656 nonsynonymous SNV 0.595 0 hm6A_associated_SNPs_9763 3 Benign Long QT syndrome RCV000461686.1
896 chr7 91632013 91632013 1 + T C rs34370932 91632010 + 91631990 91632030 41 ACAAAACTTTTGTAGCAGAAACATTGGAAATGGGTGAGGTT ACAAAACTTTTGTAGCAGAAACACTGGAAATGGGTGAGGTT < 41bp 1 0.798055742147176 1 0.991569995880127 experiment 0.403888515705648 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91632010 chr7:91632013 synonymous SNV . 0 hm6A_associated_SNPs_9764 3 Benign Cardiovascular phenotype RCV000247931.1
897 chr7 91632013 91632013 1 + T C rs34370932 91632010 + 91631990 91632030 41 ACAAAACTTTTGTAGCAGAAACATTGGAAATGGGTGAGGTT ACAAAACTTTTGTAGCAGAAACACTGGAAATGGGTGAGGTT < 41bp 1 0.798055742147176 1 0.991569995880127 experiment 0.403888515705648 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91632010 chr7:91632013 synonymous SNV . 0 hm6A_associated_SNPs_9764 3 other Long QT syndrome RCV000328795.1
898 chr7 91632013 91632013 1 + T C rs34370932 91632010 + 91631990 91632030 41 ACAAAACTTTTGTAGCAGAAACATTGGAAATGGGTGAGGTT ACAAAACTTTTGTAGCAGAAACACTGGAAATGGGTGAGGTT < 41bp 1 0.798055742147176 1 0.991569995880127 experiment 0.403888515705648 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91632010 chr7:91632013 synonymous SNV . 0 hm6A_associated_SNPs_9764 3 Likely benign Romano-Ward syndrome RCV000383341.1
899 chr7 91659259 91659259 1 + T C rs73407505 91659255 + 91659235 91659275 41 CAGAATCTGATGCACAGAGAACAATGTACCCTGGAAGTTGT CAGAATCTGATGCACAGAGAACAACGTACCCTGGAAGTTGT < 41bp 1 0.677515936463554 1 0.0365995764732361 experiment 0.644968127072891 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 25 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91659255 chr7:91659259 nonsynonymous SNV 0.071 0 hm6A_associated_SNPs_9767 4 Benign not specified RCV000171780.1
900 chr7 91659259 91659259 1 + T C rs73407505 91659255 + 91659235 91659275 41 CAGAATCTGATGCACAGAGAACAATGTACCCTGGAAGTTGT CAGAATCTGATGCACAGAGAACAACGTACCCTGGAAGTTGT < 41bp 1 0.677515936463554 1 0.0365995764732361 experiment 0.644968127072891 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 25 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91659255 chr7:91659259 nonsynonymous SNV 0.071 0 hm6A_associated_SNPs_9767 4 Benign Cardiovascular phenotype RCV000250219.1
901 chr7 91659259 91659259 1 + T C rs73407505 91659255 + 91659235 91659275 41 CAGAATCTGATGCACAGAGAACAATGTACCCTGGAAGTTGT CAGAATCTGATGCACAGAGAACAACGTACCCTGGAAGTTGT < 41bp 1 0.677515936463554 1 0.0365995764732361 experiment 0.644968127072891 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 25 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91659255 chr7:91659259 nonsynonymous SNV 0.071 0 hm6A_associated_SNPs_9767 4 other Long QT syndrome RCV000310602.1
902 chr7 91659259 91659259 1 + T C rs73407505 91659255 + 91659235 91659275 41 CAGAATCTGATGCACAGAGAACAATGTACCCTGGAAGTTGT CAGAATCTGATGCACAGAGAACAACGTACCCTGGAAGTTGT < 41bp 1 0.677515936463554 1 0.0365995764732361 experiment 0.644968127072891 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 25 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91659255 chr7:91659259 nonsynonymous SNV 0.071 0 hm6A_associated_SNPs_9767 4 Likely benign Romano-Ward syndrome RCV000402169.1
903 chr7 91712698 91712698 1 + A G rs6960867 91712703 + 91712683 91712723 41 AGATCAGTAGCAGCAATCAGACTCCACAAATTCTTGTTAAA AGATCAGTAGCAGCAGTCAGACTCCACAAATTCTTGTTAAA < 41bp 1 0.649528275200304 1 0.960329473018646 experiment 0.700943449599392 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 16 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91712703 chr7:91712698 nonsynonymous SNV 0.896 0 hm6A_associated_SNPs_9768 4 Benign not specified RCV000123585.6
904 chr7 91712698 91712698 1 + A G rs6960867 91712703 + 91712683 91712723 41 AGATCAGTAGCAGCAATCAGACTCCACAAATTCTTGTTAAA AGATCAGTAGCAGCAGTCAGACTCCACAAATTCTTGTTAAA < 41bp 1 0.649528275200304 1 0.960329473018646 experiment 0.700943449599392 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 16 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91712703 chr7:91712698 nonsynonymous SNV 0.896 0 hm6A_associated_SNPs_9768 4 Benign Cardiovascular phenotype RCV000252649.1
905 chr7 91712698 91712698 1 + A G rs6960867 91712703 + 91712683 91712723 41 AGATCAGTAGCAGCAATCAGACTCCACAAATTCTTGTTAAA AGATCAGTAGCAGCAGTCAGACTCCACAAATTCTTGTTAAA < 41bp 1 0.649528275200304 1 0.960329473018646 experiment 0.700943449599392 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 16 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91712703 chr7:91712698 nonsynonymous SNV 0.896 0 hm6A_associated_SNPs_9768 4 Likely benign Romano-Ward syndrome RCV000261848.1
906 chr7 91712698 91712698 1 + A G rs6960867 91712703 + 91712683 91712723 41 AGATCAGTAGCAGCAATCAGACTCCACAAATTCTTGTTAAA AGATCAGTAGCAGCAGTCAGACTCCACAAATTCTTGTTAAA < 41bp 1 0.649528275200304 1 0.960329473018646 experiment 0.700943449599392 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 16 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91712703 chr7:91712698 nonsynonymous SNV 0.896 0 hm6A_associated_SNPs_9768 4 Likely benign Long QT syndrome RCV000386806.1
907 chr7 91726391 91726391 1 + C A rs140470576 91726383 + 91726363 91726403 41 AATGAGACTGAAAAATATAAACTGGATTCTTTGCAAACACG AATGAGACTGAAAAATATAAACTGGATTATTTGCAAACACG < 41bp 1 0.786944963965856 1 0.998703002929688 experiment 0.426110072068288 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 29 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91726383 chr7:91726391 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_9769 3 Likely benign not provided RCV000170637.3
908 chr7 91726391 91726391 1 + C A rs140470576 91726383 + 91726363 91726403 41 AATGAGACTGAAAAATATAAACTGGATTCTTTGCAAACACG AATGAGACTGAAAAATATAAACTGGATTATTTGCAAACACG < 41bp 1 0.786944963965856 1 0.998703002929688 experiment 0.426110072068288 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 29 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91726383 chr7:91726391 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_9769 3 other Long QT syndrome RCV000233623.3
909 chr7 91726391 91726391 1 + C A rs140470576 91726383 + 91726363 91726403 41 AATGAGACTGAAAAATATAAACTGGATTCTTTGCAAACACG AATGAGACTGAAAAATATAAACTGGATTATTTGCAAACACG < 41bp 1 0.786944963965856 1 0.998703002929688 experiment 0.426110072068288 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 29 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91726383 chr7:91726391 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_9769 3 Uncertain significance Romano-Ward syndrome RCV000351603.1
910 chr7 91729054 91729054 1 + G A rs56198613 91729073 + 91729053 91729093 41 TGAGACAAAATGCTGAGCTGACAGGGCATATCAGTCAACTG TAAGACAAAATGCTGAGCTGACAGGGCATATCAGTCAACTG < 41bp 1 0.517076587818201 1 0.850276291370392 experiment 0.965846824363597 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 2 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91729073 chr7:91729054 synonymous SNV . 0 hm6A_associated_SNPs_9770 2 Uncertain significance not specified RCV000178555.1
911 chr7 91729054 91729054 1 + G A rs56198613 91729073 + 91729053 91729093 41 TGAGACAAAATGCTGAGCTGACAGGGCATATCAGTCAACTG TAAGACAAAATGCTGAGCTGACAGGGCATATCAGTCAACTG < 41bp 1 0.517076587818201 1 0.850276291370392 experiment 0.965846824363597 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 2 AKAP9 ENSG00000127914 CDS Human protein_coding chr7:91729073 chr7:91729054 synonymous SNV . 0 hm6A_associated_SNPs_9770 2 Benign Long QT syndrome RCV000229749.1
912 chr7 94057692 94057692 1 + G A rs73428220 94057707 + 94057687 94057727 41 TATCCGGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGT TATCCAGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGT < 41bp 1 0.632140689609534 1 0.93755316734314 experiment 0.735718620780933 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 6 COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057707 chr7:94057692 nonsynonymous SNV 0.936 0 hm6A_associated_SNPs_9778 3 Likely benign Osteogenesis Imperfecta, Dominant RCV000338728.1
913 chr7 94057692 94057692 1 + G A rs73428220 94057707 + 94057687 94057727 41 TATCCGGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGT TATCCAGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGT < 41bp 1 0.632140689609534 1 0.93755316734314 experiment 0.735718620780933 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 6 COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057707 chr7:94057692 nonsynonymous SNV 0.936 0 hm6A_associated_SNPs_9778 3 Likely benign Ehlers-Danlos syndrome, procollagen proteinase deficient RCV000398137.1
914 chr7 94057692 94057692 1 + G A rs73428220 94057707 + 94057687 94057727 41 TATCCGGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGT TATCCAGGCCCAACCTGAAAACATCCCAGCCAAGAACTGGT < 41bp 1 0.632140689609534 1 0.93755316734314 experiment 0.735718620780933 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 6 COL1A2 ENSG00000164692 CDS Human protein_coding chr7:94057707 chr7:94057692 nonsynonymous SNV 0.936 0 hm6A_associated_SNPs_9778 3 Likely benign not specified RCV000417681.1
915 chr7 100781084 100781084 1 + T C rs11178 100781088 + 100781068 100781108 41 GAGGCCCTTTGCAGGATGGAACTACGGGGCTTACAGGAGCT GAGGCCCTTTGCAGGACGGAACTACGGGGCTTACAGGAGCT < 41bp 1 0.343258369884167 1 0.899663686752319 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 SERPINE1 ENSG00000106366 UTR3 Human protein_coding chr7:100781088 chr7:100781084 . . 0 hm6A_associated_SNPs_9916 1 Benign Plasminogen activator inhibitor type 1 deficiency RCV000341849.1
916 chr7 100781909 100781909 1 + C T rs2227714 100781916 + 100781896 100781936 41 CTTTCCCCAATTACAGGGTGACTCACAGCCGCATTGGTGAC CTTTCCCCAATTATAGGGTGACTCACAGCCGCATTGGTGAC < 41bp 1 0.513498993889293 1 0.00929409265518188 experiment 0.973002012221414 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 14 SERPINE1 ENSG00000106366 UTR3 Human protein_coding chr7:100781916 chr7:100781909 . . 0 hm6A_associated_SNPs_9918 1 Likely benign Plasminogen activator inhibitor type 1 deficiency RCV000279284.1
917 chr7 105182995 105182995 1 + G A rs7805216 105182990 + 105182970 105183010 41 CCATTAACAGCCATTTGCTGACTGCGCAACCTTGGATGGAC CCATTAACAGCCATTTGCTGACTGCACAACCTTGGATGGAC < 41bp 1 0.399368421058522 1 0.945354342460632 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 26 RINT1 ENSG00000135249 CDS Human protein_coding chr7:105182990 chr7:105182995 synonymous SNV . 0 hm6A_associated_SNPs_9961 1 Benign not specified RCV000455899.1
918 chr7 105187673 105187673 1 + C T rs148050825 105187692 + 105187672 105187712 41 TCGCACCCCCTCAATCACAAACTGTTGGCTTAAGTCGACCT TTGCACCCCCTCAATCACAAACTGTTGGCTTAAGTCGACCT < 41bp 1 0.77570341987669 1 0.801662683486938 experiment 0.44859316024662 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 2 RINT1 ENSG00000135249 CDS Human protein_coding chr7:105187692 chr7:105187673 synonymous SNV . 0 hm6A_associated_SNPs_9962 1 Benign not specified RCV000227854.2
919 chr7 107559911 107559911 1 + G A rs4564 107559918 + 107559898 107559938 41 TCAGTGCACTAATGTGTAAGACAAAAAGCTACTTATTGTAG TCAGTGCACTAATATGTAAGACAAAAAGCTACTTATTGTAG < 41bp 1 0.685832670264264 1 0.575717270374298 experiment 0.628334659471473 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 14 DLD ENSG00000091140 UTR3 Human protein_coding chr7:107559918 chr7:107559911 . . 0 hm6A_associated_SNPs_9975 3 Benign Maple syrup urine disease RCV000267242.1
920 chr7 107559911 107559911 1 + G A rs4564 107559918 + 107559898 107559938 41 TCAGTGCACTAATGTGTAAGACAAAAAGCTACTTATTGTAG TCAGTGCACTAATATGTAAGACAAAAAGCTACTTATTGTAG < 41bp 1 0.685832670264264 1 0.575717270374298 experiment 0.628334659471473 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 14 DLD ENSG00000091140 UTR3 Human protein_coding chr7:107559918 chr7:107559911 . . 0 hm6A_associated_SNPs_9975 3 Benign Pyruvate dehydrogenase complex deficiency RCV000324559.1
921 chr7 107559911 107559911 1 + G A rs4564 107559918 + 107559898 107559938 41 TCAGTGCACTAATGTGTAAGACAAAAAGCTACTTATTGTAG TCAGTGCACTAATATGTAAGACAAAAAGCTACTTATTGTAG < 41bp 1 0.685832670264264 1 0.575717270374298 experiment 0.628334659471473 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 14 DLD ENSG00000091140 UTR3 Human protein_coding chr7:107559918 chr7:107559911 . . 0 hm6A_associated_SNPs_9975 3 Benign Leigh syndrome RCV000358247.1
922 chr7 116166704 116166704 1 + C T rs10029 116166719 + 116166699 116166739 41 CTGGTCAACCGCGACCCTAAACACCTCAACGATGACGTGGT CTGGTTAACCGCGACCCTAAACACCTCAACGATGACGTGGT < 41bp 1 0.41122997425762 1 0.978339731693268 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 6 CAV1 ENSG00000105974 CDS Human protein_coding chr7:116166719 chr7:116166704 synonymous SNV . 0 hm6A_associated_SNPs_9996 1 other not specified RCV000116582.4
923 chr7 116339642 116339642 1 + G A rs55985569 116339659 + 116339639 116339679 41 AGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGCGCCCTGG AGAACCCAGCCAGTGTCCTGACTGTGTGGTGAGCGCCCTGG < 41bp 1 0.605714188896654 1 0.964337468147278 experiment 0.788571622206692 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 4 MET ENSG00000105976 CDS Human protein_coding chr7:116339659 chr7:116339642 synonymous SNV . 0 hm6A_associated_SNPs_10010 1 Likely benign Renal cell carcinoma, papillary, 1 RCV000476494.1
924 chr7 116339672 116339672 1 + C T rs35775721 116339659 + 116339639 116339679 41 AGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGCGCCCTGG AGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGTGCCCTGG < 41bp 1 0.597143967605625 1 0.961617827415466 experiment 0.805712064788749 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 34 MET ENSG00000105976 CDS Human protein_coding chr7:116339659 chr7:116339672 synonymous SNV . 0 hm6A_associated_SNPs_10011 3 Benign not specified RCV000079497.6
925 chr7 116339672 116339672 1 + C T rs35775721 116339659 + 116339639 116339679 41 AGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGCGCCCTGG AGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGTGCCCTGG < 41bp 1 0.597143967605625 1 0.961617827415466 experiment 0.805712064788749 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 34 MET ENSG00000105976 CDS Human protein_coding chr7:116339659 chr7:116339672 synonymous SNV . 0 hm6A_associated_SNPs_10011 3 Benign Hereditary cancer-predisposing syndrome RCV000163270.1
926 chr7 116339672 116339672 1 + C T rs35775721 116339659 + 116339639 116339679 41 AGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGCGCCCTGG AGAGCCCAGCCAGTGTCCTGACTGTGTGGTGAGTGCCCTGG < 41bp 1 0.597143967605625 1 0.961617827415466 experiment 0.805712064788749 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 34 MET ENSG00000105976 CDS Human protein_coding chr7:116339659 chr7:116339672 synonymous SNV . 0 hm6A_associated_SNPs_10011 3 Benign Renal cell carcinoma, papillary, 1 RCV000370550.1
927 chr7 128489475 128489475 1 + C G rs193159707 128489468 + 128489448 128489488 41 CAGCCGGTGAGGGGAAGGTGACATGCACGGTGTCCACGCCG CAGCCGGTGAGGGGAAGGTGACATGCAGGGTGTCCACGCCG < 41bp 1 0.350139305395765 1 0.872007429599762 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 28 FLNC ENSG00000128591 CDS Human protein_coding chr7:128489468 chr7:128489475 nonsynonymous SNV 0.066 3 hm6A_associated_SNPs_10058 1 Benign not specified RCV000177456.1
928 chr7 141353748 141353748 1 + C T rs78124534 141353743 + 141353723 141353763 41 TTAAATATCACAACAATTTGACACCCTTCATTCATTTATAA TTAAATATCACAACAATTTGACACCTTTCATTCATTTATAA < 41bp 1 0.258492283485528 1 0.0370789468288422 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 26 AGK ENSG00000244701 ncRNA_intronic Human antisense chr7:141353743 chr7:141353748 . . 0 hm6A_associated_SNPs_10145 2 Uncertain significance Cataract and cardiomyopathy RCV000314853.1
929 chr7 141353748 141353748 1 + C T rs78124534 141353743 + 141353723 141353763 41 TTAAATATCACAACAATTTGACACCCTTCATTCATTTATAA TTAAATATCACAACAATTTGACACCTTTCATTCATTTATAA < 41bp 1 0.258492283485528 1 0.0370789468288422 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 26 AGK ENSG00000244701 ncRNA_intronic Human antisense chr7:141353743 chr7:141353748 . . 0 hm6A_associated_SNPs_10145 2 Uncertain significance Congenital cataract RCV000367448.1
930 chr8 1719510 1719510 1 + G A rs116605307 1719522 + 1719502 1719542 41 CAAGGCGCGTGGCCAGCAGAACTGGTGCTGGTTTCACATCA CAAGGCGCATGGCCAGCAGAACTGGTGCTGGTTTCACATCA < 41bp 1 0.725838277703178 1 0.974475741386414 experiment 0.548323444593644 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 9 CLN8 ENSG00000182372 CDS Human protein_coding chr8:1719522 chr8:1719510 nonsynonymous SNV 0.003 1 hm6A_associated_SNPs_10280 2 Benign not specified RCV000175909.2
931 chr8 1719510 1719510 1 + G A rs116605307 1719522 + 1719502 1719542 41 CAAGGCGCGTGGCCAGCAGAACTGGTGCTGGTTTCACATCA CAAGGCGCATGGCCAGCAGAACTGGTGCTGGTTTCACATCA < 41bp 1 0.725838277703178 1 0.974475741386414 experiment 0.548323444593644 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 9 CLN8 ENSG00000182372 CDS Human protein_coding chr8:1719522 chr8:1719510 nonsynonymous SNV 0.003 1 hm6A_associated_SNPs_10280 2 Likely benign Neuronal ceroid lipofuscinosis RCV000458077.1
932 chr8 1719538 1719538 1 + C T rs184988046 1719522 + 1719502 1719542 41 CAAGGCGCGTGGCCAGCAGAACTGGTGCTGGTTTCACATCA CAAGGCGCGTGGCCAGCAGAACTGGTGCTGGTTTCATATCA < 41bp 1 0.749172977510228 1 0.956221580505371 experiment 0.501654044979543 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 CLN8 ENSG00000182372 CDS Human protein_coding chr8:1719522 chr8:1719538 synonymous SNV . 0 hm6A_associated_SNPs_10281 1 Likely benign not specified RCV000424571.1
933 chr8 6299641 6299641 1 + G A rs2922828 6299651 + 6299631 6299671 41 TCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGT TCTGTGTGAAACACCTTTGAACATTTCACGTGATACTTTGT < 41bp 1 0.569371997361304 1 0.0219792425632477 experiment 0.861256005277392 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 11 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6299651 chr8:6299641 nonsynonymous SNV 0.761 0 hm6A_associated_SNPs_10296 2 Benign not specified RCV000146329.2
934 chr8 6299641 6299641 1 + G A rs2922828 6299651 + 6299631 6299671 41 TCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGT TCTGTGTGAAACACCTTTGAACATTTCACGTGATACTTTGT < 41bp 1 0.569371997361304 1 0.0219792425632477 experiment 0.861256005277392 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 11 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6299651 chr8:6299641 nonsynonymous SNV 0.761 0 hm6A_associated_SNPs_10296 2 Likely benign Primary Microcephaly, Recessive RCV000296022.1
935 chr8 6299654 6299654 1 + T C rs75741316 6299651 + 6299631 6299671 41 TCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGT TCTGTGTGAAGCACCTTTGAACACTTCACGTGATACTTTGT < 41bp 1 0.524786661147512 1 0.0158269703388214 experiment 0.950426677704976 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6299651 chr8:6299654 nonsynonymous SNV 0.705 0 hm6A_associated_SNPs_10297 2 Likely benign not specified RCV000146330.1
936 chr8 6299654 6299654 1 + T C rs75741316 6299651 + 6299631 6299671 41 TCTGTGTGAAGCACCTTTGAACATTTCACGTGATACTTTGT TCTGTGTGAAGCACCTTTGAACACTTCACGTGATACTTTGT < 41bp 1 0.524786661147512 1 0.0158269703388214 experiment 0.950426677704976 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6299651 chr8:6299654 nonsynonymous SNV 0.705 0 hm6A_associated_SNPs_10297 2 Uncertain significance Primary Microcephaly, Recessive RCV000350745.1
937 chr8 6302646 6302646 1 + C A rs548329168 6302645 + 6302625 6302665 41 TTTCCTGCGTTGGCAAAAAAACCAGAACAGTTGACATTACC TTTCCTGCGTTGGCAAAAAAAACAGAACAGTTGACATTACC Direct Loss 1 0.493739909468418 1 0.995389938354492 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 22 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302645 chr8:6302646 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10299 2 Uncertain significance Primary Microcephaly, Recessive RCV000328196.1
938 chr8 6302646 6302646 1 + C A rs548329168 6302645 + 6302625 6302665 41 TTTCCTGCGTTGGCAAAAAAACCAGAACAGTTGACATTACC TTTCCTGCGTTGGCAAAAAAAACAGAACAGTTGACATTACC Direct Loss 1 0.493739909468418 1 0.995389938354492 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 22 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302645 chr8:6302646 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10299 2 Uncertain significance not specified RCV000504368.1
939 chr8 6302646 6302646 1 + C A rs548329168 6302651 + 6302631 6302671 41 GCGTTGGCAAAAAAACCAGAACAGTTGACATTACCAATTTC GCGTTGGCAAAAAAAACAGAACAGTTGACATTACCAATTTC < 41bp 1 0.798879126772326 1 0.997251987457275 experiment 0.402241746455348 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 16 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302651 chr8:6302646 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10300 2 Uncertain significance Primary Microcephaly, Recessive RCV000328196.1
940 chr8 6302646 6302646 1 + C A rs548329168 6302651 + 6302631 6302671 41 GCGTTGGCAAAAAAACCAGAACAGTTGACATTACCAATTTC GCGTTGGCAAAAAAAACAGAACAGTTGACATTACCAATTTC < 41bp 1 0.798879126772326 1 0.997251987457275 experiment 0.402241746455348 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 16 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302651 chr8:6302646 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10300 2 Uncertain significance not specified RCV000504368.1
941 chr8 6302646 6302646 1 + C A rs548329168 6302658 + 6302638 6302678 41 CAAAAAAACCAGAACAGTTGACATTACCAATTTCACAGCAA CAAAAAAAACAGAACAGTTGACATTACCAATTTCACAGCAA < 41bp 1 0.77461747423908 1 0.996901392936707 experiment 0.450765051521841 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 9 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302658 chr8:6302646 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10301 2 Uncertain significance Primary Microcephaly, Recessive RCV000328196.1
942 chr8 6302646 6302646 1 + C A rs548329168 6302658 + 6302638 6302678 41 CAAAAAAACCAGAACAGTTGACATTACCAATTTCACAGCAA CAAAAAAAACAGAACAGTTGACATTACCAATTTCACAGCAA < 41bp 1 0.77461747423908 1 0.996901392936707 experiment 0.450765051521841 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 9 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302658 chr8:6302646 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10301 2 Uncertain significance not specified RCV000504368.1
943 chr8 6302671 6302671 1 + C T rs2920676 6302658 + 6302638 6302678 41 CAAAAAAACCAGAACAGTTGACATTACCAATTTCACAGCAA CAAAAAAACCAGAACAGTTGACATTACCAATTTTACAGCAA < 41bp 1 0.794720258853421 1 0.997425436973572 experiment 0.410559482293158 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 34 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302658 chr8:6302671 synonymous SNV . 0 hm6A_associated_SNPs_10302 2 Benign not specified RCV000082200.6
944 chr8 6302671 6302671 1 + C T rs2920676 6302658 + 6302638 6302678 41 CAAAAAAACCAGAACAGTTGACATTACCAATTTCACAGCAA CAAAAAAACCAGAACAGTTGACATTACCAATTTTACAGCAA < 41bp 1 0.794720258853421 1 0.997425436973572 experiment 0.410559482293158 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 34 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302658 chr8:6302671 synonymous SNV . 0 hm6A_associated_SNPs_10302 2 Benign Primary Microcephaly, Recessive RCV000382916.1
945 chr8 6302981 6302981 1 + A G rs17076894 6302986 + 6302966 6303006 41 GAAGGCGAAGCCCAGAGTGAACATGAGCCATGTTTTATAGT GAAGGCGAAGCCCAGGGTGAACATGAGCCATGTTTTATAGT < 41bp 1 0.761723115339514 1 0.994592368602753 experiment 0.476553769320972 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 16 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302986 chr8:6302981 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10304 1 Benign not specified RCV000146280.2
946 chr8 6303002 6303002 1 + A G rs372378731 6302986 + 6302966 6303006 41 GAAGGCGAAGCCCAGAGTGAACATGAGCCATGTTTTATAGT GAAGGCGAAGCCCAGAGTGAACATGAGCCATGTTTTGTAGT < 41bp 1 0.776048611254276 1 0.995287656784058 experiment 0.447902777491448 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 37 MCPH1 ENSG00000147316 CDS Human protein_coding chr8:6302986 chr8:6303002 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_10305 1 Likely benign not specified RCV000424278.1
947 chr8 11615928 11615928 1 + G A rs56208331 11615929 + 11615909 11615949 41 ACAGACCAGCTCCAAGCAGGACTCTTGGAACAGCCTGGTCT ACAGACCAGCTCCAAGCAGAACTCTTGGAACAGCCTGGTCT < 41bp 1 0.711169505619751 1 0.994247913360596 experiment 0.577660988760498 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 20 GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615929 chr8:11615928 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_10357 4 Pathogenic Atrial septal defect 2 RCV000009600.3
948 chr8 11615928 11615928 1 + G A rs56208331 11615929 + 11615909 11615949 41 ACAGACCAGCTCCAAGCAGGACTCTTGGAACAGCCTGGTCT ACAGACCAGCTCCAAGCAGAACTCTTGGAACAGCCTGGTCT < 41bp 1 0.711169505619751 1 0.994247913360596 experiment 0.577660988760498 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 20 GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615929 chr8:11615928 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_10357 4 Pathogenic Tetralogy of Fallot RCV000009601.3
949 chr8 11615928 11615928 1 + G A rs56208331 11615929 + 11615909 11615949 41 ACAGACCAGCTCCAAGCAGGACTCTTGGAACAGCCTGGTCT ACAGACCAGCTCCAAGCAGAACTCTTGGAACAGCCTGGTCT < 41bp 1 0.711169505619751 1 0.994247913360596 experiment 0.577660988760498 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 20 GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615929 chr8:11615928 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_10357 4 Uncertain significance Inborn genetic diseases RCV000190715.1
950 chr8 11615928 11615928 1 + G A rs56208331 11615929 + 11615909 11615949 41 ACAGACCAGCTCCAAGCAGGACTCTTGGAACAGCCTGGTCT ACAGACCAGCTCCAAGCAGAACTCTTGGAACAGCCTGGTCT < 41bp 1 0.711169505619751 1 0.994247913360596 experiment 0.577660988760498 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 20 GATA4 ENSG00000136574 CDS Human protein_coding chr8:11615929 chr8:11615928 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_10357 4 Benign not provided RCV000431077.1
951 chr8 11616338 11616338 1 + A C rs867858 11616336 + 11616316 11616356 41 CTAGCACCGAGGATCTGAGAACAAGCGGAGGGCCGGGCCCT CTAGCACCGAGGATCTGAGAACCAGCGGAGGGCCGGGCCCT < 41bp 1 0.0416763738503165 1 0.934000849723816 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 23 GATA4 ENSG00000136574 UTR3 Human protein_coding chr8:11616336 chr8:11616338 . . 0 hm6A_associated_SNPs_10358 1 Uncertain significance not provided RCV000128534.1
952 chr8 11616410 11616410 1 + C T rs1062219 11616426 + 11616406 11616446 41 GATGCGACGGGCCCCTGGGGACAGGCCCTTGCCCCATCCAT GATGTGACGGGCCCCTGGGGACAGGCCCTTGCCCCATCCAT < 41bp 1 0.113692428066894 1 0.906249225139618 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 GATA4 ENSG00000136574 UTR3 Human protein_coding chr8:11616426 chr8:11616410 . . 0 hm6A_associated_SNPs_10361 1 Uncertain significance not provided RCV000128535.1
953 chr8 19809435 19809435 1 + G A rs1121923 19809426 + 19809406 19809446 41 GGCTACACCAAACTGGTGGGACAGGATGTGGCCCGGTTTAT GGCTACACCAAACTGGTGGGACAGGATGTAGCCCGGTTTAT < 41bp 1 0.285345577809425 1 0.809465646743774 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 30 LPL ENSG00000175445 CDS Human protein_coding chr8:19809426 chr8:19809435 synonymous SNV . 0 hm6A_associated_SNPs_10424 1 Likely benign Hyperlipoproteinemia, type I RCV000356200.1
954 chr8 19823269 19823269 1 + C T rs191212278 19823284 + 19823264 19823304 41 TTTTCCGCGGCACGAATCAGACTCATCTACACAGCAGTATG TTTTCTGCGGCACGAATCAGACTCATCTACACAGCAGTATG < 41bp 1 0.284674398630089 1 0.627033591270447 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 6 LPL ENSG00000175445 UTR3 Human protein_coding chr8:19823284 chr8:19823269 . . 0 hm6A_associated_SNPs_10425 1 Uncertain significance Hyperlipoproteinemia, type I RCV000307917.1
955 chr8 27634589 27634589 1 + T C rs141631911 27634585 + 27634565 27634605 41 AGACTGTCAGTGAAAAAAAAACTTTTGCGACAAGGCAAGTG AGACTGTCAGTGAAAAAAAAACTTCTGCGACAAGGCAAGTG < 41bp 1 0.469511807561046 1 0.985256850719452 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 25 ESCO2 ENSG00000171320 CDS Human protein_coding chr8:27634585 chr8:27634589 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_10539 3 Benign not specified RCV000177103.1
956 chr8 27634589 27634589 1 + T C rs141631911 27634585 + 27634565 27634605 41 AGACTGTCAGTGAAAAAAAAACTTTTGCGACAAGGCAAGTG AGACTGTCAGTGAAAAAAAAACTTCTGCGACAAGGCAAGTG < 41bp 1 0.469511807561046 1 0.985256850719452 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 25 ESCO2 ENSG00000171320 CDS Human protein_coding chr8:27634585 chr8:27634589 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_10539 3 Benign not provided RCV000224021.1
957 chr8 27634589 27634589 1 + T C rs141631911 27634585 + 27634565 27634605 41 AGACTGTCAGTGAAAAAAAAACTTTTGCGACAAGGCAAGTG AGACTGTCAGTGAAAAAAAAACTTCTGCGACAAGGCAAGTG < 41bp 1 0.469511807561046 1 0.985256850719452 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 25 ESCO2 ENSG00000171320 CDS Human protein_coding chr8:27634585 chr8:27634589 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_10539 3 Likely benign Roberts-SC phocomelia syndrome RCV000290777.1
958 chr8 30938570 30938570 1 + G A rs11574222 30938586 + 30938566 30938606 41 CGTTGAAGATGAAACATGGGACCCAACACTTGATCATTTAG CGTTAAAGATGAAACATGGGACCCAACACTTGATCATTTAG < 41bp 1 0.459183365108684 1 0.989463150501251 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 5 WRN ENSG00000165392 CDS Human protein_coding chr8:30938586 chr8:30938570 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_10560 1 Uncertain significance Werner syndrome RCV000233788.2
959 chr8 31024570 31024570 1 + G A rs11574395 31024580 + 31024560 31024600 41 CAGAATGTTAGTTCCTGAAAACATTGACACGTACCTTATCC CAGAATGTTAATTCCTGAAAACATTGACACGTACCTTATCC < 41bp 1 0.712209097499831 1 0.669608414173126 experiment 0.575581805000338 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 WRN ENSG00000165392 CDS Human protein_coding chr8:31024580 chr8:31024570 nonsynonymous SNV 0.698 1 hm6A_associated_SNPs_10561 2 not provided not specified RCV000122297.1
960 chr8 31024570 31024570 1 + G A rs11574395 31024580 + 31024560 31024600 41 CAGAATGTTAGTTCCTGAAAACATTGACACGTACCTTATCC CAGAATGTTAATTCCTGAAAACATTGACACGTACCTTATCC < 41bp 1 0.712209097499831 1 0.669608414173126 experiment 0.575581805000338 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 WRN ENSG00000165392 CDS Human protein_coding chr8:31024580 chr8:31024570 nonsynonymous SNV 0.698 1 hm6A_associated_SNPs_10561 2 Benign Werner syndrome RCV000234534.2
961 chr8 37602108 37602108 1 + C T rs16887018 37602125 + 37602105 37602145 41 GAACTATACTGCTGACTATGACAAGGCCCTCATCTTCAACA GAATTATACTGCTGACTATGACAAGGCCCTCATCTTCAACA < 41bp 1 0.755200466445372 1 0.966573476791382 experiment 0.489599067109256 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 4 ERLIN2 ENSG00000147475 CDS Human protein_coding chr8:37602125 chr8:37602108 synonymous SNV . 0 hm6A_associated_SNPs_10582 2 other not specified RCV000117002.3
962 chr8 37602108 37602108 1 + C T rs16887018 37602125 + 37602105 37602145 41 GAACTATACTGCTGACTATGACAAGGCCCTCATCTTCAACA GAATTATACTGCTGACTATGACAAGGCCCTCATCTTCAACA < 41bp 1 0.755200466445372 1 0.966573476791382 experiment 0.489599067109256 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 4 ERLIN2 ENSG00000147475 CDS Human protein_coding chr8:37602125 chr8:37602108 synonymous SNV . 0 hm6A_associated_SNPs_10582 2 Benign Spastic paraplegia RCV000465138.1
963 chr8 43053062 43053062 1 + G C rs148632988 43053071 + 43053051 43053091 41 TGGATGTGAAGGGGCTGTGGACAGGAACCCCATTCTTTTAT TGGATGTGAAGCGGCTGTGGACAGGAACCCCATTCTTTTAT < 41bp 1 0.373483305718405 1 0.847285449504852 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 HGSNAT ENSG00000165102 CDS Human protein_coding chr8:43053071 chr8:43053062 nonsynonymous SNV 0.940 1 hm6A_associated_SNPs_10655 2 Uncertain significance Sanfilippo syndrome RCV000349230.1
964 chr8 43053062 43053062 1 + G C rs148632988 43053071 + 43053051 43053091 41 TGGATGTGAAGGGGCTGTGGACAGGAACCCCATTCTTTTAT TGGATGTGAAGCGGCTGTGGACAGGAACCCCATTCTTTTAT < 41bp 1 0.373483305718405 1 0.847285449504852 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 HGSNAT ENSG00000165102 CDS Human protein_coding chr8:43053071 chr8:43053062 nonsynonymous SNV 0.940 1 hm6A_associated_SNPs_10655 2 Likely benign not specified RCV000432503.1
965 chr8 48878875 48878875 1 + C T rs142732823 48878867 + 48878847 48878887 41 CACGACCCGGGTGGAGATGGACCGCGGCCGCATTGCAGAGC CACGACCCGGGTGGAGATGGACCGCGGCTGCATTGCAGAGC < 41bp 1 0.209945192788191 1 0.793725252151489 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control 29 MCM4 ENSG00000104738 CDS Human protein_coding chr8:48878867 chr8:48878875 nonsynonymous SNV 0.031 4 hm6A_associated_SNPs_10659 1 Uncertain significance Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000352214.1
966 chr8 48889875 48889875 1 + T C rs568975576 48889861 + 48889841 48889881 41 AAAAACCTGCCAATTTTCAAACATACCGTAGAGATTATTTT AAAAACCTGCCAATTTTCAAACATACCGTAGAGACTATTTT < 41bp 1 0.269372278535638 1 0.0379415154457092 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 35 MCM4 ENSG00000104738 UTR3 Human protein_coding chr8:48889861 chr8:48889875 . . 0 hm6A_associated_SNPs_10661 1 Uncertain significance Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000284630.1
967 chr8 48890472 48890472 1 + A C rs11553127 48890457 + 48890437 48890477 41 ACTTTACCCTAATACATAAAACTTTTTCCTAAATAAATGAT ACTTTACCCTAATACATAAAACTTTTTCCTAAATACATGAT < 41bp 1 0.166348140613729 1 0.0804937481880188 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 36 MCM4 ENSG00000104738 UTR3 Human protein_coding chr8:48890457 chr8:48890472 . . 0 hm6A_associated_SNPs_10662 1 Uncertain significance Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000399981.1
968 chr8 61654685 61654685 1 + C A rs554647169 61654684 + 61654664 61654704 41 CCTTTTATTGCCACCTCAGGACCTGGCCACTTGTCCCACGT CCTTTTATTGCCACCTCAGGAACTGGCCACTTGTCCCACGT Direct Loss 1 0.673057734574466 1 0.969549655914307 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 22 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61654684 chr8:61654685 nonsynonymous SNV 0.985 1 hm6A_associated_SNPs_10690 3 Likely benign not specified RCV000194303.1
969 chr8 61654685 61654685 1 + C A rs554647169 61654684 + 61654664 61654704 41 CCTTTTATTGCCACCTCAGGACCTGGCCACTTGTCCCACGT CCTTTTATTGCCACCTCAGGAACTGGCCACTTGTCCCACGT Direct Loss 1 0.673057734574466 1 0.969549655914307 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 22 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61654684 chr8:61654685 nonsynonymous SNV 0.985 1 hm6A_associated_SNPs_10690 3 other CHARGE association RCV000258106.2
970 chr8 61654685 61654685 1 + C A rs554647169 61654684 + 61654664 61654704 41 CCTTTTATTGCCACCTCAGGACCTGGCCACTTGTCCCACGT CCTTTTATTGCCACCTCAGGAACTGGCCACTTGTCCCACGT Direct Loss 1 0.673057734574466 1 0.969549655914307 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 22 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61654684 chr8:61654685 nonsynonymous SNV 0.985 1 hm6A_associated_SNPs_10690 3 Likely benign Hypogonadism with anosmia RCV000297563.1
971 chr8 61655170 61655170 1 + A G rs111238892 61655156 + 61655136 61655176 41 ATCCTTCACAGCCTCAGGGAACTTATGCCTCTCCACCTCCC ATCCTTCACAGCCTCAGGGAACTTATGCCTCTCCGCCTCCC < 41bp 1 0.755542997631859 1 0.897585093975067 experiment 0.488914004736281 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 35 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61655156 chr8:61655170 synonymous SNV . 0 hm6A_associated_SNPs_10692 1 Benign not specified RCV000242796.2
972 chr8 61655410 61655410 1 + G C rs186394299 61655405 + 61655385 61655425 41 CCTCGGCACCAAGGGAATTGACTGGGCACATGAGGCCAAAT CCTCGGCACCAAGGGAATTGACTGGCCACATGAGGCCAAAT < 41bp 1 0.799712932235718 1 0.965333342552185 experiment 0.400574135528565 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 26 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61655405 chr8:61655410 synonymous SNV . 0 hm6A_associated_SNPs_10693 3 other not specified RCV000081819.5
973 chr8 61655410 61655410 1 + G C rs186394299 61655405 + 61655385 61655425 41 CCTCGGCACCAAGGGAATTGACTGGGCACATGAGGCCAAAT CCTCGGCACCAAGGGAATTGACTGGCCACATGAGGCCAAAT < 41bp 1 0.799712932235718 1 0.965333342552185 experiment 0.400574135528565 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 26 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61655405 chr8:61655410 synonymous SNV . 0 hm6A_associated_SNPs_10693 3 other CHARGE association RCV000340199.1
974 chr8 61655410 61655410 1 + G C rs186394299 61655405 + 61655385 61655425 41 CCTCGGCACCAAGGGAATTGACTGGGCACATGAGGCCAAAT CCTCGGCACCAAGGGAATTGACTGGCCACATGAGGCCAAAT < 41bp 1 0.799712932235718 1 0.965333342552185 experiment 0.400574135528565 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 26 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61655405 chr8:61655410 synonymous SNV . 0 hm6A_associated_SNPs_10693 3 Likely benign Hypogonadism with anosmia RCV000373805.1
975 chr8 68102977 68102977 1 + T C rs1808140 68102990 + 68102970 68103010 41 GAACAAATGGAAAGGACTAGACATTGTATGTATGAGACTTT GAACAAACGGAAAGGACTAGACATTGTATGTATGAGACTTT < 41bp 1 0.151690816289711 1 0.493897438049316 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 8 CSPP1 ENSG00000104218 CDS Human protein_coding chr8:68102990 chr8:68102977 nonsynonymous SNV 0.996 0 hm6A_associated_SNPs_10721 1 Benign not specified RCV000432483.1
976 chr8 74893757 74893757 1 + C G rs35564486 74893756 + 74893736 74893776 41 TAATCCAGTGCTCTTTCCAAACCGTGAAGACTATATCCATC TAATCCAGTGCTCTTTCCAAAGCGTGAAGACTATATCCATC Direct Loss 1 0.645177874734153 1 0.987131476402283 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 22 TMEM70 ENSG00000175606 CDS Human protein_coding chr8:74893756 chr8:74893757 nonsynonymous SNV 0.081 1 hm6A_associated_SNPs_10728 2 Benign not specified RCV000125543.2
977 chr8 74893757 74893757 1 + C G rs35564486 74893756 + 74893736 74893776 41 TAATCCAGTGCTCTTTCCAAACCGTGAAGACTATATCCATC TAATCCAGTGCTCTTTCCAAAGCGTGAAGACTATATCCATC Direct Loss 1 0.645177874734153 1 0.987131476402283 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 22 TMEM70 ENSG00000175606 CDS Human protein_coding chr8:74893756 chr8:74893757 nonsynonymous SNV 0.081 1 hm6A_associated_SNPs_10728 2 Likely benign not provided RCV000440340.1
978 chr8 75278249 75278249 1 + C T rs115466662 75278236 + 75278216 75278256 41 TTTATGTCACTCTGTTAGAAACAAGAACTGAGTCGTGAAGA TTTATGTCACTCTGTTAGAAACAAGAACTGAGTTGTGAAGA < 41bp 1 0.0887435417105711 1 0.0959663093090057 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 34 GDAP1 ENSG00000104381 UTR3 Human protein_coding chr8:75278236 chr8:75278249 . . 0 hm6A_associated_SNPs_10729 2 Likely benign Charcot-Marie-Tooth, Intermediate RCV000272511.1
979 chr8 75278249 75278249 1 + C T rs115466662 75278236 + 75278216 75278256 41 TTTATGTCACTCTGTTAGAAACAAGAACTGAGTCGTGAAGA TTTATGTCACTCTGTTAGAAACAAGAACTGAGTTGTGAAGA < 41bp 1 0.0887435417105711 1 0.0959663093090057 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 34 GDAP1 ENSG00000104381 UTR3 Human protein_coding chr8:75278236 chr8:75278249 . . 0 hm6A_associated_SNPs_10729 2 Likely benign Charcot-Marie-Tooth with Vocal Cord Paresis RCV000367103.1
980 chr8 86393230 86393230 1 + A G rs73263450 86393250 + 86393230 86393270 41 ATGGTAGTAGTTTTTCTGTAACACAGAATATAGGATAAGAA GTGGTAGTAGTTTTTCTGTAACACAGAATATAGGATAAGAA < 41bp 1 0.133090296406043 1 0.00656187534332275 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 CA2 ENSG00000104267 UTR3 Human protein_coding chr8:86393250 chr8:86393230 . . 0 hm6A_associated_SNPs_10751 1 Likely benign Osteopetrosis with renal tubular acidosis RCV000289207.1
981 chr8 94828699 94828699 1 + T C rs55850117 94828704 + 94828684 94828724 41 CCTGAATAAATAACTTAAAGACTCAGTATAATCATGGCCAA CCTGAATAAATAACTCAAAGACTCAGTATAATCATGGCCAA < 41bp 1 0.559174747595108 1 0.409944325685501 experiment 0.881650504809785 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 16 TMEM67 ENSG00000164953 UTR3 Human protein_coding chr8:94828704 chr8:94828699 . . 0 hm6A_associated_SNPs_10773 1 Benign not specified RCV000244490.1
982 chr8 94936269 94936269 1 + C G rs551728387 94936268 + 94936248 94936288 41 CTCTTGGTTAAAGTGAAGAAACAGTACTGTTCACACCTTTC CTCTTGGTTAAAGTGAAGAAAGAGTACTGTTCACACCTTTC Direct Loss 1 0.181396692728474 1 0.0252458155155182 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 PDP1 ENSG00000164951 UTR3 Human protein_coding chr8:94936268 chr8:94936269 . . 0 hm6A_associated_SNPs_10779 1 Uncertain significance Pyruvate dehydrogenase phosphatase deficiency RCV000306423.1
983 chr8 94936467 94936467 1 + T C rs78884124 94936465 + 94936445 94936485 41 TTTGTTTTTGTGATTATTTGACTGGAATGCTTCTTAAGTGG TTTGTTTTTGTGATTATTTGACCGGAATGCTTCTTAAGTGG < 41bp 1 0.0639720443556435 1 0.539814114570618 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 PDP1 ENSG00000164951 UTR3 Human protein_coding chr8:94936465 chr8:94936467 . . 0 hm6A_associated_SNPs_10780 1 Uncertain significance Pyruvate dehydrogenase phosphatase deficiency RCV000395144.1
984 chr8 94937388 94937388 1 + A T rs189435075 94937394 + 94937374 94937414 41 CACATTTTTTGGGGATATGAACTAGATGTTCAAGAACTCCT CACATTTTTTGGGGTTATGAACTAGATGTTCAAGAACTCCT < 41bp 1 0.225788759284611 1 0.866077065467834 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 15 PDP1 ENSG00000164951 UTR3 Human protein_coding chr8:94937394 chr8:94937388 . . 0 hm6A_associated_SNPs_10784 1 Uncertain significance Pyruvate dehydrogenase phosphatase deficiency RCV000325462.1
985 chr8 94937465 94937465 1 + C A rs111728711 94937478 + 94937458 94937498 41 TTTGTTTCAATTGAAAATAGACTCAGGAAGATTGCTGCTCA TTTGTTTAAATTGAAAATAGACTCAGGAAGATTGCTGCTCA < 41bp 1 0.202848600434205 1 0.92793345451355 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 8 PDP1 ENSG00000164951 UTR3 Human protein_coding chr8:94937478 chr8:94937465 . . 0 hm6A_associated_SNPs_10785 1 Uncertain significance Pyruvate dehydrogenase phosphatase deficiency RCV000382137.1
986 chr8 94937637 94937637 1 + G C rs116788695 94937643 + 94937623 94937663 41 ATTTATTTCTAAATGTTTTGACTGGGCATTTTTCTTTTAAT ATTTATTTCTAAATCTTTTGACTGGGCATTTTTCTTTTAAT < 41bp 1 0.0930656940442692 1 0.937749803066254 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 15 PDP1 ENSG00000164951 UTR3 Human protein_coding chr8:94937643 chr8:94937637 . . 0 hm6A_associated_SNPs_10786 1 Likely benign Pyruvate dehydrogenase phosphatase deficiency RCV000296934.1
987 chr8 94937708 94937708 1 + T A rs77734416 94937722 + 94937702 94937742 41 TACTATTTGAATATTCTTGAACACCACCACTGAAGAGTTTC TACTATATGAATATTCTTGAACACCACCACTGAAGAGTTTC < 41bp 1 0.173064674867436 1 0.922394692897797 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 7 PDP1 ENSG00000164951 UTR3 Human protein_coding chr8:94937722 chr8:94937708 . . 0 hm6A_associated_SNPs_10787 1 Uncertain significance Pyruvate dehydrogenase phosphatase deficiency RCV000398192.1
988 chr8 100493904 100493904 1 + A G rs16897391 100493923 + 100493903 100493943 41 TATCTCCAACCTCTCCAGAGACCATGGCAGGGCCTGTTCCT TGTCTCCAACCTCTCCAGAGACCATGGCAGGGCCTGTTCCT < 41bp 1 0.11226484217932 1 0.759796619415283 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 VPS13B ENSG00000132549 CDS Human protein_coding chr8:100493923 chr8:100493904 synonymous SNV . 0 hm6A_associated_SNPs_10824 2 Likely benign not specified RCV000118838.2
989 chr8 100493904 100493904 1 + A G rs16897391 100493923 + 100493903 100493943 41 TATCTCCAACCTCTCCAGAGACCATGGCAGGGCCTGTTCCT TGTCTCCAACCTCTCCAGAGACCATGGCAGGGCCTGTTCCT < 41bp 1 0.11226484217932 1 0.759796619415283 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 VPS13B ENSG00000132549 CDS Human protein_coding chr8:100493923 chr8:100493904 synonymous SNV . 0 hm6A_associated_SNPs_10824 2 Likely benign Cohen syndrome RCV000396252.1
990 chr8 101253184 101253184 1 + G A rs1788190 101253195 + 101253175 101253215 41 GGACCTTTCGGACACACCAAACAACCATTTTACTTTAGAAG GGACCTTTCAGACACACCAAACAACCATTTTACTTTAGAAG < 41bp 1 0.783668406891092 1 0.892478466033936 experiment 0.432663186217817 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 10 SPAG1 ENSG00000104450 CDS Human protein_coding chr8:101253195 chr8:101253184 synonymous SNV . 0 hm6A_associated_SNPs_10829 1 Benign not specified RCV000246772.1
991 chr8 106815474 106815474 1 + C T rs16873741 106815469 + 106815449 106815489 41 GGACTGAAACAAGATGAGAGACCTGCTGCCAACCCACAGCA GGACTGAAACAAGATGAGAGACCTGTTGCCAACCCACAGCA < 41bp 1 0.306254290798949 1 0.999320268630981 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 ZFPM2 ENSG00000169946 CDS Human protein_coding chr8:106815469 chr8:106815474 nonsynonymous SNV 0.160 1 hm6A_associated_SNPs_10843 1 Benign 46,XY sex reversal 9 RCV000464502.1
992 chr8 145699149 145699149 1 + C A rs576710211 145699161 + 145699141 145699181 41 TTATCCCCCCCACCACCAGGACCATGTAGGGTGCAGTCTTT TTATCCCCACCACCACCAGGACCATGTAGGGTGCAGTCTTT < 41bp 1 0.767150431814205 1 0.711959302425385 experiment 0.46569913637159 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 9 FOXH1;KIFC2 ENSG00000160973;ENSG00000167702 UTR3 Human other chr8:145699161 chr8:145699149 . . 0 hm6A_associated_SNPs_10977 1 Likely benign Holoprosencephaly RCV000282528.1
993 chr8 145699310 145699310 1 + G A rs74360910 145699318 + 145699298 145699338 41 AGGGGAGGTGACGGCTGGTGACTGATGGATGGGTAGTGGGC AGGGGAGGTGACAGCTGGTGACTGATGGATGGGTAGTGGGC < 41bp 1 0.796759739359207 1 0.727060675621033 experiment 0.406480521281587 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 13 FOXH1;KIFC2 ENSG00000160973;ENSG00000167702 UTR3 Human other chr8:145699318 chr8:145699310 . . 0 hm6A_associated_SNPs_10978 1 Likely benign Holoprosencephaly RCV000378246.1
994 chr9 464331 464331 1 + T C rs10974618 464311 + 464291 464331 41 TGGGACATTTGCCACCCAGGACTGACTGTACACTCCCTGAT TGGGACATTTGCCACCCAGGACTGACTGTACACTCCCTGAC < 41bp 1 0.630766403888716 1 0.998063325881958 experiment 0.738467192222569 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 41 DOCK8 ENSG00000227155 ncRNA_intronic Human antisense chr9:464311 chr9:464331 . . 0 hm6A_associated_SNPs_10995 1 Likely benign Hyper-IgE syndrome RCV000298199.1
995 chr9 464331 464331 1 + T C rs10974618 464315 + 464295 464335 41 ACATTTGCCACCCAGGACTGACTGTACACTCCCTGATCAGC ACATTTGCCACCCAGGACTGACTGTACACTCCCTGACCAGC < 41bp 1 0.537197353420405 1 0.995762228965759 experiment 0.925605293159191 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 37 DOCK8 ENSG00000227155 ncRNA_intronic Human antisense chr9:464315 chr9:464331 . . 0 hm6A_associated_SNPs_10996 1 Likely benign Hyper-IgE syndrome RCV000298199.1
996 chr9 2032972 2032972 1 + C T rs181403075 2032989 + 2032969 2033009 41 TGACAAGGGGATTGTAGAAGACATCCATTGTGGATCCATGA TGATAAGGGGATTGTAGAAGACATCCATTGTGGATCCATGA < 41bp 1 0.695877231368684 1 0.111651480197906 experiment 0.608245537262632 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control 4 SMARCA2 ENSG00000080503 CDS Human protein_coding chr9:2032989 chr9:2032972 synonymous SNV . 0 hm6A_associated_SNPs_11000 1 Likely benign Nicolaides-Baraitser syndrome RCV000339098.1
997 chr9 4985542 4985542 1 + T C rs2274472 4985558 + 4985538 4985578 41 CCCGTCCCGGGGCTTCGCAGACCTTGACCCGCCGGGTAGGA CCCGCCCCGGGGCTTCGCAGACCTTGACCCGCCGGGTAGGA < 41bp 1 0.140995324051304 1 0.662862300872803 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 5 JAK2 ENSG00000096968 UTR5 Human protein_coding chr9:4985558 chr9:4985542 . . 0 hm6A_associated_SNPs_11009 1 Benign Budd-Chiari syndrome RCV000338531.1
998 chr9 5126843 5126843 1 + A G rs144726392 5126862 + 5126842 5126882 41 TATATTTCACATTGCTGTGGACTATTATTACATATATCATT TGTATTTCACATTGCTGTGGACTATTATTACATATATCATT < 41bp 1 0.524230026722157 1 0.947389662265778 experiment 0.951539946555685 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 2 JAK2 ENSG00000096968 UTR3 Human protein_coding chr9:5126862 chr9:5126843 . . 0 hm6A_associated_SNPs_11011 1 Uncertain significance Budd-Chiari syndrome RCV000360618.1
999 chr9 21862272 21862272 1 + C A rs78195856 21862271 + 21862251 21862291 41 ATTTTAAGGGGGAAAAAAAAACCCACCATTCTCTTCTCCCC ATTTTAAGGGGGAAAAAAAAAACCACCATTCTCTTCTCCCC Direct Loss 1 0.446495919334353 1 0.415039479732513 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 22 MTAP ENSG00000099810 UTR3 Human protein_coding chr9:21862271 chr9:21862272 . . 0 hm6A_associated_SNPs_11053 1 Benign Diaphyseal medullary stenosis with malignant fibrous histiocytoma RCV000396754.1
1000 chr9 21864292 21864292 1 + T G rs529226542 21864310 + 21864290 21864330 41 CTTGAGGATATTGTTGAAGAACACTTCCTGGAACACTTCTC CTGGAGGATATTGTTGAAGAACACTTCCTGGAACACTTCTC < 41bp 1 0.0742535543285776 1 0.139831900596619 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 MTAP ENSG00000099810 UTR3 Human protein_coding chr9:21864310 chr9:21864292 . . 0 hm6A_associated_SNPs_11055 1 Uncertain significance Diaphyseal medullary stenosis with malignant fibrous histiocytoma RCV000281927.1
1001 chr9 21864552 21864552 1 + A G rs10123713 21864567 + 21864547 21864587 41 TTTTCATGGTTTTGAGAATGACATCCTGGCCCTGTGGTCCC TTTTCGTGGTTTTGAGAATGACATCCTGGCCCTGTGGTCCC < 41bp 1 0.0812309953123007 1 0.0627263784408569 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;Control 6 MTAP ENSG00000099810 UTR3 Human protein_coding chr9:21864567 chr9:21864552 . . 0 hm6A_associated_SNPs_11056 1 Benign Diaphyseal medullary stenosis with malignant fibrous histiocytoma RCV000394431.1
1002 chr9 37422763 37422763 1 + C T rs147185003 37422753 + 37422733 37422773 41 GCGGCTGCACTGCGGATGAGACCGGTGCGACTCATGAAGGT GCGGCTGCACTGCGGATGAGACCGGTGCGATTCATGAAGGT < 41bp 1 0.568009775390031 1 0.491103053092957 experiment 0.863980449219938 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 GRHPR ENSG00000137106 CDS Human protein_coding chr9:37422753 chr9:37422763 nonsynonymous SNV 0.614 2 hm6A_associated_SNPs_11126 1 Uncertain significance Primary hyperoxaluria RCV000282740.1
1003 chr9 37436754 37436754 1 + C T rs142356700 37436767 + 37436747 37436787 41 GGGGAGCCGATGCCTAGTGAACTCAAGCTGTAGCCAAACAG GGGGAGCTGATGCCTAGTGAACTCAAGCTGTAGCCAAACAG < 41bp 1 0.574659373360387 1 0.541464686393738 experiment 0.850681253279226 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 8 GRHPR ENSG00000137106 CDS Human protein_coding chr9:37436767 chr9:37436754 nonsynonymous SNV 0.999 3 hm6A_associated_SNPs_11129 1 Uncertain significance Primary hyperoxaluria RCV000266993.1
1004 chr9 37436755 37436755 1 + G A rs76299266 37436767 + 37436747 37436787 41 GGGGAGCCGATGCCTAGTGAACTCAAGCTGTAGCCAAACAG GGGGAGCCAATGCCTAGTGAACTCAAGCTGTAGCCAAACAG < 41bp 1 0.588532658016664 1 0.666983664035797 experiment 0.822934683966671 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 9 GRHPR ENSG00000137106 CDS Human protein_coding chr9:37436767 chr9:37436755 synonymous SNV . 0 hm6A_associated_SNPs_11130 2 Uncertain significance Primary hyperoxaluria, type II RCV000186436.1
1005 chr9 37436755 37436755 1 + G A rs76299266 37436767 + 37436747 37436787 41 GGGGAGCCGATGCCTAGTGAACTCAAGCTGTAGCCAAACAG GGGGAGCCAATGCCTAGTGAACTCAAGCTGTAGCCAAACAG < 41bp 1 0.588532658016664 1 0.666983664035797 experiment 0.822934683966671 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 9 GRHPR ENSG00000137106 CDS Human protein_coding chr9:37436767 chr9:37436755 synonymous SNV . 0 hm6A_associated_SNPs_11130 2 Uncertain significance Primary hyperoxaluria RCV000320684.1
1006 chr9 37436925 37436925 1 + A G rs1057507 37436936 + 37436916 37436956 41 ACTTGTCACATTGGTGTTGGACACATTTGCGCCAAAAGTAT ACTTGTCACGTTGGTGTTGGACACATTTGCGCCAAAAGTAT < 41bp 1 0.274450863233227 1 0.262618750333786 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 10 GRHPR ENSG00000137106 UTR3 Human protein_coding chr9:37436936 chr9:37436925 . . 0 hm6A_associated_SNPs_11131 1 Likely benign Primary hyperoxaluria RCV000261886.1
1007 chr9 38395940 38395940 1 + T C rs2228094 38395960 + 38395940 38395980 41 TGGGCACGTGGCTGAAGGTGACCGGGCTGATGTGGATCGGG CGGGCACGTGGCTGAAGGTGACCGGGCTGATGTGGATCGGG < 41bp 1 0.57898614964327 1 0.99637496471405 experiment 0.84202770071346 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 ALDH1B1 ENSG00000137124 CDS Human protein_coding chr9:38395960 chr9:38395940 synonymous SNV . 0 hm6A_associated_SNPs_11140 1 Benign not specified RCV000123605.1
1008 chr9 38396372 38396372 1 + G A rs145426005 38396385 + 38396365 38396405 41 TTATGAAGGTGGCAGAGCAGACCCCCCTCTCTGCCCTGTAT TTATGAAAGTGGCAGAGCAGACCCCCCTCTCTGCCCTGTAT < 41bp 1 0.613097567852648 1 0.991948485374451 experiment 0.773804864294704 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 8 ALDH1B1 ENSG00000137124 CDS Human protein_coding chr9:38396385 chr9:38396372 synonymous SNV . 0 hm6A_associated_SNPs_11143 1 Benign not specified RCV000123609.1
1009 chr9 71650692 71650692 1 + G A rs145006100 71650705 + 71650685 71650725 41 AGACCCGGAGCAGCATGTGGACTCTCGGGCGCCGCGCAGTA AGACCCGAAGCAGCATGTGGACTCTCGGGCGCCGCGCAGTA < 41bp 1 0.375343744051874 1 0.940117955207825 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 8 FXN ENSG00000165060 UTR5 Human protein_coding chr9:71650705 chr9:71650692 . . 0 hm6A_associated_SNPs_11149 1 Benign not specified RCV000173069.1
1010 chr9 71836158 71836158 1 + G A rs150883816 71836161 + 71836141 71836181 41 CGACTTTGGGCCATCCCGGGACCGGGACCGTGACCGCAGCC CGACTTTGGGCCATCCCAGGACCGGGACCGTGACCGCAGCC < 41bp 1 0.600109495598366 1 0.999004900455475 experiment 0.799781008803269 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 18 TJP2 ENSG00000119139 CDS Human protein_coding chr9:71836161 chr9:71836158 nonsynonymous SNV 0.024 1 hm6A_associated_SNPs_11150 1 other not specified RCV000152019.2
1011 chr9 71840944 71840944 1 + G C rs78681604 71840960 + 71840940 71840980 41 CAATGGGACTGTAACTGAGAACATGTCTTTAACGGATGCTC CAATCGGACTGTAACTGAGAACATGTCTTTAACGGATGCTC < 41bp 1 0.457696618658643 1 0.522468864917755 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 5 TJP2 ENSG00000119139 CDS Human protein_coding chr9:71840960 chr9:71840944 nonsynonymous SNV 0.989 4 hm6A_associated_SNPs_11151 1 Benign not specified RCV000248649.1
1012 chr9 71840972 71840972 1 + C T rs77321498 71840960 + 71840940 71840980 41 CAATGGGACTGTAACTGAGAACATGTCTTTAACGGATGCTC CAATGGGACTGTAACTGAGAACATGTCTTTAATGGATGCTC < 41bp 1 0.471983165812254 1 0.108123689889908 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 33 TJP2 ENSG00000119139 CDS Human protein_coding chr9:71840960 chr9:71840972 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_11152 2 Benign not specified RCV000155394.1
1013 chr9 71840972 71840972 1 + C T rs77321498 71840960 + 71840940 71840980 41 CAATGGGACTGTAACTGAGAACATGTCTTTAACGGATGCTC CAATGGGACTGTAACTGAGAACATGTCTTTAATGGATGCTC < 41bp 1 0.471983165812254 1 0.108123689889908 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 33 TJP2 ENSG00000119139 CDS Human protein_coding chr9:71840960 chr9:71840972 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_11152 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000278485.1
1014 chr9 71863051 71863051 1 + G A rs139276234 71863061 + 71863041 71863081 41 TGAAGGAGGCGCCTACACTGACAATGAGCTGGATGAGCCAG TGAAGGAGGCACCTACACTGACAATGAGCTGGATGAGCCAG < 41bp 1 0.667323802728296 1 0.99918007850647 experiment 0.665352394543409 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 11 TJP2 ENSG00000119139 CDS Human protein_coding chr9:71863061 chr9:71863051 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_11153 1 Uncertain significance not specified RCV000358685.1
1015 chr9 71863070 71863070 1 + T C rs28556975 71863061 + 71863041 71863081 41 TGAAGGAGGCGCCTACACTGACAATGAGCTGGATGAGCCAG TGAAGGAGGCGCCTACACTGACAATGAGCCGGATGAGCCAG < 41bp 1 0.704068946890778 1 0.99904453754425 experiment 0.591862106218443 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 30 TJP2 ENSG00000119139 CDS Human protein_coding chr9:71863061 chr9:71863070 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_11154 2 Benign not specified RCV000155437.2
1016 chr9 71863070 71863070 1 + T C rs28556975 71863061 + 71863041 71863081 41 TGAAGGAGGCGCCTACACTGACAATGAGCTGGATGAGCCAG TGAAGGAGGCGCCTACACTGACAATGAGCCGGATGAGCCAG < 41bp 1 0.704068946890778 1 0.99904453754425 experiment 0.591862106218443 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 30 TJP2 ENSG00000119139 CDS Human protein_coding chr9:71863061 chr9:71863070 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_11154 2 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000299392.1
1017 chr9 79910595 79910595 1 + C A rs138687767 79910585 + 79910565 79910605 41 CAGAATGGCACTGGATATTAACATCAAAGCCCCAGTTGTGG CAGAATGGCACTGGATATTAACATCAAAGCACCAGTTGTGG < 41bp 1 0.517765675170021 1 0.627779126167297 experiment 0.964468649659958 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 31 VPS13A ENSG00000197969 CDS Human protein_coding chr9:79910585 chr9:79910595 synonymous SNV . 0 hm6A_associated_SNPs_11173 1 Uncertain significance Choreoacanthocytosis RCV000361066.1
1018 chr9 79938036 79938036 1 + C T rs149694033 79938053 + 79938033 79938073 41 CGACGTCTGTACACTGTAAGACACAGAGAGTCTGGCGTTGA CGATGTCTGTACACTGTAAGACACAGAGAGTCTGGCGTTGA < 41bp 1 0.618317427979629 1 0.733116030693054 experiment 0.763365144040743 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 VPS13A ENSG00000197969 CDS Human protein_coding chr9:79938053 chr9:79938036 nonsynonymous SNV 0.984 1 hm6A_associated_SNPs_11174 1 Uncertain significance Choreoacanthocytosis RCV000310297.1
1019 chr9 80919826 80919826 1 + A G rs116577685 80919840 + 80919820 80919860 41 ATAAATATCGTTCACCCTAAACTTGGGAGTTATACAAGTAA ATAAATGTCGTTCACCCTAAACTTGGGAGTTATACAAGTAA < 41bp 1 0.157873417225213 1 0.0211930871009827 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 7 PSAT1 ENSG00000135069 CDS Human protein_coding chr9:80919840 chr9:80919826 nonsynonymous SNV 0.989 1 hm6A_associated_SNPs_11188 1 Uncertain significance Phosphoserine aminotransferase deficiency RCV000304704.1
1020 chr9 80944838 80944838 1 + A G rs41277905 80944843 + 80944823 80944863 41 TTTTTCAATTATGCCATTAAACTAAACATTTCTGTTAAATT TTTTTCAATTATGCCGTTAAACTAAACATTTCTGTTAAATT < 41bp 1 0.124161672026763 1 0.311218231916428 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 PSAT1 ENSG00000135069 UTR3 Human protein_coding chr9:80944843 chr9:80944838 . . 0 hm6A_associated_SNPs_11193 1 Uncertain significance Phosphoserine aminotransferase deficiency RCV000288589.1
1021 chr9 80944838 80944838 1 + A G rs41277905 80944848 + 80944828 80944868 41 CAATTATGCCATTAAACTAAACATTTCTGTTAAATTACCCT CAATTATGCCGTTAAACTAAACATTTCTGTTAAATTACCCT < 41bp 1 0.277943362781703 1 0.431917130947113 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 11 PSAT1 ENSG00000135069 UTR3 Human protein_coding chr9:80944848 chr9:80944838 . . 0 hm6A_associated_SNPs_11194 1 Uncertain significance Phosphoserine aminotransferase deficiency RCV000288589.1
1022 chr9 80944867 80944867 1 + C G rs529821810 80944848 + 80944828 80944868 41 CAATTATGCCATTAAACTAAACATTTCTGTTAAATTACCCT CAATTATGCCATTAAACTAAACATTTCTGTTAAATTACCGT < 41bp 1 0.274483553475161 1 0.462874412536621 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 40 PSAT1 ENSG00000135069 UTR3 Human protein_coding chr9:80944848 chr9:80944867 . . 0 hm6A_associated_SNPs_11195 1 Uncertain significance Phosphoserine aminotransferase deficiency RCV000343485.1
1023 chr9 100194406 100194406 1 + T C rs2045732 100194391 + 100194371 100194411 41 TAATCCAGCACCGTTAAGAGACAAAGGAAACTCTGTTGGAG TAATCCAGCACCGTTAAGAGACAAAGGAAACTCTGCTGGAG < 41bp 1 0.699181716899738 1 0.917884707450867 experiment 0.601636566200524 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 36 TDRD7 ENSG00000196116 CDS Human protein_coding chr9:100194391 chr9:100194406 nonsynonymous SNV 0.520 0 hm6A_associated_SNPs_11267 2 Benign not specified RCV000253314.1
1024 chr9 100194406 100194406 1 + T C rs2045732 100194391 + 100194371 100194411 41 TAATCCAGCACCGTTAAGAGACAAAGGAAACTCTGTTGGAG TAATCCAGCACCGTTAAGAGACAAAGGAAACTCTGCTGGAG < 41bp 1 0.699181716899738 1 0.917884707450867 experiment 0.601636566200524 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 36 TDRD7 ENSG00000196116 CDS Human protein_coding chr9:100194391 chr9:100194406 nonsynonymous SNV 0.520 0 hm6A_associated_SNPs_11267 2 Benign Congenital cataract RCV000402558.1
1025 chr9 101911947 101911947 1 + A G rs145692006 101911952 + 101911932 101911972 41 GATTGCTGAATTACAATGAAACATGTCTTATTACTAAAGAA GATTGCTGAATTACAGTGAAACATGTCTTATTACTAAAGAA < 41bp 1 0.427912833788454 1 0.863855123519897 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 16 TGFBR1 ENSG00000106799 UTR3 Human protein_coding chr9:101911952 chr9:101911947 . . 0 hm6A_associated_SNPs_11288 3 Likely benign Loeys-Dietz syndrome 1 RCV000284927.1
1026 chr9 101911947 101911947 1 + A G rs145692006 101911952 + 101911932 101911972 41 GATTGCTGAATTACAATGAAACATGTCTTATTACTAAAGAA GATTGCTGAATTACAGTGAAACATGTCTTATTACTAAAGAA < 41bp 1 0.427912833788454 1 0.863855123519897 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 16 TGFBR1 ENSG00000106799 UTR3 Human protein_coding chr9:101911952 chr9:101911947 . . 0 hm6A_associated_SNPs_11288 3 Likely benign Loeys-Dietz syndrome RCV000323275.1
1027 chr9 101911947 101911947 1 + A G rs145692006 101911952 + 101911932 101911972 41 GATTGCTGAATTACAATGAAACATGTCTTATTACTAAAGAA GATTGCTGAATTACAGTGAAACATGTCTTATTACTAAAGAA < 41bp 1 0.427912833788454 1 0.863855123519897 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 16 TGFBR1 ENSG00000106799 UTR3 Human protein_coding chr9:101911952 chr9:101911947 . . 0 hm6A_associated_SNPs_11288 3 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000377036.1
1028 chr9 108398678 108398678 1 + A G rs2768282 108398672 + 108398652 108398692 41 GAAGCTAAATGGTGGACTTGACAACTATTCACCCTACCTCA GAAGCTAAATGGTGGACTTGACAACTGTTCACCCTACCTCA < 41bp 1 0.0488100284570795 1 0.0304507315158844 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 27 FKTN ENSG00000106692 UTR3 Human protein_coding chr9:108398672 chr9:108398678 . . 0 hm6A_associated_SNPs_11308 2 Uncertain significance Fukuyama congenital muscular dystrophy RCV000293508.1
1029 chr9 108398678 108398678 1 + A G rs2768282 108398672 + 108398652 108398692 41 GAAGCTAAATGGTGGACTTGACAACTATTCACCCTACCTCA GAAGCTAAATGGTGGACTTGACAACTGTTCACCCTACCTCA < 41bp 1 0.0488100284570795 1 0.0304507315158844 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 27 FKTN ENSG00000106692 UTR3 Human protein_coding chr9:108398672 chr9:108398678 . . 0 hm6A_associated_SNPs_11308 2 Uncertain significance Dilated Cardiomyopathy, Recessive RCV000348334.1
1030 chr9 119462675 119462675 1 + C G rs116058338 119462668 + 119462648 119462688 41 CTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTT CTAGTTGGTTGGTATTGATGACTTCAGGCTGGAAATTGCTT < 41bp 1 0.645470745414912 1 0.533895969390869 experiment 0.709058509170177 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 28 TRIM32 ENSG00000119401 UTR3 Human protein_coding chr9:119462668 chr9:119462675 . . 0 hm6A_associated_SNPs_11390 2 Uncertain significance Limb-Girdle Muscular Dystrophy, Recessive RCV000266305.1
1031 chr9 119462675 119462675 1 + C G rs116058338 119462668 + 119462648 119462688 41 CTAGTTGGTTGGTATTGATGACTTCAGCCTGGAAATTGCTT CTAGTTGGTTGGTATTGATGACTTCAGGCTGGAAATTGCTT < 41bp 1 0.645470745414912 1 0.533895969390869 experiment 0.709058509170177 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 28 TRIM32 ENSG00000119401 UTR3 Human protein_coding chr9:119462668 chr9:119462675 . . 0 hm6A_associated_SNPs_11390 2 Uncertain significance Bardet-Biedl syndrome RCV000321454.1
1032 chr9 124064278 124064278 1 + A G rs115224458 124064261 + 124064241 124064281 41 CCCAACAGCATGGTGGTGGAACACCCCGAGTTCCTCAAGGC CCCAACAGCATGGTGGTGGAACACCCCGAGTTCCTCAGGGC < 41bp 1 0.354770055261633 1 0.202402234077454 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 38 GSN ENSG00000148180 CDS Human protein_coding chr9:124064261 chr9:124064278 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_11400 1 Benign Amyloidosis RCV000365448.1
1033 chr9 124083593 124083593 1 + A G rs149375418 124083599 + 124083579 124083619 41 GTGGACCCTGCCACATATGGACAGTTCTATGGAGGCGACAG GTGGACCCTGCCACGTATGGACAGTTCTATGGAGGCGACAG < 41bp 1 0.65253329245801 1 0.975949048995972 experiment 0.694933415083979 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 15 GSN ENSG00000148180 CDS Human protein_coding chr9:124083599 chr9:124083593 synonymous SNV . 0 hm6A_associated_SNPs_11401 1 Likely benign Amyloidosis RCV000308967.1
1034 chr9 124083614 124083614 1 + C T rs2304393 124083599 + 124083579 124083619 41 GTGGACCCTGCCACATATGGACAGTTCTATGGAGGCGACAG GTGGACCCTGCCACATATGGACAGTTCTATGGAGGTGACAG < 41bp 1 0.643112939689953 1 0.967260122299194 experiment 0.713774120620094 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 36 GSN ENSG00000148180 CDS Human protein_coding chr9:124083599 chr9:124083614 synonymous SNV . 0 hm6A_associated_SNPs_11402 1 Benign Amyloidosis RCV000349867.1
1035 chr9 124088908 124088908 1 + C G rs77681311 124088892 + 124088872 124088912 41 CCTCCCGCGAGGGCGGGCAGACAGCCCCTGCCAGCACCCGC CCTCCCGCGAGGGCGGGCAGACAGCCCCTGCCAGCAGCCGC < 41bp 1 0.513942486527876 1 0.547381520271301 experiment 0.972115026944249 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 37 GSN ENSG00000148180 CDS Human protein_coding chr9:124088892 chr9:124088908 nonsynonymous SNV 0.980 2 hm6A_associated_SNPs_11403 1 Likely benign Amyloidosis RCV000297409.1
1036 chr9 129458809 129458809 1 + G A rs10115393 129458827 + 129458807 129458847 41 CCGCCCTGCTCTCCGCACAGACTACAGACAGCCATACGGTG CCACCCTGCTCTCCGCACAGACTACAGACAGCCATACGGTG < 41bp 1 0.363907752565825 1 0.981062889099121 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 LMX1B ENSG00000136944 UTR3 Human protein_coding chr9:129458827 chr9:129458809 . . 0 hm6A_associated_SNPs_11462 1 Benign Nail-patella syndrome RCV000328107.1
1037 chr9 129459985 129459985 1 + A G rs16929236 129459989 + 129459969 129460009 41 CTGTTAATTTGGCCCAAAAGACAATGATTTGGCCACATGAC CTGTTAATTTGGCCCAGAAGACAATGATTTGGCCACATGAC < 41bp 1 0.0573165694095153 1 0.661580443382263 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 17 LMX1B ENSG00000136944 UTR3 Human protein_coding chr9:129459989 chr9:129459985 . . 0 hm6A_associated_SNPs_11463 1 Benign Nail-patella syndrome RCV000282993.1
1038 chr9 129462446 129462446 1 + C G rs147614955 129462464 + 129462444 129462484 41 CACAGGGAGGCCACACAGAGACACTGCTCACAAGAGTCAGA CAGAGGGAGGCCACACAGAGACACTGCTCACAAGAGTCAGA < 41bp 1 0.0512129494407662 1 0.0334229469299316 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 LMX1B ENSG00000136944 UTR3 Human protein_coding chr9:129462464 chr9:129462446 . . 0 hm6A_associated_SNPs_11464 1 Likely benign Nail-patella syndrome RCV000260157.1
1039 chr9 130454459 130454459 1 + G A rs536199056 130454441 + 130454421 130454461 41 CAGCCCCCTCGCCGCCCTTGACCTCCTGCAGGCCATGTGTG CAGCCCCCTCGCCGCCCTTGACCTCCTGCAGGCCATGTATG < 41bp 1 0.106170688162752 1 0.645813584327698 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 39 STXBP1 ENSG00000136854 UTR3 Human protein_coding chr9:130454441 chr9:130454459 . . 0 hm6A_associated_SNPs_11471 1 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000280229.1
1040 chr9 130454677 130454677 1 + C T rs553911559 130454675 + 130454655 130454695 41 CCTGATTTCCTTAGGACGGAACCGCAGGCACCTGCGCCGGG CCTGATTTCCTTAGGACGGAACTGCAGGCACCTGCGCCGGG < 41bp 1 0.308809385817765 1 0.875623762607574 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 STXBP1 ENSG00000136854 UTR3 Human protein_coding chr9:130454675 chr9:130454677 . . 0 hm6A_associated_SNPs_11472 1 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000343792.1
1041 chr9 130984809 130984809 1 + C T rs35048348 130984812 + 130984792 130984832 41 GATCAGATCGACACCTACGAACTGTCAGGGGGAGCCCGCAT GATCAGATCGACACCTATGAACTGTCAGGGGGAGCCCGCAT < 41bp 1 0.380204092740798 1 0.981183886528015 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 18 DNM1 ENSG00000106976 CDS Human protein_coding chr9:130984812 chr9:130984809 nonsynonymous SNV . 0 hm6A_associated_SNPs_11487 1 Benign not specified RCV000433577.1
1042 chr9 131008765 131008765 1 + C T rs111534551 131008770 + 131008750 131008790 41 GCATATCTTTGCCCTCTTTAACACGGAGCAGAGGTGCCTGC GCATATCTTTGCCCTTTTTAACACGGAGCAGAGGTGCCTGC < 41bp 1 0.575380933452266 1 0.114733934402466 experiment 0.849238133095468 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 16 DNM1 ENSG00000106976 CDS Human protein_coding chr9:131008770 chr9:131008765 synonymous SNV . 0 hm6A_associated_SNPs_11488 1 Benign not specified RCV000431975.1
1043 chr9 131287573 131287573 1 + G A rs138310419 131287577 + 131287557 131287597 41 GATCACCAGAGCCTGCGAAGACAAGAGGAGGCAGGATGAAG GATCACCAGAGCCTGCAAAGACAAGAGGAGGCAGGATGAAG < 41bp 1 0.73017813057449 1 0.969214081764221 experiment 0.53964373885102 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 17 GLE1 ENSG00000119392 CDS Human protein_coding chr9:131287577 chr9:131287573 nonsynonymous SNV 0.824 1 hm6A_associated_SNPs_11508 3 Benign not specified RCV000244686.1
1044 chr9 131287573 131287573 1 + G A rs138310419 131287577 + 131287557 131287597 41 GATCACCAGAGCCTGCGAAGACAAGAGGAGGCAGGATGAAG GATCACCAGAGCCTGCAAAGACAAGAGGAGGCAGGATGAAG < 41bp 1 0.73017813057449 1 0.969214081764221 experiment 0.53964373885102 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 17 GLE1 ENSG00000119392 CDS Human protein_coding chr9:131287577 chr9:131287573 nonsynonymous SNV 0.824 1 hm6A_associated_SNPs_11508 3 Likely benign Lethal Congenital Contracture Syndrome RCV000269348.1
1045 chr9 131287573 131287573 1 + G A rs138310419 131287577 + 131287557 131287597 41 GATCACCAGAGCCTGCGAAGACAAGAGGAGGCAGGATGAAG GATCACCAGAGCCTGCAAAGACAAGAGGAGGCAGGATGAAG < 41bp 1 0.73017813057449 1 0.969214081764221 experiment 0.53964373885102 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 17 GLE1 ENSG00000119392 CDS Human protein_coding chr9:131287577 chr9:131287573 nonsynonymous SNV 0.824 1 hm6A_associated_SNPs_11508 3 Likely benign Lethal arthrogryposis with anterior horn cell disease RCV000370927.1
1046 chr9 131303522 131303522 1 + G A rs10760563 131303503 + 131303483 131303523 41 AAAGAGGCAATAATAAAGGAACTGAAGACAGCTGTATTTGG AAAGAGGCAATAATAAAGGAACTGAAGACAGCTGTATTTAG < 41bp 1 0.723538524526689 1 0.915005207061768 experiment 0.552922950946621 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 40 MIR1268A ENSG00000228395 ncRNA_intronic Human antisense chr9:131303503 chr9:131303522 . . 0 hm6A_associated_SNPs_11509 2 Benign Lethal Congenital Contracture Syndrome RCV000324283.1
1047 chr9 131303522 131303522 1 + G A rs10760563 131303503 + 131303483 131303523 41 AAAGAGGCAATAATAAAGGAACTGAAGACAGCTGTATTTGG AAAGAGGCAATAATAAAGGAACTGAAGACAGCTGTATTTAG < 41bp 1 0.723538524526689 1 0.915005207061768 experiment 0.552922950946621 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 40 MIR1268A ENSG00000228395 ncRNA_intronic Human antisense chr9:131303503 chr9:131303522 . . 0 hm6A_associated_SNPs_11509 2 Benign Lethal arthrogryposis with anterior horn cell disease RCV000371900.1
1048 chr9 131346218 131346218 1 + A C rs10760566 131346212 + 131346192 131346232 41 GTGCAGAACCTCCAGAAGAAACATGCACTGCTAGAGGCAGA GTGCAGAACCTCCAGAAGAAACATGCCCTGCTAGAGGCAGA < 41bp 1 0.353200576541308 1 0.946277618408203 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 27 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131346212 chr9:131346218 synonymous SNV . 0 hm6A_associated_SNPs_11512 2 Benign not specified RCV000128236.2
1049 chr9 131346218 131346218 1 + A C rs10760566 131346212 + 131346192 131346232 41 GTGCAGAACCTCCAGAAGAAACATGCACTGCTAGAGGCAGA GTGCAGAACCTCCAGAAGAAACATGCCCTGCTAGAGGCAGA < 41bp 1 0.353200576541308 1 0.946277618408203 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 27 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131346212 chr9:131346218 synonymous SNV . 0 hm6A_associated_SNPs_11512 2 Likely benign Early infantile epileptic encephalopathy RCV000233124.2
1050 chr9 131367355 131367355 1 + A G rs533042543 131367363 + 131367343 131367383 41 AGAGAAGAATCAAGCTCTAAACACAGACAATTATGGACATG AGAGAAGAATCAGGCTCTAAACACAGACAATTATGGACATG < 41bp 1 0.388202205982282 1 0.873737096786499 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131367363 chr9:131367355 synonymous SNV . 0 hm6A_associated_SNPs_11513 1 Uncertain significance Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000365886.1
1051 chr9 131367442 131367442 1 + G A rs117614529 131367453 + 131367433 131367473 41 GGACCTTGCGGCTCTCGGTGACAAGGTGAGAGGACCCAAAG GGACCTTGCAGCTCTCGGTGACAAGGTGAGAGGACCCAAAG < 41bp 1 0.259373892825459 1 0.868347704410553 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 10 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131367453 chr9:131367442 synonymous SNV . 0 hm6A_associated_SNPs_11514 2 Benign not specified RCV000128247.2
1052 chr9 131367442 131367442 1 + G A rs117614529 131367453 + 131367433 131367473 41 GGACCTTGCGGCTCTCGGTGACAAGGTGAGAGGACCCAAAG GGACCTTGCAGCTCTCGGTGACAAGGTGAGAGGACCCAAAG < 41bp 1 0.259373892825459 1 0.868347704410553 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 10 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131367453 chr9:131367442 synonymous SNV . 0 hm6A_associated_SNPs_11514 2 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000379078.1
1053 chr9 131370474 131370474 1 + C T rs2228951 131370479 + 131370459 131370499 41 GGCCTTCTTGAATACCGAAGACAAAGGAGACTCACTGGACA GGCCTTCTTGAATACTGAAGACAAAGGAGACTCACTGGACA < 41bp 1 0.642691757107101 1 0.994392871856689 experiment 0.714616485785798 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control 16 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131370479 chr9:131370474 synonymous SNV . 0 hm6A_associated_SNPs_11515 4 Benign not specified RCV000128251.2
1054 chr9 131370474 131370474 1 + C T rs2228951 131370479 + 131370459 131370499 41 GGCCTTCTTGAATACCGAAGACAAAGGAGACTCACTGGACA GGCCTTCTTGAATACTGAAGACAAAGGAGACTCACTGGACA < 41bp 1 0.642691757107101 1 0.994392871856689 experiment 0.714616485785798 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control 16 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131370479 chr9:131370474 synonymous SNV . 0 hm6A_associated_SNPs_11515 4 Uncertain significance Early infantile epileptic encephalopathy 5 RCV000147631.1
1055 chr9 131370474 131370474 1 + C T rs2228951 131370479 + 131370459 131370499 41 GGCCTTCTTGAATACCGAAGACAAAGGAGACTCACTGGACA GGCCTTCTTGAATACTGAAGACAAAGGAGACTCACTGGACA < 41bp 1 0.642691757107101 1 0.994392871856689 experiment 0.714616485785798 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control 16 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131370479 chr9:131370474 synonymous SNV . 0 hm6A_associated_SNPs_11515 4 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000391109.1
1056 chr9 131370474 131370474 1 + C T rs2228951 131370479 + 131370459 131370499 41 GGCCTTCTTGAATACCGAAGACAAAGGAGACTCACTGGACA GGCCTTCTTGAATACTGAAGACAAAGGAGACTCACTGGACA < 41bp 1 0.642691757107101 1 0.994392871856689 experiment 0.714616485785798 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control 16 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131370479 chr9:131370474 synonymous SNV . 0 hm6A_associated_SNPs_11515 4 Benign Early infantile epileptic encephalopathy RCV000468170.1
1057 chr9 131374501 131374501 1 + G A rs114745823 131374482 + 131374462 131374502 41 AGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAGG AGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAAG < 41bp 1 0.149526168979796 1 0.974385142326355 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131374482 chr9:131374501 synonymous SNV . 0 hm6A_associated_SNPs_11516 2 Benign not specified RCV000128255.3
1058 chr9 131374501 131374501 1 + G A rs114745823 131374482 + 131374462 131374502 41 AGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAGG AGAAGCCAACAAGCAGCAGAACTTCAACACAGGGATCAAAG < 41bp 1 0.149526168979796 1 0.974385142326355 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131374482 chr9:131374501 synonymous SNV . 0 hm6A_associated_SNPs_11516 2 Benign Early infantile epileptic encephalopathy RCV000474276.1
1059 chr9 131374501 131374501 1 + G A rs114745823 131374503 + 131374483 131374523 41 CTTCAACACAGGGATCAAGGACTTTGACTTCTGGCTGTCTG CTTCAACACAGGGATCAAAGACTTTGACTTCTGGCTGTCTG < 41bp 1 0.317215596436292 1 0.981329560279846 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131374503 chr9:131374501 synonymous SNV . 0 hm6A_associated_SNPs_11517 2 Benign not specified RCV000128255.3
1060 chr9 131374501 131374501 1 + G A rs114745823 131374503 + 131374483 131374523 41 CTTCAACACAGGGATCAAGGACTTTGACTTCTGGCTGTCTG CTTCAACACAGGGATCAAAGACTTTGACTTCTGGCTGTCTG < 41bp 1 0.317215596436292 1 0.981329560279846 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131374503 chr9:131374501 synonymous SNV . 0 hm6A_associated_SNPs_11517 2 Benign Early infantile epileptic encephalopathy RCV000474276.1
1061 chr9 131375701 131375701 1 + A G rs1415568 131375712 + 131375692 131375732 41 CAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATC CAAAGACCTGGCTTCTGTGAACAACCTGCTGAAAAAGCATC < 41bp 1 0.435313174151036 1 0.77437299489975 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control 10 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131375712 chr9:131375701 synonymous SNV . 0 hm6A_associated_SNPs_11518 2 Benign not specified RCV000128256.2
1062 chr9 131375701 131375701 1 + A G rs1415568 131375712 + 131375692 131375732 41 CAAAGACCTAGCTTCTGTGAACAACCTGCTGAAAAAGCATC CAAAGACCTGGCTTCTGTGAACAACCTGCTGAAAAAGCATC < 41bp 1 0.435313174151036 1 0.77437299489975 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control 10 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131375712 chr9:131375701 synonymous SNV . 0 hm6A_associated_SNPs_11518 2 Benign Early infantile epileptic encephalopathy RCV000471996.1
1063 chr9 131394983 131394983 1 + G A rs75028792 131394979 + 131394959 131394999 41 TGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGT TGAGTTCGAGGCAATCCTGGACACAGTGGATCCGAACAGGT < 41bp 1 0.261625714158507 1 0.979854464530945 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131394979 chr9:131394983 synonymous SNV . 0 hm6A_associated_SNPs_11519 1 Benign not specified RCV000128275.2
1064 chr9 131395724 131395724 1 + G T rs74995813 131395732 + 131395712 131395752 41 CCTGCTTAGCTTGGAATAAGACTTAGGAGAAAATGGTGCTT CCTGCTTAGCTTTGAATAAGACTTAGGAGAAAATGGTGCTT < 41bp 1 0.356297104569107 1 0.959693908691406 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 13 MIR1268A ENSG00000197694 UTR3 Human protein_coding chr9:131395732 chr9:131395724 . . 0 hm6A_associated_SNPs_11520 1 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000326127.1
1065 chr9 131395762 131395762 1 + G A rs188688870 131395758 + 131395738 131395778 41 GAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCAC GAGAAAATGGTGCTTCACTAACCCACTTCCGGTCCAGTCAC < 41bp 1 0.0754514799993313 1 0.947946488857269 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 MIR1268A ENSG00000197694 UTR3 Human protein_coding chr9:131395758 chr9:131395762 . . 0 hm6A_associated_SNPs_11522 1 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000277326.1
1066 chr9 131395768 131395768 1 + G A rs11543348 131395758 + 131395738 131395778 41 GAGAAAATGGTGCTTCACTAACCCGCTTCCGGTCCAGTCAC GAGAAAATGGTGCTTCACTAACCCGCTTCCAGTCCAGTCAC < 41bp 1 0.0827359332194843 1 0.940651595592499 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 MIR1268A ENSG00000197694 UTR3 Human protein_coding chr9:131395758 chr9:131395768 . . 0 hm6A_associated_SNPs_11523 1 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000332316.1
1067 chr9 133325707 133325707 1 + G A rs184403245 133325701 + 133325681 133325721 41 ACAGATTCCAGACGCCGGGAACTCACGCCTCCAATCCCAGG ACAGATTCCAGACGCCGGGAACTCACACCTCCAATCCCAGG < 41bp 1 0.182790779776955 1 0.0128376185894012 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 27 ASS1 ENSG00000130707 UTR5 Human protein_coding chr9:133325701 chr9:133325707 . . 0 hm6A_associated_SNPs_11601 1 Likely benign not specified RCV000417960.1
1068 chr9 133352335 133352335 1 + C T rs58233547 133352322 + 133352302 133352342 41 CAAAGCCCCCAACACCCCTGACATTCTCGAGATCGAGTTCA CAAAGCCCCCAACACCCCTGACATTCTCGAGATTGAGTTCA < 41bp 1 0.516794546894981 1 0.379373490810394 experiment 0.966410906210037 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133352322 chr9:133352335 synonymous SNV . 0 hm6A_associated_SNPs_11607 1 Benign not specified RCV000185781.2
1069 chr9 133364757 133364757 1 + T C rs1057484 133364768 + 133364748 133364788 41 CCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGG CCTTTACCACGCTCATTTAGACATCGAGGCCTTCACCATGG < 41bp 1 0.739981594715085 1 0.910245656967163 experiment 0.520036810569831 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 10 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133364768 chr9:133364757 synonymous SNV . 0 hm6A_associated_SNPs_11608 2 Benign not specified RCV000078028.6
1070 chr9 133364757 133364757 1 + T C rs1057484 133364768 + 133364748 133364788 41 CCTTTACCATGCTCATTTAGACATCGAGGCCTTCACCATGG CCTTTACCACGCTCATTTAGACATCGAGGCCTTCACCATGG < 41bp 1 0.739981594715085 1 0.910245656967163 experiment 0.520036810569831 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 10 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133364768 chr9:133364757 synonymous SNV . 0 hm6A_associated_SNPs_11608 2 Likely benign Citrullinemia type I RCV000378731.1
1071 chr9 133884600 133884600 1 + C T rs137883250 133884599 + 133884579 133884619 41 GCGCGGCGTCGGTGCCCTTGACCATGGCGGCGGCTGCGCTT GCGCGGCGTCGGTGCCCTTGATCATGGCGGCGGCTGCGCTT Direct Loss 1 0.309758533894673 1 0.815421402454376 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 22 LAMC3 ENSG00000050555 UTR5 Human protein_coding chr9:133884599 chr9:133884600 . . 0 hm6A_associated_SNPs_11629 2 other not specified RCV000388002.2
1072 chr9 133884600 133884600 1 + C T rs137883250 133884599 + 133884579 133884619 41 GCGCGGCGTCGGTGCCCTTGACCATGGCGGCGGCTGCGCTT GCGCGGCGTCGGTGCCCTTGATCATGGCGGCGGCTGCGCTT Direct Loss 1 0.309758533894673 1 0.815421402454376 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 22 LAMC3 ENSG00000050555 UTR5 Human protein_coding chr9:133884599 chr9:133884600 . . 0 hm6A_associated_SNPs_11629 2 Uncertain significance not provided RCV000415912.2
1073 chr9 134390870 134390870 1 + C A rs11243406 134390875 + 134390855 134390895 41 CTCCTGCTACATTGACTATAACATCTCCATGCCCGCCCAGA CTCCTGCTACATTGAATATAACATCTCCATGCCCGCCCAGA < 41bp 1 0.616917917770339 1 0.952258348464966 experiment 0.766164164459321 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 16 POMT1 ENSG00000130714 CDS Human protein_coding chr9:134390875 chr9:134390870 nonsynonymous SNV 0.978 5 hm6A_associated_SNPs_11663 2 Benign not specified RCV000081480.7
1074 chr9 134390870 134390870 1 + C A rs11243406 134390875 + 134390855 134390895 41 CTCCTGCTACATTGACTATAACATCTCCATGCCCGCCCAGA CTCCTGCTACATTGAATATAACATCTCCATGCCCGCCCAGA < 41bp 1 0.616917917770339 1 0.952258348464966 experiment 0.766164164459321 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 16 POMT1 ENSG00000130714 CDS Human protein_coding chr9:134390875 chr9:134390870 nonsynonymous SNV 0.978 5 hm6A_associated_SNPs_11663 2 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000391550.1
1075 chr9 134398518 134398518 1 + C T rs115818625 134398513 + 134398493 134398533 41 GAACAAGAGTGTGGCAAAGAACACCCGTGCTGGGGTCGGGA GAACAAGAGTGTGGCAAAGAACACCTGTGCTGGGGTCGGGA < 41bp 1 0.75122641618626 1 0.967732489109039 experiment 0.497547167627481 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 26 POMT1 ENSG00000130714 UTR3 Human protein_coding chr9:134398513 chr9:134398518 . . 0 hm6A_associated_SNPs_11664 1 Uncertain significance Limb-Girdle Muscular Dystrophy, Recessive RCV000339282.1
1076 chr9 134399022 134399022 1 + G A rs116005066 134399017 + 134398997 134399037 41 CTTGCATGTCATTGTCTATGACAGCGTCAAGACTGGCCCTT CTTGCATGTCATTGTCTATGACAGCATCAAGACTGGCCCTT < 41bp 1 0.195134274931968 1 0.784207463264465 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 26 POMT1 ENSG00000130714 UTR3 Human protein_coding chr9:134399017 chr9:134399022 . . 0 hm6A_associated_SNPs_11666 1 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000260694.1
1077 chr9 134399022 134399022 1 + G A rs116005066 134399028 + 134399008 134399048 41 TTGTCTATGACAGCGTCAAGACTGGCCCTTGGCACCGTGCT TTGTCTATGACAGCATCAAGACTGGCCCTTGGCACCGTGCT < 41bp 1 0.222630200995402 1 0.859111547470093 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 POMT1 ENSG00000130714 UTR3 Human protein_coding chr9:134399028 chr9:134399022 . . 0 hm6A_associated_SNPs_11667 1 Likely benign Limb-Girdle Muscular Dystrophy, Recessive RCV000260694.1
1078 chr9 137734294 137734294 1 + G A rs181323324 137734304 + 137734284 137734324 41 TCGGCACCACGGGGTGTGGGACCCCAGCCCGGAGAGAACAG TCGGCACCACAGGGTGTGGGACCCCAGCCCGGAGAGAACAG < 41bp 1 0.776467350598306 1 0.947517037391663 experiment 0.447065298803388 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 11 LOC101448202 ENSG00000130635 UTR3 Human protein_coding chr9:137734304 chr9:137734294 . . 0 hm6A_associated_SNPs_11717 1 Likely benign Ehlers-Danlos syndrome, type 7A RCV000361921.1
1079 chr9 139982611 139982611 1 + A C rs149322865 139982598 + 139982578 139982618 41 GCCTTTCTGCTTTTCTGTGGACTCCTCTTCTACATCAACTT GCCTTTCTGCTTTTCTGTGGACTCCTCTTCTACCTCAACTT < 41bp 1 0.76307064546882 1 0.938145637512207 experiment 0.473858709062359 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139982598 chr9:139982611 nonsynonymous SNV 0.019 0 hm6A_associated_SNPs_11801 1 Uncertain significance not specified RCV000499571.1
1080 chr9 139983451 139983451 1 + G A rs140105878 139983435 + 139983415 139983455 41 GGCGGACACCGACCCTGAGAACTTACCTGAGATTTCGTCAC GGCGGACACCGACCCTGAGAACTTACCTGAGATTTCATCAC < 41bp 1 0.78172846220695 1 0.835105836391449 experiment 0.436543075586099 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139983435 chr9:139983451 synonymous SNV . 0 hm6A_associated_SNPs_11803 1 Uncertain significance Intellectual Disability, Recessive RCV000383588.1
1081 chr9 140003532 140003532 1 + G A rs572418621 140003512 + 140003492 140003532 41 CTCTGGTGTTTACAAGCTGGACTCAGGGATCCTCCTGGCCG CTCTGGTGTTTACAAGCTGGACTCAGGGATCCTCCTGGCCA < 41bp 1 0.640514018680657 1 0.930603384971619 experiment 0.718971962638685 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 41 MAN1B1 ENSG00000177239 UTR3 Human protein_coding chr9:140003512 chr9:140003532 . . 0 hm6A_associated_SNPs_11806 1 Uncertain significance Intellectual Disability, Recessive RCV000396736.1
1082 chr9 140611308 140611308 1 + C G rs144603232 140611291 + 140611271 140611311 41 AAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGCAAA AAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGGAAA < 41bp 1 0.779518474350104 1 0.999591410160065 experiment 0.440963051299792 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 38 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140611291 chr9:140611308 nonsynonymous SNV 0.959 0 hm6A_associated_SNPs_11840 3 Likely benign not specified RCV000116963.2
1083 chr9 140611308 140611308 1 + C G rs144603232 140611291 + 140611271 140611311 41 AAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGCAAA AAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGGAAA < 41bp 1 0.779518474350104 1 0.999591410160065 experiment 0.440963051299792 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 38 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140611291 chr9:140611308 nonsynonymous SNV 0.959 0 hm6A_associated_SNPs_11840 3 Likely benign Chromosome 9q deletion syndrome RCV000362161.1
1084 chr9 140611308 140611308 1 + C G rs144603232 140611291 + 140611271 140611311 41 AAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGCAAA AAATGGGGTTTCAGAAAGAGACTCAGAAGCGGCGAAGGAAA < 41bp 1 0.779518474350104 1 0.999591410160065 experiment 0.440963051299792 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 38 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140611291 chr9:140611308 nonsynonymous SNV 0.959 0 hm6A_associated_SNPs_11840 3 Likely benign not provided RCV000429185.1
1085 chr9 140671143 140671143 1 + A G rs184814386 140671125 + 140671105 140671145 41 CTCTCACCGTTTCCACAAAGACTGTGCCTCTCGAGTCAATA CTCTCACCGTTTCCACAAAGACTGTGCCTCTCGAGTCAGTA < 41bp 1 0.32222364010645 1 0.983556747436523 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 39 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140671125 chr9:140671143 nonsynonymous SNV 0.731 1 hm6A_associated_SNPs_11842 2 Uncertain significance not provided RCV000116959.3
1086 chr9 140671143 140671143 1 + A G rs184814386 140671125 + 140671105 140671145 41 CTCTCACCGTTTCCACAAAGACTGTGCCTCTCGAGTCAATA CTCTCACCGTTTCCACAAAGACTGTGCCTCTCGAGTCAGTA < 41bp 1 0.32222364010645 1 0.983556747436523 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 39 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140671125 chr9:140671143 nonsynonymous SNV 0.731 1 hm6A_associated_SNPs_11842 2 Uncertain significance not specified RCV000259155.1
1087 chr9 140671228 140671228 1 + C T rs199839806 140671215 + 140671195 140671235 41 GGTGACGATAGCTAAAGCAGACACCACCTCGACCGTGACAC GGTGACGATAGCTAAAGCAGACACCACCTCGACTGTGACAC < 41bp 1 0.418102210563162 1 0.957141160964966 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 34 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140671215 chr9:140671228 synonymous SNV . 0 hm6A_associated_SNPs_11843 2 Uncertain significance not specified RCV000194680.1
1088 chr9 140671228 140671228 1 + C T rs199839806 140671215 + 140671195 140671235 41 GGTGACGATAGCTAAAGCAGACACCACCTCGACCGTGACAC GGTGACGATAGCTAAAGCAGACACCACCTCGACTGTGACAC < 41bp 1 0.418102210563162 1 0.957141160964966 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 34 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140671215 chr9:140671228 synonymous SNV . 0 hm6A_associated_SNPs_11843 2 Likely benign Chromosome 9q deletion syndrome RCV000304741.1
1089 chr9 140671229 140671229 1 + G A rs188452845 140671215 + 140671195 140671235 41 GGTGACGATAGCTAAAGCAGACACCACCTCGACCGTGACAC GGTGACGATAGCTAAAGCAGACACCACCTCGACCATGACAC < 41bp 1 0.446686584743503 1 0.951387405395508 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 35 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140671215 chr9:140671229 nonsynonymous SNV 0.417 3 hm6A_associated_SNPs_11844 1 Uncertain significance not provided RCV000487651.1
1090 chr9 140707560 140707560 1 + G T rs143669310 140707580 + 140707560 140707600 41 GATGAGCAAGGCTCTGCAGGACTCGGCCCCCGACAGGCCCA TATGAGCAAGGCTCTGCAGGACTCGGCCCCCGACAGGCCCA < 41bp 1 0.356238899632891 1 0.905771732330322 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140707580 chr9:140707560 nonsynonymous SNV 0.944 3 hm6A_associated_SNPs_11845 1 Benign not specified RCV000369488.1
1091 chr9 140707590 140707590 1 + C T rs35943616 140707580 + 140707560 140707600 41 GATGAGCAAGGCTCTGCAGGACTCGGCCCCCGACAGGCCCA GATGAGCAAGGCTCTGCAGGACTCGGCCCCTGACAGGCCCA < 41bp 1 0.355975239368595 1 0.91700690984726 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140707580 chr9:140707590 synonymous SNV . 0 hm6A_associated_SNPs_11846 2 other not specified RCV000082227.7
1092 chr9 140707590 140707590 1 + C T rs35943616 140707580 + 140707560 140707600 41 GATGAGCAAGGCTCTGCAGGACTCGGCCCCCGACAGGCCCA GATGAGCAAGGCTCTGCAGGACTCGGCCCCTGACAGGCCCA < 41bp 1 0.355975239368595 1 0.91700690984726 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140707580 chr9:140707590 synonymous SNV . 0 hm6A_associated_SNPs_11846 2 Benign Chromosome 9q deletion syndrome RCV000283812.1
1093 chr10 27450035 27450035 1 + G A rs56204835 27450037 + 27450017 27450057 41 GTGCAGGGACTTGAAACCGGACAATATGCTTATTTCTAATG GTGCAGGGACTTGAAACCAGACAATATGCTTATTTCTAATG < 41bp 1 0.68022984504599 1 0.214532285928726 experiment 0.63954030990802 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 19 MASTL ENSG00000120539 CDS Human protein_coding chr10:27450037 chr10:27450035 synonymous SNV . 0 hm6A_associated_SNPs_12001 2 Benign not specified RCV000247093.1
1094 chr10 27450035 27450035 1 + G A rs56204835 27450037 + 27450017 27450057 41 GTGCAGGGACTTGAAACCGGACAATATGCTTATTTCTAATG GTGCAGGGACTTGAAACCAGACAATATGCTTATTTCTAATG < 41bp 1 0.68022984504599 1 0.214532285928726 experiment 0.63954030990802 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 19 MASTL ENSG00000120539 CDS Human protein_coding chr10:27450037 chr10:27450035 synonymous SNV . 0 hm6A_associated_SNPs_12001 2 Likely benign Thrombocytopenia RCV000323174.1
1095 chr10 27475494 27475494 1 + T C rs10764686 27475509 + 27475489 27475529 41 AGCCTTGTGTTATAGAATGAACTTGCATAATTATATACTCC AGCCTCGTGTTATAGAATGAACTTGCATAATTATATACTCC < 41bp 1 0.565114088372457 1 0.87566602230072 experiment 0.869771823255086 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 6 MASTL ENSG00000120539 UTR3 Human protein_coding chr10:27475509 chr10:27475494 . . 0 hm6A_associated_SNPs_12002 2 Benign not specified RCV000243839.1
1096 chr10 27475494 27475494 1 + T C rs10764686 27475509 + 27475489 27475529 41 AGCCTTGTGTTATAGAATGAACTTGCATAATTATATACTCC AGCCTCGTGTTATAGAATGAACTTGCATAATTATATACTCC < 41bp 1 0.565114088372457 1 0.87566602230072 experiment 0.869771823255086 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 6 MASTL ENSG00000120539 UTR3 Human protein_coding chr10:27475509 chr10:27475494 . . 0 hm6A_associated_SNPs_12002 2 Likely benign Thrombocytopenia RCV000296331.1
1097 chr10 27475579 27475579 1 + A G rs10764687 27475570 + 27475550 27475590 41 GGGGGAAAGATCATTATTTAACCTAGTTCAATGTGCTTTTA GGGGGAAAGATCATTATTTAACCTAGTTCGATGTGCTTTTA < 41bp 1 0.124232858543145 1 0.0228099822998047 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 30 MASTL ENSG00000120539 UTR3 Human protein_coding chr10:27475570 chr10:27475579 . . 0 hm6A_associated_SNPs_12004 1 Likely benign Thrombocytopenia RCV000332560.1
1098 chr10 27827367 27827367 1 + C A rs12248740 27827359 + 27827339 27827379 41 TGAATTACTTGGTATTTAGAACTCCTAGCACCACGGGGAAG TGAATTACTTGGTATTTAGAACTCCTAGAACCACGGGGAAG < 41bp 1 0.365482097349215 1 0.308605015277863 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 RAB18 ENSG00000099246 UTR3 Human protein_coding chr10:27827359 chr10:27827367 . . 0 hm6A_associated_SNPs_12005 1 Likely benign Warburg micro syndrome RCV000391701.1
1099 chr10 43625065 43625065 1 + G A rs149252070 43625076 + 43625056 43625096 41 AAAAGAGTCGGATTACCAAAACACTGCCTGCTCTTCAGACT AAAAGAGTCAGATTACCAAAACACTGCCTGCTCTTCAGACT < 41bp 1 0.745429602918421 1 0.839420974254608 experiment 0.509140794163159 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 RET ENSG00000165731 UTR3 Human protein_coding chr10:43625076 chr10:43625065 . . 0 hm6A_associated_SNPs_12035 4 Uncertain significance Pheochromocytoma RCV000280995.1
1100 chr10 43625065 43625065 1 + G A rs149252070 43625076 + 43625056 43625096 41 AAAAGAGTCGGATTACCAAAACACTGCCTGCTCTTCAGACT AAAAGAGTCAGATTACCAAAACACTGCCTGCTCTTCAGACT < 41bp 1 0.745429602918421 1 0.839420974254608 experiment 0.509140794163159 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 RET ENSG00000165731 UTR3 Human protein_coding chr10:43625076 chr10:43625065 . . 0 hm6A_associated_SNPs_12035 4 Uncertain significance Hirschsprung Disease, Dominant RCV000336056.1
1101 chr10 43625065 43625065 1 + G A rs149252070 43625076 + 43625056 43625096 41 AAAAGAGTCGGATTACCAAAACACTGCCTGCTCTTCAGACT AAAAGAGTCAGATTACCAAAACACTGCCTGCTCTTCAGACT < 41bp 1 0.745429602918421 1 0.839420974254608 experiment 0.509140794163159 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 RET ENSG00000165731 UTR3 Human protein_coding chr10:43625076 chr10:43625065 . . 0 hm6A_associated_SNPs_12035 4 Uncertain significance Multiple endocrine neoplasia RCV000395362.1
1102 chr10 43625065 43625065 1 + G A rs149252070 43625076 + 43625056 43625096 41 AAAAGAGTCGGATTACCAAAACACTGCCTGCTCTTCAGACT AAAAGAGTCAGATTACCAAAACACTGCCTGCTCTTCAGACT < 41bp 1 0.745429602918421 1 0.839420974254608 experiment 0.509140794163159 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 RET ENSG00000165731 UTR3 Human protein_coding chr10:43625076 chr10:43625065 . . 0 hm6A_associated_SNPs_12035 4 Uncertain significance Renal adysplasia RCV000399812.1
1103 chr10 70748569 70748569 1 + G A rs199849981 70748557 + 70748537 70748577 41 GGCGGGAGTCCCGACTGCAAACATTGAGGAAAGCCAGGCAG GGCGGGAGTCCCGACTGCAAACATTGAGGAAAACCAGGCAG < 41bp 1 0.611978491516634 1 0.8890380859375 experiment 0.776043016966732 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 33 KIF1BP ENSG00000198954 UTR5 Human protein_coding chr10:70748557 chr10:70748569 . . 0 hm6A_associated_SNPs_12127 1 Likely benign not specified RCV000442692.1
1104 chr10 70748656 70748656 1 + A G rs148768851 70748657 + 70748637 70748677 41 CTCGCTCTGTCGCGGGTGGAACTGCATAAAAATCCGGAGAA CTCGCTCTGTCGCGGGTGGGACTGCATAAAAATCCGGAGAA < 41bp 1 0.502677684525921 1 0.971190810203552 experiment 0.994644630948157 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 20 KIF1BP ENSG00000198954 CDS Human protein_coding chr10:70748657 chr10:70748656 nonsynonymous SNV 0.966 3 hm6A_associated_SNPs_12128 1 Likely benign not specified RCV000146134.2
1105 chr10 70748666 70748666 1 + A G rs144067344 70748657 + 70748637 70748677 41 CTCGCTCTGTCGCGGGTGGAACTGCATAAAAATCCGGAGAA CTCGCTCTGTCGCGGGTGGAACTGCATAAGAATCCGGAGAA < 41bp 1 0.407423623336214 1 0.964424729347229 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 30 KIF1BP ENSG00000198954 CDS Human protein_coding chr10:70748657 chr10:70748666 synonymous SNV . 0 hm6A_associated_SNPs_12129 1 Uncertain significance Goldberg-Shprintzen megacolon syndrome RCV000146135.1
1106 chr10 70748666 70748666 1 + A G rs144067344 70748681 + 70748661 70748701 41 CATAAAAATCCGGAGAAGGAACCATACAAGTCCAAATACAG CATAAGAATCCGGAGAAGGAACCATACAAGTCCAAATACAG < 41bp 1 0.318195114167704 1 0.978537678718567 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 6 KIF1BP ENSG00000198954 CDS Human protein_coding chr10:70748681 chr10:70748666 synonymous SNV . 0 hm6A_associated_SNPs_12130 1 Uncertain significance Goldberg-Shprintzen megacolon syndrome RCV000146135.1
1107 chr10 71142420 71142420 1 + G A rs748235 71142422 + 71142402 71142442 41 TCATTTCCACCTCACCAAGGACATGCTGCTGGAGGTGAAGA TCATTTCCACCTCACCAAAGACATGCTGCTGGAGGTGAAGA < 41bp 1 0.509124498525931 1 0.961650490760803 experiment 0.981751002948138 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 19 HK1 ENSG00000156515 CDS Human protein_coding chr10:71142422 chr10:71142420 synonymous SNV . 0 hm6A_associated_SNPs_12144 1 Benign not specified RCV000246647.1
1108 chr10 73768698 73768698 1 + C A rs539699501 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGACGTGGGTGTCAAAGGT < 41bp 1 0.726747541988876 1 0.646852970123291 experiment 0.546504916022247 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 25 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768698 . . 0 hm6A_associated_SNPs_12178 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000275034.1
1109 chr10 73768698 73768698 1 + C A rs539699501 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGACGTGGGTGTCAAAGGT < 41bp 1 0.726747541988876 1 0.646852970123291 experiment 0.546504916022247 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 25 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768698 . . 0 hm6A_associated_SNPs_12178 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000330074.1
1110 chr10 73768698 73768698 1 + C A rs539699501 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGACGTGGGTGTCAAAGGT < 41bp 1 0.726747541988876 1 0.646852970123291 experiment 0.546504916022247 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 25 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768698 . . 0 hm6A_associated_SNPs_12178 4 Uncertain significance Larsen syndrome RCV000369101.1
1111 chr10 73768698 73768698 1 + C A rs539699501 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGACGTGGGTGTCAAAGGT < 41bp 1 0.726747541988876 1 0.646852970123291 experiment 0.546504916022247 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 25 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768698 . . 0 hm6A_associated_SNPs_12178 4 Uncertain significance Skeletal dysplasia RCV000384562.1
1112 chr10 73768712 73768712 1 + G A rs113283291 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAAGT < 41bp 1 0.70464047618443 1 0.564986109733582 experiment 0.590719047631139 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 39 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768712 . . 0 hm6A_associated_SNPs_12179 4 Likely benign Skeletal dysplasia RCV000286651.1
1113 chr10 73768712 73768712 1 + G A rs113283291 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAAGT < 41bp 1 0.70464047618443 1 0.564986109733582 experiment 0.590719047631139 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 39 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768712 . . 0 hm6A_associated_SNPs_12179 4 Likely benign Spondyloepiphyseal dysplasia RCV000290149.1
1114 chr10 73768712 73768712 1 + G A rs113283291 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAAGT < 41bp 1 0.70464047618443 1 0.564986109733582 experiment 0.590719047631139 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 39 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768712 . . 0 hm6A_associated_SNPs_12179 4 Likely benign Larsen syndrome RCV000326461.1
1115 chr10 73768712 73768712 1 + G A rs113283291 73768694 + 73768674 73768714 41 TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAGGT TCCTTGGAGGAGGGGCTAGGACAGCCGTGGGTGTCAAAAGT < 41bp 1 0.70464047618443 1 0.564986109733582 experiment 0.590719047631139 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 39 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73768694 chr10:73768712 . . 0 hm6A_associated_SNPs_12179 4 Likely benign Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000380972.1
1116 chr10 73769038 73769038 1 + C T rs145689465 73769055 + 73769035 73769075 41 AAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC AAATGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC < 41bp 1 0.282680431068385 1 0.334663987159729 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769055 chr10:73769038 . . 0 hm6A_associated_SNPs_12180 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000270927.1
1117 chr10 73769038 73769038 1 + C T rs145689465 73769055 + 73769035 73769075 41 AAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC AAATGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC < 41bp 1 0.282680431068385 1 0.334663987159729 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769055 chr10:73769038 . . 0 hm6A_associated_SNPs_12180 4 Uncertain significance Larsen syndrome RCV000326007.1
1118 chr10 73769038 73769038 1 + C T rs145689465 73769055 + 73769035 73769075 41 AAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC AAATGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC < 41bp 1 0.282680431068385 1 0.334663987159729 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769055 chr10:73769038 . . 0 hm6A_associated_SNPs_12180 4 Uncertain significance Skeletal dysplasia RCV000365445.1
1119 chr10 73769038 73769038 1 + C T rs145689465 73769055 + 73769035 73769075 41 AAACGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC AAATGCGTTAAAGGGCCATGACATGACACAGTTCCCTGGCC < 41bp 1 0.282680431068385 1 0.334663987159729 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769055 chr10:73769038 . . 0 hm6A_associated_SNPs_12180 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000380640.1
1120 chr10 73769084 73769084 1 + A C rs181471425 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GCCTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.524744203473882 1 0.733630299568176 experiment 0.950511593052237 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769084 . . 0 hm6A_associated_SNPs_12181 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000312843.1
1121 chr10 73769084 73769084 1 + A C rs181471425 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GCCTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.524744203473882 1 0.733630299568176 experiment 0.950511593052237 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769084 . . 0 hm6A_associated_SNPs_12181 4 Uncertain significance Skeletal dysplasia RCV000346707.1
1122 chr10 73769084 73769084 1 + A C rs181471425 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GCCTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.524744203473882 1 0.733630299568176 experiment 0.950511593052237 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769084 . . 0 hm6A_associated_SNPs_12181 4 Uncertain significance Larsen syndrome RCV000390324.1
1123 chr10 73769084 73769084 1 + A C rs181471425 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GCCTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.524744203473882 1 0.733630299568176 experiment 0.950511593052237 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 2 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769084 . . 0 hm6A_associated_SNPs_12181 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000395294.1
1124 chr10 73769085 73769085 1 + C G rs186004202 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGAGTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.586440563201904 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 22 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769085 . . 0 hm6A_associated_SNPs_12182 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000267046.1
1125 chr10 73769085 73769085 1 + C G rs186004202 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGAGTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.586440563201904 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 22 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769085 . . 0 hm6A_associated_SNPs_12182 4 Uncertain significance Larsen syndrome RCV000305844.1
1126 chr10 73769085 73769085 1 + C G rs186004202 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGAGTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.586440563201904 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 22 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769085 . . 0 hm6A_associated_SNPs_12182 4 Uncertain significance Skeletal dysplasia RCV000307071.1
1127 chr10 73769085 73769085 1 + C G rs186004202 73769084 + 73769064 73769104 41 AGTTCCCTGGCCGGGTTTGGACTGAACAGTGGATTCAGAAC AGTTCCCTGGCCGGGTTTGGAGTGAACAGTGGATTCAGAAC Direct Loss 1 0.725659514960831 1 0.586440563201904 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 22 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769084 chr10:73769085 . . 0 hm6A_associated_SNPs_12182 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000364038.1
1128 chr10 73769085 73769085 1 + C G rs186004202 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GAGTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.494316052287591 1 0.714792490005493 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 3 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769085 . . 0 hm6A_associated_SNPs_12183 4 Uncertain significance Spondyloepiphyseal dysplasia RCV000267046.1
1129 chr10 73769085 73769085 1 + C G rs186004202 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GAGTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.494316052287591 1 0.714792490005493 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 3 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769085 . . 0 hm6A_associated_SNPs_12183 4 Uncertain significance Larsen syndrome RCV000305844.1
1130 chr10 73769085 73769085 1 + C G rs186004202 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GAGTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.494316052287591 1 0.714792490005493 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 3 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769085 . . 0 hm6A_associated_SNPs_12183 4 Uncertain significance Skeletal dysplasia RCV000307071.1
1131 chr10 73769085 73769085 1 + C G rs186004202 73769103 + 73769083 73769123 41 GACTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT GAGTGAACAGTGGATTCAGAACTGCAGCGTTCAAAGCCCCT < 41bp 1 0.494316052287591 1 0.714792490005493 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 3 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73769103 chr10:73769085 . . 0 hm6A_associated_SNPs_12183 4 Uncertain significance Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000364038.1
1132 chr10 73770073 73770073 1 + C T rs4148946 73770088 + 73770068 73770108 41 CTCTGCTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG CTCTGTTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG < 41bp 1 0.566143925192651 1 0.917782127857208 experiment 0.867712149614698 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 6 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770088 chr10:73770073 . . 0 hm6A_associated_SNPs_12184 4 Benign Skeletal dysplasia RCV000295614.1
1133 chr10 73770073 73770073 1 + C T rs4148946 73770088 + 73770068 73770108 41 CTCTGCTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG CTCTGTTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG < 41bp 1 0.566143925192651 1 0.917782127857208 experiment 0.867712149614698 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 6 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770088 chr10:73770073 . . 0 hm6A_associated_SNPs_12184 4 Benign Larsen syndrome RCV000345796.1
1134 chr10 73770073 73770073 1 + C T rs4148946 73770088 + 73770068 73770108 41 CTCTGCTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG CTCTGTTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG < 41bp 1 0.566143925192651 1 0.917782127857208 experiment 0.867712149614698 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 6 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770088 chr10:73770073 . . 0 hm6A_associated_SNPs_12184 4 Benign Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000381696.1
1135 chr10 73770073 73770073 1 + C T rs4148946 73770088 + 73770068 73770108 41 CTCTGCTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG CTCTGTTTCTGGTTTCCTGGACAATTTCTCTGTCAGATACG < 41bp 1 0.566143925192651 1 0.917782127857208 experiment 0.867712149614698 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 6 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770088 chr10:73770073 . . 0 hm6A_associated_SNPs_12184 4 Benign Spondyloepiphyseal dysplasia RCV000389670.1
1136 chr10 73770651 73770651 1 + T C rs4148949 73770654 + 73770634 73770674 41 CCTGCTAATGTGGACAGTAGACTTTATCCCTCCTTCTTACT CCTGCTAATGTGGACAGCAGACTTTATCCCTCCTTCTTACT < 41bp 1 0.602524041928738 1 0.939625382423401 experiment 0.794951916142525 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770654 chr10:73770651 . . 0 hm6A_associated_SNPs_12185 4 Benign Skeletal dysplasia RCV000309612.1
1137 chr10 73770651 73770651 1 + T C rs4148949 73770654 + 73770634 73770674 41 CCTGCTAATGTGGACAGTAGACTTTATCCCTCCTTCTTACT CCTGCTAATGTGGACAGCAGACTTTATCCCTCCTTCTTACT < 41bp 1 0.602524041928738 1 0.939625382423401 experiment 0.794951916142525 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770654 chr10:73770651 . . 0 hm6A_associated_SNPs_12185 4 Benign Larsen syndrome RCV000344745.1
1138 chr10 73770651 73770651 1 + T C rs4148949 73770654 + 73770634 73770674 41 CCTGCTAATGTGGACAGTAGACTTTATCCCTCCTTCTTACT CCTGCTAATGTGGACAGCAGACTTTATCCCTCCTTCTTACT < 41bp 1 0.602524041928738 1 0.939625382423401 experiment 0.794951916142525 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770654 chr10:73770651 . . 0 hm6A_associated_SNPs_12185 4 Benign Spondyloepiphyseal dysplasia with congenital joint dislocations RCV000366701.1
1139 chr10 73770651 73770651 1 + T C rs4148949 73770654 + 73770634 73770674 41 CCTGCTAATGTGGACAGTAGACTTTATCCCTCCTTCTTACT CCTGCTAATGTGGACAGCAGACTTTATCCCTCCTTCTTACT < 41bp 1 0.602524041928738 1 0.939625382423401 experiment 0.794951916142525 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 CHST3 ENSG00000122863 UTR3 Human protein_coding chr10:73770654 chr10:73770651 . . 0 hm6A_associated_SNPs_12185 4 Benign Spondyloepiphyseal dysplasia RCV000395653.1
1140 chr10 74692242 74692242 1 + C T rs145480078 74692247 + 74692227 74692267 41 GTCTACAGGGCCAGACGCTAACAGGCGGCCCGATCCGCATC GTCTACAGGGCCAGATGCTAACAGGCGGCCCGATCCGCATC < 41bp 1 0.614349045862563 1 0.889145791530609 experiment 0.771301908274875 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 16 OIT3 ENSG00000138315 CDS Human protein_coding chr10:74692247 chr10:74692242 nonsynonymous SNV 0.025 1 hm6A_associated_SNPs_12200 1 Uncertain significance Malignant tumor of prostate RCV000205640.1
1141 chr10 75672724 75672724 1 + G A rs201299522 75672742 + 75672722 75672762 41 CCGAGGAAAGGCCAGCACTGACACCATGGGCCGGCCCTGCC CCAAGGAAAGGCCAGCACTGACACCATGGGCCGGCCCTGCC < 41bp 1 0.444974031549485 1 0.0278255343437195 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 3 PLAU ENSG00000122861 CDS Human protein_coding chr10:75672742 chr10:75672724 nonsynonymous SNV 0.999 3 hm6A_associated_SNPs_12217 1 Likely benign Quebec platelet disorder RCV000271088.1
1142 chr10 75673879 75673879 1 + C T rs2227568 75673860 + 75673840 75673880 41 ACACAAGGACTACAGCGCTGACACGCTTGCTCACCACAACG ACACAAGGACTACAGCGCTGACACGCTTGCTCACCACAATG < 41bp 1 0.472246307742219 1 0.948131918907166 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 40 PLAU ENSG00000122861 CDS Human protein_coding chr10:75673860 chr10:75673879 synonymous SNV . 0 hm6A_associated_SNPs_12218 1 Benign Quebec platelet disorder RCV000393582.1
1143 chr10 75830527 75830527 1 + G A rs56314318 75830543 + 75830523 75830563 41 CAAGGGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC CAAGAGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC < 41bp 1 0.425979689529021 1 0.491763919591904 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 5 VCL ENSG00000035403 CDS Human protein_coding chr10:75830543 chr10:75830527 synonymous SNV . 0 hm6A_associated_SNPs_12219 5 Benign Cardiomyopathy RCV000030580.3
1144 chr10 75830527 75830527 1 + G A rs56314318 75830543 + 75830523 75830563 41 CAAGGGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC CAAGAGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC < 41bp 1 0.425979689529021 1 0.491763919591904 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 5 VCL ENSG00000035403 CDS Human protein_coding chr10:75830543 chr10:75830527 synonymous SNV . 0 hm6A_associated_SNPs_12219 5 Benign not specified RCV000038829.4
1145 chr10 75830527 75830527 1 + G A rs56314318 75830543 + 75830523 75830563 41 CAAGGGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC CAAGAGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC < 41bp 1 0.425979689529021 1 0.491763919591904 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 5 VCL ENSG00000035403 CDS Human protein_coding chr10:75830543 chr10:75830527 synonymous SNV . 0 hm6A_associated_SNPs_12219 5 Benign Cardiovascular phenotype RCV000251572.1
1146 chr10 75830527 75830527 1 + G A rs56314318 75830543 + 75830523 75830563 41 CAAGGGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC CAAGAGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC < 41bp 1 0.425979689529021 1 0.491763919591904 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 5 VCL ENSG00000035403 CDS Human protein_coding chr10:75830543 chr10:75830527 synonymous SNV . 0 hm6A_associated_SNPs_12219 5 Likely benign Dilated Cardiomyopathy, Dominant RCV000299667.1
1147 chr10 75830527 75830527 1 + G A rs56314318 75830543 + 75830523 75830563 41 CAAGGGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC CAAGAGGCATCCTCTCTGGAACATCAGACCTGCTCCTTACC < 41bp 1 0.425979689529021 1 0.491763919591904 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 5 VCL ENSG00000035403 CDS Human protein_coding chr10:75830543 chr10:75830527 synonymous SNV . 0 hm6A_associated_SNPs_12219 5 Benign Dilated cardiomyopathy 1W RCV000473723.1
1148 chr10 75854083 75854083 1 + C T rs2229507 75854091 + 75854071 75854111 41 GGTGGCCACGGCCCTGCAGAACCTGCAGACCAAAACCAACC GGTGGCCACGGCTCTGCAGAACCTGCAGACCAAAACCAACC < 41bp 1 0.158396613162405 1 0.912962555885315 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 13 VCL ENSG00000035403 CDS Human protein_coding chr10:75854091 chr10:75854083 synonymous SNV . 0 hm6A_associated_SNPs_12222 4 Benign not specified RCV000038795.4
1149 chr10 75854083 75854083 1 + C T rs2229507 75854091 + 75854071 75854111 41 GGTGGCCACGGCCCTGCAGAACCTGCAGACCAAAACCAACC GGTGGCCACGGCTCTGCAGAACCTGCAGACCAAAACCAACC < 41bp 1 0.158396613162405 1 0.912962555885315 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 13 VCL ENSG00000035403 CDS Human protein_coding chr10:75854091 chr10:75854083 synonymous SNV . 0 hm6A_associated_SNPs_12222 4 Benign Cardiovascular phenotype RCV000251434.1
1150 chr10 75854083 75854083 1 + C T rs2229507 75854091 + 75854071 75854111 41 GGTGGCCACGGCCCTGCAGAACCTGCAGACCAAAACCAACC GGTGGCCACGGCTCTGCAGAACCTGCAGACCAAAACCAACC < 41bp 1 0.158396613162405 1 0.912962555885315 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 13 VCL ENSG00000035403 CDS Human protein_coding chr10:75854091 chr10:75854083 synonymous SNV . 0 hm6A_associated_SNPs_12222 4 Likely benign Dilated Cardiomyopathy, Dominant RCV000408187.1
1151 chr10 75854083 75854083 1 + C T rs2229507 75854091 + 75854071 75854111 41 GGTGGCCACGGCCCTGCAGAACCTGCAGACCAAAACCAACC GGTGGCCACGGCTCTGCAGAACCTGCAGACCAAAACCAACC < 41bp 1 0.158396613162405 1 0.912962555885315 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 13 VCL ENSG00000035403 CDS Human protein_coding chr10:75854091 chr10:75854083 synonymous SNV . 0 hm6A_associated_SNPs_12222 4 Benign Dilated cardiomyopathy 1W RCV000471871.1
1152 chr10 75855541 75855541 1 + C T rs137877092 75855524 + 75855504 75855544 41 GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGACCTG GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGATCTG < 41bp 1 0.329600451977667 1 0.601427614688873 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 38 VCL ENSG00000035403 CDS Human protein_coding chr10:75855524 chr10:75855541 synonymous SNV . 0 hm6A_associated_SNPs_12223 4 other not specified RCV000038803.3
1153 chr10 75855541 75855541 1 + C T rs137877092 75855524 + 75855504 75855544 41 GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGACCTG GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGATCTG < 41bp 1 0.329600451977667 1 0.601427614688873 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 38 VCL ENSG00000035403 CDS Human protein_coding chr10:75855524 chr10:75855541 synonymous SNV . 0 hm6A_associated_SNPs_12223 4 Benign Cardiovascular phenotype RCV000246206.1
1154 chr10 75855541 75855541 1 + C T rs137877092 75855524 + 75855504 75855544 41 GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGACCTG GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGATCTG < 41bp 1 0.329600451977667 1 0.601427614688873 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 38 VCL ENSG00000035403 CDS Human protein_coding chr10:75855524 chr10:75855541 synonymous SNV . 0 hm6A_associated_SNPs_12223 4 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000402830.1
1155 chr10 75855541 75855541 1 + C T rs137877092 75855524 + 75855504 75855544 41 GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGACCTG GTGACCGAGTGGACCAGCTGACAGCCCAGCTGGCTGATCTG < 41bp 1 0.329600451977667 1 0.601427614688873 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 38 VCL ENSG00000035403 CDS Human protein_coding chr10:75855524 chr10:75855541 synonymous SNV . 0 hm6A_associated_SNPs_12223 4 Benign Dilated cardiomyopathy 1W RCV000473043.1
1156 chr10 75865095 75865095 1 + A G rs538142998 75865097 + 75865077 75865117 41 TGCAAAAGCTGTGGCTGGAAACATTTCCGACCCTGGTAAGC TGCAAAAGCTGTGGCTGGGAACATTTCCGACCCTGGTAAGC < 41bp 1 0.304584237508971 1 0.915005803108215 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 19 VCL ENSG00000035403 CDS Human protein_coding chr10:75865097 chr10:75865095 synonymous SNV . 0 hm6A_associated_SNPs_12224 1 Likely benign Cardiovascular phenotype RCV000252899.1
1157 chr10 75867025 75867025 1 + C G rs140381835 75867009 + 75866989 75867029 41 ACTGCAAAAGAGCTTCCTGGACTCAGGATATCGGATCCTGG ACTGCAAAAGAGCTTCCTGGACTCAGGATATCGGATGCTGG < 41bp 1 0.160670089000498 1 0.935552716255188 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 VCL ENSG00000035403 CDS Human protein_coding chr10:75867009 chr10:75867025 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_12225 2 Likely benign Dilated cardiomyopathy 1W RCV000234166.2
1158 chr10 75867025 75867025 1 + C G rs140381835 75867009 + 75866989 75867029 41 ACTGCAAAAGAGCTTCCTGGACTCAGGATATCGGATCCTGG ACTGCAAAAGAGCTTCCTGGACTCAGGATATCGGATGCTGG < 41bp 1 0.160670089000498 1 0.935552716255188 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 37 VCL ENSG00000035403 CDS Human protein_coding chr10:75867009 chr10:75867025 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_12225 2 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000330495.1
1159 chr10 75878075 75878075 1 + A G rs528724911 75878080 + 75878060 75878100 41 GGGCCTCTTCAAATTAGAAGACATTTATACTCTTTTTTCAT GGGCCTCTTCAAATTGGAAGACATTTATACTCTTTTTTCAT < 41bp 1 0.59784744383415 1 0.920013546943665 experiment 0.8043051123317 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 16 VCL ENSG00000035403 UTR3 Human protein_coding chr10:75878080 chr10:75878075 . . 0 hm6A_associated_SNPs_12226 1 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000393788.1
1160 chr10 75878219 75878219 1 + G C rs77295081 75878203 + 75878183 75878223 41 ACTGGGTTTCTAGCCCATGGACTTCACATAAGCTCAGAATC ACTGGGTTTCTAGCCCATGGACTTCACATAAGCTCACAATC < 41bp 1 0.542048177822269 1 0.876916110515594 experiment 0.915903644355463 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 37 VCL ENSG00000035403 UTR3 Human protein_coding chr10:75878203 chr10:75878219 . . 0 hm6A_associated_SNPs_12227 1 Likely benign Dilated Cardiomyopathy, Dominant RCV000346781.1
1161 chr10 75878219 75878219 1 + G C rs77295081 75878231 + 75878211 75878251 41 TAAGCTCAGAATCCAAGTGAACACTAGCCAGACACTCTGCT TAAGCTCACAATCCAAGTGAACACTAGCCAGACACTCTGCT < 41bp 1 0.698274635737501 1 0.197823762893677 experiment 0.603450728524998 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 9 VCL ENSG00000035403 UTR3 Human protein_coding chr10:75878231 chr10:75878219 . . 0 hm6A_associated_SNPs_12228 1 Likely benign Dilated Cardiomyopathy, Dominant RCV000346781.1
1162 chr10 75878579 75878579 1 + T C rs79816413 75878572 + 75878552 75878592 41 CTAGTTTCCCACAATATAAAACTGTACTTCACTGTCAGGAA CTAGTTTCCCACAATATAAAACTGTACCTCACTGTCAGGAA < 41bp 1 0.169582873617571 1 0.157330483198166 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 28 VCL ENSG00000035403 UTR3 Human protein_coding chr10:75878572 chr10:75878579 . . 0 hm6A_associated_SNPs_12229 1 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000311744.1
1163 chr10 76468202 76468202 1 + G A rs148819558 76468218 + 76468198 76468238 41 CACTGATGGAAGAGCTGAAAACACAAGCCCAGGAGTGCAGA CACTAATGGAAGAGCTGAAAACACAAGCCCAGGAGTGCAGA < 41bp 1 0.559251490353352 1 0.285149306058884 experiment 0.881497019293296 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 ADK ENSG00000156110 CDS Human protein_coding chr10:76468218 chr10:76468202 synonymous SNV . 0 hm6A_associated_SNPs_12231 1 Uncertain significance Hypermethioninemia RCV000391987.1
1164 chr10 76788299 76788299 1 + C G rs147746065 76788302 + 76788282 76788322 41 GGCAGTAAAGACAATCCCGAACCTCTAAAGTGCAAACAAGT GGCAGTAAAGACAATCCGGAACCTCTAAAGTGCAAACAAGT < 41bp 1 0.728251830551091 1 0.961750984191895 experiment 0.543496338897819 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 18 KAT6B ENSG00000156650 CDS Human protein_coding chr10:76788302 chr10:76788299 synonymous SNV . 0 hm6A_associated_SNPs_12232 1 Likely benign not specified RCV000243332.1
1165 chr10 79795367 79795367 1 + T C rs57866839 79795347 + 79795327 79795367 41 AACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTT AACTAGCCAAAATGTACAAGACCACACCGGATGTCATCTTC < 41bp 1 0.288523051113699 1 0.945218563079834 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|26593424;GSE73405;miCLIP;HepG2;Heat_shock|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 41 RPS24 ENSG00000138326 CDS Human protein_coding chr10:79795347 chr10:79795367 synonymous SNV . 0 hm6A_associated_SNPs_12243 1 Likely benign Diamond-Blackfan anemia RCV000341734.1
1166 chr10 79795367 79795367 1 + T C rs57866839 79795383 + 79795363 79795403 41 TCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAG TCTTCGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAG < 41bp 1 0.292589696766291 1 0.993038058280945 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 5 RPS24 ENSG00000138326 CDS Human protein_coding chr10:79795383 chr10:79795367 synonymous SNV . 0 hm6A_associated_SNPs_12244 1 Likely benign Diamond-Blackfan anemia RCV000341734.1
1167 chr10 79795376 79795376 1 + A G rs6496 79795383 + 79795363 79795403 41 TCTTTGTATTTGGATTCAGAACTCATTTTGGTGGTGGCAAG TCTTTGTATTTGGGTTCAGAACTCATTTTGGTGGTGGCAAG < 41bp 1 0.279142744672287 1 0.977215766906738 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 14 RPS24 ENSG00000138326 CDS Human protein_coding chr10:79795383 chr10:79795376 synonymous SNV . 0 hm6A_associated_SNPs_12245 1 other Diamond-Blackfan anemia RCV000400995.1
1168 chr10 79797035 79797035 1 + A G rs139181869 79797030 + 79797010 79797050 41 GAATGAAGAAAGTCAGGGGGACTGCAAAGGCCAATGTTGGT GAATGAAGAAAGTCAGGGGGACTGCGAAGGCCAATGTTGGT < 41bp 1 0.575408006668039 1 0.961923122406006 experiment 0.849183986663921 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 26 RPS24 ENSG00000138326 CDS Human protein_coding chr10:79797030 chr10:79797035 synonymous SNV . 0 hm6A_associated_SNPs_12246 1 Benign Diamond-Blackfan anemia RCV000458897.1
1169 chr10 79800452 79800452 1 + T C rs146068394 79800433 + 79800413 79800453 41 ACTGTGGATTTTTCGCAAGAACATTAATAAACTAAAAACTT ACTGTGGATTTTTCGCAAGAACATTAATAAACTAAAAACCT < 41bp 1 0.42465353713226 1 0.920412421226501 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 40 RPS24 ENSG00000138326 UTR3 Human protein_coding chr10:79800433 chr10:79800452 . . 0 hm6A_associated_SNPs_12248 1 Likely benign Diamond-Blackfan anemia RCV000326342.1
1170 chr10 79800452 79800452 1 + T C rs146068394 79800443 + 79800423 79800463 41 TTTCGCAAGAACATTAATAAACTAAAAACTTCATGTGTCTG TTTCGCAAGAACATTAATAAACTAAAAACCTCATGTGTCTG < 41bp 1 0.283104418831152 1 0.895941257476807 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 30 RPS24 ENSG00000138326 UTR3 Human protein_coding chr10:79800443 chr10:79800452 . . 0 hm6A_associated_SNPs_12249 1 Likely benign Diamond-Blackfan anemia RCV000326342.1
1171 chr10 79800452 79800452 1 + T C rs146068394 79800450 + 79800430 79800470 41 AGAACATTAATAAACTAAAAACTTCATGTGTCTGGTTGTTT AGAACATTAATAAACTAAAAACCTCATGTGTCTGGTTGTTT < 41bp 1 0.0693375903707859 1 0.784858703613281 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 RPS24 ENSG00000138326 UTR3 Human protein_coding chr10:79800450 chr10:79800452 . . 0 hm6A_associated_SNPs_12250 1 Likely benign Diamond-Blackfan anemia RCV000326342.1
1172 chr10 85976114 85976114 1 + C T rs181800100 85976111 + 85976091 85976131 41 CAGTATTAAGCAAGAGGTGGACTCGAGCAATCCAGGAGCCC CAGTATTAAGCAAGAGGTGGACTTGAGCAATCCAGGAGCCC < 41bp 1 0.0804015476305725 1 0.965288281440735 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 24 CDHR1 ENSG00000148600 UTR3 Human protein_coding chr10:85976111 chr10:85976114 . . 0 hm6A_associated_SNPs_12296 1 Uncertain significance Cone-Rod Dystrophy, Recessive RCV000353119.1
1173 chr10 88684240 88684240 1 + T C rs150762162 88684251 + 88684231 88684271 41 TAAAGCATCTGTAAATTTGGACTGTTTTCCTTCAACCACCA TAAAGCATCCGTAAATTTGGACTGTTTTCCTTCAACCACCA < 41bp 1 0.623008677893301 1 0.995376944541931 experiment 0.753982644213399 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 BMPR1A ENSG00000107779 UTR3 Human protein_coding chr10:88684251 chr10:88684240 . . 0 hm6A_associated_SNPs_12298 1 Likely benign Juvenile Polyposis RCV000324371.1
1174 chr10 89623323 89623323 1 + G A rs1044322 89623326 + 89623306 89623346 41 GCGGGCGGTGATGTGGCGGGACTCTTTATGCGCTGCGGCAG GCGGGCGGTGATGTGGCAGGACTCTTTATGCGCTGCGGCAG < 41bp 1 0.454569491411719 1 0.966383099555969 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 UTR5 Human protein_coding chr10:89623326 chr10:89623323 . . 0 hm6A_associated_SNPs_12309 1 Benign not specified RCV000127650.2
1175 chr10 94397295 94397295 1 + A T rs116942055 94397279 + 94397259 94397299 41 ACCTAACTGAAGACCTGAAGACAATAAAGCAGACCCATTCC ACCTAACTGAAGACCTGAAGACAATAAAGCAGACCCTTTCC < 41bp 1 0.506783265980046 1 0.973785281181335 experiment 0.986433468039909 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 37 KIF11 ENSG00000138160 CDS Human protein_coding chr10:94397279 chr10:94397295 nonsynonymous SNV 0.962 1 hm6A_associated_SNPs_12337 1 Benign not specified RCV000252882.1
1176 chr10 99498234 99498234 1 + G A rs3818876 99498241 + 99498221 99498261 41 ATTATGGTTACAGGATGCAGACATCAGAACGTGAGGGGAGT ATTATGGTTACAGAATGCAGACATCAGAACGTGAGGGGAGT < 41bp 1 0.534882923739272 1 0.0221515595912933 experiment 0.930234152521456 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 14 ZFYVE27 ENSG00000155256 UTR5 Human protein_coding chr10:99498241 chr10:99498234 . . 0 hm6A_associated_SNPs_12405 1 Benign Spastic Paraplegia, Dominant RCV000318508.1
1177 chr10 102747727 102747727 1 + C T rs113159821 102747714 + 102747694 102747734 41 AGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAG AGGTGAGGTGGCGGAGAGAAACTAACTAACGGATCATAGAG < 41bp 1 0.203053104648663 1 0.862798273563385 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 34 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747714 chr10:102747727 . . 0 hm6A_associated_SNPs_12458 4 Likely benign Spinocerebellar Ataxia, Recessive RCV000263602.1
1178 chr10 102747727 102747727 1 + C T rs113159821 102747714 + 102747694 102747734 41 AGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAG AGGTGAGGTGGCGGAGAGAAACTAACTAACGGATCATAGAG < 41bp 1 0.203053104648663 1 0.862798273563385 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 34 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747714 chr10:102747727 . . 0 hm6A_associated_SNPs_12458 4 Likely benign Ataxia Neuropathy Spectrum Disorders RCV000285273.1
1179 chr10 102747727 102747727 1 + C T rs113159821 102747714 + 102747694 102747734 41 AGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAG AGGTGAGGTGGCGGAGAGAAACTAACTAACGGATCATAGAG < 41bp 1 0.203053104648663 1 0.862798273563385 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 34 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747714 chr10:102747727 . . 0 hm6A_associated_SNPs_12458 4 Likely benign Mitochondrial DNA depletion syndrome RCV000321122.1
1180 chr10 102747727 102747727 1 + C T rs113159821 102747714 + 102747694 102747734 41 AGGTGAGGTGGCGGAGAGAAACTAACTAACGGACCATAGAG AGGTGAGGTGGCGGAGAGAAACTAACTAACGGATCATAGAG < 41bp 1 0.203053104648663 1 0.862798273563385 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 34 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747714 chr10:102747727 . . 0 hm6A_associated_SNPs_12458 4 Likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000378134.1
1181 chr10 102747727 102747727 1 + C T rs113159821 102747726 + 102747706 102747746 41 GGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCA GGAGAGAAACTAACTAACGGATCATAGAGGTGGGGGAGCCA Direct Loss 1 0.389039502103332 1 0.866776585578918 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 22 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747726 chr10:102747727 . . 0 hm6A_associated_SNPs_12459 4 Likely benign Spinocerebellar Ataxia, Recessive RCV000263602.1
1182 chr10 102747727 102747727 1 + C T rs113159821 102747726 + 102747706 102747746 41 GGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCA GGAGAGAAACTAACTAACGGATCATAGAGGTGGGGGAGCCA Direct Loss 1 0.389039502103332 1 0.866776585578918 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 22 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747726 chr10:102747727 . . 0 hm6A_associated_SNPs_12459 4 Likely benign Ataxia Neuropathy Spectrum Disorders RCV000285273.1
1183 chr10 102747727 102747727 1 + C T rs113159821 102747726 + 102747706 102747746 41 GGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCA GGAGAGAAACTAACTAACGGATCATAGAGGTGGGGGAGCCA Direct Loss 1 0.389039502103332 1 0.866776585578918 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 22 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747726 chr10:102747727 . . 0 hm6A_associated_SNPs_12459 4 Likely benign Mitochondrial DNA depletion syndrome RCV000321122.1
1184 chr10 102747727 102747727 1 + C T rs113159821 102747726 + 102747706 102747746 41 GGAGAGAAACTAACTAACGGACCATAGAGGTGGGGGAGCCA GGAGAGAAACTAACTAACGGATCATAGAGGTGGGGGAGCCA Direct Loss 1 0.389039502103332 1 0.866776585578918 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 22 TWNK ENSG00000055950;ENSG00000107815 upstream Human other chr10:102747726 chr10:102747727 . . 0 hm6A_associated_SNPs_12459 4 Likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000378134.1
1185 chr10 102753568 102753568 1 + C T rs41291468 102753566 + 102753546 102753586 41 AATGAACAAATTAGCAGAAAACCTAGTTTTAGTGAAAAATG AATGAACAAATTAGCAGAAAACTTAGTTTTAGTGAAAAATG < 41bp 1 0.716443100011395 1 0.0934004187583923 experiment 0.56711379997721 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 23 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753566 chr10:102753568 . . 0 hm6A_associated_SNPs_12460 4 Likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000261655.1
1186 chr10 102753568 102753568 1 + C T rs41291468 102753566 + 102753546 102753586 41 AATGAACAAATTAGCAGAAAACCTAGTTTTAGTGAAAAATG AATGAACAAATTAGCAGAAAACTTAGTTTTAGTGAAAAATG < 41bp 1 0.716443100011395 1 0.0934004187583923 experiment 0.56711379997721 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 23 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753566 chr10:102753568 . . 0 hm6A_associated_SNPs_12460 4 Likely benign Ataxia Neuropathy Spectrum Disorders RCV000316885.1
1187 chr10 102753568 102753568 1 + C T rs41291468 102753566 + 102753546 102753586 41 AATGAACAAATTAGCAGAAAACCTAGTTTTAGTGAAAAATG AATGAACAAATTAGCAGAAAACTTAGTTTTAGTGAAAAATG < 41bp 1 0.716443100011395 1 0.0934004187583923 experiment 0.56711379997721 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 23 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753566 chr10:102753568 . . 0 hm6A_associated_SNPs_12460 4 Likely benign Spinocerebellar Ataxia, Recessive RCV000320279.1
1188 chr10 102753568 102753568 1 + C T rs41291468 102753566 + 102753546 102753586 41 AATGAACAAATTAGCAGAAAACCTAGTTTTAGTGAAAAATG AATGAACAAATTAGCAGAAAACTTAGTTTTAGTGAAAAATG < 41bp 1 0.716443100011395 1 0.0934004187583923 experiment 0.56711379997721 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 23 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753566 chr10:102753568 . . 0 hm6A_associated_SNPs_12460 4 Likely benign Mitochondrial DNA depletion syndrome RCV000356361.1
1189 chr10 102753722 102753722 1 + C T rs148810959 102753714 + 102753694 102753734 41 AGAAGGAGAGAGCCACGTGAACATCCGGCGAAGGGGACCCA AGAAGGAGAGAGCCACGTGAACATCCGGTGAAGGGGACCCA < 41bp 1 0.716595294603636 1 0.0861962735652924 experiment 0.566809410792728 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 29 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753714 chr10:102753722 . . 0 hm6A_associated_SNPs_12463 4 Likely benign Ataxia Neuropathy Spectrum Disorders RCV000261316.1
1190 chr10 102753722 102753722 1 + C T rs148810959 102753714 + 102753694 102753734 41 AGAAGGAGAGAGCCACGTGAACATCCGGCGAAGGGGACCCA AGAAGGAGAGAGCCACGTGAACATCCGGTGAAGGGGACCCA < 41bp 1 0.716595294603636 1 0.0861962735652924 experiment 0.566809410792728 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 29 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753714 chr10:102753722 . . 0 hm6A_associated_SNPs_12463 4 Likely benign Mitochondrial DNA depletion syndrome RCV000301336.1
1191 chr10 102753722 102753722 1 + C T rs148810959 102753714 + 102753694 102753734 41 AGAAGGAGAGAGCCACGTGAACATCCGGCGAAGGGGACCCA AGAAGGAGAGAGCCACGTGAACATCCGGTGAAGGGGACCCA < 41bp 1 0.716595294603636 1 0.0861962735652924 experiment 0.566809410792728 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 29 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753714 chr10:102753722 . . 0 hm6A_associated_SNPs_12463 4 Likely benign Spinocerebellar Ataxia, Recessive RCV000356122.1
1192 chr10 102753722 102753722 1 + C T rs148810959 102753714 + 102753694 102753734 41 AGAAGGAGAGAGCCACGTGAACATCCGGCGAAGGGGACCCA AGAAGGAGAGAGCCACGTGAACATCCGGTGAAGGGGACCCA < 41bp 1 0.716595294603636 1 0.0861962735652924 experiment 0.566809410792728 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 29 TWNK ENSG00000107815 UTR3 Human protein_coding chr10:102753714 chr10:102753722 . . 0 hm6A_associated_SNPs_12463 4 Likely benign Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions RCV000395043.1
1193 chr10 104391848 104391848 1 + C T rs118033896 104391835 + 104391815 104391855 41 CATGACCAGCCTCTCCCTGAACTCTCTCTTGCTCGGGACCT CATGACCAGCCTCTCCCTGAACTCTCTCTTGCTTGGGACCT < 41bp 1 0.575723941569072 1 0.901036620140076 experiment 0.848552116861856 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 34 SUFU ENSG00000107882 UTR3 Human protein_coding chr10:104391835 chr10:104391848 . . 0 hm6A_associated_SNPs_12488 1 Uncertain significance Medulloblastoma RCV000341098.1
1194 chr10 112337235 112337235 1 + A G rs146433240 112337237 + 112337217 112337257 41 GATTATTTTTGATAATTCAGACAACCGGTTACCAGTAAGTA GATTATTTTTGATAATTCGGACAACCGGTTACCAGTAAGTA < 41bp 1 0.745984160930744 1 0.753728151321411 experiment 0.508031678138513 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 19 SMC3 ENSG00000108055 CDS Human protein_coding chr10:112337237 chr10:112337235 synonymous SNV . 0 hm6A_associated_SNPs_12537 3 Uncertain significance Cornelia de Lange syndrome 3 RCV000147590.1
1195 chr10 112337235 112337235 1 + A G rs146433240 112337237 + 112337217 112337257 41 GATTATTTTTGATAATTCAGACAACCGGTTACCAGTAAGTA GATTATTTTTGATAATTCGGACAACCGGTTACCAGTAAGTA < 41bp 1 0.745984160930744 1 0.753728151321411 experiment 0.508031678138513 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 19 SMC3 ENSG00000108055 CDS Human protein_coding chr10:112337237 chr10:112337235 synonymous SNV . 0 hm6A_associated_SNPs_12537 3 other not specified RCV000178906.2
1196 chr10 112337235 112337235 1 + A G rs146433240 112337237 + 112337217 112337257 41 GATTATTTTTGATAATTCAGACAACCGGTTACCAGTAAGTA GATTATTTTTGATAATTCGGACAACCGGTTACCAGTAAGTA < 41bp 1 0.745984160930744 1 0.753728151321411 experiment 0.508031678138513 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 19 SMC3 ENSG00000108055 CDS Human protein_coding chr10:112337237 chr10:112337235 synonymous SNV . 0 hm6A_associated_SNPs_12537 3 Likely benign Cornelia de Lange Syndrome RCV000327282.1
1197 chr10 112598995 112598995 1 + G A rs540217875 112598986 + 112598966 112599006 41 TCAGGGTTTCCCATTCTTGGACAGTCCGAGGCTGTGACCTG TCAGGGTTTCCCATTCTTGGACAGTCCGAAGCTGTGACCTG < 41bp 1 0.141595295300518 1 0.929830431938171 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 30 RBM20 ENSG00000203867 UTR3 Human protein_coding chr10:112598986 chr10:112598995 . . 0 hm6A_associated_SNPs_12538 1 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000402030.1
1198 chr10 112769023 112769023 1 + C T rs146147503 112769022 + 112769002 112769042 41 TTAGGTTCTTATCTTATCAAACAATCTTCTAAAGAAGCTTC TTAGGTTCTTATCTTATCAAATAATCTTCTAAAGAAGCTTC Direct Loss 1 0.657370212716299 1 0.0603075921535492 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 SHOC2 ENSG00000108061 CDS Human protein_coding chr10:112769022 chr10:112769023 synonymous SNV . 0 hm6A_associated_SNPs_12544 2 other not specified RCV000128042.3
1199 chr10 112769023 112769023 1 + C T rs146147503 112769022 + 112769002 112769042 41 TTAGGTTCTTATCTTATCAAACAATCTTCTAAAGAAGCTTC TTAGGTTCTTATCTTATCAAATAATCTTCTAAAGAAGCTTC Direct Loss 1 0.657370212716299 1 0.0603075921535492 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 SHOC2 ENSG00000108061 CDS Human protein_coding chr10:112769022 chr10:112769023 synonymous SNV . 0 hm6A_associated_SNPs_12544 2 Benign Rasopathy RCV000459744.1
1200 chr10 112772534 112772534 1 + C A rs372493479 112772521 + 112772501 112772541 41 ATCATAAACTACAGTAGGTAACTTTAAGGATTTCTTCCTAT ATCATAAACTACAGTAGGTAACTTTAAGGATTTATTCCTAT < 41bp 1 0.234459908981397 1 0.0714560747146606 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 34 SHOC2 ENSG00000108061 UTR3 Human protein_coding chr10:112772521 chr10:112772534 . . 0 hm6A_associated_SNPs_12547 1 Uncertain significance Noonan-like syndrome with loose anagen hair RCV000321463.1
1201 chr10 121429633 121429633 1 + T C rs2234962 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGC < 41bp 1 0.383256884250345 1 0.832678914070129 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429633 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_12594 4 Benign not specified RCV000037893.9
1202 chr10 121429633 121429633 1 + T C rs2234962 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGC < 41bp 1 0.383256884250345 1 0.832678914070129 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429633 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_12594 4 Benign Cardiovascular phenotype RCV000243456.1
1203 chr10 121429633 121429633 1 + T C rs2234962 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGC < 41bp 1 0.383256884250345 1 0.832678914070129 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429633 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_12594 4 Benign Dilated Cardiomyopathy, Dominant RCV000276835.1
1204 chr10 121429633 121429633 1 + T C rs2234962 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGCGTGGACAGGTGGCAGC < 41bp 1 0.383256884250345 1 0.832678914070129 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429633 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_12594 4 Benign Myofibrillar Myopathy, Dominant RCV000369042.1
1205 chr10 121429645 121429645 1 + G A rs61756328 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGACAGC < 41bp 1 0.459197806786265 1 0.894768118858337 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 37 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429645 nonsynonymous SNV 0.900 0 hm6A_associated_SNPs_12595 6 other not specified RCV000037894.7
1206 chr10 121429645 121429645 1 + G A rs61756328 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGACAGC < 41bp 1 0.459197806786265 1 0.894768118858337 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 37 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429645 nonsynonymous SNV 0.900 0 hm6A_associated_SNPs_12595 6 Benign Dilated cardiomyopathy 1HH RCV000205166.3
1207 chr10 121429645 121429645 1 + G A rs61756328 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGACAGC < 41bp 1 0.459197806786265 1 0.894768118858337 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 37 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429645 nonsynonymous SNV 0.900 0 hm6A_associated_SNPs_12595 6 Benign Myofibrillar myopathy, BAG3-related RCV000205166.3
1208 chr10 121429645 121429645 1 + G A rs61756328 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGACAGC < 41bp 1 0.459197806786265 1 0.894768118858337 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 37 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429645 nonsynonymous SNV 0.900 0 hm6A_associated_SNPs_12595 6 Likely benign Cardiovascular phenotype RCV000247095.1
1209 chr10 121429645 121429645 1 + G A rs61756328 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGACAGC < 41bp 1 0.459197806786265 1 0.894768118858337 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 37 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429645 nonsynonymous SNV 0.900 0 hm6A_associated_SNPs_12595 6 Likely benign Dilated Cardiomyopathy, Dominant RCV000315530.1
1210 chr10 121429645 121429645 1 + G A rs61756328 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGACAGC < 41bp 1 0.459197806786265 1 0.894768118858337 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 37 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429645 nonsynonymous SNV 0.900 0 hm6A_associated_SNPs_12595 6 Likely benign Myofibrillar Myopathy, Dominant RCV000353959.1
1211 chr10 121429649 121429649 1 + C G rs572038196 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGG < 41bp 1 0.456297730663325 1 0.863423705101013 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 41 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429649 nonsynonymous SNV 0.578 0 hm6A_associated_SNPs_12596 3 Uncertain significance not specified RCV000156087.2
1212 chr10 121429649 121429649 1 + C G rs572038196 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGG < 41bp 1 0.456297730663325 1 0.863423705101013 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 41 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429649 nonsynonymous SNV 0.578 0 hm6A_associated_SNPs_12596 3 Likely benign Myofibrillar Myopathy, Dominant RCV000322081.1
1213 chr10 121429649 121429649 1 + C G rs572038196 121429629 + 121429609 121429649 41 GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGC GAAACCACTCAGCCAGATAAACAGTGTGGACAGGTGGCAGG < 41bp 1 0.456297730663325 1 0.863423705101013 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 41 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121429629 chr10:121429649 nonsynonymous SNV 0.578 0 hm6A_associated_SNPs_12596 3 Likely benign Dilated Cardiomyopathy, Dominant RCV000379103.1
1214 chr10 121436068 121436068 1 + T G rs3858339 121436059 + 121436039 121436079 41 CCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCC CCAGGCCCAGTTGGACCAGAACTCCCTCCGGGACACATCCC < 41bp 1 0.763238455037512 1 0.972346663475037 experiment 0.473523089924975 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121436059 chr10:121436068 synonymous SNV . 0 hm6A_associated_SNPs_12597 4 Benign not specified RCV000037883.8
1215 chr10 121436068 121436068 1 + T G rs3858339 121436059 + 121436039 121436079 41 CCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCC CCAGGCCCAGTTGGACCAGAACTCCCTCCGGGACACATCCC < 41bp 1 0.763238455037512 1 0.972346663475037 experiment 0.473523089924975 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121436059 chr10:121436068 synonymous SNV . 0 hm6A_associated_SNPs_12597 4 Benign Cardiovascular phenotype RCV000249466.1
1216 chr10 121436068 121436068 1 + T G rs3858339 121436059 + 121436039 121436079 41 CCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCC CCAGGCCCAGTTGGACCAGAACTCCCTCCGGGACACATCCC < 41bp 1 0.763238455037512 1 0.972346663475037 experiment 0.473523089924975 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121436059 chr10:121436068 synonymous SNV . 0 hm6A_associated_SNPs_12597 4 Benign Dilated Cardiomyopathy, Dominant RCV000269109.1
1217 chr10 121436068 121436068 1 + T G rs3858339 121436059 + 121436039 121436079 41 CCAGGCCCAGTTGGACCAGAACTCCCTCCTGGACACATCCC CCAGGCCCAGTTGGACCAGAACTCCCTCCGGGACACATCCC < 41bp 1 0.763238455037512 1 0.972346663475037 experiment 0.473523089924975 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 BAG3 ENSG00000151929 CDS Human protein_coding chr10:121436059 chr10:121436068 synonymous SNV . 0 hm6A_associated_SNPs_12597 4 Benign Myofibrillar Myopathy, Dominant RCV000326542.1
1218 chr10 122630693 122630693 1 + A G rs34602786 122630707 + 122630687 122630727 41 AGTGCAATTGCTGGGGAAGAACATCCCAGAGGTTCAATTCT AGTGCAGTTGCTGGGGAAGAACATCCCAGAGGTTCAATTCT < 41bp 1 0.487076760527499 1 0.843038856983185 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 WDR11 ENSG00000120008 CDS Human protein_coding chr10:122630707 chr10:122630693 nonsynonymous SNV 0.979 1 hm6A_associated_SNPs_12603 1 Uncertain significance not specified RCV000238652.1
1219 chr10 124813359 124813359 1 + C T rs117078411 124813375 + 124813355 124813395 41 AGTGCCTTGCGTGGGAATAAACTTCCACAGCATTCGAATAT AGTGTCTTGCGTGGGAATAAACTTCCACAGCATTCGAATAT < 41bp 1 0.466524143134332 1 0.191372990608215 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 5 ACADSB ENSG00000196177 UTR3 Human protein_coding chr10:124813375 chr10:124813359 . . 0 hm6A_associated_SNPs_12620 1 Uncertain significance Deficiency of 2-methylbutyryl-CoA dehydrogenase RCV000407496.1
1220 chr10 124813390 124813390 1 + G A rs34955007 124813375 + 124813355 124813395 41 AGTGCCTTGCGTGGGAATAAACTTCCACAGCATTCGAATAT AGTGCCTTGCGTGGGAATAAACTTCCACAGCATTCAAATAT < 41bp 1 0.479959292954764 1 0.089741051197052 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 36 ACADSB ENSG00000196177 UTR3 Human protein_coding chr10:124813375 chr10:124813390 . . 0 hm6A_associated_SNPs_12621 1 Uncertain significance Deficiency of 2-methylbutyryl-CoA dehydrogenase RCV000310915.1
1221 chr10 124813543 124813543 1 + C T rs12248515 124813523 + 124813503 124813543 41 CACCTGTATTTTTTTCCAAAACTGTTTTTAAAGCTGTATAC CACCTGTATTTTTTTCCAAAACTGTTTTTAAAGCTGTATAT < 41bp 1 0.242685136302678 1 0.00613334774971008 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 41 ACADSB ENSG00000196177 UTR3 Human protein_coding chr10:124813523 chr10:124813543 . . 0 hm6A_associated_SNPs_12622 1 Benign Deficiency of 2-methylbutyryl-CoA dehydrogenase RCV000275814.1
1222 chr10 124816515 124816515 1 + C G rs3763738 124816533 + 124816513 124816553 41 CACTCTTTCAGAACAAAAAGACAGTCATCTGATAAGAGTAT CAGTCTTTCAGAACAAAAAGACAGTCATCTGATAAGAGTAT < 41bp 1 0.1782032481672 1 0.909160017967224 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 ACADSB ENSG00000196177 UTR3 Human protein_coding chr10:124816533 chr10:124816515 . . 0 hm6A_associated_SNPs_12624 1 Benign Deficiency of 2-methylbutyryl-CoA dehydrogenase RCV000311132.1
1223 chr11 763910 763910 1 + C T rs142263629 763906 + 763886 763926 41 CCTGGGAGAGCTGCTGCAGGACAACGCCAAGCTGGTGCCTG CCTGGGAGAGCTGCTGCAGGACAATGCCAAGCTGGTGCCTG < 41bp 1 0.789277289995758 1 0.945609211921692 experiment 0.421445420008484 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 TALDO1 ENSG00000177156 CDS Human protein_coding chr11:763906 chr11:763910 synonymous SNV . 0 hm6A_associated_SNPs_12733 1 Uncertain significance Deficiency of transaldolase RCV000311153.1
1224 chr11 825110 825110 1 + A G rs1138714 825113 + 825093 825133 41 CCGCCCCTTTACTCCTGAGAACTTTGCAGCTGCCCTTCCCT CCGCCCCTTTACTCCTGGGAACTTTGCAGCTGCCCTTCCCT < 41bp 1 0.546381314652627 1 0.944175660610199 experiment 0.907237370694747 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 18 PNPLA2 ENSG00000255108 ncRNA_intronic Human antisense chr11:825113 chr11:825110 . . 0 hm6A_associated_SNPs_12744 1 Benign Neutral lipid storage disease with myopathy RCV000408389.1
1225 chr11 6629665 6629665 1 + C T rs1043388 6629662 + 6629642 6629682 41 GACATCAATGCAGTGAATGAACACGGGAATGTGCCCCTGCA GACATCAATGCAGTGAATGAACATGGGAATGTGCCCCTGCA < 41bp 1 0.707763272466817 1 0.892389893531799 experiment 0.584473455066366 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 ILK ENSG00000166333 CDS Human protein_coding chr11:6629662 chr11:6629665 synonymous SNV . 0 hm6A_associated_SNPs_12780 1 Benign not specified RCV000125415.2
1226 chr11 6630542 6630542 1 + C T rs140322345 6630558 + 6630538 6630578 41 GGGCCGCTGGCAGGGCAATGACATTGTCGTGAAGGTGCTGA GGGCTGCTGGCAGGGCAATGACATTGTCGTGAAGGTGCTGA < 41bp 1 0.68815830555337 1 0.966703414916992 experiment 0.62368338889326 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 ILK ENSG00000166333 CDS Human protein_coding chr11:6630558 chr11:6630542 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_12781 2 Likely benign Primary familial hypertrophic cardiomyopathy RCV000143901.1
1227 chr11 6630542 6630542 1 + C T rs140322345 6630558 + 6630538 6630578 41 GGGCCGCTGGCAGGGCAATGACATTGTCGTGAAGGTGCTGA GGGCTGCTGGCAGGGCAATGACATTGTCGTGAAGGTGCTGA < 41bp 1 0.68815830555337 1 0.966703414916992 experiment 0.62368338889326 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 ILK ENSG00000166333 CDS Human protein_coding chr11:6630558 chr11:6630542 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_12781 2 Likely benign not specified RCV000183461.4
1228 chr11 34988343 34988343 1 + T C rs61760973 34988346 + 34988326 34988366 41 CCACCAGTATCAACTCCTGGACAACCCAATGCAGTGGTAGT CCACCAGTATCAACTCCCGGACAACCCAATGCAGTGGTAGT < 41bp 1 0.569927217280967 1 0.673630475997925 experiment 0.860145565438066 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 18 PDHX ENSG00000110435 CDS Human protein_coding chr11:34988346 chr11:34988343 synonymous SNV . 0 hm6A_associated_SNPs_12925 2 Benign not specified RCV000127416.2
1229 chr11 34988343 34988343 1 + T C rs61760973 34988346 + 34988326 34988366 41 CCACCAGTATCAACTCCTGGACAACCCAATGCAGTGGTAGT CCACCAGTATCAACTCCCGGACAACCCAATGCAGTGGTAGT < 41bp 1 0.569927217280967 1 0.673630475997925 experiment 0.860145565438066 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 18 PDHX ENSG00000110435 CDS Human protein_coding chr11:34988346 chr11:34988343 synonymous SNV . 0 hm6A_associated_SNPs_12925 2 Benign Pyruvate dehydrogenase complex deficiency RCV000408410.1
1230 chr11 34999682 34999682 1 + G C rs35560997 34999674 + 34999654 34999694 41 CCTTATTTTTCTTTCAGATGACATTAAAGTATCAGTAAATG CCTTATTTTTCTTTCAGATGACATTAAACTATCAGTAAATG < 41bp 1 0.624259366687728 1 0.0250810980796814 experiment 0.751481266624545 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 29 PDHX ENSG00000110435 CDS Human protein_coding chr11:34999674 chr11:34999682 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_12926 3 Benign not specified RCV000127418.2
1231 chr11 34999682 34999682 1 + G C rs35560997 34999674 + 34999654 34999694 41 CCTTATTTTTCTTTCAGATGACATTAAAGTATCAGTAAATG CCTTATTTTTCTTTCAGATGACATTAAACTATCAGTAAATG < 41bp 1 0.624259366687728 1 0.0250810980796814 experiment 0.751481266624545 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 29 PDHX ENSG00000110435 CDS Human protein_coding chr11:34999674 chr11:34999682 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_12926 3 Likely benign not provided RCV000224806.1
1232 chr11 34999682 34999682 1 + G C rs35560997 34999674 + 34999654 34999694 41 CCTTATTTTTCTTTCAGATGACATTAAAGTATCAGTAAATG CCTTATTTTTCTTTCAGATGACATTAAACTATCAGTAAATG < 41bp 1 0.624259366687728 1 0.0250810980796814 experiment 0.751481266624545 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 29 PDHX ENSG00000110435 CDS Human protein_coding chr11:34999674 chr11:34999682 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_12926 3 Uncertain significance Pyruvate dehydrogenase complex deficiency RCV000408415.1
1233 chr11 35016919 35016919 1 + T C rs16926653 35016921 + 35016901 35016941 41 ATAAATGATGATAAACTCTAACTAATAAAGGAAAGAGAATA ATAAATGATGATAAACTCCAACTAATAAAGGAAAGAGAATA Direct Loss 1 0.256362215284822 1 0.420533955097198 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 19 PDHX ENSG00000110435 UTR3 Human protein_coding chr11:35016921 chr11:35016919 . . 0 hm6A_associated_SNPs_12927 1 Likely benign Pyruvate dehydrogenase complex deficiency RCV000368861.1
1234 chr11 44117285 44117285 1 + G A rs115238130 44117280 + 44117260 44117300 41 CTCGCTGCTCGCCAGCCCAGACTCGGCCCTGGCAGTGGCGG CTCGCTGCTCGCCAGCCCAGACTCGACCCTGGCAGTGGCGG < 41bp 1 0.381698313914691 1 0.96007764339447 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 EXT2 ENSG00000151348 UTR5 Human protein_coding chr11:44117280 chr11:44117285 . . 0 hm6A_associated_SNPs_12958 1 Likely benign Hereditary Multiple Osteochondromatosis RCV000408028.1
1235 chr11 44265938 44265938 1 + G C rs117755165 44265942 + 44265922 44265962 41 AGGTTAAGGGTGGAAGGTTGACCTACTTGGATCTTGGCATG AGGTTAAGGGTGGAAGCTTGACCTACTTGGATCTTGGCATG < 41bp 1 0.538706362459857 1 0.937632024288177 experiment 0.922587275080286 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 17 EXT2 ENSG00000151348 UTR3 Human protein_coding chr11:44265942 chr11:44265938 . . 0 hm6A_associated_SNPs_12959 1 Likely benign Hereditary Multiple Osteochondromatosis RCV000305940.1
1236 chr11 44266309 44266309 1 + C T rs74424177 44266294 + 44266274 44266314 41 TCAATGAGTTCTTTCAGGGAACCAAACCCAGAATTCGGTGC TCAATGAGTTCTTTCAGGGAACCAAACCCAGAATTTGGTGC < 41bp 1 0.437433956326926 1 0.411285638809204 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 EXT2 ENSG00000151348 UTR3 Human protein_coding chr11:44266294 chr11:44266309 . . 0 hm6A_associated_SNPs_12960 1 Likely benign Hereditary Multiple Osteochondromatosis RCV000261648.1
1237 chr11 44266309 44266309 1 + C T rs74424177 44266324 + 44266304 44266344 41 GAATTCGGTGCAAAAGCCAAACATCTTGGTGGGATTTGATA GAATTTGGTGCAAAAGCCAAACATCTTGGTGGGATTTGATA < 41bp 1 0.60366596906541 1 0.719528317451477 experiment 0.79266806186918 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 6 EXT2 ENSG00000151348 UTR3 Human protein_coding chr11:44266324 chr11:44266309 . . 0 hm6A_associated_SNPs_12961 1 Likely benign Hereditary Multiple Osteochondromatosis RCV000261648.1
1238 chr11 45827180 45827180 1 + C T rs78455013 45827194 + 45827174 45827214 41 TGGGCTCACCCCAAAGCAGAACTTCTCAATCCATGAGGACA TGGGCTTACCCCAAAGCAGAACTTCTCAATCCATGAGGACA < 41bp 1 0.728969892433933 1 0.962045431137085 experiment 0.542060215132135 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control 7 SLC35C1 ENSG00000181830 UTR5 Human protein_coding chr11:45827194 chr11:45827180 . . 0 hm6A_associated_SNPs_12969 1 Likely benign Congenital disorder of glycosylation RCV000291573.1
1239 chr11 45827265 45827265 1 + T G rs546865255 45827246 + 45827226 45827266 41 TTTAGGCCAGCCCACATGTGACAATGGAGGGCTGCGGCTTC TTTAGGCCAGCCCACATGTGACAATGGAGGGCTGCGGCTGC < 41bp 1 0.633005286125329 1 0.956017792224884 experiment 0.733989427749341 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 SLC35C1 ENSG00000181830 UTR5 Human protein_coding chr11:45827246 chr11:45827265 . . 0 hm6A_associated_SNPs_12970 1 Uncertain significance Congenital disorder of glycosylation RCV000339573.1
1240 chr11 45832838 45832838 1 + G A rs113735964 45832833 + 45832813 45832853 41 GGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCC GGGGCTGGGAGATGAAGAAGACTCCAGAGGAGCCCAGCCCC < 41bp 1 0.72356245972425 1 0.998623967170715 experiment 0.552875080551499 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 26 SLC35C1 ENSG00000181830 CDS Human protein_coding chr11:45832833 chr11:45832838 synonymous SNV . 0 hm6A_associated_SNPs_12971 1 Likely benign not specified RCV000423319.1
1241 chr11 45832838 45832838 1 + G A rs113735964 45832858 + 45832838 45832878 41 GGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGG AGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGG < 41bp 1 0.780408337458003 1 0.998861014842987 experiment 0.439183325083995 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 1 SLC35C1 ENSG00000181830 CDS Human protein_coding chr11:45832858 chr11:45832838 synonymous SNV . 0 hm6A_associated_SNPs_12972 1 Likely benign not specified RCV000423319.1
1242 chr11 45832845 45832845 1 + C T rs145613857 45832833 + 45832813 45832853 41 GGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCC GGGGCTGGGAGATGAAGAAGACTCCGGAGGAGTCCAGCCCC < 41bp 1 0.705359858647723 1 0.998864233493805 experiment 0.589280282704554 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 33 SLC35C1 ENSG00000181830 CDS Human protein_coding chr11:45832833 chr11:45832845 nonsynonymous SNV 0.975 0 hm6A_associated_SNPs_12973 2 Likely benign not specified RCV000238714.1
1243 chr11 45832845 45832845 1 + C T rs145613857 45832833 + 45832813 45832853 41 GGGGCTGGGAGATGAAGAAGACTCCGGAGGAGCCCAGCCCC GGGGCTGGGAGATGAAGAAGACTCCGGAGGAGTCCAGCCCC < 41bp 1 0.705359858647723 1 0.998864233493805 experiment 0.589280282704554 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 33 SLC35C1 ENSG00000181830 CDS Human protein_coding chr11:45832833 chr11:45832845 nonsynonymous SNV 0.975 0 hm6A_associated_SNPs_12973 2 Uncertain significance Congenital disorder of glycosylation RCV000370296.1
1244 chr11 45832845 45832845 1 + C T rs145613857 45832858 + 45832838 45832878 41 GGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGG GGAGGAGTCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGG < 41bp 1 0.769498697901596 1 0.999096989631653 experiment 0.461002604196809 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 8 SLC35C1 ENSG00000181830 CDS Human protein_coding chr11:45832858 chr11:45832845 nonsynonymous SNV 0.975 0 hm6A_associated_SNPs_12974 2 Likely benign not specified RCV000238714.1
1245 chr11 45832845 45832845 1 + C T rs145613857 45832858 + 45832838 45832878 41 GGAGGAGCCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGG GGAGGAGTCCAGCCCCAAAGACAGCGAGAAGAGCGCCATGG < 41bp 1 0.769498697901596 1 0.999096989631653 experiment 0.461002604196809 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 8 SLC35C1 ENSG00000181830 CDS Human protein_coding chr11:45832858 chr11:45832845 nonsynonymous SNV 0.975 0 hm6A_associated_SNPs_12974 2 Uncertain significance Congenital disorder of glycosylation RCV000370296.1
1246 chr11 46749648 46749648 1 + G A rs5898 46749656 + 46749636 46749676 41 CCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATG CCTCCTGTACCCACCCTGGGACAAGAACTTCACCGAGAATG < 41bp 1 0.532743148225954 1 0.911689519882202 experiment 0.934513703548091 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 13 F2 ENSG00000180210 CDS Human protein_coding chr11:46749656 chr11:46749648 synonymous SNV . 0 hm6A_associated_SNPs_12992 3 Benign not specified RCV000247247.1
1247 chr11 46749648 46749648 1 + G A rs5898 46749656 + 46749636 46749676 41 CCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATG CCTCCTGTACCCACCCTGGGACAAGAACTTCACCGAGAATG < 41bp 1 0.532743148225954 1 0.911689519882202 experiment 0.934513703548091 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 13 F2 ENSG00000180210 CDS Human protein_coding chr11:46749656 chr11:46749648 synonymous SNV . 0 hm6A_associated_SNPs_12992 3 Uncertain significance Thrombophilia RCV000294539.1
1248 chr11 46749648 46749648 1 + G A rs5898 46749656 + 46749636 46749676 41 CCTCCTGTACCCGCCCTGGGACAAGAACTTCACCGAGAATG CCTCCTGTACCCACCCTGGGACAAGAACTTCACCGAGAATG < 41bp 1 0.532743148225954 1 0.911689519882202 experiment 0.934513703548091 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 13 F2 ENSG00000180210 CDS Human protein_coding chr11:46749656 chr11:46749648 synonymous SNV . 0 hm6A_associated_SNPs_12992 3 Uncertain significance Hereditary factor II deficiency disease RCV000351751.1
1249 chr11 46751059 46751059 1 + G A rs5900 46751070 + 46751050 46751090 41 GGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCA GGAGCGGCCAGTCTGCAAGGACTCCACCCGGATCCGCATCA < 41bp 1 0.210310675385879 1 0.434965342283249 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 10 F2 ENSG00000180210 CDS Human protein_coding chr11:46751070 chr11:46751059 synonymous SNV . 0 hm6A_associated_SNPs_12993 3 Benign not specified RCV000252009.1
1250 chr11 46751059 46751059 1 + G A rs5900 46751070 + 46751050 46751090 41 GGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCA GGAGCGGCCAGTCTGCAAGGACTCCACCCGGATCCGCATCA < 41bp 1 0.210310675385879 1 0.434965342283249 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 10 F2 ENSG00000180210 CDS Human protein_coding chr11:46751070 chr11:46751059 synonymous SNV . 0 hm6A_associated_SNPs_12993 3 Uncertain significance Hereditary factor II deficiency disease RCV000271684.1
1251 chr11 46751059 46751059 1 + G A rs5900 46751070 + 46751050 46751090 41 GGAGCGGCCGGTCTGCAAGGACTCCACCCGGATCCGCATCA GGAGCGGCCAGTCTGCAAGGACTCCACCCGGATCCGCATCA < 41bp 1 0.210310675385879 1 0.434965342283249 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 10 F2 ENSG00000180210 CDS Human protein_coding chr11:46751070 chr11:46751059 synonymous SNV . 0 hm6A_associated_SNPs_12993 3 Uncertain significance Thrombophilia RCV000359671.1
1252 chr11 46761054 46761054 1 + C T rs72550707 46761046 + 46761026 46761066 41 TATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGC TATGGTTCCCAATAAAAGTGACTCTCAGTGAGCCTCAATGC < 41bp 1 0.0820444651948941 1 0.355703830718994 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 29 F2 ENSG00000180210 UTR3 Human protein_coding chr11:46761046 chr11:46761054 . . 0 hm6A_associated_SNPs_12996 1 Uncertain significance Thrombophilia RCV000133510.2
1253 chr11 46761055 46761055 1 + G A rs1799963 46761046 + 46761026 46761066 41 TATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGC TATGGTTCCCAATAAAAGTGACTCTCAGCAAGCCTCAATGC < 41bp 1 0.0990005300237452 1 0.568024635314941 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 30 F2 ENSG00000180210 UTR3 Human protein_coding chr11:46761046 chr11:46761055 . . 0 hm6A_associated_SNPs_12997 4 Pathogenic Thrombophilia RCV000014237.19
1254 chr11 46761055 46761055 1 + G A rs1799963 46761046 + 46761026 46761066 41 TATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGC TATGGTTCCCAATAAAAGTGACTCTCAGCAAGCCTCAATGC < 41bp 1 0.0990005300237452 1 0.568024635314941 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 30 F2 ENSG00000180210 UTR3 Human protein_coding chr11:46761046 chr11:46761055 . . 0 hm6A_associated_SNPs_12997 4 other Ischemic stroke, susceptibility to RCV000014238.3
1255 chr11 46761055 46761055 1 + G A rs1799963 46761046 + 46761026 46761066 41 TATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGC TATGGTTCCCAATAAAAGTGACTCTCAGCAAGCCTCAATGC < 41bp 1 0.0990005300237452 1 0.568024635314941 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 30 F2 ENSG00000180210 UTR3 Human protein_coding chr11:46761046 chr11:46761055 . . 0 hm6A_associated_SNPs_12997 4 other Pregnancy loss, recurrent, susceptibility to, 2 RCV000022729.3
1256 chr11 46761055 46761055 1 + G A rs1799963 46761046 + 46761026 46761066 41 TATGGTTCCCAATAAAAGTGACTCTCAGCGAGCCTCAATGC TATGGTTCCCAATAAAAGTGACTCTCAGCAAGCCTCAATGC < 41bp 1 0.0990005300237452 1 0.568024635314941 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 30 F2 ENSG00000180210 UTR3 Human protein_coding chr11:46761046 chr11:46761055 . . 0 hm6A_associated_SNPs_12997 4 Pathogenic Prothrombin deficiency, congenital RCV000205022.2
1257 chr11 57428428 57428428 1 + G A rs17152015 57428436 + 57428416 57428456 41 GTACAATGAACTGAAACGGGACCTCCCCCACTTTGTACGCA GTACAATGAACTAAAACGGGACCTCCCCCACTTTGTACGCA < 41bp 1 0.795833613949093 1 0.955964684486389 experiment 0.408332772101814 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 13 CLP1 ENSG00000172409 CDS Human protein_coding chr11:57428436 chr11:57428428 synonymous SNV . 0 hm6A_associated_SNPs_13013 1 Benign not specified RCV000440252.1
1258 chr11 61131839 61131839 1 + G A rs116455434 61131820 + 61131800 61131840 41 CCAGGAGCGGTTTTCTGGGAACTGTGGGATGTGCCCTTGGG CCAGGAGCGGTTTTCTGGGAACTGTGGGATGTGCCCTTGAG < 41bp 1 0.507142551216659 1 0.779439210891724 experiment 0.985714897566683 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 TMEM138 ENSG00000149483 UTR5 Human protein_coding chr11:61131820 chr11:61131839 . . 0 hm6A_associated_SNPs_13079 2 Uncertain significance Joubert syndrome RCV000365177.1
1259 chr11 61131839 61131839 1 + G A rs116455434 61131820 + 61131800 61131840 41 CCAGGAGCGGTTTTCTGGGAACTGTGGGATGTGCCCTTGGG CCAGGAGCGGTTTTCTGGGAACTGTGGGATGTGCCCTTGAG < 41bp 1 0.507142551216659 1 0.779439210891724 experiment 0.985714897566683 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 TMEM138 ENSG00000149483 UTR5 Human protein_coding chr11:61131820 chr11:61131839 . . 0 hm6A_associated_SNPs_13079 2 Benign not specified RCV000443643.1
1260 chr11 61213592 61213592 1 + A G rs549312009 61213589 + 61213569 61213609 41 GGTTCAGTCTGTGGATGGTAACTACTTATGATGGACGTTAG GGTTCAGTCTGTGGATGGTAACTGCTTATGATGGACGTTAG < 41bp 1 0.776428235340114 1 0.888348817825317 experiment 0.447143529319773 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 SDHAF2 ENSG00000167985;ENSG00000256591 UTR3 Human other chr11:61213589 chr11:61213592 . . 0 hm6A_associated_SNPs_13080 1 Likely benign Pheochromocytoma RCV000282634.1
1261 chr11 61731810 61731810 1 + T C rs1801327 61731816 + 61731796 61731836 41 GCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGA GCTAGACTGAACCACTGGAAACATTTAACTCAGACTCTGGA < 41bp 1 0.128869300593992 1 0.943424940109253 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 15 BEST1;FTH1 ENSG00000167995;ENSG00000167996 UTR3 Human other chr11:61731816 chr11:61731810 . . 0 hm6A_associated_SNPs_13090 4 Likely benign Vitreoretinochoroidopathy RCV000295412.1
1262 chr11 61731810 61731810 1 + T C rs1801327 61731816 + 61731796 61731836 41 GCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGA GCTAGACTGAACCACTGGAAACATTTAACTCAGACTCTGGA < 41bp 1 0.128869300593992 1 0.943424940109253 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 15 BEST1;FTH1 ENSG00000167995;ENSG00000167996 UTR3 Human other chr11:61731816 chr11:61731810 . . 0 hm6A_associated_SNPs_13090 4 Likely benign Iron Overload RCV000299300.1
1263 chr11 61731810 61731810 1 + T C rs1801327 61731816 + 61731796 61731836 41 GCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGA GCTAGACTGAACCACTGGAAACATTTAACTCAGACTCTGGA < 41bp 1 0.128869300593992 1 0.943424940109253 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 15 BEST1;FTH1 ENSG00000167995;ENSG00000167996 UTR3 Human other chr11:61731816 chr11:61731810 . . 0 hm6A_associated_SNPs_13090 4 Likely benign Vitelliform macular dystrophy type 2 RCV000350392.1
1264 chr11 61731810 61731810 1 + T C rs1801327 61731816 + 61731796 61731836 41 GCTAGACTGAACCATTGGAAACATTTAACTCAGACTCTGGA GCTAGACTGAACCACTGGAAACATTTAACTCAGACTCTGGA < 41bp 1 0.128869300593992 1 0.943424940109253 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 15 BEST1;FTH1 ENSG00000167995;ENSG00000167996 UTR3 Human other chr11:61731816 chr11:61731810 . . 0 hm6A_associated_SNPs_13090 4 Likely benign Retinitis Pigmentosa, Recessive RCV000400061.1
1265 chr11 67379016 67379016 1 + T C rs11227859 67378999 + 67378979 67379019 41 ATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCG ATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCCGCG < 41bp 1 0.630523192050905 1 0.87269651889801 experiment 0.738953615898189 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 38 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378999 chr11:67379016 synonymous SNV . 0 hm6A_associated_SNPs_13308 3 Benign not specified RCV000127167.1
1266 chr11 67379016 67379016 1 + T C rs11227859 67378999 + 67378979 67379019 41 ATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCG ATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCCGCG < 41bp 1 0.630523192050905 1 0.87269651889801 experiment 0.738953615898189 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 38 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378999 chr11:67379016 synonymous SNV . 0 hm6A_associated_SNPs_13308 3 Likely benign Leigh syndrome RCV000305888.1
1267 chr11 67379016 67379016 1 + T C rs11227859 67378999 + 67378979 67379019 41 ATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCTGCG ATGCGCTGGTGCAGGCACAGACAGGCCTGGGCACAGCCGCG < 41bp 1 0.630523192050905 1 0.87269651889801 experiment 0.738953615898189 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 38 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378999 chr11:67379016 synonymous SNV . 0 hm6A_associated_SNPs_13308 3 Likely benign Mitochondrial complex I deficiency RCV000358134.1
1268 chr11 67798156 67798156 1 + A C rs4147776 67798160 + 67798140 67798180 41 TAGCCTCCGCCTCCCGATTGACTGGCCTGCTTGGCAAGGCA TAGCCTCCGCCTCCCGCTTGACTGGCCTGCTTGGCAAGGCA < 41bp 1 0.356644815177228 1 0.946947753429413 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 NDUFS8 ENSG00000110717 UTR5 Human protein_coding chr11:67798160 chr11:67798156 . . 0 hm6A_associated_SNPs_13315 1 Benign not specified RCV000127164.1
1269 chr11 67804100 67804100 1 + A G rs61329983 67804097 + 67804077 67804117 41 AGCCCCTGCTGCCCAATAAAACCACTCCGACCCCACGGCCT AGCCCCTGCTGCCCAATAAAACCGCTCCGACCCCACGGCCT < 41bp 1 0.212105220223883 1 0.97550094127655 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 24 NDUFS8 ENSG00000110717 UTR3 Human protein_coding chr11:67804097 chr11:67804100 . . 0 hm6A_associated_SNPs_13317 3 Uncertain significance Leigh syndrome RCV000346629.1
1270 chr11 67804100 67804100 1 + A G rs61329983 67804097 + 67804077 67804117 41 AGCCCCTGCTGCCCAATAAAACCACTCCGACCCCACGGCCT AGCCCCTGCTGCCCAATAAAACCGCTCCGACCCCACGGCCT < 41bp 1 0.212105220223883 1 0.97550094127655 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 24 NDUFS8 ENSG00000110717 UTR3 Human protein_coding chr11:67804097 chr11:67804100 . . 0 hm6A_associated_SNPs_13317 3 Likely benign Osteopetrosis RCV000370635.1
1271 chr11 67804100 67804100 1 + A G rs61329983 67804097 + 67804077 67804117 41 AGCCCCTGCTGCCCAATAAAACCACTCCGACCCCACGGCCT AGCCCCTGCTGCCCAATAAAACCGCTCCGACCCCACGGCCT < 41bp 1 0.212105220223883 1 0.97550094127655 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 24 NDUFS8 ENSG00000110717 UTR3 Human protein_coding chr11:67804097 chr11:67804100 . . 0 hm6A_associated_SNPs_13317 3 Uncertain significance Mitochondrial complex I deficiency RCV000399461.1
1272 chr11 68115489 68115489 1 + A G rs41494349 68115491 + 68115471 68115511 41 GCGAGGAGGCCATCAAGCAGACCTACCTGAACCAGACGGGG GCGAGGAGGCCATCAAGCGGACCTACCTGAACCAGACGGGG < 41bp 1 0.0949556968162842 1 0.997113108634949 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 19 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68115491 chr11:68115489 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_13320 1 Benign not specified RCV000175719.2
1273 chr11 68171013 68171013 1 + T C rs545382 68170994 + 68170974 68171014 41 GAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTTG GAGGCGGACCCTCCTGGAGGACAAGCTCCCGCACATTTTCG < 41bp 1 0.718513431022149 1 0.854635715484619 experiment 0.562973137955702 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 40 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68170994 chr11:68171013 synonymous SNV . 0 hm6A_associated_SNPs_13323 1 Benign not specified RCV000253993.1
1274 chr11 68171013 68171013 1 + T C rs545382 68171033 + 68171013 68171053 41 TGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACT CGGGTTCACGCTGCTGGGGGACTTCATCTACTGGACTGACT < 41bp 1 0.414608178666745 1 0.979990541934967 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68171033 chr11:68171013 synonymous SNV . 0 hm6A_associated_SNPs_13324 1 Benign not specified RCV000253993.1
1275 chr11 68174008 68174008 1 + G A rs148603249 68174010 + 68173990 68174030 41 AGGAACCAACCCGTGTGCGGACAGGAACGGGGGGTGCAGCC AGGAACCAACCCGTGTGCAGACAGGAACGGGGGGTGCAGCC < 41bp 1 0.174983484239418 1 0.950205981731415 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 19 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68174010 chr11:68174008 synonymous SNV . 0 hm6A_associated_SNPs_13325 1 Uncertain significance not specified RCV000259410.1
1276 chr11 68174189 68174189 1 + G A rs4988321 68174181 + 68174161 68174201 41 GATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGC GATCTCCCTCGAGACCAATAACAACGACATGGCCATCCCGC < 41bp 1 0.479589235284613 1 0.997991442680359 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68174181 chr11:68174189 nonsynonymous SNV 0.978 3 hm6A_associated_SNPs_13326 3 Pathogenic Osteoporosis with pseudoglioma RCV000006654.7
1277 chr11 68174189 68174189 1 + G A rs4988321 68174181 + 68174161 68174201 41 GATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGC GATCTCCCTCGAGACCAATAACAACGACATGGCCATCCCGC < 41bp 1 0.479589235284613 1 0.997991442680359 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68174181 chr11:68174189 nonsynonymous SNV 0.978 3 hm6A_associated_SNPs_13326 3 not provided not provided RCV000086953.1
1278 chr11 68174189 68174189 1 + G A rs4988321 68174181 + 68174161 68174201 41 GATCTCCCTCGAGACCAATAACAACGACGTGGCCATCCCGC GATCTCCCTCGAGACCAATAACAACGACATGGCCATCCCGC < 41bp 1 0.479589235284613 1 0.997991442680359 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68174181 chr11:68174189 nonsynonymous SNV 0.978 3 hm6A_associated_SNPs_13326 3 Likely benign not specified RCV000250939.1
1279 chr11 68177585 68177585 1 + G A rs140955013 68177572 + 68177552 68177592 41 CCTCGTGTGGAGGGACTTGGACAACCCGAGGTCGCTGGCCC CCTCGTGTGGAGGGACTTGGACAACCCGAGGTCACTGGCCC < 41bp 1 0.672901270574773 1 0.965882301330566 experiment 0.654197458850454 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 LRP5 ENSG00000162337 CDS Human protein_coding chr11:68177572 chr11:68177585 synonymous SNV . 0 hm6A_associated_SNPs_13328 1 Benign not specified RCV000173755.1
1280 chr11 68703887 68703887 1 + G A rs77822399 68703897 + 68703877 68703917 41 TGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCC TGACGATATTATCCCAGAAAACTATTCCCATGAGAACTCCC < 41bp 1 0.742766193254271 1 0.994992852210999 experiment 0.514467613491458 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 11 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68703897 chr11:68703887 nonsynonymous SNV 0.978 1 hm6A_associated_SNPs_13351 2 Benign not specified RCV000250041.1
1281 chr11 68703887 68703887 1 + G A rs77822399 68703897 + 68703877 68703917 41 TGACGATATTGTCCCAGAAAACTATTCCCATGAGAACTCCC TGACGATATTATCCCAGAAAACTATTCCCATGAGAACTCCC < 41bp 1 0.742766193254271 1 0.994992852210999 experiment 0.514467613491458 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 11 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68703897 chr11:68703887 nonsynonymous SNV 0.978 1 hm6A_associated_SNPs_13351 2 Uncertain significance Spinal muscular atrophy RCV000318937.1
1282 chr11 68703959 68703959 1 + A G rs622082 68703952 + 68703932 68703972 41 GCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGAC GCTGCCACCAAGCCCCAGGGACCTGCTGCGTCCACCAGGAC < 41bp 1 0.628321199709039 1 0.991934537887573 experiment 0.743357600581921 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 28 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68703952 chr11:68703959 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_13352 2 Benign not specified RCV000241691.1
1283 chr11 68703959 68703959 1 + A G rs622082 68703952 + 68703932 68703972 41 GCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGAC GCTGCCACCAAGCCCCAGGGACCTGCTGCGTCCACCAGGAC < 41bp 1 0.628321199709039 1 0.991934537887573 experiment 0.743357600581921 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 28 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68703952 chr11:68703959 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_13352 2 Benign Spinal muscular atrophy RCV000375910.1
1284 chr11 68703970 68703970 1 + G A rs111366439 68703952 + 68703932 68703972 41 GCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGGAC GCTGCCACCAAGCCCCAGGGACCTGCTACGTCCACCAGAAC < 41bp 1 0.646649125212351 1 0.992942214012146 experiment 0.706701749575299 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 39 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68703952 chr11:68703970 synonymous SNV . 0 hm6A_associated_SNPs_13353 1 Likely benign not specified RCV000422172.1
1285 chr11 68705674 68705674 1 + C A rs17612126 68705683 + 68705663 68705703 41 AGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTG AGATCTGCCCAAGGAGGAGGACTTTGAGGCCCTGGTTTCTG < 41bp 1 0.294148486652826 1 0.971364498138428 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 12 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68705683 chr11:68705674 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_13354 2 Benign not specified RCV000174725.2
1286 chr11 68705674 68705674 1 + C A rs17612126 68705683 + 68705663 68705703 41 AGATCTGCCCACGGAGGAGGACTTTGAGGCCCTGGTTTCTG AGATCTGCCCAAGGAGGAGGACTTTGAGGCCCTGGTTTCTG < 41bp 1 0.294148486652826 1 0.971364498138428 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 12 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68705683 chr11:68705674 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_13354 2 Benign Spinal muscular atrophy RCV000262208.1
1287 chr11 68707454 68707454 1 + T C rs564244 68707468 + 68707448 68707488 41 TCCCCTTACTCCCCGCCAAAACCCACATCCCAGCCTCTGGA TCCCCTCACTCCCCGCCAAAACCCACATCCCAGCCTCTGGA < 41bp 1 0.426751935760048 1 0.711200058460236 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 IGHMBP2 ENSG00000132740 UTR3 Human protein_coding chr11:68707468 chr11:68707454 . . 0 hm6A_associated_SNPs_13355 1 Benign Spinal muscular atrophy RCV000303046.1
1288 chr11 68707616 68707616 1 + C A rs117542830 68707603 + 68707583 68707623 41 GATGAGGGTGCTGAGAGGAAACAGGAAACAAGACTGCGAAT GATGAGGGTGCTGAGAGGAAACAGGAAACAAGAATGCGAAT < 41bp 1 0.413712763996625 1 0.859908699989319 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 34 IGHMBP2 ENSG00000132740 UTR3 Human protein_coding chr11:68707603 chr11:68707616 . . 0 hm6A_associated_SNPs_13357 1 Uncertain significance Spinal muscular atrophy RCV000267930.1
1289 chr11 68707616 68707616 1 + C A rs117542830 68707610 + 68707590 68707630 41 GTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTC GTGCTGAGAGGAAACAGGAAACAAGAATGCGAATGGCGCTC < 41bp 1 0.563372399742516 1 0.821924090385437 experiment 0.873255200514967 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 27 IGHMBP2 ENSG00000132740 UTR3 Human protein_coding chr11:68707610 chr11:68707616 . . 0 hm6A_associated_SNPs_13358 1 Uncertain significance Spinal muscular atrophy RCV000267930.1
1290 chr11 68707616 68707616 1 + C A rs117542830 68707615 + 68707595 68707635 41 GAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTCAGGCA GAGAGGAAACAGGAAACAAGAATGCGAATGGCGCTCAGGCA Direct Loss 1 0.675254142799015 1 0.811610519886017 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 22 IGHMBP2 ENSG00000132740 UTR3 Human protein_coding chr11:68707615 chr11:68707616 . . 0 hm6A_associated_SNPs_13359 1 Uncertain significance Spinal muscular atrophy RCV000267930.1
1291 chr11 68707626 68707626 1 + C T rs3750980 68707610 + 68707590 68707630 41 GTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTC GTGCTGAGAGGAAACAGGAAACAAGACTGCGAATGGTGCTC < 41bp 1 0.566102577796407 1 0.896618843078613 experiment 0.867794844407186 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 37 IGHMBP2 ENSG00000132740 UTR3 Human protein_coding chr11:68707610 chr11:68707626 . . 0 hm6A_associated_SNPs_13360 1 Benign Spinal muscular atrophy RCV000382495.1
1292 chr11 68707626 68707626 1 + C T rs3750980 68707615 + 68707595 68707635 41 GAGAGGAAACAGGAAACAAGACTGCGAATGGCGCTCAGGCA GAGAGGAAACAGGAAACAAGACTGCGAATGGTGCTCAGGCA < 41bp 1 0.652480156316914 1 0.935907483100891 experiment 0.695039687366172 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 IGHMBP2 ENSG00000132740 UTR3 Human protein_coding chr11:68707615 chr11:68707626 . . 0 hm6A_associated_SNPs_13361 1 Benign Spinal muscular atrophy RCV000382495.1
1293 chr11 71791491 71791491 1 + C A rs185830107 71791500 - 71791480 71791520 41 CGGGAGCGCGCAGCCAGGTAACCGGCGCGGGCCCGCGTTTG CGGGAGCGCGCAGCCAGGTAACCGGCGCGTGCCCGCGTTTG < 41bp 1 0.0231666615335175 1 0.101723551750183 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 30 LRTOMT ENSG00000137497;ENSG00000184154 UTR5 Human other chr11:71791500 chr11:71791491 . . 0 hm6A_associated_SNPs_13397 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000401305.1
1294 chr11 71791510 71791510 1 + G A rs114912925 71791500 - 71791480 71791520 41 CGGGAGCGCGCAGCCAGGTAACCGGCGCGGGCCCGCGTTTG CGGGAGCGCGTAGCCAGGTAACCGGCGCGGGCCCGCGTTTG < 41bp 1 0.0220100668134256 1 0.108979552984238 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 11 LRTOMT;NUMA1 ENSG00000137497;ENSG00000184154 UTR5 Human other chr11:71791500 chr11:71791510 . . 0 hm6A_associated_SNPs_13398 1 Uncertain significance Nonsyndromic Hearing Loss, Recessive RCV000309180.1
1295 chr11 71821236 71821236 1 + A G rs17161980 71821216 - 71821196 71821236 41 TGATGAGGATAGTGAAGAGGACTCAGAGGATGATGAGGATA CGATGAGGATAGTGAAGAGGACTCAGAGGATGATGAGGATA < 41bp 1 0.62688043615217 1 0.988481223583221 experiment 0.74623912769566 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 1 ANAPC15 ENSG00000110200 CDS Human protein_coding chr11:71821216 chr11:71821236 synonymous SNV . 0 hm6A_associated_SNPs_13399 1 Likely benign Nonsyndromic Hearing Loss, Recessive RCV000325528.1
1296 chr11 75283253 75283253 1 + A G rs9175 75283257 + 75283237 75283277 41 GGGTGGGGGTGGAAAAACAGACCGGGGTTCCCGTGTGCCTG GGGTGGGGGTGGAAAAGCAGACCGGGGTTCCCGTGTGCCTG < 41bp 1 0.495751811765233 1 0.630754470825195 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 17 SERPINH1 ENSG00000149257 UTR3 Human protein_coding chr11:75283257 chr11:75283253 . . 0 hm6A_associated_SNPs_13432 1 Benign Osteogenesis Imperfecta, Recessive RCV000342722.1
1297 chr11 75283653 75283653 1 + C A rs6704 75283656 + 75283636 75283676 41 CAGGAGGGGCTTCTGGGCAGACTCTGGTCAAGAAGCATCGT CAGGAGGGGCTTCTGGGAAGACTCTGGTCAAGAAGCATCGT < 41bp 1 0.657253715478397 1 0.955296635627747 experiment 0.685492569043207 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 18 SERPINH1 ENSG00000149257 UTR3 Human protein_coding chr11:75283656 chr11:75283653 . . 0 hm6A_associated_SNPs_13438 1 Benign Osteogenesis Imperfecta, Recessive RCV000367363.1
1298 chr11 75283659 75283659 1 + C G rs374355309 75283656 + 75283636 75283676 41 CAGGAGGGGCTTCTGGGCAGACTCTGGTCAAGAAGCATCGT CAGGAGGGGCTTCTGGGCAGACTGTGGTCAAGAAGCATCGT < 41bp 1 0.709392114304186 1 0.957329630851746 experiment 0.581215771391627 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 24 SERPINH1 ENSG00000149257 UTR3 Human protein_coding chr11:75283656 chr11:75283659 . . 0 hm6A_associated_SNPs_13439 1 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000275026.1
1299 chr11 76917220 76917220 1 + A G rs2276293 76917237 + 76917217 76917257 41 CAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA CAAGGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA < 41bp 1 0.176787262400668 1 0.758544147014618 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 MYO7A ENSG00000137474 CDS Human protein_coding chr11:76917237 chr11:76917220 synonymous SNV . 0 hm6A_associated_SNPs_13453 4 Benign not specified RCV000036201.3
1300 chr11 76917220 76917220 1 + A G rs2276293 76917237 + 76917217 76917257 41 CAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA CAAGGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA < 41bp 1 0.176787262400668 1 0.758544147014618 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 MYO7A ENSG00000137474 CDS Human protein_coding chr11:76917237 chr11:76917220 synonymous SNV . 0 hm6A_associated_SNPs_13453 4 Benign Retinitis pigmentosa-deafness syndrome RCV000266939.1
1301 chr11 76917220 76917220 1 + A G rs2276293 76917237 + 76917217 76917257 41 CAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA CAAGGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA < 41bp 1 0.176787262400668 1 0.758544147014618 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 MYO7A ENSG00000137474 CDS Human protein_coding chr11:76917237 chr11:76917220 synonymous SNV . 0 hm6A_associated_SNPs_13453 4 Benign Nonsyndromic Hearing Loss, Dominant RCV000326880.1
1302 chr11 76917220 76917220 1 + A G rs2276293 76917237 + 76917217 76917257 41 CAAAGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA CAAGGTCTACTTCCCTGATGACACTGACGAGGTGAGGGTCA < 41bp 1 0.176787262400668 1 0.758544147014618 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 MYO7A ENSG00000137474 CDS Human protein_coding chr11:76917237 chr11:76917220 synonymous SNV . 0 hm6A_associated_SNPs_13453 4 Benign Nonsyndromic Hearing Loss, Recessive RCV000361573.1
1303 chr11 85366671 85366671 1 + G A rs146573578 85366667 + 85366647 85366687 41 ATTGTGAAACCTGTACCATAACACGGAGTGGACTGACTGGT ATTGTGAAACCTGTACCATAACACAGAGTGGACTGACTGGT < 41bp 1 0.580070114243325 1 0.316444426774979 experiment 0.839859771513351 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 TMEM126A ENSG00000171202 CDS Human protein_coding chr11:85366667 chr11:85366671 nonsynonymous SNV 0.257 3 hm6A_associated_SNPs_13475 1 Uncertain significance not specified RCV000197122.4
1304 chr11 103022930 103022930 1 + T C rs202082545 103022913 + 103022893 103022933 41 ACAAAAACAGACTTTTACGAACTGTGGCTGGTGGAGGTTTA ACAAAAACAGACTTTTACGAACTGTGGCTGGTGGAGGCTTA < 41bp 1 0.118354758850187 1 0.967726230621338 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103022913 chr11:103022930 synonymous SNV . 0 hm6A_associated_SNPs_13558 2 Uncertain significance Short Rib Polydactyly Syndrome RCV000260715.1
1305 chr11 103022930 103022930 1 + T C rs202082545 103022913 + 103022893 103022933 41 ACAAAAACAGACTTTTACGAACTGTGGCTGGTGGAGGTTTA ACAAAAACAGACTTTTACGAACTGTGGCTGGTGGAGGCTTA < 41bp 1 0.118354758850187 1 0.967726230621338 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103022913 chr11:103022930 synonymous SNV . 0 hm6A_associated_SNPs_13558 2 other Jeune thoracic dystrophy RCV000371754.1
1306 chr11 103022933 103022933 1 + A G rs201310509 103022913 + 103022893 103022933 41 ACAAAAACAGACTTTTACGAACTGTGGCTGGTGGAGGTTTA ACAAAAACAGACTTTTACGAACTGTGGCTGGTGGAGGTTTG < 41bp 1 0.112627171083979 1 0.970598161220551 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 41 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103022913 chr11:103022933 synonymous SNV . 0 hm6A_associated_SNPs_13559 1 Likely benign not specified RCV000176169.1
1307 chr11 103027234 103027234 1 + A G rs17301750 103027220 + 103027200 103027240 41 TACATTAATTGATTATGAAGACAGCCAAAGTCGAACTATGA TACATTAATTGATTATGAAGACAGCCAAAGTCGAGCTATGA < 41bp 1 0.231608806949625 1 0.95208215713501 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027220 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_13560 3 Likely benign Short Rib Polydactyly Syndrome RCV000275553.1
1308 chr11 103027234 103027234 1 + A G rs17301750 103027220 + 103027200 103027240 41 TACATTAATTGATTATGAAGACAGCCAAAGTCGAACTATGA TACATTAATTGATTATGAAGACAGCCAAAGTCGAGCTATGA < 41bp 1 0.231608806949625 1 0.95208215713501 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027220 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_13560 3 Likely benign Jeune thoracic dystrophy RCV000367404.1
1309 chr11 103027234 103027234 1 + A G rs17301750 103027220 + 103027200 103027240 41 TACATTAATTGATTATGAAGACAGCCAAAGTCGAACTATGA TACATTAATTGATTATGAAGACAGCCAAAGTCGAGCTATGA < 41bp 1 0.231608806949625 1 0.95208215713501 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027220 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_13560 3 Benign not specified RCV000438886.1
1310 chr11 103027234 103027234 1 + A G rs17301750 103027253 + 103027233 103027273 41 AACTATGAAGCTGATTAAAGACTGGAAAGATATAGTAAATC AGCTATGAAGCTGATTAAAGACTGGAAAGATATAGTAAATC < 41bp 1 0.0640669171642387 1 0.977796137332916 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 2 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027253 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_13561 3 Likely benign Short Rib Polydactyly Syndrome RCV000275553.1
1311 chr11 103027234 103027234 1 + A G rs17301750 103027253 + 103027233 103027273 41 AACTATGAAGCTGATTAAAGACTGGAAAGATATAGTAAATC AGCTATGAAGCTGATTAAAGACTGGAAAGATATAGTAAATC < 41bp 1 0.0640669171642387 1 0.977796137332916 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 2 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027253 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_13561 3 Likely benign Jeune thoracic dystrophy RCV000367404.1
1312 chr11 103027234 103027234 1 + A G rs17301750 103027253 + 103027233 103027273 41 AACTATGAAGCTGATTAAAGACTGGAAAGATATAGTAAATC AGCTATGAAGCTGATTAAAGACTGGAAAGATATAGTAAATC < 41bp 1 0.0640669171642387 1 0.977796137332916 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 2 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103027253 chr11:103027234 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_13561 3 Benign not specified RCV000438886.1
1313 chr11 103048503 103048503 1 + T G rs372641908 103048484 + 103048464 103048504 41 ATTAGGCCATATTGACATGGACACAAGAGAATGGTCTGATG ATTAGGCCATATTGACATGGACACAAGAGAATGGTCTGAGG < 41bp 1 0.436377894126378 1 0.423070907592773 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103048484 chr11:103048503 nonsynonymous SNV 0.993 3 hm6A_associated_SNPs_13563 1 Uncertain significance not specified RCV000377802.1
1314 chr11 103048503 103048503 1 + T G rs372641908 103048513 + 103048493 103048533 41 AATGGTCTGATGGTGTTTTGACAAATAGTGCTCGTCAAGTG AATGGTCTGAGGGTGTTTTGACAAATAGTGCTCGTCAAGTG < 41bp 1 0.274518524387827 1 0.0281544327735901 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 11 DYNC2H1 ENSG00000187240 CDS Human protein_coding chr11:103048513 chr11:103048503 nonsynonymous SNV 0.993 3 hm6A_associated_SNPs_13564 1 Uncertain significance not specified RCV000377802.1
1315 chr11 108098561 108098561 1 + A G rs150143957 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGGTCGG < 41bp 1 0.709330155561078 1 0.492480158805847 experiment 0.581339688877844 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 37 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098561 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_13571 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000166071.2
1316 chr11 108098561 108098561 1 + A G rs150143957 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGGTCGG < 41bp 1 0.709330155561078 1 0.492480158805847 experiment 0.581339688877844 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 37 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098561 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_13571 3 Uncertain significance Ataxia-telangiectasia syndrome RCV000197254.4
1317 chr11 108098561 108098561 1 + A G rs150143957 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGGTCGG < 41bp 1 0.709330155561078 1 0.492480158805847 experiment 0.581339688877844 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 37 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098561 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_13571 3 Uncertain significance not specified RCV000216438.2
1318 chr11 108119770 108119770 1 + C G rs1800727 108119764 + 108119744 108119784 41 TGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAA TGCAAAAGGAAGAAAATAGAACTAGGGTGGGAAGTAATAAA < 41bp 1 0.359704833006107 1 0.227695971727371 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 27 ATM ENSG00000149311 CDS Human protein_coding chr11:108119764 chr11:108119770 synonymous SNV . 0 hm6A_associated_SNPs_13572 3 Benign Hereditary cancer-predisposing syndrome RCV000130991.2
1319 chr11 108119770 108119770 1 + C G rs1800727 108119764 + 108119744 108119784 41 TGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAA TGCAAAAGGAAGAAAATAGAACTAGGGTGGGAAGTAATAAA < 41bp 1 0.359704833006107 1 0.227695971727371 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 27 ATM ENSG00000149311 CDS Human protein_coding chr11:108119764 chr11:108119770 synonymous SNV . 0 hm6A_associated_SNPs_13572 3 Benign not specified RCV000247410.1
1320 chr11 108119770 108119770 1 + C G rs1800727 108119764 + 108119744 108119784 41 TGCAAAAGGAAGAAAATAGAACTAGGCTGGGAAGTAATAAA TGCAAAAGGAAGAAAATAGAACTAGGGTGGGAAGTAATAAA < 41bp 1 0.359704833006107 1 0.227695971727371 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 27 ATM ENSG00000149311 CDS Human protein_coding chr11:108119764 chr11:108119770 synonymous SNV . 0 hm6A_associated_SNPs_13572 3 other Ataxia-telangiectasia syndrome RCV000386773.1
1321 chr11 108128246 108128246 1 + T A rs34231402 108128256 + 108128236 108128276 41 TCACTCTGTTTAAAAATAAGACAAATGAGGAATTCAGAATT TCACTCTGTTAAAAAATAAGACAAATGAGGAATTCAGAATT < 41bp 1 0.668616817154992 1 0.0218890607357025 experiment 0.662766365690017 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 ATM ENSG00000149311 CDS Human protein_coding chr11:108128256 chr11:108128246 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_13573 3 Likely benign Hereditary cancer-predisposing syndrome RCV000115152.6
1322 chr11 108128246 108128246 1 + T A rs34231402 108128256 + 108128236 108128276 41 TCACTCTGTTTAAAAATAAGACAAATGAGGAATTCAGAATT TCACTCTGTTAAAAAATAAGACAAATGAGGAATTCAGAATT < 41bp 1 0.668616817154992 1 0.0218890607357025 experiment 0.662766365690017 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 ATM ENSG00000149311 CDS Human protein_coding chr11:108128256 chr11:108128246 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_13573 3 Likely benign Ataxia-telangiectasia syndrome RCV000122834.6
1323 chr11 108128246 108128246 1 + T A rs34231402 108128256 + 108128236 108128276 41 TCACTCTGTTTAAAAATAAGACAAATGAGGAATTCAGAATT TCACTCTGTTAAAAAATAAGACAAATGAGGAATTCAGAATT < 41bp 1 0.668616817154992 1 0.0218890607357025 experiment 0.662766365690017 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 ATM ENSG00000149311 CDS Human protein_coding chr11:108128256 chr11:108128246 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_13573 3 Uncertain significance not specified RCV000211979.3
1324 chr11 108139183 108139183 1 + A G rs3218687 108139194 + 108139174 108139214 41 GCAAGATCTACTTTTCTTAGACATGCTCAAGTTCTTGTGTT GCAAGATCTGCTTTTCTTAGACATGCTCAAGTTCTTGTGTT < 41bp 1 0.71250438168848 1 0.0698504447937012 experiment 0.574991236623039 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 10 ATM ENSG00000149311 CDS Human protein_coding chr11:108139194 chr11:108139183 synonymous SNV . 0 hm6A_associated_SNPs_13574 2 Benign Hereditary cancer-predisposing syndrome RCV000128898.2
1325 chr11 108139183 108139183 1 + A G rs3218687 108139194 + 108139174 108139214 41 GCAAGATCTACTTTTCTTAGACATGCTCAAGTTCTTGTGTT GCAAGATCTGCTTTTCTTAGACATGCTCAAGTTCTTGTGTT < 41bp 1 0.71250438168848 1 0.0698504447937012 experiment 0.574991236623039 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 10 ATM ENSG00000149311 CDS Human protein_coding chr11:108139194 chr11:108139183 synonymous SNV . 0 hm6A_associated_SNPs_13574 2 other Ataxia-telangiectasia syndrome RCV000205569.4
1326 chr11 108236919 108236919 1 + T G rs3092837 108236900 + 108236880 108236920 41 TTTTTTAAGTGTGTATTAAAACTTCTCATTCTATTCTCTTT TTTTTTAAGTGTGTATTAAAACTTCTCATTCTATTCTCTGT < 41bp 1 0.0679780056662677 1 0.0214108228683472 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 40 ATM ENSG00000149311 UTR3 Human protein_coding chr11:108236900 chr11:108236919 . . 0 hm6A_associated_SNPs_13576 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000386831.1
1327 chr11 111896242 111896242 1 + G A rs150145390 111896247 + 111896227 111896267 41 AATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGC AATGTAGCCCCATGGACGGGACTCGAGGCTCGGTGGACGGC < 41bp 1 0.276583737943181 1 0.97051864862442 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 DLAT ENSG00000150768 CDS Human protein_coding chr11:111896247 chr11:111896242 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_13600 2 Benign not specified RCV000124680.1
1328 chr11 111896242 111896242 1 + G A rs150145390 111896247 + 111896227 111896267 41 AATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGC AATGTAGCCCCATGGACGGGACTCGAGGCTCGGTGGACGGC < 41bp 1 0.276583737943181 1 0.97051864862442 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 DLAT ENSG00000150768 CDS Human protein_coding chr11:111896247 chr11:111896242 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_13600 2 Likely benign Pyruvate dehydrogenase complex deficiency RCV000302649.1
1329 chr11 111896251 111896251 1 + G C rs61757217 111896247 + 111896227 111896267 41 AATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGC AATGTAGCCCCATGGGCGGGACTCCAGGCTCGGTGGACGGC < 41bp 1 0.251677343960251 1 0.926775097846985 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 25 DLAT ENSG00000150768 CDS Human protein_coding chr11:111896247 chr11:111896251 nonsynonymous SNV 0.108 0 hm6A_associated_SNPs_13601 2 Benign not specified RCV000124681.1
1330 chr11 111896251 111896251 1 + G C rs61757217 111896247 + 111896227 111896267 41 AATGTAGCCCCATGGGCGGGACTCGAGGCTCGGTGGACGGC AATGTAGCCCCATGGGCGGGACTCCAGGCTCGGTGGACGGC < 41bp 1 0.251677343960251 1 0.926775097846985 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 25 DLAT ENSG00000150768 CDS Human protein_coding chr11:111896247 chr11:111896251 nonsynonymous SNV 0.108 0 hm6A_associated_SNPs_13601 2 Uncertain significance Pyruvate dehydrogenase complex deficiency RCV000356983.1
1331 chr11 111904221 111904221 1 + C T rs139194443 111904240 + 111904220 111904260 41 ACTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTGAGA ATTGGCAGAGATAGAAACTGACAAAGCCACTATAGGTGAGA < 41bp 1 0.616222256635057 1 0.00302726030349731 experiment 0.767555486729886 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 2 DLAT ENSG00000150768 CDS Human protein_coding chr11:111904240 chr11:111904221 synonymous SNV . 0 hm6A_associated_SNPs_13604 1 Likely benign not specified RCV000432572.1
1332 chr11 111965880 111965880 1 + A G rs183918321 111965890 + 111965870 111965910 41 AATTATATCTAAGTTGTGAGACTGAGTTCTATATTCTGGTG AATTATATCTGAGTTGTGAGACTGAGTTCTATATTCTGGTG < 41bp 1 0.423630365454359 1 0.0757185816764832 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 SDHD ENSG00000204370 UTR3 Human protein_coding chr11:111965890 chr11:111965880 . . 0 hm6A_associated_SNPs_13610 1 Likely benign Pheochromocytoma RCV000263895.1
1333 chr11 111965954 111965954 1 + T A rs149570245 111965956 + 111965936 111965976 41 CTTATAAGACTCACAGTATAACTAAACATGATATATCAGCT CTTATAAGACTCACAGTAAAACTAAACATGATATATCAGCT < 41bp 1 0.269781902503568 1 0.0367730557918549 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 19 SDHD ENSG00000204370 UTR3 Human protein_coding chr11:111965956 chr11:111965954 . . 0 hm6A_associated_SNPs_13611 2 Benign not specified RCV000151830.1
1334 chr11 111965954 111965954 1 + T A rs149570245 111965956 + 111965936 111965976 41 CTTATAAGACTCACAGTATAACTAAACATGATATATCAGCT CTTATAAGACTCACAGTAAAACTAAACATGATATATCAGCT < 41bp 1 0.269781902503568 1 0.0367730557918549 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 19 SDHD ENSG00000204370 UTR3 Human protein_coding chr11:111965956 chr11:111965954 . . 0 hm6A_associated_SNPs_13611 2 Benign Pheochromocytoma RCV000316201.1
1335 chr11 117222592 117222592 1 + G A rs490262 117222581 + 117222561 117222601 41 TGGGACCATCCATGTGACGAACACTATCGGAGCTTGGTGAT TGGGACCATCCATGTGACGAACACTATCGGAACTTGGTGAT < 41bp 1 0.643930125312286 1 0.956620216369629 experiment 0.712139749375428 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 32 CEP164 ENSG00000110274 CDS Human protein_coding chr11:117222581 chr11:117222592 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_13622 1 Benign not specified RCV000249179.1
1336 chr11 117869670 117869670 1 + A G rs2229113 117869653 + 117869633 117869673 41 TGACCCTCACCCCCAGGCTGACAGAACGCTGGGAAACAGGG TGACCCTCACCCCCAGGCTGACAGAACGCTGGGAAACGGGG < 41bp 1 0.550181042792644 1 0.991365909576416 experiment 0.899637914414712 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 38 IL10RA ENSG00000110324 CDS Human protein_coding chr11:117869653 chr11:117869670 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_13638 2 Benign Inflammatory bowel disease RCV000283667.1
1337 chr11 117869670 117869670 1 + A G rs2229113 117869653 + 117869633 117869673 41 TGACCCTCACCCCCAGGCTGACAGAACGCTGGGAAACAGGG TGACCCTCACCCCCAGGCTGACAGAACGCTGGGAAACGGGG < 41bp 1 0.550181042792644 1 0.991365909576416 experiment 0.899637914414712 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 38 IL10RA ENSG00000110324 CDS Human protein_coding chr11:117869653 chr11:117869670 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_13638 2 Benign not specified RCV000455516.1
1338 chr11 119177805 119177805 1 + T C rs144022588 119177811 + 119177791 119177831 41 AGGAAAGAATGCTCTCTGTGACTGGAGAGGTGACATGCAGG AGGAAAGAATGCTCCCTGTGACTGGAGAGGTGACATGCAGG < 41bp 1 0.14018769990338 1 0.0222083330154419 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 15 CBL ENSG00000110395 UTR3 Human protein_coding chr11:119177811 chr11:119177805 . . 0 hm6A_associated_SNPs_13662 1 Likely benign Noonan-Like Syndrome Disorder RCV000267370.1
1339 chr11 119178539 119178539 1 + G A rs151221935 119178554 + 119178534 119178574 41 CATAGGTGAGATTTTCGTGGACTATTTTAAAAATGTGTCAT CATAGATGAGATTTTCGTGGACTATTTTAAAAATGTGTCAT < 41bp 1 0.183540691325651 1 0.887003183364868 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control 6 CBL ENSG00000110395 UTR3 Human protein_coding chr11:119178554 chr11:119178539 . . 0 hm6A_associated_SNPs_13664 1 Likely benign Noonan-Like Syndrome Disorder RCV000302826.1
1340 chr11 121180883 121180883 1 + G A rs7125671 121180894 + 121180874 121180914 41 AACTAGGGAGATGACTGAGAACAAAGATATTTGGGATTAAC AACTAGGGAAATGACTGAGAACAAAGATATTTGGGATTAAC < 41bp 1 0.0840647207448693 1 0.00658139586448669 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 10 SC5D ENSG00000109929;ENSG00000232460 intergenic Human other chr11:121180894 chr11:121180883 . . 0 hm6A_associated_SNPs_13685 1 Uncertain significance Lathosterolosis RCV000318043.1
1341 chr11 121183963 121183963 1 + T C rs73592766 121183948 + 121183928 121183968 41 TGTTTAGTTTCTTTAGCTTAACATGTTTAGAGATATTTGCT TGTTTAGTTTCTTTAGCTTAACATGTTTAGAGATACTTGCT < 41bp 1 0.140254149168401 1 0.00040358304977417 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 36 SC5D ENSG00000109929;ENSG00000232460 intergenic Human other chr11:121183948 chr11:121183963 . . 0 hm6A_associated_SNPs_13686 1 Likely benign Lathosterolosis RCV000329351.1
1342 chr11 125769895 125769895 1 + A G rs104894232 125769891 + 125769871 125769911 41 TAAGCCGAAACCGGGGCAAGACAGACCGGGTAGCCCGGTAT TAAGCCGAAACCGGGGCAAGACAGGCCGGGTAGCCCGGTAT < 41bp 1 0.62458449028271 1 0.963582634925842 experiment 0.75083101943458 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 25 HYLS1 ENSG00000198331 CDS Human protein_coding chr11:125769891 chr11:125769895 nonsynonymous SNV 0.988 5 hm6A_associated_SNPs_13714 2 Pathogenic Hydrolethalus syndrome RCV000001202.2
1343 chr11 125769895 125769895 1 + A G rs104894232 125769891 + 125769871 125769911 41 TAAGCCGAAACCGGGGCAAGACAGACCGGGTAGCCCGGTAT TAAGCCGAAACCGGGGCAAGACAGGCCGGGTAGCCCGGTAT < 41bp 1 0.62458449028271 1 0.963582634925842 experiment 0.75083101943458 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 25 HYLS1 ENSG00000198331 CDS Human protein_coding chr11:125769891 chr11:125769895 nonsynonymous SNV 0.988 5 hm6A_associated_SNPs_13714 2 Pathogenic Hydrolethalus syndrome 1 RCV000454127.1
1344 chr11 125770239 125770239 1 + C T rs145788945 125770235 + 125770215 125770255 41 ATCTTCCCTTTTAAATAGAAACAACTGTCTTGAGAAGCTCT ATCTTCCCTTTTAAATAGAAACAATTGTCTTGAGAAGCTCT < 41bp 1 0.487739248964269 1 0.740245044231415 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 HYLS1 ENSG00000198331 UTR3 Human protein_coding chr11:125770235 chr11:125770239 . . 0 hm6A_associated_SNPs_13715 1 Uncertain significance Hydrolethalus syndrome RCV000283335.1
1345 chr11 125770270 125770270 1 + G A rs79600654 125770277 + 125770257 125770297 41 CGAAACATTTTATGGTAAGGACTTCACCTATCATTGGTCTT CGAAACATTTTATAGTAAGGACTTCACCTATCATTGGTCTT < 41bp 1 0.341104810117971 1 0.953007698059082 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 14 HYLS1 ENSG00000198331 UTR3 Human protein_coding chr11:125770277 chr11:125770270 . . 0 hm6A_associated_SNPs_13717 1 Likely benign Hydrolethalus syndrome RCV000343100.1
1346 chr11 126278203 126278203 1 + T C rs2298475 126278207 + 126278187 126278227 41 CCTCCCAACCCCCAGATTGAACAATGCCCCAGTGGCTGGCT CCTCCCAACCCCCAGACTGAACAATGCCCCAGTGGCTGGCT < 41bp 1 0.455979374271612 1 0.933001756668091 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|26593424;GSE73405;miCLIP;HepG2;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 17 ST3GAL4 ENSG00000110080 CDS Human protein_coding chr11:126278207 chr11:126278203 synonymous SNV . 0 hm6A_associated_SNPs_13725 1 Benign not specified RCV000246620.1
1347 chr11 128680701 128680701 1 + G A rs139830377 128680720 + 128680700 128680740 41 TGCCCACCAGCAGAAGGTGAACTTTGTCCCTCCCCATCCAT TACCCACCAGCAGAAGGTGAACTTTGTCCCTCCCCATCCAT < 41bp 1 0.738748065213307 1 0.995136976242065 experiment 0.522503869573386 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 2 FLI1 ENSG00000151702 CDS Human protein_coding chr11:128680720 chr11:128680701 nonsynonymous SNV 0.959 0 hm6A_associated_SNPs_13727 1 Likely benign not specified RCV000503575.1
1348 chr11 134135022 134135022 1 + G A rs144390733 134135042 + 134135022 134135062 41 GGGGCAGAATCCCCAGTGGAACCGGAAGAGCTGGACTGATG AGGGCAGAATCCCCAGTGGAACCGGAAGAGCTGGACTGATG < 41bp 1 0.615590848476904 1 0.915974617004395 experiment 0.768818303046192 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 1 ACAD8 ENSG00000151498 UTR3 Human protein_coding chr11:134135042 chr11:134135022 . . 0 hm6A_associated_SNPs_13775 1 Uncertain significance Deficiency of isobutyryl-CoA dehydrogenase RCV000351129.1
1349 chr12 862280 862280 1 + G A rs118007973 862262 + 862242 862282 41 CGCCACCGCCCGGGCGTCGGACCTGGTCCCGTGCTCGCGGT CGCCACCGCCCGGGCGTCGGACCTGGTCCCGTGCTCGCAGT < 41bp 1 0.618687918558594 1 0.893300354480743 experiment 0.762624162882813 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 WNK1 ENSG00000060237 UTR5 Human protein_coding chr12:862262 chr12:862280 . . 0 hm6A_associated_SNPs_13789 2 Benign Hereditary sensory and autonomic neuropathy type II RCV000300045.1
1350 chr12 862280 862280 1 + G A rs118007973 862262 + 862242 862282 41 CGCCACCGCCCGGGCGTCGGACCTGGTCCCGTGCTCGCGGT CGCCACCGCCCGGGCGTCGGACCTGGTCCCGTGCTCGCAGT < 41bp 1 0.618687918558594 1 0.893300354480743 experiment 0.762624162882813 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 WNK1 ENSG00000060237 UTR5 Human protein_coding chr12:862262 chr12:862280 . . 0 hm6A_associated_SNPs_13789 2 Benign Pseudohypoaldosteronism, type 2 RCV000335719.1
1351 chr12 862661 862661 1 + G A rs140209689 862650 + 862630 862670 41 CCGGCCGCGGTTCCCTGCAGACCTCTGCGCGGGCGGCTCGG CCGGCCGCGGTTCCCTGCAGACCTCTGCGCGAGCGGCTCGG < 41bp 1 0.644726837196854 1 0.985138654708862 experiment 0.710546325606292 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 WNK1 ENSG00000060237 UTR5 Human protein_coding chr12:862650 chr12:862661 . . 0 hm6A_associated_SNPs_13791 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000261689.1
1352 chr12 862661 862661 1 + G A rs140209689 862650 + 862630 862670 41 CCGGCCGCGGTTCCCTGCAGACCTCTGCGCGGGCGGCTCGG CCGGCCGCGGTTCCCTGCAGACCTCTGCGCGAGCGGCTCGG < 41bp 1 0.644726837196854 1 0.985138654708862 experiment 0.710546325606292 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 WNK1 ENSG00000060237 UTR5 Human protein_coding chr12:862650 chr12:862661 . . 0 hm6A_associated_SNPs_13791 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000374999.1
1353 chr12 863152 863152 1 + G A rs11554421 863166 + 863146 863186 41 GCCGCTGCCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC GCCGCTACCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC < 41bp 1 0.656754416305119 1 0.999744594097137 experiment 0.686491167389763 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 7 WNK1 ENSG00000060237 CDS Human protein_coding chr12:863166 chr12:863152 nonsynonymous SNV 0.038 2 hm6A_associated_SNPs_13792 3 Benign not specified RCV000126341.2
1354 chr12 863152 863152 1 + G A rs11554421 863166 + 863146 863186 41 GCCGCTGCCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC GCCGCTACCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC < 41bp 1 0.656754416305119 1 0.999744594097137 experiment 0.686491167389763 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 7 WNK1 ENSG00000060237 CDS Human protein_coding chr12:863166 chr12:863152 nonsynonymous SNV 0.038 2 hm6A_associated_SNPs_13792 3 Benign Pseudohypoaldosteronism, type 2 RCV000274665.1
1355 chr12 863152 863152 1 + G A rs11554421 863166 + 863146 863186 41 GCCGCTGCCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC GCCGCTACCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC < 41bp 1 0.656754416305119 1 0.999744594097137 experiment 0.686491167389763 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 7 WNK1 ENSG00000060237 CDS Human protein_coding chr12:863166 chr12:863152 nonsynonymous SNV 0.038 2 hm6A_associated_SNPs_13792 3 Benign Hereditary sensory and autonomic neuropathy type II RCV000369345.1
1356 chr12 863177 863177 1 + C T rs34880640 863166 + 863146 863186 41 GCCGCTGCCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC GCCGCTGCCGCCCCTGGGGAACAGGCCGTCGTGGGCCCTGC < 41bp 1 0.660006024983191 1 0.999679386615753 experiment 0.679987950033618 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 32 WNK1 ENSG00000060237 CDS Human protein_coding chr12:863166 chr12:863177 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_13793 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000329802.1
1357 chr12 863177 863177 1 + C T rs34880640 863166 + 863146 863186 41 GCCGCTGCCGCCCCTGGGGAACAGGCCGTCGCGGGCCCTGC GCCGCTGCCGCCCCTGGGGAACAGGCCGTCGTGGGCCCTGC < 41bp 1 0.660006024983191 1 0.999679386615753 experiment 0.679987950033618 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 32 WNK1 ENSG00000060237 CDS Human protein_coding chr12:863166 chr12:863177 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_13793 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000384235.1
1358 chr12 922963 922963 1 + G A rs72648609 922954 + 922934 922974 41 TGCATTGTTTTGGTGACTGAACTTATGACGTCTGGAACACT TGCATTGTTTTGGTGACTGAACTTATGACATCTGGAACACT < 41bp 1 0.176310874550905 1 0.860015511512756 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 30 WNK1 ENSG00000060237 CDS Human protein_coding chr12:922954 chr12:922963 synonymous SNV . 0 hm6A_associated_SNPs_13795 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000276874.1
1359 chr12 922963 922963 1 + G A rs72648609 922954 + 922934 922974 41 TGCATTGTTTTGGTGACTGAACTTATGACGTCTGGAACACT TGCATTGTTTTGGTGACTGAACTTATGACATCTGGAACACT < 41bp 1 0.176310874550905 1 0.860015511512756 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 30 WNK1 ENSG00000060237 CDS Human protein_coding chr12:922954 chr12:922963 synonymous SNV . 0 hm6A_associated_SNPs_13795 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000332501.1
1360 chr12 922963 922963 1 + G A rs72648609 922970 + 922950 922990 41 CTGAACTTATGACGTCTGGAACACTTAAAACGTAAGTTCAT CTGAACTTATGACATCTGGAACACTTAAAACGTAAGTTCAT < 41bp 1 0.462962261990574 1 0.5094855427742 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 WNK1 ENSG00000060237 CDS Human protein_coding chr12:922970 chr12:922963 synonymous SNV . 0 hm6A_associated_SNPs_13796 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000276874.1
1361 chr12 922963 922963 1 + G A rs72648609 922970 + 922950 922990 41 CTGAACTTATGACGTCTGGAACACTTAAAACGTAAGTTCAT CTGAACTTATGACATCTGGAACACTTAAAACGTAAGTTCAT < 41bp 1 0.462962261990574 1 0.5094855427742 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 WNK1 ENSG00000060237 CDS Human protein_coding chr12:922970 chr12:922963 synonymous SNV . 0 hm6A_associated_SNPs_13796 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000332501.1
1362 chr12 971349 971349 1 + A G rs72648690 971343 + 971323 971363 41 TCATATGGTTCCCAACATGAACAGGCACATTCTACAGGCAC TCATATGGTTCCCAACATGAACAGGCGCATTCTACAGGCAC < 41bp 1 0.40077944251793 1 0.200605422258377 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 27 WNK1 ENSG00000060237 CDS Human protein_coding chr12:971343 chr12:971349 synonymous SNV . 0 hm6A_associated_SNPs_13797 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000312234.1
1363 chr12 971349 971349 1 + A G rs72648690 971343 + 971323 971363 41 TCATATGGTTCCCAACATGAACAGGCACATTCTACAGGCAC TCATATGGTTCCCAACATGAACAGGCGCATTCTACAGGCAC < 41bp 1 0.40077944251793 1 0.200605422258377 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 27 WNK1 ENSG00000060237 CDS Human protein_coding chr12:971343 chr12:971349 synonymous SNV . 0 hm6A_associated_SNPs_13797 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000403369.1
1364 chr12 993930 993930 1 + C T rs7300444 993944 + 993924 993964 41 ACCCAACACAGCACCTCCAAACTTTAGTCATACAGGACCAA ACCCAATACAGCACCTCCAAACTTTAGTCATACAGGACCAA < 41bp 1 0.643347416881688 1 0.95702850818634 experiment 0.713305166236625 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 7 WNK1 ENSG00000060237 CDS Human protein_coding chr12:993944 chr12:993930 synonymous SNV . 0 hm6A_associated_SNPs_13798 3 Benign not specified RCV000126339.2
1365 chr12 993930 993930 1 + C T rs7300444 993944 + 993924 993964 41 ACCCAACACAGCACCTCCAAACTTTAGTCATACAGGACCAA ACCCAATACAGCACCTCCAAACTTTAGTCATACAGGACCAA < 41bp 1 0.643347416881688 1 0.95702850818634 experiment 0.713305166236625 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 7 WNK1 ENSG00000060237 CDS Human protein_coding chr12:993944 chr12:993930 synonymous SNV . 0 hm6A_associated_SNPs_13798 3 Benign Pseudohypoaldosteronism, type 2 RCV000294740.1
1366 chr12 993930 993930 1 + C T rs7300444 993944 + 993924 993964 41 ACCCAACACAGCACCTCCAAACTTTAGTCATACAGGACCAA ACCCAATACAGCACCTCCAAACTTTAGTCATACAGGACCAA < 41bp 1 0.643347416881688 1 0.95702850818634 experiment 0.713305166236625 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 7 WNK1 ENSG00000060237 CDS Human protein_coding chr12:993944 chr12:993930 synonymous SNV . 0 hm6A_associated_SNPs_13798 3 Benign Hereditary sensory and autonomic neuropathy type II RCV000389073.1
1367 chr12 998338 998338 1 + A G rs148639270 998348 + 998328 998368 41 TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATC TTGATGCTCAGTTGAGAAGAACACTTAGTCCAGAGATGATC < 41bp 1 0.494549719837748 1 0.545247495174408 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 WNK1 ENSG00000060237 CDS Human protein_coding chr12:998348 chr12:998338 synonymous SNV . 0 hm6A_associated_SNPs_13799 2 Benign Pseudohypoaldosteronism, type 2 RCV000302716.1
1368 chr12 998338 998338 1 + A G rs148639270 998348 + 998328 998368 41 TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATC TTGATGCTCAGTTGAGAAGAACACTTAGTCCAGAGATGATC < 41bp 1 0.494549719837748 1 0.545247495174408 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 11 WNK1 ENSG00000060237 CDS Human protein_coding chr12:998348 chr12:998338 synonymous SNV . 0 hm6A_associated_SNPs_13799 2 Benign Hereditary sensory and autonomic neuropathy type II RCV000405779.1
1369 chr12 998365 998365 1 + G T rs12828016 998348 + 998328 998368 41 TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATC TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATTATC < 41bp 1 0.475612460801078 1 0.538377404212952 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 38 WNK1 ENSG00000060237 CDS Human protein_coding chr12:998348 chr12:998365 nonsynonymous SNV 0.311 0 hm6A_associated_SNPs_13800 3 Benign not specified RCV000250212.1
1370 chr12 998365 998365 1 + G T rs12828016 998348 + 998328 998368 41 TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATC TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATTATC < 41bp 1 0.475612460801078 1 0.538377404212952 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 38 WNK1 ENSG00000060237 CDS Human protein_coding chr12:998348 chr12:998365 nonsynonymous SNV 0.311 0 hm6A_associated_SNPs_13800 3 Benign Pseudohypoaldosteronism, type 2 RCV000355246.1
1371 chr12 998365 998365 1 + G T rs12828016 998348 + 998328 998368 41 TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATGATC TTGATGCTCAATTGAGAAGAACACTTAGTCCAGAGATTATC < 41bp 1 0.475612460801078 1 0.538377404212952 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 38 WNK1 ENSG00000060237 CDS Human protein_coding chr12:998348 chr12:998365 nonsynonymous SNV 0.311 0 hm6A_associated_SNPs_13800 3 Benign Hereditary sensory and autonomic neuropathy type II RCV000394062.1
1372 chr12 1005644 1005644 1 + G A rs61736907 1005653 + 1005633 1005673 41 CCAAAGAAAGAGAAGCCTGAACTGTCAGAGCCTTCACATCT CCAAAGAAAGAAAAGCCTGAACTGTCAGAGCCTTCACATCT < 41bp 1 0.737491025443339 1 0.993741750717163 experiment 0.525017949113323 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 12 WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005653 chr12:1005644 synonymous SNV . 0 hm6A_associated_SNPs_13802 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000263989.1
1373 chr12 1005644 1005644 1 + G A rs61736907 1005653 + 1005633 1005673 41 CCAAAGAAAGAGAAGCCTGAACTGTCAGAGCCTTCACATCT CCAAAGAAAGAAAAGCCTGAACTGTCAGAGCCTTCACATCT < 41bp 1 0.737491025443339 1 0.993741750717163 experiment 0.525017949113323 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 12 WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005653 chr12:1005644 synonymous SNV . 0 hm6A_associated_SNPs_13802 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000361402.1
1374 chr12 1005685 1005685 1 + C A rs560836712 1005691 + 1005671 1005711 41 TCTAAATGGGCCGTCTTCTGACCCGGAGGCCGCTTTTTTAA TCTAAATGGGCCGTATTCTGACCCGGAGGCCGCTTTTTTAA < 41bp 1 0.480514466309781 1 0.960870623588562 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005691 chr12:1005685 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_13803 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000321423.1
1375 chr12 1005685 1005685 1 + C A rs560836712 1005691 + 1005671 1005711 41 TCTAAATGGGCCGTCTTCTGACCCGGAGGCCGCTTTTTTAA TCTAAATGGGCCGTATTCTGACCCGGAGGCCGCTTTTTTAA < 41bp 1 0.480514466309781 1 0.960870623588562 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005691 chr12:1005685 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_13803 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000383533.1
1376 chr12 1019300 1019300 1 + G A rs77954451 1019282 + 1019262 1019302 41 CGTGACCTAGAAGAAACTGAACATAAAGAGAAGGGGGTGGG CGTGACCTAGAAGAAACTGAACATAAAGAGAAGGGGGTAGG < 41bp 1 0.686304788070893 1 0.679875791072845 experiment 0.627390423858214 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 39 WNK1 ENSG00000060237 UTR3 Human protein_coding chr12:1019282 chr12:1019300 . . 0 hm6A_associated_SNPs_13805 2 Uncertain significance Hereditary sensory and autonomic neuropathy type II RCV000266225.1
1377 chr12 1019300 1019300 1 + G A rs77954451 1019282 + 1019262 1019302 41 CGTGACCTAGAAGAAACTGAACATAAAGAGAAGGGGGTGGG CGTGACCTAGAAGAAACTGAACATAAAGAGAAGGGGGTAGG < 41bp 1 0.686304788070893 1 0.679875791072845 experiment 0.627390423858214 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 39 WNK1 ENSG00000060237 UTR3 Human protein_coding chr12:1019282 chr12:1019300 . . 0 hm6A_associated_SNPs_13805 2 Uncertain significance Pseudohypoaldosteronism, type 2 RCV000323685.1
1378 chr12 5021840 5021840 1 + C G rs76066681 5021857 + 5021837 5021877 41 TTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCA TTCGCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCA < 41bp 1 0.638601837254975 1 0.731049954891205 experiment 0.722796325490049 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 4 KCNA1 ENSG00000111262 CDS Human protein_coding chr12:5021857 chr12:5021840 synonymous SNV . 0 hm6A_associated_SNPs_13871 3 Benign not specified RCV000175558.1
1379 chr12 5021840 5021840 1 + C G rs76066681 5021857 + 5021837 5021877 41 TTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCA TTCGCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCA < 41bp 1 0.638601837254975 1 0.731049954891205 experiment 0.722796325490049 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 4 KCNA1 ENSG00000111262 CDS Human protein_coding chr12:5021857 chr12:5021840 synonymous SNV . 0 hm6A_associated_SNPs_13871 3 Benign Myokymia RCV000300664.1
1380 chr12 5021840 5021840 1 + C G rs76066681 5021857 + 5021837 5021877 41 TTCCCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCA TTCGCCTAACTTAGCCTCTGACAGTGACCTCAGTCGCCGCA < 41bp 1 0.638601837254975 1 0.731049954891205 experiment 0.722796325490049 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 4 KCNA1 ENSG00000111262 CDS Human protein_coding chr12:5021857 chr12:5021840 synonymous SNV . 0 hm6A_associated_SNPs_13871 3 Benign Episodic ataxia RCV000391597.1
1381 chr12 6979725 6979725 1 + G A rs144171030 6979721 + 6979701 6979741 41 TTCACCCTGTAATGGTTGGGACCAGGCCAATCCCTTCTCCA TTCACCCTGTAATGGTTGGGACCAAGCCAATCCCTTCTCCA < 41bp 1 0.497850011604105 1 0.92441713809967 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 TPI1 ENSG00000111669 UTR3 Human protein_coding chr12:6979721 chr12:6979725 . . 0 hm6A_associated_SNPs_13896 1 Uncertain significance Triosephosphate isomerase deficiency RCV000356073.1
1382 chr12 6979967 6979967 1 + T C rs58194764 6979959 + 6979939 6979979 41 CCTCTGTGCTGTGTATGTGAACCACCCATGTGAGGGAATAA CCTCTGTGCTGTGTATGTGAACCACCCACGTGAGGGAATAA < 41bp 1 0.0848016057258414 1 0.175090551376343 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 29 TPI1 ENSG00000111669 UTR3 Human protein_coding chr12:6979959 chr12:6979967 . . 0 hm6A_associated_SNPs_13899 1 Benign Triosephosphate isomerase deficiency RCV000267394.1
1383 chr12 7080187 7080187 1 + C G rs11064480 7080193 + 7080173 7080213 41 GCCCCGACTAGGGGCAGGAAACAAGATCGGAGGCCGTAGTT GCCCCGACTAGGGGGAGGAAACAAGATCGGAGGCCGTAGTT < 41bp 1 0.163117254919213 1 0.585782945156097 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 15 EMG1 ENSG00000126749 CDS Human protein_coding chr12:7080193 chr12:7080187 nonsynonymous SNV 0.934 0 hm6A_associated_SNPs_13916 1 Benign not specified RCV000202817.1
1384 chr12 7362839 7362839 1 + G C rs145760932 7362819 + 7362799 7362839 41 ATGTTTGGCCTGCCCCAGTGACAGTGGGACGGGCTGCCCTG ATGTTTGGCCTGCCCCAGTGACAGTGGGACGGGCTGCCCTC < 41bp 1 0.715814651025857 1 0.940506219863892 experiment 0.568370697948286 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 41 PEX5 ENSG00000139197 splicing Human protein_coding chr12:7362819 chr12:7362839 . . 0 hm6A_associated_SNPs_13933 1 Likely benign not specified RCV000244336.1
1385 chr12 12870938 12870938 1 + G A rs16908375 12870925 + 12870905 12870945 41 CTTGGAGAAGCACTGCAGAGACATGGAAGAGGCGAGCCAGC CTTGGAGAAGCACTGCAGAGACATGGAAGAGGCAAGCCAGC < 41bp 1 0.775430009505692 1 0.999614596366882 experiment 0.449139980988616 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870925 chr12:12870938 synonymous SNV . 0 hm6A_associated_SNPs_13978 3 Benign Multiple endocrine neoplasia, type 4 RCV000226150.2
1386 chr12 12870938 12870938 1 + G A rs16908375 12870925 + 12870905 12870945 41 CTTGGAGAAGCACTGCAGAGACATGGAAGAGGCGAGCCAGC CTTGGAGAAGCACTGCAGAGACATGGAAGAGGCAAGCCAGC < 41bp 1 0.775430009505692 1 0.999614596366882 experiment 0.449139980988616 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870925 chr12:12870938 synonymous SNV . 0 hm6A_associated_SNPs_13978 3 Benign not specified RCV000253639.1
1387 chr12 12870938 12870938 1 + G A rs16908375 12870925 + 12870905 12870945 41 CTTGGAGAAGCACTGCAGAGACATGGAAGAGGCGAGCCAGC CTTGGAGAAGCACTGCAGAGACATGGAAGAGGCAAGCCAGC < 41bp 1 0.775430009505692 1 0.999614596366882 experiment 0.449139980988616 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 34 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870925 chr12:12870938 synonymous SNV . 0 hm6A_associated_SNPs_13978 3 Benign Multiple endocrine neoplasia RCV000374063.1
1388 chr12 12871199 12871199 1 + G A rs149775942 12871189 + 12871169 12871209 41 CCCAAAGACTGATCCGTCGGACAGCCAGACGGGGTTAGCGG CCCAAAGACTGATCCGTCGGACAGCCAGACAGGGTTAGCGG < 41bp 1 0.749380083748982 1 0.999099016189575 experiment 0.501239832502035 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 31 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12871189 chr12:12871199 synonymous SNV . 0 hm6A_associated_SNPs_13979 3 Benign Multiple endocrine neoplasia, type 4 RCV000227466.2
1389 chr12 12871199 12871199 1 + G A rs149775942 12871189 + 12871169 12871209 41 CCCAAAGACTGATCCGTCGGACAGCCAGACGGGGTTAGCGG CCCAAAGACTGATCCGTCGGACAGCCAGACAGGGTTAGCGG < 41bp 1 0.749380083748982 1 0.999099016189575 experiment 0.501239832502035 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 31 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12871189 chr12:12871199 synonymous SNV . 0 hm6A_associated_SNPs_13979 3 other not specified RCV000249781.1
1390 chr12 12871199 12871199 1 + G A rs149775942 12871189 + 12871169 12871209 41 CCCAAAGACTGATCCGTCGGACAGCCAGACGGGGTTAGCGG CCCAAAGACTGATCCGTCGGACAGCCAGACAGGGTTAGCGG < 41bp 1 0.749380083748982 1 0.999099016189575 experiment 0.501239832502035 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 31 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12871189 chr12:12871199 synonymous SNV . 0 hm6A_associated_SNPs_13979 3 Likely benign Multiple endocrine neoplasia RCV000395788.1
1391 chr12 21069049 21069049 1 + G A rs60571683 21069051 + 21069031 21069071 41 AAAAGATACCAAGGCATCGGACAATGAAAGAAAAGTAATGG AAAAGATACCAAGGCATCAGACAATGAAAGAAAAGTAATGG < 41bp 1 0.63891662848915 1 0.557914853096008 experiment 0.722166743021699 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 19 SLCO1B3 ENSG00000111700 CDS Human protein_coding chr12:21069051 chr12:21069049 synonymous SNV . 0 hm6A_associated_SNPs_14014 1 Likely benign Rotor syndrome RCV000300209.1
1392 chr12 32735037 32735037 1 + C T rs145115430 32735045 + 32735025 32735065 41 AGGGAAATGATACAGATAAGACTCAGGGTGCACAGACTTGT AGGGAAATGATATAGATAAGACTCAGGGTGCACAGACTTGT < 41bp 1 0.792260909704221 1 0.66745126247406 experiment 0.415478180591558 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 FGD4 ENSG00000139132 CDS Human protein_coding chr12:32735045 chr12:32735037 nonsynonymous SNV 0.035 1 hm6A_associated_SNPs_14089 1 Likely benign Charcot-Marie-Tooth disease, type IV RCV000467571.1
1393 chr12 32793489 32793489 1 + G A rs114284024 32793505 + 32793485 32793525 41 CATGGTGTGGAGGTCTCAGGACTTACAGCTCAAGACATTCC CATGATGTGGAGGTCTCAGGACTTACAGCTCAAGACATTCC < 41bp 1 0.770384884339303 1 0.98817503452301 experiment 0.459230231321393 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 5 FGD4 ENSG00000139132 UTR3 Human protein_coding chr12:32793505 chr12:32793489 . . 0 hm6A_associated_SNPs_14090 1 Likely benign Charcot-Marie-Tooth, Type 4 RCV000377512.1
1394 chr12 32896365 32896365 1 + G C rs1059422 32896375 + 32896355 32896395 41 GTAATACTGAGACTTTGTTGACTCAAAACTTGCTAGTTACT GTAATACTGACACTTTGTTGACTCAAAACTTGCTAGTTACT < 41bp 1 0.723837395845368 1 0.868819832801819 experiment 0.552325208309264 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 11 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896375 chr12:32896365 . . 0 hm6A_associated_SNPs_14092 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000300893.1
1395 chr12 32896365 32896365 1 + G C rs1059422 32896375 + 32896355 32896395 41 GTAATACTGAGACTTTGTTGACTCAAAACTTGCTAGTTACT GTAATACTGACACTTTGTTGACTCAAAACTTGCTAGTTACT < 41bp 1 0.723837395845368 1 0.868819832801819 experiment 0.552325208309264 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 11 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896375 chr12:32896365 . . 0 hm6A_associated_SNPs_14092 3 Benign Lethal Encephalopathy RCV000353033.1
1396 chr12 32896365 32896365 1 + G C rs1059422 32896375 + 32896355 32896395 41 GTAATACTGAGACTTTGTTGACTCAAAACTTGCTAGTTACT GTAATACTGACACTTTGTTGACTCAAAACTTGCTAGTTACT < 41bp 1 0.723837395845368 1 0.868819832801819 experiment 0.552325208309264 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 11 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896375 chr12:32896365 . . 0 hm6A_associated_SNPs_14092 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000367296.1
1397 chr12 32896366 32896366 1 + A T rs3200103 32896375 + 32896355 32896395 41 GTAATACTGAGACTTTGTTGACTCAAAACTTGCTAGTTACT GTAATACTGAGTCTTTGTTGACTCAAAACTTGCTAGTTACT < 41bp 1 0.706160191248489 1 0.846004247665405 experiment 0.587679617503021 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 12 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896375 chr12:32896366 . . 0 hm6A_associated_SNPs_14093 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000275050.1
1398 chr12 32896366 32896366 1 + A T rs3200103 32896375 + 32896355 32896395 41 GTAATACTGAGACTTTGTTGACTCAAAACTTGCTAGTTACT GTAATACTGAGTCTTTGTTGACTCAAAACTTGCTAGTTACT < 41bp 1 0.706160191248489 1 0.846004247665405 experiment 0.587679617503021 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 12 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896375 chr12:32896366 . . 0 hm6A_associated_SNPs_14093 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000313747.1
1399 chr12 32896366 32896366 1 + A T rs3200103 32896375 + 32896355 32896395 41 GTAATACTGAGACTTTGTTGACTCAAAACTTGCTAGTTACT GTAATACTGAGTCTTTGTTGACTCAAAACTTGCTAGTTACT < 41bp 1 0.706160191248489 1 0.846004247665405 experiment 0.587679617503021 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 12 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896375 chr12:32896366 . . 0 hm6A_associated_SNPs_14093 3 Benign Lethal Encephalopathy RCV000332280.1
1400 chr12 32896615 32896615 1 + C G rs1020670 32896614 + 32896594 32896634 41 CATCTGAACTTAACTTAAAAACAACTGTTAATGTTCTAGTT CATCTGAACTTAACTTAAAAAGAACTGTTAATGTTCTAGTT Direct Loss 1 0.784618724154727 1 0.815163314342499 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 22 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896614 chr12:32896615 . . 0 hm6A_associated_SNPs_14094 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000268977.1
1401 chr12 32896615 32896615 1 + C G rs1020670 32896614 + 32896594 32896634 41 CATCTGAACTTAACTTAAAAACAACTGTTAATGTTCTAGTT CATCTGAACTTAACTTAAAAAGAACTGTTAATGTTCTAGTT Direct Loss 1 0.784618724154727 1 0.815163314342499 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 22 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896614 chr12:32896615 . . 0 hm6A_associated_SNPs_14094 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000370573.1
1402 chr12 32896615 32896615 1 + C G rs1020670 32896614 + 32896594 32896634 41 CATCTGAACTTAACTTAAAAACAACTGTTAATGTTCTAGTT CATCTGAACTTAACTTAAAAAGAACTGTTAATGTTCTAGTT Direct Loss 1 0.784618724154727 1 0.815163314342499 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 22 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896614 chr12:32896615 . . 0 hm6A_associated_SNPs_14094 3 Benign Lethal Encephalopathy RCV000383827.1
1403 chr12 32896737 32896737 1 + A C rs77298476 32896749 + 32896729 32896769 41 CCAAGACAACATTTCATATGACTATAATGCATGTACTATAT CCAAGACACCATTTCATATGACTATAATGCATGTACTATAT < 41bp 1 0.473922745714874 1 0.80050790309906 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 9 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896749 chr12:32896737 . . 0 hm6A_associated_SNPs_14095 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000326445.1
1404 chr12 32896737 32896737 1 + A C rs77298476 32896749 + 32896729 32896769 41 CCAAGACAACATTTCATATGACTATAATGCATGTACTATAT CCAAGACACCATTTCATATGACTATAATGCATGTACTATAT < 41bp 1 0.473922745714874 1 0.80050790309906 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 9 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896749 chr12:32896737 . . 0 hm6A_associated_SNPs_14095 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000364831.1
1405 chr12 32896737 32896737 1 + A C rs77298476 32896749 + 32896729 32896769 41 CCAAGACAACATTTCATATGACTATAATGCATGTACTATAT CCAAGACACCATTTCATATGACTATAATGCATGTACTATAT < 41bp 1 0.473922745714874 1 0.80050790309906 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 9 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32896749 chr12:32896737 . . 0 hm6A_associated_SNPs_14095 3 Likely benign Lethal Encephalopathy RCV000407287.1
1406 chr12 32897088 32897088 1 + A T rs1971911 32897092 + 32897072 32897112 41 ACCCTTGATTATCTAGAAAGACTTGGTAATGATGGTCAGTT ACCCTTGATTATCTAGTAAGACTTGGTAATGATGGTCAGTT < 41bp 1 0.165522435720025 1 0.221515238285065 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 17 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897092 chr12:32897088 . . 0 hm6A_associated_SNPs_14096 3 Likely benign Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis RCV000285137.1
1407 chr12 32897088 32897088 1 + A T rs1971911 32897092 + 32897072 32897112 41 ACCCTTGATTATCTAGAAAGACTTGGTAATGATGGTCAGTT ACCCTTGATTATCTAGTAAGACTTGGTAATGATGGTCAGTT < 41bp 1 0.165522435720025 1 0.221515238285065 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 17 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897092 chr12:32897088 . . 0 hm6A_associated_SNPs_14096 3 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000377247.1
1408 chr12 32897088 32897088 1 + A T rs1971911 32897092 + 32897072 32897112 41 ACCCTTGATTATCTAGAAAGACTTGGTAATGATGGTCAGTT ACCCTTGATTATCTAGTAAGACTTGGTAATGATGGTCAGTT < 41bp 1 0.165522435720025 1 0.221515238285065 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 17 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897092 chr12:32897088 . . 0 hm6A_associated_SNPs_14096 3 Benign Lethal Encephalopathy RCV000405634.1
1409 chr12 32897623 32897623 1 + G A rs565593913 32897638 + 32897618 32897658 41 GCCTTGGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAA GCCTTAGCAACAAGAGCGAAACTCCGTCTCAAAAAAAAAAA < 41bp 1 0.088522740226914 1 0.0118820071220398 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 6 DNM1L ENSG00000087470 UTR3 Human protein_coding chr12:32897638 chr12:32897623 . . 0 hm6A_associated_SNPs_14097 1 Likely benign Lethal Encephalopathy RCV000324791.1
1410 chr12 48527186 48527186 1 + C T rs1049392 48527167 + 48527147 48527187 41 GGGCCTGGTTGGGTCAATTGACAATGACTTCTGTGGCACCG GGGCCTGGTTGGGTCAATTGACAATGACTTCTGTGGCACTG < 41bp 1 0.689136592070653 1 0.881130695343018 experiment 0.621726815858694 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 40 PFKM ENSG00000152556 CDS Human protein_coding chr12:48527167 chr12:48527186 synonymous SNV . 0 hm6A_associated_SNPs_14128 2 Benign not specified RCV000245750.2
1411 chr12 48527186 48527186 1 + C T rs1049392 48527167 + 48527147 48527187 41 GGGCCTGGTTGGGTCAATTGACAATGACTTCTGTGGCACCG GGGCCTGGTTGGGTCAATTGACAATGACTTCTGTGGCACTG < 41bp 1 0.689136592070653 1 0.881130695343018 experiment 0.621726815858694 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 40 PFKM ENSG00000152556 CDS Human protein_coding chr12:48527167 chr12:48527186 synonymous SNV . 0 hm6A_associated_SNPs_14128 2 Benign Glycogen storage disease, type VII RCV000407369.1
1412 chr12 48527186 48527186 1 + C T rs1049392 48527193 + 48527173 48527213 41 ACTTCTGTGGCACCGATATGACCATTGGCACTGACTCTGCC ACTTCTGTGGCACTGATATGACCATTGGCACTGACTCTGCC < 41bp 1 0.36655228951322 1 0.859577178955078 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 14 PFKM ENSG00000152556 CDS Human protein_coding chr12:48527193 chr12:48527186 synonymous SNV . 0 hm6A_associated_SNPs_14129 2 Benign not specified RCV000245750.2
1413 chr12 48527186 48527186 1 + C T rs1049392 48527193 + 48527173 48527213 41 ACTTCTGTGGCACCGATATGACCATTGGCACTGACTCTGCC ACTTCTGTGGCACTGATATGACCATTGGCACTGACTCTGCC < 41bp 1 0.36655228951322 1 0.859577178955078 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 14 PFKM ENSG00000152556 CDS Human protein_coding chr12:48527193 chr12:48527186 synonymous SNV . 0 hm6A_associated_SNPs_14129 2 Benign Glycogen storage disease, type VII RCV000407369.1
1414 chr12 52202362 52202362 1 + T C rs570715105 52202365 + 52202345 52202385 41 GCCTTCATACTGGAGAATTGACACTTATTTGGGGTAGAGAT GCCTTCATACTGGAGAACTGACACTTATTTGGGGTAGAGAT < 41bp 1 0.393868721798347 1 0.583298981189728 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 18 SCN8A ENSG00000196876 UTR3 Human protein_coding chr12:52202365 chr12:52202362 . . 0 hm6A_associated_SNPs_14176 1 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000298328.1
1415 chr12 53344142 53344142 1 + A G rs59979366 53344131 + 53344111 53344151 41 GATCTTCGCAAATACTGTGGACAATGCCCGCATCGTTCTGC GATCTTCGCAAATACTGTGGACAATGCCCGCGTCGTTCTGC < 41bp 1 0.459116181936578 1 0.475223958492279 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 32 KRT18 ENSG00000111057 CDS Human protein_coding chr12:53344131 chr12:53344142 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_14188 1 not provided not provided RCV000056437.1
1416 chr12 53344142 53344142 1 + A G rs59979366 53344158 + 53344138 53344178 41 CCGCATCGTTCTGCAGATTGACAATGCCCGTCTTGCTGCTG CCGCGTCGTTCTGCAGATTGACAATGCCCGTCTTGCTGCTG < 41bp 1 0.453146680342471 1 0.785800874233246 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 5 KRT18 ENSG00000111057 CDS Human protein_coding chr12:53344158 chr12:53344142 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_14189 1 not provided not provided RCV000056437.1
1417 chr12 58141938 58141938 1 + A C rs3473 58141919 - 58141899 58141939 41 TTTCCTGCAAAACCTTAAAGACTGGTTAAATTACAGGGCCT TGTCCTGCAAAACCTTAAAGACTGGTTAAATTACAGGGCCT < 41bp 1 0.454185543574835 1 0.90033233165741 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 CDK4;TSPAN31 ENSG00000135446;ENSG00000135452 UTR3 Human other chr12:58141919 chr12:58141938 . . 0 hm6A_associated_SNPs_14318 1 Benign Cutaneous Malignant Melanoma, Dominant RCV000276725.1
1418 chr12 58190142 58190142 1 + G A rs114694283 58190131 + 58190111 58190151 41 GACGTCTGAACAGAAAACAAACCTTGAAGACGTTGGCCGCC GACGTCTGAACAGAAAACAAACCTTGAAGACATTGGCCGCC < 41bp 1 0.783826070979373 1 0.925942540168762 experiment 0.432347858041253 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 TSFM ENSG00000123297 CDS Human protein_coding chr12:58190131 chr12:58190142 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_14322 3 Benign not specified RCV000125722.1
1419 chr12 58190142 58190142 1 + G A rs114694283 58190131 + 58190111 58190151 41 GACGTCTGAACAGAAAACAAACCTTGAAGACGTTGGCCGCC GACGTCTGAACAGAAAACAAACCTTGAAGACATTGGCCGCC < 41bp 1 0.783826070979373 1 0.925942540168762 experiment 0.432347858041253 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 TSFM ENSG00000123297 CDS Human protein_coding chr12:58190131 chr12:58190142 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_14322 3 Likely benign not provided RCV000224676.1
1420 chr12 58190142 58190142 1 + G A rs114694283 58190131 + 58190111 58190151 41 GACGTCTGAACAGAAAACAAACCTTGAAGACGTTGGCCGCC GACGTCTGAACAGAAAACAAACCTTGAAGACATTGGCCGCC < 41bp 1 0.783826070979373 1 0.925942540168762 experiment 0.432347858041253 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 TSFM ENSG00000123297 CDS Human protein_coding chr12:58190131 chr12:58190142 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_14322 3 Likely benign Combined oxidative phosphorylation deficiency RCV000329582.1
1421 chr12 64196045 64196045 1 + C T rs146732392 64196054 + 64196034 64196074 41 GTTGTTTTGCTCGGAAATGAACATTGTGATAATGAGTGGAT GTTGTTTTGCTTGGAAATGAACATTGTGATAATGAGTGGAT < 41bp 1 0.714083985456114 1 0.913162112236023 experiment 0.571832029087773 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 12 TMEM5 ENSG00000118600 CDS Human protein_coding chr12:64196054 chr12:64196045 synonymous SNV . 0 hm6A_associated_SNPs_14340 1 Benign not specified RCV000386211.2
1422 chr12 65564238 65564238 1 + C G rs144086377 65564241 + 65564221 65564261 41 CCCGGCATCGGCCCAGACGAACCCATAGTAAGCCTCTCCCC CCCGGCATCGGCCCAGAGGAACCCATAGTAAGCCTCTCCCC < 41bp 1 0.747810247697148 1 0.998167395591736 experiment 0.504379504605704 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 18 LEMD3 ENSG00000174106 CDS Human protein_coding chr12:65564241 chr12:65564238 nonsynonymous SNV 0.895 1 hm6A_associated_SNPs_14354 1 Uncertain significance not specified RCV000301712.1
1423 chr12 65564283 65564283 1 + G T rs35221558 65564298 + 65564278 65564318 41 CGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGA CGGCCTGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGA < 41bp 1 0.655113963073702 1 0.999675512313843 experiment 0.689772073852596 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 LEMD3 ENSG00000174106 CDS Human protein_coding chr12:65564298 chr12:65564283 nonsynonymous SNV 0.013 1 hm6A_associated_SNPs_14355 2 Uncertain significance not specified RCV000260227.1
1424 chr12 65564283 65564283 1 + G T rs35221558 65564298 + 65564278 65564318 41 CGGCCGGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGA CGGCCTGCGGCAGGCTGGAGACTTCAGTTCAGGGAGGGGGA < 41bp 1 0.655113963073702 1 0.999675512313843 experiment 0.689772073852596 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 LEMD3 ENSG00000174106 CDS Human protein_coding chr12:65564298 chr12:65564283 nonsynonymous SNV 0.013 1 hm6A_associated_SNPs_14355 2 Likely benign Dermatofibrosis lenticularis disseminata RCV000406278.1
1425 chr12 65640027 65640027 1 + G A rs17101179 65640047 + 65640027 65640067 41 GCCATCAAATAAACATATGAACTCCATGTCTCATCTTCGTC ACCATCAAATAAACATATGAACTCCATGTCTCATCTTCGTC < 41bp 1 0.770676744199165 1 0.936280012130737 experiment 0.45864651160167 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 1 LEMD3 ENSG00000174106 CDS Human protein_coding chr12:65640047 chr12:65640027 synonymous SNV . 0 hm6A_associated_SNPs_14357 1 Likely benign Dermatofibrosis lenticularis disseminata RCV000264051.1
1426 chr12 88452656 88452656 1 + T C rs77778467 88452658 - 88452638 88452678 41 TCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCA TCCACAGCTTGAAGGTGCTGACGGTAAGAGCTGGAAATCCA Direct Loss 1 0.218768724081214 1 0.0136272609233856 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 23 CEP290 ENSG00000198707 CDS Human protein_coding chr12:88452658 chr12:88452656 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_14455 3 Likely benign not provided RCV000132681.1
1427 chr12 88452656 88452656 1 + T C rs77778467 88452658 - 88452638 88452678 41 TCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCA TCCACAGCTTGAAGGTGCTGACGGTAAGAGCTGGAAATCCA Direct Loss 1 0.218768724081214 1 0.0136272609233856 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 23 CEP290 ENSG00000198707 CDS Human protein_coding chr12:88452658 chr12:88452656 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_14455 3 Uncertain significance not specified RCV000193732.1
1428 chr12 88452656 88452656 1 + T C rs77778467 88452658 - 88452638 88452678 41 TCCACAGCTTGAAGGTGCTGACAGTAAGAGCTGGAAATCCA TCCACAGCTTGAAGGTGCTGACGGTAAGAGCTGGAAATCCA Direct Loss 1 0.218768724081214 1 0.0136272609233856 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 23 CEP290 ENSG00000198707 CDS Human protein_coding chr12:88452658 chr12:88452656 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_14455 3 Uncertain significance Leber congenital amaurosis 10 RCV000490488.1
1429 chr12 98926912 98926912 1 + T G rs35645287 98926932 + 98926912 98926952 41 TCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC GCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC < 41bp 1 0.720909906224296 1 0.0922169387340546 experiment 0.558180187551407 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 1 TMPO ENSG00000120802 CDS Human protein_coding chr12:98926932 chr12:98926912 nonsynonymous SNV 0.990 1 hm6A_associated_SNPs_14505 5 Benign Cardiomyopathy RCV000030558.1
1430 chr12 98926912 98926912 1 + T G rs35645287 98926932 + 98926912 98926952 41 TCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC GCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC < 41bp 1 0.720909906224296 1 0.0922169387340546 experiment 0.558180187551407 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 1 TMPO ENSG00000120802 CDS Human protein_coding chr12:98926932 chr12:98926912 nonsynonymous SNV 0.990 1 hm6A_associated_SNPs_14505 5 Benign not specified RCV000037756.4
1431 chr12 98926912 98926912 1 + T G rs35645287 98926932 + 98926912 98926952 41 TCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC GCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC < 41bp 1 0.720909906224296 1 0.0922169387340546 experiment 0.558180187551407 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 1 TMPO ENSG00000120802 CDS Human protein_coding chr12:98926932 chr12:98926912 nonsynonymous SNV 0.990 1 hm6A_associated_SNPs_14505 5 Benign Cardiovascular phenotype RCV000249431.1
1432 chr12 98926912 98926912 1 + T G rs35645287 98926932 + 98926912 98926952 41 TCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC GCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC < 41bp 1 0.720909906224296 1 0.0922169387340546 experiment 0.558180187551407 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 1 TMPO ENSG00000120802 CDS Human protein_coding chr12:98926932 chr12:98926912 nonsynonymous SNV 0.990 1 hm6A_associated_SNPs_14505 5 Likely benign Dilated Cardiomyopathy, Dominant RCV000365264.1
1433 chr12 98926912 98926912 1 + T G rs35645287 98926932 + 98926912 98926952 41 TCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC GCGTCATCTTCTCAGCCTGAACACAGTGCCATGTTGGTCTC < 41bp 1 0.720909906224296 1 0.0922169387340546 experiment 0.558180187551407 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 1 TMPO ENSG00000120802 CDS Human protein_coding chr12:98926932 chr12:98926912 nonsynonymous SNV 0.990 1 hm6A_associated_SNPs_14505 5 Benign Loeys-Dietz syndrome 2 RCV000463882.1
1434 chr12 105538216 105538216 1 + G A rs74426960 105538225 + 105538205 105538245 41 GTTTTTCAATCGTTTCATTGACATTCGGGGTGAGTGTTTTG GTTTTTCAATCATTTCATTGACATTCGGGGTGAGTGTTTTG < 41bp 1 0.54864473981296 1 0.22036200761795 experiment 0.90271052037408 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 12 WASHC4 ENSG00000136051 CDS Human protein_coding chr12:105538225 chr12:105538216 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_14556 1 Uncertain significance not specified RCV000504057.1
1435 chr12 106903892 106903892 1 + G A rs55715506 106903906 + 106903886 106903926 41 AATGTCGTCTTCTCCTATGGACTCAATTGCTATTATTTTAA AATGTCATCTTCTCCTATGGACTCAATTGCTATTATTTTAA < 41bp 1 0.246332645257563 1 0.981435656547546 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 LOC100287944 ENSG00000013503 UTR3 Human protein_coding chr12:106903906 chr12:106903892 . . 0 hm6A_associated_SNPs_14568 1 Uncertain significance Pol III-related leukodystrophy RCV000346823.1
1436 chr12 106903909 106903909 1 + C G rs75217257 106903906 + 106903886 106903926 41 AATGTCGTCTTCTCCTATGGACTCAATTGCTATTATTTTAA AATGTCGTCTTCTCCTATGGACTGAATTGCTATTATTTTAA < 41bp 1 0.297860182710842 1 0.99030876159668 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 24 LOC100287944 ENSG00000013503 UTR3 Human protein_coding chr12:106903906 chr12:106903909 . . 0 hm6A_associated_SNPs_14569 1 Uncertain significance Pol III-related leukodystrophy RCV000400106.1
1437 chr12 110029057 110029057 1 + C A rs34975996 110029073 + 110029053 110029093 41 AGATCGTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCC AGATAGTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCC < 41bp 1 0.143293683519267 1 0.0459640324115753 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 5 MVK ENSG00000110921 CDS Human protein_coding chr12:110029073 chr12:110029057 synonymous SNV . 0 hm6A_associated_SNPs_14604 2 Uncertain significance Hyperimmunoglobulin D with periodic fever RCV000312723.1
1438 chr12 110029057 110029057 1 + C A rs34975996 110029073 + 110029053 110029093 41 AGATCGTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCC AGATAGTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCC < 41bp 1 0.143293683519267 1 0.0459640324115753 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 5 MVK ENSG00000110921 CDS Human protein_coding chr12:110029073 chr12:110029057 synonymous SNV . 0 hm6A_associated_SNPs_14604 2 Uncertain significance Mevalonic aciduria RCV000337228.1
1439 chr12 110780107 110780107 1 + G A rs56243033 110780117 + 110780097 110780137 41 CTGGCACTGCGGTGGCTAAAACCGCCTCTGAGATGGTCCTG CTGGCACTGCAGTGGCTAAAACCGCCTCTGAGATGGTCCTG < 41bp 1 0.0994606630157015 1 0.908831000328064 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 11 ATP2A2 ENSG00000174437 CDS Human protein_coding chr12:110780117 chr12:110780107 synonymous SNV . 0 hm6A_associated_SNPs_14616 1 Benign Keratosis follicularis RCV000292724.1
1440 chr12 112888239 112888239 1 + C T rs61736914 112888233 + 112888213 112888253 41 TTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGA TTGGTCCAGTATTACATGGAACATCATGGGCAATTAAAAGA < 41bp 1 0.769461017603797 1 0.806722104549408 experiment 0.461077964792406 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 27 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112888233 chr12:112888239 synonymous SNV . 0 hm6A_associated_SNPs_14633 6 other Noonan syndrome RCV000030387.4
1441 chr12 112888239 112888239 1 + C T rs61736914 112888233 + 112888213 112888253 41 TTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGA TTGGTCCAGTATTACATGGAACATCATGGGCAATTAAAAGA < 41bp 1 0.769461017603797 1 0.806722104549408 experiment 0.461077964792406 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 27 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112888233 chr12:112888239 synonymous SNV . 0 hm6A_associated_SNPs_14633 6 Benign not specified RCV000037642.8
1442 chr12 112888239 112888239 1 + C T rs61736914 112888233 + 112888213 112888253 41 TTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGA TTGGTCCAGTATTACATGGAACATCATGGGCAATTAAAAGA < 41bp 1 0.769461017603797 1 0.806722104549408 experiment 0.461077964792406 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 27 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112888233 chr12:112888239 synonymous SNV . 0 hm6A_associated_SNPs_14633 6 Benign Rasopathy RCV000149837.3
1443 chr12 112888239 112888239 1 + C T rs61736914 112888233 + 112888213 112888253 41 TTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGA TTGGTCCAGTATTACATGGAACATCATGGGCAATTAAAAGA < 41bp 1 0.769461017603797 1 0.806722104549408 experiment 0.461077964792406 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 27 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112888233 chr12:112888239 synonymous SNV . 0 hm6A_associated_SNPs_14633 6 Benign Cardiovascular phenotype RCV000250837.1
1444 chr12 112888239 112888239 1 + C T rs61736914 112888233 + 112888213 112888253 41 TTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGA TTGGTCCAGTATTACATGGAACATCATGGGCAATTAAAAGA < 41bp 1 0.769461017603797 1 0.806722104549408 experiment 0.461077964792406 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 27 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112888233 chr12:112888239 synonymous SNV . 0 hm6A_associated_SNPs_14633 6 Likely benign Noonan syndrome with multiple lentigines RCV000273664.1
1445 chr12 112888239 112888239 1 + C T rs61736914 112888233 + 112888213 112888253 41 TTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGA TTGGTCCAGTATTACATGGAACATCATGGGCAATTAAAAGA < 41bp 1 0.769461017603797 1 0.806722104549408 experiment 0.461077964792406 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 27 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112888233 chr12:112888239 synonymous SNV . 0 hm6A_associated_SNPs_14633 6 Likely benign Metachondromatosis RCV000356750.1
1446 chr12 112915755 112915755 1 + G A rs535800148 112915746 + 112915726 112915766 41 CCTGCAAAACACGGTGAATGACTTTTGGCGGATGGTGTTCC CCTGCAAAACACGGTGAATGACTTTTGGCAGATGGTGTTCC < 41bp 1 0.42787554077895 1 0.933163285255432 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915746 chr12:112915755 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_14634 1 Uncertain significance not specified RCV000159507.1
1447 chr12 112946639 112946639 1 + C T rs41307084 112946636 + 112946616 112946656 41 GGCTAAATGGGGATGAGGAGACACGGGTAGGACTTTCTTGG GGCTAAATGGGGATGAGGAGACATGGGTAGGACTTTCTTGG < 41bp 1 0.385661056000575 1 0.0409380197525024 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 24 PTPN11 ENSG00000179295 UTR3 Human protein_coding chr12:112946636 chr12:112946639 . . 0 hm6A_associated_SNPs_14638 3 Uncertain significance Noonan syndrome with multiple lentigines RCV000298931.1
1448 chr12 112946639 112946639 1 + C T rs41307084 112946636 + 112946616 112946656 41 GGCTAAATGGGGATGAGGAGACACGGGTAGGACTTTCTTGG GGCTAAATGGGGATGAGGAGACATGGGTAGGACTTTCTTGG < 41bp 1 0.385661056000575 1 0.0409380197525024 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 24 PTPN11 ENSG00000179295 UTR3 Human protein_coding chr12:112946636 chr12:112946639 . . 0 hm6A_associated_SNPs_14638 3 Uncertain significance Metachondromatosis RCV000338505.1
1449 chr12 112946639 112946639 1 + C T rs41307084 112946636 + 112946616 112946656 41 GGCTAAATGGGGATGAGGAGACACGGGTAGGACTTTCTTGG GGCTAAATGGGGATGAGGAGACATGGGTAGGACTTTCTTGG < 41bp 1 0.385661056000575 1 0.0409380197525024 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 24 PTPN11 ENSG00000179295 UTR3 Human protein_coding chr12:112946636 chr12:112946639 . . 0 hm6A_associated_SNPs_14638 3 Uncertain significance Noonan syndrome RCV000407473.1
1450 chr12 121175221 121175221 1 + G A rs2239686 121175238 + 121175218 121175258 41 CACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCC CACACCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCC < 41bp 1 0.441918072798075 1 0.932901918888092 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control 4 ACADS ENSG00000122971 CDS Human protein_coding chr12:121175238 chr12:121175221 synonymous SNV . 0 hm6A_associated_SNPs_14713 2 Benign not specified RCV000178020.2
1451 chr12 121175221 121175221 1 + G A rs2239686 121175238 + 121175218 121175258 41 CACGCCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCC CACACCTTTCACCAGTGGTGACAAAATTGGCTGCTTTGCCC < 41bp 1 0.441918072798075 1 0.932901918888092 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control 4 ACADS ENSG00000122971 CDS Human protein_coding chr12:121175238 chr12:121175221 synonymous SNV . 0 hm6A_associated_SNPs_14713 2 Likely benign Deficiency of butyryl-CoA dehydrogenase RCV000324067.1
1452 chr12 121177366 121177366 1 + G A rs2229534 121177356 + 121177336 121177376 41 CCGGCGGGGGCTCCCTGGGGACCCCAGATGGGCTCAGTGCT CCGGCGGGGGCTCCCTGGGGACCCCAGATGAGCTCAGTGCT < 41bp 1 0.477215058073087 1 0.973999321460724 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 31 ACADS ENSG00000122971 UTR3 Human protein_coding chr12:121177356 chr12:121177366 . . 0 hm6A_associated_SNPs_14715 1 Likely benign Deficiency of butyryl-CoA dehydrogenase RCV000327198.1
1453 chr12 123741706 123741706 1 + C A rs11554169 123741693 + 123741673 123741713 41 AAAAGAAATATTTTTGATGAACTTAAAAGACAACAAATTTA AAAAGAAATATTTTTGATGAACTTAAAAGACAAAAAATTTA < 41bp 1 0.723857401043833 1 0.986048102378845 experiment 0.552285197912334 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 34 C12orf65 ENSG00000235423 ncRNA_intronic Human antisense chr12:123741693 chr12:123741706 . . 0 hm6A_associated_SNPs_14769 1 Likely benign Combined oxidative phosphorylation deficiency RCV000386593.1
1454 chr12 123741706 123741706 1 + C A rs11554169 123741702 + 123741682 123741722 41 ATTTTTGATGAACTTAAAAGACAACAAATTTATTTAAATGG ATTTTTGATGAACTTAAAAGACAAAAAATTTATTTAAATGG < 41bp 1 0.772351106414966 1 0.954982161521912 experiment 0.455297787170068 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 25 C12orf65 ENSG00000235423 ncRNA_intronic Human antisense chr12:123741702 chr12:123741706 . . 0 hm6A_associated_SNPs_14770 1 Likely benign Combined oxidative phosphorylation deficiency RCV000386593.1
1455 chr12 123742061 123742061 1 + G A rs1969355 123742064 + 123742044 123742084 41 CACCTGGGTGACAGAGCGAGACCCCATCTCAAAAAAAAAAT CACCTGGGTGACAGAGCAAGACCCCATCTCAAAAAAAAAAT < 41bp 1 0.272183628094018 1 0.0415386855602264 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 18 C12orf65 ENSG00000235423 ncRNA_intronic Human antisense chr12:123742064 chr12:123742061 . . 0 hm6A_associated_SNPs_14771 1 Benign Combined oxidative phosphorylation deficiency RCV000339566.1
1456 chr12 123742093 123742093 1 + T G rs1533703 123742088 + 123742068 123742108 41 CATCTCAAAAAAAAAATAAAACTAGTTCAAGTGCAATGACA CATCTCAAAAAAAAAATAAAACTAGGTCAAGTGCAATGACA < 41bp 1 0.603771329982802 1 0.599020540714264 experiment 0.792457340034396 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 26 C12orf65 ENSG00000235423 ncRNA_intronic Human antisense chr12:123742088 chr12:123742093 . . 0 hm6A_associated_SNPs_14772 1 Benign Combined oxidative phosphorylation deficiency RCV000398841.1
1457 chr12 123742093 123742093 1 + T G rs1533703 123742106 + 123742086 123742126 41 AAACTAGTTCAAGTGCAATGACACACGCCTATAATCCCAGC AAACTAGGTCAAGTGCAATGACACACGCCTATAATCCCAGC < 41bp 1 0.556458408952606 1 0.39596751332283 experiment 0.887083182094789 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 8 C12orf65 ENSG00000235423 ncRNA_intronic Human antisense chr12:123742106 chr12:123742093 . . 0 hm6A_associated_SNPs_14773 1 Benign Combined oxidative phosphorylation deficiency RCV000398841.1
1458 chr12 124156637 124156637 1 + C T rs73416301 124156636 + 124156616 124156656 41 TCCGACGTGTGGAGTGCTGAACAATGAGACGGAAGACTGGA TCCGACGTGTGGAGTGCTGAATAATGAGACGGAAGACTGGA Direct Loss 1 0.712500208696496 1 0.680788993835449 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 22 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124156636 chr12:124156637 synonymous SNV . 0 hm6A_associated_SNPs_14791 5 other not specified RCV000114229.4
1459 chr12 124156637 124156637 1 + C T rs73416301 124156636 + 124156616 124156656 41 TCCGACGTGTGGAGTGCTGAACAATGAGACGGAAGACTGGA TCCGACGTGTGGAGTGCTGAATAATGAGACGGAAGACTGGA Direct Loss 1 0.712500208696496 1 0.680788993835449 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 22 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124156636 chr12:124156637 synonymous SNV . 0 hm6A_associated_SNPs_14791 5 Likely benign Meckel-Gruber syndrome RCV000359334.1
1460 chr12 124156637 124156637 1 + C T rs73416301 124156636 + 124156616 124156656 41 TCCGACGTGTGGAGTGCTGAACAATGAGACGGAAGACTGGA TCCGACGTGTGGAGTGCTGAATAATGAGACGGAAGACTGGA Direct Loss 1 0.712500208696496 1 0.680788993835449 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 22 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124156636 chr12:124156637 synonymous SNV . 0 hm6A_associated_SNPs_14791 5 Likely benign Joubert syndrome RCV000400592.1
1461 chr12 124156637 124156637 1 + C T rs73416301 124156636 + 124156616 124156656 41 TCCGACGTGTGGAGTGCTGAACAATGAGACGGAAGACTGGA TCCGACGTGTGGAGTGCTGAATAATGAGACGGAAGACTGGA Direct Loss 1 0.712500208696496 1 0.680788993835449 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 22 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124156636 chr12:124156637 synonymous SNV . 0 hm6A_associated_SNPs_14791 5 Benign Joubert syndrome RCV000470944.1
1462 chr12 124156637 124156637 1 + C T rs73416301 124156636 + 124156616 124156656 41 TCCGACGTGTGGAGTGCTGAACAATGAGACGGAAGACTGGA TCCGACGTGTGGAGTGCTGAATAATGAGACGGAAGACTGGA Direct Loss 1 0.712500208696496 1 0.680788993835449 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 22 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124156636 chr12:124156637 synonymous SNV . 0 hm6A_associated_SNPs_14791 5 Benign Meckel-Gruber syndrome RCV000470944.1
1463 chr12 124171417 124171417 1 + G A rs79251326 124171401 + 124171381 124171421 41 AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACGGTCC AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACAGTCC < 41bp 1 0.553465402019908 1 0.061013400554657 experiment 0.893069195960184 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 37 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124171401 chr12:124171417 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14792 3 other not specified RCV000114230.3
1464 chr12 124171417 124171417 1 + G A rs79251326 124171401 + 124171381 124171421 41 AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACGGTCC AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACAGTCC < 41bp 1 0.553465402019908 1 0.061013400554657 experiment 0.893069195960184 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 37 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124171401 chr12:124171417 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14792 3 Benign Joubert syndrome RCV000204827.3
1465 chr12 124171417 124171417 1 + G A rs79251326 124171401 + 124171381 124171421 41 AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACGGTCC AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACAGTCC < 41bp 1 0.553465402019908 1 0.061013400554657 experiment 0.893069195960184 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 37 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124171401 chr12:124171417 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14792 3 Benign Meckel-Gruber syndrome RCV000204827.3
1466 chr12 124220123 124220123 1 + G A rs73420336 124220107 + 124220087 124220127 41 CCACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGG CCACGTGTACCCCTATCCAAACACAGCCGAGGAGCGAAGGG < 41bp 1 0.556310923193502 1 0.456269979476929 experiment 0.887378153612997 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 37 ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124220107 chr12:124220123 synonymous SNV . 0 hm6A_associated_SNPs_14794 2 Likely benign Cutis laxa, recessive RCV000368021.1
1467 chr12 124220123 124220123 1 + G A rs73420336 124220107 + 124220087 124220127 41 CCACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGG CCACGTGTACCCCTATCCAAACACAGCCGAGGAGCGAAGGG < 41bp 1 0.556310923193502 1 0.456269979476929 experiment 0.887378153612997 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 37 ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124220107 chr12:124220123 synonymous SNV . 0 hm6A_associated_SNPs_14794 2 Benign not specified RCV000424244.1
1468 chr12 124221796 124221796 1 + G A rs74922060 124221790 + 124221770 124221810 41 TCCCGAGGCGGATCTGCAGGACCTGCGCCGGGCACTGGAGG TCCCGAGGCGGATCTGCAGGACCTGCACCGGGCACTGGAGG < 41bp 1 0.134489490763033 1 0.905364871025085 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 27 ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124221790 chr12:124221796 nonsynonymous SNV 0.261 5 hm6A_associated_SNPs_14795 3 Benign not specified RCV000081543.5
1469 chr12 124221796 124221796 1 + G A rs74922060 124221790 + 124221770 124221810 41 TCCCGAGGCGGATCTGCAGGACCTGCGCCGGGCACTGGAGG TCCCGAGGCGGATCTGCAGGACCTGCACCGGGCACTGGAGG < 41bp 1 0.134489490763033 1 0.905364871025085 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 27 ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124221790 chr12:124221796 nonsynonymous SNV 0.261 5 hm6A_associated_SNPs_14795 3 Benign not provided RCV000224904.1
1470 chr12 124221796 124221796 1 + G A rs74922060 124221790 + 124221770 124221810 41 TCCCGAGGCGGATCTGCAGGACCTGCGCCGGGCACTGGAGG TCCCGAGGCGGATCTGCAGGACCTGCACCGGGCACTGGAGG < 41bp 1 0.134489490763033 1 0.905364871025085 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 27 ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124221790 chr12:124221796 nonsynonymous SNV 0.261 5 hm6A_associated_SNPs_14795 3 Likely benign Cutis laxa, recessive RCV000362304.1
1471 chr12 124233269 124233269 1 + G A rs73420342 124233283 + 124233263 124233303 41 CATTCTGATTGAATTTATTAACATGTTTTTATTCCCAGCCA CATTCTAATTGAATTTATTAACATGTTTTTATTCCCAGCCA < 41bp 1 0.752313914299966 1 0.561685264110565 experiment 0.495372171400069 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 7 ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124233283 chr12:124233269 synonymous SNV . 0 hm6A_associated_SNPs_14796 2 Likely benign Cutis laxa, recessive RCV000365310.1
1472 chr12 124233269 124233269 1 + G A rs73420342 124233283 + 124233263 124233303 41 CATTCTGATTGAATTTATTAACATGTTTTTATTCCCAGCCA CATTCTAATTGAATTTATTAACATGTTTTTATTCCCAGCCA < 41bp 1 0.752313914299966 1 0.561685264110565 experiment 0.495372171400069 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 7 ATP6V0A2 ENSG00000185344 CDS Human protein_coding chr12:124233283 chr12:124233269 synonymous SNV . 0 hm6A_associated_SNPs_14796 2 Benign not specified RCV000434512.1
1473 chr12 132425913 132425913 1 + G A rs142044204 132425933 + 132425913 132425953 41 GTTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAGA ATTTGCCTTTGCGCACAAGGACCGGGACGTTCAGGATGAGA < 41bp 1 0.758850106322895 1 0.979295372962952 experiment 0.48229978735421 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 1 PUS1 ENSG00000177192 CDS Human protein_coding chr12:132425933 chr12:132425913 synonymous SNV . 0 hm6A_associated_SNPs_14822 1 Benign not specified RCV000200133.1
1474 chr12 132428147 132428147 1 + C T rs116003934 132428127 + 132428107 132428147 41 TGAAGGGGACGGAGACACTGACTGAGGCGATGGGAGCTGCC TGAAGGGGACGGAGACACTGACTGAGGCGATGGGAGCTGCT < 41bp 1 0.510871003687488 1 0.913103342056274 experiment 0.978257992625024 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 41 PUS1 ENSG00000177192 UTR3 Human protein_coding chr12:132428127 chr12:132428147 . . 0 hm6A_associated_SNPs_14823 2 Benign not specified RCV000127670.1
1475 chr12 132428147 132428147 1 + C T rs116003934 132428127 + 132428107 132428147 41 TGAAGGGGACGGAGACACTGACTGAGGCGATGGGAGCTGCC TGAAGGGGACGGAGACACTGACTGAGGCGATGGGAGCTGCT < 41bp 1 0.510871003687488 1 0.913103342056274 experiment 0.978257992625024 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 41 PUS1 ENSG00000177192 UTR3 Human protein_coding chr12:132428127 chr12:132428147 . . 0 hm6A_associated_SNPs_14823 2 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000302009.1
1476 chr12 132428250 132428250 1 + C T rs117705819 132428268 + 132428248 132428288 41 GCCGGCGTTGTAACCTCAGGACCTTCCCTTGTAGGAACAGC GCTGGCGTTGTAACCTCAGGACCTTCCCTTGTAGGAACAGC < 41bp 1 0.384271700689149 1 0.654888033866882 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 3 PUS1 ENSG00000177192 UTR3 Human protein_coding chr12:132428268 chr12:132428250 . . 0 hm6A_associated_SNPs_14824 1 Likely benign Mitochondrial myopathy and sideroblastic anemia RCV000359066.1
1477 chr13 28197417 28197417 1 + C A rs8459 28197412 + 28197392 28197432 41 TTATGCAGTATACAAGGAGAACTGTCCTGTAGGATATTCTC TTATGCAGTATACAAGGAGAACTGTACTGTAGGATATTCTC < 41bp 1 0.678513657171336 1 0.969391942024231 experiment 0.642972685657328 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 26 POLR1D ENSG00000186184 UTR3 Human protein_coding chr13:28197412 chr13:28197417 . . 0 hm6A_associated_SNPs_14905 1 Likely benign Treacher Collins Syndrome, Dominant RCV000368993.1
1478 chr13 32906579 32906579 1 + A C rs11571640 32906588 + 32906568 32906608 41 AAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAAAA AAAATCTACAACAAGTAAGAACTAGCAAGACTAGGAAAAAA < 41bp 1 0.718477336509243 1 0.949314951896667 experiment 0.563045326981515 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906588 chr13:32906579 nonsynonymous SNV 0.144 2 hm6A_associated_SNPs_14923 6 other Breast-ovarian cancer, familial 2 RCV000031841.6
1479 chr13 32906579 32906579 1 + A C rs11571640 32906588 + 32906568 32906608 41 AAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAAAA AAAATCTACAACAAGTAAGAACTAGCAAGACTAGGAAAAAA < 41bp 1 0.718477336509243 1 0.949314951896667 experiment 0.563045326981515 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906588 chr13:32906579 nonsynonymous SNV 0.144 2 hm6A_associated_SNPs_14923 6 Uncertain significance not provided RCV000034472.1
1480 chr13 32906579 32906579 1 + A C rs11571640 32906588 + 32906568 32906608 41 AAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAAAA AAAATCTACAACAAGTAAGAACTAGCAAGACTAGGAAAAAA < 41bp 1 0.718477336509243 1 0.949314951896667 experiment 0.563045326981515 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906588 chr13:32906579 nonsynonymous SNV 0.144 2 hm6A_associated_SNPs_14923 6 Likely benign Hereditary breast and ovarian cancer syndrome RCV000045881.5
1481 chr13 32906579 32906579 1 + A C rs11571640 32906588 + 32906568 32906608 41 AAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAAAA AAAATCTACAACAAGTAAGAACTAGCAAGACTAGGAAAAAA < 41bp 1 0.718477336509243 1 0.949314951896667 experiment 0.563045326981515 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906588 chr13:32906579 nonsynonymous SNV 0.144 2 hm6A_associated_SNPs_14923 6 other not specified RCV000074565.7
1482 chr13 32906579 32906579 1 + A C rs11571640 32906588 + 32906568 32906608 41 AAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAAAA AAAATCTACAACAAGTAAGAACTAGCAAGACTAGGAAAAAA < 41bp 1 0.718477336509243 1 0.949314951896667 experiment 0.563045326981515 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906588 chr13:32906579 nonsynonymous SNV 0.144 2 hm6A_associated_SNPs_14923 6 Benign Hereditary cancer-predisposing syndrome RCV000131239.3
1483 chr13 32906579 32906579 1 + A C rs11571640 32906588 + 32906568 32906608 41 AAAATCTACAAAAAGTAAGAACTAGCAAGACTAGGAAAAAA AAAATCTACAACAAGTAAGAACTAGCAAGACTAGGAAAAAA < 41bp 1 0.718477336509243 1 0.949314951896667 experiment 0.563045326981515 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906588 chr13:32906579 nonsynonymous SNV 0.144 2 hm6A_associated_SNPs_14923 6 Uncertain significance Neoplasm of the breast RCV000414578.1
1484 chr13 32906890 32906890 1 + A G rs34355306 32906895 + 32906875 32906915 41 CCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACA CCAAAATATTTCAGAGAAAGACCTATTAGACACAGAGAACA < 41bp 1 0.683889476308773 1 0.970677316188812 experiment 0.632221047382454 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906895 chr13:32906890 synonymous SNV . 0 hm6A_associated_SNPs_14924 5 Benign Breast-ovarian cancer, familial 2 RCV000112901.4
1485 chr13 32906890 32906890 1 + A G rs34355306 32906895 + 32906875 32906915 41 CCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACA CCAAAATATTTCAGAGAAAGACCTATTAGACACAGAGAACA < 41bp 1 0.683889476308773 1 0.970677316188812 experiment 0.632221047382454 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906895 chr13:32906890 synonymous SNV . 0 hm6A_associated_SNPs_14924 5 Benign Hereditary cancer-predisposing syndrome RCV000162729.2
1486 chr13 32906890 32906890 1 + A G rs34355306 32906895 + 32906875 32906915 41 CCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACA CCAAAATATTTCAGAGAAAGACCTATTAGACACAGAGAACA < 41bp 1 0.683889476308773 1 0.970677316188812 experiment 0.632221047382454 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906895 chr13:32906890 synonymous SNV . 0 hm6A_associated_SNPs_14924 5 Benign Hereditary breast and ovarian cancer syndrome RCV000167779.5
1487 chr13 32906890 32906890 1 + A G rs34355306 32906895 + 32906875 32906915 41 CCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACA CCAAAATATTTCAGAGAAAGACCTATTAGACACAGAGAACA < 41bp 1 0.683889476308773 1 0.970677316188812 experiment 0.632221047382454 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906895 chr13:32906890 synonymous SNV . 0 hm6A_associated_SNPs_14924 5 Benign not specified RCV000173633.2
1488 chr13 32906890 32906890 1 + A G rs34355306 32906895 + 32906875 32906915 41 CCAAAATATTTCAGAAAAAGACCTATTAGACACAGAGAACA CCAAAATATTTCAGAGAAAGACCTATTAGACACAGAGAACA < 41bp 1 0.683889476308773 1 0.970677316188812 experiment 0.632221047382454 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32906895 chr13:32906890 synonymous SNV . 0 hm6A_associated_SNPs_14924 5 Benign Familial cancer of breast RCV000458106.1
1489 chr13 32911418 32911418 1 + T A rs144862123 32911413 + 32911393 32911433 41 AGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATA AGGTCAAGATTTAAAATCGGACATCACCTTGAATATAGATA < 41bp 1 0.781242981526827 1 0.959876537322998 experiment 0.437514036946347 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 26 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911413 chr13:32911418 nonsynonymous SNV 0.008 0 hm6A_associated_SNPs_14925 1 Likely benign not specified RCV000503409.1
1490 chr13 32911419 32911419 1 + C T rs11571656 32911413 + 32911393 32911433 41 AGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATA AGGTCAAGATTTAAAATCGGACATCTTCTTGAATATAGATA < 41bp 1 0.782957482496305 1 0.950087070465088 experiment 0.434085035007391 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 27 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911413 chr13:32911419 nonsynonymous SNV 0.019 1 hm6A_associated_SNPs_14926 1 Likely benign not specified RCV000500420.1
1491 chr13 32912750 32912750 1 + G T rs28897727 32912759 + 32912739 32912779 41 AAAATATAAAAGATTTTGAGACTTCTGATACATTTTTTCAG AAAATATAAAATATTTTGAGACTTCTGATACATTTTTTCAG < 41bp 1 0.600166096194884 1 0.970199346542358 experiment 0.799667807610232 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32912759 chr13:32912750 nonsynonymous SNV 0.710 1 hm6A_associated_SNPs_14927 5 other not provided RCV000034440.4
1492 chr13 32912750 32912750 1 + G T rs28897727 32912759 + 32912739 32912779 41 AAAATATAAAAGATTTTGAGACTTCTGATACATTTTTTCAG AAAATATAAAATATTTTGAGACTTCTGATACATTTTTTCAG < 41bp 1 0.600166096194884 1 0.970199346542358 experiment 0.799667807610232 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32912759 chr13:32912750 nonsynonymous SNV 0.710 1 hm6A_associated_SNPs_14927 5 other Hereditary breast and ovarian cancer syndrome RCV000044377.8
1493 chr13 32912750 32912750 1 + G T rs28897727 32912759 + 32912739 32912779 41 AAAATATAAAAGATTTTGAGACTTCTGATACATTTTTTCAG AAAATATAAAATATTTTGAGACTTCTGATACATTTTTTCAG < 41bp 1 0.600166096194884 1 0.970199346542358 experiment 0.799667807610232 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32912759 chr13:32912750 nonsynonymous SNV 0.710 1 hm6A_associated_SNPs_14927 5 Benign Breast-ovarian cancer, familial 2 RCV000083103.7
1494 chr13 32912750 32912750 1 + G T rs28897727 32912759 + 32912739 32912779 41 AAAATATAAAAGATTTTGAGACTTCTGATACATTTTTTCAG AAAATATAAAATATTTTGAGACTTCTGATACATTTTTTCAG < 41bp 1 0.600166096194884 1 0.970199346542358 experiment 0.799667807610232 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32912759 chr13:32912750 nonsynonymous SNV 0.710 1 hm6A_associated_SNPs_14927 5 Benign not specified RCV000120339.6
1495 chr13 32912750 32912750 1 + G T rs28897727 32912759 + 32912739 32912779 41 AAAATATAAAAGATTTTGAGACTTCTGATACATTTTTTCAG AAAATATAAAATATTTTGAGACTTCTGATACATTTTTTCAG < 41bp 1 0.600166096194884 1 0.970199346542358 experiment 0.799667807610232 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32912759 chr13:32912750 nonsynonymous SNV 0.710 1 hm6A_associated_SNPs_14927 5 other Hereditary cancer-predisposing syndrome RCV000162541.3
1496 chr13 32913055 32913055 1 + A C rs206075 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA CGTGATGAAAAGATCAAAGAACCTACTCTCTTGGGTTTTCA < 41bp 1 0.531235146531557 1 0.976692914962769 experiment 0.937529706936886 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913055 synonymous SNV . 0 hm6A_associated_SNPs_14928 1 Benign Breast-ovarian cancer, familial 2 RCV000113321.1
1497 chr13 32914904 32914904 1 + G T rs11571659 32914896 + 32914876 32914916 41 AGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT AGAATTTAAATTATCAAATAACTTAAATTTTGAAGGTGGTT < 41bp 1 0.189134825671117 1 0.921373009681702 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914896 chr13:32914904 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14930 6 other Hereditary breast and ovarian cancer syndrome RCV000044938.9
1498 chr13 32914904 32914904 1 + G T rs11571659 32914896 + 32914876 32914916 41 AGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT AGAATTTAAATTATCAAATAACTTAAATTTTGAAGGTGGTT < 41bp 1 0.189134825671117 1 0.921373009681702 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914896 chr13:32914904 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14930 6 other Breast-ovarian cancer, familial 2 RCV000077373.6
1499 chr13 32914904 32914904 1 + G T rs11571659 32914896 + 32914876 32914916 41 AGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT AGAATTTAAATTATCAAATAACTTAAATTTTGAAGGTGGTT < 41bp 1 0.189134825671117 1 0.921373009681702 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914896 chr13:32914904 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14930 6 Benign not specified RCV000120342.3
1500 chr13 32914904 32914904 1 + G T rs11571659 32914896 + 32914876 32914916 41 AGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT AGAATTTAAATTATCAAATAACTTAAATTTTGAAGGTGGTT < 41bp 1 0.189134825671117 1 0.921373009681702 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914896 chr13:32914904 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14930 6 Benign Hereditary cancer-predisposing syndrome RCV000128955.2
1501 chr13 32914904 32914904 1 + G T rs11571659 32914896 + 32914876 32914916 41 AGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT AGAATTTAAATTATCAAATAACTTAAATTTTGAAGGTGGTT < 41bp 1 0.189134825671117 1 0.921373009681702 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914896 chr13:32914904 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14930 6 Likely benign Fanconi anemia RCV000311226.1
1502 chr13 32914904 32914904 1 + G T rs11571659 32914896 + 32914876 32914916 41 AGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT AGAATTTAAATTATCAAATAACTTAAATTTTGAAGGTGGTT < 41bp 1 0.189134825671117 1 0.921373009681702 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914896 chr13:32914904 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_14930 6 Uncertain significance Neoplasm of the breast RCV000414271.1
1503 chr13 32972626 32972626 1 + A T rs11571833 32972617 + 32972597 32972637 41 AACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAAT AACTGAATTCTCCTCAGATGACTCCATTTTAAAAATTCAAT < 41bp 1 0.776685203865403 1 0.986017227172852 experiment 0.446629592269194 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32972617 chr13:32972626 stopgain 0.030 0 hm6A_associated_SNPs_14931 5 Benign Breast-ovarian cancer, familial 2 RCV000031849.14
1504 chr13 32972626 32972626 1 + A T rs11571833 32972617 + 32972597 32972637 41 AACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAAT AACTGAATTCTCCTCAGATGACTCCATTTTAAAAATTCAAT < 41bp 1 0.776685203865403 1 0.986017227172852 experiment 0.446629592269194 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32972617 chr13:32972626 stopgain 0.030 0 hm6A_associated_SNPs_14931 5 Benign not provided RCV000034474.4
1505 chr13 32972626 32972626 1 + A T rs11571833 32972617 + 32972597 32972637 41 AACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAAT AACTGAATTCTCCTCAGATGACTCCATTTTAAAAATTCAAT < 41bp 1 0.776685203865403 1 0.986017227172852 experiment 0.446629592269194 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32972617 chr13:32972626 stopgain 0.030 0 hm6A_associated_SNPs_14931 5 other Hereditary breast and ovarian cancer syndrome RCV000045926.7
1506 chr13 32972626 32972626 1 + A T rs11571833 32972617 + 32972597 32972637 41 AACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAAT AACTGAATTCTCCTCAGATGACTCCATTTTAAAAATTCAAT < 41bp 1 0.776685203865403 1 0.986017227172852 experiment 0.446629592269194 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32972617 chr13:32972626 stopgain 0.030 0 hm6A_associated_SNPs_14931 5 other not specified RCV000120374.4
1507 chr13 32972626 32972626 1 + A T rs11571833 32972617 + 32972597 32972637 41 AACTGAATTCTCCTCAGATGACTCCATTTAAAAAATTCAAT AACTGAATTCTCCTCAGATGACTCCATTTTAAAAATTCAAT < 41bp 1 0.776685203865403 1 0.986017227172852 experiment 0.446629592269194 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32972617 chr13:32972626 stopgain 0.030 0 hm6A_associated_SNPs_14931 5 Benign Hereditary cancer-predisposing syndrome RCV000128910.3
1508 chr13 33635463 33635463 1 + T C rs648202 33635483 + 33635463 33635503 41 TGAGAGAGTTTTGGAATTTGACATTGGCTGGCTGGCTGAGC CGAGAGAGTTTTGGAATTTGACATTGGCTGGCTGGCTGAGC < 41bp 1 0.663126296822651 1 0.980881452560425 experiment 0.673747406354697 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 1 KL ENSG00000133116 CDS Human protein_coding chr13:33635483 chr13:33635463 synonymous SNV . 0 hm6A_associated_SNPs_14932 1 Benign Tumoral calcinosis, familial, hyperphosphatemic RCV000294071.1
1509 chr13 37399630 37399630 1 + A G rs139675642 37399648 + 37399628 37399668 41 GCAAGACCTACTCTTTTAGAACAAGTGTTAAATCAAAAAAG GCGAGACCTACTCTTTTAGAACAAGTGTTAAATCAAAAAAG < 41bp 1 0.628502095951921 1 0.752528667449951 experiment 0.742995808096158 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 3 RFXAP ENSG00000133111 CDS Human protein_coding chr13:37399648 chr13:37399630 synonymous SNV . 0 hm6A_associated_SNPs_14937 1 Uncertain significance SCID due to absent class II HLA antigens RCV000369780.1
1510 chr13 39264083 39264083 1 + C G rs7329939 39264100 + 39264080 39264120 41 ACTCTCACTCAGGCACCCAAACATGGCCACATGAGAGTGTC ACTGTCACTCAGGCACCCAAACATGGCCACATGAGAGTGTC < 41bp 1 0.463092337696311 1 0.97665810585022 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 4 FREM2 ENSG00000150893 CDS Human protein_coding chr13:39264100 chr13:39264083 nonsynonymous SNV 0.995 1 hm6A_associated_SNPs_14943 1 Likely benign Cryptophthalmos syndrome RCV000332528.1
1511 chr13 41373415 41373415 1 + G A rs369201060 41373433 + 41373413 41373453 41 GCGGAAAGTGGCTGGATTGGACAAGCAGGCAAAGCTGAGGT GCAGAAAGTGGCTGGATTGGACAAGCAGGCAAAGCTGAGGT < 41bp 1 0.623277363377759 1 0.990844011306763 experiment 0.753445273244482 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 3 SLC25A15 ENSG00000102743 CDS Human protein_coding chr13:41373433 chr13:41373415 nonsynonymous SNV 0.021 1 hm6A_associated_SNPs_14949 1 Uncertain significance Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000367821.1
1512 chr13 41384156 41384156 1 + A G rs9549293 41384136 + 41384116 41384156 41 CACTTGTACATGCAATTTGGACAGTTATGTGTTGAGGGAAA CACTTGTACATGCAATTTGGACAGTTATGTGTTGAGGGAAG < 41bp 1 0.546107322852243 1 0.597393155097961 experiment 0.907785354295514 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 41 TPTE2P5 ENSG00000102743 UTR3 Human protein_coding chr13:41384136 chr13:41384156 . . 0 hm6A_associated_SNPs_14950 1 Benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000372205.1
1513 chr13 41385297 41385297 1 + A G rs113342797 41385290 + 41385270 41385310 41 GTCAGTAAGTCTTAATGATGACTGTATATGTGATATGAGTT GTCAGTAAGTCTTAATGATGACTGTATGTGTGATATGAGTT < 41bp 1 0.0796333312023457 1 0.0462151169776917 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 28 TPTE2P5 ENSG00000207652 downstream Human miRNA chr13:41385290 chr13:41385297 . . 0 hm6A_associated_SNPs_14951 1 Likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000379525.1
1514 chr13 41385429 41385429 1 + A G rs59670947 41385427 + 41385407 41385447 41 ACAAGGTCAGGAGTTCGAGAACAGCCTGACCAACATGGTGA ACAAGGTCAGGAGTTCGAGAACGGCCTGACCAACATGGTGA Direct Loss 1 0.0595632876755033 1 0.0102212727069855 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 23 TPTE2P5 ENSG00000207652 downstream Human miRNA chr13:41385427 chr13:41385429 . . 0 hm6A_associated_SNPs_14953 1 Likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000317321.1
1515 chr13 41385444 41385444 1 + G T rs149457069 41385427 + 41385407 41385447 41 ACAAGGTCAGGAGTTCGAGAACAGCCTGACCAACATGGTGA ACAAGGTCAGGAGTTCGAGAACAGCCTGACCAACATGTTGA < 41bp 1 0.0846055542717992 1 0.00915950536727905 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 38 TPTE2P5 ENSG00000207652 downstream Human miRNA chr13:41385427 chr13:41385444 . . 0 hm6A_associated_SNPs_14954 1 Likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000374164.1
1516 chr13 41385748 41385748 1 + G A rs114817943 41385753 + 41385733 41385773 41 CCCCATAGACTTGGGGATGGACAGCTGTTCTTTGGCCATAT CCCCATAGACTTGGGAATGGACAGCTGTTCTTTGGCCATAT < 41bp 1 0.365145378149107 1 0.123102992773056 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 16 TPTE2P5 ENSG00000207652 downstream Human miRNA chr13:41385753 chr13:41385748 . . 0 hm6A_associated_SNPs_14955 1 Likely benign Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome RCV000394910.1
1517 chr13 48955516 48955516 1 + A G rs143948310 48955511 + 48955491 48955531 41 TCAAAGCAGAAGGCAACTTGACAAGAGAAATGATAAAACAT TCAAAGCAGAAGGCAACTTGACAAGGGAAATGATAAAACAT < 41bp 1 0.756533851264495 1 0.494865208864212 experiment 0.48693229747101 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 RB1 ENSG00000139687 CDS Human protein_coding chr13:48955511 chr13:48955516 synonymous SNV . 0 hm6A_associated_SNPs_14984 1 Benign Retinoblastoma RCV000459478.1
1518 chr13 49055171 49055171 1 + C G rs4151633 49055154 + 49055134 49055174 41 TAATTTTACTCCATAAACAGACTGTTAATTATAGGAGCCTT TAATTTTACTCCATAAACAGACTGTTAATTATAGGAGGCTT < 41bp 1 0.198641424329964 1 0.851102888584137 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 38 RB1 ENSG00000139687 UTR3 Human protein_coding chr13:49055154 chr13:49055171 . . 0 hm6A_associated_SNPs_14986 1 Likely benign Retinoblastoma RCV000397332.1
1519 chr13 51530530 51530530 1 + G T rs144408326 51530540 + 51530520 51530560 41 GAAGGCTTTGGCTAAAGTTGACAAGAGTGGAATGAAAAGTA GAAGGCTTTGTCTAAAGTTGACAAGAGTGGAATGAAAAGTA < 41bp 1 0.787435778257989 1 0.0181710422039032 experiment 0.425128443484021 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 11 RNASEH2B ENSG00000136104 CDS Human protein_coding chr13:51530540 chr13:51530530 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_14999 2 Likely benign Aicardi Goutieres syndrome RCV000272422.1
1520 chr13 51530530 51530530 1 + G T rs144408326 51530540 + 51530520 51530560 41 GAAGGCTTTGGCTAAAGTTGACAAGAGTGGAATGAAAAGTA GAAGGCTTTGTCTAAAGTTGACAAGAGTGGAATGAAAAGTA < 41bp 1 0.787435778257989 1 0.0181710422039032 experiment 0.425128443484021 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 11 RNASEH2B ENSG00000136104 CDS Human protein_coding chr13:51530540 chr13:51530530 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_14999 2 Likely benign not provided RCV000426202.1
1521 chr13 52598898 52598898 1 + T G rs143967675 52598880 + 52598860 52598900 41 GAGTCACCTCCTTCGCTTAAACTTGTCCTCATTGGAGGTTG GAGTCACCTCCTTCGCTTAAACTTGTCCTCATTGGAGGGTG < 41bp 1 0.696972616688213 1 0.786502957344055 experiment 0.606054766623574 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 39 ALG11 ENSG00000253710 CDS Human protein_coding chr13:52598880 chr13:52598898 synonymous SNV . 0 hm6A_associated_SNPs_15004 1 Likely benign not specified RCV000434618.1
1522 chr13 52598898 52598898 1 + T G rs143967675 52598906 + 52598886 52598926 41 CCTCATTGGAGGTTGTCGTAACAAAGATGATGAACTTAGGG CCTCATTGGAGGGTGTCGTAACAAAGATGATGAACTTAGGG < 41bp 1 0.797086106818112 1 0.718137502670288 experiment 0.405827786363777 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 13 ALG11 ENSG00000253710 CDS Human protein_coding chr13:52598906 chr13:52598898 synonymous SNV . 0 hm6A_associated_SNPs_15005 1 Likely benign not specified RCV000434618.1
1523 chr13 77569289 77569289 1 + G A rs138110438 77569296 + 77569276 77569316 41 AGTTATGGAGGGTGATGATGACATTGAAGTTTTTCGATTAC AGTTATGGAGGGTAATGATGACATTGAAGTTTTTCGATTAC < 41bp 1 0.70889333840046 1 0.483725756406784 experiment 0.582213323199079 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77569296 chr13:77569289 nonsynonymous SNV 0.947 1 hm6A_associated_SNPs_15068 1 Uncertain significance not specified RCV000187052.2
1524 chr13 77570078 77570078 1 + T G rs34481987 77570076 + 77570056 77570096 41 TTGGATTCAGAAGTACATTAACTGGCAAGAACTACACAATG TTGGATTCAGAAGTACATTAACGGGCAAGAACTACACAATG Direct Loss 1 0.242761921535372 1 0.968193888664246 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570076 chr13:77570078 synonymous SNV . 0 hm6A_associated_SNPs_15069 3 other not specified RCV000116756.4
1525 chr13 77570078 77570078 1 + T G rs34481987 77570076 + 77570056 77570096 41 TTGGATTCAGAAGTACATTAACTGGCAAGAACTACACAATG TTGGATTCAGAAGTACATTAACGGGCAAGAACTACACAATG Direct Loss 1 0.242761921535372 1 0.968193888664246 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570076 chr13:77570078 synonymous SNV . 0 hm6A_associated_SNPs_15069 3 Likely benign Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive RCV000312256.1
1526 chr13 77570078 77570078 1 + T G rs34481987 77570076 + 77570056 77570096 41 TTGGATTCAGAAGTACATTAACTGGCAAGAACTACACAATG TTGGATTCAGAAGTACATTAACGGGCAAGAACTACACAATG Direct Loss 1 0.242761921535372 1 0.968193888664246 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570076 chr13:77570078 synonymous SNV . 0 hm6A_associated_SNPs_15069 3 Benign Neuronal ceroid lipofuscinosis RCV000476942.1
1527 chr13 77570078 77570078 1 + T G rs34481987 77570086 + 77570066 77570106 41 AAGTACATTAACTGGCAAGAACTACACAATGGAATGGTATG AAGTACATTAACGGGCAAGAACTACACAATGGAATGGTATG < 41bp 1 0.382143059928342 1 0.977809131145477 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570086 chr13:77570078 synonymous SNV . 0 hm6A_associated_SNPs_15070 3 other not specified RCV000116756.4
1528 chr13 77570078 77570078 1 + T G rs34481987 77570086 + 77570066 77570106 41 AAGTACATTAACTGGCAAGAACTACACAATGGAATGGTATG AAGTACATTAACGGGCAAGAACTACACAATGGAATGGTATG < 41bp 1 0.382143059928342 1 0.977809131145477 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570086 chr13:77570078 synonymous SNV . 0 hm6A_associated_SNPs_15070 3 Likely benign Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive RCV000312256.1
1529 chr13 77570078 77570078 1 + T G rs34481987 77570086 + 77570066 77570106 41 AAGTACATTAACTGGCAAGAACTACACAATGGAATGGTATG AAGTACATTAACGGGCAAGAACTACACAATGGAATGGTATG < 41bp 1 0.382143059928342 1 0.977809131145477 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570086 chr13:77570078 synonymous SNV . 0 hm6A_associated_SNPs_15070 3 Benign Neuronal ceroid lipofuscinosis RCV000476942.1
1530 chr13 77570121 77570121 1 + G C rs201464545 77570108 + 77570088 77570128 41 TACACAATGGAATGGTATGAACTTTTCCAACTTGGCAACTG TACACAATGGAATGGTATGAACTTTTCCAACTTCGCAACTG < 41bp 1 0.384307159452984 1 0.988501191139221 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 34 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77570108 chr13:77570121 nonsynonymous SNV 0.996 5 hm6A_associated_SNPs_15071 1 Uncertain significance not specified RCV000414655.1
1531 chr13 77574732 77574732 1 + G A rs116531784 77574739 + 77574719 77574759 41 GTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAA GTTCCAAATTTGTATTAAGGACCTTTAACAAGTTGGCTGAA < 41bp 1 0.798110339104358 1 0.908420860767365 experiment 0.403779321791284 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 14 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77574739 chr13:77574732 synonymous SNV . 0 hm6A_associated_SNPs_15072 2 other not specified RCV000178272.2
1532 chr13 77574732 77574732 1 + G A rs116531784 77574739 + 77574719 77574759 41 GTTCCAAATTTGTGTTAAGGACCTTTAACAAGTTGGCTGAA GTTCCAAATTTGTATTAAGGACCTTTAACAAGTTGGCTGAA < 41bp 1 0.798110339104358 1 0.908420860767365 experiment 0.403779321791284 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 14 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77574739 chr13:77574732 synonymous SNV . 0 hm6A_associated_SNPs_15072 2 Benign Neuronal ceroid lipofuscinosis RCV000461034.1
1533 chr13 77575825 77575825 1 + G A rs145949751 77575838 + 77575818 77575858 41 TGATAATGATTAATCAAAGAACAAATGTCATCCTTGATCTT TGATAATAATTAATCAAAGAACAAATGTCATCCTTGATCTT < 41bp 1 0.306166994211843 1 0.000384271144866943 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 8 CLN5 ENSG00000102805 UTR3 Human protein_coding chr13:77575838 chr13:77575825 . . 0 hm6A_associated_SNPs_15073 1 Uncertain significance Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive RCV000308848.1
1534 chr13 77576236 77576236 1 + A G rs80200123 77576239 + 77576219 77576259 41 TGGAGTAGATATCAGATAAAACAATTCACGTTTAATATGTA TGGAGTAGATATCAGATGAAACAATTCACGTTTAATATGTA < 41bp 1 0.0842765142215327 1 0.0516435503959656 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 18 CLN5 ENSG00000102805 UTR3 Human protein_coding chr13:77576239 chr13:77576236 . . 0 hm6A_associated_SNPs_15074 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive RCV000312250.1
1535 chr13 100635377 100635377 1 + C T rs1831992 100635364 + 100635344 100635384 41 AGTCTTCGCGCGCTCCGAGAACCTCAAGATCCACAAAAGGA AGTCTTCGCGCGCTCCGAGAACCTCAAGATCCATAAAAGGA < 41bp 1 0.652032933063536 1 0.995770931243896 experiment 0.695934133872927 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 34 ZIC2 ENSG00000043355 CDS Human protein_coding chr13:100635364 chr13:100635377 synonymous SNV . 0 hm6A_associated_SNPs_15135 1 Benign not specified RCV000081471.5
1536 chr13 100920951 100920951 1 + T C rs143838146 100920957 + 100920937 100920977 41 TTTCAGGTTCTAGGTGATAAACATGGGAATGCTTTATGGCT TTTCAGGTTCTAGGCGATAAACATGGGAATGCTTTATGGCT < 41bp 1 0.36310334089004 1 0.0162751376628876 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 PCCA ENSG00000175198 CDS Human protein_coding chr13:100920957 chr13:100920951 synonymous SNV . 0 hm6A_associated_SNPs_15137 1 Likely benign not specified RCV000431431.1
1537 chr13 101020758 101020758 1 + G T rs118169528 101020746 + 101020726 101020766 41 AATGCCTGTTATTAAACCAGACATAGCCAACTGGGAGCTCT AATGCCTGTTATTAAACCAGACATAGCCAACTTGGAGCTCT < 41bp 1 0.407074244523126 1 0.0349123179912567 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 33 PCCA ENSG00000175198 CDS Human protein_coding chr13:101020746 chr13:101020758 nonsynonymous SNV 0.826 1 hm6A_associated_SNPs_15139 1 other Propionic acidemia RCV000236220.3
1538 chr13 103514758 103514758 1 + G A rs143667470 103514764 + 103514744 103514784 41 AGCAGAAGAAATGCGTATAAACAGCTCCACCGAGAACAGTG AGCAGAAGAAATGCATATAAACAGCTCCACCGAGAACAGTG < 41bp 1 0.777592435807602 1 0.998624384403229 experiment 0.444815128384795 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 15 BIVM-ERCC5;ERCC5 ENSG00000134899;ENSG00000270181 CDS Human other chr13:103514764 chr13:103514758 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_15146 1 not provided not specified RCV000120866.1
1539 chr13 103514939 103514939 1 + C T rs4150316 103514921 + 103514901 103514941 41 ACAGACTCAGTTCCAAAAGAACAAATGTCACTTGTTCACGT ACAGACTCAGTTCCAAAAGAACAAATGTCACTTGTTCATGT < 41bp 1 0.794936749123659 1 0.99903666973114 experiment 0.410126501752681 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 39 BIVM-ERCC5;ERCC5 ENSG00000134899;ENSG00000270181 CDS Human other chr13:103514921 chr13:103514939 synonymous SNV . 0 hm6A_associated_SNPs_15147 2 Benign not specified RCV000252080.1
1540 chr13 103514939 103514939 1 + C T rs4150316 103514921 + 103514901 103514941 41 ACAGACTCAGTTCCAAAAGAACAAATGTCACTTGTTCACGT ACAGACTCAGTTCCAAAAGAACAAATGTCACTTGTTCATGT < 41bp 1 0.794936749123659 1 0.99903666973114 experiment 0.410126501752681 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 39 BIVM-ERCC5;ERCC5 ENSG00000134899;ENSG00000270181 CDS Human other chr13:103514921 chr13:103514939 synonymous SNV . 0 hm6A_associated_SNPs_15147 2 Likely benign Xeroderma pigmentosum RCV000390622.1
1541 chr13 111098226 111098226 1 + C T rs4103 111098214 + 111098194 111098234 41 GGCTATCAAGGGCCTGATGGACCCCGGGGACCCAAGGTGAG GGCTATCAAGGGCCTGATGGACCCCGGGGACCTAAGGTGAG < 41bp 1 0.0605179954506845 1 0.814590334892273 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111098214 chr13:111098226 synonymous SNV . 0 hm6A_associated_SNPs_15149 1 Benign Porencephaly RCV000369813.1
1542 chr13 111098226 111098226 1 + C T rs4103 111098223 + 111098203 111098243 41 GGGCCTGATGGACCCCGGGGACCCAAGGTGAGCCCGTTTCT GGGCCTGATGGACCCCGGGGACCTAAGGTGAGCCCGTTTCT < 41bp 1 0.0332207521217832 1 0.494766622781754 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111098223 chr13:111098226 synonymous SNV . 0 hm6A_associated_SNPs_15150 1 Benign Porencephaly RCV000369813.1
1543 chr13 111117920 111117920 1 + C T rs370641410 111117901 + 111117881 111117921 41 GGAGACGCCGGCTTACCTGGACCACCAGGCTTCCTGGGCCC GGAGACGCCGGCTTACCTGGACCACCAGGCTTCCTGGGCTC < 41bp 1 0.216144767487547 1 0.429829269647598 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111117901 chr13:111117920 nonsynonymous SNV 0.005 2 hm6A_associated_SNPs_15153 1 Likely benign Porencephaly RCV000367862.1
1544 chr13 111147696 111147696 1 + C T rs115373326 111147695 + 111147675 111147715 41 TAACTCTTCCACAGGTTCTGACATCCACGGAGACCCAGGCT TAACTCTTCCACAGGTTCTGATATCCACGGAGACCCAGGCT Direct Loss 1 0.198574536333676 1 0.286565244197845 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 22 COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111147695 chr13:111147696 synonymous SNV . 0 hm6A_associated_SNPs_15154 1 Likely benign Porencephaly RCV000308762.1
1545 chr13 111164328 111164328 1 + G A rs7320105 111164345 + 111164325 111164365 41 ACCGGGCAGCTGTCTAGAGGACTTCCGCGCCACACCATTCA ACCAGGCAGCTGTCTAGAGGACTTCCGCGCCACACCATTCA < 41bp 1 0.799635631021051 1 0.99405825138092 experiment 0.400728737957899 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 4 COL4A2 ENSG00000134871 CDS Human protein_coding chr13:111164345 chr13:111164328 synonymous SNV . 0 hm6A_associated_SNPs_15155 1 Likely benign Porencephaly RCV000390138.1
1546 chr13 111164563 111164563 1 + T C rs113331483 111164581 + 111164561 111164601 41 CATTTTGGTGCTTATTCTTAACTTATTACCTCAGGTGCCAA CACTTTGGTGCTTATTCTTAACTTATTACCTCAGGTGCCAA < 41bp 1 0.69988935385023 1 0.980864107608795 experiment 0.600221292299539 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 3 COL4A2 ENSG00000134871 UTR3 Human protein_coding chr13:111164581 chr13:111164563 . . 0 hm6A_associated_SNPs_15157 1 Likely benign Porencephaly RCV000381085.1
1547 chr13 111165079 111165079 1 + C T rs1049906 111165077 + 111165057 111165097 41 TGAATTATTTTAAAGGCAAAACCGTGCTCTTTATTTTAAAA TGAATTATTTTAAAGGCAAAACTGTGCTCTTTATTTTAAAA < 41bp 1 0.287505422888219 1 0.910470485687256 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 23 COL4A2 ENSG00000134871 UTR3 Human protein_coding chr13:111165077 chr13:111165079 . . 0 hm6A_associated_SNPs_15158 1 Benign Porencephaly RCV000397445.1
1548 chr13 111165095 111165095 1 + A G rs1049931 111165077 + 111165057 111165097 41 TGAATTATTTTAAAGGCAAAACCGTGCTCTTTATTTTAAAA TGAATTATTTTAAAGGCAAAACCGTGCTCTTTATTTTAGAA < 41bp 1 0.135954109959652 1 0.800345003604889 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 COL4A2 ENSG00000134871 UTR3 Human protein_coding chr13:111165077 chr13:111165095 . . 0 hm6A_associated_SNPs_15159 1 Benign Porencephaly RCV000314922.1
1549 chr14 29237968 29237968 1 + C A rs151157846 29237966 + 29237946 29237986 41 AATACATTAACATCCCTGGGACCAGACTGTAAGTGAACGTT AATACATTAACATCCCTGGGACAAGACTGTAAGTGAACGTT < 41bp 1 0.533722545568519 1 0.987800180912018 experiment 0.932554908862962 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 23 FOXG1 ENSG00000176165 UTR3 Human protein_coding chr14:29237966 chr14:29237968 . . 0 hm6A_associated_SNPs_15339 1 Benign not specified RCV000081276.7
1550 chr14 29237968 29237968 1 + C A rs151157846 29237971 + 29237951 29237991 41 ATTAACATCCCTGGGACCAGACTGTAAGTGAACGTTTTACA ATTAACATCCCTGGGACAAGACTGTAAGTGAACGTTTTACA < 41bp 1 0.504408298717403 1 0.984816789627075 experiment 0.991183402565195 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 FOXG1 ENSG00000176165 UTR3 Human protein_coding chr14:29237971 chr14:29237968 . . 0 hm6A_associated_SNPs_15340 1 Benign not specified RCV000081276.7
1551 chr14 31355245 31355245 1 + A G rs28362778 31355227 + 31355207 31355247 41 TTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACATT TTGTTTCCAACATAGCCAAGACTTTTGAAATCTCGGACGTT < 41bp 1 0.656131303180267 1 0.974551618099213 experiment 0.687737393639465 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 39 COCH ENSG00000100473 CDS Human protein_coding chr14:31355227 chr14:31355245 nonsynonymous SNV 0.999 2 hm6A_associated_SNPs_15350 1 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000340373.1
1552 chr14 31355245 31355245 1 + A G rs28362778 31355243 + 31355223 31355263 41 CAAGACTTTTGAAATCTCGGACATTGGTGCCAAGATAGCTG CAAGACTTTTGAAATCTCGGACGTTGGTGCCAAGATAGCTG Direct Loss 1 0.796666007228803 1 0.981896996498108 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 23 COCH ENSG00000100473 CDS Human protein_coding chr14:31355243 chr14:31355245 nonsynonymous SNV 0.999 2 hm6A_associated_SNPs_15351 1 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000340373.1
1553 chr14 31359024 31359024 1 + A T rs13122 31359011 + 31358991 31359031 41 GCAATAATGGTAACATTTTGACAACTGAAAGAAAAAGTACA GCAATAATGGTAACATTTTGACAACTGAAAGAATAAGTACA < 41bp 1 0.728010896887878 1 0.0600623786449432 experiment 0.543978206224244 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 34 COCH ENSG00000100473 UTR3 Human protein_coding chr14:31359011 chr14:31359024 . . 0 hm6A_associated_SNPs_15353 1 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000311668.1
1554 chr14 45644627 45644627 1 + T C rs8017226 45644635 + 45644615 45644655 41 TGAAAATATTTTTCAAGAAGACCTACCAAATGATAAAAGGA TGAAAATATTTTCCAAGAAGACCTACCAAATGATAAAAGGA < 41bp 1 0.163283580265442 1 0.982923030853271 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 FANCM ENSG00000187790 CDS Human protein_coding chr14:45644635 chr14:45644627 synonymous SNV . 0 hm6A_associated_SNPs_15383 1 other Fanconi anemia RCV000404077.1
1555 chr14 45645504 45645504 1 + T C rs142667852 45645511 + 45645491 45645531 41 TTCTGATGAACTTTTGTTGGACAATAATTCTGAACTCCAAG TTCTGATGAACTTCTGTTGGACAATAATTCTGAACTCCAAG < 41bp 1 0.72707698440262 1 0.983189940452576 experiment 0.545846031194759 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 14 FANCM ENSG00000187790 CDS Human protein_coding chr14:45645511 chr14:45645504 synonymous SNV . 0 hm6A_associated_SNPs_15384 1 Benign Fanconi anemia RCV000470823.1
1556 chr14 45645504 45645504 1 + T C rs142667852 45645524 + 45645504 45645544 41 TTGTTGGACAATAATTCTGAACTCCAAGATCAAATCACCCG CTGTTGGACAATAATTCTGAACTCCAAGATCAAATCACCCG < 41bp 1 0.404140475405 1 0.980904579162598 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 FANCM ENSG00000187790 CDS Human protein_coding chr14:45645524 chr14:45645504 synonymous SNV . 0 hm6A_associated_SNPs_15385 1 Benign Fanconi anemia RCV000470823.1
1557 chr14 45658024 45658024 1 + C T rs61746943 45658013 + 45657993 45658033 41 TTTTTATTGTAGATTCCTGAACAAGATGAAACCTATTTAGA TTTTTATTGTAGATTCCTGAACAAGATGAAATCTATTTAGA < 41bp 1 0.745860543077189 1 0.8173987865448 experiment 0.508278913845621 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 32 FANCM ENSG00000187790 CDS Human protein_coding chr14:45658013 chr14:45658024 nonsynonymous SNV 0.989 1 hm6A_associated_SNPs_15386 2 Benign not specified RCV000203014.1
1558 chr14 45658024 45658024 1 + C T rs61746943 45658013 + 45657993 45658033 41 TTTTTATTGTAGATTCCTGAACAAGATGAAACCTATTTAGA TTTTTATTGTAGATTCCTGAACAAGATGAAATCTATTTAGA < 41bp 1 0.745860543077189 1 0.8173987865448 experiment 0.508278913845621 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 32 FANCM ENSG00000187790 CDS Human protein_coding chr14:45658013 chr14:45658024 nonsynonymous SNV 0.989 1 hm6A_associated_SNPs_15386 2 other Fanconi anemia RCV000233839.3
1559 chr14 45669205 45669205 1 + T C rs8018014 45669193 + 45669173 45669213 41 AATGATCTTAACCAAGATAGACTGAAATCTGATATATAATC AATGATCTTAACCAAGATAGACTGAAATCTGACATATAATC < 41bp 1 0.684839165832436 1 0.943086504936218 experiment 0.630321668335128 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 33 FANCM ENSG00000187790 CDS Human protein_coding chr14:45669193 chr14:45669205 synonymous SNV . 0 hm6A_associated_SNPs_15390 2 Benign not specified RCV000245541.1
1560 chr14 45669205 45669205 1 + T C rs8018014 45669193 + 45669173 45669213 41 AATGATCTTAACCAAGATAGACTGAAATCTGATATATAATC AATGATCTTAACCAAGATAGACTGAAATCTGACATATAATC < 41bp 1 0.684839165832436 1 0.943086504936218 experiment 0.630321668335128 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 33 FANCM ENSG00000187790 CDS Human protein_coding chr14:45669193 chr14:45669205 synonymous SNV . 0 hm6A_associated_SNPs_15390 2 other Fanconi anemia RCV000383399.1
1561 chr14 50088346 50088346 1 + G A rs148802016 50088363 + 50088343 50088383 41 GCTGGTGGTCCAGGTGCATAACCGGCCCGAATACCTCAGAC GCTAGTGGTCCAGGTGCATAACCGGCCCGAATACCTCAGAC < 41bp 1 0.785231781847537 1 0.998607516288757 experiment 0.429536436304926 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 MGAT2 ENSG00000168282 CDS Human protein_coding chr14:50088363 chr14:50088346 synonymous SNV . 0 hm6A_associated_SNPs_15393 2 Uncertain significance Congenital disorder of glycosylation RCV000304486.1
1562 chr14 50088346 50088346 1 + G A rs148802016 50088363 + 50088343 50088383 41 GCTGGTGGTCCAGGTGCATAACCGGCCCGAATACCTCAGAC GCTAGTGGTCCAGGTGCATAACCGGCCCGAATACCTCAGAC < 41bp 1 0.785231781847537 1 0.998607516288757 experiment 0.429536436304926 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 MGAT2 ENSG00000168282 CDS Human protein_coding chr14:50088363 chr14:50088346 synonymous SNV . 0 hm6A_associated_SNPs_15393 2 Benign not specified RCV000427887.1
1563 chr14 50088595 50088595 1 + T C rs147375948 50088582 + 50088562 50088602 41 CCCTAGAGATTGTCCCAGAGACCTGCCGAAGAATGCCGCTT CCCTAGAGATTGTCCCAGAGACCTGCCGAAGAACGCCGCTT < 41bp 1 0.785989460183539 1 0.997967123985291 experiment 0.428021079632923 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 34 MGAT2 ENSG00000168282 CDS Human protein_coding chr14:50088582 chr14:50088595 synonymous SNV . 0 hm6A_associated_SNPs_15394 1 Benign not specified RCV000423478.1
1564 chr14 64467358 64467358 1 + A C rs57259697 64467356 + 64467336 64467376 41 GTTAGAAAATCATGTGAATGACATAAAAAAGCCTTTTGTAA GTTAGAAAATCATGTGAATGACCTAAAAAAGCCTTTTGTAA < 41bp 1 0.123367685799705 1 0.0561883747577667 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 23 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64467356 chr14:64467358 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_15474 2 Likely benign not specified RCV000118535.2
1565 chr14 64467358 64467358 1 + A C rs57259697 64467356 + 64467336 64467376 41 GTTAGAAAATCATGTGAATGACATAAAAAAGCCTTTTGTAA GTTAGAAAATCATGTGAATGACCTAAAAAAGCCTTTTGTAA < 41bp 1 0.123367685799705 1 0.0561883747577667 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 23 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64467356 chr14:64467358 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_15474 2 Benign Emery-Dreifuss muscular dystrophy RCV000271386.1
1566 chr14 64518529 64518529 1 + A G rs190582637 64518541 + 64518521 64518561 41 CCTCATGAATAAGGTACAGGACACTGAGATTTCTCTGCAAC CCTCATGAGTAAGGTACAGGACACTGAGATTTCTCTGCAAC < 41bp 1 0.649172047133052 1 0.938001036643982 experiment 0.701655905733897 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 9 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64518541 chr14:64518529 nonsynonymous SNV 0.008 0 hm6A_associated_SNPs_15477 2 other not specified RCV000162194.2
1567 chr14 64518529 64518529 1 + A G rs190582637 64518541 + 64518521 64518561 41 CCTCATGAATAAGGTACAGGACACTGAGATTTCTCTGCAAC CCTCATGAGTAAGGTACAGGACACTGAGATTTCTCTGCAAC < 41bp 1 0.649172047133052 1 0.938001036643982 experiment 0.701655905733897 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 9 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64518541 chr14:64518529 nonsynonymous SNV 0.008 0 hm6A_associated_SNPs_15477 2 Likely benign Emery-Dreifuss muscular dystrophy RCV000277870.1
1568 chr14 64520027 64520027 1 + G A rs566182360 64520047 + 64520027 64520067 41 GTTATACAAAGTTCTCCAAAACATGGTATTAGAACTCTCAC ATTATACAAAGTTCTCCAAAACATGGTATTAGAACTCTCAC < 41bp 1 0.592886861906595 1 0.973924398422241 experiment 0.814226276186809 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 1 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64520047 chr14:64520027 synonymous SNV . 0 hm6A_associated_SNPs_15481 1 Uncertain significance Emery-Dreifuss muscular dystrophy RCV000259580.1
1569 chr14 64633984 64633984 1 + G A rs17179194 64633969 + 64633949 64633989 41 AGAATCATGTGCTGGCACTGACAGCCCAATCACCTGATATT AGAATCATGTGCTGGCACTGACAGCCCAATCACCTAATATT < 41bp 1 0.208631575439718 1 0.805323123931885 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 36 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64633969 chr14:64633984 nonsynonymous SNV 0.915 1 hm6A_associated_SNPs_15483 1 Likely benign Emery-Dreifuss muscular dystrophy RCV000381773.1
1570 chr14 64690055 64690055 1 + G A rs202240664 64690047 + 64690027 64690067 41 GTTATTGAGAAGAAACTCAAACAGTTACGGGAGCAAGTGTC GTTATTGAGAAGAAACTCAAACAGTTACAGGAGCAAGTGTC < 41bp 1 0.309439252649027 1 0.898370385169983 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 29 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64690047 chr14:64690055 nonsynonymous SNV 0.312 0 hm6A_associated_SNPs_15485 2 Likely benign Emery-Dreifuss muscular dystrophy RCV000322327.1
1571 chr14 64690055 64690055 1 + G A rs202240664 64690047 + 64690027 64690067 41 GTTATTGAGAAGAAACTCAAACAGTTACGGGAGCAAGTGTC GTTATTGAGAAGAAACTCAAACAGTTACAGGAGCAAGTGTC < 41bp 1 0.309439252649027 1 0.898370385169983 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 29 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64690047 chr14:64690055 nonsynonymous SNV 0.312 0 hm6A_associated_SNPs_15485 2 Benign not specified RCV000402229.1
1572 chr14 66096297 66096297 1 + G A rs35137471 66096313 + 66096293 66096333 41 AACTGGTTCAGCGGAGAATAACATATCTTCAGGTAAGAAGG AACTAGTTCAGCGGAGAATAACATATCTTCAGGTAAGAAGG < 41bp 1 0.162901402670001 1 0.192101418972015 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 5 FUT8 ENSG00000033170 CDS Human protein_coding chr14:66096313 chr14:66096297 synonymous SNV . 0 hm6A_associated_SNPs_15506 1 Benign not specified RCV000455087.1
1573 chr14 70418881 70418881 1 + G A rs3742909 70418874 + 70418854 70418894 41 GTTTCTAATAAGTGACCGTGACCCACAGTGCAACCTCCACT GTTTCTAATAAGTGACCGTGACCCACAATGCAACCTCCACT < 41bp 1 0.0683466120296839 1 0.442359507083893 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 28 SMOC1 ENSG00000198732 CDS Human protein_coding chr14:70418874 chr14:70418881 synonymous SNV . 0 hm6A_associated_SNPs_15547 1 Benign not specified RCV000248068.1
1574 chr14 73689629 73689629 1 + G A rs362393 73689646 + 73689626 73689666 41 GAAGGAGACGTGAAAATTGGACATTTGGTTTTGCCCTTGGG GAAAGAGACGTGAAAATTGGACATTTGGTTTTGCCCTTGGG < 41bp 1 0.347771434367396 1 0.918595612049103 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 4 PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73689646 chr14:73689629 . . 0 hm6A_associated_SNPs_15581 2 Likely benign Dilated Cardiomyopathy, Dominant RCV000273256.1
1575 chr14 73689629 73689629 1 + G A rs362393 73689646 + 73689626 73689666 41 GAAGGAGACGTGAAAATTGGACATTTGGTTTTGCCCTTGGG GAAAGAGACGTGAAAATTGGACATTTGGTTTTGCCCTTGGG < 41bp 1 0.347771434367396 1 0.918595612049103 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 4 PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73689646 chr14:73689629 . . 0 hm6A_associated_SNPs_15581 2 Likely benign Early-Onset Familial Alzheimer Disease RCV000326145.1
1576 chr14 73689634 73689634 1 + C T rs114000457 73689646 + 73689626 73689666 41 GAAGGAGACGTGAAAATTGGACATTTGGTTTTGCCCTTGGG GAAGGAGATGTGAAAATTGGACATTTGGTTTTGCCCTTGGG < 41bp 1 0.313910495289725 1 0.904426455497742 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 9 PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73689646 chr14:73689634 . . 0 hm6A_associated_SNPs_15582 2 Likely benign Dilated Cardiomyopathy, Dominant RCV000295775.1
1577 chr14 73689634 73689634 1 + C T rs114000457 73689646 + 73689626 73689666 41 GAAGGAGACGTGAAAATTGGACATTTGGTTTTGCCCTTGGG GAAGGAGATGTGAAAATTGGACATTTGGTTTTGCCCTTGGG < 41bp 1 0.313910495289725 1 0.904426455497742 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 9 PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73689646 chr14:73689634 . . 0 hm6A_associated_SNPs_15582 2 Likely benign Early-Onset Familial Alzheimer Disease RCV000380818.1
1578 chr14 73690027 73690027 1 + A G rs186752250 73690025 + 73690005 73690045 41 TGGGTCCACCCTGAGCCCTGACATGTGGTGGCAGCATTGCC TGGGTCCACCCTGAGCCCTGACGTGTGGTGGCAGCATTGCC Direct Loss 1 0.195840856442532 1 0.274329394102097 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 23 PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73690025 chr14:73690027 . . 0 hm6A_associated_SNPs_15583 2 Likely benign Dilated Cardiomyopathy, Dominant RCV000265726.1
1579 chr14 73690027 73690027 1 + A G rs186752250 73690025 + 73690005 73690045 41 TGGGTCCACCCTGAGCCCTGACATGTGGTGGCAGCATTGCC TGGGTCCACCCTGAGCCCTGACGTGTGGTGGCAGCATTGCC Direct Loss 1 0.195840856442532 1 0.274329394102097 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 23 PSEN1 ENSG00000080815 UTR3 Human protein_coding chr14:73690025 chr14:73690027 . . 0 hm6A_associated_SNPs_15583 2 Likely benign Early-Onset Familial Alzheimer Disease RCV000309268.1
1580 chr14 89039308 89039308 1 + A G rs116690538 89039290 + 89039270 89039310 41 GTGTGAACCAGAGGTGCTTAACAGCTTAGAAGAAACGTATA GTGTGAACCAGAGGTGCTTAACAGCTTAGAAGAAACGTGTA < 41bp 1 0.562550295483825 1 0.693946659564972 experiment 0.874899409032351 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26593424;GSE73405;miCLIP;HepG2;Control 39 ZC3H14 ENSG00000100722 CDS Human protein_coding chr14:89039290 chr14:89039308 nonsynonymous SNV 0.795 4 hm6A_associated_SNPs_15635 1 Uncertain significance not specified RCV000500967.1
1581 chr14 89343837 89343837 1 + A G rs147325843 89343857 + 89343837 89343877 41 AGTGTAATACGTATATTTTAACAAACCTGTCCTTGATATTA GGTGTAATACGTATATTTTAACAAACCTGTCCTTGATATTA < 41bp 1 0.218321740711016 1 0.241310834884644 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 1 TTC8 ENSG00000165533 UTR3 Human protein_coding chr14:89343857 chr14:89343837 . . 0 hm6A_associated_SNPs_15640 2 Uncertain significance Bardet-Biedl syndrome RCV000273618.1
1582 chr14 89343837 89343837 1 + A G rs147325843 89343857 + 89343837 89343877 41 AGTGTAATACGTATATTTTAACAAACCTGTCCTTGATATTA GGTGTAATACGTATATTTTAACAAACCTGTCCTTGATATTA < 41bp 1 0.218321740711016 1 0.241310834884644 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 1 TTC8 ENSG00000165533 UTR3 Human protein_coding chr14:89343857 chr14:89343837 . . 0 hm6A_associated_SNPs_15640 2 Uncertain significance Retinitis Pigmentosa, Recessive RCV000389074.1
1583 chr14 90451530 90451530 1 + T C rs10151377 90451545 + 90451525 90451565 41 GATAATTGGGGACATTTTAGACTTAAGAAGGTAACAGAACT GATAACTGGGGACATTTTAGACTTAAGAAGGTAACAGAACT < 41bp 1 0.20157919805317 1 0.682534217834473 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 6 TDP1 ENSG00000042088 CDS Human protein_coding chr14:90451545 chr14:90451530 synonymous SNV . 0 hm6A_associated_SNPs_15645 1 Likely benign Spinocerebellar Ataxia, Recessive RCV000395428.1
1584 chr14 95081081 95081081 1 + A G rs17826465 95081067 + 95081047 95081087 41 GGGCCCATAATACCACCCTGACAGAGATTCTCAAAGGCCTC GGGCCCATAATACCACCCTGACAGAGATTCTCAAGGGCCTC < 41bp 1 0.384524780757415 1 0.985923945903778 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 SERPINA3 ENSG00000196136 CDS Human protein_coding chr14:95081067 chr14:95081081 synonymous SNV . 0 hm6A_associated_SNPs_15702 1 Benign not specified RCV000454628.1
1585 chr14 102442098 102442098 1 + C T rs17540624 102442097 + 102442077 102442117 41 AAAAGAATTCATTTCCTATAACATCAACATAGACATTCATT AAAAGAATTCATTTCCTATAATATCAACATAGACATTCATT Direct Loss 1 0.53960342133812 1 0.0331181883811951 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102442097 chr14:102442098 synonymous SNV . 0 hm6A_associated_SNPs_15749 2 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000473319.1
1586 chr14 102442098 102442098 1 + C T rs17540624 102442097 + 102442077 102442117 41 AAAAGAATTCATTTCCTATAACATCAACATAGACATTCATT AAAAGAATTCATTTCCTATAATATCAACATAGACATTCATT Direct Loss 1 0.53960342133812 1 0.0331181883811951 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102442097 chr14:102442098 synonymous SNV . 0 hm6A_associated_SNPs_15749 2 Likely benign not specified RCV000501948.1
1587 chr14 102453876 102453876 1 + G A rs17512082 102453868 + 102453848 102453888 41 CTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAAC CTTGTATGTATGACCATAAGACATTCTCAGAAATCTTGAAC < 41bp 1 0.739249188291454 1 0.603674113750458 experiment 0.521501623417093 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453868 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15751 5 Likely benign not specified RCV000116913.2
1588 chr14 102453876 102453876 1 + G A rs17512082 102453868 + 102453848 102453888 41 CTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAAC CTTGTATGTATGACCATAAGACATTCTCAGAAATCTTGAAC < 41bp 1 0.739249188291454 1 0.603674113750458 experiment 0.521501623417093 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453868 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15751 5 Likely benign Intellectual Disability, Dominant RCV000310503.1
1589 chr14 102453876 102453876 1 + G A rs17512082 102453868 + 102453848 102453888 41 CTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAAC CTTGTATGTATGACCATAAGACATTCTCAGAAATCTTGAAC < 41bp 1 0.739249188291454 1 0.603674113750458 experiment 0.521501623417093 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453868 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15751 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000365122.1
1590 chr14 102453876 102453876 1 + G A rs17512082 102453868 + 102453848 102453888 41 CTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAAC CTTGTATGTATGACCATAAGACATTCTCAGAAATCTTGAAC < 41bp 1 0.739249188291454 1 0.603674113750458 experiment 0.521501623417093 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453868 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15751 5 Likely benign Spinocerebellar Ataxia, Dominant RCV000405935.1
1591 chr14 102453876 102453876 1 + G A rs17512082 102453868 + 102453848 102453888 41 CTTGTATGTATGACCATAAGACATTCTCGGAAATCTTGAAC CTTGTATGTATGACCATAAGACATTCTCAGAAATCTTGAAC < 41bp 1 0.739249188291454 1 0.603674113750458 experiment 0.521501623417093 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453868 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15751 5 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000462589.1
1592 chr14 102453876 102453876 1 + G A rs17512082 102453887 + 102453867 102453907 41 GACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGG GACATTCTCAGAAATCTTGAACAGAGTCCAGAAAGCAGTGG < 41bp 1 0.60671708090387 1 0.0759805738925934 experiment 0.786565838192259 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453887 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15752 5 Likely benign not specified RCV000116913.2
1593 chr14 102453876 102453876 1 + G A rs17512082 102453887 + 102453867 102453907 41 GACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGG GACATTCTCAGAAATCTTGAACAGAGTCCAGAAAGCAGTGG < 41bp 1 0.60671708090387 1 0.0759805738925934 experiment 0.786565838192259 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453887 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15752 5 Likely benign Intellectual Disability, Dominant RCV000310503.1
1594 chr14 102453876 102453876 1 + G A rs17512082 102453887 + 102453867 102453907 41 GACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGG GACATTCTCAGAAATCTTGAACAGAGTCCAGAAAGCAGTGG < 41bp 1 0.60671708090387 1 0.0759805738925934 experiment 0.786565838192259 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453887 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15752 5 Likely benign Charcot-Marie-Tooth, Type 2 RCV000365122.1
1595 chr14 102453876 102453876 1 + G A rs17512082 102453887 + 102453867 102453907 41 GACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGG GACATTCTCAGAAATCTTGAACAGAGTCCAGAAAGCAGTGG < 41bp 1 0.60671708090387 1 0.0759805738925934 experiment 0.786565838192259 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453887 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15752 5 Likely benign Spinocerebellar Ataxia, Dominant RCV000405935.1
1596 chr14 102453876 102453876 1 + G A rs17512082 102453887 + 102453867 102453907 41 GACATTCTCGGAAATCTTGAACAGAGTCCAGAAAGCAGTGG GACATTCTCAGAAATCTTGAACAGAGTCCAGAAAGCAGTGG < 41bp 1 0.60671708090387 1 0.0759805738925934 experiment 0.786565838192259 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 10 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102453887 chr14:102453876 synonymous SNV . 0 hm6A_associated_SNPs_15752 5 Benign Charcot-Marie-Tooth disease, axonal, type 2O RCV000462589.1
1597 chr14 102471434 102471434 1 + C T rs150687712 102471430 + 102471410 102471450 41 CCTGGTCTGAGAACGTGGAGACCGCACTGAGCAGCATGGGC CCTGGTCTGAGAACGTGGAGACCGTACTGAGCAGCATGGGC < 41bp 1 0.0641837767232231 1 0.548775732517242 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 25 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102471430 chr14:102471434 nonsynonymous SNV 0.538 1 hm6A_associated_SNPs_15753 1 Uncertain significance not specified RCV000489468.1
1598 chr14 102504838 102504838 1 + C T rs17541505 102504854 + 102504834 102504874 41 TGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC TGAATCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC < 41bp 1 0.474897050004417 1 0.873434722423553 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 5 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102504854 chr14:102504838 synonymous SNV . 0 hm6A_associated_SNPs_15755 4 Benign not specified RCV000116907.3
1599 chr14 102504838 102504838 1 + C T rs17541505 102504854 + 102504834 102504874 41 TGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC TGAATCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC < 41bp 1 0.474897050004417 1 0.873434722423553 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 5 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102504854 chr14:102504838 synonymous SNV . 0 hm6A_associated_SNPs_15755 4 Likely benign Charcot-Marie-Tooth, Type 2 RCV000296659.1
1600 chr14 102504838 102504838 1 + C T rs17541505 102504854 + 102504834 102504874 41 TGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC TGAATCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC < 41bp 1 0.474897050004417 1 0.873434722423553 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 5 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102504854 chr14:102504838 synonymous SNV . 0 hm6A_associated_SNPs_15755 4 Likely benign Spinocerebellar Ataxia, Dominant RCV000344733.1
1601 chr14 102504838 102504838 1 + C T rs17541505 102504854 + 102504834 102504874 41 TGAACCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC TGAATCGTGAAGTGCGGCGAACAGGGGGGAGAGTGCTGATC < 41bp 1 0.474897050004417 1 0.873434722423553 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 5 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102504854 chr14:102504838 synonymous SNV . 0 hm6A_associated_SNPs_15755 4 Likely benign Intellectual Disability, Dominant RCV000400301.1
1602 chr14 102504904 102504904 1 + G A rs199679500 102504885 + 102504865 102504905 41 AGTGCTGATCACTCTCGGGGACCAGGACATAGACCTGTCGC AGTGCTGATCACTCTCGGGGACCAGGACATAGACCTGTCAC < 41bp 1 0.168619094542056 1 0.775022029876709 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 40 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102504885 chr14:102504904 synonymous SNV . 0 hm6A_associated_SNPs_15756 1 Uncertain significance not specified RCV000192449.1
1603 chr14 102504904 102504904 1 + G A rs199679500 102504897 + 102504877 102504917 41 TCTCGGGGACCAGGACATAGACCTGTCGCCATCGTTTGTCA TCTCGGGGACCAGGACATAGACCTGTCACCATCGTTTGTCA < 41bp 1 0.372359225293707 1 0.755541265010834 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 28 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102504897 chr14:102504904 synonymous SNV . 0 hm6A_associated_SNPs_15757 1 Uncertain significance not specified RCV000192449.1
1604 chr14 102901201 102901201 1 + A G rs10149146 102901199 + 102901179 102901219 41 GGAGCCCAGCCAAGAGCAGGACATCCTAACCAGCATGGAGG GGAGCCCAGCCAAGAGCAGGACGTCCTAACCAGCATGGAGG Direct Loss 1 0.723899902497072 1 0.988992094993591 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 23 TECPR2 ENSG00000196663 CDS Human protein_coding chr14:102901199 chr14:102901201 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_15763 1 Benign not specified RCV000421443.1
1605 chr14 102901204 102901204 1 + C G rs45467297 102901199 + 102901179 102901219 41 GGAGCCCAGCCAAGAGCAGGACATCCTAACCAGCATGGAGG GGAGCCCAGCCAAGAGCAGGACATCGTAACCAGCATGGAGG < 41bp 1 0.789436391393207 1 0.992706418037415 experiment 0.421127217213586 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 26 TECPR2 ENSG00000196663 CDS Human protein_coding chr14:102901199 chr14:102901204 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_15764 2 Benign not specified RCV000435016.1
1606 chr14 102901204 102901204 1 + C G rs45467297 102901199 + 102901179 102901219 41 GGAGCCCAGCCAAGAGCAGGACATCCTAACCAGCATGGAGG GGAGCCCAGCCAAGAGCAGGACATCGTAACCAGCATGGAGG < 41bp 1 0.789436391393207 1 0.992706418037415 experiment 0.421127217213586 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 26 TECPR2 ENSG00000196663 CDS Human protein_coding chr14:102901199 chr14:102901204 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_15764 2 Benign Spastic paraplegia 49, autosomal recessive RCV000471249.1
1607 chr14 104029346 104029346 1 + T C rs61733762 104029366 + 104029346 104029386 41 TCTTGCGGGCGGGGAAGAAGACCTTTCTCCCCCCTCTCTGC CCTTGCGGGCGGGGAAGAAGACCTTTCTCCCCCCTCTCTGC < 41bp 1 0.138558215672289 1 0.979001641273499 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 1 APOPT1 ENSG00000256053;ENSG00000256500 CDS Human other chr14:104029366 chr14:104029346 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_15809 1 Benign not specified RCV000425434.1
1608 chr14 104029361 104029361 1 + A G rs190920873 104029366 + 104029346 104029386 41 TCTTGCGGGCGGGGAAGAAGACCTTTCTCCCCCCTCTCTGC TCTTGCGGGCGGGGAGGAAGACCTTTCTCCCCCCTCTCTGC < 41bp 1 0.11808633387151 1 0.975689888000488 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 16 APOPT1 ENSG00000256053;ENSG00000256500 CDS Human other chr14:104029366 chr14:104029361 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_15810 2 Benign not provided RCV000424487.1
1609 chr14 104029361 104029361 1 + A G rs190920873 104029366 + 104029346 104029386 41 TCTTGCGGGCGGGGAAGAAGACCTTTCTCCCCCCTCTCTGC TCTTGCGGGCGGGGAGGAAGACCTTTCTCCCCCCTCTCTGC < 41bp 1 0.11808633387151 1 0.975689888000488 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 16 APOPT1 ENSG00000256053;ENSG00000256500 CDS Human other chr14:104029366 chr14:104029361 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_15810 2 Benign not specified RCV000480235.1
1610 chr14 104029378 104029378 1 + C A rs2274268 104029366 + 104029346 104029386 41 TCTTGCGGGCGGGGAAGAAGACCTTTCTCCCCCCTCTCTGC TCTTGCGGGCGGGGAAGAAGACCTTTCTCCCCACTCTCTGC < 41bp 1 0.131174595007067 1 0.978633642196655 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 33 APOPT1 ENSG00000256053;ENSG00000256500 CDS Human other chr14:104029366 chr14:104029378 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_15811 1 Likely benign not specified RCV000431734.1
1611 chr14 104040473 104040473 1 + A G rs71417867 104040470 + 104040450 104040490 41 GAAGAATTTATTCACTCAAGACTAAAAACTAAAGGCCTGGG GAAGAATTTATTCACTCAAGACTGAAAACTAAAGGCCTGGG < 41bp 1 0.389099558338206 1 0.571468114852905 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 APOPT1 ENSG00000256053;ENSG00000256500 CDS Human other chr14:104040470 chr14:104040473 synonymous SNV . 0 hm6A_associated_SNPs_15813 1 Benign not specified RCV000418633.1
1612 chr15 25219562 25219562 1 + G A rs75184959 25219575 + 25219555 25219595 41 GCATCAAGTTTTAACTGTGGACATTGGATTTGGTGGAACAG GCATCAAATTTTAACTGTGGACATTGGATTTGGTGGAACAG < 41bp 1 0.32891837671308 1 0.772249460220337 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 8 SNHG14 ENSG00000128739;ENSG00000273173 UTR5;UTR3 Human other chr15:25219575 chr15:25219562 . . 0 hm6A_associated_SNPs_15868 1 Likely benign Autism spectrum disorders RCV000262201.1
1613 chr15 31197564 31197564 1 + G A rs4779794 31197550 + 31197530 31197570 41 AAGGAAGAGTGCATTCCTGAACATATGGTAAGAGGAAGTAA AAGGAAGAGTGCATTCCTGAACATATGGTAAGAGAAAGTAA < 41bp 1 0.619447008043389 1 0.992609024047852 experiment 0.761105983913223 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 35 FAN1 ENSG00000198690 CDS Human protein_coding chr15:31197550 chr15:31197564 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_15896 1 Benign not specified RCV000247214.1
1614 chr15 34522240 34522240 1 + C A rs552491692 34522244 + 34522224 34522264 41 TGTTTCCAGTACAGAGCAAAACAACAACAAAAAAACATAAC TGTTTCCAGTACAGAGAAAAACAACAACAAAAAAACATAAC < 41bp 1 0.434158283911405 1 0.56477290391922 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 EMC4;SLC12A6 ENSG00000128463 UTR3 Human protein_coding chr15:34522244 chr15:34522240 . . 0 hm6A_associated_SNPs_15930 1 Uncertain significance Andermann syndrome RCV000296383.1
1615 chr15 34522240 34522240 1 + C A rs552491692 34522258 + 34522238 34522278 41 AGCAAAACAACAACAAAAAAACATAACTATGTAAACAAGAG AGAAAAACAACAACAAAAAAACATAACTATGTAAACAAGAG < 41bp 1 0.475524950156394 1 0.730870842933655 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown|30867593;GSE121942;miCLIP;HepG2;Control 3 EMC4;SLC12A6 ENSG00000128463 UTR3 Human protein_coding chr15:34522258 chr15:34522240 . . 0 hm6A_associated_SNPs_15931 1 Uncertain significance Andermann syndrome RCV000296383.1
1616 chr15 39879717 39879717 1 + G A rs2229364 39879713 + 39879693 39879733 41 CTGCCACATTCAGGAGTGTGACAAGAGATGTAAGCATCTTA CTGCCACATTCAGGAGTGTGACAAAAGATGTAAGCATCTTA < 41bp 1 0.391829193236926 1 0.963420450687408 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 25 THBS1 ENSG00000137801 CDS Human protein_coding chr15:39879713 chr15:39879717 synonymous SNV . 0 hm6A_associated_SNPs_15937 1 Benign not specified RCV000455336.1
1617 chr15 39885301 39885301 1 + T C rs2228263 39885285 + 39885265 39885305 41 CATCTGTCCTGAGAATGTTGACATCAGTGAGACCGATTTCC CATCTGTCCTGAGAATGTTGACATCAGTGAGACCGACTTCC < 41bp 1 0.616739924013763 1 0.998590052127838 experiment 0.766520151972473 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 37 THBS1 ENSG00000137801 CDS Human protein_coding chr15:39885285 chr15:39885301 synonymous SNV . 0 hm6A_associated_SNPs_15939 1 Benign not specified RCV000455909.1
1618 chr15 40265799 40265799 1 + A G rs2307105 40265803 + 40265783 40265823 41 TTTATCTCAGATTCTGAAGGACAAGATTATGTTGAGACTGT TTTATCTCAGATTCTGGAGGACAAGATTATGTTGAGACTGT < 41bp 1 0.618242663519265 1 0.359579741954803 experiment 0.76351467296147 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 17 EIF2AK4 ENSG00000128829 CDS Human protein_coding chr15:40265803 chr15:40265799 nonsynonymous SNV 0.986 0 hm6A_associated_SNPs_15944 1 Benign not specified RCV000425189.1
1619 chr15 40265799 40265799 1 + A G rs2307105 40265819 + 40265799 40265839 41 AAGGACAAGATTATGTTGAGACTGTTATTCCTAGCAACCGG GAGGACAAGATTATGTTGAGACTGTTATTCCTAGCAACCGG < 41bp 1 0.241763005457295 1 0.237650603055954 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 1 EIF2AK4 ENSG00000128829 CDS Human protein_coding chr15:40265819 chr15:40265799 nonsynonymous SNV 0.986 0 hm6A_associated_SNPs_15945 1 Benign not specified RCV000425189.1
1620 chr15 40710723 40710723 1 + G A rs2075624 40710733 + 40710713 40710753 41 TGTTGGGACAGGTTTTGGTGACTCTGTGCCCTTGCTCTCTA TGTTGGGACAAGTTTTGGTGACTCTGTGCCCTTGCTCTCTA < 41bp 1 0.631605242499657 1 0.0232691764831543 experiment 0.736789515000685 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 11 IVD ENSG00000128928 UTR3 Human protein_coding chr15:40710733 chr15:40710723 . . 0 hm6A_associated_SNPs_15960 1 Benign Isovaleryl-CoA dehydrogenase deficiency RCV000319888.1
1621 chr15 40710909 40710909 1 + C G rs79191320 40710926 + 40710906 40710946 41 GCCCCTCTCCATGAATTGGAACTTGGTACAGGTTAAGTATC GCCGCTCTCCATGAATTGGAACTTGGTACAGGTTAAGTATC < 41bp 1 0.682064598061726 1 0.0788908898830414 experiment 0.635870803876547 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 4 IVD ENSG00000128928 UTR3 Human protein_coding chr15:40710926 chr15:40710909 . . 0 hm6A_associated_SNPs_15961 1 Likely benign Isovaleryl-CoA dehydrogenase deficiency RCV000398690.1
1622 chr15 40713374 40713374 1 + G A rs11557072 40713375 + 40713355 40713395 41 CTGGAGAGACCAGCCTGGAGACAATGTGGCAAAATGGGGCG CTGGAGAGACCAGCCTGGAAACAATGTGGCAAAATGGGGCG < 41bp 1 0.67691880658228 1 0.134326219558716 experiment 0.646162386835439 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 20 IVD ENSG00000128928 UTR3 Human protein_coding chr15:40713375 chr15:40713374 . . 0 hm6A_associated_SNPs_15965 1 Likely benign Isovaleryl-CoA dehydrogenase deficiency RCV000336139.1
1623 chr15 40913695 40913695 1 + G C rs116093409 40913696 + 40913676 40913716 41 ATGCCAGAATATTAGCCATGACCCCAGAATCTATATATTCT ATGCCAGAATATTAGCCATCACCCCAGAATCTATATATTCT Direct Loss 1 0.283759289758988 1 0.0733831822872162 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 20 KNL1 ENSG00000137812 CDS Human protein_coding chr15:40913696 chr15:40913695 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_15970 2 Uncertain significance Primary Microcephaly, Recessive RCV000342564.1
1624 chr15 40913695 40913695 1 + G C rs116093409 40913696 + 40913676 40913716 41 ATGCCAGAATATTAGCCATGACCCCAGAATCTATATATTCT ATGCCAGAATATTAGCCATCACCCCAGAATCTATATATTCT Direct Loss 1 0.283759289758988 1 0.0733831822872162 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 20 KNL1 ENSG00000137812 CDS Human protein_coding chr15:40913696 chr15:40913695 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_15970 2 Likely benign not specified RCV000502331.1
1625 chr15 40913761 40913761 1 + T C rs35235972 40913741 + 40913721 40913761 41 CATCTATTCAAGGTTGTAAGACTGTTTTCTATTCTAGTTGT CATCTATTCAAGGTTGTAAGACTGTTTTCTATTCTAGTTGC < 41bp 1 0.743294561001093 1 0.42513769865036 experiment 0.513410877997814 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control 41 KNL1 ENSG00000137812 CDS Human protein_coding chr15:40913741 chr15:40913761 synonymous SNV . 0 hm6A_associated_SNPs_15971 1 Likely benign not specified RCV000116559.2
1626 chr15 40914177 40914177 1 + T C rs11858113 40914157 + 40914137 40914177 41 TTGACTGATAGAAAGACTGAACTCTTATCAGGTGAAAATAT TTGACTGATAGAAAGACTGAACTCTTATCAGGTGAAAATAC < 41bp 1 0.759893806751416 1 0.994610071182251 experiment 0.480212386497169 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 41 KNL1 ENSG00000137812 CDS Human protein_coding chr15:40914157 chr15:40914177 nonsynonymous SNV 0.987 0 hm6A_associated_SNPs_15972 2 Benign not specified RCV000116561.1
1627 chr15 40914177 40914177 1 + T C rs11858113 40914157 + 40914137 40914177 41 TTGACTGATAGAAAGACTGAACTCTTATCAGGTGAAAATAT TTGACTGATAGAAAGACTGAACTCTTATCAGGTGAAAATAC < 41bp 1 0.759893806751416 1 0.994610071182251 experiment 0.480212386497169 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 41 KNL1 ENSG00000137812 CDS Human protein_coding chr15:40914157 chr15:40914177 nonsynonymous SNV 0.987 0 hm6A_associated_SNPs_15972 2 Benign Primary Microcephaly, Recessive RCV000300029.1
1628 chr15 45901116 45901116 1 + C T rs13376 45901100 + 45901080 45901120 41 TTGATATAGTCAGACTTAAGACTGAACCCCAGTAGACAGGC TTGATATAGTCAGACTTAAGACTGAACCCCAGTAGATAGGC < 41bp 1 0.325517047978077 1 0.350964277982712 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 37 BLOC1S6 ENSG00000104164 UTR3 Human protein_coding chr15:45901100 chr15:45901116 . . 0 hm6A_associated_SNPs_16081 1 Benign Hermansky-Pudlak syndrome RCV000344973.1
1629 chr15 45901527 45901527 1 + A C rs188301800 45901546 + 45901526 45901566 41 CAAAACAAACAAACAAACAAACAACGTATCTTACTGACTAA CCAAACAAACAAACAAACAAACAACGTATCTTACTGACTAA < 41bp 1 0.316227647534267 1 0.335942089557648 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 2 BLOC1S6 ENSG00000104164 UTR3 Human protein_coding chr15:45901546 chr15:45901527 . . 0 hm6A_associated_SNPs_16082 1 Uncertain significance Hermansky-Pudlak syndrome RCV000396809.1
1630 chr15 48559802 48559802 1 + G A rs150609105 48559789 + 48559769 48559809 41 ACTGTGTGTTAAGGAGATGAACAGTGGCATGGCGAAAAAAC ACTGTGTGTTAAGGAGATGAACAGTGGCATGGCAAAAAAAC < 41bp 1 0.118719482822522 1 0.689660429954529 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 34 SLC12A1 ENSG00000074803 CDS Human protein_coding chr15:48559789 chr15:48559802 synonymous SNV . 0 hm6A_associated_SNPs_16087 1 Uncertain significance Antenatal Bartter Syndrome RCV000354337.1
1631 chr15 63336291 63336291 1 + C T rs17850194 63336279 + 63336259 63336299 41 CTCAAGGGCACCGAAGATGAACTGGACAAATACTCTGAGGC CTCAAGGGCACCGAAGATGAACTGGACAAATATTCTGAGGC < 41bp 1 0.460017886814914 1 0.998935282230377 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 TPM1 ENSG00000140416 CDS Human protein_coding chr15:63336279 chr15:63336291 synonymous SNV . 0 hm6A_associated_SNPs_16166 3 other not specified RCV000036317.4
1632 chr15 63336291 63336291 1 + C T rs17850194 63336279 + 63336259 63336299 41 CTCAAGGGCACCGAAGATGAACTGGACAAATACTCTGAGGC CTCAAGGGCACCGAAGATGAACTGGACAAATATTCTGAGGC < 41bp 1 0.460017886814914 1 0.998935282230377 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 TPM1 ENSG00000140416 CDS Human protein_coding chr15:63336279 chr15:63336291 synonymous SNV . 0 hm6A_associated_SNPs_16166 3 Benign Hypertrophic cardiomyopathy RCV000226718.2
1633 chr15 63336291 63336291 1 + C T rs17850194 63336279 + 63336259 63336299 41 CTCAAGGGCACCGAAGATGAACTGGACAAATACTCTGAGGC CTCAAGGGCACCGAAGATGAACTGGACAAATATTCTGAGGC < 41bp 1 0.460017886814914 1 0.998935282230377 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 TPM1 ENSG00000140416 CDS Human protein_coding chr15:63336279 chr15:63336291 synonymous SNV . 0 hm6A_associated_SNPs_16166 3 Likely benign Cardiovascular phenotype RCV000252086.1
1634 chr15 65917349 65917349 1 + G C rs34363823 65917346 + 65917326 65917366 41 ACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACCCCA ACCCGAAGACTCCCCAGGGAACACTCCTGTTGCATACCCCA < 41bp 1 0.738639469848738 1 0.970620274543762 experiment 0.522721060302524 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 SLC24A1 ENSG00000074621 CDS Human protein_coding chr15:65917346 chr15:65917349 nonsynonymous SNV 0.004 1 hm6A_associated_SNPs_16186 2 Benign not specified RCV000175787.2
1635 chr15 65917349 65917349 1 + G C rs34363823 65917346 + 65917326 65917366 41 ACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACCCCA ACCCGAAGACTCCCCAGGGAACACTCCTGTTGCATACCCCA < 41bp 1 0.738639469848738 1 0.970620274543762 experiment 0.522721060302524 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 SLC24A1 ENSG00000074621 CDS Human protein_coding chr15:65917346 chr15:65917349 nonsynonymous SNV 0.004 1 hm6A_associated_SNPs_16186 2 Likely benign Congenital Stationary Night Blindness, Recessive RCV000323036.1
1636 chr15 65917355 65917355 1 + T G rs35571449 65917346 + 65917326 65917366 41 ACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACCCCA ACCCGAAGACTCCCCAGGGAACAGTCCTGGTGCATACCCCA < 41bp 1 0.764422245857722 1 0.977269172668457 experiment 0.471155508284556 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 SLC24A1 ENSG00000074621 CDS Human protein_coding chr15:65917346 chr15:65917355 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_16187 2 Benign not specified RCV000246072.1
1637 chr15 65917355 65917355 1 + T G rs35571449 65917346 + 65917326 65917366 41 ACCCGAAGACTCCCCAGGGAACAGTCCTGTTGCATACCCCA ACCCGAAGACTCCCCAGGGAACAGTCCTGGTGCATACCCCA < 41bp 1 0.764422245857722 1 0.977269172668457 experiment 0.471155508284556 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 SLC24A1 ENSG00000074621 CDS Human protein_coding chr15:65917346 chr15:65917355 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_16187 2 Likely benign Congenital Stationary Night Blindness, Recessive RCV000379969.1
1638 chr15 67483192 67483192 1 + G A rs79368607 67483197 + 67483177 67483217 41 CCAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACA CCAGACTCTTTTTTTAAGTGACAGCTTTCTGGGATGTCACA < 41bp 1 0.660960761638712 1 0.649716198444366 experiment 0.678078476722577 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 16 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483197 chr15:67483192 . . 0 hm6A_associated_SNPs_16200 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000285024.1
1639 chr15 67483192 67483192 1 + G A rs79368607 67483197 + 67483177 67483217 41 CCAGACTCTTTTTTTGAGTGACAGCTTTCTGGGATGTCACA CCAGACTCTTTTTTTAAGTGACAGCTTTCTGGGATGTCACA < 41bp 1 0.660960761638712 1 0.649716198444366 experiment 0.678078476722577 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 16 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483197 chr15:67483192 . . 0 hm6A_associated_SNPs_16200 2 Likely benign Loeys-Dietz syndrome RCV000339991.1
1640 chr15 67483293 67483293 1 + G T rs78329172 67483311 + 67483291 67483331 41 GAGCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGA GATCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGA < 41bp 1 0.520997245965063 1 0.807539105415344 experiment 0.958005508069874 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 3 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483311 chr15:67483293 . . 0 hm6A_associated_SNPs_16201 2 Likely benign Loeys-Dietz syndrome RCV000343683.1
1641 chr15 67483293 67483293 1 + G T rs78329172 67483311 + 67483291 67483331 41 GAGCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGA GATCCCGCAGGGCCATGCAGACCTCATGCCCAGCTCTCTGA < 41bp 1 0.520997245965063 1 0.807539105415344 experiment 0.958005508069874 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 3 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483311 chr15:67483293 . . 0 hm6A_associated_SNPs_16201 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000391452.1
1642 chr15 67483528 67483528 1 + A G rs571689385 67483513 + 67483493 67483533 41 GGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACAGCGGG GGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACGGCGGG < 41bp 1 0.411394121835776 1 0.910468339920044 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483513 chr15:67483528 . . 0 hm6A_associated_SNPs_16203 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000292705.1
1643 chr15 67483528 67483528 1 + A G rs571689385 67483513 + 67483493 67483533 41 GGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACAGCGGG GGAGGTGCGTGTTCAGCAGAACCTGCACACAGGACGGCGGG < 41bp 1 0.411394121835776 1 0.910468339920044 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67483513 chr15:67483528 . . 0 hm6A_associated_SNPs_16203 2 Likely benign Loeys-Dietz syndrome RCV000384686.1
1644 chr15 67484679 67484679 1 + T C rs191114875 67484672 + 67484652 67484692 41 GAGACGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCT GAGACGGAAGGAGCACCTTGACAGACTCGTGTGAGTCTTCT < 41bp 1 0.342648621150669 1 0.945802569389343 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 28 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67484672 chr15:67484679 . . 0 hm6A_associated_SNPs_16205 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000301316.1
1645 chr15 67484679 67484679 1 + T C rs191114875 67484672 + 67484652 67484692 41 GAGACGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCT GAGACGGAAGGAGCACCTTGACAGACTCGTGTGAGTCTTCT < 41bp 1 0.342648621150669 1 0.945802569389343 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 28 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67484672 chr15:67484679 . . 0 hm6A_associated_SNPs_16205 2 Likely benign Loeys-Dietz syndrome RCV000358420.1
1646 chr15 67484679 67484679 1 + T C rs191114875 67484676 + 67484656 67484696 41 CGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCTCGAA CGGAAGGAGCACCTTGACAGACTCGTGTGAGTCTTCTCGAA < 41bp 1 0.529086371948682 1 0.976385951042175 experiment 0.941827256102636 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67484676 chr15:67484679 . . 0 hm6A_associated_SNPs_16206 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000301316.1
1647 chr15 67484679 67484679 1 + T C rs191114875 67484676 + 67484656 67484696 41 CGGAAGGAGCACCTTGACAGACTTGTGTGAGTCTTCTCGAA CGGAAGGAGCACCTTGACAGACTCGTGTGAGTCTTCTCGAA < 41bp 1 0.529086371948682 1 0.976385951042175 experiment 0.941827256102636 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 24 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67484676 chr15:67484679 . . 0 hm6A_associated_SNPs_16206 2 Likely benign Loeys-Dietz syndrome RCV000358420.1
1648 chr15 67485116 67485116 1 + A G rs117707762 67485135 + 67485115 67485155 41 TATACTTTGGCAGGTTATGAACTTTGAATGTGATGAAATGA TGTACTTTGGCAGGTTATGAACTTTGAATGTGATGAAATGA < 41bp 1 0.346018551382063 1 0.963354647159576 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 2 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67485135 chr15:67485116 . . 0 hm6A_associated_SNPs_16207 2 Likely benign Loeys-Dietz syndrome RCV000292142.1
1649 chr15 67485116 67485116 1 + A G rs117707762 67485135 + 67485115 67485155 41 TATACTTTGGCAGGTTATGAACTTTGAATGTGATGAAATGA TGTACTTTGGCAGGTTATGAACTTTGAATGTGATGAAATGA < 41bp 1 0.346018551382063 1 0.963354647159576 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 2 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67485135 chr15:67485116 . . 0 hm6A_associated_SNPs_16207 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000386982.1
1650 chr15 67485156 67485156 1 + C T rs12595334 67485155 + 67485135 67485175 41 ACTTTGAATGTGATGAAATGACACGTTTGGCTGCATTTGGA ACTTTGAATGTGATGAAATGATACGTTTGGCTGCATTTGGA Direct Loss 1 0.437098245860095 1 0.852495789527893 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 22 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67485155 chr15:67485156 . . 0 hm6A_associated_SNPs_16208 2 Benign Loeys-Dietz syndrome RCV000285382.1
1651 chr15 67485156 67485156 1 + C T rs12595334 67485155 + 67485135 67485175 41 ACTTTGAATGTGATGAAATGACACGTTTGGCTGCATTTGGA ACTTTGAATGTGATGAAATGATACGTTTGGCTGCATTTGGA Direct Loss 1 0.437098245860095 1 0.852495789527893 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 22 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67485155 chr15:67485156 . . 0 hm6A_associated_SNPs_16208 2 Benign Thoracic aortic aneurysm and aortic dissection RCV000400652.1
1652 chr15 67485911 67485911 1 + C G rs145645018 67485915 + 67485895 67485935 41 CCTGGCAGGCTGTAGACCTGACATTTTGAGACAAGCCTAGA CCTGGCAGGCTGTAGAGCTGACATTTTGAGACAAGCCTAGA < 41bp 1 0.612217877280846 1 0.245940119028091 experiment 0.775564245438308 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 17 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67485915 chr15:67485911 . . 0 hm6A_associated_SNPs_16209 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000261935.1
1653 chr15 67485911 67485911 1 + C G rs145645018 67485915 + 67485895 67485935 41 CCTGGCAGGCTGTAGACCTGACATTTTGAGACAAGCCTAGA CCTGGCAGGCTGTAGAGCTGACATTTTGAGACAAGCCTAGA < 41bp 1 0.612217877280846 1 0.245940119028091 experiment 0.775564245438308 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 17 SMAD3 ENSG00000166949 UTR3 Human protein_coding chr15:67485915 chr15:67485911 . . 0 hm6A_associated_SNPs_16209 2 Likely benign Loeys-Dietz syndrome RCV000376788.1
1654 chr15 74219546 74219546 1 + G T rs1048661 74219528 + 74219508 74219548 41 GCGCGAGGTGGCCGTCGGGGACAGCACGGGCATGGCCCGGG GCGCGAGGTGGCCGTCGGGGACAGCACGGGCATGGCCCTGG < 41bp 1 0.473816713697611 1 0.988393068313599 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 39 LOXL1 ENSG00000129038 CDS Human protein_coding chr15:74219528 chr15:74219546 nonsynonymous SNV 0.983 1 hm6A_associated_SNPs_16265 1 other Exfoliation syndrome, susceptibility to RCV000015434.2
1655 chr15 75189489 75189489 1 + C T rs117089191 75189469 + 75189449 75189489 41 TACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACAC TACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACAT < 41bp 1 0.603104916298824 1 0.34916490316391 experiment 0.793790167402353 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 41 MPI ENSG00000178802 CDS Human protein_coding chr15:75189469 chr15:75189489 nonsynonymous SNV 0.982 1 hm6A_associated_SNPs_16273 3 other not specified RCV000080017.5
1656 chr15 75189489 75189489 1 + C T rs117089191 75189469 + 75189449 75189489 41 TACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACAC TACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACAT < 41bp 1 0.603104916298824 1 0.34916490316391 experiment 0.793790167402353 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 41 MPI ENSG00000178802 CDS Human protein_coding chr15:75189469 chr15:75189489 nonsynonymous SNV 0.982 1 hm6A_associated_SNPs_16273 3 Likely benign not provided RCV000224183.1
1657 chr15 75189489 75189489 1 + C T rs117089191 75189469 + 75189449 75189489 41 TACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACAC TACCCCTAGCTCCAGCAAGGACAGGCTCTTTCTCCCAACAT < 41bp 1 0.603104916298824 1 0.34916490316391 experiment 0.793790167402353 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 41 MPI ENSG00000178802 CDS Human protein_coding chr15:75189469 chr15:75189489 nonsynonymous SNV 0.982 1 hm6A_associated_SNPs_16273 3 Uncertain significance Congenital disorder of glycosylation RCV000333198.1
1658 chr15 80478589 80478589 1 + A C rs1049181 80478574 + 80478554 80478594 41 TTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCACCCCT TTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCCCCCCT < 41bp 1 0.586637365375084 1 0.24913826584816 experiment 0.826725269249833 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 36 FAH ENSG00000103876 UTR3 Human protein_coding chr15:80478574 chr15:80478589 . . 0 hm6A_associated_SNPs_16329 1 Benign not specified RCV000247693.1
1659 chr15 80478591 80478591 1 + C T rs3210172 80478574 + 80478554 80478594 41 TTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCACCCCT TTTTCTCTGCTCTTCTGGAAACAAAGGGCTCAAGCACTCCT < 41bp 1 0.583794729277766 1 0.29860919713974 experiment 0.832410541444467 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 38 FAH ENSG00000103876 UTR3 Human protein_coding chr15:80478574 chr15:80478591 . . 0 hm6A_associated_SNPs_16331 1 Benign not specified RCV000252648.1
1660 chr15 80478639 80478639 1 + C T rs113381157 80478652 + 80478632 80478672 41 GCCTGGTCCGCCATTCAGTGACAAATAAAGCCATTGTGCTC GCCTGGTTCGCCATTCAGTGACAAATAAAGCCATTGTGCTC < 41bp 1 0.605731439269123 1 0.48698952794075 experiment 0.788537121461754 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 8 FAH ENSG00000103876 UTR3 Human protein_coding chr15:80478652 chr15:80478639 . . 0 hm6A_associated_SNPs_16334 1 Likely benign Hypertyrosinemia RCV000295391.1
1661 chr15 80478645 80478645 1 + T C rs1049194 80478652 + 80478632 80478672 41 GCCTGGTCCGCCATTCAGTGACAAATAAAGCCATTGTGCTC GCCTGGTCCGCCACTCAGTGACAAATAAAGCCATTGTGCTC < 41bp 1 0.565711461601218 1 0.492575645446777 experiment 0.868577076797563 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 14 FAH ENSG00000103876 UTR3 Human protein_coding chr15:80478652 chr15:80478645 . . 0 hm6A_associated_SNPs_16335 1 Likely benign Hypertyrosinemia RCV000350427.1
1662 chr15 89805073 89805073 1 + G A rs112387610 89805080 + 89805060 89805100 41 AGTGGGGAAGAATGTAAGAAACAGTTGATTAACACCCTGTG AGTGGGGAAGAATATAAGAAACAGTTGATTAACACCCTGTG < 41bp 1 0.337608430545309 1 0.0436865389347076 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 14 FANCI ENSG00000140525 CDS Human protein_coding chr15:89805080 chr15:89805073 nonsynonymous SNV 0.991 0 hm6A_associated_SNPs_16407 1 Uncertain significance Fanconi anemia RCV000268016.2
1663 chr15 89805073 89805073 1 + G A rs112387610 89805091 + 89805071 89805111 41 ATGTAAGAAACAGTTGATTAACACCCTGTGTTCTGGCAGGT ATATAAGAAACAGTTGATTAACACCCTGTGTTCTGGCAGGT < 41bp 1 0.382011417896119 1 0.00825762748718262 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 3 FANCI ENSG00000140525 CDS Human protein_coding chr15:89805091 chr15:89805073 nonsynonymous SNV 0.991 0 hm6A_associated_SNPs_16408 1 Uncertain significance Fanconi anemia RCV000268016.2
1664 chr15 89811742 89811742 1 + G A rs113772230 89811726 + 89811706 89811746 41 GCCATCAAATTGGACTATGAACTAGGCAGAGAACTCGTGAA GCCATCAAATTGGACTATGAACTAGGCAGAGAACTCATGAA < 41bp 1 0.320595084651481 1 0.881402730941772 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 FANCI ENSG00000140525 CDS Human protein_coding chr15:89811726 chr15:89811742 nonsynonymous SNV 0.935 0 hm6A_associated_SNPs_16409 1 other Fanconi anemia RCV000348338.1
1665 chr15 89811742 89811742 1 + G A rs113772230 89811738 + 89811718 89811758 41 GACTATGAACTAGGCAGAGAACTCGTGAAACACTTAAAGGT GACTATGAACTAGGCAGAGAACTCATGAAACACTTAAAGGT < 41bp 1 0.161912795659094 1 0.57782369852066 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 25 FANCI ENSG00000140525 CDS Human protein_coding chr15:89811738 chr15:89811742 nonsynonymous SNV 0.935 0 hm6A_associated_SNPs_16410 1 other Fanconi anemia RCV000348338.1
1666 chr15 89811742 89811742 1 + G A rs113772230 89811747 + 89811727 89811767 41 CTAGGCAGAGAACTCGTGAAACACTTAAAGGTAGCATCAAA CTAGGCAGAGAACTCATGAAACACTTAAAGGTAGCATCAAA < 41bp 1 0.344078156728571 1 0.553836464881897 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 FANCI ENSG00000140525 CDS Human protein_coding chr15:89811747 chr15:89811742 nonsynonymous SNV 0.935 0 hm6A_associated_SNPs_16411 1 other Fanconi anemia RCV000348338.1
1667 chr15 89821950 89821950 1 + G A rs34405660 89821935 + 89821915 89821955 41 TAGATCCATGAGATGATCAGACAAGAAATTTTGGAGCAGGT TAGATCCATGAGATGATCAGACAAGAAATTTTGGAACAGGT < 41bp 1 0.746291683738026 1 0.0899119675159454 experiment 0.507416632523949 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 36 FANCI ENSG00000140525 CDS Human protein_coding chr15:89821935 chr15:89821950 synonymous SNV . 0 hm6A_associated_SNPs_16412 2 other Fanconi anemia RCV000360604.1
1668 chr15 89821950 89821950 1 + G A rs34405660 89821935 + 89821915 89821955 41 TAGATCCATGAGATGATCAGACAAGAAATTTTGGAGCAGGT TAGATCCATGAGATGATCAGACAAGAAATTTTGGAACAGGT < 41bp 1 0.746291683738026 1 0.0899119675159454 experiment 0.507416632523949 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 36 FANCI ENSG00000140525 CDS Human protein_coding chr15:89821935 chr15:89821950 synonymous SNV . 0 hm6A_associated_SNPs_16412 2 Likely benign not specified RCV000504421.1
1669 chr15 89838318 89838318 1 + A T rs35875311 89838316 + 89838296 89838336 41 GATCTTTCAGAACCTCTGTGACATAACTCGGTAAGCCACTC GATCTTTCAGAACCTCTGTGACTTAACTCGGTAAGCCACTC < 41bp 1 0.087145100080281 1 0.0536609888076782 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 23 FANCI ENSG00000140525 CDS Human protein_coding chr15:89838316 chr15:89838318 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_16415 2 Benign not specified RCV000252318.1
1670 chr15 89838318 89838318 1 + A T rs35875311 89838316 + 89838296 89838336 41 GATCTTTCAGAACCTCTGTGACATAACTCGGTAAGCCACTC GATCTTTCAGAACCTCTGTGACTTAACTCGGTAAGCCACTC < 41bp 1 0.087145100080281 1 0.0536609888076782 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 23 FANCI ENSG00000140525 CDS Human protein_coding chr15:89838316 chr15:89838318 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_16415 2 Likely benign Fanconi anemia RCV000397179.1
1671 chr15 89859994 89859994 1 + C A rs3087374 89859988 - 89859968 89860008 41 GAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGC GAAAAACGAAGCCATCCTGGACCATAGCACTGCCTGGAGGC < 41bp 1 0.752876940713135 1 0.825282692909241 experiment 0.494246118573729 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 POLG ENSG00000140521 CDS Human protein_coding chr15:89859988 chr15:89859994 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_16419 4 Benign Mitochondrial diseases RCV000020480.1
1672 chr15 89859994 89859994 1 + C A rs3087374 89859988 - 89859968 89860008 41 GAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGC GAAAAACGAAGCCATCCTGGACCATAGCACTGCCTGGAGGC < 41bp 1 0.752876940713135 1 0.825282692909241 experiment 0.494246118573729 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 POLG ENSG00000140521 CDS Human protein_coding chr15:89859988 chr15:89859994 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_16419 4 Benign not specified RCV000118022.3
1673 chr15 89859994 89859994 1 + C A rs3087374 89859988 - 89859968 89860008 41 GAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGC GAAAAACGAAGCCATCCTGGACCATAGCACTGCCTGGAGGC < 41bp 1 0.752876940713135 1 0.825282692909241 experiment 0.494246118573729 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 POLG ENSG00000140521 CDS Human protein_coding chr15:89859988 chr15:89859994 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_16419 4 Likely benign Fanconi anemia RCV000291582.1
1674 chr15 89859994 89859994 1 + C A rs3087374 89859988 - 89859968 89860008 41 GAAAAACGAAGCCAGCCTGGACCATAGCACTGCCTGGAGGC GAAAAACGAAGCCATCCTGGACCATAGCACTGCCTGGAGGC < 41bp 1 0.752876940713135 1 0.825282692909241 experiment 0.494246118573729 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 POLG ENSG00000140521 CDS Human protein_coding chr15:89859988 chr15:89859994 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_16419 4 Likely benign POLG-Related Spectrum Disorders RCV000327842.1
1675 chr15 89860349 89860349 1 + T C rs1860021 89860358 + 89860338 89860378 41 ATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAG ATAGAATAAATCATCTTTAAACATTTCTTCTGTGGTTGAAG < 41bp 1 0.0514483077781587 1 0.0138449668884277 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown 12 FANCI ENSG00000140525 UTR3 Human protein_coding chr15:89860358 chr15:89860349 . . 0 hm6A_associated_SNPs_16421 2 Benign Fanconi anemia RCV000328504.1
1676 chr15 89860349 89860349 1 + T C rs1860021 89860358 + 89860338 89860378 41 ATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAG ATAGAATAAATCATCTTTAAACATTTCTTCTGTGGTTGAAG < 41bp 1 0.0514483077781587 1 0.0138449668884277 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown 12 FANCI ENSG00000140525 UTR3 Human protein_coding chr15:89860358 chr15:89860349 . . 0 hm6A_associated_SNPs_16421 2 Likely benign POLG-Related Spectrum Disorders RCV000364559.1
1677 chr15 89860350 89860350 1 + A C rs1061316 89860358 + 89860338 89860378 41 ATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAG ATAGAATAAATTCTCTTTAAACATTTCTTCTGTGGTTGAAG < 41bp 1 0.0407676847255139 1 0.0201895833015442 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown 13 FANCI ENSG00000140525 UTR3 Human protein_coding chr15:89860358 chr15:89860350 . . 0 hm6A_associated_SNPs_16422 2 Benign Fanconi anemia RCV000274297.1
1678 chr15 89860350 89860350 1 + A C rs1061316 89860358 + 89860338 89860378 41 ATAGAATAAATTATCTTTAAACATTTCTTCTGTGGTTGAAG ATAGAATAAATTCTCTTTAAACATTTCTTCTGTGGTTGAAG < 41bp 1 0.0407676847255139 1 0.0201895833015442 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown 13 FANCI ENSG00000140525 UTR3 Human protein_coding chr15:89860358 chr15:89860350 . . 0 hm6A_associated_SNPs_16422 2 Benign POLG-Related Spectrum Disorders RCV000331693.1
1679 chr15 91293113 91293113 1 + G A rs28903082 91293103 + 91293083 91293123 41 AGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGC AGCACAGCTTTATACAACAAACACAGTAAAAACTGATTTGC < 41bp 1 0.774329697816623 1 0.934588730335236 experiment 0.451340604366754 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 31 BLM ENSG00000197299 CDS Human protein_coding chr15:91293103 chr15:91293113 synonymous SNV . 0 hm6A_associated_SNPs_16475 2 other not specified RCV000123841.3
1680 chr15 91293113 91293113 1 + G A rs28903082 91293103 + 91293083 91293123 41 AGCACAGCTTTATACAACAAACACAGTAAAGACTGATTTGC AGCACAGCTTTATACAACAAACACAGTAAAAACTGATTTGC < 41bp 1 0.774329697816623 1 0.934588730335236 experiment 0.451340604366754 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 31 BLM ENSG00000197299 CDS Human protein_coding chr15:91293103 chr15:91293113 synonymous SNV . 0 hm6A_associated_SNPs_16475 2 Benign Bloom syndrome RCV000234095.2
1681 chr15 91293113 91293113 1 + G A rs28903082 91293114 + 91293094 91293134 41 ATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCC ATACAACAAACACAGTAAAAACTGATTTGCCTCCACCCTCC < 41bp 1 0.772799073386072 1 0.98356157541275 experiment 0.454401853227856 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 20 BLM ENSG00000197299 CDS Human protein_coding chr15:91293114 chr15:91293113 synonymous SNV . 0 hm6A_associated_SNPs_16476 2 other not specified RCV000123841.3
1682 chr15 91293113 91293113 1 + G A rs28903082 91293114 + 91293094 91293134 41 ATACAACAAACACAGTAAAGACTGATTTGCCTCCACCCTCC ATACAACAAACACAGTAAAAACTGATTTGCCTCCACCCTCC < 41bp 1 0.772799073386072 1 0.98356157541275 experiment 0.454401853227856 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 20 BLM ENSG00000197299 CDS Human protein_coding chr15:91293114 chr15:91293113 synonymous SNV . 0 hm6A_associated_SNPs_16476 2 Benign Bloom syndrome RCV000234095.2
1683 chr15 91304204 91304204 1 + A G rs35224686 91304208 + 91304188 91304228 41 GCTGTGAAAGATCAGAATAAACATACTGCTTCAATAAATGA GCTGTGAAAGATCAGAGTAAACATACTGCTTCAATAAATGA < 41bp 1 0.775530532649502 1 0.959521055221558 experiment 0.448938934700997 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 17 BLM ENSG00000197299 CDS Human protein_coding chr15:91304208 chr15:91304204 nonsynonymous SNV 0.986 0 hm6A_associated_SNPs_16477 2 other not specified RCV000115283.3
1684 chr15 91304204 91304204 1 + A G rs35224686 91304208 + 91304188 91304228 41 GCTGTGAAAGATCAGAATAAACATACTGCTTCAATAAATGA GCTGTGAAAGATCAGAGTAAACATACTGCTTCAATAAATGA < 41bp 1 0.775530532649502 1 0.959521055221558 experiment 0.448938934700997 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 17 BLM ENSG00000197299 CDS Human protein_coding chr15:91304208 chr15:91304204 nonsynonymous SNV 0.986 0 hm6A_associated_SNPs_16477 2 Likely benign Bloom syndrome RCV000465434.1
1685 chr15 91347451 91347451 1 + G A rs28385141 91347438 + 91347418 91347458 41 AATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAGTAGCAAA AATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAATAGCAAA < 41bp 1 0.579455873195623 1 0.00796076655387878 experiment 0.841088253608753 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;Control 34 BLM ENSG00000197299 CDS Human protein_coding chr15:91347438 chr15:91347451 nonsynonymous SNV 0.994 0 hm6A_associated_SNPs_16478 2 not provided not specified RCV000120230.1
1686 chr15 91347451 91347451 1 + G A rs28385141 91347438 + 91347418 91347458 41 AATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAGTAGCAAA AATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAATAGCAAA < 41bp 1 0.579455873195623 1 0.00796076655387878 experiment 0.841088253608753 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;Control 34 BLM ENSG00000197299 CDS Human protein_coding chr15:91347438 chr15:91347451 nonsynonymous SNV 0.994 0 hm6A_associated_SNPs_16478 2 Likely benign Bloom syndrome RCV000226406.2
1687 chr15 93470509 93470509 1 + G A rs138626801 93470527 + 93470507 93470547 41 AGGCGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAA AGACGGTCAAACCGAAGCAGACAAGAACCATCGCGATTTAA < 41bp 1 0.532686294501323 1 0.516239881515503 experiment 0.934627410997354 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 3 CHD2 ENSG00000173575 CDS Human protein_coding chr15:93470527 chr15:93470509 synonymous SNV . 0 hm6A_associated_SNPs_16499 1 Benign not specified RCV000423100.1
1688 chr15 93528805 93528805 1 + G A rs138979360 93528822 + 93528802 93528842 41 AACGGAAGACTCTGATGATGACAAGAAGCCAAAGCGCAGAG AACAGAAGACTCTGATGATGACAAGAAGCCAAAGCGCAGAG < 41bp 1 0.450534700695108 1 0.821186780929565 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 4 CHD2 ENSG00000173575 CDS Human protein_coding chr15:93528822 chr15:93528805 synonymous SNV . 0 hm6A_associated_SNPs_16500 1 Likely benign not specified RCV000440729.1
1689 chr15 93528811 93528811 1 + C T rs141018126 93528822 + 93528802 93528842 41 AACGGAAGACTCTGATGATGACAAGAAGCCAAAGCGCAGAG AACGGAAGATTCTGATGATGACAAGAAGCCAAAGCGCAGAG < 41bp 1 0.465836807037988 1 0.865656614303589 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 10 CHD2 ENSG00000173575 CDS Human protein_coding chr15:93528822 chr15:93528811 synonymous SNV . 0 hm6A_associated_SNPs_16501 1 Likely benign not specified RCV000420147.1
1690 chr15 99452002 99452002 1 + A G rs117440569 99451984 + 99451964 99452004 41 ACTGGGACCACCGCAACCTGACCATCAAAGCAGGGAAAATG ACTGGGACCACCGCAACCTGACCATCAAAGCAGGGAAAGTG < 41bp 1 0.209939264831261 1 0.973420858383179 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 IGF1R ENSG00000140443 CDS Human protein_coding chr15:99451984 chr15:99452002 nonsynonymous SNV 0.961 1 hm6A_associated_SNPs_16520 1 Likely benign not specified RCV000352493.1
1691 chr15 99459278 99459278 1 + C T rs45506098 99459259 + 99459239 99459279 41 TCAGTTAATCGTGAAGTGGAACCCTCCCTCTCTGCCCAACG TCAGTTAATCGTGAAGTGGAACCCTCCCTCTCTGCCCAATG < 41bp 1 0.0687220078853925 1 0.632878720760345 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 IGF1R ENSG00000140443 CDS Human protein_coding chr15:99459259 chr15:99459278 synonymous SNV . 0 hm6A_associated_SNPs_16521 1 Benign not specified RCV000180532.1
1692 chr15 99500492 99500492 1 + G A rs542567372 99500484 + 99500464 99500504 41 CATGGAGAGCGTCCCCCTGGACCCCTCGGCCTCCTCGTCCT CATGGAGAGCGTCCCCCTGGACCCCTCGACCTCCTCGTCCT < 41bp 1 0.597317668923988 1 0.999260783195496 experiment 0.805364662152024 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 29 IGF1R ENSG00000140443 CDS Human protein_coding chr15:99500484 chr15:99500492 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_16523 1 Uncertain significance Insulin-Like Growth Factor I Resistance RCV000296827.1
1693 chr15 99500805 99500805 1 + C T rs55945252 99500790 + 99500770 99500810 41 TACCTCAGTGGATCTTCAGAACTGCCCTTGCTGCCCGCGGG TACCTCAGTGGATCTTCAGAACTGCCCTTGCTGCCTGCGGG < 41bp 1 0.537451729138073 1 0.991222679615021 experiment 0.925096541723853 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 36 IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99500790 chr15:99500805 . . 0 hm6A_associated_SNPs_16524 1 Uncertain significance Insulin-Like Growth Factor I Resistance RCV000275927.1
1694 chr15 99500805 99500805 1 + C T rs55945252 99500813 + 99500793 99500833 41 GCCCTTGCTGCCCGCGGGAGACAGCTTCTCTGCAGTAAAAC GCCCTTGCTGCCTGCGGGAGACAGCTTCTCTGCAGTAAAAC < 41bp 1 0.47618114121883 1 0.986127138137817 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 13 IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99500813 chr15:99500805 . . 0 hm6A_associated_SNPs_16525 1 Uncertain significance Insulin-Like Growth Factor I Resistance RCV000275927.1
1695 chr15 99504843 99504843 1 + C T rs2654980 99504861 + 99504841 99504881 41 CACTGCTTGAAGTCATATGAACCACTGAGGCACATCATGGA CATTGCTTGAAGTCATATGAACCACTGAGGCACATCATGGA < 41bp 1 0.372519739712934 1 0.96443498134613 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 3 IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99504861 chr15:99504843 . . 0 hm6A_associated_SNPs_16534 1 Likely benign Insulin-Like Growth Factor I Resistance RCV000321509.1
1696 chr15 99504857 99504857 1 + A G rs565316919 99504861 + 99504841 99504881 41 CACTGCTTGAAGTCATATGAACCACTGAGGCACATCATGGA CACTGCTTGAAGTCATGTGAACCACTGAGGCACATCATGGA < 41bp 1 0.322101794267704 1 0.962034702301025 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99504861 chr15:99504857 . . 0 hm6A_associated_SNPs_16535 1 Uncertain significance Insulin-Like Growth Factor I Resistance RCV000376185.1
1697 chr15 99505184 99505184 1 + A G rs542634107 99505170 + 99505150 99505190 41 AGAAGAGCAGTCACTGTGGAACTACCAAATGGCGAGATGCT AGAAGAGCAGTCACTGTGGAACTACCAAATGGCGGGATGCT < 41bp 1 0.425179436999385 1 0.964577555656433 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 35 IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99505170 chr15:99505184 . . 0 hm6A_associated_SNPs_16537 1 Uncertain significance Insulin-Like Growth Factor I Resistance RCV000295096.1
1698 chr15 99505485 99505485 1 + C T rs2684786 99505476 + 99505456 99505496 41 ACACAGGCGCCCTCCTGGTGACAGTGACCCGCCGTGGTATG ACACAGGCGCCCTCCTGGTGACAGTGACCTGCCGTGGTATG < 41bp 1 0.541368909599186 1 0.908809244632721 experiment 0.917262180801627 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99505476 chr15:99505485 . . 0 hm6A_associated_SNPs_16539 1 Likely benign Insulin-Like Growth Factor I Resistance RCV000315862.1
1699 chr15 99505486 99505486 1 + G A rs145781849 99505476 + 99505456 99505496 41 ACACAGGCGCCCTCCTGGTGACAGTGACCCGCCGTGGTATG ACACAGGCGCCCTCCTGGTGACAGTGACCCACCGTGGTATG < 41bp 1 0.528192050347261 1 0.898118317127228 experiment 0.943615899305478 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 31 IGF1R ENSG00000259475 ncRNA_intronic Human antisense chr15:99505476 chr15:99505486 . . 0 hm6A_associated_SNPs_16540 1 Uncertain significance Insulin-Like Growth Factor I Resistance RCV000354301.1
1700 chr16 1270349 1270349 1 + T C rs4247094 1270366 + 1270346 1270386 41 GGATGCTCAGGGCTTCCTGGACAAGCCGGGCCGGGCAGACG GGACGCTCAGGGCTTCCTGGACAAGCCGGGCCGGGCAGACG < 41bp 1 0.673245391777905 1 0.99663633108139 experiment 0.65350921644419 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 4 CACNA1H ENSG00000196557 CDS Human protein_coding chr16:1270366 chr16:1270349 synonymous SNV . 0 hm6A_associated_SNPs_16627 1 Benign not specified RCV000082078.4
1701 chr16 1412704 1412704 1 + T C rs532275192 1412706 + 1412686 1412726 41 CCAGCTGGAGGGAGGTCCTGACAGCTTGGGGTTTGAGACCC CCAGCTGGAGGGAGGTCCCGACAGCTTGGGGTTTGAGACCC Direct Loss 1 0.650887416618014 1 0.963339447975159 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 19 GNPTG ENSG00000090581 CDS Human protein_coding chr16:1412706 chr16:1412704 synonymous SNV . 0 hm6A_associated_SNPs_16643 1 Uncertain significance Mucolipidosis, Type III Gamma RCV000351383.1
1702 chr16 1412715 1412715 1 + G A rs202080062 1412706 + 1412686 1412726 41 CCAGCTGGAGGGAGGTCCTGACAGCTTGGGGTTTGAGACCC CCAGCTGGAGGGAGGTCCTGACAGCTTGGAGTTTGAGACCC < 41bp 1 0.639612407263287 1 0.960869193077087 experiment 0.720775185473427 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 30 GNPTG ENSG00000090581 CDS Human protein_coding chr16:1412706 chr16:1412715 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_16644 1 Uncertain significance Mucolipidosis, Type III Gamma RCV000394180.1
1703 chr16 2122868 2122868 1 + C A rs45517221 2122865 + 2122845 2122885 41 ATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGC ATCAGCTTTCAGGCCCAAAGACAATGGAGCGGCTCCGAGGC < 41bp 1 0.709354224540091 1 0.814017415046692 experiment 0.581291550919818 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2122865 chr16:2122868 nonsynonymous SNV 0.780 2 hm6A_associated_SNPs_16700 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000220472.1
1704 chr16 2122925 2122925 1 + G A rs150672640 2122940 + 2122920 2122960 41 TGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCAT TGGCCATGGTTCCAGTGCTGACAGCATTAATCTCTTACCAT < 41bp 1 0.602980763425478 1 0.805510520935059 experiment 0.794038473149045 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2122940 chr16:2122925 nonsynonymous SNV 0.904 5 hm6A_associated_SNPs_16701 3 Likely benign Tuberous sclerosis 2 RCV000234604.1
1705 chr16 2122925 2122925 1 + G A rs150672640 2122940 + 2122920 2122960 41 TGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCAT TGGCCATGGTTCCAGTGCTGACAGCATTAATCTCTTACCAT < 41bp 1 0.602980763425478 1 0.805510520935059 experiment 0.794038473149045 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2122940 chr16:2122925 nonsynonymous SNV 0.904 5 hm6A_associated_SNPs_16701 3 Uncertain significance Tuberous sclerosis syndrome RCV000392158.1
1706 chr16 2122925 2122925 1 + G A rs150672640 2122940 + 2122920 2122960 41 TGGCCGTGGTTCCAGTGCTGACAGCATTAATCTCTTACCAT TGGCCATGGTTCCAGTGCTGACAGCATTAATCTCTTACCAT < 41bp 1 0.602980763425478 1 0.805510520935059 experiment 0.794038473149045 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2122940 chr16:2122925 nonsynonymous SNV 0.904 5 hm6A_associated_SNPs_16701 3 Likely benign not specified RCV000424173.1
1707 chr16 2134516 2134516 1 + G A rs45487992 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCAGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG < 41bp 1 0.689530059963763 1 0.965985596179962 experiment 0.620939880072473 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134516 synonymous SNV . 0 hm6A_associated_SNPs_16702 3 Likely benign Tuberous sclerosis syndrome RCV000042551.3
1708 chr16 2134516 2134516 1 + G A rs45487992 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCAGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG < 41bp 1 0.689530059963763 1 0.965985596179962 experiment 0.620939880072473 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134516 synonymous SNV . 0 hm6A_associated_SNPs_16702 3 other not specified RCV000125686.3
1709 chr16 2134516 2134516 1 + G A rs45487992 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCAGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG < 41bp 1 0.689530059963763 1 0.965985596179962 experiment 0.620939880072473 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134516 synonymous SNV . 0 hm6A_associated_SNPs_16702 3 Benign Tuberous sclerosis 2 RCV000233893.2
1710 chr16 2134539 2134539 1 + G A rs150397923 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCGGCCTCGGGCGAAGACAGTCGGGACCAGCCCGAGG < 41bp 1 0.723180641188071 1 0.972806394100189 experiment 0.553638717623858 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134539 nonsynonymous SNV 0.101 1 hm6A_associated_SNPs_16703 5 Likely benign Tuberous sclerosis syndrome RCV000055339.2
1711 chr16 2134539 2134539 1 + G A rs150397923 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCGGCCTCGGGCGAAGACAGTCGGGACCAGCCCGAGG < 41bp 1 0.723180641188071 1 0.972806394100189 experiment 0.553638717623858 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134539 nonsynonymous SNV 0.101 1 hm6A_associated_SNPs_16703 5 Benign not specified RCV000122235.4
1712 chr16 2134539 2134539 1 + G A rs150397923 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCGGCCTCGGGCGAAGACAGTCGGGACCAGCCCGAGG < 41bp 1 0.723180641188071 1 0.972806394100189 experiment 0.553638717623858 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134539 nonsynonymous SNV 0.101 1 hm6A_associated_SNPs_16703 5 Benign Hereditary cancer-predisposing syndrome RCV000163417.1
1713 chr16 2134539 2134539 1 + G A rs150397923 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCGGCCTCGGGCGAAGACAGTCGGGACCAGCCCGAGG < 41bp 1 0.723180641188071 1 0.972806394100189 experiment 0.553638717623858 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134539 nonsynonymous SNV 0.101 1 hm6A_associated_SNPs_16703 5 Likely benign not provided RCV000223969.1
1714 chr16 2134539 2134539 1 + G A rs150397923 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCGGCCTCGGGCGAAGACAGTCGGGACCAGCCCGAGG < 41bp 1 0.723180641188071 1 0.972806394100189 experiment 0.553638717623858 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134539 nonsynonymous SNV 0.101 1 hm6A_associated_SNPs_16703 5 Benign Tuberous sclerosis 2 RCV000226742.2
1715 chr16 2138086 2138086 1 + C A rs45483700 2138067 + 2138047 2138087 41 AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATAG < 41bp 1 0.592171618968939 1 0.967282176017761 experiment 0.815656762062122 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 40 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138067 chr16:2138086 synonymous SNV . 0 hm6A_associated_SNPs_16704 4 Likely benign Tuberous sclerosis syndrome RCV000043334.3
1716 chr16 2138086 2138086 1 + C A rs45483700 2138067 + 2138047 2138087 41 AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATAG < 41bp 1 0.592171618968939 1 0.967282176017761 experiment 0.815656762062122 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 40 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138067 chr16:2138086 synonymous SNV . 0 hm6A_associated_SNPs_16704 4 other not specified RCV000125699.4
1717 chr16 2138086 2138086 1 + C A rs45483700 2138067 + 2138047 2138087 41 AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATAG < 41bp 1 0.592171618968939 1 0.967282176017761 experiment 0.815656762062122 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 40 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138067 chr16:2138086 synonymous SNV . 0 hm6A_associated_SNPs_16704 4 Likely benign Hereditary cancer-predisposing syndrome RCV000163466.1
1718 chr16 2138086 2138086 1 + C A rs45483700 2138067 + 2138047 2138087 41 AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATAG < 41bp 1 0.592171618968939 1 0.967282176017761 experiment 0.815656762062122 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 40 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138067 chr16:2138086 synonymous SNV . 0 hm6A_associated_SNPs_16704 4 Benign Tuberous sclerosis 2 RCV000205066.3
1719 chr16 2546790 2546790 1 + G A rs200324356 2546781 + 2546761 2546801 41 TGTCCTGCAGGTCTATGCGGACTGGCAGCGCTGGCTGTTTG TGTCCTGCAGGTCTATGCGGACTGGCAGCACTGGCTGTTTG < 41bp 1 0.723822908468912 1 0.999930024147034 experiment 0.552354183062176 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 TBC1D24 ENSG00000162065;ENSG00000260272 CDS Human other chr16:2546781 chr16:2546790 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_16737 1 other not specified RCV000118580.6
1720 chr16 2548329 2548329 1 + C T rs75961715 2548310 + 2548290 2548330 41 CAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCG CAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCTG < 41bp 1 0.515513680385127 1 0.6786088347435 experiment 0.968972639229746 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2548310 chr16:2548329 stopgain . 0 hm6A_associated_SNPs_16738 2 Benign not specified RCV000128369.3
1721 chr16 2548329 2548329 1 + C T rs75961715 2548310 + 2548290 2548330 41 CAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCCG CAGCGTGAGGGAGATGAGAGACATCTGGTCCTGGGTCCCTG < 41bp 1 0.515513680385127 1 0.6786088347435 experiment 0.968972639229746 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 TBC1D24 ENSG00000162065 CDS Human protein_coding chr16:2548310 chr16:2548329 stopgain . 0 hm6A_associated_SNPs_16738 2 Uncertain significance Myoclonic epilepsy, familial infantile RCV000262163.1
1722 chr16 2555438 2555438 1 + C T rs1135527 2555424 + 2555404 2555444 41 TCACTTGTGATAAGGCACGGACAACATGAACTGGCAAAAAC TCACTTGTGATAAGGCACGGACAACATGAACTGGTAAAAAC < 41bp 1 0.301393215965824 1 0.875044882297516 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 35 TBC1D24 ENSG00000162065 UTR3 Human protein_coding chr16:2555424 chr16:2555438 . . 0 hm6A_associated_SNPs_16741 1 Uncertain significance Myoclonic epilepsy, familial infantile RCV000279789.1
1723 chr16 2555438 2555438 1 + C T rs1135527 2555433 + 2555413 2555453 41 ATAAGGCACGGACAACATGAACTGGCAAAAACATTGGCATT ATAAGGCACGGACAACATGAACTGGTAAAAACATTGGCATT < 41bp 1 0.0835335284530998 1 0.942737221717834 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 TBC1D24 ENSG00000162065 UTR3 Human protein_coding chr16:2555433 chr16:2555438 . . 0 hm6A_associated_SNPs_16742 1 Uncertain significance Myoclonic epilepsy, familial infantile RCV000279789.1
1724 chr16 5133717 5133717 1 + C T rs149319732 5133701 + 5133681 5133721 41 AGTTTACATGAGCTGGTGAAACATGAAGAAAATGGCCTGGT AGTTTACATGAGCTGGTGAAACATGAAGAAAATGGCTTGGT < 41bp 1 0.456895916763652 1 0.815988540649414 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 37 ALG1 ENSG00000033011 CDS Human protein_coding chr16:5133701 chr16:5133717 synonymous SNV . 0 hm6A_associated_SNPs_16920 1 Likely benign not specified RCV000431272.1
1725 chr16 8875799 8875799 1 + G A rs3743798 8875809 + 8875789 8875829 41 CATGGTGCAGGAGGGACTGGACAGATCTGAGGAAGGCCGTA CATGGTGCAGAAGGGACTGGACAGATCTGAGGAAGGCCGTA < 41bp 1 0.231144521070783 1 0.913667500019073 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 11 ABAT ENSG00000183044 UTR3 Human protein_coding chr16:8875809 chr16:8875799 . . 0 hm6A_associated_SNPs_16924 1 Benign Gamma-aminobutyric acid transaminase deficiency RCV000345259.1
1726 chr16 8941857 8941857 1 + G A rs2072688 8941847 + 8941827 8941867 41 TTCCACCTCCAGTGCCAGAAACTTCCAGAAGGAAGGAGAAA TTCCACCTCCAGTGCCAGAAACTTCCAGAAAGAAGGAGAAA < 41bp 1 0.782320387742684 1 0.948280811309814 experiment 0.435359224514632 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 31 PMM2 ENSG00000260350 ncRNA_intronic Human antisense chr16:8941847 chr16:8941857 . . 0 hm6A_associated_SNPs_16930 1 Likely benign Congenital disorder of glycosylation RCV000276181.1
1727 chr16 8941857 8941857 1 + G A rs2072688 8941868 + 8941848 8941888 41 CTTCCAGAAGGAAGGAGAAAACTCTTGTCAAGAATGGCCCA CTTCCAGAAAGAAGGAGAAAACTCTTGTCAAGAATGGCCCA < 41bp 1 0.749481283203272 1 0.937971830368042 experiment 0.501037433593456 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 10 PMM2 ENSG00000260350 ncRNA_intronic Human antisense chr16:8941868 chr16:8941857 . . 0 hm6A_associated_SNPs_16931 1 Likely benign Congenital disorder of glycosylation RCV000276181.1
1728 chr16 8942050 8942050 1 + C G rs72766379 8942058 + 8942038 8942078 41 CTCTTGGTGGGTCTGTGGAAACATAAGCGGTTTTTTTAATG CTCTTGGTGGGTGTGTGGAAACATAAGCGGTTTTTTTAATG < 41bp 1 0.548619598851926 1 0.834784150123596 experiment 0.902760802296148 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 13 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942058 chr16:8942050 . . 0 hm6A_associated_SNPs_16932 1 Uncertain significance Congenital disorder of glycosylation RCV000376802.1
1729 chr16 8942174 8942174 1 + C G rs548732618 8942170 + 8942150 8942190 41 GCCCAGGACGAAGTTTACAAACACCTCCTGGAACGAAGCTC GCCCAGGACGAAGTTTACAAACACGTCCTGGAACGAAGCTC < 41bp 1 0.489373941896089 1 0.772258758544922 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 25 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942170 chr16:8942174 . . 0 hm6A_associated_SNPs_16934 1 Uncertain significance Congenital disorder of glycosylation RCV000338580.1
1730 chr16 8942242 8942242 1 + A G rs2447928 8942246 + 8942226 8942266 41 GGGCAGTGTGATACCCAGTGACTAGACGCACTCTGCGTTTT GGGCAGTGTGATACCCGGTGACTAGACGCACTCTGCGTTTT < 41bp 1 0.500526277451024 1 0.876730501651764 experiment 0.998947445097952 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control 17 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942246 chr16:8942242 . . 0 hm6A_associated_SNPs_16935 1 Likely benign Congenital disorder of glycosylation RCV000312847.1
1731 chr16 8942515 8942515 1 + G A rs144056509 8942525 + 8942505 8942545 41 AAACCAACGCGGGATGTCAGACTTCACCAAAAGGACTTTCT AAACCAACGCAGGATGTCAGACTTCACCAAAAGGACTTTCT < 41bp 1 0.550954519209633 1 0.968530058860779 experiment 0.898090961580735 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 11 PMM2 ENSG00000260276;ENSG00000260350 ncRNA_exonic Human other chr16:8942525 chr16:8942515 . . 0 hm6A_associated_SNPs_16936 1 Uncertain significance Congenital disorder of glycosylation RCV000310799.1
1732 chr16 8942676 8942676 1 + A T rs113234190 8942671 + 8942651 8942691 41 TCACCCAGGCCTTCACCCAGACTTTACCACGGAGGCGGCTG TCACCCAGGCCTTCACCCAGACTTTTCCACGGAGGCGGCTG < 41bp 1 0.632645314819555 1 0.949406623840332 experiment 0.73470937036089 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown|30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 26 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942671 chr16:8942676 . . 0 hm6A_associated_SNPs_16937 1 Uncertain significance Congenital disorder of glycosylation RCV000267332.1
1733 chr16 8942679 8942679 1 + A G rs1056898 8942671 + 8942651 8942691 41 TCACCCAGGCCTTCACCCAGACTTTACCACGGAGGCGGCTG TCACCCAGGCCTTCACCCAGACTTTACCGCGGAGGCGGCTG < 41bp 1 0.644864428154318 1 0.935962021350861 experiment 0.710271143691363 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown|30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942671 chr16:8942679 . . 0 hm6A_associated_SNPs_16938 1 Likely benign Congenital disorder of glycosylation RCV000317823.1
1734 chr16 8942745 8942745 1 + C T rs539046271 8942754 + 8942734 8942774 41 TTCTGCACGTTCTTCGTGAAACTGGAAGGATCCCGGGTCTC TTCTGCACGTTTTTCGTGAAACTGGAAGGATCCCGGGTCTC < 41bp 1 0.430938785565053 1 0.885971188545227 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942754 chr16:8942745 . . 0 hm6A_associated_SNPs_16939 1 Uncertain significance Congenital disorder of glycosylation RCV000318917.1
1735 chr16 8942768 8942768 1 + G A rs567957339 8942754 + 8942734 8942774 41 TTCTGCACGTTCTTCGTGAAACTGGAAGGATCCCGGGTCTC TTCTGCACGTTCTTCGTGAAACTGGAAGGATCCCAGGTCTC < 41bp 1 0.484058126369638 1 0.904230356216431 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 35 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942754 chr16:8942768 . . 0 hm6A_associated_SNPs_16941 1 Uncertain significance Congenital disorder of glycosylation RCV000292877.1
1736 chr16 8942768 8942768 1 + G A rs567957339 8942782 + 8942762 8942802 41 GATCCCGGGTCTCAGCTAGAACACGGTGGAAGAGAACTTTC GATCCCAGGTCTCAGCTAGAACACGGTGGAAGAGAACTTTC < 41bp 1 0.585380770167591 1 0.9410679936409 experiment 0.829238459664817 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8942782 chr16:8942768 . . 0 hm6A_associated_SNPs_16942 1 Uncertain significance Congenital disorder of glycosylation RCV000292877.1
1737 chr16 8943030 8943030 1 + A G rs188346349 8943031 + 8943011 8943051 41 CCCAGCCACTCGGGCTTGTAACTGTCTGAGCCCCGGATCCG CCCAGCCACTCGGGCTTGTGACTGTCTGAGCCCCGGATCCG < 41bp 1 0.551307373769695 1 0.924155354499817 experiment 0.897385252460611 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 20 PMM2 ENSG00000260276 ncRNA_exonic Human antisense chr16:8943031 chr16:8943030 . . 0 hm6A_associated_SNPs_16944 1 Uncertain significance Congenital disorder of glycosylation RCV000259623.1
1738 chr16 14042070 14042070 1 + A G rs2020957 14042068 + 14042048 14042088 41 CTTGATGCACCACGTTAAGAACATCGCAGAATTAGCAGCCC CTTGATGCACCACGTTAAGAACGTCGCAGAATTAGCAGCCC Direct Loss 1 0.789166206801655 1 0.969684779644012 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042068 chr16:14042070 nonsynonymous SNV 0.949 1 hm6A_associated_SNPs_17000 4 Likely benign not specified RCV000120807.1
1739 chr16 14042070 14042070 1 + A G rs2020957 14042068 + 14042048 14042088 41 CTTGATGCACCACGTTAAGAACATCGCAGAATTAGCAGCCC CTTGATGCACCACGTTAAGAACGTCGCAGAATTAGCAGCCC Direct Loss 1 0.789166206801655 1 0.969684779644012 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042068 chr16:14042070 nonsynonymous SNV 0.949 1 hm6A_associated_SNPs_17000 4 Benign Cockayne syndrome RCV000234732.2
1740 chr16 14042070 14042070 1 + A G rs2020957 14042068 + 14042048 14042088 41 CTTGATGCACCACGTTAAGAACATCGCAGAATTAGCAGCCC CTTGATGCACCACGTTAAGAACGTCGCAGAATTAGCAGCCC Direct Loss 1 0.789166206801655 1 0.969684779644012 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042068 chr16:14042070 nonsynonymous SNV 0.949 1 hm6A_associated_SNPs_17000 4 Benign Fanconi anemia, complementation group Q RCV000234732.2
1741 chr16 14042070 14042070 1 + A G rs2020957 14042068 + 14042048 14042088 41 CTTGATGCACCACGTTAAGAACATCGCAGAATTAGCAGCCC CTTGATGCACCACGTTAAGAACGTCGCAGAATTAGCAGCCC Direct Loss 1 0.789166206801655 1 0.969684779644012 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042068 chr16:14042070 nonsynonymous SNV 0.949 1 hm6A_associated_SNPs_17000 4 Benign Xeroderma pigmentosum, group F RCV000234732.2
1742 chr16 14042215 14042215 1 + C T rs9929524 14042205 + 14042185 14042225 41 AAGGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA AAGGAAAAGGGAAAAAGTGAACAGTGATGGTTGTTTTCTTA < 41bp 1 0.703023009872142 1 0.955681920051575 experiment 0.593953980255717 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 31 ERCC4 ENSG00000175595 UTR3 Human protein_coding chr16:14042205 chr16:14042215 . . 0 hm6A_associated_SNPs_17001 2 Benign not specified RCV000250244.1
1743 chr16 14042215 14042215 1 + C T rs9929524 14042205 + 14042185 14042225 41 AAGGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA AAGGAAAAGGGAAAAAGTGAACAGTGATGGTTGTTTTCTTA < 41bp 1 0.703023009872142 1 0.955681920051575 experiment 0.593953980255717 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 31 ERCC4 ENSG00000175595 UTR3 Human protein_coding chr16:14042205 chr16:14042215 . . 0 hm6A_associated_SNPs_17001 2 Likely benign Xeroderma pigmentosum RCV000327126.1
1744 chr16 15781331 15781331 1 + C T rs140251634 15781349 + 15781329 15781369 41 CTCCTGGAATCTGTTCAGAGACTGAAGGATGAAGCCAGAGG CTTCTGGAATCTGTTCAGAGACTGAAGGATGAAGCCAGAGG < 41bp 1 0.274273138126847 1 0.991132855415344 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 3 NDE1 ENSG00000072864 CDS Human protein_coding chr16:15781349 chr16:15781331 synonymous SNV . 0 hm6A_associated_SNPs_17019 1 Benign not specified RCV000377707.2
1745 chr16 15788041 15788041 1 + G T rs570994490 15788045 + 15788025 15788065 41 TGGACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCC TGGACGACTCCACCGGTGGGACCCCCCTCACACCTGCGGCC < 41bp 1 0.0889981554839769 1 0.00701510906219482 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 17 NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788045 chr16:15788041 synonymous SNV . 0 hm6A_associated_SNPs_17020 1 Uncertain significance not specified RCV000194660.1
1746 chr16 15788062 15788062 1 + G A rs1123418 15788045 + 15788025 15788065 41 TGGACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCC TGGACGACTCCACCGGGGGGACCCCCCTCACACCTGCAGCC < 41bp 1 0.0738835613396455 1 0.00311121344566345 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 38 NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788045 chr16:15788062 synonymous SNV . 0 hm6A_associated_SNPs_17021 2 Uncertain significance Lissencephaly 4 RCV000146499.1
1747 chr16 15788062 15788062 1 + G A rs1123418 15788045 + 15788025 15788065 41 TGGACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCC TGGACGACTCCACCGGGGGGACCCCCCTCACACCTGCAGCC < 41bp 1 0.0738835613396455 1 0.00311121344566345 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 38 NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788045 chr16:15788062 synonymous SNV . 0 hm6A_associated_SNPs_17021 2 Likely benign not specified RCV000427106.1
1748 chr16 15819007 15819007 1 + C A rs79015533 15819006 + 15818986 15819026 41 TCTGATAAAAAAAAAAAAAAACACACACACACACAAAAAAA TCTGATAAAAAAAAAAAAAAAAACACACACACACAAAAAAA Direct Loss 1 0.308163284503131 1 0.00707557797431946 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819006 chr16:15819007 . . 0 hm6A_associated_SNPs_17023 2 Likely benign Lissencephaly, Recessive RCV000279655.1
1749 chr16 15819007 15819007 1 + C A rs79015533 15819006 + 15818986 15819026 41 TCTGATAAAAAAAAAAAAAAACACACACACACACAAAAAAA TCTGATAAAAAAAAAAAAAAAAACACACACACACAAAAAAA Direct Loss 1 0.308163284503131 1 0.00707557797431946 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819006 chr16:15819007 . . 0 hm6A_associated_SNPs_17023 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000378871.1
1750 chr16 15819007 15819007 1 + C A rs79015533 15819027 + 15819007 15819047 41 CACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGG AACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGG < 41bp 1 0.535645394254369 1 0.146533578634262 experiment 0.928709211491262 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 1 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819027 chr16:15819007 . . 0 hm6A_associated_SNPs_17024 2 Likely benign Lissencephaly, Recessive RCV000279655.1
1751 chr16 15819007 15819007 1 + C A rs79015533 15819027 + 15819007 15819047 41 CACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGG AACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGG < 41bp 1 0.535645394254369 1 0.146533578634262 experiment 0.928709211491262 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 1 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819027 chr16:15819007 . . 0 hm6A_associated_SNPs_17024 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000378871.1
1752 chr16 15819021 15819021 1 + A C rs760024 15819006 + 15818986 15819026 41 TCTGATAAAAAAAAAAAAAAACACACACACACACAAAAAAA TCTGATAAAAAAAAAAAAAAACACACACACACACACAAAAA < 41bp 1 0.330514626172787 1 0.00627973675727844 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819006 chr16:15819021 . . 0 hm6A_associated_SNPs_17025 2 Benign Lissencephaly, Recessive RCV000312653.1
1753 chr16 15819021 15819021 1 + A C rs760024 15819006 + 15818986 15819026 41 TCTGATAAAAAAAAAAAAAAACACACACACACACAAAAAAA TCTGATAAAAAAAAAAAAAAACACACACACACACACAAAAA < 41bp 1 0.330514626172787 1 0.00627973675727844 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819006 chr16:15819021 . . 0 hm6A_associated_SNPs_17025 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000404818.1
1754 chr16 15819021 15819021 1 + A C rs760024 15819027 + 15819007 15819047 41 CACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGG CACACACACACACACAAAAAACAGAATCTGTGGCTTGAAGG < 41bp 1 0.564081251629338 1 0.147293359041214 experiment 0.871837496741325 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 15 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819027 chr16:15819021 . . 0 hm6A_associated_SNPs_17026 2 Benign Lissencephaly, Recessive RCV000312653.1
1755 chr16 15819021 15819021 1 + A C rs760024 15819027 + 15819007 15819047 41 CACACACACACACAAAAAAAACAGAATCTGTGGCTTGAAGG CACACACACACACACAAAAAACAGAATCTGTGGCTTGAAGG < 41bp 1 0.564081251629338 1 0.147293359041214 experiment 0.871837496741325 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 15 NDE1 ENSG00000072864 UTR3 Human protein_coding chr16:15819027 chr16:15819021 . . 0 hm6A_associated_SNPs_17026 2 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000404818.1
1756 chr16 19548740 19548740 1 + A G rs17227190 19548752 + 19548732 19548772 41 TTTGAGAAAGTTAAACGGAGACTTGATTTAGATATTGATGG TTTGAGAAGGTTAAACGGAGACTTGATTTAGATATTGATGG < 41bp 1 0.699993449005389 1 0.978267967700958 experiment 0.600013101989222 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 9 CCP110 ENSG00000103540 CDS Human protein_coding chr16:19548752 chr16:19548740 synonymous SNV . 0 hm6A_associated_SNPs_17050 1 Benign not specified RCV000455069.1
1757 chr16 30078907 30078907 1 + A G rs76767223 30078905 + 30078885 30078925 41 GTGTCATCCTCTTCCATGAGACACTCTACCAGAAGGCGGAT GTGTCATCCTCTTCCATGAGACGCTCTACCAGAAGGCGGAT Direct Loss 1 0.612701194351626 1 0.785490453243256 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 ALDOA ENSG00000149925 CDS Human protein_coding chr16:30078905 chr16:30078907 synonymous SNV . 0 hm6A_associated_SNPs_17162 1 Likely benign not specified RCV000430973.1
1758 chr16 30199093 30199093 1 + C T rs149867063 30199083 + 30199063 30199103 41 GCTGTCCCTGCAGGAGCTGGACACCAGCAGCGGTGTCCTGC GCTGTCCCTGCAGGAGCTGGACACCAGCAGTGGTGTCCTGC < 41bp 1 0.712923115396347 1 0.914951920509338 experiment 0.574153769207306 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 31 CORO1A ENSG00000102879 CDS Human protein_coding chr16:30199083 chr16:30199093 synonymous SNV . 0 hm6A_associated_SNPs_17164 1 Likely benign not specified RCV000437319.1
1759 chr16 30712108 30712108 1 + T C rs200417893 30712096 + 30712076 30712116 41 GGCCAGCAGTACTGGTGATAACAACCCAGTCATTCTTCAGG GGCCAGCAGTACTGGTGATAACAACCCAGTCACTCTTCAGG < 41bp 1 0.416979971895229 1 0.620985686779022 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 33 SRCAP ENSG00000080603 UTR5 Human protein_coding chr16:30712096 chr16:30712108 . . 0 hm6A_associated_SNPs_17176 1 Likely benign Floating-Harbor syndrome RCV000383943.1
1760 chr16 30736165 30736165 1 + C T rs150467782 30736158 + 30736138 30736178 41 TGGGCCCGGCCGCAGCTCAGACCTTGGCGCTGGCCCCAGCC TGGGCCCGGCCGCAGCTCAGACCTTGGTGCTGGCCCCAGCC < 41bp 1 0.731533770030234 1 0.90863710641861 experiment 0.536932459939533 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 28 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30736158 chr16:30736165 nonsynonymous SNV 0.385 2 hm6A_associated_SNPs_17177 2 Likely benign Floating-Harbor syndrome RCV000348139.1
1761 chr16 30736165 30736165 1 + C T rs150467782 30736158 + 30736138 30736178 41 TGGGCCCGGCCGCAGCTCAGACCTTGGCGCTGGCCCCAGCC TGGGCCCGGCCGCAGCTCAGACCTTGGTGCTGGCCCCAGCC < 41bp 1 0.731533770030234 1 0.90863710641861 experiment 0.536932459939533 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 28 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30736158 chr16:30736165 nonsynonymous SNV 0.385 2 hm6A_associated_SNPs_17177 2 Uncertain significance not specified RCV000401422.1
1762 chr16 30748609 30748609 1 + C T rs138152469 30748590 + 30748570 30748610 41 GGCTGAGACTCAAGGGGCAAACCACACTCCTGTCATATCCG GGCTGAGACTCAAGGGGCAAACCACACTCCTGTCATATCTG < 41bp 1 0.391076172602189 1 0.942786693572998 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30748590 chr16:30748609 synonymous SNV . 0 hm6A_associated_SNPs_17179 1 Uncertain significance not specified RCV000177798.1
1763 chr16 30748609 30748609 1 + C T rs138152469 30748619 + 30748599 30748639 41 CTGTCATATCCGCCCATCAAACTCGCAGCACCACCACACCA CTGTCATATCTGCCCATCAAACTCGCAGCACCACCACACCA < 41bp 1 0.786912383009616 1 0.814084053039551 experiment 0.426175233980768 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 11 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30748619 chr16:30748609 synonymous SNV . 0 hm6A_associated_SNPs_17180 1 Uncertain significance not specified RCV000177798.1
1764 chr16 30762505 30762505 1 + A T rs56207641 30762503 + 30762483 30762523 41 CGGTGAAGATTATGGAAGTGACAGCTGAGCGGCTGAGTCCT CGGTGAAGATTATGGAAGTGACTGCTGAGCGGCTGAGTCCT < 41bp 1 0.24358185865164 1 0.866809725761414 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 23 PHKG2 ENSG00000156873 CDS Human protein_coding chr16:30762503 chr16:30762505 synonymous SNV . 0 hm6A_associated_SNPs_17182 2 Likely benign not specified RCV000254290.1
1765 chr16 30762505 30762505 1 + A T rs56207641 30762503 + 30762483 30762523 41 CGGTGAAGATTATGGAAGTGACAGCTGAGCGGCTGAGTCCT CGGTGAAGATTATGGAAGTGACTGCTGAGCGGCTGAGTCCT < 41bp 1 0.24358185865164 1 0.866809725761414 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 23 PHKG2 ENSG00000156873 CDS Human protein_coding chr16:30762503 chr16:30762505 synonymous SNV . 0 hm6A_associated_SNPs_17182 2 Uncertain significance Glycogen phosphorylase kinase deficiency RCV000333697.1
1766 chr16 30999250 30999250 1 + G A rs76878398 30999234 + 30999214 30999254 41 GAGTTCCTGGGCCCCTGCGGACTGCGGCTGGTGGGCGCCCG GAGTTCCTGGGCCCCTGCGGACTGCGGCTGGTGGGCACCCG < 41bp 1 0.791222183817217 1 0.989763617515564 experiment 0.417555632365566 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 37 HSD3B7 ENSG00000099377 CDS Human protein_coding chr16:30999234 chr16:30999250 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_17197 1 Benign not specified RCV000243230.1
1767 chr16 30999462 30999462 1 + T C rs2305880 30999457 + 30999437 30999477 41 TCTCGTGGGAGGATAGCCGGACCCGTACCATTCTCTGGGTA TCTCGTGGGAGGATAGCCGGACCCGCACCATTCTCTGGGTA < 41bp 1 0.451566838979023 1 0.962920188903809 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 26 HSD3B7 ENSG00000099377 CDS Human protein_coding chr16:30999457 chr16:30999462 synonymous SNV . 0 hm6A_associated_SNPs_17198 1 Benign not specified RCV000248027.2
1768 chr16 31123595 31123595 1 + C A rs199965337 31123586 + 31123566 31123606 41 GAGGAAAGCTTCCGGATCTGACCCCACAGCCTTTGGCCTGC GAGGAAAGCTTCCGGATCTGACCCCACAGACTTTGGCCTGC < 41bp 1 0.708848139043454 1 0.991300165653229 experiment 0.582303721913093 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 30 BCKDK ENSG00000103507 CDS Human protein_coding chr16:31123586 chr16:31123595 unknown . 0 hm6A_associated_SNPs_17211 1 Uncertain significance not specified RCV000403753.1
1769 chr16 31202800 31202800 1 + G A rs80301724 31202785 + 31202765 31202805 41 CTGGCTCCCCAGGTTCTGGAACAGCTTTTTGTCCTGTACCC CTGGCTCCCCAGGTTCTGGAACAGCTTTTTGTCCTATACCC < 41bp 1 0.724922460306619 1 0.024628758430481 experiment 0.550155079386761 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 36 FUS ENSG00000089280 UTR3 Human protein_coding chr16:31202785 chr16:31202800 . . 0 hm6A_associated_SNPs_17215 2 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000340713.1
1770 chr16 31202800 31202800 1 + G A rs80301724 31202785 + 31202765 31202805 41 CTGGCTCCCCAGGTTCTGGAACAGCTTTTTGTCCTGTACCC CTGGCTCCCCAGGTTCTGGAACAGCTTTTTGTCCTATACCC < 41bp 1 0.724922460306619 1 0.024628758430481 experiment 0.550155079386761 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 36 FUS ENSG00000089280 UTR3 Human protein_coding chr16:31202785 chr16:31202800 . . 0 hm6A_associated_SNPs_17215 2 Likely benign not specified RCV000455731.1
1771 chr16 47536914 47536914 1 + T C rs17738933 47536916 + 47536896 47536936 41 ACCCAGGCGAATTGATGATGACAAGGGAAGGACCCATGAGC ACCCAGGCGAATTGATGACGACAAGGGAAGGACCCATGAGC Direct Loss 1 0.674267570807955 1 0.11539751291275 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 19 PHKB ENSG00000102893 CDS Human protein_coding chr16:47536916 chr16:47536914 synonymous SNV . 0 hm6A_associated_SNPs_17229 2 Benign not specified RCV000249551.2
1772 chr16 47536914 47536914 1 + T C rs17738933 47536916 + 47536896 47536936 41 ACCCAGGCGAATTGATGATGACAAGGGAAGGACCCATGAGC ACCCAGGCGAATTGATGACGACAAGGGAAGGACCCATGAGC Direct Loss 1 0.674267570807955 1 0.11539751291275 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 19 PHKB ENSG00000102893 CDS Human protein_coding chr16:47536916 chr16:47536914 synonymous SNV . 0 hm6A_associated_SNPs_17229 2 Likely benign Glycogen phosphorylase kinase deficiency RCV000349363.1
1773 chr16 47733918 47733918 1 + C A rs117861728 47733911 + 47733891 47733931 41 ATAAATCTGTACCTTATCAAACATTTTCTTTGAGCTCCTGC ATAAATCTGTACCTTATCAAACATTTTATTTGAGCTCCTGC < 41bp 1 0.41698834274957 1 0.00800296664237976 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 28 PHKB ENSG00000102893 UTR3 Human protein_coding chr16:47733911 chr16:47733918 . . 0 hm6A_associated_SNPs_17231 1 Uncertain significance Glycogen phosphorylase kinase deficiency RCV000324741.1
1774 chr16 54148269 54148269 1 + A T rs114255834 54148288 + 54148268 54148308 41 TATATGTGTGTGACTATTGAACTCTATTCGTAGACTGCTTG TTTATGTGTGTGACTATTGAACTCTATTCGTAGACTGCTTG < 41bp 1 0.179770218059312 1 0.0388582646846771 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 2 FTO ENSG00000214696 ncRNA_exonic Human other chr16:54148288 chr16:54148269 . . 0 hm6A_associated_SNPs_17268 1 Likely benign Growth retardation, developmental delay, coarse facies, and early death RCV000396272.1
1775 chr16 55527073 55527073 1 + C T rs17859943 55527082 + 55527062 55527102 41 CTCCCCAGGGGCCTCTCCTGACATTGACCTTGGCACCGGCC CTCCCCAGGGGTCTCTCCTGACATTGACCTTGGCACCGGCC < 41bp 1 0.414513520475274 1 0.00950688123703003 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 MMP2 ENSG00000087245 CDS Human protein_coding chr16:55527082 chr16:55527073 nonsynonymous SNV 0.905 0 hm6A_associated_SNPs_17269 1 Likely benign Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders RCV000340310.1
1776 chr16 56948248 56948248 1 + C T rs37030 56948260 + 56948240 56948280 41 GAAATATACTTCACACTGAGACTTGCAGCGCACACACACGG GAAATATATTTCACACTGAGACTTGCAGCGCACACACACGG < 41bp 1 0.0517274907993468 1 0.326295107603073 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 9 SLC12A3 ENSG00000070915 UTR3 Human protein_coding chr16:56948260 chr16:56948248 . . 0 hm6A_associated_SNPs_17287 1 Benign Familial hypokalemia-hypomagnesemia RCV000397448.1
1777 chr16 56948277 56948277 1 + A T rs545337733 56948260 + 56948240 56948280 41 GAAATATACTTCACACTGAGACTTGCAGCGCACACACACGG GAAATATACTTCACACTGAGACTTGCAGCGCACACACTCGG < 41bp 1 0.0526599439132179 1 0.502619683742523 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 38 SLC12A3 ENSG00000070915 UTR3 Human protein_coding chr16:56948260 chr16:56948277 . . 0 hm6A_associated_SNPs_17288 1 Uncertain significance Familial hypokalemia-hypomagnesemia RCV000311040.1
1778 chr16 57486807 57486807 1 + G A rs377307935 57486819 + 57486799 57486839 41 TTGTGCCCGCCCACGGGTGGACAGCAGAGGCGATTGCAGAA TTGTGCCCACCCACGGGTGGACAGCAGAGGCGATTGCAGAA < 41bp 1 0.692556088106258 1 0.870922863483429 experiment 0.614887823787485 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 9 COQ9 ENSG00000088682 CDS Human protein_coding chr16:57486819 chr16:57486807 nonsynonymous SNV 0.454 0 hm6A_associated_SNPs_17301 1 Uncertain significance Coenzyme Q10 deficiency, primary RCV000335449.1
1779 chr16 57486832 57486832 1 + T C rs547254482 57486819 + 57486799 57486839 41 TTGTGCCCGCCCACGGGTGGACAGCAGAGGCGATTGCAGAA TTGTGCCCGCCCACGGGTGGACAGCAGAGGCGACTGCAGAA < 41bp 1 0.699384837179243 1 0.888951063156128 experiment 0.601230325641514 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 34 COQ9 ENSG00000088682 CDS Human protein_coding chr16:57486819 chr16:57486832 nonsynonymous SNV 0.991 4 hm6A_associated_SNPs_17302 1 Uncertain significance not specified RCV000197943.1
1780 chr16 57493600 57493600 1 + G A rs76508383 57493589 + 57493569 57493609 41 CACTTGGCGCTTCCTGGAAAACCGGGTTAATGATGCAATGA CACTTGGCGCTTCCTGGAAAACCGGGTTAATAATGCAATGA < 41bp 1 0.446772887912918 1 0.910405457019806 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 COQ9 ENSG00000088682 CDS Human protein_coding chr16:57493589 chr16:57493600 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_17304 3 Uncertain significance not specified RCV000198943.3
1781 chr16 57493600 57493600 1 + G A rs76508383 57493589 + 57493569 57493609 41 CACTTGGCGCTTCCTGGAAAACCGGGTTAATGATGCAATGA CACTTGGCGCTTCCTGGAAAACCGGGTTAATAATGCAATGA < 41bp 1 0.446772887912918 1 0.910405457019806 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 COQ9 ENSG00000088682 CDS Human protein_coding chr16:57493589 chr16:57493600 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_17304 3 Uncertain significance Coenzyme Q10 deficiency, primary RCV000407446.1
1782 chr16 57493600 57493600 1 + G A rs76508383 57493589 + 57493569 57493609 41 CACTTGGCGCTTCCTGGAAAACCGGGTTAATGATGCAATGA CACTTGGCGCTTCCTGGAAAACCGGGTTAATAATGCAATGA < 41bp 1 0.446772887912918 1 0.910405457019806 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 COQ9 ENSG00000088682 CDS Human protein_coding chr16:57493589 chr16:57493600 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_17304 3 Uncertain significance not provided RCV000444324.1
1783 chr16 57494636 57494636 1 + C T rs373048666 57494624 + 57494604 57494644 41 TATAAGGTGCCATCCACATAACCTGGTGTTCACGAGAACAC TATAAGGTGCCATCCACATAACCTGGTGTTCATGAGAACAC < 41bp 1 0.168443361267233 1 0.656797885894775 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 33 COQ9 ENSG00000088682 UTR3 Human protein_coding chr16:57494624 chr16:57494636 . . 0 hm6A_associated_SNPs_17308 1 Uncertain significance Coenzyme Q10 deficiency, primary RCV000362837.1
1784 chr16 57494636 57494636 1 + C T rs373048666 57494641 + 57494621 57494661 41 ATAACCTGGTGTTCACGAGAACACACTAAAGGACTCCTGAG ATAACCTGGTGTTCATGAGAACACACTAAAGGACTCCTGAG < 41bp 1 0.311374253841841 1 0.821517884731293 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 16 COQ9 ENSG00000088682 UTR3 Human protein_coding chr16:57494641 chr16:57494636 . . 0 hm6A_associated_SNPs_17309 1 Uncertain significance Coenzyme Q10 deficiency, primary RCV000362837.1
1785 chr16 57494636 57494636 1 + C T rs373048666 57494653 + 57494633 57494673 41 TCACGAGAACACACTAAAGGACTCCTGAGTCACTACCACAG TCATGAGAACACACTAAAGGACTCCTGAGTCACTACCACAG < 41bp 1 0.697288878348606 1 0.933732509613037 experiment 0.605422243302788 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control 4 COQ9 ENSG00000088682 UTR3 Human protein_coding chr16:57494653 chr16:57494636 . . 0 hm6A_associated_SNPs_17310 1 Uncertain significance Coenzyme Q10 deficiency, primary RCV000362837.1
1786 chr16 57685179 57685179 1 + C T rs12599906 57685163 + 57685143 57685183 41 TCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCC TCGCTTCTGCAGCCAGCGGAACCAGACACACAGGAGTAGCC < 41bp 1 0.662491291123343 1 0.765630900859833 experiment 0.675017417753314 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57685163 chr16:57685179 stopgain 0.048 0 hm6A_associated_SNPs_17315 1 Benign not specified RCV000246479.2
1787 chr16 57685179 57685179 1 + C T rs12599906 57685168 + 57685148 57685188 41 TCTGCAGCCAGCGGAACCAGACACACAGGAGCAGCCTCCAC TCTGCAGCCAGCGGAACCAGACACACAGGAGTAGCCTCCAC < 41bp 1 0.748483300997875 1 0.797659397125244 experiment 0.50303339800425 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57685168 chr16:57685179 stopgain 0.048 0 hm6A_associated_SNPs_17316 1 Benign not specified RCV000246479.2
1788 chr16 57685179 57685179 1 + C T rs12599906 57685194 + 57685174 57685214 41 AGGAGCAGCCTCCACTACAAACCCACACCAGACCTGCGCAT AGGAGTAGCCTCCACTACAAACCCACACCAGACCTGCGCAT < 41bp 1 0.500062258381048 1 0.917476534843445 experiment 0.999875483237905 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 6 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57685194 chr16:57685179 stopgain 0.048 0 hm6A_associated_SNPs_17317 1 Benign not specified RCV000246479.2
1789 chr16 57685283 57685283 1 + G A rs13338340 57685295 + 57685275 57685315 41 TGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACT TGCTTCCCAATCCTTCCCTGACCCCAGGGGCCTCTACCACT < 41bp 1 0.528622967611408 1 0.926491916179657 experiment 0.942754064777184 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57685295 chr16:57685283 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_17319 1 Likely benign not specified RCV000420264.1
1790 chr16 57685290 57685290 1 + C T rs58068378 57685295 + 57685275 57685315 41 TGCTTCCCGATCCTTCCCTGACCCCAGGGGCCTCTACCACT TGCTTCCCGATCCTTTCCTGACCCCAGGGGCCTCTACCACT < 41bp 1 0.522686115299395 1 0.936146378517151 experiment 0.954627769401211 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57685295 chr16:57685290 nonsynonymous SNV 0.085 0 hm6A_associated_SNPs_17320 1 Uncertain significance not specified RCV000397902.1
1791 chr16 57693376 57693376 1 + C T rs7198790 57693390 + 57693370 57693410 41 GCTGGCCGTCTTCCTGCTGGACACGAGCTTCCTGCTCAGCG GCTGGCTGTCTTCCTGCTGGACACGAGCTTCCTGCTCAGCG < 41bp 1 0.542833013330543 1 0.572694659233093 experiment 0.914333973338914 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 7 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57693390 chr16:57693376 synonymous SNV . 0 hm6A_associated_SNPs_17322 1 Benign not specified RCV000146037.2
1792 chr16 68856041 68856041 1 + G A rs33935154 68856030 + 68856010 68856050 41 TCCAAAGCCTCAGGTCATAAACATCATTGATGCAGACCTTC TCCAAAGCCTCAGGTCATAAACATCATTGATACAGACCTTC < 41bp 1 0.467546301575645 1 0.86877453327179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 32 CDH1 ENSG00000039068 CDS Human protein_coding chr16:68856030 chr16:68856041 nonsynonymous SNV 0.946 0 hm6A_associated_SNPs_17408 5 Pathogenic Endometrial carcinoma RCV000013018.4
1793 chr16 68856041 68856041 1 + G A rs33935154 68856030 + 68856010 68856050 41 TCCAAAGCCTCAGGTCATAAACATCATTGATGCAGACCTTC TCCAAAGCCTCAGGTCATAAACATCATTGATACAGACCTTC < 41bp 1 0.467546301575645 1 0.86877453327179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 32 CDH1 ENSG00000039068 CDS Human protein_coding chr16:68856030 chr16:68856041 nonsynonymous SNV 0.946 0 hm6A_associated_SNPs_17408 5 other Hereditary diffuse gastric cancer RCV000013019.26
1794 chr16 68856041 68856041 1 + G A rs33935154 68856030 + 68856010 68856050 41 TCCAAAGCCTCAGGTCATAAACATCATTGATGCAGACCTTC TCCAAAGCCTCAGGTCATAAACATCATTGATACAGACCTTC < 41bp 1 0.467546301575645 1 0.86877453327179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 32 CDH1 ENSG00000039068 CDS Human protein_coding chr16:68856030 chr16:68856041 nonsynonymous SNV 0.946 0 hm6A_associated_SNPs_17408 5 Benign not provided RCV000034706.3
1795 chr16 68856041 68856041 1 + G A rs33935154 68856030 + 68856010 68856050 41 TCCAAAGCCTCAGGTCATAAACATCATTGATGCAGACCTTC TCCAAAGCCTCAGGTCATAAACATCATTGATACAGACCTTC < 41bp 1 0.467546301575645 1 0.86877453327179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 32 CDH1 ENSG00000039068 CDS Human protein_coding chr16:68856030 chr16:68856041 nonsynonymous SNV 0.946 0 hm6A_associated_SNPs_17408 5 Benign not specified RCV000120500.2
1796 chr16 68856041 68856041 1 + G A rs33935154 68856030 + 68856010 68856050 41 TCCAAAGCCTCAGGTCATAAACATCATTGATGCAGACCTTC TCCAAAGCCTCAGGTCATAAACATCATTGATACAGACCTTC < 41bp 1 0.467546301575645 1 0.86877453327179 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 32 CDH1 ENSG00000039068 CDS Human protein_coding chr16:68856030 chr16:68856041 nonsynonymous SNV 0.946 0 hm6A_associated_SNPs_17408 5 other Hereditary cancer-predisposing syndrome RCV000130292.4
1797 chr16 72058502 72058502 1 + G A rs150155845 72058510 + 72058490 72058530 41 GTGGGCTTCCCAGGAACTTGACTGTCTTTCATTTGATCTTT GTGGGCTTCCCAAGAACTTGACTGTCTTTCATTTGATCTTT < 41bp 1 0.406567549248161 1 0.0430754423141479 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 13 DHODH ENSG00000102967 UTR3 Human protein_coding chr16:72058510 chr16:72058502 . . 0 hm6A_associated_SNPs_17482 1 Uncertain significance Miller syndrome RCV000402335.1
1798 chr16 81411360 81411360 1 + C T rs76000455 81411373 + 81411353 81411393 41 TTTAGCTCTTGTTTGGGAGAACACGTAACTGTTGAAAAACT TTTAGCTTTTGTTTGGGAGAACACGTAACTGTTGAAAAACT < 41bp 1 0.38496433645786 1 0.100583612918854 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 8 GAN ENSG00000261609 UTR3 Human protein_coding chr16:81411373 chr16:81411360 . . 0 hm6A_associated_SNPs_17521 1 Likely benign Giant axonal neuropathy RCV000334053.1
1799 chr16 83949076 83949076 1 + A G rs1127368 83949094 + 83949074 83949114 41 CAAAAGAACAGCAAGCTCTGACAGTAAACCTCTCCTAAAGC CAGAAGAACAGCAAGCTCTGACAGTAAACCTCTCCTAAAGC < 41bp 1 0.767634504704281 1 0.994264721870422 experiment 0.464730990591438 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 MLYCD ENSG00000103150 CDS Human protein_coding chr16:83949094 chr16:83949076 synonymous SNV . 0 hm6A_associated_SNPs_17538 2 Likely benign Deficiency of malonyl-CoA decarboxylase RCV000291860.1
1800 chr16 83949076 83949076 1 + A G rs1127368 83949094 + 83949074 83949114 41 CAAAAGAACAGCAAGCTCTGACAGTAAACCTCTCCTAAAGC CAGAAGAACAGCAAGCTCTGACAGTAAACCTCTCCTAAAGC < 41bp 1 0.767634504704281 1 0.994264721870422 experiment 0.464730990591438 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 MLYCD ENSG00000103150 CDS Human protein_coding chr16:83949094 chr16:83949076 synonymous SNV . 0 hm6A_associated_SNPs_17538 2 Benign not specified RCV000431509.1
1801 chr16 83949506 83949506 1 + T C rs1127382 83949516 + 83949496 83949536 41 TGTTCCTTTGTGCTCATAAAACAGAATGCGGCGATGGTTGC TGTTCCTTTGCGCTCATAAAACAGAATGCGGCGATGGTTGC < 41bp 1 0.589651132158818 1 0.672844648361206 experiment 0.820697735682363 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 11 MLYCD ENSG00000103150 UTR3 Human protein_coding chr16:83949516 chr16:83949506 . . 0 hm6A_associated_SNPs_17539 1 Benign Deficiency of malonyl-CoA decarboxylase RCV000370065.1
1802 chr16 83949554 83949554 1 + A C rs1127387 83949569 + 83949549 83949589 41 TCACCATGCAATGCAGAGGGACAAAGGGCTGTGCTACACTT TCACCCTGCAATGCAGAGGGACAAAGGGCTGTGCTACACTT < 41bp 1 0.733887121487831 1 0.834856629371643 experiment 0.532225757024338 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31279658;GSE122948;miCLIP;HEK293T;Control 6 MLYCD ENSG00000103150 UTR3 Human protein_coding chr16:83949569 chr16:83949554 . . 0 hm6A_associated_SNPs_17543 1 Likely benign Deficiency of malonyl-CoA decarboxylase RCV000275540.1
1803 chr16 84211514 84211514 1 + T C rs4150186 84211531 - 84211511 84211551 41 GCTAGCCCAATCATACACTGACTCGCGTGGGTGTTAAAATG GCTAGCCCAATCATACACTGACTCGCGTGGGTGTTAAGATG < 41bp 1 0.471935510233271 1 0.100294291973114 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 38 DNAAF1;TAF1C ENSG00000103168;ENSG00000154099 UTR3 Human other chr16:84211531 chr16:84211514 . . 0 hm6A_associated_SNPs_17547 1 Uncertain significance Primary ciliary dyskinesia RCV000339757.1
1804 chr16 86546748 86546748 1 + G A rs145532148 86546745 + 86546725 86546765 41 GCGGGTCACAGGGACCCTGGACCGGCACAAGAAACTGCTTT GCGGGTCACAGGGACCCTGGACCAGCACAAGAAACTGCTTT < 41bp 1 0.777724808530314 1 0.981345415115356 experiment 0.444550382939372 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 FOXF1 ENSG00000103241 UTR3 Human protein_coding chr16:86546745 chr16:86546748 . . 0 hm6A_associated_SNPs_17595 1 Likely benign Alveolar capillary dysplasia with misalignment of pulmonary veins RCV000321928.1
1805 chr16 86547546 86547546 1 + C T rs182779285 86547538 + 86547518 86547558 41 CTGGTCCGAGAACGAGCCGAACACAGCGCGACGCAGGGACT CTGGTCCGAGAACGAGCCGAACACAGCGTGACGCAGGGACT < 41bp 1 0.540184031765244 1 0.94622415304184 experiment 0.919631936469511 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 FOXF1 ENSG00000103241 UTR3 Human protein_coding chr16:86547538 chr16:86547546 . . 0 hm6A_associated_SNPs_17596 1 Benign Alveolar capillary dysplasia with misalignment of pulmonary veins RCV000338840.1
1806 chr16 86547546 86547546 1 + C T rs182779285 86547556 + 86547536 86547576 41 GAACACAGCGCGACGCAGGGACTAGGACGGCCCGGTGACCG GAACACAGCGTGACGCAGGGACTAGGACGGCCCGGTGACCG < 41bp 1 0.752956654085806 1 0.979247868061066 experiment 0.494086691828388 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 11 FOXF1 ENSG00000103241 UTR3 Human protein_coding chr16:86547556 chr16:86547546 . . 0 hm6A_associated_SNPs_17597 1 Benign Alveolar capillary dysplasia with misalignment of pulmonary veins RCV000338840.1
1807 chr16 86601376 86601376 1 + C T rs79452610 86601387 + 86601367 86601407 41 GGGCAGTTACTGGACCCTGGACCCGGACTCCTACAACATGT GGGCAGTTATTGGACCCTGGACCCGGACTCCTACAACATGT < 41bp 1 0.799433612934419 1 0.99999737739563 experiment 0.401132774131162 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 10 FOXC2 ENSG00000176692 CDS Human protein_coding chr16:86601387 chr16:86601376 synonymous SNV . 0 hm6A_associated_SNPs_17601 1 Benign not specified RCV000246078.1
1808 chr16 88499910 88499910 1 + G A rs79155191 88499916 + 88499896 88499936 41 GGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATG GGTGAGCCCAGGGGACACGGACAACCACGCCTCAGTCAATG < 41bp 1 0.734061096218922 1 0.974922895431519 experiment 0.531877807562156 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 15 ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88499916 chr16:88499910 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_17612 2 Likely benign Corneal fragility keratoglobus, blue sclerae AND joint hypermobility RCV000392020.1
1809 chr16 88499910 88499910 1 + G A rs79155191 88499916 + 88499896 88499936 41 GGTGAGCCCAGGGGGCACGGACAACCACGCCTCAGTCAATG GGTGAGCCCAGGGGACACGGACAACCACGCCTCAGTCAATG < 41bp 1 0.734061096218922 1 0.974922895431519 experiment 0.531877807562156 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 15 ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88499916 chr16:88499910 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_17612 2 Benign not specified RCV000419752.1
1810 chr16 88870967 88870967 1 + T C rs475667 88870984 + 88870964 88871004 41 CAGTACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTC CAGCACCCCCGAGGCCCCAGACATCCCAGCCTGCCCTTCTC < 41bp 1 0.450229149121444 1 0.938262343406677 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 4 CDT1 ENSG00000167513 CDS Human protein_coding chr16:88870984 chr16:88870967 synonymous SNV . 0 hm6A_associated_SNPs_17627 1 other not specified RCV000116647.3
1811 chr16 88874655 88874655 1 + C T rs3218721 88874663 + 88874643 88874683 41 CTGCACGCCTGGCCCACCAGACACGTGCTGAGGAGGGGCTG CTGCACGCCTGGTCCACCAGACACGTGCTGAGGAGGGGCTG < 41bp 1 0.799364544628147 1 0.986459255218506 experiment 0.401270910743706 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 13 CDT1 ENSG00000167513 CDS Human protein_coding chr16:88874663 chr16:88874655 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_17630 1 Benign not specified RCV000116646.1
1812 chr16 89211714 89211714 1 + G A rs144681140 89211732 + 89211712 89211752 41 CCGAGGCCGGACCTCAGTGGACATCATCAAGACTGGAGGCT CCAAGGCCGGACCTCAGTGGACATCATCAAGACTGGAGGCT < 41bp 1 0.695909430316229 1 0.974011898040771 experiment 0.608181139367542 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 3 ACSF3 ENSG00000176715 CDS Human protein_coding chr16:89211732 chr16:89211714 nonsynonymous SNV 0.121 1 hm6A_associated_SNPs_17648 1 Uncertain significance not specified RCV000185749.3
1813 chr16 89592774 89592774 1 + T C rs114255772 89592777 + 89592757 89592797 41 AATGCAGGTTGCAAATATTGACAAGTTTGAAGAGAAGCTTC AATGCAGGTTGCAAATACTGACAAGTTTGAAGAGAAGCTTC < 41bp 1 0.778732662129997 1 0.97467577457428 experiment 0.442534675740005 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 18 SPG7 ENSG00000197912 CDS Human protein_coding chr16:89592777 chr16:89592774 nonsynonymous SNV 0.976 1 hm6A_associated_SNPs_17660 2 Likely benign Spastic paraplegia 7 RCV000205153.1
1814 chr16 89592774 89592774 1 + T C rs114255772 89592777 + 89592757 89592797 41 AATGCAGGTTGCAAATATTGACAAGTTTGAAGAGAAGCTTC AATGCAGGTTGCAAATACTGACAAGTTTGAAGAGAAGCTTC < 41bp 1 0.778732662129997 1 0.97467577457428 experiment 0.442534675740005 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 18 SPG7 ENSG00000197912 CDS Human protein_coding chr16:89592777 chr16:89592774 nonsynonymous SNV 0.976 1 hm6A_associated_SNPs_17660 2 Uncertain significance Spastic Paraplegia, Recessive RCV000283153.1
1815 chr16 89623933 89623933 1 + G A rs545177317 89623928 + 89623908 89623948 41 AGGGGATCGGACATGAAAGGACCCTGTGAGCCGATTGTCCT AGGGGATCGGACATGAAAGGACCCTATGAGCCGATTGTCCT < 41bp 1 0.752432436938611 1 0.991861820220947 experiment 0.495135126122777 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 26 SPG7 ENSG00000197912 UTR3 Human protein_coding chr16:89623928 chr16:89623933 . . 0 hm6A_associated_SNPs_17663 1 Uncertain significance Spastic Paraplegia, Recessive RCV000259542.1
1816 chr16 89805977 89805977 1 + G A rs1061646 89805996 + 89805976 89806016 41 AGTGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGT AATGGCTCAGGCAACTCTGGACATCTCTGCCTATTATCAGT < 41bp 1 0.673218089677675 1 0.926762938499451 experiment 0.653563820644649 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 2 ZNF276 ENSG00000158805 UTR3 Human protein_coding chr16:89805996 chr16:89805977 . . 0 hm6A_associated_SNPs_17704 1 Benign not specified RCV000242351.1
1817 chr16 89806445 89806445 1 + C T rs17227361 89806454 + 89806434 89806474 41 GATATCTTCCTCTTCTCTAAACACTCGAGGATTGCTGCACA GATATCTTCCTTTTCTCTAAACACTCGAGGATTGCTGCACA < 41bp 1 0.77030982266413 1 0.883051633834839 experiment 0.459380354671739 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 FANCA ENSG00000187741 CDS Human protein_coding chr16:89806454 chr16:89806445 synonymous SNV . 0 hm6A_associated_SNPs_17706 1 Benign Fanconi anemia RCV000467178.1
1818 chr16 89985844 89985844 1 + G T rs1805005 89985863 + 89985843 89985883 41 GGTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA GTTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA < 41bp 1 0.749806146102024 1 0.981148242950439 experiment 0.500387707795952 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 2 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985863 chr16:89985844 nonsynonymous SNV 0.718 3 hm6A_associated_SNPs_17715 3 other Skin/hair/eye pigmentation 2, blond hair/fair skin RCV000015384.27
1819 chr16 89985844 89985844 1 + G T rs1805005 89985863 + 89985843 89985883 41 GGTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA GTTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA < 41bp 1 0.749806146102024 1 0.981148242950439 experiment 0.500387707795952 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 2 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985863 chr16:89985844 nonsynonymous SNV 0.718 3 hm6A_associated_SNPs_17715 3 Benign not specified RCV000242490.1
1820 chr16 89985844 89985844 1 + G T rs1805005 89985863 + 89985843 89985883 41 GGTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA GTTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA < 41bp 1 0.749806146102024 1 0.981148242950439 experiment 0.500387707795952 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 2 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985863 chr16:89985844 nonsynonymous SNV 0.718 3 hm6A_associated_SNPs_17715 3 Benign Malignant Melanoma Susceptibility RCV000276119.1
1821 chr16 89985866 89985866 1 + G A rs34090186 89985863 + 89985843 89985883 41 GGTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA GGTGGCCACCATCGCCAAGAACCAGAACCTGCACTCACCCA < 41bp 1 0.746640128998721 1 0.982690751552582 experiment 0.506719742002559 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985863 chr16:89985866 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_17716 1 Likely benign Malignant Melanoma Susceptibility RCV000367081.1
1822 chr16 89985866 89985866 1 + G A rs34090186 89985869 + 89985849 89985889 41 CACCATCGCCAAGAACCGGAACCTGCACTCACCCATGTACT CACCATCGCCAAGAACCAGAACCTGCACTCACCCATGTACT < 41bp 1 0.755314786955687 1 0.974391937255859 experiment 0.489370426088626 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 18 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985869 chr16:89985866 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_17717 1 Likely benign Malignant Melanoma Susceptibility RCV000367081.1
1823 chr16 89986957 89986957 1 + A G rs143513600 89986940 + 89986920 89986960 41 ATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAATGA ATTTTCCGCCCACTCCTGGGACACTCCGTCTGCTCCAGTGA < 41bp 1 0.747332113019992 1 0.976906776428223 experiment 0.505335773960017 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 MC1R ENSG00000256390;ENSG00000259006 ncRNA_exonic Human other chr16:89986940 chr16:89986957 . . 0 hm6A_associated_SNPs_17718 1 Likely benign Malignant Melanoma Susceptibility RCV000276170.1
1824 chr16 90001525 90001525 1 + C T rs61743676 90001530 + 90001510 90001550 41 GGCCACGCCCACCTACGGGGACCTCAACCACCTGGTATCGG GGCCACGCCCACCTATGGGGACCTCAACCACCTGGTATCGG < 41bp 1 0.632997603032045 1 0.999976754188538 experiment 0.734004793935911 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;Control|31328227;GSE128699;miCLIP;HCT116;Control 16 TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:90001530 chr16:90001525 synonymous SNV . 0 hm6A_associated_SNPs_17719 1 Likely benign not specified RCV000147854.2
1825 chr17 1648294 1648294 1 + C T rs2070862 1648288 + 1648268 1648308 41 TTTCTGTCCCTGCCACAGGAACATGGCGCTGCTCTGGGGGC TTTCTGTCCCTGCCACAGGAACATGGTGCTGCTCTGGGGGC < 41bp 1 0.321023684859874 1 0.0285159647464752 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 27 SERPINF2 ENSG00000167711 CDS Human protein_coding chr17:1648288 chr17:1648294 nonsynonymous SNV 0.995 1 hm6A_associated_SNPs_17750 1 Benign not specified RCV000252815.1
1826 chr17 1674429 1674429 1 + T C rs8074840 1674419 + 1674399 1674439 41 TACCTATAAGGAGCTCCTTGACACGGTCACTGCCCCCCAGA TACCTATAAGGAGCTCCTTGACACGGTCACCGCCCCCCAGA < 41bp 1 0.645454091415866 1 0.338695645332336 experiment 0.709091817168268 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 31 SERPINF1 ENSG00000132386 CDS Human protein_coding chr17:1674419 chr17:1674429 synonymous SNV . 0 hm6A_associated_SNPs_17755 1 Benign Osteogenesis Imperfecta, Recessive RCV000339652.1
1827 chr17 2577462 2577462 1 + A G rs150380620 2577451 + 2577431 2577471 41 CCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTA CCAGCTGTTCCAATGACCAGACTGTGCGTGTGTGGGTCGTA < 41bp 1 0.386996411292249 1 0.858248114585876 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 PAFAH1B1 ENSG00000007168 CDS Human protein_coding chr17:2577451 chr17:2577462 synonymous SNV . 0 hm6A_associated_SNPs_17791 3 Likely benign not specified RCV000078814.4
1828 chr17 2577462 2577462 1 + A G rs150380620 2577451 + 2577431 2577471 41 CCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTA CCAGCTGTTCCAATGACCAGACTGTGCGTGTGTGGGTCGTA < 41bp 1 0.386996411292249 1 0.858248114585876 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 PAFAH1B1 ENSG00000007168 CDS Human protein_coding chr17:2577451 chr17:2577462 synonymous SNV . 0 hm6A_associated_SNPs_17791 3 Uncertain significance Lissencephaly 1 RCV000147062.1
1829 chr17 2577462 2577462 1 + A G rs150380620 2577451 + 2577431 2577471 41 CCAGCTGTTCCAATGACCAGACTGTGCGTGTATGGGTCGTA CCAGCTGTTCCAATGACCAGACTGTGCGTGTGTGGGTCGTA < 41bp 1 0.386996411292249 1 0.858248114585876 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 PAFAH1B1 ENSG00000007168 CDS Human protein_coding chr17:2577451 chr17:2577462 synonymous SNV . 0 hm6A_associated_SNPs_17791 3 Likely benign Lissencephaly/Subcortical Band Heterotopia RCV000305647.1
1830 chr17 2585889 2585889 1 + A G rs59721618 2585894 + 2585874 2585914 41 TGTATTCTCCATACTATTAGACTGTGTAGTGATGTGACTTC TGTATTCTCCATACTGTTAGACTGTGTAGTGATGTGACTTC < 41bp 1 0.471134032244286 1 0.883501410484314 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 16 PAFAH1B1 ENSG00000007168 UTR3 Human protein_coding chr17:2585894 chr17:2585889 . . 0 hm6A_associated_SNPs_17792 1 Likely benign Lissencephaly/Subcortical Band Heterotopia RCV000399973.1
1831 chr17 2588168 2588168 1 + T C rs545489859 2588185 + 2588165 2588205 41 CTCTTTCTGTTTCTGTGTGAACTTTCCCGGTAATATCACTC CTCCTTCTGTTTCTGTGTGAACTTTCCCGGTAATATCACTC < 41bp 1 0.20774428023566 1 0.398375749588013 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 4 PAFAH1B1 ENSG00000272770 ncRNA_exonic Human antisense chr17:2588185 chr17:2588168 . . 0 hm6A_associated_SNPs_17794 1 Likely benign Lissencephaly/Subcortical Band Heterotopia RCV000348459.1
1832 chr17 2588283 2588283 1 + C T rs78230530 2588271 + 2588251 2588291 41 AGGTAAAGGATATTTTGTTGACATCGGTGGCTCGATCATCC AGGTAAAGGATATTTTGTTGACATCGGTGGCTTGATCATCC < 41bp 1 0.478913800799462 1 0.63740336894989 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 33 PAFAH1B1 ENSG00000272770 ncRNA_exonic Human antisense chr17:2588271 chr17:2588283 . . 0 hm6A_associated_SNPs_17795 1 Benign Lissencephaly/Subcortical Band Heterotopia RCV000354284.1
1833 chr17 4801125 4801125 1 + C G rs9914357 4801139 + 4801119 4801159 41 GGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACC GGGGGAGCCCGCCAGCCAAAACATTCCCCCCATTCCCGACC < 41bp 1 0.708748676380923 1 0.0758513510227203 experiment 0.582502647238153 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 7 CHRNE;MINK1 ENSG00000108556;ENSG00000141503 UTR3 Human other chr17:4801139 chr17:4801125 . . 0 hm6A_associated_SNPs_17839 1 Benign Congenital Myasthenic Syndrome, Dominant/Recessive RCV000344016.1
1834 chr17 4801129 4801129 1 + G A rs369145199 4801139 + 4801119 4801159 41 GGGGGACCCCGCCAGCCAAAACATTCCCCCCATTCCCGACC GGGGGACCCCACCAGCCAAAACATTCCCCCCATTCCCGACC < 41bp 1 0.69175351020007 1 0.0838763117790222 experiment 0.61649297959986 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 11 CHRNE;MINK1 ENSG00000108556;ENSG00000141503 UTR3 Human other chr17:4801139 chr17:4801129 . . 0 hm6A_associated_SNPs_17840 1 Uncertain significance Congenital Myasthenic Syndrome, Dominant/Recessive RCV000310457.1
1835 chr17 4805389 4805389 1 + G A rs72835059 4805369 + 4805349 4805389 41 GGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGG GGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGA < 41bp 1 0.476064507392482 1 0.996965706348419 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 41 C17orf107 ENSG00000205710 UTR3 Human protein_coding chr17:4805369 chr17:4805389 . . 0 hm6A_associated_SNPs_17841 2 Benign not specified RCV000116738.3
1836 chr17 4805389 4805389 1 + G A rs72835059 4805369 + 4805349 4805389 41 GGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGG GGCGTCGTAGGCCACTCCGAACTGGCCATCAATACTGTGGA < 41bp 1 0.476064507392482 1 0.996965706348419 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 41 C17orf107 ENSG00000205710 UTR3 Human protein_coding chr17:4805369 chr17:4805389 . . 0 hm6A_associated_SNPs_17841 2 Likely benign Congenital Myasthenic Syndrome, Dominant/Recessive RCV000297749.1
1837 chr17 4925674 4925674 1 + C T rs73345356 4925664 + 4925644 4925684 41 CTACGAGGTGGCCCTGGCTGACTTCCGCCACGGGCGGGCTG CTACGAGGTGGCCCTGGCTGACTTCCGCCATGGGCGGGCTG < 41bp 1 0.60986378769948 1 0.982856631278992 experiment 0.78027242460104 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 31 KIF1C ENSG00000129250 CDS Human protein_coding chr17:4925664 chr17:4925674 synonymous SNV . 0 hm6A_associated_SNPs_17845 1 Benign not specified RCV000425902.1
1838 chr17 7360323 7360323 1 + T C rs3855924 7360316 + 7360296 7360336 41 AAATAGAACACAGAACAGGAACTAGATTATAAGCCTTATGA AAATAGAACACAGAACAGGAACTAGATCATAAGCCTTATGA < 41bp 1 0.289911666965074 1 0.563443779945374 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 28 CHRNB1 ENSG00000170175 UTR3 Human protein_coding chr17:7360316 chr17:7360323 . . 0 hm6A_associated_SNPs_17912 1 Likely benign Congenital Myasthenic Syndrome, Dominant/Recessive RCV000280304.1
1839 chr17 7604145 7604145 1 + C A rs570343418 7604138 + 7604118 7604158 41 GATGTCCTCAGCCCAGCCAGACACCTCCTAGTAAGTAATGT GATGTCCTCAGCCCAGCCAGACACCTCATAGTAAGTAATGT < 41bp 1 0.593692730747852 1 0.000952273607254028 experiment 0.812614538504296 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 28 WRAP53 ENSG00000141499 CDS Human protein_coding chr17:7604138 chr17:7604145 synonymous SNV . 0 hm6A_associated_SNPs_17940 1 Uncertain significance not specified RCV000500836.1
1840 chr17 8192277 8192277 1 + C T rs3809740 8192294 + 8192274 8192314 41 CGACCTCCGACCGGTCCCGGACAATCAAGAAGTTTTCTGCC CGATCTCCGACCGGTCCCGGACAATCAAGAAGTTTTCTGCC < 41bp 1 0.447081572415478 1 0.994754791259766 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 4 RANGRF ENSG00000108961 CDS Human protein_coding chr17:8192294 chr17:8192277 synonymous SNV . 0 hm6A_associated_SNPs_17966 1 Benign Cardiac arrhythmia RCV000230116.2
1841 chr17 12655857 12655857 1 + A G rs137939966 12655846 + 12655826 12655866 41 CTCTGGCAACCCAGTGCCGAACTTTGGGGATATAACGACTG CTCTGGCAACCCAGTGCCGAACTTTGGGGATGTAACGACTG < 41bp 1 0.415850384169169 1 0.992228806018829 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 32 MYOCD ENSG00000141052;ENSG00000273452 CDS Human other chr17:12655846 chr17:12655857 nonsynonymous SNV 0.105 1 hm6A_associated_SNPs_17987 2 Likely pathogenic Intellectual disability RCV000162186.1
1842 chr17 12655857 12655857 1 + A G rs137939966 12655846 + 12655826 12655866 41 CTCTGGCAACCCAGTGCCGAACTTTGGGGATATAACGACTG CTCTGGCAACCCAGTGCCGAACTTTGGGGATGTAACGACTG < 41bp 1 0.415850384169169 1 0.992228806018829 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 32 MYOCD ENSG00000141052;ENSG00000273452 CDS Human other chr17:12655846 chr17:12655857 nonsynonymous SNV 0.105 1 hm6A_associated_SNPs_17987 2 Likely pathogenic Seizures RCV000162186.1
1843 chr17 13972811 13972811 1 + G A rs6502330 13972821 + 13972801 13972841 41 GCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGG GCCGGAAGTGACGGCCCGGAACTACTCCCACAGGGGGGCGG < 41bp 1 0.260661203175234 1 0.869551301002502 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 11 COX10 ENSG00000236088 ncRNA_exonic Human processed_transcript chr17:13972821 chr17:13972811 . . 0 hm6A_associated_SNPs_17989 2 Benign Leigh syndrome RCV000336039.1
1844 chr17 13972811 13972811 1 + G A rs6502330 13972821 + 13972801 13972841 41 GCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGG GCCGGAAGTGACGGCCCGGAACTACTCCCACAGGGGGGCGG < 41bp 1 0.260661203175234 1 0.869551301002502 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 11 COX10 ENSG00000236088 ncRNA_exonic Human processed_transcript chr17:13972821 chr17:13972811 . . 0 hm6A_associated_SNPs_17989 2 Benign Cytochrome-c oxidase deficiency RCV000390210.1
1845 chr17 13972814 13972814 1 + G A rs28680987 13972821 + 13972801 13972841 41 GCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGG GCCGGAAGTGGCGACCCGGAACTACTCCCACAGGGGGGCGG < 41bp 1 0.299006194236213 1 0.839424967765808 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 14 COX10 ENSG00000006695 UTR5 Human protein_coding chr17:13972821 chr17:13972814 . . 0 hm6A_associated_SNPs_17990 2 Likely benign Cytochrome-c oxidase deficiency RCV000301058.1
1846 chr17 13972814 13972814 1 + G A rs28680987 13972821 + 13972801 13972841 41 GCCGGAAGTGGCGGCCCGGAACTACTCCCACAGGGGGGCGG GCCGGAAGTGGCGACCCGGAACTACTCCCACAGGGGGGCGG < 41bp 1 0.299006194236213 1 0.839424967765808 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 14 COX10 ENSG00000006695 UTR5 Human protein_coding chr17:13972821 chr17:13972814 . . 0 hm6A_associated_SNPs_17990 2 Likely benign Leigh syndrome RCV000367476.1
1847 chr17 13980058 13980058 1 + A T rs2230351 13980068 + 13980048 13980088 41 TTAGTATGTCACACAGCTGAACAGAAGCCACAACCAGCAAG TTAGTATGTCTCACAGCTGAACAGAAGCCACAACCAGCAAG < 41bp 1 0.46290538183689 1 0.740475833415985 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 11 COX10 ENSG00000006695 CDS Human protein_coding chr17:13980068 chr17:13980058 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_17992 3 Benign not specified RCV000124571.1
1848 chr17 13980058 13980058 1 + A T rs2230351 13980068 + 13980048 13980088 41 TTAGTATGTCACACAGCTGAACAGAAGCCACAACCAGCAAG TTAGTATGTCTCACAGCTGAACAGAAGCCACAACCAGCAAG < 41bp 1 0.46290538183689 1 0.740475833415985 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 11 COX10 ENSG00000006695 CDS Human protein_coding chr17:13980068 chr17:13980058 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_17992 3 Likely benign Leigh syndrome RCV000311575.1
1849 chr17 13980058 13980058 1 + A T rs2230351 13980068 + 13980048 13980088 41 TTAGTATGTCACACAGCTGAACAGAAGCCACAACCAGCAAG TTAGTATGTCTCACAGCTGAACAGAAGCCACAACCAGCAAG < 41bp 1 0.46290538183689 1 0.740475833415985 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 11 COX10 ENSG00000006695 CDS Human protein_coding chr17:13980068 chr17:13980058 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_17992 3 Likely benign Cytochrome-c oxidase deficiency RCV000401023.1
1850 chr17 13980350 13980350 1 + G A rs2072279 13980366 + 13980346 13980386 41 GCTCGACTATCCAAAATCAAACTCACAGGTACTTTGTTTTT GCTCAACTATCCAAAATCAAACTCACAGGTACTTTGTTTTT < 41bp 1 0.222334505032355 1 0.728138983249664 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 5 COX10 ENSG00000006695 CDS Human protein_coding chr17:13980366 chr17:13980350 nonsynonymous SNV 0.988 0 hm6A_associated_SNPs_17994 3 Benign not specified RCV000124574.1
1851 chr17 13980350 13980350 1 + G A rs2072279 13980366 + 13980346 13980386 41 GCTCGACTATCCAAAATCAAACTCACAGGTACTTTGTTTTT GCTCAACTATCCAAAATCAAACTCACAGGTACTTTGTTTTT < 41bp 1 0.222334505032355 1 0.728138983249664 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 5 COX10 ENSG00000006695 CDS Human protein_coding chr17:13980366 chr17:13980350 nonsynonymous SNV 0.988 0 hm6A_associated_SNPs_17994 3 Benign Leigh syndrome RCV000268376.1
1852 chr17 13980350 13980350 1 + G A rs2072279 13980366 + 13980346 13980386 41 GCTCGACTATCCAAAATCAAACTCACAGGTACTTTGTTTTT GCTCAACTATCCAAAATCAAACTCACAGGTACTTTGTTTTT < 41bp 1 0.222334505032355 1 0.728138983249664 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 5 COX10 ENSG00000006695 CDS Human protein_coding chr17:13980366 chr17:13980350 nonsynonymous SNV 0.988 0 hm6A_associated_SNPs_17994 3 Benign Cytochrome-c oxidase deficiency RCV000322790.1
1853 chr17 14005478 14005478 1 + G A rs371273328 14005489 + 14005469 14005509 41 ATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTA ATTGGCTCCAGGCCCTTTTGACTGGCCCTGTTTCCTGCTTA < 41bp 1 0.237170310989352 1 0.0838882625102997 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 10 COX10 ENSG00000006695 CDS Human protein_coding chr17:14005489 chr17:14005478 synonymous SNV . 0 hm6A_associated_SNPs_17995 2 Uncertain significance Cytochrome-c oxidase deficiency RCV000328617.1
1854 chr17 14005478 14005478 1 + G A rs371273328 14005489 + 14005469 14005509 41 ATTGGCTCCGGGCCCTTTTGACTGGCCCTGTTTCCTGCTTA ATTGGCTCCAGGCCCTTTTGACTGGCCCTGTTTCCTGCTTA < 41bp 1 0.237170310989352 1 0.0838882625102997 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 10 COX10 ENSG00000006695 CDS Human protein_coding chr17:14005489 chr17:14005478 synonymous SNV . 0 hm6A_associated_SNPs_17995 2 Uncertain significance Leigh syndrome RCV000383020.1
1855 chr17 14111287 14111287 1 + T C rs1802618 14111285 + 14111265 14111305 41 TTCTAAAAGGGTAGCCCTGGACTTAATACCAGCCGGATACC TTCTAAAAGGGTAGCCCTGGACCTAATACCAGCCGGATACC < 41bp 1 0.278833681178383 1 0.160602986812592 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14111285 chr17:14111287 . . 0 hm6A_associated_SNPs_17996 2 Benign Leigh syndrome RCV000313440.1
1856 chr17 14111287 14111287 1 + T C rs1802618 14111285 + 14111265 14111305 41 TTCTAAAAGGGTAGCCCTGGACTTAATACCAGCCGGATACC TTCTAAAAGGGTAGCCCTGGACCTAATACCAGCCGGATACC < 41bp 1 0.278833681178383 1 0.160602986812592 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 COX10 ENSG00000006695 UTR3 Human protein_coding chr17:14111285 chr17:14111287 . . 0 hm6A_associated_SNPs_17996 2 Benign Cytochrome-c oxidase deficiency RCV000390456.1
1857 chr17 15931436 15931436 1 + G A rs73981413 15931418 + 15931398 15931438 41 AAGTGGGGATTAGGCACGTGACAGTATAGCACCCATTTGAA AAGTGGGGATTAGGCACGTGACAGTATAGCACCCATTTAAA < 41bp 1 0.36974646403376 1 0.0851266086101532 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 39 TTC19 ENSG00000011295 UTR3 Human protein_coding chr17:15931418 chr17:15931436 . . 0 hm6A_associated_SNPs_18006 1 Likely benign Mitochondrial complex III deficiency RCV000315175.1
1858 chr17 15931545 15931545 1 + T A rs11554356 15931548 + 15931528 15931568 41 CTTTTGTCTGTGTTATCTGAACACTCTACTTCCTTTGCAGC CTTTTGTCTGTGTTATCAGAACACTCTACTTCCTTTGCAGC < 41bp 1 0.524680719343471 1 0.0339225232601166 experiment 0.950638561313058 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 TTC19 ENSG00000011295 UTR3 Human protein_coding chr17:15931548 chr17:15931545 . . 0 hm6A_associated_SNPs_18007 1 Likely benign Mitochondrial complex III deficiency RCV000316310.1
1859 chr17 15931807 15931807 1 + G A rs73981414 15931823 + 15931803 15931843 41 GGAAGGTATTTGGTTAGATGACTTTGAATGAATAGACTGCT GGAAAGTATTTGGTTAGATGACTTTGAATGAATAGACTGCT < 41bp 1 0.19001040774528 1 0.394793689250946 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 5 TTC19 ENSG00000011295 UTR3 Human protein_coding chr17:15931823 chr17:15931807 . . 0 hm6A_associated_SNPs_18008 1 Likely benign Mitochondrial complex III deficiency RCV000377059.1
1860 chr17 15932030 15932030 1 + T A rs116722822 15932025 + 15932005 15932045 41 GGGGGTGGGATGTGAGTGGGACTGATAAACTGATACTTTTG GGGGGTGGGATGTGAGTGGGACTGAAAAACTGATACTTTTG < 41bp 1 0.220745575935467 1 0.265843898057938 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 TTC19 ENSG00000011295 UTR3 Human protein_coding chr17:15932025 chr17:15932030 . . 0 hm6A_associated_SNPs_18010 1 Uncertain significance Mitochondrial complex III deficiency RCV000382710.1
1861 chr17 16229232 16229232 1 + A G rs15739 16229241 + 16229221 16229261 41 AGGGTTTTCAGATCCAAGGAACAAAGGGGAAAATAGACAAA AGGGTTTTCAGGTCCAAGGAACAAAGGGGAAAATAGACAAA < 41bp 1 0.456554869115876 1 0.86239093542099 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 12 PIGL ENSG00000108474 UTR3 Human protein_coding chr17:16229241 chr17:16229232 . . 0 hm6A_associated_SNPs_18011 1 Benign Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome RCV000302032.1
1862 chr17 17696987 17696987 1 + C T rs150563155 17697005 + 17696985 17697025 41 ACCGACTGCCCAGCCCCATGACAGGCCGCTGACTGCCAGCT ACTGACTGCCCAGCCCCATGACAGGCCGCTGACTGCCAGCT < 41bp 1 0.669610672751738 1 0.997710108757019 experiment 0.660778654496524 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 RAI1 ENSG00000108557 CDS Human protein_coding chr17:17697005 chr17:17696987 nonsynonymous SNV 0.003 4 hm6A_associated_SNPs_18052 1 other not specified RCV000082274.7
1863 chr17 17697099 17697099 1 + G A rs11078398 17697092 + 17697072 17697112 41 GTCGGGCCGCCTCAGCTATGACCAGCAGCAGCAGCAGCAGC GTCGGGCCGCCTCAGCTATGACCAGCAACAGCAGCAGCAGC < 41bp 1 0.494717149072479 1 0.999366402626038 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 28 RAI1 ENSG00000108557 CDS Human protein_coding chr17:17697092 chr17:17697099 synonymous SNV . 0 hm6A_associated_SNPs_18053 1 Benign not specified RCV000082276.6
1864 chr17 17697234 17697234 1 + G A rs138675466 17697250 + 17697230 17697270 41 AGCCGGACGCAGCCGTCCGGACCCCAGAGCAGTACTACCAG AGCCAGACGCAGCCGTCCGGACCCCAGAGCAGTACTACCAG < 41bp 1 0.675308087124034 1 0.999849557876587 experiment 0.649383825751932 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 5 RAI1 ENSG00000108557 CDS Human protein_coding chr17:17697250 chr17:17697234 synonymous SNV . 0 hm6A_associated_SNPs_18054 1 Benign not specified RCV000082279.4
1865 chr17 19555891 19555891 1 + G A rs200806435 19555888 + 19555868 19555908 41 GTGATTATAAAGCCTTCTGAACTGAGTGAAAATACAGCCAA GTGATTATAAAGCCTTCTGAACTAAGTGAAAATACAGCCAA < 41bp 1 0.410311847848645 1 0.613113820552826 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 ALDH3A2 ENSG00000072210 CDS Human protein_coding chr17:19555888 chr17:19555891 synonymous SNV . 0 hm6A_associated_SNPs_18092 1 Uncertain significance Sjögren-Larsson syndrome RCV000259431.1
1866 chr17 19559770 19559770 1 + C T rs115977487 19559764 + 19559744 19559784 41 CCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTG CCACATTTTCTATACGGGAAACACTGTGGTTGGCAAAATTG < 41bp 1 0.7334368467978 1 0.555351376533508 experiment 0.5331263064044 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 27 ALDH3A2 ENSG00000072210 CDS Human protein_coding chr17:19559764 chr17:19559770 nonsynonymous SNV 0.308 1 hm6A_associated_SNPs_18093 1 Likely benign Sjögren-Larsson syndrome RCV000355237.1
1867 chr17 19579177 19579177 1 + G T rs540671507 19579158 + 19579138 19579178 41 AGGGGAGGAGAATGTATTAGACTAAATACAAACTGCGGGGT AGGGGAGGAGAATGTATTAGACTAAATACAAACTGCGGGTT < 41bp 1 0.715516830169319 1 0.222243428230286 experiment 0.568966339661363 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 40 ALDH3A2 ENSG00000072210 UTR3 Human protein_coding chr17:19579158 chr17:19579177 . . 0 hm6A_associated_SNPs_18096 1 Uncertain significance Sjögren-Larsson syndrome RCV000390935.1
1868 chr17 19579177 19579177 1 + G T rs540671507 19579169 + 19579149 19579189 41 ATGTATTAGACTAAATACAAACTGCGGGGTTGTAAGGGAGT ATGTATTAGACTAAATACAAACTGCGGGTTTGTAAGGGAGT < 41bp 1 0.60891665918032 1 0.099685937166214 experiment 0.782166681639361 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 ALDH3A2 ENSG00000072210 UTR3 Human protein_coding chr17:19579169 chr17:19579177 . . 0 hm6A_associated_SNPs_18097 1 Uncertain significance Sjögren-Larsson syndrome RCV000390935.1
1869 chr17 19580494 19580494 1 + A G rs7215 19580476 + 19580456 19580496 41 TGGAGCTCCTGACTGCAGGGACTCTGTCCCCACACTCAAAA TGGAGCTCCTGACTGCAGGGACTCTGTCCCCACACTCAGAA < 41bp 1 0.667865618035769 1 0.98175573348999 experiment 0.664268763928461 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 ALDH3A2 ENSG00000072210 UTR3 Human protein_coding chr17:19580476 chr17:19580494 . . 0 hm6A_associated_SNPs_18102 1 Benign Sjögren-Larsson syndrome RCV000343374.1
1870 chr17 19580494 19580494 1 + A G rs7215 19580499 + 19580479 19580519 41 CTGTCCCCACACTCAAAAAGACTCAGCTCACTCAATGAGAG CTGTCCCCACACTCAGAAAGACTCAGCTCACTCAATGAGAG < 41bp 1 0.650100814464981 1 0.942737698554993 experiment 0.699798371070039 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 ALDH3A2 ENSG00000072210 UTR3 Human protein_coding chr17:19580499 chr17:19580494 . . 0 hm6A_associated_SNPs_18103 1 Benign Sjögren-Larsson syndrome RCV000343374.1
1871 chr17 26723409 26723409 1 + C T rs73273104 26723397 + 26723377 26723417 41 ACCAGTCTCCCTGGGCTGAGACAACCTGGGCTCTTCTTAGG ACCAGTCTCCCTGGGCTGAGACAACCTGGGCTTTTCTTAGG < 41bp 1 0.486656748387394 1 0.876939535140991 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 33 SARM1;SLC46A1 ENSG00000004139;ENSG00000076351 UTR3 Human other chr17:26723397 chr17:26723409 . . 0 hm6A_associated_SNPs_18158 1 Likely benign Congenital defect of folate absorption RCV000346331.1
1872 chr17 26725280 26725280 1 + G T rs141940033 26725299 - 26725279 26725319 41 AAGGCCACACAGGGCAGTGGACAACAGTGGAGGGTATACCA AAGGCCACACAGGGCAGTGGACAACAGTGGAGGGTATACAA < 41bp 1 0.540952600317968 1 0.43841364979744 experiment 0.918094799364064 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 40 SARM1;SLC46A1 ENSG00000004139;ENSG00000076351 UTR3 Human other chr17:26725299 chr17:26725280 . . 0 hm6A_associated_SNPs_18159 1 Uncertain significance Congenital defect of folate absorption RCV000267232.1
1873 chr17 26725980 26725980 1 + T A rs112801276 26725978 - 26725958 26725998 41 GTCTGCCTGCCATACGTTAGACAACAGAAGCTGCTGGGCTG GTCTGCCTGCCATACGTTTGACAACAGAAGCTGCTGGGCTG < 41bp 1 0.389660881647425 1 0.708097398281097 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 SARM1;SLC46A1 ENSG00000004139;ENSG00000076351 UTR3 Human other chr17:26725978 chr17:26725980 . . 0 hm6A_associated_SNPs_18160 1 Uncertain significance Congenital defect of folate absorption RCV000280742.1
1874 chr17 29553484 29553484 1 + C T rs17881753 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCTGATTTGCCGACAA < 41bp 1 0.0592232653695181 1 0.205614060163498 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 28 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553484 nonsynonymous SNV 0.974 2 hm6A_associated_SNPs_18202 4 Uncertain significance not provided RCV000034581.1
1875 chr17 29553484 29553484 1 + C T rs17881753 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCTGATTTGCCGACAA < 41bp 1 0.0592232653695181 1 0.205614060163498 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 28 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553484 nonsynonymous SNV 0.974 2 hm6A_associated_SNPs_18202 4 not provided not specified RCV000121631.1
1876 chr17 29553484 29553484 1 + C T rs17881753 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCTGATTTGCCGACAA < 41bp 1 0.0592232653695181 1 0.205614060163498 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 28 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553484 nonsynonymous SNV 0.974 2 hm6A_associated_SNPs_18202 4 Likely benign Hereditary cancer-predisposing syndrome RCV000130295.3
1877 chr17 29553484 29553484 1 + C T rs17881753 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCTGATTTGCCGACAA < 41bp 1 0.0592232653695181 1 0.205614060163498 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 28 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553484 nonsynonymous SNV 0.974 2 hm6A_associated_SNPs_18202 4 Benign Neurofibromatosis, type 1 RCV000200179.4
1878 chr17 29553485 29553485 1 + G A rs2285892 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCCAATTTGCCGACAA < 41bp 1 0.0589009877867944 1 0.246967852115631 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 29 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553485 synonymous SNV . 0 hm6A_associated_SNPs_18203 6 Benign Hereditary cancer-predisposing syndrome RCV000162648.1
1879 chr17 29553485 29553485 1 + G A rs2285892 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCCAATTTGCCGACAA < 41bp 1 0.0589009877867944 1 0.246967852115631 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 29 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553485 synonymous SNV . 0 hm6A_associated_SNPs_18203 6 Benign not specified RCV000219876.3
1880 chr17 29553485 29553485 1 + G A rs2285892 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCCAATTTGCCGACAA < 41bp 1 0.0589009877867944 1 0.246967852115631 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 29 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553485 synonymous SNV . 0 hm6A_associated_SNPs_18203 6 Likely benign Neurofibromatosis, type 1 RCV000296834.1
1881 chr17 29553485 29553485 1 + G A rs2285892 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCCAATTTGCCGACAA < 41bp 1 0.0589009877867944 1 0.246967852115631 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 29 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553485 synonymous SNV . 0 hm6A_associated_SNPs_18203 6 Likely benign Café-au-lait macules with pulmonary stenosis RCV000356219.1
1882 chr17 29553485 29553485 1 + G A rs2285892 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCCAATTTGCCGACAA < 41bp 1 0.0589009877867944 1 0.246967852115631 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 29 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553485 synonymous SNV . 0 hm6A_associated_SNPs_18203 6 Likely benign Neurofibromatosis, familial spinal RCV000371357.1
1883 chr17 29553485 29553485 1 + G A rs2285892 29553477 + 29553457 29553497 41 GTGCAGCAGGATGCAGCGGAACCCCCCCGATTTGCCGACAA GTGCAGCAGGATGCAGCGGAACCCCCCCAATTTGCCGACAA < 41bp 1 0.0589009877867944 1 0.246967852115631 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 29 NF1 ENSG00000196712 CDS Human protein_coding chr17:29553477 chr17:29553485 synonymous SNV . 0 hm6A_associated_SNPs_18203 6 Likely benign Neurofibromatosis-Noonan syndrome RCV000400800.1
1884 chr17 29556987 29556987 1 + G C rs17881467 29556970 + 29556950 29556990 41 TAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTGGTC TAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTCGTC < 41bp 1 0.391432175192146 1 0.0204768776893616 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 38 NF1 ENSG00000196712 CDS Human protein_coding chr17:29556970 chr17:29556987 synonymous SNV . 0 hm6A_associated_SNPs_18204 3 Benign Hereditary cancer-predisposing syndrome RCV000163174.1
1885 chr17 29556987 29556987 1 + G C rs17881467 29556970 + 29556950 29556990 41 TAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTGGTC TAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTCGTC < 41bp 1 0.391432175192146 1 0.0204768776893616 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 38 NF1 ENSG00000196712 CDS Human protein_coding chr17:29556970 chr17:29556987 synonymous SNV . 0 hm6A_associated_SNPs_18204 3 Benign Neurofibromatosis, type 1 RCV000204155.3
1886 chr17 29556987 29556987 1 + G C rs17881467 29556970 + 29556950 29556990 41 TAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTGGTC TAGGGCAAGCTAGCATTGAAACAATGATGTTAAATCTCGTC < 41bp 1 0.391432175192146 1 0.0204768776893616 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 38 NF1 ENSG00000196712 CDS Human protein_coding chr17:29556970 chr17:29556987 synonymous SNV . 0 hm6A_associated_SNPs_18204 3 other not specified RCV000222166.3
1887 chr17 29652884 29652884 1 + T C rs10512435 29652890 + 29652870 29652910 41 TGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCA TGATATACCATGTCCTACTGACTTTAAAGCCATATTATGCA < 41bp 1 0.781937434689887 1 0.904381155967712 experiment 0.436125130620227 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652890 chr17:29652884 synonymous SNV . 0 hm6A_associated_SNPs_18205 6 Benign Hereditary cancer-predisposing syndrome RCV000163175.1
1888 chr17 29652884 29652884 1 + T C rs10512435 29652890 + 29652870 29652910 41 TGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCA TGATATACCATGTCCTACTGACTTTAAAGCCATATTATGCA < 41bp 1 0.781937434689887 1 0.904381155967712 experiment 0.436125130620227 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652890 chr17:29652884 synonymous SNV . 0 hm6A_associated_SNPs_18205 6 Benign not specified RCV000221784.3
1889 chr17 29652884 29652884 1 + T C rs10512435 29652890 + 29652870 29652910 41 TGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCA TGATATACCATGTCCTACTGACTTTAAAGCCATATTATGCA < 41bp 1 0.781937434689887 1 0.904381155967712 experiment 0.436125130620227 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652890 chr17:29652884 synonymous SNV . 0 hm6A_associated_SNPs_18205 6 other Neurofibromatosis, type 1 RCV000278397.2
1890 chr17 29652884 29652884 1 + T C rs10512435 29652890 + 29652870 29652910 41 TGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCA TGATATACCATGTCCTACTGACTTTAAAGCCATATTATGCA < 41bp 1 0.781937434689887 1 0.904381155967712 experiment 0.436125130620227 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652890 chr17:29652884 synonymous SNV . 0 hm6A_associated_SNPs_18205 6 Likely benign Neurofibromatosis-Noonan syndrome RCV000352103.1
1891 chr17 29652884 29652884 1 + T C rs10512435 29652890 + 29652870 29652910 41 TGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCA TGATATACCATGTCCTACTGACTTTAAAGCCATATTATGCA < 41bp 1 0.781937434689887 1 0.904381155967712 experiment 0.436125130620227 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652890 chr17:29652884 synonymous SNV . 0 hm6A_associated_SNPs_18205 6 Likely benign Café-au-lait macules with pulmonary stenosis RCV000372852.1
1892 chr17 29652884 29652884 1 + T C rs10512435 29652890 + 29652870 29652910 41 TGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCA TGATATACCATGTCCTACTGACTTTAAAGCCATATTATGCA < 41bp 1 0.781937434689887 1 0.904381155967712 experiment 0.436125130620227 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652890 chr17:29652884 synonymous SNV . 0 hm6A_associated_SNPs_18205 6 Likely benign Neurofibromatosis, familial spinal RCV000388338.1
1893 chr17 29652931 29652931 1 + G A rs17880521 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTAGACCTTACCCATACCGGGCCTA < 41bp 1 0.559202731096875 1 0.840813398361206 experiment 0.881594537806249 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 19 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652931 synonymous SNV . 0 hm6A_associated_SNPs_18206 6 Benign Hereditary cancer-predisposing syndrome RCV000163317.1
1894 chr17 29652931 29652931 1 + G A rs17880521 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTAGACCTTACCCATACCGGGCCTA < 41bp 1 0.559202731096875 1 0.840813398361206 experiment 0.881594537806249 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 19 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652931 synonymous SNV . 0 hm6A_associated_SNPs_18206 6 Benign not specified RCV000215429.3
1895 chr17 29652931 29652931 1 + G A rs17880521 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTAGACCTTACCCATACCGGGCCTA < 41bp 1 0.559202731096875 1 0.840813398361206 experiment 0.881594537806249 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 19 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652931 synonymous SNV . 0 hm6A_associated_SNPs_18206 6 Likely benign Café-au-lait macules with pulmonary stenosis RCV000293980.1
1896 chr17 29652931 29652931 1 + G A rs17880521 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTAGACCTTACCCATACCGGGCCTA < 41bp 1 0.559202731096875 1 0.840813398361206 experiment 0.881594537806249 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 19 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652931 synonymous SNV . 0 hm6A_associated_SNPs_18206 6 Likely benign Neurofibromatosis, familial spinal RCV000309383.1
1897 chr17 29652931 29652931 1 + G A rs17880521 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTAGACCTTACCCATACCGGGCCTA < 41bp 1 0.559202731096875 1 0.840813398361206 experiment 0.881594537806249 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 19 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652931 synonymous SNV . 0 hm6A_associated_SNPs_18206 6 Likely benign Neurofibromatosis-Noonan syndrome RCV000348881.1
1898 chr17 29652931 29652931 1 + G A rs17880521 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTAGACCTTACCCATACCGGGCCTA < 41bp 1 0.559202731096875 1 0.840813398361206 experiment 0.881594537806249 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 19 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652931 synonymous SNV . 0 hm6A_associated_SNPs_18206 6 other Neurofibromatosis, type 1 RCV000396178.1
1899 chr17 29653037 29653037 1 + A G rs147327414 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCGCAGTCTATGTCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.729080821190581 1 0.770956575870514 experiment 0.541838357618838 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 14 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653037 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_18207 7 Uncertain significance not provided RCV000034584.1
1900 chr17 29653037 29653037 1 + A G rs147327414 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCGCAGTCTATGTCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.729080821190581 1 0.770956575870514 experiment 0.541838357618838 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 14 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653037 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_18207 7 Benign not specified RCV000121634.3
1901 chr17 29653037 29653037 1 + A G rs147327414 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCGCAGTCTATGTCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.729080821190581 1 0.770956575870514 experiment 0.541838357618838 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 14 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653037 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_18207 7 Benign Hereditary cancer-predisposing syndrome RCV000129642.2
1902 chr17 29653037 29653037 1 + A G rs147327414 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCGCAGTCTATGTCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.729080821190581 1 0.770956575870514 experiment 0.541838357618838 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 14 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653037 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_18207 7 other Neurofibromatosis, type 1 RCV000168431.6
1903 chr17 29653037 29653037 1 + A G rs147327414 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCGCAGTCTATGTCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.729080821190581 1 0.770956575870514 experiment 0.541838357618838 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 14 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653037 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_18207 7 Likely benign Neurofibromatosis, familial spinal RCV000305917.1
1904 chr17 29653037 29653037 1 + A G rs147327414 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCGCAGTCTATGTCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.729080821190581 1 0.770956575870514 experiment 0.541838357618838 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 14 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653037 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_18207 7 Likely benign Neurofibromatosis-Noonan syndrome RCV000345616.1
1905 chr17 29653037 29653037 1 + A G rs147327414 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCGCAGTCTATGTCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.729080821190581 1 0.770956575870514 experiment 0.541838357618838 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 14 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653037 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_18207 7 Likely benign Café-au-lait macules with pulmonary stenosis RCV000360704.1
1906 chr17 38457151 38457151 1 + G A rs13706 38457169 + 38457149 38457189 41 AAGTTGATGGTAACAGGATGACCTTGAGCCAAGAAGGAGCA AAATTGATGGTAACAGGATGACCTTGAGCCAAGAAGGAGCA < 41bp 1 0.229520447598001 1 0.0861988067626953 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 3 CDC6 ENSG00000094804 CDS Human protein_coding chr17:38457169 chr17:38457151 nonsynonymous SNV 0.983 1 hm6A_associated_SNPs_18311 2 other not specified RCV000116607.3
1907 chr17 38457151 38457151 1 + G A rs13706 38457169 + 38457149 38457189 41 AAGTTGATGGTAACAGGATGACCTTGAGCCAAGAAGGAGCA AAATTGATGGTAACAGGATGACCTTGAGCCAAGAAGGAGCA < 41bp 1 0.229520447598001 1 0.0861988067626953 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 3 CDC6 ENSG00000094804 CDS Human protein_coding chr17:38457169 chr17:38457151 nonsynonymous SNV 0.983 1 hm6A_associated_SNPs_18311 2 Benign Meier-Gorlin syndrome RCV000365723.1
1908 chr17 39979062 39979062 1 + T A rs1043002 39979075 + 39979055 39979095 41 AGCCCCTTTTCCTCTATGTGACAGCTCCCTAGGACCCCTCT AGCCCCTATTCCTCTATGTGACAGCTCCCTAGGACCCCTCT < 41bp 1 0.375372600030754 1 0.384827703237534 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|31548708;GSE125780;DART-seq;HEK293T;Control 8 FKBP10 ENSG00000141756 UTR3 Human protein_coding chr17:39979075 chr17:39979062 . . 0 hm6A_associated_SNPs_18337 1 Benign Osteogenesis Imperfecta, Recessive RCV000387842.1
1909 chr17 39979081 39979081 1 + C G rs1043005 39979075 + 39979055 39979095 41 AGCCCCTTTTCCTCTATGTGACAGCTCCCTAGGACCCCTCT AGCCCCTTTTCCTCTATGTGACAGCTGCCTAGGACCCCTCT < 41bp 1 0.38392953484476 1 0.413358986377716 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|31548708;GSE125780;DART-seq;HEK293T;Control 27 FKBP10 ENSG00000141756 UTR3 Human protein_coding chr17:39979075 chr17:39979081 . . 0 hm6A_associated_SNPs_18338 1 Benign Osteogenesis Imperfecta, Recessive RCV000293466.1
1910 chr17 39979082 39979082 1 + C G rs1043007 39979075 + 39979055 39979095 41 AGCCCCTTTTCCTCTATGTGACAGCTCCCTAGGACCCCTCT AGCCCCTTTTCCTCTATGTGACAGCTCGCTAGGACCCCTCT < 41bp 1 0.397434789573768 1 0.394195556640625 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|31548708;GSE125780;DART-seq;HEK293T;Control 28 FKBP10 ENSG00000141756 UTR3 Human protein_coding chr17:39979075 chr17:39979082 . . 0 hm6A_associated_SNPs_18339 1 Benign Osteogenesis Imperfecta, Recessive RCV000375077.1
1911 chr17 40765712 40765712 1 + G A rs201417660 40765705 + 40765685 40765725 41 CCTGAACCGGATTGCCACAGACCGCCTGCACATCCAGAACC CCTGAACCGGATTGCCACAGACCGCCTACACATCCAGAACC < 41bp 1 0.396123233867138 1 0.872949600219727 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 28 TUBG1 ENSG00000131462 CDS Human protein_coding chr17:40765705 chr17:40765712 synonymous SNV . 0 hm6A_associated_SNPs_18358 1 Likely benign not specified RCV000442709.1
1912 chr17 40765712 40765712 1 + G A rs201417660 40765723 + 40765703 40765743 41 AGACCGCCTGCACATCCAGAACCCATCCTTCTCCCAGATCA AGACCGCCTACACATCCAGAACCCATCCTTCTCCCAGATCA < 41bp 1 0.416596095650871 1 0.890880942344666 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 10 TUBG1 ENSG00000131462 CDS Human protein_coding chr17:40765723 chr17:40765712 synonymous SNV . 0 hm6A_associated_SNPs_18359 1 Likely benign not specified RCV000442709.1
1913 chr17 42427630 42427630 1 + T C rs25646 42427650 + 42427630 42427670 41 TAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTA CAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTA < 41bp 1 0.579879728103431 1 0.282916337251663 experiment 0.840240543793138 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 GRN ENSG00000030582 CDS Human protein_coding chr17:42427650 chr17:42427630 synonymous SNV . 0 hm6A_associated_SNPs_18394 3 not provided not provided RCV000084440.1
1914 chr17 42427630 42427630 1 + T C rs25646 42427650 + 42427630 42427670 41 TAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTA CAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTA < 41bp 1 0.579879728103431 1 0.282916337251663 experiment 0.840240543793138 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 GRN ENSG00000030582 CDS Human protein_coding chr17:42427650 chr17:42427630 synonymous SNV . 0 hm6A_associated_SNPs_18394 3 Benign not specified RCV000251569.1
1915 chr17 42427630 42427630 1 + T C rs25646 42427650 + 42427630 42427670 41 TAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTA CAGTCAGTTCGAATGCCCGGACTTCTCCACGTGCTGTGTTA < 41bp 1 0.579879728103431 1 0.282916337251663 experiment 0.840240543793138 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 GRN ENSG00000030582 CDS Human protein_coding chr17:42427650 chr17:42427630 synonymous SNV . 0 hm6A_associated_SNPs_18394 3 Likely benign Frontotemporal dementia RCV000280623.1
1916 chr17 42428954 42428954 1 + G A rs63750541 42428934 + 42428914 42428954 41 CTAGGCTGTGTGCTGTGAGGACCACATACACTGCTGTCCCG CTAGGCTGTGTGCTGTGAGGACCACATACACTGCTGTCCCA < 41bp 1 0.358887288904624 1 0.186372071504593 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 41 GRN ENSG00000030582 CDS Human protein_coding chr17:42428934 chr17:42428954 nonsynonymous SNV 0.007 0 hm6A_associated_SNPs_18397 1 not provided not provided RCV000084468.1
1917 chr17 42428954 42428954 1 + G A rs63750541 42428970 + 42428950 42428990 41 TCCCGCGGGGTTTACGTGTGACACGCAGAAGGGTACCTGTG TCCCACGGGGTTTACGTGTGACACGCAGAAGGGTACCTGTG < 41bp 1 0.719987503654176 1 0.29950886964798 experiment 0.560024992691649 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 5 GRN ENSG00000030582 CDS Human protein_coding chr17:42428970 chr17:42428954 nonsynonymous SNV 0.007 0 hm6A_associated_SNPs_18398 1 not provided not provided RCV000084468.1
1918 chr17 45012427 45012427 1 + A G rs150381512 45012438 + 45012418 45012458 41 GGACGAATCACTGCAGTTTAACTCCTCCCTCCAGAAAGTTC GGACGAATCGCTGCAGTTTAACTCCTCCCTCCAGAAAGTTC < 41bp 1 0.547620211167501 1 0.717107176780701 experiment 0.904759577664997 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 10 GOSR2 ENSG00000108433;ENSG00000262633 CDS Human other chr17:45012438 chr17:45012427 synonymous SNV . 0 hm6A_associated_SNPs_18453 1 Benign not specified RCV000430962.1
1919 chr17 45018463 45018463 1 + T C rs1052586 45018475 + 45018455 45018495 41 TGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGA TGTGCCTACTGTGATTTAAAACAGGTGGGTTATCAAGAGGA < 41bp 1 0.146020544154968 1 0.87245512008667 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 9 GOSR2 ENSG00000108433;ENSG00000262633 intronic Human other chr17:45018475 chr17:45018463 . . 0 hm6A_associated_SNPs_18455 1 Benign Progressive myoclonic epilepsy RCV000402004.1
1920 chr17 45018468 45018468 1 + A G rs61745471 45018475 + 45018455 45018495 41 TGTGCCTATTGTGATTTAAAACAGGTGGGTTATCAAGAGGA TGTGCCTATTGTGGTTTAAAACAGGTGGGTTATCAAGAGGA < 41bp 1 0.127223392533623 1 0.862464904785156 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 14 GOSR2 ENSG00000108433;ENSG00000262633 intronic Human other chr17:45018475 chr17:45018468 . . 0 hm6A_associated_SNPs_18456 1 Likely benign Progressive myoclonic epilepsy RCV000299482.1
1921 chr17 46024660 46024660 1 + A C rs7220104 46024646 + 46024626 46024666 41 TCATTCATAGCAGCCAGGAAACAATAGGAACCAAAAGCCTC TCATTCATAGCAGCCAGGAAACAATAGGAACCAACAGCCTC < 41bp 1 0.437102792069355 1 0.00859940052032471 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 35 PNPO ENSG00000263798;ENSG00000264019 ncRNA_intronic Human other chr17:46024646 chr17:46024660 . . 0 hm6A_associated_SNPs_18471 1 Benign Pyridoxal 5'-phosphate-dependent epilepsy RCV000389748.1
1922 chr17 46024759 46024759 1 + C T rs7219707 46024758 + 46024738 46024778 41 GTTCCTCCCCCTGCCTTAAAACACCCCACTATCTCTGTAAA GTTCCTCCCCCTGCCTTAAAATACCCCACTATCTCTGTAAA Direct Loss 1 0.725650384333683 1 0.000320494174957275 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 22 PNPO ENSG00000263798;ENSG00000264019 ncRNA_intronic Human other chr17:46024758 chr17:46024759 . . 0 hm6A_associated_SNPs_18472 1 Likely benign Pyridoxal 5'-phosphate-dependent epilepsy RCV000279067.1
1923 chr17 46026156 46026156 1 + A G rs1986693 46026164 + 46026144 46026184 41 CACATGCCCGCTAACCAGGGACAGACTGGATGAGCAAGCAA CACATGCCCGCTGACCAGGGACAGACTGGATGAGCAAGCAA < 41bp 1 0.494222910313624 1 0.817862629890442 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 13 PNPO ENSG00000263798 ncRNA_intronic Human processed_transcript chr17:46026164 chr17:46026156 . . 0 hm6A_associated_SNPs_18473 1 Benign Pyridoxal 5'-phosphate-dependent epilepsy RCV000340353.1
1924 chr17 58236653 58236653 1 + T C rs142961963 58236649 + 58236629 58236669 41 ACAGACAGTGAGCATGAAGGACAATGTCAGGCCCCTGCAGC ACAGACAGTGAGCATGAAGGACAACGTCAGGCCCCTGCAGC < 41bp 1 0.669523619491514 1 0.975304841995239 experiment 0.660952761016972 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 25 CA4 ENSG00000167434 CDS Human protein_coding chr17:58236649 chr17:58236653 synonymous SNV . 0 hm6A_associated_SNPs_18625 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000319783.1
1925 chr17 61685381 61685381 1 + C T rs112392132 61685362 + 61685342 61685382 41 GTCTATGATAACATTGAATAACCAGGCTACATGTGCCCCCG GTCTATGATAACATTGAATAACCAGGCTACATGTGCCCCTG < 41bp 1 0.429269978334334 1 0.937230169773102 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 TACO1 ENSG00000136463 UTR3 Human protein_coding chr17:61685362 chr17:61685381 . . 0 hm6A_associated_SNPs_18651 1 Benign not specified RCV000196435.1
1926 chr17 70117364 70117364 1 + G A rs115615437 70117352 + 70117332 70117372 41 CTTGGAGCGGGCAGCTGTGAACTGGCCACCCCGCGCCTTCC CTTGGAGCGGGCAGCTGTGAACTGGCCACCCCACGCCTTCC < 41bp 1 0.420121687788253 1 0.998756051063538 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 33 SOX9 ENSG00000234899 ncRNA_intronic Human processed_transcript chr17:70117352 chr17:70117364 . . 0 hm6A_associated_SNPs_18708 1 Likely benign Camptomelic dysplasia RCV000315735.1
1927 chr17 73261920 73261920 1 + C T rs61745718 73261919 + 73261899 73261939 41 GCTGCTGGAGGCTTTCCATAACCAGGGCCCCGTGATCAAGA GCTGCTGGAGGCTTTCCATAATCAGGGCCCCGTGATCAAGA Direct Loss 1 0.596270268387628 1 0.980423927307129 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 22 MRPS7 ENSG00000125445 CDS Human protein_coding chr17:73261919 chr17:73261920 synonymous SNV . 0 hm6A_associated_SNPs_18752 1 Likely benign not specified RCV000425566.1
1928 chr17 73269095 73269095 1 + A C rs73356384 73269092 - 73269072 73269112 41 TTTTCCAACCTATTTAATAGACATTAAAGCTAAACACACAT TTTTCCAACCTATTTAAGAGACATTAAAGCTAAACACACAT < 41bp 1 0.451705112323489 1 0.840097188949585 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 LOC100287042 ENSG00000263843 ncRNA_exonic Human antisense chr17:73269092 chr17:73269095 . . 0 hm6A_associated_SNPs_18762 1 Likely benign Amish lethal microcephaly RCV000275329.1
1929 chr17 73269258 73269258 1 + G C rs7198 73269249 - 73269229 73269269 41 CAGCCCACACTCCAAAGGAAACAGACGCCATCCTACACCTA CAGCCCACACTGCAAAGGAAACAGACGCCATCCTACACCTA < 41bp 1 0.679983499940406 1 0.832801342010498 experiment 0.640033000119187 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 LOC100287042 ENSG00000263843 ncRNA_exonic Human antisense chr17:73269249 chr17:73269258 . . 0 hm6A_associated_SNPs_18763 1 Likely benign Amish lethal microcephaly RCV000333409.1
1930 chr17 73269258 73269258 1 + G C rs7198 73269271 - 73269251 73269291 41 AAGTTGCTGTTTCTCCTCTGACCAGCCCACACTCCAAAGGA AAGTTGCTGTTTCTCCTCTGACCAGCCCACACTGCAAAGGA < 41bp 1 0.528219344072309 1 0.81476092338562 experiment 0.943561311855381 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 LOC100287042 ENSG00000263843 ncRNA_exonic Human antisense chr17:73269271 chr17:73269258 . . 0 hm6A_associated_SNPs_18764 1 Likely benign Amish lethal microcephaly RCV000333409.1
1931 chr17 73269530 73269530 1 + A G rs1809352 73269520 - 73269500 73269540 41 CAGCGCTGAGTGCAGGAAGGACCCCAGGTCTTCCCTGGAGG CAGCGCTGAGCGCAGGAAGGACCCCAGGTCTTCCCTGGAGG < 41bp 1 0.7002361400062 1 0.0102327167987823 experiment 0.599527719987601 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 11 LOC100287042 ENSG00000263843 ncRNA_exonic Human antisense chr17:73269520 chr17:73269530 . . 0 hm6A_associated_SNPs_18765 2 Benign not specified RCV000118365.1
1932 chr17 73269530 73269530 1 + A G rs1809352 73269520 - 73269500 73269540 41 CAGCGCTGAGTGCAGGAAGGACCCCAGGTCTTCCCTGGAGG CAGCGCTGAGCGCAGGAAGGACCCCAGGTCTTCCCTGGAGG < 41bp 1 0.7002361400062 1 0.0102327167987823 experiment 0.599527719987601 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 11 LOC100287042 ENSG00000263843 ncRNA_exonic Human antisense chr17:73269520 chr17:73269530 . . 0 hm6A_associated_SNPs_18765 2 Likely benign Amish lethal microcephaly RCV000327662.1
1933 chr17 73269530 73269530 1 + A G rs1809352 73269549 - 73269529 73269569 41 TCTTCCACTGCATGAACAGGACAGCCAGCCAGCGCTGAGTG TCTTCCACTGCATGAACAGGACAGCCAGCCAGCGCTGAGCG < 41bp 1 0.76275408396652 1 0.377026706933975 experiment 0.474491832066961 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 40 LOC100287042 ENSG00000263843 ncRNA_exonic Human antisense chr17:73269549 chr17:73269530 . . 0 hm6A_associated_SNPs_18766 2 Benign not specified RCV000118365.1
1934 chr17 73269530 73269530 1 + A G rs1809352 73269549 - 73269529 73269569 41 TCTTCCACTGCATGAACAGGACAGCCAGCCAGCGCTGAGTG TCTTCCACTGCATGAACAGGACAGCCAGCCAGCGCTGAGCG < 41bp 1 0.76275408396652 1 0.377026706933975 experiment 0.474491832066961 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 40 LOC100287042 ENSG00000263843 ncRNA_exonic Human antisense chr17:73269549 chr17:73269530 . . 0 hm6A_associated_SNPs_18766 2 Likely benign Amish lethal microcephaly RCV000327662.1
1935 chr17 73512884 73512884 1 + T G rs8079373 73512895 + 73512875 73512915 41 GCGCTCGCATGGCCCCAAGGACTTTCTGCCCGACGGCTCGG GCGCTCGCAGGGCCCCAAGGACTTTCTGCCCGACGGCTCGG < 41bp 1 0.588931294038057 1 0.995853245258331 experiment 0.822137411923887 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73512895 chr17:73512884 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_18769 2 Benign not specified RCV000082835.7
1936 chr17 73512884 73512884 1 + T G rs8079373 73512895 + 73512875 73512915 41 GCGCTCGCATGGCCCCAAGGACTTTCTGCCCGACGGCTCGG GCGCTCGCAGGGCCCCAAGGACTTTCTGCCCGACGGCTCGG < 41bp 1 0.588931294038057 1 0.995853245258331 experiment 0.822137411923887 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73512895 chr17:73512884 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_18769 2 Benign Pontoneocerebellar hypoplasia RCV000352813.1
1937 chr17 73517536 73517536 1 + G A rs79508780 73517522 + 73517502 73517542 41 CCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGC CCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCATGCAGC < 41bp 1 0.372956190077043 1 0.258073598146439 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 35 TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73517522 chr17:73517536 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_18770 2 Benign not specified RCV000147786.3
1938 chr17 73517536 73517536 1 + G A rs79508780 73517522 + 73517502 73517542 41 CCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGC CCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCATGCAGC < 41bp 1 0.372956190077043 1 0.258073598146439 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 35 TSEN54 ENSG00000182173 CDS Human protein_coding chr17:73517522 chr17:73517536 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_18770 2 Likely benign Pontoneocerebellar hypoplasia RCV000379012.1
1939 chr17 73520662 73520662 1 + T C rs111972085 73520650 + 73520630 73520670 41 TCTGATACTCACAGAGTGAAACTGTGACCCTCTCCCTTCCC TCTGATACTCACAGAGTGAAACTGTGACCCTCCCCCTTCCC < 41bp 1 0.714402314723613 1 0.924390196800232 experiment 0.571195370552773 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 33 TSEN54 ENSG00000182173 UTR3 Human protein_coding chr17:73520650 chr17:73520662 . . 0 hm6A_associated_SNPs_18771 1 Uncertain significance Pontoneocerebellar hypoplasia RCV000397937.1
1940 chr17 73520662 73520662 1 + T C rs111972085 73520656 + 73520636 73520676 41 ACTCACAGAGTGAAACTGTGACCCTCTCCCTTCCCTGCTGC ACTCACAGAGTGAAACTGTGACCCTCCCCCTTCCCTGCTGC < 41bp 1 0.512647002922875 1 0.896118760108948 experiment 0.974705994154251 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 27 TSEN54 ENSG00000182173 UTR3 Human protein_coding chr17:73520656 chr17:73520662 . . 0 hm6A_associated_SNPs_18772 1 Uncertain significance Pontoneocerebellar hypoplasia RCV000397937.1
1941 chr17 73751812 73751812 1 + C T rs140575355 73751793 + 73751773 73751813 41 TGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACG TGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACATG < 41bp 1 0.0976991130079819 1 0.012743353843689 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 40 ITGB4 ENSG00000132470 CDS Human protein_coding chr17:73751793 chr17:73751812 nonsynonymous SNV 0.746 4 hm6A_associated_SNPs_18780 1 Uncertain significance Epidermolysis bullosa junctionalis with pyloric atresia RCV000380822.1
1942 chr17 73753575 73753575 1 + G A rs80224547 73753577 + 73753557 73753597 41 CCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACC CCCAGGAGTTTGTGAGCCAGACACTGACCACCAGCGGAACC < 41bp 1 0.795707297748087 1 0.866202831268311 experiment 0.408585404503826 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 19 ITGB4 ENSG00000132470 CDS Human protein_coding chr17:73753577 chr17:73753575 nonsynonymous SNV 0.124 0 hm6A_associated_SNPs_18781 1 Uncertain significance Epidermolysis bullosa junctionalis with pyloric atresia RCV000337992.1
1943 chr17 75316009 75316009 1 + G T rs138208028 75316011 + 75315991 75316031 41 TGCCGGAAGCCGCACTCGGGACCTCTGCAGCCACCGACCAG TGCCGGAAGCCGCACTCGTGACCTCTGCAGCCACCGACCAG < 41bp 1 0.381741516476748 1 0.868066370487213 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 SEPT9 ENSG00000184640 UTR5 Human protein_coding chr17:75316011 chr17:75316009 . . 0 hm6A_associated_SNPs_18826 1 Benign Hereditary Neuralgic Amyotrophy (HNA) RCV000311820.1
1944 chr17 75316091 75316091 1 + C T rs75147264 75316085 + 75316065 75316105 41 CAGACCCGGTGGTCTGCCGGACTCCTCGGGGCCCACTTCGG CAGACCCGGTGGTCTGCCGGACTCCTTGGGGCCCACTTCGG < 41bp 1 0.431451313639527 1 0.894531846046448 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 27 SEPT9 ENSG00000184640 UTR5 Human protein_coding chr17:75316085 chr17:75316091 . . 0 hm6A_associated_SNPs_18827 1 Benign Hereditary Neuralgic Amyotrophy (HNA) RCV000329275.1
1945 chr17 75316103 75316103 1 + C T rs530024170 75316085 + 75316065 75316105 41 CAGACCCGGTGGTCTGCCGGACTCCTCGGGGCCCACTTCGG CAGACCCGGTGGTCTGCCGGACTCCTCGGGGCCCACTTTGG < 41bp 1 0.394773160667308 1 0.853765964508057 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 SEPT9 ENSG00000184640 UTR5 Human protein_coding chr17:75316085 chr17:75316103 . . 0 hm6A_associated_SNPs_18828 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000362921.1
1946 chr17 75495000 75495000 1 + C T rs28364840 75494992 + 75494972 75495012 41 TGAGAGCACCCACTGAATTGACATGACCCTCTGTCCCCAGG TGAGAGCACCCACTGAATTGACATGACCTTCTGTCCCCAGG < 41bp 1 0.366414205157253 1 0.967373371124268 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75494992 chr17:75495000 . . 0 hm6A_associated_SNPs_18831 1 Benign Hereditary Neuralgic Amyotrophy (HNA) RCV000342020.1
1947 chr17 75495000 75495000 1 + C T rs28364840 75494997 + 75494977 75495017 41 GCACCCACTGAATTGACATGACCCTCTGTCCCCAGGCCTGG GCACCCACTGAATTGACATGACCTTCTGTCCCCAGGCCTGG < 41bp 1 0.124647669193708 1 0.955929160118103 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75494997 chr17:75495000 . . 0 hm6A_associated_SNPs_18832 1 Benign Hereditary Neuralgic Amyotrophy (HNA) RCV000342020.1
1948 chr17 75495219 75495219 1 + C A rs28364841 75495224 + 75495204 75495244 41 AGCCCACCAGGAGCACCTGGACCCCCTGCCCGCCACATGGT AGCCCACCAGGAGCAACTGGACCCCCTGCCCGCCACATGGT < 41bp 1 0.213567843760239 1 0.878130316734314 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 16 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75495224 chr17:75495219 . . 0 hm6A_associated_SNPs_18833 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000367229.1
1949 chr17 75495313 75495313 1 + C G rs527593353 75495293 + 75495273 75495313 41 CCTGCTCCTAAGGGTAGAAAACTCCAGGGTCCCCTGCCACC CCTGCTCCTAAGGGTAGAAAACTCCAGGGTCCCCTGCCACG < 41bp 1 0.145587597812388 1 0.904577732086182 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 41 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75495293 chr17:75495313 . . 0 hm6A_associated_SNPs_18834 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000277364.1
1950 chr17 75495397 75495397 1 + T C rs9038 75495412 + 75495392 75495432 41 CTGCTTGGCCAGATGCGGGGACAGGCTGGAATGAGGGAGGC CTGCTCGGCCAGATGCGGGGACAGGCTGGAATGAGGGAGGC < 41bp 1 0.328726767653312 1 0.836170434951782 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 6 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75495412 chr17:75495397 . . 0 hm6A_associated_SNPs_18835 1 Benign Hereditary Neuralgic Amyotrophy (HNA) RCV000363814.1
1951 chr17 75495775 75495775 1 + G A rs368116 75495789 + 75495769 75495809 41 GTGTCTGGGTTTGGCCCAAGACTGGGCTGTAGTTACATTAA GTGTCTAGGTTTGGCCCAAGACTGGGCTGTAGTTACATTAA < 41bp 1 0.152742824807535 1 0.0357296466827393 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 7 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75495789 chr17:75495775 . . 0 hm6A_associated_SNPs_18836 1 Benign Hereditary Neuralgic Amyotrophy (HNA) RCV000351367.1
1952 chr17 75496636 75496636 1 + A G rs189204974 75496622 + 75496602 75496642 41 TTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAATGTATT TTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAGTGTATT < 41bp 1 0.310924461769558 1 0.203440129756927 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 35 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75496622 chr17:75496636 . . 0 hm6A_associated_SNPs_18839 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000320227.1
1953 chr17 75496640 75496640 1 + A G rs180847518 75496622 + 75496602 75496642 41 TTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAATGTATT TTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAATGTGTT < 41bp 1 0.33672011724894 1 0.214802354574203 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 39 SEPT9 ENSG00000184640 UTR3 Human protein_coding chr17:75496622 chr17:75496640 . . 0 hm6A_associated_SNPs_18840 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000374825.1
1954 chr17 78055455 78055455 1 + C G rs191736683 78055454 + 78055434 78055474 41 TGGCGAGCATCCTGAACCGGACAGAGACGGAAGCCACACTG TGGCGAGCATCCTGAACCGGAGAGAGACGGAAGCCACACTG Direct Loss 1 0.347177429204458 1 0.9921715259552 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 22 CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78055454 chr17:78055455 nonsynonymous SNV 0.075 0 hm6A_associated_SNPs_18887 1 Benign Primary ciliary dyskinesia RCV000195666.3
1955 chr17 78082504 78082504 1 + G A rs1800304 78082518 + 78082498 78082538 41 CGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGG CGTCCAATGGAACGACCTGGACTACATGGACTCCCGGAGGG < 41bp 1 0.36381948224993 1 0.998792290687561 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 GAA ENSG00000171298 CDS Human protein_coding chr17:78082518 chr17:78082504 synonymous SNV . 0 hm6A_associated_SNPs_18888 2 Benign not specified RCV000078155.6
1956 chr17 78082504 78082504 1 + G A rs1800304 78082518 + 78082498 78082538 41 CGTCCAGTGGAACGACCTGGACTACATGGACTCCCGGAGGG CGTCCAATGGAACGACCTGGACTACATGGACTCCCGGAGGG < 41bp 1 0.36381948224993 1 0.998792290687561 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 GAA ENSG00000171298 CDS Human protein_coding chr17:78082518 chr17:78082504 synonymous SNV . 0 hm6A_associated_SNPs_18888 2 Benign Glycogen storage disease, type II RCV000344845.1
1957 chr17 78082586 78082586 1 + C G rs528369909 78082569 + 78082549 78082589 41 CAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGG CAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGGAGG < 41bp 1 0.404144363186477 1 0.997968256473541 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 38 GAA ENSG00000171298 CDS Human protein_coding chr17:78082569 chr17:78082586 nonsynonymous SNV 0.598 1 hm6A_associated_SNPs_18889 1 Benign not specified RCV000357182.1
1958 chr17 78082587 78082587 1 + A G rs200294882 78082569 + 78082549 78082589 41 CAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCAGG CAACAAGGATGGCTTCCGGGACTTCCCGGCCATGGTGCGGG < 41bp 1 0.423914695707326 1 0.997144639492035 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|30867593;GSE121942;miCLIP;HepG2;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 39 GAA ENSG00000171298 CDS Human protein_coding chr17:78082569 chr17:78082587 nonsynonymous SNV 0.039 1 hm6A_associated_SNPs_18890 1 other not specified RCV000346911.2
1959 chr17 78090852 78090852 1 + G A rs138183791 78090867 + 78090847 78090887 41 AGGCCGGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGC AGGCCAGGAAGGCCGAAGTGACTGGCTACTTCCCCTTGGGC < 41bp 1 0.2919261791879 1 0.955442428588867 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 6 GAA ENSG00000171298 CDS Human protein_coding chr17:78090867 chr17:78090852 nonsynonymous SNV 0.380 5 hm6A_associated_SNPs_18892 1 Uncertain significance not specified RCV000286379.1
1960 chr17 78092473 78092473 1 + G C rs377286472 78092453 + 78092433 78092473 41 CTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGG CTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGC < 41bp 1 0.397171893087095 1 0.732698559761047 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 41 GAA ENSG00000171298 CDS Human protein_coding chr17:78092453 chr17:78092473 nonsynonymous SNV 0.146 1 hm6A_associated_SNPs_18893 2 Benign not specified RCV000245954.3
1961 chr17 78092473 78092473 1 + G C rs377286472 78092453 + 78092433 78092473 41 CTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGG CTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGC < 41bp 1 0.397171893087095 1 0.732698559761047 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 41 GAA ENSG00000171298 CDS Human protein_coding chr17:78092453 chr17:78092473 nonsynonymous SNV 0.146 1 hm6A_associated_SNPs_18893 2 Uncertain significance Glycogen storage disease, type II RCV000305205.1
1962 chr18 2750477 2750477 1 + A G rs2304859 2750467 + 2750447 2750487 41 TCGTCTCAATGTTAAATATGACAAAGATGCATCCTTCTTAG TCGTCTCAATGTTAAATATGACAAAGATGCGTCCTTCTTAG < 41bp 1 0.724552370878986 1 0.0265849828720093 experiment 0.550895258242029 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 31 SMCHD1 ENSG00000101596 CDS Human protein_coding chr18:2750467 chr18:2750477 synonymous SNV . 0 hm6A_associated_SNPs_19079 1 Benign not specified RCV000241559.1
1963 chr18 9102712 9102712 1 + G T rs139650842 9102727 + 9102707 9102747 41 GGCGCGGCTGGGGAAGGTGAACAGTGTGGCCCGCCATGTTC GGCGCTGCTGGGGAAGGTGAACAGTGTGGCCCGCCATGTTC < 41bp 1 0.471661438060513 1 0.596097588539124 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 6 NDUFV2 ENSG00000178127 UTR5 Human protein_coding chr18:9102727 chr18:9102712 . . 0 hm6A_associated_SNPs_19133 1 Uncertain significance Mitochondrial complex I deficiency RCV000370310.1
1964 chr18 9117867 9117867 1 + T C rs906807 9117863 + 9117843 9117883 41 ATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCT ATGTAAGGAATTTGCATAAGACAGCTATGCAAAATGGAGCT < 41bp 1 0.784214828343643 1 0.0311508476734161 experiment 0.431570343312715 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 NDUFV2 ENSG00000178127 CDS Human protein_coding chr18:9117863 chr18:9117867 nonsynonymous SNV 0.747 0 hm6A_associated_SNPs_19135 3 Uncertain significance Parkinson disease, mitochondrial RCV000009621.2
1965 chr18 9117867 9117867 1 + T C rs906807 9117863 + 9117843 9117883 41 ATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCT ATGTAAGGAATTTGCATAAGACAGCTATGCAAAATGGAGCT < 41bp 1 0.784214828343643 1 0.0311508476734161 experiment 0.431570343312715 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 NDUFV2 ENSG00000178127 CDS Human protein_coding chr18:9117863 chr18:9117867 nonsynonymous SNV 0.747 0 hm6A_associated_SNPs_19135 3 other not specified RCV000117718.3
1966 chr18 9117867 9117867 1 + T C rs906807 9117863 + 9117843 9117883 41 ATGTAAGGAATTTGCATAAGACAGTTATGCAAAATGGAGCT ATGTAAGGAATTTGCATAAGACAGCTATGCAAAATGGAGCT < 41bp 1 0.784214828343643 1 0.0311508476734161 experiment 0.431570343312715 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 25 NDUFV2 ENSG00000178127 CDS Human protein_coding chr18:9117863 chr18:9117867 nonsynonymous SNV 0.747 0 hm6A_associated_SNPs_19135 3 Benign Mitochondrial complex I deficiency RCV000312272.1
1967 chr18 12329536 12329536 1 + C G rs1129115 12329535 + 12329515 12329555 41 ACCAGCTGAAACCACAGTGGACAGACTGAGATGGCCTCCCT ACCAGCTGAAACCACAGTGGAGAGACTGAGATGGCCTCCCT Direct Loss 1 0.733217784880156 1 0.940292119979858 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 22 AFG3L2;TUBB6 ENSG00000141385;ENSG00000176014 UTR3 Human other chr18:12329535 chr18:12329536 . . 0 hm6A_associated_SNPs_19182 1 Benign Spinocerebellar Ataxia, Dominant RCV000357421.1
1968 chr18 20602153 20602153 1 + G A rs140196819 20602148 + 20602128 20602168 41 AAATTGGCTTCCTGCTCAAGACACCGATTCCGCTACATTCC AAATTGGCTTCCTGCTCAAGACACCAATTCCGCTACATTCC < 41bp 1 0.633051861300632 1 0.108112066984177 experiment 0.733896277398736 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 26 RBBP8 ENSG00000101773 CDS Human protein_coding chr18:20602148 chr18:20602153 nonsynonymous SNV 0.974 4 hm6A_associated_SNPs_19209 2 Uncertain significance Microcephaly with mental retardation and digital anomalies RCV000275610.1
1969 chr18 20602153 20602153 1 + G A rs140196819 20602148 + 20602128 20602168 41 AAATTGGCTTCCTGCTCAAGACACCGATTCCGCTACATTCC AAATTGGCTTCCTGCTCAAGACACCAATTCCGCTACATTCC < 41bp 1 0.633051861300632 1 0.108112066984177 experiment 0.733896277398736 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 26 RBBP8 ENSG00000101773 CDS Human protein_coding chr18:20602148 chr18:20602153 nonsynonymous SNV 0.974 4 hm6A_associated_SNPs_19209 2 Uncertain significance Seckel syndrome RCV000367789.1
1970 chr18 29125833 29125833 1 + T C rs201051252 29125817 + 29125797 29125837 41 TATTGAAGGAGAGCTAGATGACCGCTTCTTAGATGATTTGG TATTGAAGGAGAGCTAGATGACCGCTTCTTAGATGACTTGG < 41bp 1 0.470080576028725 1 0.874753952026367 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 37 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125817 chr18:29125833 synonymous SNV . 0 hm6A_associated_SNPs_19242 3 Benign not specified RCV000154702.1
1971 chr18 29125833 29125833 1 + T C rs201051252 29125817 + 29125797 29125837 41 TATTGAAGGAGAGCTAGATGACCGCTTCTTAGATGATTTGG TATTGAAGGAGAGCTAGATGACCGCTTCTTAGATGACTTGG < 41bp 1 0.470080576028725 1 0.874753952026367 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 37 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125817 chr18:29125833 synonymous SNV . 0 hm6A_associated_SNPs_19242 3 Benign Cardiovascular phenotype RCV000253522.1
1972 chr18 29125833 29125833 1 + T C rs201051252 29125817 + 29125797 29125837 41 TATTGAAGGAGAGCTAGATGACCGCTTCTTAGATGATTTGG TATTGAAGGAGAGCTAGATGACCGCTTCTTAGATGACTTGG < 41bp 1 0.470080576028725 1 0.874753952026367 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 37 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125817 chr18:29125833 synonymous SNV . 0 hm6A_associated_SNPs_19242 3 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000473272.1
1973 chr18 29125854 29125854 1 + A G rs1042769 29125852 + 29125832 29125872 41 ATTTGGGACTTAAATTCAAGACACTAGCTGAAGTTTGCCTG ATTTGGGACTTAAATTCAAGACGCTAGCTGAAGTTTGCCTG Direct Loss 1 0.688287373811576 1 0.949914753437042 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125852 chr18:29125854 synonymous SNV . 0 hm6A_associated_SNPs_19243 4 Benign not specified RCV000037287.4
1974 chr18 29125854 29125854 1 + A G rs1042769 29125852 + 29125832 29125872 41 ATTTGGGACTTAAATTCAAGACACTAGCTGAAGTTTGCCTG ATTTGGGACTTAAATTCAAGACGCTAGCTGAAGTTTGCCTG Direct Loss 1 0.688287373811576 1 0.949914753437042 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125852 chr18:29125854 synonymous SNV . 0 hm6A_associated_SNPs_19243 4 Benign Cardiovascular phenotype RCV000248706.1
1975 chr18 29125854 29125854 1 + A G rs1042769 29125852 + 29125832 29125872 41 ATTTGGGACTTAAATTCAAGACACTAGCTGAAGTTTGCCTG ATTTGGGACTTAAATTCAAGACGCTAGCTGAAGTTTGCCTG Direct Loss 1 0.688287373811576 1 0.949914753437042 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125852 chr18:29125854 synonymous SNV . 0 hm6A_associated_SNPs_19243 4 Likely benign Dilated Cardiomyopathy, Dominant RCV000351862.1
1976 chr18 29125854 29125854 1 + A G rs1042769 29125852 + 29125832 29125872 41 ATTTGGGACTTAAATTCAAGACACTAGCTGAAGTTTGCCTG ATTTGGGACTTAAATTCAAGACGCTAGCTGAAGTTTGCCTG Direct Loss 1 0.688287373811576 1 0.949914753437042 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 23 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125852 chr18:29125854 synonymous SNV . 0 hm6A_associated_SNPs_19243 4 Likely benign Cardiomyopathy, ARVC RCV000371577.1
1977 chr18 29125935 29125935 1 + T C rs78310842 29125917 + 29125897 29125937 41 GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTAT GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGCAT < 41bp 1 0.373949925257312 1 0.884077548980713 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 39 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125917 chr18:29125935 synonymous SNV . 0 hm6A_associated_SNPs_19244 2 Benign not specified RCV000037288.3
1978 chr18 29125935 29125935 1 + T C rs78310842 29125917 + 29125897 29125937 41 GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTAT GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGCAT < 41bp 1 0.373949925257312 1 0.884077548980713 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 39 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125917 chr18:29125935 synonymous SNV . 0 hm6A_associated_SNPs_19244 2 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000233928.2
1979 chr18 29125935 29125935 1 + T C rs78310842 29125940 + 29125920 29125960 41 TGCCACAGAAACAAGTATGAACACAGCTTCACATTCACTCT TGCCACAGAAACAAGCATGAACACAGCTTCACATTCACTCT < 41bp 1 0.785572756744067 1 0.868287086486816 experiment 0.428854486511865 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 16 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125940 chr18:29125935 synonymous SNV . 0 hm6A_associated_SNPs_19245 2 Benign not specified RCV000037288.3
1980 chr18 29125935 29125935 1 + T C rs78310842 29125940 + 29125920 29125960 41 TGCCACAGAAACAAGTATGAACACAGCTTCACATTCACTCT TGCCACAGAAACAAGCATGAACACAGCTTCACATTCACTCT < 41bp 1 0.785572756744067 1 0.868287086486816 experiment 0.428854486511865 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 16 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125940 chr18:29125935 synonymous SNV . 0 hm6A_associated_SNPs_19245 2 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000233928.2
1981 chr18 29125936 29125936 1 + A C rs16962093 29125917 + 29125897 29125937 41 GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTAT GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTCT < 41bp 1 0.38230973539488 1 0.842597723007202 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 40 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125917 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19246 4 Benign not specified RCV000037289.4
1982 chr18 29125936 29125936 1 + A C rs16962093 29125917 + 29125897 29125937 41 GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTAT GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTCT < 41bp 1 0.38230973539488 1 0.842597723007202 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 40 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125917 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19246 4 Likely benign Cardiomyopathy, ARVC RCV000279614.1
1983 chr18 29125936 29125936 1 + A C rs16962093 29125917 + 29125897 29125937 41 GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTAT GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTCT < 41bp 1 0.38230973539488 1 0.842597723007202 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 40 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125917 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19246 4 Likely benign Dilated Cardiomyopathy, Dominant RCV000336950.1
1984 chr18 29125936 29125936 1 + A C rs16962093 29125917 + 29125897 29125937 41 GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTAT GAAATTGAGCAGAGACAAAAACCTGCCACAGAAACAAGTCT < 41bp 1 0.38230973539488 1 0.842597723007202 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 40 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125917 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19246 4 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000463983.1
1985 chr18 29125936 29125936 1 + A C rs16962093 29125940 + 29125920 29125960 41 TGCCACAGAAACAAGTATGAACACAGCTTCACATTCACTCT TGCCACAGAAACAAGTCTGAACACAGCTTCACATTCACTCT < 41bp 1 0.731903167961926 1 0.756529033184052 experiment 0.536193664076148 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125940 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19247 4 Benign not specified RCV000037289.4
1986 chr18 29125936 29125936 1 + A C rs16962093 29125940 + 29125920 29125960 41 TGCCACAGAAACAAGTATGAACACAGCTTCACATTCACTCT TGCCACAGAAACAAGTCTGAACACAGCTTCACATTCACTCT < 41bp 1 0.731903167961926 1 0.756529033184052 experiment 0.536193664076148 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125940 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19247 4 Likely benign Cardiomyopathy, ARVC RCV000279614.1
1987 chr18 29125936 29125936 1 + A C rs16962093 29125940 + 29125920 29125960 41 TGCCACAGAAACAAGTATGAACACAGCTTCACATTCACTCT TGCCACAGAAACAAGTCTGAACACAGCTTCACATTCACTCT < 41bp 1 0.731903167961926 1 0.756529033184052 experiment 0.536193664076148 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125940 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19247 4 Likely benign Dilated Cardiomyopathy, Dominant RCV000336950.1
1988 chr18 29125936 29125936 1 + A C rs16962093 29125940 + 29125920 29125960 41 TGCCACAGAAACAAGTATGAACACAGCTTCACATTCACTCT TGCCACAGAAACAAGTCTGAACACAGCTTCACATTCACTCT < 41bp 1 0.731903167961926 1 0.756529033184052 experiment 0.536193664076148 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29125940 chr18:29125936 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_19247 4 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000463983.1
1989 chr18 29126235 29126235 1 + T G rs79229040 29126239 + 29126219 29126259 41 AGCCACAGAGCCTTATTGTGACAGAGAGGGTGTATGCTCCA AGCCACAGAGCCTTATGGTGACAGAGAGGGTGTATGCTCCA < 41bp 1 0.768751510564934 1 0.488113284111023 experiment 0.462496978870132 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 17 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126239 chr18:29126235 nonsynonymous SNV 0.920 1 hm6A_associated_SNPs_19248 2 other not specified RCV000037295.3
1990 chr18 29126235 29126235 1 + T G rs79229040 29126239 + 29126219 29126259 41 AGCCACAGAGCCTTATTGTGACAGAGAGGGTGTATGCTCCA AGCCACAGAGCCTTATGGTGACAGAGAGGGTGTATGCTCCA < 41bp 1 0.768751510564934 1 0.488113284111023 experiment 0.462496978870132 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 17 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126239 chr18:29126235 nonsynonymous SNV 0.920 1 hm6A_associated_SNPs_19248 2 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000231454.2
1991 chr18 29126558 29126558 1 + C T rs149617776 29126567 + 29126547 29126587 41 AAATTCTATGACGGCTAGGAACACCACGGTGTCTGGAGCTG AAATTCTATGATGGCTAGGAACACCACGGTGTCTGGAGCTG < 41bp 1 0.612137597968145 1 0.0133771598339081 experiment 0.775724804063711 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126567 chr18:29126558 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_19249 5 Likely benign not specified RCV000154705.1
1992 chr18 29126558 29126558 1 + C T rs149617776 29126567 + 29126547 29126587 41 AAATTCTATGACGGCTAGGAACACCACGGTGTCTGGAGCTG AAATTCTATGATGGCTAGGAACACCACGGTGTCTGGAGCTG < 41bp 1 0.612137597968145 1 0.0133771598339081 experiment 0.775724804063711 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126567 chr18:29126558 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_19249 5 Likely benign not provided RCV000172531.1
1993 chr18 29126558 29126558 1 + C T rs149617776 29126567 + 29126547 29126587 41 AAATTCTATGACGGCTAGGAACACCACGGTGTCTGGAGCTG AAATTCTATGATGGCTAGGAACACCACGGTGTCTGGAGCTG < 41bp 1 0.612137597968145 1 0.0133771598339081 experiment 0.775724804063711 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126567 chr18:29126558 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_19249 5 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000232055.2
1994 chr18 29126558 29126558 1 + C T rs149617776 29126567 + 29126547 29126587 41 AAATTCTATGACGGCTAGGAACACCACGGTGTCTGGAGCTG AAATTCTATGATGGCTAGGAACACCACGGTGTCTGGAGCTG < 41bp 1 0.612137597968145 1 0.0133771598339081 experiment 0.775724804063711 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126567 chr18:29126558 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_19249 5 Uncertain significance Cardiomyopathy, ARVC RCV000331727.1
1995 chr18 29126558 29126558 1 + C T rs149617776 29126567 + 29126547 29126587 41 AAATTCTATGACGGCTAGGAACACCACGGTGTCTGGAGCTG AAATTCTATGATGGCTAGGAACACCACGGTGTCTGGAGCTG < 41bp 1 0.612137597968145 1 0.0133771598339081 experiment 0.775724804063711 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 12 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126567 chr18:29126558 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_19249 5 Uncertain significance Dilated Cardiomyopathy, Dominant RCV000370010.1
1996 chr18 32374062 32374062 1 + G A rs117571555 32374070 + 32374050 32374090 41 TCTGAACAACCTGGACCCAAACACTGAACTCAACGTGTCCC TCTGAACAACCTAGACCCAAACACTGAACTCAACGTGTCCC < 41bp 1 0.558720099661581 1 0.346041172742844 experiment 0.882559800676839 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 DTNA ENSG00000134769 CDS Human protein_coding chr18:32374070 chr18:32374062 synonymous SNV . 0 hm6A_associated_SNPs_19255 4 Benign Cardiomyopathy RCV000029689.3
1997 chr18 32374062 32374062 1 + G A rs117571555 32374070 + 32374050 32374090 41 TCTGAACAACCTGGACCCAAACACTGAACTCAACGTGTCCC TCTGAACAACCTAGACCCAAACACTGAACTCAACGTGTCCC < 41bp 1 0.558720099661581 1 0.346041172742844 experiment 0.882559800676839 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 DTNA ENSG00000134769 CDS Human protein_coding chr18:32374070 chr18:32374062 synonymous SNV . 0 hm6A_associated_SNPs_19255 4 Benign not specified RCV000039681.2
1998 chr18 32374062 32374062 1 + G A rs117571555 32374070 + 32374050 32374090 41 TCTGAACAACCTGGACCCAAACACTGAACTCAACGTGTCCC TCTGAACAACCTAGACCCAAACACTGAACTCAACGTGTCCC < 41bp 1 0.558720099661581 1 0.346041172742844 experiment 0.882559800676839 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 DTNA ENSG00000134769 CDS Human protein_coding chr18:32374070 chr18:32374062 synonymous SNV . 0 hm6A_associated_SNPs_19255 4 Benign Left ventricular noncompaction 1 RCV000233465.2
1999 chr18 32374062 32374062 1 + G A rs117571555 32374070 + 32374050 32374090 41 TCTGAACAACCTGGACCCAAACACTGAACTCAACGTGTCCC TCTGAACAACCTAGACCCAAACACTGAACTCAACGTGTCCC < 41bp 1 0.558720099661581 1 0.346041172742844 experiment 0.882559800676839 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 DTNA ENSG00000134769 CDS Human protein_coding chr18:32374070 chr18:32374062 synonymous SNV . 0 hm6A_associated_SNPs_19255 4 Likely benign Left ventricular noncompaction cardiomyopathy RCV000402611.1
2000 chr18 48573518 48573518 1 + A G rs146104321 48573516 + 48573496 48573536 41 GACAAGGTGGAGAGAGTGAAACATTTGCAAAAAGAGCAATT GACAAGGTGGAGAGAGTGAAACGTTTGCAAAAAGAGCAATT Direct Loss 1 0.664804266555837 1 0.966134548187256 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 23 SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48573516 chr18:48573518 synonymous SNV . 0 hm6A_associated_SNPs_19300 3 Likely benign Hereditary cancer-predisposing syndrome RCV000162365.1
2001 chr18 48573518 48573518 1 + A G rs146104321 48573516 + 48573496 48573536 41 GACAAGGTGGAGAGAGTGAAACATTTGCAAAAAGAGCAATT GACAAGGTGGAGAGAGTGAAACGTTTGCAAAAAGAGCAATT Direct Loss 1 0.664804266555837 1 0.966134548187256 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 23 SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48573516 chr18:48573518 synonymous SNV . 0 hm6A_associated_SNPs_19300 3 other Juvenile polyposis syndrome RCV000409431.1
2002 chr18 48573518 48573518 1 + A G rs146104321 48573516 + 48573496 48573536 41 GACAAGGTGGAGAGAGTGAAACATTTGCAAAAAGAGCAATT GACAAGGTGGAGAGAGTGAAACGTTTGCAAAAAGAGCAATT Direct Loss 1 0.664804266555837 1 0.966134548187256 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 23 SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48573516 chr18:48573518 synonymous SNV . 0 hm6A_associated_SNPs_19300 3 Benign not specified RCV000438148.1
2003 chr18 48604849 48604849 1 + G A rs148687037 48604862 + 48604842 48604882 41 TTTTACCGTTGGGGCCCTTAACCTTATCAGGATGGTGGACT TTTTACCATTGGGGCCCTTAACCTTATCAGGATGGTGGACT < 41bp 1 0.326384398109993 1 0.972320795059204 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 8 SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48604862 chr18:48604849 . . 0 hm6A_associated_SNPs_19302 1 Likely benign not specified RCV000443565.1
2004 chr18 48605522 48605522 1 + A C rs16952798 48605517 + 48605497 48605537 41 GAATCCCTTAAAATTACCAGACAAAAAAATTTAAAATTACG GAATCCCTTAAAATTACCAGACAAACAAATTTAAAATTACG < 41bp 1 0.376167804816019 1 0.760698556900024 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 26 SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48605517 chr18:48605522 . . 0 hm6A_associated_SNPs_19305 3 Benign Myhre syndrome RCV000312370.1
2005 chr18 48605522 48605522 1 + A C rs16952798 48605517 + 48605497 48605537 41 GAATCCCTTAAAATTACCAGACAAAAAAATTTAAAATTACG GAATCCCTTAAAATTACCAGACAAACAAATTTAAAATTACG < 41bp 1 0.376167804816019 1 0.760698556900024 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 26 SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48605517 chr18:48605522 . . 0 hm6A_associated_SNPs_19305 3 Benign Osler hemorrhagic telangiectasia syndrome RCV000364755.1
2006 chr18 48605522 48605522 1 + A C rs16952798 48605517 + 48605497 48605537 41 GAATCCCTTAAAATTACCAGACAAAAAAATTTAAAATTACG GAATCCCTTAAAATTACCAGACAAACAAATTTAAAATTACG < 41bp 1 0.376167804816019 1 0.760698556900024 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 26 SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48605517 chr18:48605522 . . 0 hm6A_associated_SNPs_19305 3 Benign Juvenile Polyposis RCV000391859.1
2007 chr18 48606016 48606016 1 + T C rs10470 48606034 + 48606014 48606054 41 GATCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAG GACCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAG < 41bp 1 0.404449440627807 1 0.908594846725464 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 3 SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48606034 chr18:48606016 . . 0 hm6A_associated_SNPs_19307 3 Likely benign Myhre syndrome RCV000304965.1
2008 chr18 48606016 48606016 1 + T C rs10470 48606034 + 48606014 48606054 41 GATCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAG GACCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAG < 41bp 1 0.404449440627807 1 0.908594846725464 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 3 SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48606034 chr18:48606016 . . 0 hm6A_associated_SNPs_19307 3 Likely benign Juvenile Polyposis RCV000343583.1
2009 chr18 48606016 48606016 1 + T C rs10470 48606034 + 48606014 48606054 41 GATCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAG GACCATATCAATTGGCAGTGACTTTGTATAGAGAATTTAAG < 41bp 1 0.404449440627807 1 0.908594846725464 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 3 SMAD4 ENSG00000141646 UTR3 Human protein_coding chr18:48606034 chr18:48606016 . . 0 hm6A_associated_SNPs_19307 3 Likely benign Osler hemorrhagic telangiectasia syndrome RCV000400004.1
2010 chr18 56058768 56058768 1 + G A rs115364125 56058771 + 56058751 56058791 41 CAATGGGGCAGTCCTGAGAAACTGCCCAGAGCTCACACATG CAATGGGGCAGTCCTGAAAAACTGCCCAGAGCTCACACATG < 41bp 1 0.066060459850429 1 0.0637826323509216 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 18 NEDD4L ENSG00000049759 CDS Human protein_coding chr18:56058771 chr18:56058768 synonymous SNV . 0 hm6A_associated_SNPs_19326 1 Benign not specified RCV000465689.1
2011 chr18 72343156 72343156 1 + A G rs75994611 72343148 + 72343128 72343168 41 AGGTTTTTCAGAATCATCGAACTCTGATAGTGTTGTTATAG AGGTTTTTCAGAATCATCGAACTCTGATGGTGTTGTTATAG < 41bp 1 0.484928239987486 1 0.958504259586334 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 29 ZNF407 ENSG00000215421 CDS Human protein_coding chr18:72343148 chr18:72343156 nonsynonymous SNV 0.041 0 hm6A_associated_SNPs_19359 1 other not specified RCV000118934.2
2012 chr18 72344509 72344509 1 + G A rs7227263 72344524 + 72344504 72344544 41 ACTCCGGGCTGCATTCCCTGACAGTGAAGCCAGCTTCTGGC ACTCCAGGCTGCATTCCCTGACAGTGAAGCCAGCTTCTGGC < 41bp 1 0.677446553299645 1 0.877600312232971 experiment 0.645106893400711 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 6 ZNF407 ENSG00000215421 CDS Human protein_coding chr18:72344524 chr18:72344509 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_19360 1 Likely benign not specified RCV000118932.2
2013 chr18 72347482 72347482 1 + T C rs12327359 72347496 + 72347476 72347516 41 TTATTTTTACATATTAAAGGACAGCATGAGGAATTGCTGCG TTATTTCTACATATTAAAGGACAGCATGAGGAATTGCTGCG < 41bp 1 0.730192335844643 1 0.97431093454361 experiment 0.539615328310713 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 7 ZNF407 ENSG00000215421 CDS Human protein_coding chr18:72347496 chr18:72347482 synonymous SNV . 0 hm6A_associated_SNPs_19361 1 other not specified RCV000118940.3
2014 chr18 72923188 72923188 1 + C A rs181312859 72923180 + 72923160 72923200 41 GGAAGGTGGAGCAGCGCCTGACATCTCCCCCCGGCGCATGT GGAAGGTGGAGCAGCGCCTGACATCTCCACCCGGCGCATGT < 41bp 1 0.765380246373493 1 0.951147437095642 experiment 0.469239507253014 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 29 TSHZ1 ENSG00000179981 UTR5 Human protein_coding chr18:72923180 chr18:72923188 . . 0 hm6A_associated_SNPs_19363 1 Likely benign Aural atresia, congenital RCV000304546.1
2015 chr18 72998211 72998211 1 + C G rs140283079 72998209 + 72998189 72998229 41 GGGACAAGGACTCCGAGAAGACCAAGAGGTGGTCCAAGCCC GGGACAAGGACTCCGAGAAGACGAAGAGGTGGTCCAAGCCC Direct Loss 1 0.761407414108508 1 0.999988794326782 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72998209 chr18:72998211 synonymous SNV . 0 hm6A_associated_SNPs_19364 1 Likely benign Aural atresia, congenital RCV000348010.1
2016 chr18 72998427 72998427 1 + G A rs147846116 72998435 + 72998415 72998455 41 CAAAAAGCGGGCGCTTCAGGACCTGGCGCCCCCCTGCTCCC CAAAAAGCGGGCACTTCAGGACCTGGCGCCCCCCTGCTCCC < 41bp 1 0.797627740468362 1 0.999947845935822 experiment 0.404744519063277 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 13 TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72998435 chr18:72998427 synonymous SNV . 0 hm6A_associated_SNPs_19365 1 Likely benign Aural atresia, congenital RCV000362790.1
2017 chr18 72999563 72999563 1 + T C rs113033195 72999545 + 72999525 72999565 41 AAAGGTCACCAACGGCTGTAACAACCTGGGGATCATCATGG AAAGGTCACCAACGGCTGTAACAACCTGGGGATCATCACGG < 41bp 1 0.743227428349564 1 0.999705255031586 experiment 0.513545143300872 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72999545 chr18:72999563 nonsynonymous SNV 0.193 0 hm6A_associated_SNPs_19366 1 Likely benign Aural atresia, congenital RCV000354796.1
2018 chr19 855966 855966 1 + C A rs17216649 855962 + 855942 855982 41 TTGTCTGCCTCCACAGGGGGACTCCGGCAGCCCCTTGGTCT TTGTCTGCCTCCACAGGGGGACTCAGGCAGCCCCTTGGTCT < 41bp 1 0.189208011532704 1 0.959811508655548 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 25 ELANE ENSG00000197561 CDS Human protein_coding chr19:855962 chr19:855966 synonymous SNV . 0 hm6A_associated_SNPs_19462 1 Benign not specified RCV000247387.1
2019 chr19 856130 856130 1 + C T rs17216663 856136 + 856116 856156 41 CCCCTGTCCCCACCCCCGGGACCCGGACCCGGCCAGCAGGA CCCCTGTCCCCACCTCCGGGACCCGGACCCGGCCAGCAGGA < 41bp 1 0.29443789458102 1 0.977200984954834 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 15 ELANE ENSG00000197561 CDS Human protein_coding chr19:856136 chr19:856130 nonsynonymous SNV 0.019 2 hm6A_associated_SNPs_19463 2 Benign not specified RCV000243329.1
2020 chr19 856130 856130 1 + C T rs17216663 856136 + 856116 856156 41 CCCCTGTCCCCACCCCCGGGACCCGGACCCGGCCAGCAGGA CCCCTGTCCCCACCTCCGGGACCCGGACCCGGCCAGCAGGA < 41bp 1 0.29443789458102 1 0.977200984954834 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 15 ELANE ENSG00000197561 CDS Human protein_coding chr19:856136 chr19:856130 nonsynonymous SNV 0.019 2 hm6A_associated_SNPs_19463 2 Likely benign not provided RCV000444348.1
2021 chr19 856145 856145 1 + C T rs17216670 856136 + 856116 856156 41 CCCCTGTCCCCACCCCCGGGACCCGGACCCGGCCAGCAGGA CCCCTGTCCCCACCCCCGGGACCCGGACCTGGCCAGCAGGA < 41bp 1 0.279765994665253 1 0.98075532913208 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 30 ELANE ENSG00000197561 CDS Human protein_coding chr19:856136 chr19:856145 nonsynonymous SNV 0.000 2 hm6A_associated_SNPs_19464 1 other not specified RCV000124881.3
2022 chr19 1206351 1206351 1 + G C rs187649480 1206368 + 1206348 1206388 41 GCGGAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCG GCGCAGCGTTTGCTCCTGGGACAGGCGGTGGGACCGGGGCG < 41bp 1 0.421582459236921 1 0.95866858959198 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 4 STK11 ENSG00000118046 UTR5 Human protein_coding chr19:1206368 chr19:1206351 . . 0 hm6A_associated_SNPs_19483 1 Likely benign Peutz-Jeghers syndrome RCV000403889.1
2023 chr19 1206639 1206639 1 + C T rs372994361 1206647 + 1206627 1206667 41 GAGGCCCGGGTCCCACTGGAACTCGCGTCTGAGCCGCCGTC GAGGCCCGGGTCTCACTGGAACTCGCGTCTGAGCCGCCGTC < 41bp 1 0.273202739638325 1 0.985292792320251 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 STK11 ENSG00000118046 UTR5 Human protein_coding chr19:1206647 chr19:1206639 . . 0 hm6A_associated_SNPs_19485 1 Likely benign Peutz-Jeghers syndrome RCV000360824.1
2024 chr19 1223033 1223033 1 + C G rs549474196 1223043 + 1223023 1223063 41 GCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCA GCCCATCCCAGCGAGCCCAGACACCAAGGACCGGTGGCGCA < 41bp 1 0.724994426971313 1 0.998770594596863 experiment 0.550011146057374 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223043 chr19:1223033 nonsynonymous SNV 0.006 2 hm6A_associated_SNPs_19486 3 Likely benign Hereditary cancer-predisposing syndrome RCV000115606.7
2025 chr19 1223033 1223033 1 + C G rs549474196 1223043 + 1223023 1223063 41 GCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCA GCCCATCCCAGCGAGCCCAGACACCAAGGACCGGTGGCGCA < 41bp 1 0.724994426971313 1 0.998770594596863 experiment 0.550011146057374 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223043 chr19:1223033 nonsynonymous SNV 0.006 2 hm6A_associated_SNPs_19486 3 Uncertain significance Peutz-Jeghers syndrome RCV000168083.5
2026 chr19 1223033 1223033 1 + C G rs549474196 1223043 + 1223023 1223063 41 GCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCA GCCCATCCCAGCGAGCCCAGACACCAAGGACCGGTGGCGCA < 41bp 1 0.724994426971313 1 0.998770594596863 experiment 0.550011146057374 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223043 chr19:1223033 nonsynonymous SNV 0.006 2 hm6A_associated_SNPs_19486 3 Uncertain significance not specified RCV000213028.3
2027 chr19 1223125 1223125 1 + C G rs59912467 1223118 + 1223098 1223138 41 CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATG CGGCGCGGACGAGGACGAGGACCTCTTGGACATCGAGGATG < 41bp 1 0.347497903497495 1 0.998537063598633 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 28 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223118 chr19:1223125 nonsynonymous SNV 0.005 0 hm6A_associated_SNPs_19487 3 other Peutz-Jeghers syndrome RCV000007887.10
2028 chr19 1223125 1223125 1 + C G rs59912467 1223118 + 1223098 1223138 41 CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATG CGGCGCGGACGAGGACGAGGACCTCTTGGACATCGAGGATG < 41bp 1 0.347497903497495 1 0.998537063598633 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 28 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223118 chr19:1223125 nonsynonymous SNV 0.005 0 hm6A_associated_SNPs_19487 3 Benign Hereditary cancer-predisposing syndrome RCV000115593.6
2029 chr19 1223125 1223125 1 + C G rs59912467 1223118 + 1223098 1223138 41 CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATG CGGCGCGGACGAGGACGAGGACCTCTTGGACATCGAGGATG < 41bp 1 0.347497903497495 1 0.998537063598633 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 28 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223118 chr19:1223125 nonsynonymous SNV 0.005 0 hm6A_associated_SNPs_19487 3 other not specified RCV000122091.3
2030 chr19 1912900 1912900 1 + A C rs146212621 1912895 + 1912875 1912915 41 CGCGCAGGCGCCGTGCGTAAACTGGACGCAGACGAGGACGG CGCGCAGGCGCCGTGCGTAAACTGGCCGCAGACGAGGACGG < 41bp 1 0.721948458089737 1 0.997469067573547 experiment 0.556103083820526 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 ADAT3 ENSG00000213638 CDS Human protein_coding chr19:1912895 chr19:1912900 nonsynonymous SNV 0.306 0 hm6A_associated_SNPs_19525 1 Likely benign not specified RCV000499886.1
2031 chr19 3925825 3925825 1 + T C rs148116098 3925807 + 3925787 3925827 41 CTGAGGTGAGGAGTTTGAGAACAGCCTGGCCAACATGGTGA CTGAGGTGAGGAGTTTGAGAACAGCCTGGCCAACATGGCGA < 41bp 1 0.0909712814104656 1 0.00320419669151306 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 39 MIR1268A ENSG00000167654 UTR3 Human protein_coding chr19:3925807 chr19:3925825 . . 0 hm6A_associated_SNPs_19638 1 Likely benign Cerebellar ataxia, cayman type RCV000273112.1
2032 chr19 7626134 7626134 1 + C T rs34030828 7626114 + 7626094 7626134 41 GAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCC GAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCT < 41bp 1 0.509593471365672 1 0.351105093955994 experiment 0.980813057268655 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 41 PNPLA6 ENSG00000032444 CDS Human protein_coding chr19:7626114 chr19:7626134 synonymous SNV . 0 hm6A_associated_SNPs_19704 2 Likely benign not specified RCV000422260.1
2033 chr19 7626134 7626134 1 + C T rs34030828 7626114 + 7626094 7626134 41 GAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCC GAGAGGAGTCAGATTGTCTGACAGAGTATGAGGAGGACGCT < 41bp 1 0.509593471365672 1 0.351105093955994 experiment 0.980813057268655 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 41 PNPLA6 ENSG00000032444 CDS Human protein_coding chr19:7626114 chr19:7626134 synonymous SNV . 0 hm6A_associated_SNPs_19704 2 Benign Spastic paraplegia 39 RCV000457238.1
2034 chr19 10940995 10940995 1 + G A rs114682382 10940979 + 10940959 10940999 41 GAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTC GAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCACCTC < 41bp 1 0.306128444184708 1 0.236311286687851 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 37 DNM2 ENSG00000079805 CDS Human protein_coding chr19:10940979 chr19:10940995 synonymous SNV . 0 hm6A_associated_SNPs_19800 2 Benign not specified RCV000145918.3
2035 chr19 10940995 10940995 1 + G A rs114682382 10940979 + 10940959 10940999 41 GAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCGCCTC GAGCGTGTTTGCCAACAGTGACCTCTTCCCAGCCCCACCTC < 41bp 1 0.306128444184708 1 0.236311286687851 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 37 DNM2 ENSG00000079805 CDS Human protein_coding chr19:10940979 chr19:10940995 synonymous SNV . 0 hm6A_associated_SNPs_19800 2 Benign DNM2-related intermediate Charcot-Marie-Tooth neuropathy RCV000470113.1
2036 chr19 11135099 11135099 1 + C T rs149111403 11135107 + 11135087 11135127 41 GACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAG GACTGATGGCTCTGAGAAGGACAAGAAGGTGGGCCCCAGAG < 41bp 1 0.462920459465007 1 0.925150394439697 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11135107 chr19:11135099 synonymous SNV . 0 hm6A_associated_SNPs_19814 2 Benign Rhabdoid tumor predisposition syndrome 2 RCV000225852.2
2037 chr19 11135099 11135099 1 + C T rs149111403 11135107 + 11135087 11135127 41 GACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAG GACTGATGGCTCTGAGAAGGACAAGAAGGTGGGCCCCAGAG < 41bp 1 0.462920459465007 1 0.925150394439697 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 13 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11135107 chr19:11135099 synonymous SNV . 0 hm6A_associated_SNPs_19814 2 Likely benign Coffin-Siris syndrome RCV000317561.1
2038 chr19 11152039 11152039 1 + A G rs61761958 11152059 + 11152039 11152079 41 ATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA GTCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA < 41bp 1 0.620106225586906 1 0.99885368347168 experiment 0.759787548826187 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 1 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152059 chr19:11152039 synonymous SNV . 0 hm6A_associated_SNPs_19815 1 Benign Rhabdoid tumor predisposition syndrome 2 RCV000227439.2
2039 chr19 11170839 11170839 1 + T C rs7275 11170854 + 11170834 11170874 41 GACGATGACAGTGAGGAGGAACAAGAGGAGGTGAGGCCGGG GACGACGACAGTGAGGAGGAACAAGAGGAGGTGAGGCCGGG < 41bp 1 0.626917782920725 1 0.938483595848083 experiment 0.746164434158549 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 6 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11170854 chr19:11170839 synonymous SNV . 0 hm6A_associated_SNPs_19816 2 Benign not specified RCV000114308.3
2040 chr19 11170839 11170839 1 + T C rs7275 11170854 + 11170834 11170874 41 GACGATGACAGTGAGGAGGAACAAGAGGAGGTGAGGCCGGG GACGACGACAGTGAGGAGGAACAAGAGGAGGTGAGGCCGGG < 41bp 1 0.626917782920725 1 0.938483595848083 experiment 0.746164434158549 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 6 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11170854 chr19:11170839 synonymous SNV . 0 hm6A_associated_SNPs_19816 2 Benign Coffin-Siris syndrome RCV000287003.1
2041 chr19 11224265 11224265 1 + A G rs5930 11224267 + 11224247 11224287 41 TGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGC TGACACCGTCATCAGCAGGGACATCCAGGCCCCCGACGGGC < 41bp 1 0.556673106488006 1 0.997603178024292 experiment 0.886653787023987 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 19 LDLR ENSG00000130164 CDS Human protein_coding chr19:11224267 chr19:11224265 synonymous SNV . 0 hm6A_associated_SNPs_19817 2 Benign not specified RCV000182337.4
2042 chr19 11224265 11224265 1 + A G rs5930 11224267 + 11224247 11224287 41 TGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGC TGACACCGTCATCAGCAGGGACATCCAGGCCCCCGACGGGC < 41bp 1 0.556673106488006 1 0.997603178024292 experiment 0.886653787023987 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 19 LDLR ENSG00000130164 CDS Human protein_coding chr19:11224267 chr19:11224265 synonymous SNV . 0 hm6A_associated_SNPs_19817 2 other Familial hypercholesterolemia RCV000237328.3
2043 chr19 11227554 11227554 1 + C T rs1799898 11227572 + 11227552 11227592 41 CTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCAT CTTTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCAT < 41bp 1 0.197591118555998 1 0.138445138931274 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 3 LDLR ENSG00000130164 CDS Human protein_coding chr19:11227572 chr19:11227554 synonymous SNV . 0 hm6A_associated_SNPs_19818 2 other Familial hypercholesterolemia RCV000238053.3
2044 chr19 11227554 11227554 1 + C T rs1799898 11227572 + 11227552 11227592 41 CTCTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCAT CTTTACTGGGTTGACTCCAAACTTCACTCCATCTCAAGCAT < 41bp 1 0.197591118555998 1 0.138445138931274 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 3 LDLR ENSG00000130164 CDS Human protein_coding chr19:11227572 chr19:11227554 synonymous SNV . 0 hm6A_associated_SNPs_19818 2 Benign not specified RCV000247994.2
2045 chr19 11233941 11233941 1 + A G rs5927 11233921 + 11233901 11233941 41 TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGA TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGG < 41bp 1 0.380720649336869 1 0.31839382648468 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 41 LDLR ENSG00000130164 CDS Human protein_coding chr19:11233921 chr19:11233941 synonymous SNV . 0 hm6A_associated_SNPs_19819 2 other Familial hypercholesterolemia RCV000238103.3
2046 chr19 11233941 11233941 1 + A G rs5927 11233921 + 11233901 11233941 41 TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGA TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGG < 41bp 1 0.380720649336869 1 0.31839382648468 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 41 LDLR ENSG00000130164 CDS Human protein_coding chr19:11233921 chr19:11233941 synonymous SNV . 0 hm6A_associated_SNPs_19819 2 Benign not specified RCV000252146.2
2047 chr19 11240240 11240240 1 + G A rs5928 11240249 + 11240229 11240269 41 GAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTG GAAGAACTGGCAGCTTAAGAACATCAACAGCATCAACTTTG < 41bp 1 0.741358022814309 1 0.906361043453217 experiment 0.517283954371382 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 12 LDLR ENSG00000130164 CDS Human protein_coding chr19:11240249 chr19:11240240 nonsynonymous SNV 0.731 4 hm6A_associated_SNPs_19820 3 Uncertain significance Hypercholesterolaemia RCV000148584.1
2048 chr19 11240240 11240240 1 + G A rs5928 11240249 + 11240229 11240269 41 GAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTG GAAGAACTGGCAGCTTAAGAACATCAACAGCATCAACTTTG < 41bp 1 0.741358022814309 1 0.906361043453217 experiment 0.517283954371382 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 12 LDLR ENSG00000130164 CDS Human protein_coding chr19:11240249 chr19:11240240 nonsynonymous SNV 0.731 4 hm6A_associated_SNPs_19820 3 not provided not provided RCV000162024.1
2049 chr19 11240240 11240240 1 + G A rs5928 11240249 + 11240229 11240269 41 GAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTG GAAGAACTGGCAGCTTAAGAACATCAACAGCATCAACTTTG < 41bp 1 0.741358022814309 1 0.906361043453217 experiment 0.517283954371382 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 12 LDLR ENSG00000130164 CDS Human protein_coding chr19:11240249 chr19:11240240 nonsynonymous SNV 0.731 4 hm6A_associated_SNPs_19820 3 other Familial hypercholesterolemia RCV000237126.2
2050 chr19 11242765 11242765 1 + A G rs2738466 11242748 + 11242728 11242768 41 ACCCAGGTGTGGCTGTCAGGACACCAGCCTGGTGCCCATCC ACCCAGGTGTGGCTGTCAGGACACCAGCCTGGTGCCCGTCC < 41bp 1 0.585970832392472 1 0.830039024353027 experiment 0.828058335215056 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 38 LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11242748 chr19:11242765 . . 0 hm6A_associated_SNPs_19823 1 Likely benign Familial hypercholesterolemia RCV000288127.1
2051 chr19 11242974 11242974 1 + G C rs10409044 11242955 + 11242935 11242975 41 GGACAGAGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTGA GGACAGAGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTCA < 41bp 1 0.264036520502714 1 0.722953200340271 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 40 LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11242955 chr19:11242974 . . 0 hm6A_associated_SNPs_19827 1 Likely benign Familial hypercholesterolemia RCV000395133.1
2052 chr19 11242974 11242974 1 + G C rs10409044 11242961 + 11242941 11242981 41 AGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTGATCGTGA AGAGGGGCAGGTTGACCGGGACTTCAAAGCCGTCATCGTGA < 41bp 1 0.667961483541318 1 0.808292150497437 experiment 0.664077032917364 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 34 LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11242961 chr19:11242974 . . 0 hm6A_associated_SNPs_19828 1 Likely benign Familial hypercholesterolemia RCV000395133.1
2053 chr19 11242974 11242974 1 + G C rs10409044 11242991 + 11242971 11243011 41 CGTGATCGTGAATATCGAGAACTGCCATTGTCGTCTTTATG CGTCATCGTGAATATCGAGAACTGCCATTGTCGTCTTTATG < 41bp 1 0.634597610451132 1 0.711843729019165 experiment 0.730804779097736 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 4 LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11242991 chr19:11242974 . . 0 hm6A_associated_SNPs_19829 1 Likely benign Familial hypercholesterolemia RCV000395133.1
2054 chr19 11242986 11242986 1 + C T rs189408873 11242991 + 11242971 11243011 41 CGTGATCGTGAATATCGAGAACTGCCATTGTCGTCTTTATG CGTGATCGTGAATATTGAGAACTGCCATTGTCGTCTTTATG < 41bp 1 0.60378988794385 1 0.637227296829224 experiment 0.7924202241123 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 16 LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11242991 chr19:11242986 . . 0 hm6A_associated_SNPs_19830 1 Uncertain significance Familial hypercholesterolemia RCV000313295.1
2055 chr19 11244008 11244008 1 + G A rs72658879 11243988 + 11243968 11244008 41 TGATGTCCGGAGAGACAGTGACAGCCTCCGTCAGACTCCCG TGATGTCCGGAGAGACAGTGACAGCCTCCGTCAGACTCCCA < 41bp 1 0.514666624036038 1 0.577874600887299 experiment 0.970666751927924 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 41 LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11243988 chr19:11244008 . . 0 hm6A_associated_SNPs_19831 1 Likely benign Familial hypercholesterolemia RCV000402884.1
2056 chr19 11244008 11244008 1 + G A rs72658879 11244002 + 11243982 11244022 41 ACAGTGACAGCCTCCGTCAGACTCCCGCGTGAAGATGTCAC ACAGTGACAGCCTCCGTCAGACTCCCACGTGAAGATGTCAC < 41bp 1 0.428838948637323 1 0.702137649059296 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 27 LDLR ENSG00000130164 UTR3 Human protein_coding chr19:11244002 chr19:11244008 . . 0 hm6A_associated_SNPs_19832 1 Likely benign Familial hypercholesterolemia RCV000402884.1
2057 chr19 11546462 11546462 1 + G A rs138496627 11546471 + 11546451 11546491 41 GCTTTCTTTCTGCAGCAGGAACCGCGGCTGCTGGACAAGAG GCTTTCTTTCTACAGCAGGAACCGCGGCTGCTGGACAAGAG < 41bp 1 0.11079915762534 1 0.8568115234375 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 12 PRKCSH ENSG00000130175 UTR5 Human protein_coding chr19:11546471 chr19:11546462 . . 0 hm6A_associated_SNPs_19835 1 Likely benign Polycystic liver disease RCV000361395.1
2058 chr19 11546475 11546475 1 + C T rs45450094 11546471 + 11546451 11546491 41 GCTTTCTTTCTGCAGCAGGAACCGCGGCTGCTGGACAAGAG GCTTTCTTTCTGCAGCAGGAACCGTGGCTGCTGGACAAGAG < 41bp 1 0.140255638798754 1 0.885746359825134 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 25 PRKCSH ENSG00000130175 UTR5 Human protein_coding chr19:11546471 chr19:11546475 . . 0 hm6A_associated_SNPs_19836 1 Likely benign Polycystic liver disease RCV000266677.1
2059 chr19 11546475 11546475 1 + C T rs45450094 11546485 + 11546465 11546505 41 GCAGGAACCGCGGCTGCTGGACAAGAGGGGTGCGGTGGATA GCAGGAACCGTGGCTGCTGGACAAGAGGGGTGCGGTGGATA < 41bp 1 0.182359697727099 1 0.948546886444092 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 11 PRKCSH ENSG00000130175 UTR5 Human protein_coding chr19:11546485 chr19:11546475 . . 0 hm6A_associated_SNPs_19837 1 Likely benign Polycystic liver disease RCV000266677.1
2060 chr19 11558275 11558275 1 + G A rs11557488 11558291 + 11558271 11558311 41 TCCAGCACCTTCTGCCCCTGACTTGACGGAGCCCAAGGAGG TCCAACACCTTCTGCCCCTGACTTGACGGAGCCCAAGGAGG < 41bp 1 0.281470797973485 1 0.998124480247498 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 5 PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11558291 chr19:11558275 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_19842 2 Benign not specified RCV000080027.6
2061 chr19 11558275 11558275 1 + G A rs11557488 11558291 + 11558271 11558311 41 TCCAGCACCTTCTGCCCCTGACTTGACGGAGCCCAAGGAGG TCCAACACCTTCTGCCCCTGACTTGACGGAGCCCAAGGAGG < 41bp 1 0.281470797973485 1 0.998124480247498 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 5 PRKCSH ENSG00000130175 CDS Human protein_coding chr19:11558291 chr19:11558275 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_19842 2 Benign Polycystic liver disease RCV000381668.1
2062 chr19 12920935 12920935 1 + G A rs7257575 12920915 + 12920895 12920935 41 ACACCGTAGGGATGCCAGAGACATACCAGGCGCGGCTGCAG ACACCGTAGGGATGCCAGAGACATACCAGGCGCGGCTGCAA < 41bp 1 0.605415151325821 1 0.361206352710724 experiment 0.789169697348358 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 41 RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12920915 chr19:12920935 synonymous SNV . 0 hm6A_associated_SNPs_19863 2 Benign not specified RCV000249194.1
2063 chr19 12920935 12920935 1 + G A rs7257575 12920915 + 12920895 12920935 41 ACACCGTAGGGATGCCAGAGACATACCAGGCGCGGCTGCAG ACACCGTAGGGATGCCAGAGACATACCAGGCGCGGCTGCAA < 41bp 1 0.605415151325821 1 0.361206352710724 experiment 0.789169697348358 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 41 RNASEH2A ENSG00000104889 CDS Human protein_coding chr19:12920915 chr19:12920935 synonymous SNV . 0 hm6A_associated_SNPs_19863 2 Likely benign Aicardi Goutieres syndrome RCV000312771.1
2064 chr19 14037648 14037648 1 + A G rs73925404 14037650 + 14037630 14037670 41 ATAGGAAGAAGCTCAGAAAGACAAGACCAGTGTGATCAAGA ATAGGAAGAAGCTCAGAAGGACAAGACCAGTGTGATCAAGA < 41bp 1 0.714448308610746 1 0.970797657966614 experiment 0.571103382778508 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 19 CC2D1A ENSG00000132024 CDS Human protein_coding chr19:14037650 chr19:14037648 synonymous SNV . 0 hm6A_associated_SNPs_19880 1 Benign not specified RCV000502449.1
2065 chr19 19627092 19627092 1 + C A rs183288709 19627073 + 19627053 19627093 41 GGCGTCAAAGGTGAAGCAGGACATGCCTCCGCCGGGGGGCT GGCGTCAAAGGTGAAGCAGGACATGCCTCCGCCGGGGGGAT < 41bp 1 0.725621127350442 1 0.982597708702087 experiment 0.548757745299115 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 40 NDUFA13 ENSG00000186010;ENSG00000250067;ENSG00000258674 CDS Human other chr19:19627073 chr19:19627092 synonymous SNV . 0 hm6A_associated_SNPs_20107 1 Uncertain significance not specified RCV000299323.1
2066 chr19 36486509 36486509 1 + C G rs76336581 36486524 + 36486504 36486544 41 ACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCG ACCCGGCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCG < 41bp 1 0.473222317864086 1 0.987428784370422 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 6 SDHAF1 ENSG00000205138 CDS Human protein_coding chr19:36486524 chr19:36486509 synonymous SNV . 0 hm6A_associated_SNPs_20247 2 Benign not specified RCV000173197.3
2067 chr19 36486509 36486509 1 + C G rs76336581 36486524 + 36486504 36486544 41 ACCCGCCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCG ACCCGGCCCGACGGACGGTGACAGGCGAAGAGCCGAACTCG < 41bp 1 0.473222317864086 1 0.987428784370422 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 6 SDHAF1 ENSG00000205138 CDS Human protein_coding chr19:36486524 chr19:36486509 synonymous SNV . 0 hm6A_associated_SNPs_20247 2 Likely benign Mitochondrial complex II deficiency RCV000403258.1
2068 chr19 36487146 36487146 1 + A G rs7925 36487153 + 36487133 36487173 41 GGTTTTGAGGGGCAACATTGACTCATTTGCCCCTTCCCTCT GGTTTTGAGGGGCGACATTGACTCATTTGCCCCTTCCCTCT < 41bp 1 0.698793891148408 1 0.910932183265686 experiment 0.602412217703183 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 14 SDHAF1 ENSG00000205138 UTR3 Human protein_coding chr19:36487153 chr19:36487146 . . 0 hm6A_associated_SNPs_20251 1 Likely benign Mitochondrial complex II deficiency RCV000261418.1
2069 chr19 36572460 36572460 1 + C T rs148667984 36572459 + 36572439 36572479 41 TGATTCTCACTGGCAGAAAAACATCTTCAGCAATGTGAGTG TGATTCTCACTGGCAGAAAAATATCTTCAGCAATGTGAGTG Direct Loss 1 0.266733423867616 1 0.402178108692169 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 WDR62 ENSG00000075702 CDS Human protein_coding chr19:36572459 chr19:36572460 synonymous SNV . 0 hm6A_associated_SNPs_20252 2 Uncertain significance not specified RCV000193171.1
2070 chr19 36572460 36572460 1 + C T rs148667984 36572459 + 36572439 36572479 41 TGATTCTCACTGGCAGAAAAACATCTTCAGCAATGTGAGTG TGATTCTCACTGGCAGAAAAATATCTTCAGCAATGTGAGTG Direct Loss 1 0.266733423867616 1 0.402178108692169 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 WDR62 ENSG00000075702 CDS Human protein_coding chr19:36572459 chr19:36572460 synonymous SNV . 0 hm6A_associated_SNPs_20252 2 Uncertain significance Primary Microcephaly 2 With or Without Cortical Malformations RCV000404359.1
2071 chr19 36583692 36583692 1 + A G rs61747277 36583689 + 36583669 36583709 41 GCAGCAGCAGCACACAAATGACAAGAAGCGGAGTGGCCACC GCAGCAGCAGCACACAAATGACAGGAAGCGGAGTGGCCACC < 41bp 1 0.109683289129802 1 0.858277559280396 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 WDR62 ENSG00000075702 CDS Human protein_coding chr19:36583689 chr19:36583692 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_20253 1 Benign not specified RCV000147933.2
2072 chr19 36595696 36595696 1 + C T rs149289227 36595715 + 36595695 36595735 41 CCGGGCAGCAGCAGGCACGGACTGAGCTGGTCTCCACCTTC CTGGGCAGCAGCAGGCACGGACTGAGCTGGTCTCCACCTTC < 41bp 1 0.562483449488916 1 0.985119700431824 experiment 0.875033101022168 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 WDR62 ENSG00000075702 CDS Human protein_coding chr19:36595715 chr19:36595696 synonymous SNV . 0 hm6A_associated_SNPs_20255 1 other not specified RCV000293512.1
2073 chr19 39191323 39191323 1 + C T rs77307137 39191307 + 39191287 39191327 41 GATCGAGAACATTGATGAGGACTTCCGAGACGGGCTCAAGC GATCGAGAACATTGATGAGGACTTCCGAGACGGGCTTAAGC < 41bp 1 0.232078990342129 1 0.916356086730957 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39191307 chr19:39191323 synonymous SNV . 0 hm6A_associated_SNPs_20292 1 Benign not specified RCV000243609.1
2074 chr19 39200901 39200901 1 + C G rs34491236 39200906 + 39200886 39200926 41 TTCACTTGCAGACATCGTGAACACGGCCCGGCCCGACGAGA TTCACTTGCAGACATGGTGAACACGGCCCGGCCCGACGAGA < 41bp 1 0.377156782139748 1 0.647262394428253 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 16 ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39200906 chr19:39200901 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_20293 1 Uncertain significance not specified RCV000434975.1
2075 chr19 39207791 39207791 1 + G A rs117392350 39207783 + 39207763 39207803 41 AGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAG AGGACCGTGTGCCCCAAAAGACTATCCAAGAGATGCAGCAG < 41bp 1 0.605003849130008 1 0.995134651660919 experiment 0.789992301739983 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 29 ACTN4 ENSG00000130402 CDS Human protein_coding chr19:39207783 chr19:39207791 synonymous SNV . 0 hm6A_associated_SNPs_20295 1 Benign not specified RCV000246295.1
2076 chr19 41114207 41114207 1 + G A rs114749335 41114199 + 41114179 41114219 41 GACCTCCGCTACAACACCAGACCCCTGGGCCAGGAGCCACC GACCTCCGCTACAACACCAGACCCCTGGACCAGGAGCCACC < 41bp 1 0.169114533982477 1 0.882839918136597 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 LTBP4 ENSG00000090006 CDS Human protein_coding chr19:41114199 chr19:41114207 nonsynonymous SNV 0.964 0 hm6A_associated_SNPs_20339 2 Likely benign not provided RCV000224730.1
2077 chr19 41114207 41114207 1 + G A rs114749335 41114199 + 41114179 41114219 41 GACCTCCGCTACAACACCAGACCCCTGGGCCAGGAGCCACC GACCTCCGCTACAACACCAGACCCCTGGACCAGGAGCCACC < 41bp 1 0.169114533982477 1 0.882839918136597 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 LTBP4 ENSG00000090006 CDS Human protein_coding chr19:41114199 chr19:41114207 nonsynonymous SNV 0.964 0 hm6A_associated_SNPs_20339 2 Uncertain significance Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities RCV000299471.1
2078 chr19 41129842 41129842 1 + C T rs7367 41129841 + 41129821 41129861 41 CTTAATCATCCTCTCCCTAGACAATGACGAGTGCGCCGATG CTTAATCATCCTCTCCCTAGATAATGACGAGTGCGCCGATG Direct Loss 1 0.372172476403835 1 0.947355389595032 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 22 LTBP4 ENSG00000090006 CDS Human protein_coding chr19:41129841 chr19:41129842 synonymous SNV . 0 hm6A_associated_SNPs_20340 1 Benign not specified RCV000151005.2
2079 chr19 41930822 41930822 1 + A G rs10421626 41930820 + 41930800 41930840 41 CCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGG CCCCTCTGGGCATGGGGTGGACGTGGCAGGTCAGCCTGTGG Direct Loss 1 0.397945427322553 1 0.757130861282349 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 23 BCKDHA ENSG00000248098;ENSG00000255730 UTR3 Human other chr19:41930820 chr19:41930822 . . 0 hm6A_associated_SNPs_20362 1 Likely benign Maple syrup urine disease RCV000318312.1
2080 chr19 41930822 41930822 1 + A G rs10421626 41930842 + 41930822 41930862 41 ATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGC GTGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGC < 41bp 1 0.387366985606365 1 0.746260523796082 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 1 BCKDHA ENSG00000248098;ENSG00000255730 UTR3 Human other chr19:41930842 chr19:41930822 . . 0 hm6A_associated_SNPs_20363 1 Likely benign Maple syrup urine disease RCV000318312.1
2081 chr19 41930837 41930837 1 + G A rs564517344 41930820 + 41930800 41930840 41 CCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTGTGG CCCCTCTGGGCATGGGGTGGACATGGCAGGTCAGCCTATGG < 41bp 1 0.52488777955139 1 0.852536797523499 experiment 0.95022444089722 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 38 BCKDHA ENSG00000248098;ENSG00000255730 UTR3 Human other chr19:41930820 chr19:41930837 . . 0 hm6A_associated_SNPs_20364 1 Uncertain significance Maple syrup urine disease RCV000375241.1
2082 chr19 41930837 41930837 1 + G A rs564517344 41930842 + 41930822 41930862 41 ATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGC ATGGCAGGTCAGCCTATGGAACTTGCGCAGGTGCGAGTGGC < 41bp 1 0.406941117934364 1 0.831990122795105 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 16 BCKDHA ENSG00000248098;ENSG00000255730 UTR3 Human other chr19:41930842 chr19:41930837 . . 0 hm6A_associated_SNPs_20365 1 Uncertain significance Maple syrup urine disease RCV000375241.1
2083 chr19 41930847 41930847 1 + C T rs528816040 41930842 + 41930822 41930862 41 ATGGCAGGTCAGCCTGTGGAACTTGCGCAGGTGCGAGTGGC ATGGCAGGTCAGCCTGTGGAACTTGTGCAGGTGCGAGTGGC < 41bp 1 0.374174549723532 1 0.762225866317749 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 26 BCKDHA ENSG00000248098;ENSG00000255730 UTR3 Human other chr19:41930842 chr19:41930847 . . 0 hm6A_associated_SNPs_20366 1 Uncertain significance Maple syrup urine disease RCV000282867.1
2084 chr19 45411941 45411941 1 + T C rs429358 45411927 + 45411907 45411947 41 GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCC GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGCGCGGCC < 41bp 1 0.586903747068631 1 0.973123490810394 experiment 0.826192505862738 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 APOE ENSG00000130203 CDS Human protein_coding chr19:45411927 chr19:45411941 nonsynonymous SNV 0.182 0 hm6A_associated_SNPs_20437 6 Pathogenic Familial type 3 hyperlipoproteinemia RCV000019438.29
2085 chr19 45411941 45411941 1 + T C rs429358 45411927 + 45411907 45411947 41 GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCC GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGCGCGGCC < 41bp 1 0.586903747068631 1 0.973123490810394 experiment 0.826192505862738 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 APOE ENSG00000130203 CDS Human protein_coding chr19:45411927 chr19:45411941 nonsynonymous SNV 0.182 0 hm6A_associated_SNPs_20437 6 Pathogenic Alzheimer disease 2 RCV000019448.32
2086 chr19 45411941 45411941 1 + T C rs429358 45411927 + 45411907 45411947 41 GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCC GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGCGCGGCC < 41bp 1 0.586903747068631 1 0.973123490810394 experiment 0.826192505862738 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 APOE ENSG00000130203 CDS Human protein_coding chr19:45411927 chr19:45411941 nonsynonymous SNV 0.182 0 hm6A_associated_SNPs_20437 6 Pathogenic Familial type 3 hyperlipoproteinemia RCV000019455.29
2087 chr19 45411941 45411941 1 + T C rs429358 45411927 + 45411907 45411947 41 GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCC GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGCGCGGCC < 41bp 1 0.586903747068631 1 0.973123490810394 experiment 0.826192505862738 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 APOE ENSG00000130203 CDS Human protein_coding chr19:45411927 chr19:45411941 nonsynonymous SNV 0.182 0 hm6A_associated_SNPs_20437 6 Pathogenic APOE4(-)-FREIBURG RCV000019456.28
2088 chr19 45411941 45411941 1 + T C rs429358 45411927 + 45411907 45411947 41 GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCC GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGCGCGGCC < 41bp 1 0.586903747068631 1 0.973123490810394 experiment 0.826192505862738 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 APOE ENSG00000130203 CDS Human protein_coding chr19:45411927 chr19:45411941 nonsynonymous SNV 0.182 0 hm6A_associated_SNPs_20437 6 other APOE4 VARIANT RCV000019458.24
2089 chr19 45411941 45411941 1 + T C rs429358 45411927 + 45411907 45411947 41 GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGTGCGGCC GCAGGCCCGGCTGGGCGCGGACATGGAGGACGTGCGCGGCC < 41bp 1 0.586903747068631 1 0.973123490810394 experiment 0.826192505862738 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 APOE ENSG00000130203 CDS Human protein_coding chr19:45411927 chr19:45411941 nonsynonymous SNV 0.182 0 hm6A_associated_SNPs_20437 6 other not provided RCV000292119.1
2090 chr19 45683163 45683163 1 + G A rs142688123 45683144 + 45683124 45683164 41 AGGGACCGAGCCTGAGAAAGACCCGGGGCCGCGGGCCTAGC AGGGACCGAGCCTGAGAAAGACCCGGGGCCGCGGGCCTAAC < 41bp 1 0.773140064856278 1 0.964455842971802 experiment 0.453719870287445 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 40 BLOC1S3 ENSG00000189114;ENSG00000267545 CDS Human other chr19:45683144 chr19:45683163 synonymous SNV . 0 hm6A_associated_SNPs_20442 1 Benign not specified RCV000176017.1
2091 chr19 45685032 45685032 1 + G A rs184044224 45685044 + 45685024 45685064 41 TTTATGGCGGACTGATTAAAACTCTTAAGCATTTACCCTTA TTTATGGCAGACTGATTAAAACTCTTAAGCATTTACCCTTA < 41bp 1 0.516436193503857 1 0.608034312725067 experiment 0.967127612992285 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 9 BLOC1S3 ENSG00000189114 UTR3 Human protein_coding chr19:45685044 chr19:45685032 . . 0 hm6A_associated_SNPs_20443 1 Uncertain significance Hermansky-Pudlak syndrome RCV000330056.1
2092 chr19 45912070 45912070 1 + A G rs3212989 45912068 + 45912048 45912088 41 TAACACTGAGCCTCTAGAAGACACAGTCCTGTCCCCGACCA TAACACTGAGCCTCTAGAAGACGCAGTCCTGTCCCCGACCA Direct Loss 1 0.766118141867344 1 0.999930560588837 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 CD3EAP ENSG00000117877 CDS Human protein_coding chr19:45912068 chr19:45912070 nonsynonymous SNV 0.014 0 hm6A_associated_SNPs_20445 1 Pathogenic not provided RCV000224631.1
2093 chr19 47104678 47104678 1 + C A rs201296349 47104675 + 47104655 47104695 41 CCTTGATCCCCGTGCTCCGGACACCCCGGGCCTCGCCATGG CCTTGATCCCCGTGCTCCGGACAACCCGGGCCTCGCCATGG < 41bp 1 0.54121943560226 1 0.974346518516541 experiment 0.917561128795479 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control 24 CALM3 ENSG00000160014 UTR5 Human protein_coding chr19:47104675 chr19:47104678 . . 0 hm6A_associated_SNPs_20454 1 Benign not specified RCV000438990.1
2094 chr19 47111761 47111761 1 + G A rs34089805 47111754 + 47111734 47111774 41 TCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCA TCCAGGGAACGGGACCATTGACTTCCCAGAGTTCCTGACCA < 41bp 1 0.406780765577106 1 0.963520586490631 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 28 CALM3 ENSG00000160014 CDS Human protein_coding chr19:47111754 chr19:47111761 synonymous SNV . 0 hm6A_associated_SNPs_20455 2 Benign Long QT syndrome 1 RCV000229628.2
2095 chr19 47111761 47111761 1 + G A rs34089805 47111754 + 47111734 47111774 41 TCCAGGGAACGGGACCATTGACTTCCCGGAGTTCCTGACCA TCCAGGGAACGGGACCATTGACTTCCCAGAGTTCCTGACCA < 41bp 1 0.406780765577106 1 0.963520586490631 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 28 CALM3 ENSG00000160014 CDS Human protein_coding chr19:47111754 chr19:47111761 synonymous SNV . 0 hm6A_associated_SNPs_20455 2 Benign not specified RCV000444360.1
2096 chr19 47112207 47112207 1 + C T rs35617141 47112206 + 47112186 47112226 41 TGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGG TGAGATGATCAGGGAGGCTGATATCGATGGAGATGGCCAGG Direct Loss 1 0.704930575854115 1 0.980308353900909 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 CALM3 ENSG00000160014 CDS Human protein_coding chr19:47112206 chr19:47112207 synonymous SNV . 0 hm6A_associated_SNPs_20456 2 Benign Long QT syndrome 1 RCV000232483.2
2097 chr19 47112207 47112207 1 + C T rs35617141 47112206 + 47112186 47112226 41 TGAGATGATCAGGGAGGCTGACATCGATGGAGATGGCCAGG TGAGATGATCAGGGAGGCTGATATCGATGGAGATGGCCAGG Direct Loss 1 0.704930575854115 1 0.980308353900909 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 CALM3 ENSG00000160014 CDS Human protein_coding chr19:47112206 chr19:47112207 synonymous SNV . 0 hm6A_associated_SNPs_20456 2 Benign not specified RCV000421242.1
2098 chr19 47259048 47259048 1 + C G rs143793528 47259033 + 47259013 47259053 41 GCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGC GCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGGCTCGC < 41bp 1 0.677551416386371 1 0.96014928817749 experiment 0.644897167227259 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 36 FKRP ENSG00000181027 CDS Human protein_coding chr19:47259033 chr19:47259048 nonsynonymous SNV 0.030 2 hm6A_associated_SNPs_20467 2 other not specified RCV000082175.11
2099 chr19 47259048 47259048 1 + C G rs143793528 47259033 + 47259013 47259053 41 GCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGCCTCGC GCTGCTCCAGCCCGCCCTGGACCGGCCAGCCGCAGGCTCGC < 41bp 1 0.677551416386371 1 0.96014928817749 experiment 0.644897167227259 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 36 FKRP ENSG00000181027 CDS Human protein_coding chr19:47259033 chr19:47259048 nonsynonymous SNV 0.030 2 hm6A_associated_SNPs_20467 2 Benign Walker-Warburg congenital muscular dystrophy RCV000227473.2
2100 chr19 47259227 47259227 1 + A T rs200990647 47259242 + 47259222 47259262 41 ACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCC ACGTCTGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCC < 41bp 1 0.553961048772511 1 0.970015347003937 experiment 0.892077902454979 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 FKRP ENSG00000181027 CDS Human protein_coding chr19:47259242 chr19:47259227 nonsynonymous SNV 0.991 3 hm6A_associated_SNPs_20468 2 other not specified RCV000173034.4
2101 chr19 47259227 47259227 1 + A T rs200990647 47259242 + 47259222 47259262 41 ACGTCAGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCC ACGTCTGCCTGCGAGAGTGGACCGCCCGCTATGGCGCAGCC < 41bp 1 0.553961048772511 1 0.970015347003937 experiment 0.892077902454979 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 FKRP ENSG00000181027 CDS Human protein_coding chr19:47259242 chr19:47259227 nonsynonymous SNV 0.991 3 hm6A_associated_SNPs_20468 2 Benign Walker-Warburg congenital muscular dystrophy RCV000234733.2
2102 chr19 50322482 50322482 1 + C G rs74863643 50322472 + 50322452 50322492 41 CGTGGTGTTCAACACAGTGGACTGCGCTCCCGAGTCCTACG CGTGGTGTTCAACACAGTGGACTGCGCTCCGGAGTCCTACG < 41bp 1 0.179860918519679 1 0.797306299209595 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 31 MED25 ENSG00000104973 CDS Human protein_coding chr19:50322472 chr19:50322482 synonymous SNV . 0 hm6A_associated_SNPs_20583 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000276787.1
2103 chr19 50322482 50322482 1 + C G rs74863643 50322472 + 50322452 50322492 41 CGTGGTGTTCAACACAGTGGACTGCGCTCCCGAGTCCTACG CGTGGTGTTCAACACAGTGGACTGCGCTCCGGAGTCCTACG < 41bp 1 0.179860918519679 1 0.797306299209595 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 31 MED25 ENSG00000104973 CDS Human protein_coding chr19:50322472 chr19:50322482 synonymous SNV . 0 hm6A_associated_SNPs_20583 2 Benign Charcot-Marie-Tooth disease, type 2 RCV000475601.1
2104 chr19 50813348 50813348 1 + C T rs529409417 50813364 + 50813344 50813384 41 CCCTCGTTATTGATCTATAGACATTAGGAAGGGAGTGAGAC CCCTTGTTATTGATCTATAGACATTAGGAAGGGAGTGAGAC < 41bp 1 0.540606493623709 1 0.12646958231926 experiment 0.918787012752581 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 5 MYH14 ENSG00000267815 ncRNA_exonic Human antisense chr19:50813364 chr19:50813348 . . 0 hm6A_associated_SNPs_20599 1 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000317812.1
2105 chr19 50813349 50813349 1 + G A rs544178350 50813364 + 50813344 50813384 41 CCCTCGTTATTGATCTATAGACATTAGGAAGGGAGTGAGAC CCCTCATTATTGATCTATAGACATTAGGAAGGGAGTGAGAC < 41bp 1 0.495192926565051 1 0.110755681991577 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 6 MYH14 ENSG00000267815 ncRNA_exonic Human antisense chr19:50813364 chr19:50813349 . . 0 hm6A_associated_SNPs_20600 1 Likely benign Nonsyndromic Hearing Loss, Dominant RCV000374430.1
2106 chr19 54635015 54635015 1 + G A rs62144169 54635033 + 54635013 54635053 41 CCGGCCTGGCCTCCCCCAGGACCGAGATCACCGCCCAGTAT CCAGCCTGGCCTCCCCCAGGACCGAGATCACCGCCCAGTAT < 41bp 1 0.686850753911624 1 0.936944246292114 experiment 0.626298492176752 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 3 PRPF31 ENSG00000105618 UTR3 Human protein_coding chr19:54635033 chr19:54635015 . . 0 hm6A_associated_SNPs_20637 1 Uncertain significance Retinitis Pigmentosa, Dominant RCV000278591.1
2107 chr19 54697246 54697246 1 + G A rs2289145 54697227 + 54697207 54697247 41 GCCTGCAGTGAACTCCAGAGACCTAGGGGATGTGGCTGTGT GCCTGCAGTGAACTCCAGAGACCTAGGGGATGTGGCTGTAT < 41bp 1 0.743443520790783 1 0.815406441688538 experiment 0.513112958418435 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 40 TSEN34 ENSG00000170892 UTR3 Human protein_coding chr19:54697227 chr19:54697246 . . 0 hm6A_associated_SNPs_20640 2 Benign not specified RCV000243974.1
2108 chr19 54697246 54697246 1 + G A rs2289145 54697227 + 54697207 54697247 41 GCCTGCAGTGAACTCCAGAGACCTAGGGGATGTGGCTGTGT GCCTGCAGTGAACTCCAGAGACCTAGGGGATGTGGCTGTAT < 41bp 1 0.743443520790783 1 0.815406441688538 experiment 0.513112958418435 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 40 TSEN34 ENSG00000170892 UTR3 Human protein_coding chr19:54697227 chr19:54697246 . . 0 hm6A_associated_SNPs_20640 2 Likely benign Pontoneocerebellar hypoplasia RCV000328362.1
2109 chr20 2637071 2637071 1 + T C rs8958 2637083 + 2637063 2637103 41 GGTAACACTCCAAAATATGGACTCATTTTCCACTCCACCTT GGTAACACCCCAAAATATGGACTCATTTTCCACTCCACCTT < 41bp 1 0.706551816126461 1 0.947940230369568 experiment 0.586896367747078 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 9 NOP56 ENSG00000101361 CDS Human protein_coding chr20:2637083 chr20:2637071 synonymous SNV . 0 hm6A_associated_SNPs_20868 1 Likely benign not specified RCV000117822.2
2110 chr20 4681300 4681300 1 + C G rs183570240 4681308 + 4681288 4681328 41 AGAGGACATATTCACAGTGAACATAACTGTAACATATATGA AGAGGACATATTGACAGTGAACATAACTGTAACATATATGA < 41bp 1 0.432632873360418 1 0.791575849056244 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681308 chr20:4681300 . . 0 hm6A_associated_SNPs_20922 1 Likely benign Genetic prion diseases RCV000322658.1
2111 chr20 4681300 4681300 1 + C G rs183570240 4681313 + 4681293 4681333 41 ACATATTCACAGTGAACATAACTGTAACATATATGAAAGGC ACATATTGACAGTGAACATAACTGTAACATATATGAAAGGC < 41bp 1 0.223392216085929 1 0.817230701446533 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 8 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681313 chr20:4681300 . . 0 hm6A_associated_SNPs_20923 1 Likely benign Genetic prion diseases RCV000322658.1
2112 chr20 4681300 4681300 1 + C G rs183570240 4681319 + 4681299 4681339 41 TCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGG TGACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGG < 41bp 1 0.404806292577236 1 0.753453850746155 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 2 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681319 chr20:4681300 . . 0 hm6A_associated_SNPs_20924 1 Likely benign Genetic prion diseases RCV000322658.1
2113 chr20 4681310 4681310 1 + A G rs7274758 4681308 + 4681288 4681328 41 AGAGGACATATTCACAGTGAACATAACTGTAACATATATGA AGAGGACATATTCACAGTGAACGTAACTGTAACATATATGA Direct Loss 1 0.302855644692253 1 0.745778977870941 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681308 chr20:4681310 . . 0 hm6A_associated_SNPs_20925 1 Benign Genetic prion diseases RCV000379630.1
2114 chr20 4681310 4681310 1 + A G rs7274758 4681313 + 4681293 4681333 41 ACATATTCACAGTGAACATAACTGTAACATATATGAAAGGC ACATATTCACAGTGAACGTAACTGTAACATATATGAAAGGC < 41bp 1 0.213025849839492 1 0.832689523696899 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 18 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681313 chr20:4681310 . . 0 hm6A_associated_SNPs_20926 1 Benign Genetic prion diseases RCV000379630.1
2115 chr20 4681310 4681310 1 + A G rs7274758 4681319 + 4681299 4681339 41 TCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGG TCACAGTGAACGTAACTGTAACATATATGAAAGGCTTCTGG < 41bp 1 0.424262487347012 1 0.764568865299225 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 12 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681319 chr20:4681310 . . 0 hm6A_associated_SNPs_20927 1 Benign Genetic prion diseases RCV000379630.1
2116 chr20 4681325 4681325 1 + A G rs73896126 4681308 + 4681288 4681328 41 AGAGGACATATTCACAGTGAACATAACTGTAACATATATGA AGAGGACATATTCACAGTGAACATAACTGTAACATATGTGA < 41bp 1 0.442296558340171 1 0.703047871589661 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681308 chr20:4681325 . . 0 hm6A_associated_SNPs_20928 1 Likely benign Genetic prion diseases RCV000279025.1
2117 chr20 4681325 4681325 1 + A G rs73896126 4681313 + 4681293 4681333 41 ACATATTCACAGTGAACATAACTGTAACATATATGAAAGGC ACATATTCACAGTGAACATAACTGTAACATATGTGAAAGGC < 41bp 1 0.232256843872224 1 0.746108829975128 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control 33 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681313 chr20:4681325 . . 0 hm6A_associated_SNPs_20929 1 Likely benign Genetic prion diseases RCV000279025.1
2118 chr20 4681325 4681325 1 + A G rs73896126 4681319 + 4681299 4681339 41 TCACAGTGAACATAACTGTAACATATATGAAAGGCTTCTGG TCACAGTGAACATAACTGTAACATATGTGAAAGGCTTCTGG < 41bp 1 0.440423866516529 1 0.667616844177246 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 27 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681319 chr20:4681325 . . 0 hm6A_associated_SNPs_20930 1 Likely benign Genetic prion diseases RCV000279025.1
2119 chr20 4681325 4681325 1 + A G rs73896126 4681341 + 4681321 4681361 41 ATATATGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGG ATATGTGAAAGGCTTCTGGGACTTGAAATCAAATGTTTGGG < 41bp 1 0.408970530312394 1 0.809700012207031 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 5 PRNP ENSG00000171867 UTR3 Human protein_coding chr20:4681341 chr20:4681325 . . 0 hm6A_associated_SNPs_20931 1 Likely benign Genetic prion diseases RCV000279025.1
2120 chr20 6759097 6759097 1 + G A rs142811428 6759079 + 6759059 6759099 41 AATATTTATGAAATCATAAAACCTGCAACAGCCAACTCGAA AATATTTATGAAATCATAAAACCTGCAACAGCCAACTCAAA < 41bp 1 0.763087968277505 1 0.988028645515442 experiment 0.47382406344499 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 39 BMP2 ENSG00000125845 CDS Human protein_coding chr20:6759079 chr20:6759097 synonymous SNV . 0 hm6A_associated_SNPs_20945 1 Likely benign not specified RCV000177128.1
2121 chr20 17950772 17950772 1 + A G rs73107120 17950768 + 17950748 17950788 41 GAGCAAGCATAAGCTGCCAAACCAAGGTGAGGACAGACGAG GAGCAAGCATAAGCTGCCAAACCAGGGTGAGGACAGACGAG < 41bp 1 0.444227363803535 1 0.988896131515503 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 25 MGME1 ENSG00000125871 CDS Human protein_coding chr20:17950768 chr20:17950772 synonymous SNV . 0 hm6A_associated_SNPs_20959 1 Benign not specified RCV000423821.1
2122 chr20 17950772 17950772 1 + A G rs73107120 17950780 + 17950760 17950800 41 GCTGCCAAACCAAGGTGAGGACAGACGAGTGCCACAAAACT GCTGCCAAACCAGGGTGAGGACAGACGAGTGCCACAAAACT < 41bp 1 0.751834711237636 1 0.995405197143555 experiment 0.496330577524728 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 13 MGME1 ENSG00000125871 CDS Human protein_coding chr20:17950780 chr20:17950772 synonymous SNV . 0 hm6A_associated_SNPs_20960 1 Benign not specified RCV000423821.1
2123 chr20 31023028 31023028 1 + A G rs35632616 31023045 + 31023025 31023065 41 TGAAGGATCCTGTAAATGTGACCCCCAGTTCCACACCTGAA TGAGGGATCCTGTAAATGTGACCCCCAGTTCCACACCTGAA < 41bp 1 0.621685451849673 1 0.939964175224304 experiment 0.756629096300655 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31023045 chr20:31023028 nonsynonymous SNV 0.204 1 hm6A_associated_SNPs_21061 2 not provided not specified RCV000120091.1
2124 chr20 31023028 31023028 1 + A G rs35632616 31023045 + 31023025 31023065 41 TGAAGGATCCTGTAAATGTGACCCCCAGTTCCACACCTGAA TGAGGGATCCTGTAAATGTGACCCCCAGTTCCACACCTGAA < 41bp 1 0.621685451849673 1 0.939964175224304 experiment 0.756629096300655 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 ASXL1 ENSG00000171456 CDS Human protein_coding chr20:31023045 chr20:31023028 nonsynonymous SNV 0.204 1 hm6A_associated_SNPs_21061 2 Benign not provided RCV000437602.1
2125 chr20 31027111 31027111 1 + G A rs117307643 31027100 + 31027080 31027120 41 ATGTCTCTTGTGGTATTGGAACAATAAACCCGTACAACCTG ATGTCTCTTGTGGTATTGGAACAATAAACCCATACAACCTG < 41bp 1 0.630824347614522 1 0.656003057956696 experiment 0.738351304770956 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 32 ASXL1 ENSG00000171456 UTR3 Human protein_coding chr20:31027100 chr20:31027111 . . 0 hm6A_associated_SNPs_21064 1 Likely benign C-like syndrome RCV000342632.1
2126 chr20 31383299 31383299 1 + A G rs143462810 31383289 + 31383269 31383309 41 CCGCACCCAAGCGCCTCAAGACAAATTGCTATAACAACGGC CCGCACCCAAGCGCCTCAAGACAAATTGCTGTAACAACGGC < 41bp 1 0.687594875132737 1 0.970436453819275 experiment 0.624810249734526 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 31 DNMT3B ENSG00000088305 CDS Human protein_coding chr20:31383289 chr20:31383299 nonsynonymous SNV 0.816 1 hm6A_associated_SNPs_21065 1 Likely benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency RCV000371781.1
2127 chr20 31383299 31383299 1 + A G rs143462810 31383302 + 31383282 31383322 41 CCTCAAGACAAATTGCTATAACAACGGCAAAGACCGAGGGG CCTCAAGACAAATTGCTGTAACAACGGCAAAGACCGAGGGG < 41bp 1 0.664907200744464 1 0.956174373626709 experiment 0.670185598511072 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 18 DNMT3B ENSG00000088305 CDS Human protein_coding chr20:31383302 chr20:31383299 nonsynonymous SNV 0.816 1 hm6A_associated_SNPs_21066 1 Likely benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency RCV000371781.1
2128 chr20 31384657 31384657 1 + G A rs35216603 31384667 + 31384647 31384687 41 TTGAGGGGGGGCTCTGTCAGACATGCCGGGTAAGTCCTCCT TTGAGGGGGGACTCTGTCAGACATGCCGGGTAAGTCCTCCT < 41bp 1 0.426719009434607 1 0.728790104389191 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 11 DNMT3B ENSG00000088305 CDS Human protein_coding chr20:31384667 chr20:31384657 synonymous SNV . 0 hm6A_associated_SNPs_21067 1 Likely benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency RCV000292138.1
2129 chr20 31396536 31396536 1 + A G rs2424932 31396519 + 31396499 31396539 41 AGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCATAT AGCTGCCATATATTTTGTAGACAAGTATGGCTCCTCCGTAT < 41bp 1 0.301413961709262 1 0.00867286324501038 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 38 DNMT3B ENSG00000088305 UTR3 Human protein_coding chr20:31396519 chr20:31396536 . . 0 hm6A_associated_SNPs_21070 1 Benign Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency RCV000368232.1
2130 chr20 34797675 34797675 1 + G A rs78442416 34797693 + 34797673 34797713 41 CCGGGACAAAAGCGACTCGGACACTGAGGGCCTGCTGTTCT CCAGGACAAAAGCGACTCGGACACTGAGGGCCTGCTGTTCT < 41bp 1 0.778745639372657 1 0.998746931552887 experiment 0.442508721254687 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 3 EPB41L1 ENSG00000088367 CDS Human protein_coding chr20:34797693 chr20:34797675 nonsynonymous SNV 0.976 1 hm6A_associated_SNPs_21099 1 Likely benign not specified RCV000502073.1
2131 chr20 43058460 43058460 1 + G A rs41280258 43058447 + 43058427 43058467 41 GAAGGATGAAGGGCCCGAGAACATGGCCTAAGGGCCACATC GAAGGATGAAGGGCCCGAGAACATGGCCTAAGGACCACATC < 41bp 1 0.204176499310845 1 0.970667481422424 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|28920958;GSE98623;miCLIP;MOLM13;Control 34 HNF4A ENSG00000101076 UTR3 Human protein_coding chr20:43058447 chr20:43058460 . . 0 hm6A_associated_SNPs_21177 2 Likely benign Hyperinsulinism, Dominant RCV000285521.1
2132 chr20 43058460 43058460 1 + G A rs41280258 43058447 + 43058427 43058467 41 GAAGGATGAAGGGCCCGAGAACATGGCCTAAGGGCCACATC GAAGGATGAAGGGCCCGAGAACATGGCCTAAGGACCACATC < 41bp 1 0.204176499310845 1 0.970667481422424 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|28920958;GSE98623;miCLIP;MOLM13;Control 34 HNF4A ENSG00000101076 UTR3 Human protein_coding chr20:43058447 chr20:43058460 . . 0 hm6A_associated_SNPs_21177 2 Likely benign Maturity-onset diabetes of the young RCV000342798.1
2133 chr20 43058547 43058547 1 + T C rs41282030 43058537 + 43058517 43058557 41 GGAGACCTCTACTGCCTTGGACAACTTTTCTCATGTTGAAG GGAGACCTCTACTGCCTTGGACAACTTTTCCCATGTTGAAG < 41bp 1 0.359329851793643 1 0.985092401504517 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26593424;GSE73405;miCLIP;HepG2;Heat_shock 31 HNF4A ENSG00000101076 UTR3 Human protein_coding chr20:43058537 chr20:43058547 . . 0 hm6A_associated_SNPs_21178 2 Likely benign Maturity-onset diabetes of the young RCV000311464.1
2134 chr20 43058547 43058547 1 + T C rs41282030 43058537 + 43058517 43058557 41 GGAGACCTCTACTGCCTTGGACAACTTTTCTCATGTTGAAG GGAGACCTCTACTGCCTTGGACAACTTTTCCCATGTTGAAG < 41bp 1 0.359329851793643 1 0.985092401504517 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26593424;GSE73405;miCLIP;HepG2;Heat_shock 31 HNF4A ENSG00000101076 UTR3 Human protein_coding chr20:43058537 chr20:43058547 . . 0 hm6A_associated_SNPs_21178 2 Likely benign Hyperinsulinism, Dominant RCV000368450.1
2135 chr20 47650104 47650104 1 + A G rs78721163 47650094 + 47650074 47650114 41 ACTCTCCTTGAAAATACTGAACATAGCTGTATAGGTTTGTG ACTCTCCTTGAAAATACTGAACATAGCTGTGTAGGTTTGTG < 41bp 1 0.703953157692937 1 0.574617207050323 experiment 0.592093684614126 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 31 ARFGEF2 ENSG00000124198 UTR3 Human protein_coding chr20:47650094 chr20:47650104 . . 0 hm6A_associated_SNPs_21245 1 Uncertain significance Periventricular Heterotopia RCV000291484.1
2136 chr20 47651158 47651158 1 + A G rs145729807 47651140 + 47651120 47651160 41 TGTTACACAGAATGATTAAAACTTTCAGACTTCTACCTATG TGTTACACAGAATGATTAAAACTTTCAGACTTCTACCTGTG < 41bp 1 0.131779814448877 1 0.441090106964111 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 39 ARFGEF2 ENSG00000124198 UTR3 Human protein_coding chr20:47651140 chr20:47651158 . . 0 hm6A_associated_SNPs_21246 1 Uncertain significance Periventricular Heterotopia RCV000263157.1
2137 chr20 57019366 57019366 1 + G A rs138521885 57019361 + 57019341 57019381 41 TGGGATTTAAATTTATCATAACCATGTGTAAAAAGAAATTA TGGGATTTAAATTTATCATAACCATATGTAAAAAGAAATTA < 41bp 1 0.146872452880015 1 0.0469419062137604 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57019361 chr20:57019366 . . 0 hm6A_associated_SNPs_21294 2 Likely benign Spinal Muscular Atrophy, Dominant RCV000267525.1
2138 chr20 57019366 57019366 1 + G A rs138521885 57019361 + 57019341 57019381 41 TGGGATTTAAATTTATCATAACCATGTGTAAAAAGAAATTA TGGGATTTAAATTTATCATAACCATATGTAAAAAGAAATTA < 41bp 1 0.146872452880015 1 0.0469419062137604 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 26 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57019361 chr20:57019366 . . 0 hm6A_associated_SNPs_21294 2 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000378414.1
2139 chr20 57023096 57023096 1 + G C rs561048421 57023112 + 57023092 57023132 41 AGGAGAAAGAACCAAACTGAACTATGAAAAGTTACCACTCT AGGACAAAGAACCAAACTGAACTATGAAAAGTTACCACTCT < 41bp 1 0.183721083035982 1 0.951349914073944 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control 5 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023112 chr20:57023096 . . 0 hm6A_associated_SNPs_21297 2 Uncertain significance Spinal Muscular Atrophy, Dominant RCV000343799.1
2140 chr20 57023096 57023096 1 + G C rs561048421 57023112 + 57023092 57023132 41 AGGAGAAAGAACCAAACTGAACTATGAAAAGTTACCACTCT AGGACAAAGAACCAAACTGAACTATGAAAAGTTACCACTCT < 41bp 1 0.183721083035982 1 0.951349914073944 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control 5 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023112 chr20:57023096 . . 0 hm6A_associated_SNPs_21297 2 Uncertain significance Amyotrophic Lateral Sclerosis, Dominant RCV000391100.1
2141 chr20 57023113 57023113 1 + C G rs150825395 57023112 + 57023092 57023132 41 AGGAGAAAGAACCAAACTGAACTATGAAAAGTTACCACTCT AGGAGAAAGAACCAAACTGAAGTATGAAAAGTTACCACTCT Direct Loss 1 0.18096378805477 1 0.763727307319641 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control 22 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023112 chr20:57023113 . . 0 hm6A_associated_SNPs_21298 2 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000304157.1
2142 chr20 57023113 57023113 1 + C G rs150825395 57023112 + 57023092 57023132 41 AGGAGAAAGAACCAAACTGAACTATGAAAAGTTACCACTCT AGGAGAAAGAACCAAACTGAAGTATGAAAAGTTACCACTCT Direct Loss 1 0.18096378805477 1 0.763727307319641 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control 22 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023112 chr20:57023113 . . 0 hm6A_associated_SNPs_21298 2 Likely benign Spinal Muscular Atrophy, Dominant RCV000358904.1
2143 chr20 57023811 57023811 1 + T C rs763514 57023817 + 57023797 57023837 41 TTTTTCTTTTTCTGTTGGAAACTGAACACACTACAGACAGT TTTTTCTTTTTCTGCTGGAAACTGAACACACTACAGACAGT < 41bp 1 0.101954463608698 1 0.839915990829468 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023817 chr20:57023811 . . 0 hm6A_associated_SNPs_21300 2 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000328563.1
2144 chr20 57023811 57023811 1 + T C rs763514 57023817 + 57023797 57023837 41 TTTTTCTTTTTCTGTTGGAAACTGAACACACTACAGACAGT TTTTTCTTTTTCTGCTGGAAACTGAACACACTACAGACAGT < 41bp 1 0.101954463608698 1 0.839915990829468 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 15 VAPB ENSG00000124164 UTR3 Human protein_coding chr20:57023817 chr20:57023811 . . 0 hm6A_associated_SNPs_21300 2 Likely benign Spinal Muscular Atrophy, Dominant RCV000364620.1
2145 chr20 57253210 57253210 1 + C A rs141875151 57253209 + 57253189 57253229 41 GGGGCTGTCCACATTAGGGAACTTGCCTCAAAAACAGTCCA GGGGCTGTCCACATTAGGGAAATTGCCTCAAAAACAGTCCA Direct Loss 1 0.0991224314639802 1 0.106859982013702 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 22 STX16-NPEPL1 ENSG00000124222 UTR3 Human protein_coding chr20:57253209 chr20:57253210 . . 0 hm6A_associated_SNPs_21302 1 Likely benign Pseudohypoaldosteronism, Type I, Dominant RCV000312898.1
2146 chr20 57478634 57478634 1 + G A rs117849691 57478618 + 57478598 57478638 41 CAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTG CAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCAATTG < 41bp 1 0.384871004159884 1 0.819625556468964 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 37 GNAS ENSG00000087460 CDS Human protein_coding chr20:57478618 chr20:57478634 synonymous SNV . 0 hm6A_associated_SNPs_21309 1 Benign not specified RCV000501728.1
2147 chr20 61472247 61472247 1 + C T rs6512320 61472261 + 61472241 61472281 41 CCTCATCGGGCTGTCGCCTGACAGCATACCTCAAAAGGCCC CCTCATTGGGCTGTCGCCTGACAGCATACCTCAAAAGGCCC < 41bp 1 0.597653076312426 1 0.945516705513 experiment 0.804693847375148 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 7 COL9A3 ENSG00000092758 UTR3 Human protein_coding chr20:61472261 chr20:61472247 . . 0 hm6A_associated_SNPs_21429 1 Likely benign Multiple Epiphyseal Dysplasia, Dominant RCV000288700.1
2148 chr20 62560689 62560689 1 + C T rs140948457 62560697 + 62560677 62560717 41 GAAATATCACCCCGACAAGAACCCCGACAACCCGGAGGCCG GAAATATCACCCTGACAAGAACCCCGACAACCCGGAGGCCG < 41bp 1 0.308220709239072 1 0.968890786170959 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 DNAJC5 ENSG00000101152 CDS Human protein_coding chr20:62560697 chr20:62560689 synonymous SNV . 0 hm6A_associated_SNPs_21482 3 Benign not specified RCV000187323.1
2149 chr20 62560689 62560689 1 + C T rs140948457 62560697 + 62560677 62560717 41 GAAATATCACCCCGACAAGAACCCCGACAACCCGGAGGCCG GAAATATCACCCTGACAAGAACCCCGACAACCCGGAGGCCG < 41bp 1 0.308220709239072 1 0.968890786170959 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 DNAJC5 ENSG00000101152 CDS Human protein_coding chr20:62560697 chr20:62560689 synonymous SNV . 0 hm6A_associated_SNPs_21482 3 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000360851.1
2150 chr20 62560689 62560689 1 + C T rs140948457 62560697 + 62560677 62560717 41 GAAATATCACCCCGACAAGAACCCCGACAACCCGGAGGCCG GAAATATCACCCTGACAAGAACCCCGACAACCCGGAGGCCG < 41bp 1 0.308220709239072 1 0.968890786170959 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 DNAJC5 ENSG00000101152 CDS Human protein_coding chr20:62560697 chr20:62560689 synonymous SNV . 0 hm6A_associated_SNPs_21482 3 Benign Neuronal ceroid lipofuscinosis RCV000470640.1
2151 chr20 62564224 62564224 1 + C T rs41278214 62564240 + 62564220 62564260 41 ACTACGGAATCCACATGTGGACCATGGGAAGTCAGTCTCTT ACTATGGAATCCACATGTGGACCATGGGAAGTCAGTCTCTT < 41bp 1 0.564673060549774 1 0.95296174287796 experiment 0.870653878900453 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62564240 chr20:62564224 . . 0 hm6A_associated_SNPs_21485 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000394429.1
2152 chr20 62564741 62564741 1 + C A rs182604967 62564748 + 62564728 62564768 41 TACTGCAGATCCGCATGTGGACCATGAGCCGGCTGCCAGCA TACTGCAGATCCGAATGTGGACCATGAGCCGGCTGCCAGCA < 41bp 1 0.496696573281652 1 0.888582229614258 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 14 DNAJC5 ENSG00000101152 UTR3 Human protein_coding chr20:62564748 chr20:62564741 . . 0 hm6A_associated_SNPs_21486 1 Likely benign Neuronal Ceroid-Lipofuscinosis, Recessive RCV000379614.1
2153 chr20 62614448 62614448 1 + A G rs34062309 62614453 + 62614433 62614473 41 GCCCGCCCGTGATGCAAATGACCCTGTGGATGATCGCCATG GCCCGCCCGTGATGCGAATGACCCTGTGGATGATCGCCATG < 41bp 1 0.247667763618553 1 0.948659658432007 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 PRPF6 ENSG00000101161 CDS Human protein_coding chr20:62614453 chr20:62614448 synonymous SNV . 0 hm6A_associated_SNPs_21489 1 Likely benign Retinitis Pigmentosa, Dominant RCV000288447.1
2154 chr21 33032035 33032035 1 + T A rs142752986 33032054 + 33032034 33032074 41 TTTCCGTTGCAGTCCTCGGAACCAGGACCTCGGCGTGGCCT TATCCGTTGCAGTCCTCGGAACCAGGACCTCGGCGTGGCCT < 41bp 1 0.445185945520116 1 0.588989973068237 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 2 SOD1 ENSG00000142168 UTR5 Human protein_coding chr21:33032054 chr21:33032035 . . 0 hm6A_associated_SNPs_21535 1 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000296464.1
2155 chr21 34668747 34668747 1 + A G rs3171425 34668745 + 34668725 34668765 41 GTGAGGGATCAGGGCAGCAAACAAGGGCCAAGACCATCTGA GTGAGGGATCAGGGCAGCAAACGAGGGCCAAGACCATCTGA Direct Loss 1 0.415244856881424 1 0.682165324687958 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 23 IL10RB ENSG00000243646 UTR3 Human protein_coding chr21:34668745 chr21:34668747 . . 0 hm6A_associated_SNPs_21549 1 Benign Inflammatory bowel disease RCV000270142.1
2156 chr21 34668747 34668747 1 + A G rs3171425 34668757 + 34668737 34668777 41 GGCAGCAAACAAGGGCCAAGACCATCTGAGCCAGCCCCACA GGCAGCAAACGAGGGCCAAGACCATCTGAGCCAGCCCCACA < 41bp 1 0.330232101411711 1 0.697975277900696 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 11 IL10RB ENSG00000243646 UTR3 Human protein_coding chr21:34668757 chr21:34668747 . . 0 hm6A_associated_SNPs_21550 1 Benign Inflammatory bowel disease RCV000270142.1
2157 chr21 34668797 34668797 1 + G A rs8178561 34668784 + 34668764 34668804 41 GAGCCAGCCCCACATCTAGAACTCCCAGACCCTGGACTTAG GAGCCAGCCCCACATCTAGAACTCCCAGACCCTAGACTTAG < 41bp 1 0.58511918624976 1 0.858252823352814 experiment 0.829761627500479 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 34 IL10RB ENSG00000243646 UTR3 Human protein_coding chr21:34668784 chr21:34668797 . . 0 hm6A_associated_SNPs_21551 1 Likely benign Inflammatory bowel disease RCV000306565.1
2158 chr21 34668797 34668797 1 + G A rs8178561 34668792 + 34668772 34668812 41 CCCACATCTAGAACTCCCAGACCCTGGACTTAGCCACCAGA CCCACATCTAGAACTCCCAGACCCTAGACTTAGCCACCAGA < 41bp 1 0.312840621640409 1 0.630392134189606 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 26 IL10RB ENSG00000243646 UTR3 Human protein_coding chr21:34668792 chr21:34668797 . . 0 hm6A_associated_SNPs_21552 1 Likely benign Inflammatory bowel disease RCV000306565.1
2159 chr21 34669381 34669381 1 + G A rs1058867 34669366 + 34669346 34669386 41 TTCTACCAGATTATGGATGGACTGATCTGAAAATCGACCTC TTCTACCAGATTATGGATGGACTGATCTGAAAATCAACCTC < 41bp 1 0.368673931866356 1 0.958441853523254 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 36 IL10RB ENSG00000243646 UTR3 Human protein_coding chr21:34669366 chr21:34669381 . . 0 hm6A_associated_SNPs_21553 1 Benign Inflammatory bowel disease RCV000374106.1
2160 chr21 46888673 46888673 1 + G A rs76148908 46888684 + 46888664 46888704 41 GGCTCAGGCGGGGGGAGCGGACCCTGACAAGTTCCAGGTAA GGCTCAGGCAGGGGGAGCGGACCCTGACAAGTTCCAGGTAA < 41bp 1 0.411982157555913 1 0.83663535118103 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 10 COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46888684 chr21:46888673 synonymous SNV . 0 hm6A_associated_SNPs_21757 1 Likely benign Knobloch syndrome 1 RCV000363168.1
2161 chr21 46911188 46911188 1 + C G rs79980197 46911192 + 46911172 46911212 41 GGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTA GGCCTCCCTGGCCCCCGCGGACCCCCGGGACCTGTGGTCTA < 41bp 1 0.112951539406475 1 0.799252390861511 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 17 COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46911192 chr21:46911188 nonsynonymous SNV 0.004 4 hm6A_associated_SNPs_21759 2 Likely benign not specified RCV000248232.1
2162 chr21 46911188 46911188 1 + C G rs79980197 46911192 + 46911172 46911212 41 GGCCTCCCTGGCCCCCCCGGACCCCCGGGACCTGTGGTCTA GGCCTCCCTGGCCCCCGCGGACCCCCGGGACCTGTGGTCTA < 41bp 1 0.112951539406475 1 0.799252390861511 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 17 COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46911192 chr21:46911188 nonsynonymous SNV 0.004 4 hm6A_associated_SNPs_21759 2 Likely benign Knobloch syndrome 1 RCV000272153.1
2163 chr21 46932328 46932328 1 + G A rs7499 46932343 + 46932323 46932363 41 GATGCGGATGGCCGGAGAGGACCGGCGGCTCGGAGGAAGCC GATGCAGATGGCCGGAGAGGACCGGCGGCTCGGAGGAAGCC < 41bp 1 0.751587727695048 1 0.915473699569702 experiment 0.496824544609904 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 6 COL18A1 ENSG00000182871 UTR3 Human protein_coding chr21:46932343 chr21:46932328 . . 0 hm6A_associated_SNPs_21763 2 Benign not specified RCV000249700.1
2164 chr21 46932328 46932328 1 + G A rs7499 46932343 + 46932323 46932363 41 GATGCGGATGGCCGGAGAGGACCGGCGGCTCGGAGGAAGCC GATGCAGATGGCCGGAGAGGACCGGCGGCTCGGAGGAAGCC < 41bp 1 0.751587727695048 1 0.915473699569702 experiment 0.496824544609904 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 6 COL18A1 ENSG00000182871 UTR3 Human protein_coding chr21:46932343 chr21:46932328 . . 0 hm6A_associated_SNPs_21763 2 Benign Knobloch syndrome 1 RCV000368050.1
2165 chr21 46932342 46932342 1 + G A rs373537387 46932343 + 46932323 46932363 41 GATGCGGATGGCCGGAGAGGACCGGCGGCTCGGAGGAAGCC GATGCGGATGGCCGGAGAGAACCGGCGGCTCGGAGGAAGCC < 41bp 1 0.687457864651458 1 0.888302445411682 experiment 0.625084270697084 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 20 COL18A1 ENSG00000182871 UTR3 Human protein_coding chr21:46932343 chr21:46932342 . . 0 hm6A_associated_SNPs_21764 1 Uncertain significance Knobloch syndrome 1 RCV000275794.1
2166 chr21 46933161 46933161 1 + A T rs17255379 46933175 + 46933155 46933195 41 CAGCTGAGCGCCAGGATGGAACACGGCCACATCAAAGAGGC CAGCTGTGCGCCAGGATGGAACACGGCCACATCAAAGAGGC < 41bp 1 0.442236204109016 1 0.746782600879669 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 7 COL18A1 ENSG00000182871 UTR3 Human protein_coding chr21:46933175 chr21:46933161 . . 0 hm6A_associated_SNPs_21767 1 Uncertain significance Knobloch syndrome 1 RCV000364738.1
2167 chr21 46933176 46933176 1 + C A rs186538749 46933175 + 46933155 46933195 41 CAGCTGAGCGCCAGGATGGAACACGGCCACATCAAAGAGGC CAGCTGAGCGCCAGGATGGAAAACGGCCACATCAAAGAGGC Direct Loss 1 0.44125479731487 1 0.826225340366364 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 22 COL18A1 ENSG00000182871 UTR3 Human protein_coding chr21:46933175 chr21:46933176 . . 0 hm6A_associated_SNPs_21769 1 Uncertain significance Knobloch syndrome 1 RCV000377357.1
2168 chr21 47423040 47423040 1 + A G rs11553518 47423034 + 47423014 47423054 41 ACGGCTTTTCTCTTTTACAGACAAGAAGTGTCCAGATTACA ACGGCTTTTCTCTTTTACAGACAAGAGGTGTCCAGATTACA < 41bp 1 0.181928438001533 1 0.741588890552521 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 27 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423034 chr21:47423040 nonsynonymous SNV 0.992 1 hm6A_associated_SNPs_21773 2 other not specified RCV000079796.9
2169 chr21 47423040 47423040 1 + A G rs11553518 47423034 + 47423014 47423054 41 ACGGCTTTTCTCTTTTACAGACAAGAAGTGTCCAGATTACA ACGGCTTTTCTCTTTTACAGACAAGAGGTGTCCAGATTACA < 41bp 1 0.181928438001533 1 0.741588890552521 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 27 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423034 chr21:47423040 nonsynonymous SNV 0.992 1 hm6A_associated_SNPs_21773 2 Benign Collagen VI-related myopathy RCV000299422.1
2170 chr21 47423507 47423507 1 + G A rs1053315 47423527 + 47423507 47423547 41 GTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG ATCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG < 41bp 1 0.750018646903304 1 0.999944567680359 experiment 0.499962706193392 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 1 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423527 chr21:47423507 synonymous SNV . 0 hm6A_associated_SNPs_21774 2 other not specified RCV000079801.9
2171 chr21 47423507 47423507 1 + G A rs1053315 47423527 + 47423507 47423547 41 GTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG ATCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG < 41bp 1 0.750018646903304 1 0.999944567680359 experiment 0.499962706193392 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 1 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423527 chr21:47423507 synonymous SNV . 0 hm6A_associated_SNPs_21774 2 Benign Collagen VI-related myopathy RCV000381032.1
2172 chr21 47423509 47423509 1 + C T rs13051496 47423527 + 47423507 47423547 41 GTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG GTTGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG < 41bp 1 0.733469734367179 1 0.999954223632812 experiment 0.533060531265642 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 3 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423527 chr21:47423509 nonsynonymous SNV 0.021 1 hm6A_associated_SNPs_21775 2 Benign not specified RCV000079802.6
2173 chr21 47423509 47423509 1 + C T rs13051496 47423527 + 47423507 47423547 41 GTCGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG GTTGCTGCAGTTCCTGCAGAACTACACGGCCCTGGCCAGTG < 41bp 1 0.733469734367179 1 0.999954223632812 experiment 0.533060531265642 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 3 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423527 chr21:47423509 nonsynonymous SNV 0.021 1 hm6A_associated_SNPs_21775 2 Benign Collagen VI-related myopathy RCV000277216.1
2174 chr21 47423894 47423894 1 + C T rs141237809 47423898 + 47423878 47423918 41 TCCGCGGTGTCTTCCACCAGACAGTCTCCAGGAAGGTGGCG TCCGCGGTGTCTTCCATCAGACAGTCTCCAGGAAGGTGGCG < 41bp 1 0.685543518133304 1 0.998405039310455 experiment 0.628912963733392 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 17 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423898 chr21:47423894 synonymous SNV . 0 hm6A_associated_SNPs_21776 1 Likely benign not specified RCV000116791.2
2175 chr21 47531915 47531915 1 + C T rs201753549 47531932 + 47531912 47531952 41 CCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCA CCATGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCA < 41bp 1 0.608798137217865 1 0.997564017772675 experiment 0.782403725564271 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47531932 chr21:47531915 synonymous SNV . 0 hm6A_associated_SNPs_21780 3 Likely benign Myosclerosis RCV000292608.1
2176 chr21 47531915 47531915 1 + C T rs201753549 47531932 + 47531912 47531952 41 CCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCA CCATGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCA < 41bp 1 0.608798137217865 1 0.997564017772675 experiment 0.782403725564271 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47531932 chr21:47531915 synonymous SNV . 0 hm6A_associated_SNPs_21780 3 Likely benign Collagen VI-related myopathy RCV000349856.1
2177 chr21 47531915 47531915 1 + C T rs201753549 47531932 + 47531912 47531952 41 CCACGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCA CCATGTGTACTTCGTGCTGGACACCTCGGAGAGCGTCACCA < 41bp 1 0.608798137217865 1 0.997564017772675 experiment 0.782403725564271 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47531932 chr21:47531915 synonymous SNV . 0 hm6A_associated_SNPs_21780 3 Likely benign not specified RCV000374056.2
2178 chr21 47532456 47532456 1 + G A rs35881321 47532463 + 47532443 47532483 41 CTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCA CTCCACCGAGATCAACCAGGACACCATCAACCGCATCATCA < 41bp 1 0.41706953243671 1 0.999963283538818 experiment 1 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 14 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532463 chr21:47532456 nonsynonymous SNV 0.983 1 hm6A_associated_SNPs_21782 3 other not specified RCV000079895.9
2179 chr21 47532456 47532456 1 + G A rs35881321 47532463 + 47532443 47532483 41 CTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCA CTCCACCGAGATCAACCAGGACACCATCAACCGCATCATCA < 41bp 1 0.41706953243671 1 0.999963283538818 experiment 1 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 14 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532463 chr21:47532456 nonsynonymous SNV 0.983 1 hm6A_associated_SNPs_21782 3 Likely benign Collagen VI-related myopathy RCV000274404.1
2180 chr21 47532456 47532456 1 + G A rs35881321 47532463 + 47532443 47532483 41 CTCCACCGAGATCGACCAGGACACCATCAACCGCATCATCA CTCCACCGAGATCAACCAGGACACCATCAACCGCATCATCA < 41bp 1 0.41706953243671 1 0.999963283538818 experiment 1 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 14 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47532463 chr21:47532456 nonsynonymous SNV 0.983 1 hm6A_associated_SNPs_21782 3 Likely benign Myosclerosis RCV000331731.1
2181 chr21 47545823 47545823 1 + G A rs13052956 47545836 + 47545816 47545856 41 GGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT GGATTGCAGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT < 41bp 1 0.721488660518197 1 0.999967217445374 experiment 0.557022678963605 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 8 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545836 chr21:47545823 synonymous SNV . 0 hm6A_associated_SNPs_21783 3 Benign not specified RCV000079869.6
2182 chr21 47545823 47545823 1 + G A rs13052956 47545836 + 47545816 47545856 41 GGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT GGATTGCAGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT < 41bp 1 0.721488660518197 1 0.999967217445374 experiment 0.557022678963605 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 8 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545836 chr21:47545823 synonymous SNV . 0 hm6A_associated_SNPs_21783 3 Benign Collagen VI-related myopathy RCV000267217.1
2183 chr21 47545823 47545823 1 + G A rs13052956 47545836 + 47545816 47545856 41 GGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT GGATTGCAGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT < 41bp 1 0.721488660518197 1 0.999967217445374 experiment 0.557022678963605 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 8 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545836 chr21:47545823 synonymous SNV . 0 hm6A_associated_SNPs_21783 3 Benign Myosclerosis RCV000327020.1
2184 chr21 47545826 47545826 1 + C T rs13046639 47545836 + 47545816 47545856 41 GGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT GGATTGCGGGTGGCACCTGGACACCCTCAGCCCTCAAGTTT < 41bp 1 0.692851392661826 1 0.999962270259857 experiment 0.614297214676348 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 11 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545836 chr21:47545826 synonymous SNV . 0 hm6A_associated_SNPs_21784 3 Benign not specified RCV000079870.6
2185 chr21 47545826 47545826 1 + C T rs13046639 47545836 + 47545816 47545856 41 GGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT GGATTGCGGGTGGCACCTGGACACCCTCAGCCCTCAAGTTT < 41bp 1 0.692851392661826 1 0.999962270259857 experiment 0.614297214676348 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 11 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545836 chr21:47545826 synonymous SNV . 0 hm6A_associated_SNPs_21784 3 Benign Collagen VI-related myopathy RCV000291715.1
2186 chr21 47545826 47545826 1 + C T rs13046639 47545836 + 47545816 47545856 41 GGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT GGATTGCGGGTGGCACCTGGACACCCTCAGCCCTCAAGTTT < 41bp 1 0.692851392661826 1 0.999962270259857 experiment 0.614297214676348 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 11 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545836 chr21:47545826 synonymous SNV . 0 hm6A_associated_SNPs_21784 3 Benign Myosclerosis RCV000381689.1
2187 chr21 47545889 47545889 1 + C G rs61735829 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGGCAGAAGACACGTGTGTTTGCGGTGGTC < 41bp 1 0.532066131122871 1 0.999977111816406 experiment 0.935867737754258 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545889 synonymous SNV . 0 hm6A_associated_SNPs_21785 3 other not specified RCV000079873.9
2188 chr21 47545889 47545889 1 + C G rs61735829 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGGCAGAAGACACGTGTGTTTGCGGTGGTC < 41bp 1 0.532066131122871 1 0.999977111816406 experiment 0.935867737754258 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545889 synonymous SNV . 0 hm6A_associated_SNPs_21785 3 Likely benign Collagen VI-related myopathy RCV000292788.1
2189 chr21 47545889 47545889 1 + C G rs61735829 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGGCAGAAGACACGTGTGTTTGCGGTGGTC < 41bp 1 0.532066131122871 1 0.999977111816406 experiment 0.935867737754258 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545889 synonymous SNV . 0 hm6A_associated_SNPs_21785 3 Likely benign Myosclerosis RCV000352815.1
2190 chr21 47545892 47545892 1 + G A rs16978875 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGCCAAAAGACACGTGTGTTTGCGGTGGTC < 41bp 1 0.639060736547295 1 0.999985456466675 experiment 0.72187852690541 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 17 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545892 synonymous SNV . 0 hm6A_associated_SNPs_21786 3 other not specified RCV000079874.9
2191 chr21 47545892 47545892 1 + G A rs16978875 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGCCAAAAGACACGTGTGTTTGCGGTGGTC < 41bp 1 0.639060736547295 1 0.999985456466675 experiment 0.72187852690541 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 17 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545892 synonymous SNV . 0 hm6A_associated_SNPs_21786 3 Benign Collagen VI-related myopathy RCV000299188.1
2192 chr21 47545892 47545892 1 + G A rs16978875 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGCCAAAAGACACGTGTGTTTGCGGTGGTC < 41bp 1 0.639060736547295 1 0.999985456466675 experiment 0.72187852690541 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 17 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545892 synonymous SNV . 0 hm6A_associated_SNPs_21786 3 Benign Myosclerosis RCV000400892.1
2193 chr21 47545913 47545913 1 + G A rs2839114 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTAGTC < 41bp 1 0.563172431220868 1 0.999982178211212 experiment 0.873655137558264 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 38 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545913 synonymous SNV . 0 hm6A_associated_SNPs_21787 3 Benign not specified RCV000079875.7
2194 chr21 47545913 47545913 1 + G A rs2839114 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTAGTC < 41bp 1 0.563172431220868 1 0.999982178211212 experiment 0.873655137558264 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 38 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545913 synonymous SNV . 0 hm6A_associated_SNPs_21787 3 Benign Myosclerosis RCV000264972.1
2195 chr21 47545913 47545913 1 + G A rs2839114 47545896 + 47545876 47545916 41 AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTGGTC AGGAGAGCCGGCGCCAGAAGACACGTGTGTTTGCGGTAGTC < 41bp 1 0.563172431220868 1 0.999982178211212 experiment 0.873655137558264 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 38 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545896 chr21:47545913 synonymous SNV . 0 hm6A_associated_SNPs_21787 3 Benign Collagen VI-related myopathy RCV000304018.1
2196 chr21 47551909 47551909 1 + G A rs117668143 47551904 + 47551884 47551924 41 GTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACG GTGCACGCAGCGGCCCGTGGACATCATCTTCCTGCTGGACG < 41bp 1 0.562506797714377 1 0.970990538597107 experiment 0.874986404571246 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 26 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47551904 chr21:47551909 nonsynonymous SNV 0.983 4 hm6A_associated_SNPs_21788 2 Likely benign Collagen VI-related myopathy RCV000363818.1
2197 chr21 47551909 47551909 1 + G A rs117668143 47551904 + 47551884 47551924 41 GTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACG GTGCACGCAGCGGCCCGTGGACATCATCTTCCTGCTGGACG < 41bp 1 0.562506797714377 1 0.970990538597107 experiment 0.874986404571246 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 26 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47551904 chr21:47551909 nonsynonymous SNV 0.983 4 hm6A_associated_SNPs_21788 2 Likely benign Myosclerosis RCV000391579.1
2198 chr21 47552130 47552130 1 + A G rs9977394 47552141 + 47552121 47552161 41 GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCG GGAGACCACGCAATACCTGAACTCCTTCTCGCACGTGGGCG < 41bp 1 0.740572190838609 1 0.997160792350769 experiment 0.518855618322782 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552141 chr21:47552130 synonymous SNV . 0 hm6A_associated_SNPs_21789 4 Benign not specified RCV000079884.7
2199 chr21 47552130 47552130 1 + A G rs9977394 47552141 + 47552121 47552161 41 GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCG GGAGACCACGCAATACCTGAACTCCTTCTCGCACGTGGGCG < 41bp 1 0.740572190838609 1 0.997160792350769 experiment 0.518855618322782 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552141 chr21:47552130 synonymous SNV . 0 hm6A_associated_SNPs_21789 4 Benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY RCV000289634.1
2200 chr21 47552130 47552130 1 + A G rs9977394 47552141 + 47552121 47552161 41 GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCG GGAGACCACGCAATACCTGAACTCCTTCTCGCACGTGGGCG < 41bp 1 0.740572190838609 1 0.997160792350769 experiment 0.518855618322782 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552141 chr21:47552130 synonymous SNV . 0 hm6A_associated_SNPs_21789 4 Benign Myosclerosis RCV000348436.1
2201 chr21 47552130 47552130 1 + A G rs9977394 47552141 + 47552121 47552161 41 GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCG GGAGACCACGCAATACCTGAACTCCTTCTCGCACGTGGGCG < 41bp 1 0.740572190838609 1 0.997160792350769 experiment 0.518855618322782 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552141 chr21:47552130 synonymous SNV . 0 hm6A_associated_SNPs_21789 4 Benign Collagen VI-related myopathy RCV000386615.1
2202 chr21 47552350 47552350 1 + A G rs190664941 47552348 + 47552328 47552368 41 GGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGC GGCCTTGGGCAGCGACGTGGACGTGGACGTGCTCACCACGC Direct Loss 1 0.684361635710944 1 0.998020470142365 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 23 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552348 chr21:47552350 nonsynonymous SNV 0.852 1 hm6A_associated_SNPs_21790 3 Benign not specified RCV000176864.1
2203 chr21 47552350 47552350 1 + A G rs190664941 47552348 + 47552328 47552368 41 GGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGC GGCCTTGGGCAGCGACGTGGACGTGGACGTGCTCACCACGC Direct Loss 1 0.684361635710944 1 0.998020470142365 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 23 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552348 chr21:47552350 nonsynonymous SNV 0.852 1 hm6A_associated_SNPs_21790 3 Likely benign Collagen VI-related myopathy RCV000275063.1
2204 chr21 47552350 47552350 1 + A G rs190664941 47552348 + 47552328 47552368 41 GGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGC GGCCTTGGGCAGCGACGTGGACGTGGACGTGCTCACCACGC Direct Loss 1 0.684361635710944 1 0.998020470142365 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 23 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552348 chr21:47552350 nonsynonymous SNV 0.852 1 hm6A_associated_SNPs_21790 3 Likely benign Myosclerosis RCV000332444.1
2205 chr21 47552385 47552385 1 + C T rs6652 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACG < 41bp 1 0.25430724513138 1 0.999565005302429 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 25 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552385 synonymous SNV . 0 hm6A_associated_SNPs_21791 4 Benign not specified RCV000079889.7
2206 chr21 47552385 47552385 1 + C T rs6652 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACG < 41bp 1 0.25430724513138 1 0.999565005302429 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 25 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552385 synonymous SNV . 0 hm6A_associated_SNPs_21791 4 Benign Myosclerosis RCV000335530.1
2207 chr21 47552385 47552385 1 + C T rs6652 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACG < 41bp 1 0.25430724513138 1 0.999565005302429 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 25 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552385 synonymous SNV . 0 hm6A_associated_SNPs_21791 4 Benign Collagen VI-related myopathy RCV000373863.1
2208 chr21 47552385 47552385 1 + C T rs6652 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGTGCCGCCGTGTTCCACG < 41bp 1 0.25430724513138 1 0.999565005302429 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 25 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552385 synonymous SNV . 0 hm6A_associated_SNPs_21791 4 Likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY RCV000404594.1
2209 chr21 47552386 47552386 1 + G A rs117931394 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACG < 41bp 1 0.240200080677924 1 0.999600946903229 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 26 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552386 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21792 4 other not specified RCV000116794.5
2210 chr21 47552386 47552386 1 + G A rs117931394 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACG < 41bp 1 0.240200080677924 1 0.999600946903229 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 26 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552386 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21792 4 Benign Collagen VI-related myopathy RCV000281717.1
2211 chr21 47552386 47552386 1 + G A rs117931394 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACG < 41bp 1 0.240200080677924 1 0.999600946903229 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 26 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552386 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21792 4 Likely benign GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY RCV000290682.1
2212 chr21 47552386 47552386 1 + G A rs117931394 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCACCGCCGTGTTCCACG < 41bp 1 0.240200080677924 1 0.999600946903229 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 26 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552386 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21792 4 Benign Myosclerosis RCV000339033.1
2213 chr21 47552389 47552389 1 + G A rs35139588 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCGCCACCGTGTTCCACG < 41bp 1 0.240032745498476 1 0.999554991722107 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 29 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552389 nonsynonymous SNV 0.028 2 hm6A_associated_SNPs_21793 3 other not specified RCV000079890.8
2214 chr21 47552389 47552389 1 + G A rs35139588 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCGCCACCGTGTTCCACG < 41bp 1 0.240032745498476 1 0.999554991722107 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 29 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552389 nonsynonymous SNV 0.028 2 hm6A_associated_SNPs_21793 3 Likely benign Collagen VI-related myopathy RCV000285298.1
2215 chr21 47552389 47552389 1 + G A rs35139588 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCGCCACCGTGTTCCACG < 41bp 1 0.240032745498476 1 0.999554991722107 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 29 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552389 nonsynonymous SNV 0.028 2 hm6A_associated_SNPs_21793 3 Likely benign Myosclerosis RCV000398635.1
2216 chr21 47754541 47754541 1 + A G rs61735824 47754544 + 47754524 47754564 41 GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT GTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACAAT < 41bp 1 0.210899142178732 1 0.893883287906647 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 PCNT ENSG00000160299 CDS Human protein_coding chr21:47754544 chr21:47754541 synonymous SNV . 0 hm6A_associated_SNPs_21800 2 Benign not specified RCV000147140.3
2217 chr21 47754541 47754541 1 + A G rs61735824 47754544 + 47754524 47754564 41 GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT GTCAGTGACCACCCACCGGAACAGCGTGGGATGTTCACAAT < 41bp 1 0.210899142178732 1 0.893883287906647 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 PCNT ENSG00000160299 CDS Human protein_coding chr21:47754544 chr21:47754541 synonymous SNV . 0 hm6A_associated_SNPs_21800 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000268541.1
2218 chr21 47754563 47754563 1 + A G rs61735822 47754544 + 47754524 47754564 41 GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGT < 41bp 1 0.236122058721396 1 0.84223872423172 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 40 PCNT ENSG00000160299 CDS Human protein_coding chr21:47754544 chr21:47754563 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21801 2 Benign not specified RCV000147144.2
2219 chr21 47754563 47754563 1 + A G rs61735822 47754544 + 47754524 47754564 41 GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAGT < 41bp 1 0.236122058721396 1 0.84223872423172 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 40 PCNT ENSG00000160299 CDS Human protein_coding chr21:47754544 chr21:47754563 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21801 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000359776.1
2220 chr21 47783655 47783655 1 + C G rs61407822 47783642 + 47783622 47783662 41 TGAAATGAGGCAGCTTCAGGACCAACAGGCAGCCCAGATCC TGAAATGAGGCAGCTTCAGGACCAACAGGCAGCGCAGATCC < 41bp 1 0.71248922053144 1 0.99714195728302 experiment 0.575021558937119 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 34 PCNT ENSG00000160299 CDS Human protein_coding chr21:47783642 chr21:47783655 synonymous SNV . 0 hm6A_associated_SNPs_21803 2 Benign not specified RCV000147094.2
2221 chr21 47783655 47783655 1 + C G rs61407822 47783642 + 47783622 47783662 41 TGAAATGAGGCAGCTTCAGGACCAACAGGCAGCCCAGATCC TGAAATGAGGCAGCTTCAGGACCAACAGGCAGCGCAGATCC < 41bp 1 0.71248922053144 1 0.99714195728302 experiment 0.575021558937119 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 34 PCNT ENSG00000160299 CDS Human protein_coding chr21:47783642 chr21:47783655 synonymous SNV . 0 hm6A_associated_SNPs_21803 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000385722.1
2222 chr21 47831813 47831813 1 + G A rs536281306 47831830 + 47831810 47831850 41 GAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAG GAGATGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAG < 41bp 1 0.683678028474617 1 0.996891736984253 experiment 0.632643943050766 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 4 PCNT ENSG00000160299 CDS Human protein_coding chr21:47831830 chr21:47831813 synonymous SNV . 0 hm6A_associated_SNPs_21804 2 Uncertain significance Microcephalic Osteodysplastic Primordial Dwarfism RCV000271861.1
2223 chr21 47831813 47831813 1 + G A rs536281306 47831830 + 47831810 47831850 41 GAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAG GAGATGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAG < 41bp 1 0.683678028474617 1 0.996891736984253 experiment 0.632643943050766 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 4 PCNT ENSG00000160299 CDS Human protein_coding chr21:47831830 chr21:47831813 synonymous SNV . 0 hm6A_associated_SNPs_21804 2 Likely benign not specified RCV000503644.1
2224 chr21 47831845 47831845 1 + G A rs34268261 47831830 + 47831810 47831850 41 GAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAG GAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCACAGAG < 41bp 1 0.689442202985622 1 0.99658477306366 experiment 0.621115594028756 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 36 PCNT ENSG00000160299 CDS Human protein_coding chr21:47831830 chr21:47831845 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21805 2 Benign not specified RCV000081357.6
2225 chr21 47831845 47831845 1 + G A rs34268261 47831830 + 47831810 47831850 41 GAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCGCAGAG GAGGTGCCAGGTGGAGCTGGACAGGCGGCAGGCCCACAGAG < 41bp 1 0.689442202985622 1 0.99658477306366 experiment 0.621115594028756 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 36 PCNT ENSG00000160299 CDS Human protein_coding chr21:47831830 chr21:47831845 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21805 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000329106.1
2226 chr21 47836206 47836206 1 + A C rs35978208 47836194 + 47836174 47836214 41 CTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACA CTGTGACGGAGAAGAGCCTGACATATCACCCCCCATAGACA < 41bp 1 0.756546462923532 1 0.981804132461548 experiment 0.486907074152936 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 33 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836194 chr21:47836206 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21806 2 Benign not specified RCV000147163.2
2227 chr21 47836206 47836206 1 + A C rs35978208 47836194 + 47836174 47836214 41 CTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACA CTGTGACGGAGAAGAGCCTGACATATCACCCCCCATAGACA < 41bp 1 0.756546462923532 1 0.981804132461548 experiment 0.486907074152936 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 33 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836194 chr21:47836206 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21806 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000337798.1
2228 chr21 47836395 47836395 1 + T G rs1044998 47836392 + 47836372 47836412 41 AGAAAAATCAGAATGTCAGGACATGTCTCTTTCTTCACCGA AGAAAAATCAGAATGTCAGGACAGGTCTCTTTCTTCACCGA < 41bp 1 0.754165735370446 1 0.973715901374817 experiment 0.491668529259107 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control 24 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836392 chr21:47836395 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21808 2 Benign not specified RCV000147167.2
2229 chr21 47836395 47836395 1 + T G rs1044998 47836392 + 47836372 47836412 41 AGAAAAATCAGAATGTCAGGACATGTCTCTTTCTTCACCGA AGAAAAATCAGAATGTCAGGACAGGTCTCTTTCTTCACCGA < 41bp 1 0.754165735370446 1 0.973715901374817 experiment 0.491668529259107 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;brain;Control 24 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836392 chr21:47836395 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21808 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000308329.1
2230 chr21 47836547 47836547 1 + T C rs35346764 47836535 + 47836515 47836555 41 AGGTCCTCAGGAAGGACTGGACCCTGGAGCCCTGGCCCAGC AGGTCCTCAGGAAGGACTGGACCCTGGAGCCCCGGCCCAGC < 41bp 1 0.745306740387735 1 0.986449480056763 experiment 0.509386519224529 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 33 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836535 chr21:47836547 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21809 2 Benign not specified RCV000147175.2
2231 chr21 47836547 47836547 1 + T C rs35346764 47836535 + 47836515 47836555 41 AGGTCCTCAGGAAGGACTGGACCCTGGAGCCCTGGCCCAGC AGGTCCTCAGGAAGGACTGGACCCTGGAGCCCCGGCCCAGC < 41bp 1 0.745306740387735 1 0.986449480056763 experiment 0.509386519224529 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 33 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836535 chr21:47836547 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21809 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000335110.1
2232 chr21 47836547 47836547 1 + T C rs35346764 47836565 + 47836545 47836585 41 CCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTG CCCGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTG < 41bp 1 0.687037186308443 1 0.960896134376526 experiment 0.625925627383114 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836565 chr21:47836547 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21810 2 Benign not specified RCV000147175.2
2233 chr21 47836547 47836547 1 + T C rs35346764 47836565 + 47836545 47836585 41 CCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTG CCCGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTG < 41bp 1 0.687037186308443 1 0.960896134376526 experiment 0.625925627383114 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836565 chr21:47836547 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_21810 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000335110.1
2234 chr21 47836571 47836571 1 + C T rs61735812 47836565 + 47836545 47836585 41 CCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTG CCTGGCCCAGCCTCCCCGTGACACCCTACTCAGGAGCCCTG < 41bp 1 0.719006324292104 1 0.964474320411682 experiment 0.561987351415793 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 27 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836565 chr21:47836571 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21811 2 Benign not specified RCV000147177.2
2235 chr21 47836571 47836571 1 + C T rs61735812 47836565 + 47836545 47836585 41 CCTGGCCCAGCCTCCCCGTGACACCCCACTCAGGAGCCCTG CCTGGCCCAGCCTCCCCGTGACACCCTACTCAGGAGCCCTG < 41bp 1 0.719006324292104 1 0.964474320411682 experiment 0.561987351415793 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 27 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836565 chr21:47836571 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21811 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000375588.1
2236 chr21 47836654 47836654 1 + G A rs375741970 47836643 + 47836623 47836663 41 CGGACACCTCGCTGCCACAGACCCAGGGGCCGGGGCTGCTT CGGACACCTCGCTGCCACAGACCCAGGGGCCAGGGCTGCTT < 41bp 1 0.563282107993388 1 0.954646468162537 experiment 0.873435784013224 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836643 chr21:47836654 synonymous SNV . 0 hm6A_associated_SNPs_21813 2 Likely benign not specified RCV000193176.2
2237 chr21 47836654 47836654 1 + G A rs375741970 47836643 + 47836623 47836663 41 CGGACACCTCGCTGCCACAGACCCAGGGGCCGGGGCTGCTT CGGACACCTCGCTGCCACAGACCCAGGGGCCAGGGCTGCTT < 41bp 1 0.563282107993388 1 0.954646468162537 experiment 0.873435784013224 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836643 chr21:47836654 synonymous SNV . 0 hm6A_associated_SNPs_21813 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000395115.1
2238 chr21 47841933 47841933 1 + T C rs61735815 47841943 + 47841923 47841963 41 CAGGAGGCCCTGAGGCTCAAACTGCTGGTCCTGTGACCCCT CAGGAGGCCCCGAGGCTCAAACTGCTGGTCCTGTGACCCCT < 41bp 1 0.163315420337644 1 0.844898462295532 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 PCNT ENSG00000160299 CDS Human protein_coding chr21:47841943 chr21:47841933 synonymous SNV . 0 hm6A_associated_SNPs_21814 2 Benign not specified RCV000147188.2
2239 chr21 47841933 47841933 1 + T C rs61735815 47841943 + 47841923 47841963 41 CAGGAGGCCCTGAGGCTCAAACTGCTGGTCCTGTGACCCCT CAGGAGGCCCCGAGGCTCAAACTGCTGGTCCTGTGACCCCT < 41bp 1 0.163315420337644 1 0.844898462295532 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 PCNT ENSG00000160299 CDS Human protein_coding chr21:47841943 chr21:47841933 synonymous SNV . 0 hm6A_associated_SNPs_21814 2 Likely benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000354400.1
2240 chr21 47841941 47841941 1 + A G rs7277175 47841943 + 47841923 47841963 41 CAGGAGGCCCTGAGGCTCAAACTGCTGGTCCTGTGACCCCT CAGGAGGCCCTGAGGCTCGAACTGCTGGTCCTGTGACCCCT < 41bp 1 0.189743199387077 1 0.889397263526917 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 PCNT ENSG00000160299 CDS Human protein_coding chr21:47841943 chr21:47841941 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21815 2 Benign not specified RCV000147189.2
2241 chr21 47841941 47841941 1 + A G rs7277175 47841943 + 47841923 47841963 41 CAGGAGGCCCTGAGGCTCAAACTGCTGGTCCTGTGACCCCT CAGGAGGCCCTGAGGCTCGAACTGCTGGTCCTGTGACCCCT < 41bp 1 0.189743199387077 1 0.889397263526917 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 PCNT ENSG00000160299 CDS Human protein_coding chr21:47841943 chr21:47841941 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_21815 2 Benign Microcephalic Osteodysplastic Primordial Dwarfism RCV000259539.1
2242 chr21 47851602 47851602 1 + G C rs35557109 47851615 + 47851595 47851635 41 GCTCTCTGAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCC GCTCTCTCAGCTCCAGAAGGACCTTGCGGCTGAGAAGAGCC < 41bp 1 0.685719492847366 1 0.999196767807007 experiment 0.628561014305268 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 8 PCNT ENSG00000160299 CDS Human protein_coding chr21:47851615 chr21:47851602 nonsynonymous SNV 0.001 2 hm6A_associated_SNPs_21816 1 Likely benign not specified RCV000147220.2
2243 chr22 17591089 17591089 1 + G A rs2895332 17591069 + 17591049 17591089 41 CCCAGCCATGAAGGAACTTAACCGCTAGTGCCGAGGACACG CCCAGCCATGAAGGAACTTAACCGCTAGTGCCGAGGACACA < 41bp 1 0.322446691711939 1 0.637858092784882 experiment 1 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 41 IL17RA ENSG00000177663 UTR3 Human protein_coding chr22:17591069 chr22:17591089 . . 0 hm6A_associated_SNPs_21844 1 Benign Familial Candidiasis, Recessive RCV000330329.1
2244 chr22 17591089 17591089 1 + G A rs2895332 17591098 + 17591078 17591118 41 GCCGAGGACACGTTAAACGAACAGGATGGGCCGGGCACGGT GCCGAGGACACATTAAACGAACAGGATGGGCCGGGCACGGT < 41bp 1 0.563152741171481 1 0.809423089027405 experiment 0.873694517657038 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control 12 IL17RA ENSG00000177663 UTR3 Human protein_coding chr22:17591098 chr22:17591089 . . 0 hm6A_associated_SNPs_21845 1 Benign Familial Candidiasis, Recessive RCV000330329.1
2245 chr22 18570955 18570955 1 + C T rs45500699 18570940 + 18570920 18570960 41 GGCGCCCCTGGGGAAATGGGACCAGCCTAATCTCGCGGAGT GGCGCCCCTGGGGAAATGGGACCAGCCTAATCTCGTGGAGT < 41bp 1 0.706047262144976 1 0.970602512359619 experiment 0.587905475710047 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18570940 chr22:18570955 . . 0 hm6A_associated_SNPs_21871 1 Uncertain significance Zellweger syndrome RCV000389759.1
2246 chr22 18571241 18571241 1 + C T rs74988725 18571252 + 18571232 18571272 41 GGCCTTTCACTTCTTGAGAAACATACTTCTTTGCTGGGCAT GGCCTTTCATTTCTTGAGAAACATACTTCTTTGCTGGGCAT < 41bp 1 0.58801423066635 1 0.782549738883972 experiment 0.823971538667301 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 10 PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18571252 chr22:18571241 . . 0 hm6A_associated_SNPs_21873 1 Likely benign Zellweger syndrome RCV000281724.1
2247 chr22 18572798 18572798 1 + G A rs11913772 18572802 + 18572782 18572822 41 AAAATGAGTAAAGTAGGTAAACTTCACAGGCCCCTTAGAAT AAAATGAGTAAAGTAGATAAACTTCACAGGCCCCTTAGAAT < 41bp 1 0.197367468442892 1 0.00302842259407043 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 17 PEX26 ENSG00000215193 UTR3 Human protein_coding chr22:18572802 chr22:18572798 . . 0 hm6A_associated_SNPs_21875 1 Likely benign Zellweger syndrome RCV000384729.1
2248 chr22 19752609 19752609 1 + C T rs61730282 19752598 + 19752578 19752618 41 AAACCTTTGTGTTCGAGGAGACACGATTCACCGCGGTCACT AAACCTTTGTGTTCGAGGAGACACGATTCACTGCGGTCACT < 41bp 1 0.39032820420395 1 0.989503026008606 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 TBX1 ENSG00000184058 CDS Human protein_coding chr22:19752598 chr22:19752609 synonymous SNV . 0 hm6A_associated_SNPs_21882 1 Likely benign not specified RCV000442360.1
2249 chr22 19754091 19754091 1 + A C rs72646967 19754092 + 19754072 19754112 41 AGGCCGGCCCAGTCCCCCGAACCCCGAGCTGCGCCTGGAGG AGGCCGGCCCAGTCCCCCGCACCCCGAGCTGCGCCTGGAGG Direct Loss 1 0.608619656616218 1 0.984457790851593 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HEK293T;Heat_shock 20 TBX1 ENSG00000184058 CDS Human protein_coding chr22:19754092 chr22:19754091 nonsynonymous SNV 0.992 1 hm6A_associated_SNPs_21883 1 Benign Cardiovascular phenotype RCV000245695.1
2250 chr22 19951271 19951271 1 + G A rs4680 19951278 + 19951258 19951298 41 GGATTTCGCTGGCGTGAAGGACAAGGTGTGCATGCCTGACC GGATTTCGCTGGCATGAAGGACAAGGTGTGCATGCCTGACC < 41bp 1 0.693610978393597 1 0.981827318668365 experiment 0.612778043212805 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 COMT ENSG00000093010 CDS Human protein_coding chr22:19951278 chr22:19951271 nonsynonymous SNV 0.920 0 hm6A_associated_SNPs_21885 3 Benign CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM RCV000019156.3
2251 chr22 19951271 19951271 1 + G A rs4680 19951278 + 19951258 19951298 41 GGATTTCGCTGGCGTGAAGGACAAGGTGTGCATGCCTGACC GGATTTCGCTGGCATGAAGGACAAGGTGTGCATGCCTGACC < 41bp 1 0.693610978393597 1 0.981827318668365 experiment 0.612778043212805 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 COMT ENSG00000093010 CDS Human protein_coding chr22:19951278 chr22:19951271 nonsynonymous SNV 0.920 0 hm6A_associated_SNPs_21885 3 drug response nicotine response - Efficacy RCV000211145.1
2252 chr22 19951271 19951271 1 + G A rs4680 19951278 + 19951258 19951298 41 GGATTTCGCTGGCGTGAAGGACAAGGTGTGCATGCCTGACC GGATTTCGCTGGCATGAAGGACAAGGTGTGCATGCCTGACC < 41bp 1 0.693610978393597 1 0.981827318668365 experiment 0.612778043212805 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 COMT ENSG00000093010 CDS Human protein_coding chr22:19951278 chr22:19951271 nonsynonymous SNV 0.920 0 hm6A_associated_SNPs_21885 3 Benign not specified RCV000244083.1
2253 chr22 21242247 21242247 1 + G C rs3171741 21242261 + 21242241 21242281 41 ATAATAGAGTAGGTCTTAAGACATTTTTGCTGTTATAAGGA ATAATACAGTAGGTCTTAAGACATTTTTGCTGTTATAAGGA < 41bp 1 0.575297198243286 1 0.0282299816608429 experiment 0.849405603513428 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 SNAP29 ENSG00000099940 UTR3 Human protein_coding chr22:21242261 chr22:21242247 . . 0 hm6A_associated_SNPs_21911 1 Likely benign Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000369346.1
2254 chr22 21242262 21242262 1 + C T rs375995790 21242261 + 21242241 21242281 41 ATAATAGAGTAGGTCTTAAGACATTTTTGCTGTTATAAGGA ATAATAGAGTAGGTCTTAAGATATTTTTGCTGTTATAAGGA Direct Loss 1 0.569428066530385 1 0.00807270407676697 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 SNAP29 ENSG00000099940 UTR3 Human protein_coding chr22:21242261 chr22:21242262 . . 0 hm6A_associated_SNPs_21912 1 Likely benign Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000260517.1
2255 chr22 21244385 21244385 1 + G A rs165744 21244378 + 21244358 21244398 41 CTACGTCCTGTGCTGAGGGGACTGTCCGTAAGCTACAGGAC CTACGTCCTGTGCTGAGGGGACTGTCCATAAGCTACAGGAC < 41bp 1 0.180199497194432 1 0.932575404644012 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 28 SNAP29 ENSG00000272600 ncRNA_intronic Human antisense chr22:21244378 chr22:21244385 . . 0 hm6A_associated_SNPs_21914 1 Uncertain significance Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000273432.1
2256 chr22 23634790 23634790 1 + G A rs2229038 23634800 + 23634780 23634820 41 AAAGACGCGCGTCTACAGGGACACAGCTGAGCCAAACTGGA AAAGACGCGCATCTACAGGGACACAGCTGAGCCAAACTGGA < 41bp 1 0.293445228547615 1 0.956484854221344 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 11 BCR ENSG00000186716 CDS Human protein_coding chr22:23634800 chr22:23634790 nonsynonymous SNV 0.490 2 hm6A_associated_SNPs_21982 1 Benign not specified RCV000203183.1
2257 chr22 24909346 24909346 1 + G A rs145749836 24909341 + 24909321 24909361 41 GTCTCCCATCCTGGAACGAGACAGCGAGCATGGGGATGTTT GTCTCCCATCCTGGAACGAGACAGCAAGCATGGGGATGTTT < 41bp 1 0.221132387077325 1 0.132758915424347 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control 26 UPB1 ENSG00000100024 CDS Human protein_coding chr22:24909341 chr22:24909346 nonsynonymous SNV 0.446 1 hm6A_associated_SNPs_22016 1 Uncertain significance Deficiency of beta-ureidopropionase RCV000264336.1
2258 chr22 24922381 24922381 1 + C T rs151216546 24922375 + 24922355 24922395 41 TTAGTCAGAAGGCCTAAAGAACAGAGCTAAGGGTTTCCCTG TTAGTCAGAAGGCCTAAAGAACAGAGTTAAGGGTTTCCCTG < 41bp 1 0.222093312157558 1 0.0426333248615265 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 27 UPB1 ENSG00000100024 UTR3 Human protein_coding chr22:24922375 chr22:24922381 . . 0 hm6A_associated_SNPs_22017 1 Uncertain significance Deficiency of beta-ureidopropionase RCV000336402.1
2259 chr22 32875190 32875190 1 + G A rs11107 32875199 + 32875179 32875219 41 CAGACTAGCATGCAGGATGAACAACCAAGTGATTCATTCCA CAGACTAGCATACAGGATGAACAACCAAGTGATTCATTCCA < 41bp 1 0.675114184640596 1 0.773168087005615 experiment 0.649771630718808 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 12 FBXO7 ENSG00000100225 CDS Human protein_coding chr22:32875199 chr22:32875190 nonsynonymous SNV 0.013 0 hm6A_associated_SNPs_22133 2 Benign not specified RCV000175837.1
2260 chr22 32875190 32875190 1 + G A rs11107 32875199 + 32875179 32875219 41 CAGACTAGCATGCAGGATGAACAACCAAGTGATTCATTCCA CAGACTAGCATACAGGATGAACAACCAAGTGATTCATTCCA < 41bp 1 0.675114184640596 1 0.773168087005615 experiment 0.649771630718808 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 12 FBXO7 ENSG00000100225 CDS Human protein_coding chr22:32875199 chr22:32875190 nonsynonymous SNV 0.013 0 hm6A_associated_SNPs_22133 2 Benign Parkinson Disease, Recessive RCV000341646.1
2261 chr22 32894453 32894453 1 + A G rs144538200 32894456 + 32894436 32894476 41 AGGGCGAGGCGGCCCCAATGACAGATTTCCCTTTAGACCCA AGGGCGAGGCGGCCCCAGTGACAGATTTCCCTTTAGACCCA < 41bp 1 0.717441713335392 1 0.719490587711334 experiment 0.565116573329216 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 18 FBXO7 ENSG00000100225 CDS Human protein_coding chr22:32894456 chr22:32894453 nonsynonymous SNV 0.306 0 hm6A_associated_SNPs_22135 1 Uncertain significance Parkinson Disease, Recessive RCV000263188.1
2262 chr22 38155497 38155497 1 + A G rs57799594 38155488 + 38155468 38155508 41 GAGCTCTGAGAGGTTATGTGACTTGCCCAAGGTCACCCCGC GAGCTCTGAGAGGTTATGTGACTTGCCCAGGGTCACCCCGC < 41bp 1 0.37479891222922 1 0.0286822617053986 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 30 TRIOBP ENSG00000100106 CDS Human protein_coding chr22:38155488 chr22:38155497 nonsynonymous SNV 0.497 1 hm6A_associated_SNPs_22211 1 Benign not specified RCV000041122.2
2263 chr22 40742686 40742686 1 + C T rs2228415 40742674 + 40742654 40742694 41 GCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTG GCGACAGGTATAAATTCCGGACATGGCGGCAGTTGTGGCTG < 41bp 1 0.69221898321495 1 0.957042455673218 experiment 0.6155620335701 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 ADSL ENSG00000239900 CDS Human protein_coding chr22:40742674 chr22:40742686 synonymous SNV . 0 hm6A_associated_SNPs_22277 2 other not specified RCV000116237.5
2264 chr22 40742686 40742686 1 + C T rs2228415 40742674 + 40742654 40742694 41 GCGACAGGTATAAATTCCGGACATGGCGGCAGCTGTGGCTG GCGACAGGTATAAATTCCGGACATGGCGGCAGTTGTGGCTG < 41bp 1 0.69221898321495 1 0.957042455673218 experiment 0.6155620335701 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 ADSL ENSG00000239900 CDS Human protein_coding chr22:40742674 chr22:40742686 synonymous SNV . 0 hm6A_associated_SNPs_22277 2 other Adenylosuccinate lyase deficiency RCV000226786.3
2265 chr22 41513472 41513472 1 + A G rs200635644 41513475 + 41513455 41513495 41 GCATGGTCAAAAGCCCAATGACACAGGCAGGCTTGACTTCT GCATGGTCAAAAGCCCAGTGACACAGGCAGGCTTGACTTCT < 41bp 1 0.783007260246004 1 0.579956829547882 experiment 0.433985479507992 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 18 EP300 ENSG00000100393 CDS Human protein_coding chr22:41513475 chr22:41513472 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_22278 1 not provided not specified RCV000120711.1
2266 chr22 41513472 41513472 1 + A G rs200635644 41513490 + 41513470 41513510 41 CAATGACACAGGCAGGCTTGACTTCTCCCAACATGGGGATG CAGTGACACAGGCAGGCTTGACTTCTCCCAACATGGGGATG < 41bp 1 0.702371084091519 1 0.745687544345856 experiment 0.595257831816962 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 3 EP300 ENSG00000100393 CDS Human protein_coding chr22:41513490 chr22:41513472 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_22279 1 not provided not specified RCV000120711.1
2267 chr22 41575097 41575097 1 + C T rs113567138 41575116 + 41575096 41575136 41 CCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGG CTGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGG < 41bp 1 0.771821075389082 1 0.859134435653687 experiment 0.456357849221836 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31548708;GSE125780;DART-seq;HEK293T;Control 2 EP300 ENSG00000231993;ENSG00000232754 ncRNA_intronic Human other chr22:41575116 chr22:41575097 . . 0 hm6A_associated_SNPs_22281 1 Likely benign Rubinstein-Taybi syndrome RCV000321057.1
2268 chr22 41575098 41575098 1 + G A rs75494658 41575116 + 41575096 41575136 41 CCGTTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGG CCATTTGTGGTTTAAAGCAAACATGCAAGATGAACCTGAGG < 41bp 1 0.772377701377499 1 0.845025539398193 experiment 0.455244597245003 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31548708;GSE125780;DART-seq;HEK293T;Control 3 EP300 ENSG00000231993;ENSG00000232754 ncRNA_intronic Human other chr22:41575116 chr22:41575098 . . 0 hm6A_associated_SNPs_22282 1 Likely benign Rubinstein-Taybi syndrome RCV000380138.1
2269 chr22 41903841 41903841 1 + C G rs141772938 41903837 + 41903817 41903857 41 TCGGAGAAGATTGTGTATGGACACCTGGATGACCCCGCCAG TCGGAGAAGATTGTGTATGGACACGTGGATGACCCCGCCAG < 41bp 1 0.554214251040627 1 0.985229134559631 experiment 0.891571497918745 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 25 ACO2 ENSG00000100412 CDS Human protein_coding chr22:41903837 chr22:41903841 nonsynonymous SNV 0.999 2 hm6A_associated_SNPs_22299 1 Pathogenic Optic atrophy 9 RCV000169730.3
2270 chr22 41903852 41903852 1 + C T rs150593227 41903837 + 41903817 41903857 41 TCGGAGAAGATTGTGTATGGACACCTGGATGACCCCGCCAG TCGGAGAAGATTGTGTATGGACACCTGGATGACCCTGCCAG < 41bp 1 0.541342004899534 1 0.984375953674316 experiment 0.917315990200932 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 36 ACO2 ENSG00000100412 CDS Human protein_coding chr22:41903837 chr22:41903852 synonymous SNV . 0 hm6A_associated_SNPs_22300 1 Benign not specified RCV000429948.1
2271 chr22 44342116 44342116 1 + A G rs2294918 44342134 + 44342114 44342154 41 CCAAGGGCTGTCCAGCAGAGACCAAAGCAGAGGCCACCCCG CCGAGGGCTGTCCAGCAGAGACCAAAGCAGAGGCCACCCCG < 41bp 1 0.578504938151247 1 0.945476472377777 experiment 0.842990123697507 Functional Loss 30867593;GSE121942;miCLIP;HepG2;SETD2 knockdown|30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 3 PNPLA3 ENSG00000100344 CDS Human protein_coding chr22:44342134 chr22:44342116 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_22334 1 Likely benign Susceptibility to Nonalcoholic Fatty Liver Disease RCV000275317.1
2272 chr22 46739206 46739206 1 + T C rs144054758 46739203 + 46739183 46739223 41 AGGAAGGACTCCCAATCCTGACATAGTTTGCAACAAGCACA AGGAAGGACTCCCAATCCTGACACAGTTTGCAACAAGCACA < 41bp 1 0.670044577980161 1 0.128469169139862 experiment 0.659910844039679 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 24 TRMU ENSG00000100416 CDS Human protein_coding chr22:46739203 chr22:46739206 nonsynonymous SNV 0.677 4 hm6A_associated_SNPs_22403 1 Uncertain significance not specified RCV000367714.1
2273 chrX 13774739 13774739 1 + A G rs61746932 13774736 + 13774716 13774756 41 AAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTG AAGCCCAGTCTTTGGCAATAACAGAACAAAACCATATGCTG < 41bp 1 0.448253575809038 1 0.577991247177124 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 24 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13774736 chrX:13774739 nonsynonymous SNV 0.792 1 hm6A_associated_SNPs_22493 3 other not specified RCV000146977.2
2274 chrX 13774739 13774739 1 + A G rs61746932 13774736 + 13774716 13774756 41 AAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTG AAGCCCAGTCTTTGGCAATAACAGAACAAAACCATATGCTG < 41bp 1 0.448253575809038 1 0.577991247177124 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 24 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13774736 chrX:13774739 nonsynonymous SNV 0.792 1 hm6A_associated_SNPs_22493 3 Benign Joubert syndrome RCV000228563.2
2275 chrX 13774739 13774739 1 + A G rs61746932 13774736 + 13774716 13774756 41 AAGCCCAGTCTTTGGCAATAACAAAACAAAACCATATGCTG AAGCCCAGTCTTTGGCAATAACAGAACAAAACCATATGCTG < 41bp 1 0.448253575809038 1 0.577991247177124 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 24 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13774736 chrX:13774739 nonsynonymous SNV 0.792 1 hm6A_associated_SNPs_22493 3 Benign Oral-facial-digital syndrome RCV000228563.2
2276 chrX 13774739 13774739 1 + A G rs61746932 13774741 + 13774721 13774761 41 CAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGA CAGTCTTTGGCAATAACAGAACAAAACCATATGCTGAATGA < 41bp 1 0.524821870173476 1 0.708347380161285 experiment 0.950356259653048 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 19 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13774741 chrX:13774739 nonsynonymous SNV 0.792 1 hm6A_associated_SNPs_22494 3 other not specified RCV000146977.2
2277 chrX 13774739 13774739 1 + A G rs61746932 13774741 + 13774721 13774761 41 CAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGA CAGTCTTTGGCAATAACAGAACAAAACCATATGCTGAATGA < 41bp 1 0.524821870173476 1 0.708347380161285 experiment 0.950356259653048 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 19 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13774741 chrX:13774739 nonsynonymous SNV 0.792 1 hm6A_associated_SNPs_22494 3 Benign Joubert syndrome RCV000228563.2
2278 chrX 13774739 13774739 1 + A G rs61746932 13774741 + 13774721 13774761 41 CAGTCTTTGGCAATAACAAAACAAAACCATATGCTGAATGA CAGTCTTTGGCAATAACAGAACAAAACCATATGCTGAATGA < 41bp 1 0.524821870173476 1 0.708347380161285 experiment 0.950356259653048 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 19 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13774741 chrX:13774739 nonsynonymous SNV 0.792 1 hm6A_associated_SNPs_22494 3 Benign Oral-facial-digital syndrome RCV000228563.2
2279 chrX 13778631 13778631 1 + C G rs61742891 13778646 + 13778626 13778666 41 ACTTCCAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAG ACTTCGAGTTCCCCGGAAAGACATATTTTTGGAGAGGACAG < 41bp 1 0.754991440777444 1 0.993400454521179 experiment 0.490017118445113 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 6 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13778646 chrX:13778631 synonymous SNV . 0 hm6A_associated_SNPs_22495 1 Benign not specified RCV000175045.2
2280 chrX 17745057 17745057 1 + A T rs149244552 17745066 + 17745046 17745086 41 CGAATCCACACACTATGCAGACCTCTGGCTCCTAAATGACT CGAATCCACACTCTATGCAGACCTCTGGCTCCTAAATGACT < 41bp 1 0.507469075947775 1 0.993631482124329 experiment 0.98506184810445 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 12 NHS ENSG00000188158 CDS Human protein_coding chrX:17745066 chrX:17745057 nonsynonymous SNV 0.990 4 hm6A_associated_SNPs_22513 1 other not specified RCV000117789.6
2281 chrX 17745427 17745427 1 + T C rs56908561 17745440 + 17745420 17745460 41 AACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGAC AACCCTCCTTAAAAGATGGAACTATATCACTGAGTAAAGAC < 41bp 1 0.736179254720778 1 0.991322696208954 experiment 0.527641490558443 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 8 NHS ENSG00000188158 CDS Human protein_coding chrX:17745440 chrX:17745427 synonymous SNV . 0 hm6A_associated_SNPs_22514 1 Likely benign not specified RCV000117790.2
2282 chrX 17745430 17745430 1 + A G rs56691712 17745440 + 17745420 17745460 41 AACCCTCTTTAAAAGATGGAACTATATCACTGAGTAAAGAC AACCCTCTTTGAAAGATGGAACTATATCACTGAGTAAAGAC < 41bp 1 0.74803240902433 1 0.993387699127197 experiment 0.503935181951341 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 11 NHS ENSG00000188158 CDS Human protein_coding chrX:17745440 chrX:17745430 synonymous SNV . 0 hm6A_associated_SNPs_22515 1 Likely benign not specified RCV000117791.2
2283 chrX 40450585 40450585 1 + C G rs9014 40450568 + 40450548 40450588 41 GGTGATGGTGAAGGGAGTGAACAAACTGGCTCTACCCCCAG GGTGATGGTGAAGGGAGTGAACAAACTGGCTCTACCCGCAG < 41bp 1 0.509970136451994 1 0.366733729839325 experiment 0.980059727096011 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 38 ATP6AP2 ENSG00000182220 CDS Human protein_coding chrX:40450568 chrX:40450585 nonsynonymous SNV 0.910 0 hm6A_associated_SNPs_22539 1 other not specified RCV000081328.7
2284 chrX 40460040 40460040 1 + T C rs7691 40460024 + 40460004 40460044 41 TAACTTTCAGTTTGCAGATGACATGTACAGTCTTTATGGTG TAACTTTCAGTTTGCAGATGACATGTACAGTCTTTACGGTG < 41bp 1 0.665622257500601 1 0.0049891471862793 experiment 0.668755484998799 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 37 ATP6AP2 ENSG00000182220 CDS Human protein_coding chrX:40460024 chrX:40460040 synonymous SNV . 0 hm6A_associated_SNPs_22540 1 other not specified RCV000081329.7
2285 chrX 44929077 44929077 1 + C A rs2230018 44929068 + 44929048 44929088 41 AGAGAGCAAGCCTTCAGGAAACATATTGACGGTGCCTGAAA AGAGAGCAAGCCTTCAGGAAACATATTGAAGGTGCCTGAAA < 41bp 1 0.675991168068942 1 0.918241262435913 experiment 0.648017663862115 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 KDM6A ENSG00000147050 CDS Human protein_coding chrX:44929068 chrX:44929077 nonsynonymous SNV 0.912 0 hm6A_associated_SNPs_22551 1 Benign not specified RCV000121287.8
2286 chrX 46713068 46713068 1 + C T rs147783915 46713062 + 46713042 46713082 41 TGCTACAGTTACCATTGATGACTGTACTAACTGCATAATTT TGCTACAGTTACCATTGATGACTGTATTAACTGCATAATTT < 41bp 1 0.633491999461667 1 0.921916842460632 experiment 0.733016001076667 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 27 RP2 ENSG00000102218 CDS Human protein_coding chrX:46713062 chrX:46713068 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_22558 2 Benign not specified RCV000175832.1
2287 chrX 46713068 46713068 1 + C T rs147783915 46713062 + 46713042 46713082 41 TGCTACAGTTACCATTGATGACTGTACTAACTGCATAATTT TGCTACAGTTACCATTGATGACTGTATTAACTGCATAATTT < 41bp 1 0.633491999461667 1 0.921916842460632 experiment 0.733016001076667 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 27 RP2 ENSG00000102218 CDS Human protein_coding chrX:46713062 chrX:46713068 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_22558 2 Likely benign Retinitis pigmentosa 15 RCV000404081.1
2288 chrX 46713409 46713409 1 + A G rs149503319 46713398 + 46713378 46713418 41 AGAAGATGCTGTGGTTCAGGACTATGTTCCTATACCTACTA AGAAGATGCTGTGGTTCAGGACTATGTTCCTGTACCTACTA < 41bp 1 0.663763679212231 1 0.970417499542236 experiment 0.672472641575538 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 RP2 ENSG00000102218 CDS Human protein_coding chrX:46713398 chrX:46713409 nonsynonymous SNV 0.963 1 hm6A_associated_SNPs_22559 1 Likely benign Retinitis pigmentosa 15 RCV000366422.1
2289 chrX 46740032 46740032 1 + G A rs4239962 46740035 + 46740015 46740055 41 GGGCTATCAAGAGAATTGGAACAAAACCTTGTGACTTTTAG GGGCTATCAAGAGAATTAGAACAAAACCTTGTGACTTTTAG < 41bp 1 0.740394276250163 1 0.15246045589447 experiment 0.519211447499673 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 18 RP2 ENSG00000102218 UTR3 Human protein_coding chrX:46740035 chrX:46740032 . . 0 hm6A_associated_SNPs_22562 1 Benign Retinitis pigmentosa 15 RCV000376469.1
2290 chrX 47070524 47070524 1 + C T rs2228658 47070508 + 47070488 47070528 41 CGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACAT CGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCTACAT < 41bp 1 0.222530668496027 1 0.280588030815125 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 UBA1 ENSG00000130985 CDS Human protein_coding chrX:47070508 chrX:47070524 synonymous SNV . 0 hm6A_associated_SNPs_22572 2 Likely benign Arthrogryposis multiplex congenita, distal, X-linked RCV000404330.1
2291 chrX 47070524 47070524 1 + C T rs2228658 47070508 + 47070488 47070528 41 CGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCCACAT CGGGCTGACAGGCTCTCAGGACCGAGCTGCTGTGGCTACAT < 41bp 1 0.222530668496027 1 0.280588030815125 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 UBA1 ENSG00000130985 CDS Human protein_coding chrX:47070508 chrX:47070524 synonymous SNV . 0 hm6A_associated_SNPs_22572 2 Benign not specified RCV000433590.1
2292 chrX 47780746 47780746 1 + C G rs600999 47780745 + 47780725 47780765 41 CCATGTGTGGAAAAGCCTGAACTGTGCTGTTGGAAAATGAG CCATGTGTGGAAAAGCCTGAAGTGTGCTGTTGGAAAATGAG Direct Loss 1 0.790577088169276 1 0.795133471488953 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 22 ZNF81 ENSG00000197779 UTR3 Human protein_coding chrX:47780745 chrX:47780746 . . 0 hm6A_associated_SNPs_22585 1 Benign Non-syndromic X-linked intellectual disability RCV000330809.1
2293 chrX 49863248 49863248 1 + T C rs573740499 49863264 + 49863244 49863284 41 CAGCTGAAGCTAATGTCTAGACATCAGCAGTAACTAGGCAT CAGCCGAAGCTAATGTCTAGACATCAGCAGTAACTAGGCAT < 41bp 1 0.623445753099748 1 0.00807365775108337 experiment 0.753108493800505 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 5 CLCN5 ENSG00000171365 UTR3 Human protein_coding chrX:49863264 chrX:49863248 . . 0 hm6A_associated_SNPs_22600 1 Likely benign Dent Disease RCV000369370.1
2294 chrX 77158147 77158147 1 + C A rs61752458 77158157 + 77158137 77158177 41 AAGTTCGAAGCATTCAGCAAACAATGGCAAGGCAGAGCCAC AAGTTCGAAGAATTCAGCAAACAATGGCAAGGCAGAGCCAC < 41bp 1 0.646836070011824 1 0.249104678630829 experiment 0.706327859976353 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 11 COX7B ENSG00000131174 CDS Human protein_coding chrX:77158157 chrX:77158147 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_22663 1 Benign not specified RCV000430417.1
2295 chrX 77243944 77243944 1 + G A rs61747968 77243945 + 77243925 77243965 41 TCCAAAGCACATTGCTGAAGACCAAGGGTGTGACAGACATT TCCAAAGCACATTGCTGAAAACCAAGGGTGTGACAGACATT < 41bp 1 0.374620939893966 1 0.991723656654358 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 20 ATP7A ENSG00000165240 CDS Human protein_coding chrX:77243945 chrX:77243944 synonymous SNV . 0 hm6A_associated_SNPs_22664 1 Benign not specified RCV000342543.1
2296 chrX 77243944 77243944 1 + G A rs61747968 77243957 + 77243937 77243977 41 TGCTGAAGACCAAGGGTGTGACAGACATTAAAATTTACCCT TGCTGAAAACCAAGGGTGTGACAGACATTAAAATTTACCCT < 41bp 1 0.552468642896544 1 0.994368553161621 experiment 0.895062714206913 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 8 ATP7A ENSG00000165240 CDS Human protein_coding chrX:77243957 chrX:77243944 synonymous SNV . 0 hm6A_associated_SNPs_22665 1 Benign not specified RCV000342543.1
2297 chrX 77243944 77243944 1 + G A rs61747968 77243961 + 77243941 77243981 41 GAAGACCAAGGGTGTGACAGACATTAAAATTTACCCTCAGA GAAAACCAAGGGTGTGACAGACATTAAAATTTACCCTCAGA < 41bp 1 0.754920885789839 1 0.996074736118317 experiment 0.490158228420323 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 4 ATP7A ENSG00000165240 CDS Human protein_coding chrX:77243961 chrX:77243944 synonymous SNV . 0 hm6A_associated_SNPs_22666 1 Benign not specified RCV000342543.1
2298 chrX 120183030 120183030 1 + T G rs9697983 120183022 + 120183002 120183042 41 ACCCACGGCAGAGTTCCAAGACAGTATATCGGGTGCATCTG ACCCACGGCAGAGTTCCAAGACAGTATAGCGGGTGCATCTG < 41bp 1 0.716513860556563 1 0.990409910678864 experiment 0.566972278886875 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 29 GLUD2 ENSG00000182890 CDS Human protein_coding chrX:120183022 chrX:120183030 nonsynonymous SNV 0.433 2 hm6A_associated_SNPs_22737 1 Pathogenic Parkinson disease, late-onset RCV000022827.24
2299 chrX 123045641 123045641 1 + C T rs9856 123045661 + 123045641 123045681 41 CAATAATCATTTTCAGTTTGACTCATACAGTTAACACAATG TAATAATCATTTTCAGTTTGACTCATACAGTTAACACAATG < 41bp 1 0.336828910121022 1 5.50150871276855e-05 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 1 XIAP ENSG00000101966 UTR3 Human protein_coding chrX:123045661 chrX:123045641 . . 0 hm6A_associated_SNPs_22739 1 Benign Lymphoproliferative syndrome RCV000279320.1
2300 chrX 123046827 123046827 1 + C T rs745822519 123046819 + 123046799 123046839 41 TTTTGTATTTTTTAGTAGTGACTGGTTTCGCGGTGTTGACC TTTTGTATTTTTTAGTAGTGACTGGTTTTGCGGTGTTGACC < 41bp 1 0.313940745658882 1 0.0018736720085144 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 29 XIAP ENSG00000101966 UTR3 Human protein_coding chrX:123046819 chrX:123046827 . . 0 hm6A_associated_SNPs_22741 1 Likely benign Lymphoproliferative syndrome RCV000329387.1
2301 chrX 128695228 128695228 1 + G A rs138260625 128695213 + 128695193 128695233 41 TACTTTGAATCTGTGAAGGAACAAGAATGGTCCATGGCTGT TACTTTGAATCTGTGAAGGAACAAGAATGGTCCATAGCTGT < 41bp 1 0.572456301587144 1 0.119241327047348 experiment 0.855087396825712 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 36 OCRL ENSG00000122126 CDS Human protein_coding chrX:128695213 chrX:128695228 nonsynonymous SNV 0.999 0 hm6A_associated_SNPs_22742 2 Uncertain significance not provided RCV000117868.1
2302 chrX 128695228 128695228 1 + G A rs138260625 128695213 + 128695193 128695233 41 TACTTTGAATCTGTGAAGGAACAAGAATGGTCCATGGCTGT TACTTTGAATCTGTGAAGGAACAAGAATGGTCCATAGCTGT < 41bp 1 0.572456301587144 1 0.119241327047348 experiment 0.855087396825712 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 36 OCRL ENSG00000122126 CDS Human protein_coding chrX:128695213 chrX:128695228 nonsynonymous SNV 0.999 0 hm6A_associated_SNPs_22742 2 Benign not specified RCV000261174.1
2303 chrX 136649499 136649499 1 + C G rs104894963 136649518 + 136649498 136649538 41 TCCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG TGCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG < 41bp 1 0.672034205814078 1 0.995789229869843 experiment 0.655931588371843 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649518 chrX:136649499 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_22774 5 Pathogenic Congenital heart defects, multiple types, 1, X-linked RCV000012192.11
2304 chrX 136649499 136649499 1 + C G rs104894963 136649518 + 136649498 136649538 41 TCCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG TGCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG < 41bp 1 0.672034205814078 1 0.995789229869843 experiment 0.655931588371843 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649518 chrX:136649499 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_22774 5 Benign not specified RCV000126382.2
2305 chrX 136649499 136649499 1 + C G rs104894963 136649518 + 136649498 136649538 41 TCCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG TGCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG < 41bp 1 0.672034205814078 1 0.995789229869843 experiment 0.655931588371843 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649518 chrX:136649499 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_22774 5 Likely benign Heterotaxy, visceral, X-linked RCV000275713.1
2306 chrX 136649499 136649499 1 + C G rs104894963 136649518 + 136649498 136649538 41 TCCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG TGCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG < 41bp 1 0.672034205814078 1 0.995789229869843 experiment 0.655931588371843 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649518 chrX:136649499 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_22774 5 Likely benign VACTERL association with hydrocephaly, X-linked RCV000326072.1
2307 chrX 136649499 136649499 1 + C G rs104894963 136649518 + 136649498 136649538 41 TCCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG TGCTAACTACAGCCCCATGAACATGAACATGGGAGTGAACG < 41bp 1 0.672034205814078 1 0.995789229869843 experiment 0.655931588371843 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 ZIC3 ENSG00000156925 CDS Human protein_coding chrX:136649518 chrX:136649499 nonsynonymous SNV 0.999 1 hm6A_associated_SNPs_22774 5 Likely benign Congenital heart defects 1, nonsyndromic, 1 RCV000370424.1
2308 chrX 149809795 149809795 1 + C T rs367912069 149809800 + 149809780 149809820 41 TAAGTGCTATGAGCTCTGTGACACTTACCCTGCTCTTTTGG TAAGTGCTATGAGCTTTGTGACACTTACCCTGCTCTTTTGG < 41bp 1 0.530669688588603 1 0.86818528175354 experiment 0.938660622822795 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 16 MTM1 ENSG00000171100 CDS Human protein_coding chrX:149809800 chrX:149809795 synonymous SNV . 0 hm6A_associated_SNPs_22779 1 Likely benign not specified RCV000433479.1
2309 chrX 152959843 152959843 1 + C T rs140115896 152959827 + 152959807 152959847 41 GTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCA GTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGTGGCA < 41bp 1 0.248586460926154 1 0.8415766954422 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 SLC6A8 ENSG00000130821 CDS Human protein_coding chrX:152959827 chrX:152959843 synonymous SNV . 0 hm6A_associated_SNPs_22801 2 other not specified RCV000193399.2
2310 chrX 152959843 152959843 1 + C T rs140115896 152959827 + 152959807 152959847 41 GTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGCGGCA GTACGTCTTCCAGCTGTTTGACTACTACTCGGCCAGTGGCA < 41bp 1 0.248586460926154 1 0.8415766954422 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 SLC6A8 ENSG00000130821 CDS Human protein_coding chrX:152959827 chrX:152959843 synonymous SNV . 0 hm6A_associated_SNPs_22801 2 Benign Creatine deficiency, X-linked RCV000461931.1
2311 chrX 153009662 153009662 1 + C T rs782343473 153009671 + 153009651 153009691 41 CATAAAAGCCGCCCAGTGGGACCCACAGTCACACAGAGCGC CATAAAAGCCGTCCAGTGGGACCCACAGTCACACAGAGCGC < 41bp 1 0.364265334434929 1 0.97084653377533 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 12 ABCD1 ENSG00000232725 ncRNA_intronic Human antisense chrX:153009671 chrX:153009662 . . 0 hm6A_associated_SNPs_22802 1 Likely benign Adrenoleukodystrophy RCV000380867.1
2312 chrX 153609257 153609257 1 + C T rs143447675 153609265 + 153609245 153609285 41 ACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCA ACGCCCCATGTATGGCCGGGACAGTGCCTACCAGAGCATCA < 41bp 1 0.691936598226707 1 0.829792022705078 experiment 0.616126803546585 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 13 EMD ENSG00000102119 CDS Human protein_coding chrX:153609265 chrX:153609257 synonymous SNV . 0 hm6A_associated_SNPs_22808 2 Benign not specified RCV000035107.4
2313 chrX 153609257 153609257 1 + C T rs143447675 153609265 + 153609245 153609285 41 ACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCA ACGCCCCATGTATGGCCGGGACAGTGCCTACCAGAGCATCA < 41bp 1 0.691936598226707 1 0.829792022705078 experiment 0.616126803546585 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 13 EMD ENSG00000102119 CDS Human protein_coding chrX:153609265 chrX:153609257 synonymous SNV . 0 hm6A_associated_SNPs_22808 2 Benign Emery-Dreifuss muscular dystrophy 1, X-linked RCV000234779.2
2314 chrX 153629155 153629155 1 + A G rs4909 153629170 + 153629150 153629190 41 CCCCAATCGTGGCCCTCTGGACAAGTGGCGGGCCCTGCACT CCCCAGTCGTGGCCCTCTGGACAAGTGGCGGGCCCTGCACT < 41bp 1 0.768281605305022 1 0.766647756099701 experiment 0.463436789389956 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 6 RPL10 ENSG00000147403 CDS Human protein_coding chrX:153629170 chrX:153629155 nonsynonymous SNV . 0 hm6A_associated_SNPs_22810 1 other not specified RCV000081344.7
2315 chrX 153667176 153667176 1 + T C rs4834 153667169 + 153667149 153667189 41 GTCGATGGGCCGAGGCCGAGACTGGAATGTTGACCTGATTC GTCGATGGGCCGAGGCCGAGACTGGAACGTTGACCTGATTC < 41bp 1 0.217454857348277 1 0.822187006473541 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 28 GDI1 ENSG00000203879 CDS Human protein_coding chrX:153667169 chrX:153667176 synonymous SNV . 0 hm6A_associated_SNPs_22820 1 Likely benign not specified RCV000117138.2
2316 chrX 153667176 153667176 1 + T C rs4834 153667181 + 153667161 153667201 41 AGGCCGAGACTGGAATGTTGACCTGATTCCCAAATTCCTCA AGGCCGAGACTGGAACGTTGACCTGATTCCCAAATTCCTCA < 41bp 1 0.0989988911672031 1 0.70862865447998 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 GDI1 ENSG00000203879 CDS Human protein_coding chrX:153667181 chrX:153667176 synonymous SNV . 0 hm6A_associated_SNPs_22821 1 Likely benign not specified RCV000117138.2
2317 chr9 131395498 131395498 1 + G A ACC 131395502 + 131395482 131395522 41 CCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTC CCACAGAACCTGACCCAGGAACAAGCCGACTACTGCGTCTC < 41bp 1 0.596034138286461 1 0.953844308853149 experiment 0.807931723427078 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 17 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131395502 chr9:131395498 nonsynonymous SNV 0.999 0 hm6A_associated_SNPs_22874 2 Likely benign not specified RCV000189483.2
2318 chr9 131395498 131395498 1 + G A ACC 131395502 + 131395482 131395522 41 CCACAGAACCTGACCCGGGAACAAGCCGACTACTGCGTCTC CCACAGAACCTGACCCAGGAACAAGCCGACTACTGCGTCTC < 41bp 1 0.596034138286461 1 0.953844308853149 experiment 0.807931723427078 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 17 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131395502 chr9:131395498 nonsynonymous SNV 0.999 0 hm6A_associated_SNPs_22874 2 Uncertain significance Early infantile epileptic encephalopathy RCV000467036.1
2319 chr17 17698099 17698099 1 + G A ACC 17698079 + 17698059 17698099 41 CAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGG CAGCGCCCTGGCACAGGAGGACCTGGCCTCCGAGATCCTGA < 41bp 1 0.684313351038209 1 0.999898016452789 experiment 0.631373297923582 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 41 RAI1 ENSG00000108557 CDS Human protein_coding chr17:17698079 chr17:17698099 nonsynonymous SNV 0.996 3 hm6A_associated_SNPs_22944 1 Uncertain significance not specified RCV000153801.3
2320 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Adenocarcinoma of stomach RCV000418083.1
2321 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000419419.1
2322 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Hepatocellular carcinoma RCV000420040.1
2323 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Pilomatrixoma RCV000427501.1
2324 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Malignant melanoma of skin RCV000427907.1
2325 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Adenocarcinoma of lung RCV000430713.1
2326 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Malignant neoplasm of body of uterus RCV000436663.1
2327 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Craniopharyngioma RCV000438184.1
2328 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Medulloblastoma RCV000438599.1
2329 chr3 41266103 41266103 1 + G C ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTCGAATCCATTCTGGTG < 41bp 1 0.490884525708081 1 0.960091471672058 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 26 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266103 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_22958 10 Likely pathogenic Adrenocortical carcinoma RCV000438776.1
2330 chr2 198571904 198571904 1 + G A ACC 198571906 + 198571886 198571926 41 GGCTGGTGAAAGCCCACCGGACCTAGAAACTCAGTTCTTAC GGCTGGTGAAAGCCCACCAGACCTAGAAACTCAGTTCTTAC < 41bp 1 0.768356129027389 1 0.786802470684052 experiment 0.463287741945221 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 19 MARS2 ENSG00000247626 CDS Human protein_coding chr2:198571906 chr2:198571904 nonsynonymous SNV 0.995 1 hm6A_associated_SNPs_22972 1 Likely benign not specified RCV000428016.1
2331 chr2 207635989 207635989 1 + C T ACC 207636008 + 207635988 207636028 41 CCGATTGCTCTTAAGAGGAAACTGGAGGTAAACACATGAAT CTGATTGCTCTTAAGAGGAAACTGGAGGTAAACACATGAAT < 41bp 1 0.068891325620119 1 0.0114443004131317 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 2 FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207636008 chr2:207635989 nonsynonymous SNV 0.446 4 hm6A_associated_SNPs_22986 1 Likely pathogenic not provided RCV000196278.2
2332 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Pathogenic Hepatoblastoma RCV000019146.5
2333 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Uncertain significance Malignant tumor of prostate RCV000149120.1
2334 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Malignant neoplasm of body of uterus RCV000417805.1
2335 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Medulloblastoma RCV000418024.1
2336 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000418475.1
2337 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Craniopharyngioma RCV000425225.1
2338 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Adenocarcinoma of lung RCV000427137.1
2339 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Malignant melanoma RCV000428985.1
2340 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Adrenocortical carcinoma RCV000429363.1
2341 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Hepatocellular carcinoma RCV000435058.1
2342 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Malignant melanoma of skin RCV000436574.1
2343 chr3 41266104 41266104 1 + G T ACC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGTAATCCATTCTGGTG < 41bp 1 0.492644245523629 1 0.944226861000061 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 27 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266104 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23020 12 Likely pathogenic Adenocarcinoma of stomach RCV000437867.1
2344 chr13 32914877 32914877 1 + G T BLCA 32914896 + 32914876 32914916 41 AGAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT ATAATTTAAATTATCAAATAACTTAAATGTTGAAGGTGGTT < 41bp 1 0.214678609607117 1 0.908071398735046 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914896 chr13:32914877 stopgain 0.030 0 hm6A_associated_SNPs_23200 1 Pathogenic Breast-ovarian cancer, familial 2 RCV000256697.2
2345 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Pathogenic Neoplasm of ovary RCV000019141.5
2346 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Pathogenic Pilomatrixoma RCV000030945.4
2347 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic not provided RCV000087195.2
2348 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Malignant neoplasm of body of uterus RCV000421574.1
2349 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Oesophageal carcinoma RCV000422240.1
2350 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Hepatocellular carcinoma RCV000423597.1
2351 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Uterine cervical neoplasms RCV000430788.1
2352 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Medulloblastoma RCV000431366.1
2353 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Adenocarcinoma of lung RCV000432924.1
2354 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Adenocarcinoma of stomach RCV000438791.1
2355 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Adenocarcinoma of prostate RCV000441696.1
2356 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Ovarian Neoplasms RCV000444056.1
2357 chr3 41266113 41266113 1 + C G BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTGTGGTG < 41bp 1 0.527247965318496 1 0.962113380432129 experiment 0.945504069363007 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 36 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266113 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23401 13 Likely pathogenic Transitional cell carcinoma of the bladder RCV000445258.1
2358 chr13 48955538 48955538 1 + C T BLCA 48955546 + 48955526 48955566 41 AAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCT AAACATTTAGAATGATGTGAACATCGAATCATGGAATCCCT < 41bp 1 0.568726303728155 1 0.757473587989807 experiment 0.862547392543691 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 13 RB1 ENSG00000139687 CDS Human protein_coding chr13:48955546 chr13:48955538 stopgain 0.998 1 hm6A_associated_SNPs_23491 2 other Retinoblastoma RCV000114733.2
2359 chr13 48955538 48955538 1 + C T BLCA 48955546 + 48955526 48955566 41 AAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCT AAACATTTAGAATGATGTGAACATCGAATCATGGAATCCCT < 41bp 1 0.568726303728155 1 0.757473587989807 experiment 0.862547392543691 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 13 RB1 ENSG00000139687 CDS Human protein_coding chr13:48955546 chr13:48955538 stopgain 0.998 1 hm6A_associated_SNPs_23491 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000492730.1
2360 chr11 108160394 108160394 1 + G A BLCA 108160377 + 108160357 108160397 41 TATGTGAGCAAGCAGCTGAAACAAATAATGTTTATAAGAAG TATGTGAGCAAGCAGCTGAAACAAATAATGTTTATAAAAAG < 41bp 1 0.627230718618034 1 0.00193479657173157 experiment 0.745538562763933 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 38 ATM ENSG00000149311 CDS Human protein_coding chr11:108160377 chr11:108160394 synonymous SNV . 0 hm6A_associated_SNPs_23528 1 Likely benign Hereditary cancer-predisposing syndrome RCV000218223.1
2361 chr2 47639622 47639622 1 + C T BLCA 47639614 + 47639594 47639634 41 AGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACC AGCTGACTTTTCCACAAAAGACATTTATTAGGACCTCAACC < 41bp 1 0.719412887420341 1 0.790053606033325 experiment 0.561174225159319 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 29 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47639614 chr2:47639622 stopgain 1.000 1 hm6A_associated_SNPs_23685 2 Pathogenic Lynch syndrome RCV000076689.2
2362 chr2 47639622 47639622 1 + C T BLCA 47639614 + 47639594 47639634 41 AGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACC AGCTGACTTTTCCACAAAAGACATTTATTAGGACCTCAACC < 41bp 1 0.719412887420341 1 0.790053606033325 experiment 0.561174225159319 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 29 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47639614 chr2:47639622 stopgain 1.000 1 hm6A_associated_SNPs_23685 2 Pathogenic Lynch syndrome I RCV000410998.1
2363 chr8 31024573 31024573 1 + C T BLCA 31024580 + 31024560 31024600 41 CAGAATGTTAGTTCCTGAAAACATTGACACGTACCTTATCC CAGAATGTTAGTTTCTGAAAACATTGACACGTACCTTATCC < 41bp 1 0.723665596853179 1 0.585091173648834 experiment 0.552668806293642 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 14 WRN ENSG00000165392 CDS Human protein_coding chr8:31024580 chr8:31024573 nonsynonymous SNV 0.937 4 hm6A_associated_SNPs_23790 1 Uncertain significance Werner syndrome RCV000457589.1
2364 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Malignant neoplasm of body of uterus RCV000419510.1
2365 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Medulloblastoma RCV000421744.1
2366 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Uterine cervical neoplasms RCV000422380.1
2367 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Transitional cell carcinoma of the bladder RCV000429157.1
2368 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Malignant melanoma RCV000429774.1
2369 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Hepatocellular carcinoma RCV000430427.1
2370 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Adenocarcinoma of stomach RCV000437131.1
2371 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Adenocarcinoma of prostate RCV000439366.1
2372 chr3 41266097 41266097 1 + G C BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGCACTCTGGAATCCATTCTGGTG Direct Loss 1 0.494464199385189 1 0.798726081848145 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266097 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23907 9 Likely pathogenic Malignant melanoma of skin RCV000440025.1
2373 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Pathogenic Pilomatrixoma RCV000019147.5
2374 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 other Medulloblastoma RCV000019148.6
2375 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Colorectal Neoplasms RCV000418596.1
2376 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Malignant neoplasm of body of uterus RCV000420986.1
2377 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Malignant melanoma of skin RCV000421635.1
2378 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Pancreatic adenocarcinoma RCV000423964.1
2379 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Transitional cell carcinoma of the bladder RCV000428161.1
2380 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Adenocarcinoma of lung RCV000434049.1
2381 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Oesophageal carcinoma RCV000437352.1
2382 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Hepatocellular carcinoma RCV000438845.1
2383 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Adenocarcinoma of stomach RCV000439964.1
2384 chr3 41266101 41266101 1 + C T BLCA 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTTTGGAATCCATTCTGGTG < 41bp 1 0.550750481520673 1 0.973817467689514 experiment 0.898499036958654 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 24 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266101 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_23967 12 Likely pathogenic Adenocarcinoma of prostate RCV000443180.1
2385 chr6 157150430 157150430 1 + C T BLCA 157150419 + 157150399 157150439 41 GTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGC GTTGTATGGCATGGGCAGTAACCCTCATTCTTAGCCTCAGC < 41bp 1 0.0930908903244518 1 0.328277409076691 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157150419 chr6:157150430 stopgain 0.987 0 hm6A_associated_SNPs_24006 5 Pathogenic Agenesis of corpus callosum RCV000414997.1
2386 chr6 157150430 157150430 1 + C T BLCA 157150419 + 157150399 157150439 41 GTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGC GTTGTATGGCATGGGCAGTAACCCTCATTCTTAGCCTCAGC < 41bp 1 0.0930908903244518 1 0.328277409076691 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157150419 chr6:157150430 stopgain 0.987 0 hm6A_associated_SNPs_24006 5 Pathogenic Global developmental delay RCV000414997.1
2387 chr6 157150430 157150430 1 + C T BLCA 157150419 + 157150399 157150439 41 GTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGC GTTGTATGGCATGGGCAGTAACCCTCATTCTTAGCCTCAGC < 41bp 1 0.0930908903244518 1 0.328277409076691 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157150419 chr6:157150430 stopgain 0.987 0 hm6A_associated_SNPs_24006 5 Pathogenic Hypertrichosis RCV000414997.1
2388 chr6 157150430 157150430 1 + C T BLCA 157150419 + 157150399 157150439 41 GTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGC GTTGTATGGCATGGGCAGTAACCCTCATTCTTAGCCTCAGC < 41bp 1 0.0930908903244518 1 0.328277409076691 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157150419 chr6:157150430 stopgain 0.987 0 hm6A_associated_SNPs_24006 5 Pathogenic Nail dysplasia RCV000414997.1
2389 chr6 157150430 157150430 1 + C T BLCA 157150419 + 157150399 157150439 41 GTTGTATGGCATGGGCAGTAACCCTCATTCTCAGCCTCAGC GTTGTATGGCATGGGCAGTAACCCTCATTCTTAGCCTCAGC < 41bp 1 0.0930908903244518 1 0.328277409076691 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157150419 chr6:157150430 stopgain 0.987 0 hm6A_associated_SNPs_24006 5 Pathogenic Neonatal hypotonia RCV000414997.1
2390 chr22 19751747 19751747 1 + C G BLCA 19751758 + 19751738 19751778 41 CCGCGTGCACTACCACCCGGACTCGCCTGCCAAGGGCGCGC CCGCGTGCAGTACCACCCGGACTCGCCTGCCAAGGGCGCGC < 41bp 1 0.295999644980808 1 0.987099766731262 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 10 TBX1 ENSG00000184058 CDS Human protein_coding chr22:19751758 chr22:19751747 nonsynonymous SNV 0.980 5 hm6A_associated_SNPs_24677 1 Pathogenic Shprintzen syndrome RCV000008003.2
2391 chr7 116381038 116381038 1 + G A BLCA 116381041 + 116381021 116381061 41 CGGAGGAATGCCTGAGCGGGACATGGACTCAACAGATCTGT CGGAGGAATGCCTGAGCAGGACATGGACTCAACAGATCTGT < 41bp 1 0.375522355635774 1 0.903924584388733 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 18 MET ENSG00000105976 CDS Human protein_coding chr7:116381041 chr7:116381038 nonsynonymous SNV 0.012 4 hm6A_associated_SNPs_24739 2 not provided not specified RCV000121351.1
2392 chr7 116381038 116381038 1 + G A BLCA 116381041 + 116381021 116381061 41 CGGAGGAATGCCTGAGCGGGACATGGACTCAACAGATCTGT CGGAGGAATGCCTGAGCAGGACATGGACTCAACAGATCTGT < 41bp 1 0.375522355635774 1 0.903924584388733 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 18 MET ENSG00000105976 CDS Human protein_coding chr7:116381041 chr7:116381038 nonsynonymous SNV 0.012 4 hm6A_associated_SNPs_24739 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000167137.1
2393 chr13 32945213 32945213 1 + C T BLCA 32945230 + 32945210 32945250 41 ATTCAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTA ATTTAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTA < 41bp 1 0.245617665681326 1 0.590682983398438 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 4 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32945230 chr13:32945213 stopgain 0.865 1 hm6A_associated_SNPs_24781 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000130433.2
2394 chr13 32945213 32945213 1 + C T BLCA 32945230 + 32945210 32945250 41 ATTCAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTA ATTTAGGAGGAATTTGAAGAACATGAAGGTAAAATTAGTTA < 41bp 1 0.245617665681326 1 0.590682983398438 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 4 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32945230 chr13:32945213 stopgain 0.865 1 hm6A_associated_SNPs_24781 2 Pathogenic Breast-ovarian cancer, familial 2 RCV000241135.1
2395 chr8 61743070 61743070 1 + G A BLCA 61743086 + 61743066 61743106 41 TAACGTACCTAACCTATTAAACACTATGATGGAATTGCGGA TAACATACCTAACCTATTAAACACTATGATGGAATTGCGGA < 41bp 1 0.604034985640696 1 0.953700065612793 experiment 0.791930028718608 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 5 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61743086 chr8:61743070 nonsynonymous SNV 0.989 1 hm6A_associated_SNPs_24795 1 Uncertain significance not specified RCV000174935.1
2396 chr11 108128241 108128241 1 + C G BLCA 108128256 + 108128236 108128276 41 TCACTCTGTTTAAAAATAAGACAAATGAGGAATTCAGAATT TCACTGTGTTTAAAAATAAGACAAATGAGGAATTCAGAATT < 41bp 1 0.680747778611967 1 0.0285618007183075 experiment 0.638504442776067 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 6 ATM ENSG00000149311 CDS Human protein_coding chr11:108128256 chr11:108128241 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_25159 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000468658.1
2397 chr13 32907259 32907259 1 + G A BLCA 32907267 + 32907247 32907287 41 TGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAA TGTTTGCTCACAAAAGGAGGACTCCTTATGTCCAAATTTAA < 41bp 1 0.732931070740066 1 0.994345426559448 experiment 0.534137858519867 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 13 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907267 chr13:32907259 synonymous SNV . 0 hm6A_associated_SNPs_25170 4 Benign Breast-ovarian cancer, familial 2 RCV000112947.2
2398 chr13 32907259 32907259 1 + G A BLCA 32907267 + 32907247 32907287 41 TGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAA TGTTTGCTCACAAAAGGAGGACTCCTTATGTCCAAATTTAA < 41bp 1 0.732931070740066 1 0.994345426559448 experiment 0.534137858519867 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 13 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907267 chr13:32907259 synonymous SNV . 0 hm6A_associated_SNPs_25170 4 Likely benign Hereditary cancer-predisposing syndrome RCV000162904.1
2399 chr13 32907259 32907259 1 + G A BLCA 32907267 + 32907247 32907287 41 TGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAA TGTTTGCTCACAAAAGGAGGACTCCTTATGTCCAAATTTAA < 41bp 1 0.732931070740066 1 0.994345426559448 experiment 0.534137858519867 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 13 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907267 chr13:32907259 synonymous SNV . 0 hm6A_associated_SNPs_25170 4 Benign Hereditary breast and ovarian cancer syndrome RCV000195300.3
2400 chr13 32907259 32907259 1 + G A BLCA 32907267 + 32907247 32907287 41 TGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAA TGTTTGCTCACAAAAGGAGGACTCCTTATGTCCAAATTTAA < 41bp 1 0.732931070740066 1 0.994345426559448 experiment 0.534137858519867 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 13 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907267 chr13:32907259 synonymous SNV . 0 hm6A_associated_SNPs_25170 4 Benign not specified RCV000501303.1
2401 chr14 31349663 31349663 1 + C T BLCA 31349675 + 31349655 31349695 41 CAGGTAAACGACTAAAGAAAACACCCGAGAAGAAAACTGGC CAGGTAAATGACTAAAGAAAACACCCGAGAAGAAAACTGGC < 41bp 1 0.426659888760607 1 0.877621412277222 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 COCH ENSG00000100473 CDS Human protein_coding chr14:31349675 chr14:31349663 stopgain 1.000 1 hm6A_associated_SNPs_25858 1 Uncertain significance not specified RCV000392552.1
2402 chr16 2131630 2131630 1 + G A BLCA 2131650 + 2131630 2131670 41 GCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGC ACTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGC < 41bp 1 0.735103130434824 1 0.949845910072327 experiment 0.529793739130352 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 1 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2131650 chr16:2131630 synonymous SNV . 0 hm6A_associated_SNPs_26009 1 Likely benign Tuberous sclerosis 2 RCV000469359.1
2403 chr21 47754527 47754527 1 + A G BLCA 47754544 + 47754524 47754564 41 GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT GTCGGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT < 41bp 1 0.261844989719496 1 0.874565005302429 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 4 PCNT ENSG00000160299 CDS Human protein_coding chr21:47754544 chr21:47754527 nonsynonymous SNV 0.006 0 hm6A_associated_SNPs_26064 1 Uncertain significance not specified RCV000503706.1
2404 chr9 131371219 131371219 1 + G A BLCA 131371223 + 131371203 131371243 41 CGGCCATTATGCCAAGGGAGACATTTCTAGCCGGCGCAATG CGGCCATTATGCCAAGAGAGACATTTCTAGCCGGCGCAATG < 41bp 1 0.360635493623557 1 0.960513412952423 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 17 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131371223 chr9:131371219 nonsynonymous SNV 0.982 1 hm6A_associated_SNPs_26087 1 Uncertain significance not specified RCV000177832.1
2405 chr1 156105709 156105709 1 + G A BLCA 156105729 + 156105709 156105749 41 GAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGG AAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGG < 41bp 1 0.223097901083414 1 0.982986211776733 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 1 LMNA ENSG00000160789 CDS Human protein_coding chr1:156105729 chr1:156105709 synonymous SNV . 0 hm6A_associated_SNPs_26140 1 Likely benign not specified RCV000041380.2
2406 chr10 89692851 89692851 1 + T C BLCA 89692863 + 89692843 89692883 41 CCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTC CCAATGGCCAAGTGAAGATGACAATCATGTTGCAGCAATTC < 41bp 1 0.798486613482538 1 0.913508176803589 experiment 0.403026773034924 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692863 chr10:89692851 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_26436 2 Pathogenic Lhermitte-Duclos disease RCV000008278.3
2407 chr10 89692851 89692851 1 + T C BLCA 89692863 + 89692843 89692883 41 CCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTC CCAATGGCCAAGTGAAGATGACAATCATGTTGCAGCAATTC < 41bp 1 0.798486613482538 1 0.913508176803589 experiment 0.403026773034924 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692863 chr10:89692851 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_26436 2 Pathogenic not provided RCV000304615.1
2408 chr6 74171787 74171787 1 + C T BLCA 74171786 + 74171766 74171806 41 GCTCCTCACTCACCGCGTGGACACGATCGGTGAGGAGCGCG GCTCCTCACTCACCGCGTGGATACGATCGGTGAGGAGCGCG Direct Loss 1 0.516591432238079 1 0.853848874568939 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 22 MTO1 ENSG00000135297 CDS Human protein_coding chr6:74171786 chr6:74171787 synonymous SNV . 0 hm6A_associated_SNPs_26606 1 Likely benign not specified RCV000424852.1
2409 chr10 72636365 72636365 1 + C T BLCA 72636360 + 72636340 72636380 41 AGCTATACAATTCCTAAAGGACATTCGAGAATCTGTCACTC AGCTATACAATTCCTAAAGGACATTTGAGAATCTGTCACTC < 41bp 1 0.796388514489031 1 0.925988674163818 experiment 0.407222971021938 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 26 SGPL1 ENSG00000166224 CDS Human protein_coding chr10:72636360 chr10:72636365 stopgain 0.825 1 hm6A_associated_SNPs_26680 1 Pathogenic NEPHROTIC SYNDROME 14 RCV000495962.1
2410 chr19 10904473 10904473 1 + C T BLCA 10904458 + 10904438 10904478 41 GGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTCCGGGG GGGCTCAGGAGATCAGGTGGACACTCTGGAGCTCTTCGGGG < 41bp 1 0.764386209568396 1 0.652360200881958 experiment 0.471227580863207 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31257032;GSE122961;MAZTER-seq;ESC;Control 36 DNM2 ENSG00000079805 CDS Human protein_coding chr19:10904458 chr19:10904473 nonsynonymous SNV 0.990 3 hm6A_associated_SNPs_26926 1 Likely pathogenic not provided RCV000485589.1
2411 chr17 79674001 79674001 1 + G A BLCA 79673993 + 79673973 79674013 41 CACATTTCACCGTCCGCCTGACCGAGGCGAAGCCCGTGGAC CACATTTCACCGTCCGCCTGACCGAGGCAAAGCCCGTGGAC < 41bp 1 0.607977190448315 1 0.997079253196716 experiment 0.78404561910337 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 29 MRPL12 ENSG00000183048;ENSG00000262660;ENSG00000262814 CDS Human other chr17:79673993 chr17:79674001 synonymous SNV . 0 hm6A_associated_SNPs_26933 1 Likely benign not specified RCV000434163.1
2412 chr14 74156135 74156135 1 + A G BRCA 74156151 + 74156131 74156171 41 GGCAATCCCTTGGAAGAGAAACATTCTGCTGAGAATAACTG GGCAGTCCCTTGGAAGAGAAACATTCTGCTGAGAATAACTG < 41bp 1 0.467594587013136 1 0.144852936267853 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 5 DNAL1 ENSG00000119661 CDS Human protein_coding chr14:74156151 chr14:74156135 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_27231 2 Pathogenic Ciliary dyskinesia, primary, 16 RCV000023801.4
2413 chr14 74156135 74156135 1 + A G BRCA 74156151 + 74156131 74156171 41 GGCAATCCCTTGGAAGAGAAACATTCTGCTGAGAATAACTG GGCAGTCCCTTGGAAGAGAAACATTCTGCTGAGAATAACTG < 41bp 1 0.467594587013136 1 0.144852936267853 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 5 DNAL1 ENSG00000119661 CDS Human protein_coding chr14:74156151 chr14:74156135 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_27231 2 Pathogenic Kartagener syndrome RCV000190934.1
2414 chr6 7575559 7575559 1 + C T BRCA 7575579 + 7575559 7575599 41 CGTTGTTGGCCACTATGAAGACAGAACTACAGAAAGCCCAG TGTTGTTGGCCACTATGAAGACAGAACTACAGAAAGCCCAG < 41bp 1 0.514455868670297 1 0.982881128787994 experiment 0.971088262659407 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 1 DSP ENSG00000096696 CDS Human protein_coding chr6:7575579 chr6:7575559 nonsynonymous SNV 0.816 0 hm6A_associated_SNPs_27236 1 Uncertain significance not specified RCV000181300.1
2415 chr1 156104249 156104249 1 + G A BRCA 156104264 + 156104244 156104284 41 GCGGCGGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGG GCGGCAGGTGGATGCTGAGAACAGGCTGCAGACCATGAAGG < 41bp 1 0.752243343386955 1 0.833511352539062 experiment 0.495513313226089 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 6 LMNA ENSG00000160789 CDS Human protein_coding chr1:156104264 chr1:156104249 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27445 1 Pathogenic not provided RCV000057421.3
2416 chr17 2573487 2573487 1 + C T BRCA 2573501 + 2573481 2573521 41 TTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGA TTTGAATGAACTCTTAAAGGACATACAGACTCTGTACAGGA < 41bp 1 0.7971953419551 1 0.943419992923737 experiment 0.405609316089801 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 7 PAFAH1B1 ENSG00000007168 CDS Human protein_coding chr17:2573501 chr17:2573487 stopgain 1.000 1 hm6A_associated_SNPs_27585 2 Pathogenic Lissencephaly 1 RCV000147038.1
2417 chr17 2573487 2573487 1 + C T BRCA 2573501 + 2573481 2573521 41 TTTGAACGAACTCTTAAAGGACATACAGACTCTGTACAGGA TTTGAATGAACTCTTAAAGGACATACAGACTCTGTACAGGA < 41bp 1 0.7971953419551 1 0.943419992923737 experiment 0.405609316089801 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 7 PAFAH1B1 ENSG00000007168 CDS Human protein_coding chr17:2573501 chr17:2573487 stopgain 1.000 1 hm6A_associated_SNPs_27585 2 Pathogenic not provided RCV000255123.1
2418 chrX 19371264 19371264 1 + C T BRCA 19371257 + 19371237 19371277 41 GATGCACATGTATGCCAAGAACTTCTACGGGGGCAATGGCA GATGCACATGTATGCCAAGAACTTCTATGGGGGCAATGGCA < 41bp 1 0.148892747476156 1 0.899610638618469 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 28 PDHA1 ENSG00000131828 CDS Human protein_coding chrX:19371257 chrX:19371264 synonymous SNV . 0 hm6A_associated_SNPs_27605 1 other not provided RCV000078557.4
2419 chr10 89692920 89692920 1 + T A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGGTGTAATGAAATGTGCA < 41bp 1 0.312997797069985 1 0.833160638809204 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 34 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692920 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27681 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000490950.1
2420 chr10 89692900 89692900 1 + G C BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAACGGACGAACTGGTGTAATGATATGTGCA < 41bp 1 0.335578753606636 1 0.889835715293884 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 14 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692900 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27682 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000490879.1
2421 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Pathogenic Cowden syndrome 1 RCV000008275.2
2422 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Pathogenic Hereditary cancer-predisposing syndrome RCV000131067.4
2423 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Pathogenic PTEN hamartoma tumor syndrome RCV000178761.1
2424 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Pathogenic not provided RCV000212880.1
2425 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Neoplasm RCV000419778.1
2426 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Colorectal Neoplasms RCV000420485.1
2427 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Adenocarcinoma of prostate RCV000420647.1
2428 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Malignant melanoma of skin RCV000421074.1
2429 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Adenocarcinoma of stomach RCV000422627.1
2430 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Pathogenic Ovarian Neoplasms RCV000427853.1
2431 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Neoplasm of the breast RCV000429175.1
2432 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Uterine cervical neoplasms RCV000429864.1
2433 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Uterine Carcinosarcoma RCV000432211.1
2434 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Malignant neoplasm of body of uterus RCV000432862.1
2435 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Glioblastoma RCV000435236.1
2436 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Squamous cell carcinoma of lung RCV000437651.1
2437 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Renal cell carcinoma RCV000438720.1
2438 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Small cell lung cancer RCV000439397.1
2439 chr10 89692905 89692905 1 + G A BRCA 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACAAACTGGTGTAATGATATGTGCA < 41bp 1 0.246171515272665 1 0.55694991350174 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 19 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692905 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_27683 19 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000440076.1
2440 chr1 231396396 231396396 1 + G A CESC 231396384 + 231396364 231396404 41 ACCCTGAGCAAAGTATTTAAACAAATTTTCTCGAAGGTGTG ACCCTGAGCAAAGTATTTAAACAAATTTTCTCAAAGGTGTG < 41bp 1 0.728428891991454 1 0.0564669668674469 experiment 0.543142216017092 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 33 GNPAT ENSG00000116906 CDS Human protein_coding chr1:231396384 chr1:231396396 synonymous SNV . 0 hm6A_associated_SNPs_28258 1 Likely benign not specified RCV000425231.1
2441 chr19 1223135 1223135 1 + G A CESC 1223118 + 1223098 1223138 41 CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATG CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGAATG < 41bp 1 0.382863894735062 1 0.998690068721771 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 38 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223118 chr19:1223135 nonsynonymous SNV 0.574 1 hm6A_associated_SNPs_28385 2 not provided not specified RCV000122093.1
2442 chr19 1223135 1223135 1 + G A CESC 1223118 + 1223098 1223138 41 CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATG CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGAATG < 41bp 1 0.382863894735062 1 0.998690068721771 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 38 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223118 chr19:1223135 nonsynonymous SNV 0.574 1 hm6A_associated_SNPs_28385 2 Uncertain significance Peutz-Jeghers syndrome RCV000470035.1
2443 chr5 82836875 82836875 1 + G A CESC 82836863 + 82836843 82836883 41 TCCCTGCTCCTAGCACAGAAACAGAATTAGACGTTTTACTT TCCCTGCTCCTAGCACAGAAACAGAATTAGACATTTTACTT < 41bp 1 0.402686954758885 1 0.951122403144836 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 33 VCAN ENSG00000038427 CDS Human protein_coding chr5:82836863 chr5:82836875 nonsynonymous SNV 0.069 0 hm6A_associated_SNPs_28531 1 Uncertain significance Malignant tumor of prostate RCV000149079.1
2444 chr5 176665378 176665378 1 + C T CESC 176665396 + 176665376 176665416 41 GGCCCCTTGGCTCAGTCAGAACTTGGAGGTGGACATGCTGA GGTCCCTTGGCTCAGTCAGAACTTGGAGGTGGACATGCTGA < 41bp 1 0.38343009875672 1 0.929550588130951 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176665396 chr5:176665378 synonymous SNV . 0 hm6A_associated_SNPs_28558 1 Benign not specified RCV000146824.1
2445 chr12 54677742 54677742 1 + C T CESC 54677746 + 54677726 54677766 41 ATACTTTGCAAAACCACGAAACCAAGGTATGGTATCTATGT ATACTTTGCAAAACCATGAAACCAAGGTATGGTATCTATGT < 41bp 1 0.103723796780647 1 0.636220216751099 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 17 HNRNPA1 ENSG00000135486 CDS Human protein_coding chr12:54677746 chr12:54677742 stopgain 0.998 0 hm6A_associated_SNPs_28624 1 Likely pathogenic Chronic progressive multiple sclerosis RCV000122455.1
2446 chr12 124171406 124171406 1 + G A CESC 124171401 + 124171381 124171421 41 AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACGGTCC AGGAATGCTCATCAAATTTAACAACACTGTTCAGACGGTCC < 41bp 1 0.5010269949151 1 0.0639764964580536 experiment 0.997946010169799 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 26 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124171401 chr12:124171406 synonymous SNV . 0 hm6A_associated_SNPs_28824 2 Uncertain significance Joubert syndrome RCV000292077.1
2447 chr12 124171406 124171406 1 + G A CESC 124171401 + 124171381 124171421 41 AGGAATGCTCATCAAATTTAACAACGCTGTTCAGACGGTCC AGGAATGCTCATCAAATTTAACAACACTGTTCAGACGGTCC < 41bp 1 0.5010269949151 1 0.0639764964580536 experiment 0.997946010169799 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 26 TCTN2 ENSG00000168778 CDS Human protein_coding chr12:124171401 chr12:124171406 synonymous SNV . 0 hm6A_associated_SNPs_28824 2 Uncertain significance Meckel-Gruber syndrome RCV000328307.1
2448 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Pathogenic Cowden syndrome 1 RCV000008263.5
2449 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Pathogenic Bannayan-Riley-Ruvalcaba syndrome RCV000008264.4
2450 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Pathogenic Macrocephaly/autism syndrome RCV000008265.4
2451 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Pathogenic not provided RCV000078615.3
2452 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Pathogenic Hereditary cancer-predisposing syndrome RCV000132187.5
2453 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Pathogenic PTEN hamartoma tumor syndrome RCV000199099.3
2454 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Pathogenic Ovarian Neoplasms RCV000424529.1
2455 chr10 89692904 89692904 1 + C T CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGATGAACTGGTGTAATGATATGTGCA < 41bp 1 0.305654645806053 1 0.74802553653717 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692904 stopgain 1.000 1 hm6A_associated_SNPs_28977 8 Likely pathogenic Neoplasm of brain RCV000443514.1
2456 chr17 40695717 40695717 1 + C T CESC 40695709 + 40695689 40695729 41 CTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGC CTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGC < 41bp 1 0.743323715107574 1 0.993042528629303 experiment 0.513352569784853 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 NAGLU ENSG00000108784 CDS Human protein_coding chr17:40695709 chr17:40695717 nonsynonymous SNV 0.819 5 hm6A_associated_SNPs_29024 2 Pathogenic Mucopolysaccharidosis, MPS-III-B RCV000001633.4
2457 chr17 40695717 40695717 1 + C T CESC 40695709 + 40695689 40695729 41 CTTCCGCTACGACCTGCTGGACCTCACTCGGCAGGCAGTGC CTTCCGCTACGACCTGCTGGACCTCACTTGGCAGGCAGTGC < 41bp 1 0.743323715107574 1 0.993042528629303 experiment 0.513352569784853 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 NAGLU ENSG00000108784 CDS Human protein_coding chr17:40695709 chr17:40695717 nonsynonymous SNV 0.819 5 hm6A_associated_SNPs_29024 2 Pathogenic Sanfilippo syndrome RCV000265203.1
2458 chr19 50906815 50906815 1 + C T CESC 50906811 + 50906791 50906831 41 CACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCA CACCGGTTACAACATCCAGAACTTTGACCTTCCGTACCTCA < 41bp 1 0.317015788557751 1 0.921113133430481 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906811 chr19:50906815 synonymous SNV . 0 hm6A_associated_SNPs_29181 1 Likely benign Colorectal cancer 10 RCV000465435.1
2459 chr6 121768436 121768436 1 + G A CESC 121768453 + 121768433 121768473 41 TGCGAGGGGGGTTGCTGCGAACCTACATCATCAGTATCCTC TGCAAGGGGGGTTGCTGCGAACCTACATCATCAGTATCCTC < 41bp 1 0.392308404381061 1 0.977397382259369 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 4 GJA1 ENSG00000152661 CDS Human protein_coding chr6:121768453 chr6:121768436 nonsynonymous SNV 0.945 2 hm6A_associated_SNPs_29206 1 Likely pathogenic Oculodentodigital dysplasia RCV000500645.1
2460 chr10 89692847 89692847 1 + T C CESC 89692863 + 89692843 89692883 41 CCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTC CCAACGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTC < 41bp 1 0.765332943624853 1 0.919301569461823 experiment 0.469334112750294 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 5 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692863 chr10:89692847 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_29273 1 Likely pathogenic not provided RCV000078613.4
2461 chr16 2138075 2138075 1 + G A CESC 2138067 + 2138047 2138087 41 AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG AGACATGGAGGGCCTTGTGGACACCAGCATGGCCAAGATCG < 41bp 1 0.620332970228807 1 0.984141051769257 experiment 0.759334059542386 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 29 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138067 chr16:2138075 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_29299 2 Likely benign not specified RCV000189942.2
2462 chr16 2138075 2138075 1 + G A CESC 2138067 + 2138047 2138087 41 AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG AGACATGGAGGGCCTTGTGGACACCAGCATGGCCAAGATCG < 41bp 1 0.620332970228807 1 0.984141051769257 experiment 0.759334059542386 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 29 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138067 chr16:2138075 nonsynonymous SNV 0.998 1 hm6A_associated_SNPs_29299 2 Uncertain significance Tuberous sclerosis 2 RCV000473026.1
2463 chr3 58134405 58134405 1 + G A CESC 58134407 + 58134387 58134427 41 ATCCCCCGGGAAGTGGGCGAACATCTGGTCAGCATCAAGAA ATCCCCCGGGAAGTGGGCAAACATCTGGTCAGCATCAAGAA < 41bp 1 0.276526057156753 1 0.425604641437531 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 19 FLNB ENSG00000136068 CDS Human protein_coding chr3:58134407 chr3:58134405 nonsynonymous SNV 0.742 5 hm6A_associated_SNPs_29322 1 Uncertain significance FLNB-Related Spectrum Disorders RCV000370591.1
2464 chr16 15788044 15788044 1 + G A CESC 15788045 + 15788025 15788065 41 TGGACGACTCCACCGGGGGGACCCCCCTCACACCTGCGGCC TGGACGACTCCACCGGGGGAACCCCCCTCACACCTGCGGCC < 41bp 1 0.0713248593663908 1 0.00419878959655762 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 20 NDE1 ENSG00000072864 CDS Human protein_coding chr16:15788045 chr16:15788044 synonymous SNV . 0 hm6A_associated_SNPs_29445 1 Likely benign not specified RCV000146497.1
2465 chr16 89985855 89985855 1 + C T CESC 89985863 + 89985843 89985883 41 GGTGGCCACCATCGCCAAGAACCGGAACCTGCACTCACCCA GGTGGCCACCATTGCCAAGAACCGGAACCTGCACTCACCCA < 41bp 1 0.741795557085836 1 0.975229144096375 experiment 0.516408885828329 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985863 chr16:89985855 synonymous SNV . 0 hm6A_associated_SNPs_29471 1 Likely benign Malignant Melanoma Susceptibility RCV000333479.1
2466 chr16 89985855 89985855 1 + C T CESC 89985869 + 89985849 89985889 41 CACCATCGCCAAGAACCGGAACCTGCACTCACCCATGTACT CACCATTGCCAAGAACCGGAACCTGCACTCACCCATGTACT < 41bp 1 0.699104529819984 1 0.967162430286407 experiment 0.601790940360032 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 7 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985869 chr16:89985855 synonymous SNV . 0 hm6A_associated_SNPs_29472 1 Likely benign Malignant Melanoma Susceptibility RCV000333479.1
2467 chr5 118865666 118865666 1 + A C CESC 118865664 + 118865644 118865684 41 CATCTGGTACTTCAGCTAAGACACCCTCTGAGGTAGGTTAT CATCTGGTACTTCAGCTAAGACCCCCTCTGAGGTAGGTTAT < 41bp 1 0.0849187028946883 1 0.587534368038177 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|31281898;GSE125240;m6A-REF-seq;liver;Control 23 HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118865664 chr5:118865666 synonymous SNV . 0 hm6A_associated_SNPs_29478 1 Uncertain significance not specified RCV000176159.1
2468 chr10 89692902 89692902 1 + G A CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGAACGAACTGGTGTAATGATATGTGCA < 41bp 1 0.344179639240002 1 0.873263597488403 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 16 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692902 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_29583 3 Pathogenic Cowden syndrome 1 RCV000008255.4
2469 chr10 89692902 89692902 1 + G A CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGAACGAACTGGTGTAATGATATGTGCA < 41bp 1 0.344179639240002 1 0.873263597488403 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 16 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692902 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_29583 3 Pathogenic not provided RCV000413815.1
2470 chr10 89692902 89692902 1 + G A CESC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGAACGAACTGGTGTAATGATATGTGCA < 41bp 1 0.344179639240002 1 0.873263597488403 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 16 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692902 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_29583 3 Pathogenic PTEN hamartoma tumor syndrome RCV000490577.1
2471 chr6 157256650 157256650 1 + C T CESC 157256656 + 157256636 157256676 41 CCTCCTCTGGCCCCCGGAAAACCTAACCATGAAGACTTGAA CCTCCTCTGGCCCCTGGAAAACCTAACCATGAAGACTTGAA < 41bp 1 0.0873073656242772 1 0.825454473495483 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157256656 chr6:157256650 synonymous SNV . 0 hm6A_associated_SNPs_29614 1 Uncertain significance not specified RCV000194008.1
2472 chr6 157256650 157256650 1 + C T CESC 157256661 + 157256641 157256681 41 TCTGGCCCCCGGAAAACCTAACCATGAAGACTTGAACTTAA TCTGGCCCCTGGAAAACCTAACCATGAAGACTTGAACTTAA < 41bp 1 0.133177667987794 1 0.852914869785309 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 10 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157256661 chr6:157256650 synonymous SNV . 0 hm6A_associated_SNPs_29615 1 Uncertain significance not specified RCV000194008.1
2473 chr20 17950958 17950958 1 + G A CESC 17950961 + 17950941 17950981 41 TTCTTGTTGGAGAGGTGGAAACAGCGGATGATTCTGGAACT TTCTTGTTGGAGAGGTGAAAACAGCGGATGATTCTGGAACT < 41bp 1 0.786829496384303 1 0.989571452140808 experiment 0.426341007231395 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 18 MGME1 ENSG00000125871 CDS Human protein_coding chr20:17950961 chr20:17950958 stopgain 1.000 1 hm6A_associated_SNPs_30020 1 Pathogenic Mitochondrial DNA depletion syndrome 11 RCV000033150.2
2474 chr16 2129355 2129355 1 + G A CESC 2129336 + 2129316 2129356 41 CAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGA CAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACAA < 41bp 1 0.707196516997616 1 0.904449701309204 experiment 0.585606966004768 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 40 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2129336 chr16:2129355 synonymous SNV . 0 hm6A_associated_SNPs_30068 2 Uncertain significance Tuberous sclerosis syndrome RCV000291968.1
2475 chr16 2129355 2129355 1 + G A CESC 2129336 + 2129316 2129356 41 CAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACGA CAAAACCTGGCTGGTTGGGAACAAGCTTGTCACTGTGACAA < 41bp 1 0.707196516997616 1 0.904449701309204 experiment 0.585606966004768 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 40 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2129336 chr16:2129355 synonymous SNV . 0 hm6A_associated_SNPs_30068 2 Likely benign Tuberous sclerosis 2 RCV000460916.1
2476 chrX 149828859 149828859 1 + G A CESC 149828870 + 149828850 149828890 41 ACAGCTTTTGAATTCAATGAACAATTTTTGATTATAATTTT ACAGCTTTTAAATTCAATGAACAATTTTTGATTATAATTTT < 41bp 1 0.590585587600101 1 0.0655276775360107 experiment 0.818828824799798 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 MTM1 ENSG00000171100 CDS Human protein_coding chrX:149828870 chrX:149828859 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_30271 1 Uncertain significance not specified RCV000078431.4
2477 chr15 80454635 80454635 1 + G A CESC 80454651 + 80454631 80454671 41 CGTCGGAATCATGTTCAGGGACAAGGAGAATGCGTTGATGC CGTCAGAATCATGTTCAGGGACAAGGAGAATGCGTTGATGC < 41bp 1 0.65452826852875 1 0.913241326808929 experiment 0.690943462942499 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 5 FAH ENSG00000103876 CDS Human protein_coding chr15:80454651 chr15:80454635 nonsynonymous SNV 0.169 5 hm6A_associated_SNPs_30428 1 Uncertain significance not specified RCV000373443.1
2478 chr4 5733317 5733317 1 + G A COAD 5733321 + 5733301 5733341 41 CCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCT CCACTCGGCCACCAGCAATGACAGGTTTCTCAGCCGCACCT < 41bp 1 0.409684962545973 1 0.804070591926575 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 17 EVC ENSG00000072840 CDS Human protein_coding chr4:5733321 chr4:5733317 nonsynonymous SNV 0.017 1 hm6A_associated_SNPs_30705 3 Likely benign Ellis-van Creveld Syndrome RCV000334802.1
2479 chr4 5733317 5733317 1 + G A COAD 5733321 + 5733301 5733341 41 CCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCT CCACTCGGCCACCAGCAATGACAGGTTTCTCAGCCGCACCT < 41bp 1 0.409684962545973 1 0.804070591926575 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 17 EVC ENSG00000072840 CDS Human protein_coding chr4:5733321 chr4:5733317 nonsynonymous SNV 0.017 1 hm6A_associated_SNPs_30705 3 Uncertain significance not specified RCV000338275.1
2480 chr4 5733317 5733317 1 + G A COAD 5733321 + 5733301 5733341 41 CCACTCGGCCACCAGCGATGACAGGTTTCTCAGCCGCACCT CCACTCGGCCACCAGCAATGACAGGTTTCTCAGCCGCACCT < 41bp 1 0.409684962545973 1 0.804070591926575 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 17 EVC ENSG00000072840 CDS Human protein_coding chr4:5733321 chr4:5733317 nonsynonymous SNV 0.017 1 hm6A_associated_SNPs_30705 3 Likely benign Curry-Hall syndrome RCV000391771.1
2481 chr18 29116266 29116266 1 + G A COAD 29116254 + 29116234 29116274 41 CACTGATAGAGCCTGTGCAGACAATCTGTCACGATGCAGAG CACTGATAGAGCCTGTGCAGACAATCTGTCACAATGCAGAG < 41bp 1 0.732871491372626 1 0.960250973701477 experiment 0.534257017254747 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 33 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29116254 chr18:29116266 nonsynonymous SNV 0.003 0 hm6A_associated_SNPs_30711 1 Uncertain significance not specified RCV000216245.1
2482 chr2 207632019 207632019 1 + G A COAD 207632010 + 207631990 207632030 41 TGCCAAAAGACTGTCTGATGACCAGAAGCGCTTTGAAAAAC TGCCAAAAGACTGTCTGATGACCAGAAGCACTTTGAAAAAC < 41bp 1 0.507583246100479 1 0.98308002948761 experiment 0.984833507799042 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207632010 chr2:207632019 nonsynonymous SNV 0.979 3 hm6A_associated_SNPs_30728 2 Uncertain significance not specified RCV000196704.2
2483 chr2 207632019 207632019 1 + G A COAD 207632010 + 207631990 207632030 41 TGCCAAAAGACTGTCTGATGACCAGAAGCGCTTTGAAAAAC TGCCAAAAGACTGTCTGATGACCAGAAGCACTTTGAAAAAC < 41bp 1 0.507583246100479 1 0.98308002948761 experiment 0.984833507799042 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207632010 chr2:207632019 nonsynonymous SNV 0.979 3 hm6A_associated_SNPs_30728 2 Uncertain significance Cytochrome-c oxidase deficiency RCV000354451.1
2484 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000417519.1
2485 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Adenocarcinoma of stomach RCV000418364.1
2486 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Malignant neoplasm of body of uterus RCV000425096.1
2487 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Uterine Carcinosarcoma RCV000425789.1
2488 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000431282.1
2489 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Colorectal Neoplasms RCV000435193.1
2490 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Neoplasm of the breast RCV000436040.1
2491 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Adenocarcinoma of lung RCV000441538.1
2492 chr19 52715982 52715982 1 + C T COAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGTGGG < 41bp 1 0.540434100863425 1 0.0788851678371429 experiment 0.91913179827315 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 38 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715982 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_30915 9 Likely pathogenic Adenocarcinoma of prostate RCV000443336.1
2493 chr5 235370 235370 1 + C T COAD 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGT < 41bp 1 0.627022957457119 1 0.928870320320129 experiment 0.745954085085762 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 41 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235370 synonymous SNV . 0 hm6A_associated_SNPs_30924 2 Uncertain significance Mitochondrial complex II deficiency RCV000461984.1
2494 chr5 235370 235370 1 + C T COAD 235350 + 235330 235370 41 GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGC GCCTGCCTGGCATTTCAGAGACAGCCATGATCTTCGCTGGT < 41bp 1 0.627022957457119 1 0.928870320320129 experiment 0.745954085085762 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 41 SDHA ENSG00000073578 CDS Human protein_coding chr5:235350 chr5:235370 synonymous SNV . 0 hm6A_associated_SNPs_30924 2 Uncertain significance Paragangliomas 5 RCV000461984.1
2495 chr10 89720823 89720823 1 + T G COAD 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCGTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT < 41bp 1 0.790338263937147 1 0.961088538169861 experiment 0.419323472125706 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720823 nonsynonymous SNV 0.999 3 hm6A_associated_SNPs_31007 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000491769.1
2496 chr13 32907453 32907453 1 + T G COAD 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACGAATTAACTGTTCAGCCCA Direct Loss 1 0.682017249483423 1 0.9766725897789 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907453 nonsynonymous SNV 0.246 1 hm6A_associated_SNPs_31152 4 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000122900.5
2497 chr13 32907453 32907453 1 + T G COAD 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACGAATTAACTGTTCAGCCCA Direct Loss 1 0.682017249483423 1 0.9766725897789 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907453 nonsynonymous SNV 0.246 1 hm6A_associated_SNPs_31152 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000129425.3
2498 chr13 32907453 32907453 1 + T G COAD 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACGAATTAACTGTTCAGCCCA Direct Loss 1 0.682017249483423 1 0.9766725897789 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907453 nonsynonymous SNV 0.246 1 hm6A_associated_SNPs_31152 4 Likely benign not specified RCV000221850.2
2499 chr13 32907453 32907453 1 + T G COAD 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACGAATTAACTGTTCAGCCCA Direct Loss 1 0.682017249483423 1 0.9766725897789 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 23 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907453 nonsynonymous SNV 0.246 1 hm6A_associated_SNPs_31152 4 other Breast-ovarian cancer, familial 2 RCV000238635.1
2500 chr5 131953803 131953803 1 + G T COAD 131953791 + 131953771 131953811 41 GAAGTTGGAAGAGAACATAGACAATATAAAAAGAAATCATA GAAGTTGGAAGAGAACATAGACAATATAAAAATAAATCATA < 41bp 1 0.768444426213414 1 0.223611444234848 experiment 0.463111147573172 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 33 RAD50 ENSG00000113522 CDS Human protein_coding chr5:131953791 chr5:131953803 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_31257 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000219668.1
2501 chr11 108163425 108163425 1 + G A COAD 108163419 + 108163399 108163439 41 TATTAAGTCAGGTTTGCCAGACAGCCGTGACTTACTGTAAG TATTAAGTCAGGTTTGCCAGACAGCCATGACTTACTGTAAG < 41bp 1 0.40573144557803 1 0.651783049106598 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 27 ATM ENSG00000149311 CDS Human protein_coding chr11:108163419 chr11:108163425 nonsynonymous SNV 0.992 3 hm6A_associated_SNPs_31484 2 Uncertain significance Ataxia-telangiectasia syndrome RCV000196341.1
2502 chr11 108163425 108163425 1 + G A COAD 108163419 + 108163399 108163439 41 TATTAAGTCAGGTTTGCCAGACAGCCGTGACTTACTGTAAG TATTAAGTCAGGTTTGCCAGACAGCCATGACTTACTGTAAG < 41bp 1 0.40573144557803 1 0.651783049106598 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 27 ATM ENSG00000149311 CDS Human protein_coding chr11:108163419 chr11:108163425 nonsynonymous SNV 0.992 3 hm6A_associated_SNPs_31484 2 Uncertain significance not specified RCV000236242.1
2503 chr10 89653834 89653834 1 + C T COAD 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTCCTGCAGAAAGACTTGAAGGTGTATACAGGAA < 41bp 1 0.400671007563593 1 0.892938792705536 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 30 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653834 synonymous SNV . 0 hm6A_associated_SNPs_31799 3 Benign not specified RCV000078606.4
2504 chr10 89653834 89653834 1 + C T COAD 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTCCTGCAGAAAGACTTGAAGGTGTATACAGGAA < 41bp 1 0.400671007563593 1 0.892938792705536 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 30 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653834 synonymous SNV . 0 hm6A_associated_SNPs_31799 3 other PTEN hamartoma tumor syndrome RCV000123045.5
2505 chr10 89653834 89653834 1 + C T COAD 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTCCTGCAGAAAGACTTGAAGGTGTATACAGGAA < 41bp 1 0.400671007563593 1 0.892938792705536 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 30 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653834 synonymous SNV . 0 hm6A_associated_SNPs_31799 3 Likely benign Hereditary cancer-predisposing syndrome RCV000162387.1
2506 chr10 89653834 89653834 1 + C T COAD 89653845 + 89653825 89653865 41 ACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAA ACTTGAAGGTGTATACAGGAACAATATTGATGATGTAGTAA < 41bp 1 0.703413317452383 1 0.750306665897369 experiment 0.593173365095235 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653845 chr10:89653834 synonymous SNV . 0 hm6A_associated_SNPs_31800 3 Benign not specified RCV000078606.4
2507 chr10 89653834 89653834 1 + C T COAD 89653845 + 89653825 89653865 41 ACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAA ACTTGAAGGTGTATACAGGAACAATATTGATGATGTAGTAA < 41bp 1 0.703413317452383 1 0.750306665897369 experiment 0.593173365095235 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653845 chr10:89653834 synonymous SNV . 0 hm6A_associated_SNPs_31800 3 other PTEN hamartoma tumor syndrome RCV000123045.5
2508 chr10 89653834 89653834 1 + C T COAD 89653845 + 89653825 89653865 41 ACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAA ACTTGAAGGTGTATACAGGAACAATATTGATGATGTAGTAA < 41bp 1 0.703413317452383 1 0.750306665897369 experiment 0.593173365095235 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653845 chr10:89653834 synonymous SNV . 0 hm6A_associated_SNPs_31800 3 Likely benign Hereditary cancer-predisposing syndrome RCV000162387.1
2509 chr16 47684459 47684459 1 + C T COAD 47684475 + 47684455 47684495 41 AATGCGCTGCAGTTCATTAAACAATATTGGAAAATGCATGG AATGTGCTGCAGTTCATTAAACAATATTGGAAAATGCATGG < 41bp 1 0.633979085594569 1 0.00794172286987305 experiment 0.732041828810862 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 5 PHKB ENSG00000102893 CDS Human protein_coding chr16:47684475 chr16:47684459 nonsynonymous SNV 0.933 3 hm6A_associated_SNPs_31815 1 Uncertain significance Glycogen phosphorylase kinase deficiency RCV000347537.1
2510 chr2 48027887 48027887 1 + G A COAD 48027872 + 48027852 48027892 41 CCGATGGGATACAGCCTTTGACCATGAAAAGGCTCGAAAGA CCGATGGGATACAGCCTTTGACCATGAAAAGGCTCAAAAGA < 41bp 1 0.799060793104008 1 0.99621844291687 experiment 0.401878413791984 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31548708;GSE125780;DART-seq;HEK293T;Control 36 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027872 chr2:48027887 nonsynonymous SNV 0.994 2 hm6A_associated_SNPs_31881 2 Uncertain significance Lynch syndrome RCV000461564.1
2511 chr2 48027887 48027887 1 + G A COAD 48027872 + 48027852 48027892 41 CCGATGGGATACAGCCTTTGACCATGAAAAGGCTCGAAAGA CCGATGGGATACAGCCTTTGACCATGAAAAGGCTCAAAAGA < 41bp 1 0.799060793104008 1 0.99621844291687 experiment 0.401878413791984 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31548708;GSE125780;DART-seq;HEK293T;Control 36 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027872 chr2:48027887 nonsynonymous SNV 0.994 2 hm6A_associated_SNPs_31881 2 Uncertain significance not specified RCV000487150.1
2512 chr13 77569310 77569310 1 + C T COAD 77569296 + 77569276 77569316 41 AGTTATGGAGGGTGATGATGACATTGAAGTTTTTCGATTAC AGTTATGGAGGGTGATGATGACATTGAAGTTTTTTGATTAC < 41bp 1 0.705264144040872 1 0.306141942739487 experiment 0.589471711918255 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 35 CLN5 ENSG00000102805 CDS Human protein_coding chr13:77569296 chr13:77569310 stopgain 0.993 1 hm6A_associated_SNPs_31897 1 Likely pathogenic Ceroid lipofuscinosis neuronal 5 RCV000049947.2
2513 chr18 48575150 48575150 1 + G A COAD 48575130 + 48575110 48575150 41 CCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTG CCTGATCTTCACAAAAATGAACTAAAACATGTTAAATATTA < 41bp 1 0.6763466867395 1 0.722124814987183 experiment 0.647306626520999 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 41 SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48575130 chr18:48575150 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_32133 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000220136.1
2514 chr18 48575150 48575150 1 + G A COAD 48575136 + 48575116 48575156 41 CTTCACAAAAATGAACTAAAACATGTTAAATATTGTCAGTA CTTCACAAAAATGAACTAAAACATGTTAAATATTATCAGTA < 41bp 1 0.65298714586383 1 0.554865181446075 experiment 0.69402570827234 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 35 SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48575136 chr18:48575150 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_32134 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000220136.1
2515 chr18 48575150 48575150 1 + G A COAD 48575165 + 48575145 48575185 41 ATATTGTCAGTATGCGTTTGACTTAAAATGTGATAGTGTCT ATATTATCAGTATGCGTTTGACTTAAAATGTGATAGTGTCT < 41bp 1 0.615627112512065 1 0.611185252666473 experiment 0.768745774975869 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 6 SMAD4 ENSG00000141646 CDS Human protein_coding chr18:48575165 chr18:48575150 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_32135 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000220136.1
2516 chr1 227172602 227172602 1 + C T COAD 227172614 + 227172594 227172634 41 TGGGGCAACGCGGGAATATGACAGATCCTTCACCGACCTCT TGGGGCAATGCGGGAATATGACAGATCCTTCACCGACCTCT < 41bp 1 0.255960316437207 1 0.4427170753479 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 9 COQ8A ENSG00000163050 CDS Human protein_coding chr1:227172614 chr1:227172602 nonsynonymous SNV 0.453 4 hm6A_associated_SNPs_32163 1 Likely pathogenic Coenzyme Q10 deficiency, primary, 4 RCV000194388.1
2517 chr5 138665061 138665061 1 + C T COAD 138665066 + 138665046 138665086 41 AAATTGGCAGAAGAACGCAGACAGAAGAAGGAAACTTAAGA AAATTGGCAGAAGAATGCAGACAGAAGAAGGAAACTTAAGA < 41bp 1 0.667998670832464 1 0.550790727138519 experiment 0.664002658335072 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 16 MATR3 ENSG00000015479 CDS Human protein_coding chr5:138665066 chr5:138665061 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_32297 1 Uncertain significance Distal myopathy RCV000400277.1
2518 chr5 138665061 138665061 1 + C T COAD 138665079 + 138665059 138665099 41 AACGCAGACAGAAGAAGGAAACTTAAGATGTGCAAGGAGAT AATGCAGACAGAAGAAGGAAACTTAAGATGTGCAAGGAGAT < 41bp 1 0.598587697621795 1 0.406248569488525 experiment 0.802824604756411 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 3 MATR3 ENSG00000015479 CDS Human protein_coding chr5:138665079 chr5:138665061 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_32298 1 Uncertain significance Distal myopathy RCV000400277.1
2519 chr5 90136423 90136423 1 + G A COAD 90136413 + 90136393 90136433 41 AGGAGTTGAGGAGTGCTGAAACAATTGGTCGTACCATCATA AGGAGTTGAGGAGTGCTGAAACAATTGGTCATACCATCATA < 41bp 1 0.0862297288059615 1 0.110272258520126 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 31 ADGRV1 ENSG00000164199 CDS Human protein_coding chr5:90136413 chr5:90136423 nonsynonymous SNV 0.186 1 hm6A_associated_SNPs_32419 1 Uncertain significance not specified RCV000215082.1
2520 chr22 41513540 41513540 1 + G A COAD 41513522 + 41513502 41513542 41 ATGGGGATGGGCACTAGTGGACCAAATCAGGGTCCTACGCA ATGGGGATGGGCACTAGTGGACCAAATCAGGGTCCTACACA < 41bp 1 0.789342203843894 1 0.746936321258545 experiment 0.421315592312212 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 39 EP300 ENSG00000100393 CDS Human protein_coding chr22:41513522 chr22:41513540 synonymous SNV . 0 hm6A_associated_SNPs_32492 1 Likely benign Rubinstein-Taybi syndrome RCV000279884.1
2521 chr21 47551894 47551894 1 + C T COAD 47551904 + 47551884 47551924 41 GTGCACGCAGCGGCCCGTGGACATCGTCTTCCTGCTGGACG GTGCACGCAGTGGCCCGTGGACATCGTCTTCCTGCTGGACG < 41bp 1 0.544907456338945 1 0.962514877319336 experiment 0.910185087322109 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 11 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47551904 chr21:47551894 nonsynonymous SNV 0.980 4 hm6A_associated_SNPs_32505 1 Uncertain significance not specified RCV000357521.1
2522 chr16 30750658 30750658 1 + C T COAD 30750639 + 30750619 30750659 41 GGTGGCTGTAATTCAGGATGACCTGGACTTAGCAGATAGCG GGTGGCTGTAATTCAGGATGACCTGGACTTAGCAGATAGTG < 41bp 1 0.69719172557648 1 0.997728049755096 experiment 0.60561654884704 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 40 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30750639 chr16:30750658 synonymous SNV . 0 hm6A_associated_SNPs_32737 1 Uncertain significance Floating-Harbor syndrome RCV000371630.1
2523 chr3 158369971 158369971 1 + A G COAD 158369981 + 158369961 158370001 41 TGTGTTGCCAATTCAGATGAACAGCTTGGTGAGATGTTTCT TGTGTTGCCAGTTCAGATGAACAGCTTGGTGAGATGTTTCT < 41bp 1 0.653683052204069 1 0.669541358947754 experiment 0.692633895591861 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 11 GFM1 ENSG00000168827 CDS Human protein_coding chr3:158369981 chr3:158369971 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_32871 1 Likely pathogenic not provided RCV000489339.1
2524 chr19 52716329 52716329 1 + G A COAD 52716317 + 52716297 52716337 41 TCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCT TCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCACGTCCGCT < 41bp 1 0.793869779423263 1 0.9238600730896 experiment 0.412260441153474 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 33 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52716317 chr19:52716329 nonsynonymous SNV 0.927 4 hm6A_associated_SNPs_32873 2 Pathogenic Mental retardation, autosomal dominant 36 RCV000201504.1
2525 chr19 52716329 52716329 1 + G A COAD 52716317 + 52716297 52716337 41 TCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCGCGTCCGCT TCTGCGCCAGGCCGCTGAAGACAAGTCCTGGCACGTCCGCT < 41bp 1 0.793869779423263 1 0.9238600730896 experiment 0.412260441153474 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 33 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52716317 chr19:52716329 nonsynonymous SNV 0.927 4 hm6A_associated_SNPs_32873 2 Pathogenic not provided RCV000374748.1
2526 chrX 48340877 48340877 1 + C T COAD 48340875 + 48340855 48340895 41 CCTGAGCTCCTATGATTCGGACCGCAGTTACCCACTGGACG CCTGAGCTCCTATGATTCGGACTGCAGTTACCCACTGGACG < 41bp 1 0.267253621514873 1 0.981932044029236 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 FTSJ1 ENSG00000068438 CDS Human protein_coding chrX:48340875 chrX:48340877 nonsynonymous SNV 0.858 0 hm6A_associated_SNPs_33023 1 Uncertain significance Mental retardation 9, X-linked RCV000496850.1
2527 chr5 235427 235427 1 + C T COAD 235420 + 235400 235440 41 CCTCCCCACCGTGCATTATAACATGGGCGGCATTCCCACCA CCTCCCCACCGTGCATTATAACATGGGTGGCATTCCCACCA < 41bp 1 0.763508311753756 1 0.919049501419067 experiment 0.472983376492488 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 28 SDHA ENSG00000073578 CDS Human protein_coding chr5:235420 chr5:235427 synonymous SNV . 0 hm6A_associated_SNPs_33093 2 Likely benign Mitochondrial complex II deficiency RCV000468789.1
2528 chr5 235427 235427 1 + C T COAD 235420 + 235400 235440 41 CCTCCCCACCGTGCATTATAACATGGGCGGCATTCCCACCA CCTCCCCACCGTGCATTATAACATGGGTGGCATTCCCACCA < 41bp 1 0.763508311753756 1 0.919049501419067 experiment 0.472983376492488 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 28 SDHA ENSG00000073578 CDS Human protein_coding chr5:235420 chr5:235427 synonymous SNV . 0 hm6A_associated_SNPs_33093 2 Likely benign Paragangliomas 5 RCV000468789.1
2529 chr6 35423873 35423873 1 + C T COAD 35423853 + 35423833 35423873 41 TGAAGAAGAGGAGAACAGGGACTCCCAGCAGCCTGGGAAAC TGAAGAAGAGGAGAACAGGGACTCCCAGCAGCCTGGGAAAT < 41bp 1 0.752976339802059 1 0.993689239025116 experiment 0.494047320395882 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 41 FANCE ENSG00000112039 CDS Human protein_coding chr6:35423853 chr6:35423873 nonsynonymous SNV 0.296 2 hm6A_associated_SNPs_33220 1 Likely pathogenic Carcinoma of colon RCV000416904.1
2530 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Transitional cell carcinoma of the bladder RCV000420132.1
2531 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Colorectal Neoplasms RCV000423241.1
2532 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Medulloblastoma RCV000424341.1
2533 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Adenocarcinoma of lung RCV000428518.1
2534 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Malignant neoplasm of body of uterus RCV000430905.1
2535 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Malignant melanoma of skin RCV000433324.1
2536 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Pancreatic adenocarcinoma RCV000433966.1
2537 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Adenocarcinoma of stomach RCV000439171.1
2538 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Oesophageal carcinoma RCV000440476.1
2539 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Hepatocellular carcinoma RCV000441600.1
2540 chr3 41266100 41266100 1 + T G COAD 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACGCTGGAATCCATTCTGGTG Direct Loss 1 0.566910653021723 1 0.887292563915253 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266100 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_33287 11 Likely pathogenic Adenocarcinoma of prostate RCV000443586.1
2541 chr3 37038192 37038192 1 + G A COAD 37038181 + 37038161 37038201 41 GAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGG GAAGTTGATTCAGATCCAAGACAATGGCACCAGGATCAGGG < 41bp 1 0.784891521643038 1 0.017855167388916 experiment 0.430216956713924 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 32 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37038181 chr3:37038192 nonsynonymous SNV 0.974 5 hm6A_associated_SNPs_33520 3 Pathogenic Lynch syndrome RCV000075474.3
2542 chr3 37038192 37038192 1 + G A COAD 37038181 + 37038161 37038201 41 GAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGG GAAGTTGATTCAGATCCAAGACAATGGCACCAGGATCAGGG < 41bp 1 0.784891521643038 1 0.017855167388916 experiment 0.430216956713924 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 32 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37038181 chr3:37038192 nonsynonymous SNV 0.974 5 hm6A_associated_SNPs_33520 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000128871.5
2543 chr3 37038192 37038192 1 + G A COAD 37038181 + 37038161 37038201 41 GAAGTTGATTCAGATCCAAGACAATGGCACCGGGATCAGGG GAAGTTGATTCAGATCCAAGACAATGGCACCAGGATCAGGG < 41bp 1 0.784891521643038 1 0.017855167388916 experiment 0.430216956713924 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 32 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37038181 chr3:37038192 nonsynonymous SNV 0.974 5 hm6A_associated_SNPs_33520 3 Pathogenic not provided RCV000202032.2
2544 chr2 47656912 47656912 1 + G A COAD 47656927 + 47656907 47656947 41 AAGATGCAGAATTGAGGCAGACTTTACAAGAAGATTTACTT AAGATACAGAATTGAGGCAGACTTTACAAGAAGATTTACTT < 41bp 1 0.261525174511286 1 0.842138051986694 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 6 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47656927 chr2:47656912 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_33553 1 Uncertain significance not specified RCV000480197.1
2545 chr5 149360216 149360216 1 + G T COAD 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTTTGGAAAACTACATTAAAATTATAATTC < 41bp 1 0.655867870083907 1 0.287713229656219 experiment 0.688264259832186 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360216 stopgain 0.975 0 hm6A_associated_SNPs_33590 4 Likely pathogenic Atelosteogenesis type 2 RCV000409259.1
2546 chr5 149360216 149360216 1 + G T COAD 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTTTGGAAAACTACATTAAAATTATAATTC < 41bp 1 0.655867870083907 1 0.287713229656219 experiment 0.688264259832186 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360216 stopgain 0.975 0 hm6A_associated_SNPs_33590 4 Likely pathogenic Achondrogenesis, type IB RCV000410391.1
2547 chr5 149360216 149360216 1 + G T COAD 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTTTGGAAAACTACATTAAAATTATAATTC < 41bp 1 0.655867870083907 1 0.287713229656219 experiment 0.688264259832186 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360216 stopgain 0.975 0 hm6A_associated_SNPs_33590 4 Likely pathogenic Diastrophic dysplasia RCV000410579.1
2548 chr5 149360216 149360216 1 + G T COAD 149360209 + 149360189 149360229 41 TTAGCCTCTCATTTTGGAAAACTACATGAAAATTATAATTC TTAGCCTCTCATTTTGGAAAACTACATTAAAATTATAATTC < 41bp 1 0.655867870083907 1 0.287713229656219 experiment 0.688264259832186 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 28 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149360209 chr5:149360216 stopgain 0.975 0 hm6A_associated_SNPs_33590 4 Likely pathogenic Multiple epiphyseal dysplasia 4 RCV000411229.1
2549 chr13 48955550 48955550 1 + C T COAD 48955546 + 48955526 48955566 41 AAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCT AAACATTTAGAACGATGTGAACATTGAATCATGGAATCCCT < 41bp 1 0.626155090948252 1 0.827420949935913 experiment 0.747689818103496 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 25 RB1 ENSG00000139687 CDS Human protein_coding chr13:48955546 chr13:48955550 stopgain 1.000 1 hm6A_associated_SNPs_33723 4 Pathogenic Retinoblastoma, trilateral RCV000013966.2
2550 chr13 48955550 48955550 1 + C T COAD 48955546 + 48955526 48955566 41 AAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCT AAACATTTAGAACGATGTGAACATTGAATCATGGAATCCCT < 41bp 1 0.626155090948252 1 0.827420949935913 experiment 0.747689818103496 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 25 RB1 ENSG00000139687 CDS Human protein_coding chr13:48955546 chr13:48955550 stopgain 1.000 1 hm6A_associated_SNPs_33723 4 Pathogenic Retinoblastoma RCV000114734.1
2551 chr13 48955550 48955550 1 + C T COAD 48955546 + 48955526 48955566 41 AAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCT AAACATTTAGAACGATGTGAACATTGAATCATGGAATCCCT < 41bp 1 0.626155090948252 1 0.827420949935913 experiment 0.747689818103496 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 25 RB1 ENSG00000139687 CDS Human protein_coding chr13:48955546 chr13:48955550 stopgain 1.000 1 hm6A_associated_SNPs_33723 4 Likely pathogenic Neoplasm RCV000430238.1
2552 chr13 48955550 48955550 1 + C T COAD 48955546 + 48955526 48955566 41 AAACATTTAGAACGATGTGAACATCGAATCATGGAATCCCT AAACATTTAGAACGATGTGAACATTGAATCATGGAATCCCT < 41bp 1 0.626155090948252 1 0.827420949935913 experiment 0.747689818103496 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 25 RB1 ENSG00000139687 CDS Human protein_coding chr13:48955546 chr13:48955550 stopgain 1.000 1 hm6A_associated_SNPs_33723 4 Pathogenic Hereditary cancer-predisposing syndrome RCV000492084.1
2553 chr2 179403770 179403770 1 + G A COAD 179403754 + 179403734 179403774 41 ATTCTGTGCGATGATGCGGAACTGATACTCAGCATCGGGAA ATTCTGTGCGATGATGCGGAACTGATACTCAGCATCAGGAA < 41bp 1 0.508409638656412 1 0.97991144657135 experiment 0.983180722687176 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 37 TTN ENSG00000155657 CDS Human protein_coding chr2:179403754 chr2:179403770 synonymous SNV . 0 hm6A_associated_SNPs_33846 2 other not specified RCV000154881.3
2554 chr2 179403770 179403770 1 + G A COAD 179403754 + 179403734 179403774 41 ATTCTGTGCGATGATGCGGAACTGATACTCAGCATCGGGAA ATTCTGTGCGATGATGCGGAACTGATACTCAGCATCAGGAA < 41bp 1 0.508409638656412 1 0.97991144657135 experiment 0.983180722687176 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 37 TTN ENSG00000155657 CDS Human protein_coding chr2:179403754 chr2:179403770 synonymous SNV . 0 hm6A_associated_SNPs_33846 2 Likely benign Cardiovascular phenotype RCV000249130.1
2555 chr2 179403770 179403770 1 + G A COAD 179403774 + 179403754 179403794 41 ACTGATACTCAGCATCGGGAACAAGCCCTGTGACAGTGTAC ACTGATACTCAGCATCAGGAACAAGCCCTGTGACAGTGTAC < 41bp 1 0.738652718376209 1 0.956810116767883 experiment 0.522694563247582 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 17 TTN ENSG00000155657 CDS Human protein_coding chr2:179403774 chr2:179403770 synonymous SNV . 0 hm6A_associated_SNPs_33847 2 other not specified RCV000154881.3
2556 chr2 179403770 179403770 1 + G A COAD 179403774 + 179403754 179403794 41 ACTGATACTCAGCATCGGGAACAAGCCCTGTGACAGTGTAC ACTGATACTCAGCATCAGGAACAAGCCCTGTGACAGTGTAC < 41bp 1 0.738652718376209 1 0.956810116767883 experiment 0.522694563247582 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 17 TTN ENSG00000155657 CDS Human protein_coding chr2:179403774 chr2:179403770 synonymous SNV . 0 hm6A_associated_SNPs_33847 2 Likely benign Cardiovascular phenotype RCV000249130.1
2557 chr2 179403770 179403770 1 + G A COAD 179403786 + 179403766 179403806 41 CATCGGGAACAAGCCCTGTGACAGTGTACATTGTGGTGGTG CATCAGGAACAAGCCCTGTGACAGTGTACATTGTGGTGGTG < 41bp 1 0.744450159425873 1 0.930833697319031 experiment 0.511099681148254 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 5 TTN ENSG00000155657 CDS Human protein_coding chr2:179403786 chr2:179403770 synonymous SNV . 0 hm6A_associated_SNPs_33848 2 other not specified RCV000154881.3
2558 chr2 179403770 179403770 1 + G A COAD 179403786 + 179403766 179403806 41 CATCGGGAACAAGCCCTGTGACAGTGTACATTGTGGTGGTG CATCAGGAACAAGCCCTGTGACAGTGTACATTGTGGTGGTG < 41bp 1 0.744450159425873 1 0.930833697319031 experiment 0.511099681148254 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 5 TTN ENSG00000155657 CDS Human protein_coding chr2:179403786 chr2:179403770 synonymous SNV . 0 hm6A_associated_SNPs_33848 2 Likely benign Cardiovascular phenotype RCV000249130.1
2559 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Colorectal Neoplasms RCV000422802.1
2560 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000423896.1
2561 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Malignant lymphoma, non-Hodgkin RCV000426129.1
2562 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Malignant melanoma of skin RCV000430927.1
2563 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Multiple myeloma RCV000432370.1
2564 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Adenocarcinoma of lung RCV000433517.1
2565 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000433775.1
2566 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Adenocarcinoma of stomach RCV000441172.1
2567 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Small cell lung cancer RCV000442543.1
2568 chr15 45003747 45003747 1 + G A COAD 45003728 + 45003708 45003748 41 GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATGT GGCGGGCATTCCTGAAGCTGACAGCATTCGGGCCGAGATAT < 41bp 1 0.295716674293712 1 0.437320679426193 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 B2M ENSG00000166710 CDS Human protein_coding chr15:45003728 chr15:45003747 nonsynonymous SNV 0.061 1 hm6A_associated_SNPs_33930 10 Likely pathogenic Squamous cell carcinoma of lung RCV000442680.1
2569 chr7 116371857 116371857 1 + A G COAD 116371839 + 116371819 116371859 41 AATTCAGCGAAGTCCTCTTAACATCTATATCCACCTTCATT AATTCAGCGAAGTCCTCTTAACATCTATATCCACCTTCGTT < 41bp 1 0.707278805707632 1 0.192263543605804 experiment 0.585442388584736 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 39 MET ENSG00000105976 CDS Human protein_coding chr7:116371839 chr7:116371857 nonsynonymous SNV 0.848 0 hm6A_associated_SNPs_34034 1 Uncertain significance Renal cell carcinoma, papillary, 1 RCV000239364.2
2570 chr9 137716529 137716529 1 + C T COAD 137716546 + 137716526 137716566 41 GGACGACGGGAATGGCGAGAACTACGTGGACTACGCGGACG GGATGACGGGAATGGCGAGAACTACGTGGACTACGCGGACG < 41bp 1 0.344393024581845 1 0.99139940738678 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137716546 chr9:137716529 synonymous SNV . 0 hm6A_associated_SNPs_34078 1 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000244880.1
2571 chr11 108206648 108206648 1 + C T COAD 108206645 + 108206625 108206665 41 TAATACATTACTGCAGAGAAACACGGAAACTAGGAAGAGGA TAATACATTACTGCAGAGAAACATGGAAACTAGGAAGAGGA < 41bp 1 0.650240593976554 1 0.0317628085613251 experiment 0.699518812046893 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 ATM ENSG00000149311 CDS Human protein_coding chr11:108206645 chr11:108206648 nonsynonymous SNV 0.936 3 hm6A_associated_SNPs_34211 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000159657.4
2572 chr11 108206648 108206648 1 + C T COAD 108206645 + 108206625 108206665 41 TAATACATTACTGCAGAGAAACACGGAAACTAGGAAGAGGA TAATACATTACTGCAGAGAAACATGGAAACTAGGAAGAGGA < 41bp 1 0.650240593976554 1 0.0317628085613251 experiment 0.699518812046893 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 ATM ENSG00000149311 CDS Human protein_coding chr11:108206645 chr11:108206648 nonsynonymous SNV 0.936 3 hm6A_associated_SNPs_34211 4 Uncertain significance Ataxia-telangiectasia syndrome RCV000206677.2
2573 chr11 108206648 108206648 1 + C T COAD 108206645 + 108206625 108206665 41 TAATACATTACTGCAGAGAAACACGGAAACTAGGAAGAGGA TAATACATTACTGCAGAGAAACATGGAAACTAGGAAGAGGA < 41bp 1 0.650240593976554 1 0.0317628085613251 experiment 0.699518812046893 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 ATM ENSG00000149311 CDS Human protein_coding chr11:108206645 chr11:108206648 nonsynonymous SNV 0.936 3 hm6A_associated_SNPs_34211 4 Uncertain significance not specified RCV000212081.1
2574 chr11 108206648 108206648 1 + C T COAD 108206645 + 108206625 108206665 41 TAATACATTACTGCAGAGAAACACGGAAACTAGGAAGAGGA TAATACATTACTGCAGAGAAACATGGAAACTAGGAAGAGGA < 41bp 1 0.650240593976554 1 0.0317628085613251 experiment 0.699518812046893 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 24 ATM ENSG00000149311 CDS Human protein_coding chr11:108206645 chr11:108206648 nonsynonymous SNV 0.936 3 hm6A_associated_SNPs_34211 4 Uncertain significance not provided RCV000436353.1
2575 chr5 36680671 36680671 1 + C T COAD 36680652 + 36680632 36680672 41 CATTTTCATTGCTCAAGTTAACAACTTTGAACTGAACTTCG CATTTTCATTGCTCAAGTTAACAACTTTGAACTGAACTTTG < 41bp 1 0.383212880060555 1 0.939326405525208 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 40 SLC1A3 ENSG00000079215 CDS Human protein_coding chr5:36680652 chr5:36680671 synonymous SNV . 0 hm6A_associated_SNPs_34380 1 Uncertain significance Episodic ataxia RCV000318873.1
2576 chr9 133364800 133364800 1 + C T COAD 133364789 + 133364769 133364809 41 CATCGAGGCCTTCACCATGGACCGGGAAGTGCGCAAAATCA CATCGAGGCCTTCACCATGGACCGGGAAGTGTGCAAAATCA < 41bp 1 0.258939659241375 1 0.907674431800842 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 32 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133364789 chr9:133364800 nonsynonymous SNV 0.980 4 hm6A_associated_SNPs_34446 1 Likely pathogenic not provided RCV000255358.1
2577 chr9 133364800 133364800 1 + C T COAD 133364811 + 133364791 133364831 41 CGGGAAGTGCGCAAAATCAAACAAGGCCTGGGCTTGAAATT CGGGAAGTGTGCAAAATCAAACAAGGCCTGGGCTTGAAATT < 41bp 1 0.743949607235349 1 0.863934993743896 experiment 0.512100785529303 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133364811 chr9:133364800 nonsynonymous SNV 0.980 4 hm6A_associated_SNPs_34447 1 Likely pathogenic not provided RCV000255358.1
2578 chr8 100866185 100866185 1 + A G COAD 100866169 + 100866149 100866189 41 CATTTGTATACTACATCAAGACTTTGTTTGACACCTACCTT CATTTGTATACTACATCAAGACTTTGTTTGACACCTGCCTT < 41bp 1 0.361425080373872 1 0.794813752174377 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 37 VPS13B ENSG00000132549 CDS Human protein_coding chr8:100866169 chr8:100866185 nonsynonymous SNV 0.877 4 hm6A_associated_SNPs_34517 2 Uncertain significance not specified RCV000081869.4
2579 chr8 100866185 100866185 1 + A G COAD 100866169 + 100866149 100866189 41 CATTTGTATACTACATCAAGACTTTGTTTGACACCTACCTT CATTTGTATACTACATCAAGACTTTGTTTGACACCTGCCTT < 41bp 1 0.361425080373872 1 0.794813752174377 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 37 VPS13B ENSG00000132549 CDS Human protein_coding chr8:100866169 chr8:100866185 nonsynonymous SNV 0.877 4 hm6A_associated_SNPs_34517 2 Uncertain significance Cohen syndrome RCV000310263.1
2580 chr11 67379389 67379389 1 + G A COAD 67379372 + 67379352 67379392 41 GCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCC GCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCACCC < 41bp 1 0.573207956971671 1 0.874000906944275 experiment 0.853584086056658 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 38 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379372 chr11:67379389 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_34524 3 Uncertain significance not specified RCV000195640.2
2581 chr11 67379389 67379389 1 + G A COAD 67379372 + 67379352 67379392 41 GCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCC GCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCACCC < 41bp 1 0.573207956971671 1 0.874000906944275 experiment 0.853584086056658 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 38 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379372 chr11:67379389 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_34524 3 Uncertain significance Leigh syndrome RCV000327027.1
2582 chr11 67379389 67379389 1 + G A COAD 67379372 + 67379352 67379392 41 GCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCGCCC GCCCCTCGTCACCCAGACGGACATCGTGAAAGCCATCACCC < 41bp 1 0.573207956971671 1 0.874000906944275 experiment 0.853584086056658 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 38 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67379372 chr11:67379389 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_34524 3 Uncertain significance Mitochondrial complex I deficiency RCV000388550.1
2583 chr9 133364727 133364727 1 + C T COAD 133364731 + 133364711 133364751 41 AATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTT AATGGCTAGGTATCTATGAGACCCCAGCAGGCACCATCCTT < 41bp 1 0.0915195706300228 1 0.407532334327698 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 17 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133364731 chr9:133364727 synonymous SNV . 0 hm6A_associated_SNPs_34612 1 Uncertain significance Citrullinemia type I RCV000259935.1
2584 chr6 7583862 7583862 1 + C T COAD 7583853 + 7583833 7583873 41 AAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAA AAAATTTGATTGATAGAGAAACCGGAATGTGCCTGCTGGAA < 41bp 1 0.638774643629543 1 0.997626662254333 experiment 0.722450712740913 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 30 DSP ENSG00000096696 CDS Human protein_coding chr6:7583853 chr6:7583862 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_34665 1 Uncertain significance not specified RCV000150578.1
2585 chr5 138658401 138658401 1 + C T COAD 138658386 + 138658366 138658406 41 AGTTCAACCGAAGGTAAAGAACAAGAAGAGAAGTCCGGTGA AGTTCAACCGAAGGTAAAGAACAAGAAGAGAAGTCTGGTGA < 41bp 1 0.655317251636332 1 0.996257781982422 experiment 0.689365496727335 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 36 MATR3 ENSG00000015479 CDS Human protein_coding chr5:138658386 chr5:138658401 synonymous SNV . 0 hm6A_associated_SNPs_34689 1 Likely benign Distal myopathy RCV000320069.1
2586 chr5 138658401 138658401 1 + C T COAD 138658421 + 138658401 138658441 41 CGGTGAAGATGGTGAGAAAGACACAAAGGATGACCAGACAG TGGTGAAGATGGTGAGAAAGACACAAAGGATGACCAGACAG < 41bp 1 0.637419825634363 1 0.995665550231934 experiment 0.725160348731274 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 MATR3 ENSG00000015479 CDS Human protein_coding chr5:138658421 chr5:138658401 synonymous SNV . 0 hm6A_associated_SNPs_34690 1 Likely benign Distal myopathy RCV000320069.1
2587 chr16 89611090 89611090 1 + G A COAD 89611107 + 89611087 89611127 41 GGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGA GGCATCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGA < 41bp 1 0.784422834217197 1 0.917255759239197 experiment 0.431154331565607 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 SPG7 ENSG00000197912 CDS Human protein_coding chr16:89611107 chr16:89611090 synonymous SNV . 0 hm6A_associated_SNPs_34835 2 Uncertain significance Spastic Paraplegia, Recessive RCV000274144.1
2588 chr16 89611090 89611090 1 + G A COAD 89611107 + 89611087 89611127 41 GGCGTCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGA GGCATCCACGAACCGAGCTGACATTTTGGACGGTGCTCTGA < 41bp 1 0.784422834217197 1 0.917255759239197 experiment 0.431154331565607 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 SPG7 ENSG00000197912 CDS Human protein_coding chr16:89611107 chr16:89611090 synonymous SNV . 0 hm6A_associated_SNPs_34835 2 Likely benign not specified RCV000419596.1
2589 chr10 75865105 75865105 1 + G A COAD 75865097 + 75865077 75865117 41 TGCAAAAGCTGTGGCTGGAAACATTTCCGACCCTGGTAAGC TGCAAAAGCTGTGGCTGGAAACATTTCCAACCCTGGTAAGC < 41bp 1 0.306797695672966 1 0.878175377845764 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 29 VCL ENSG00000035403 CDS Human protein_coding chr10:75865097 chr10:75865105 nonsynonymous SNV 0.966 1 hm6A_associated_SNPs_34875 1 Uncertain significance not specified RCV000183979.1
2590 chrX 128703273 128703273 1 + G A COAD 128703290 + 128703270 128703310 41 ACCGAATTCTTTGGAGAGGAACAAATGTTAATCAGCTTAAT ACCAAATTCTTTGGAGAGGAACAAATGTTAATCAGCTTAAT < 41bp 1 0.454318433287361 1 0.0140427052974701 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 4 OCRL ENSG00000122126 CDS Human protein_coding chrX:128703290 chrX:128703273 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_35073 1 Pathogenic Lowe syndrome RCV000011605.7
2591 chr9 131394992 131394992 1 + G A COAD 131394979 + 131394959 131394999 41 TGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGT TGAGTTCGAGGCAATCCTGGACACGGTGGATCCAAACAGGT < 41bp 1 0.286433883269551 1 0.967958688735962 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131394979 chr9:131394992 synonymous SNV . 0 hm6A_associated_SNPs_35608 2 Benign not specified RCV000128276.2
2592 chr9 131394992 131394992 1 + G A COAD 131394979 + 131394959 131394999 41 TGAGTTCGAGGCAATCCTGGACACGGTGGATCCGAACAGGT TGAGTTCGAGGCAATCCTGGACACGGTGGATCCAAACAGGT < 41bp 1 0.286433883269551 1 0.967958688735962 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 34 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131394979 chr9:131394992 synonymous SNV . 0 hm6A_associated_SNPs_35608 2 Benign Early infantile epileptic encephalopathy RCV000473933.1
2593 chr14 29237174 29237174 1 + G A COAD 29237165 + 29237145 29237185 41 GAACAAGCAGGGCTGGCAGAACTCCATCCGCCACAATCTGT GAACAAGCAGGGCTGGCAGAACTCCATCCACCACAATCTGT < 41bp 1 0.659062610181199 1 0.999993443489075 experiment 0.681874779637603 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 30 FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237165 chr14:29237174 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_35731 1 Pathogenic Rett syndrome, congenital variant RCV000170080.1
2594 chr14 64518863 64518863 1 + G T COAD 64518878 + 64518858 64518898 41 GCCAAGAATTTGTTGGGTGAACTTAATCCCTCCATTCCCCT GCCAATAATTTGTTGGGTGAACTTAATCCCTCCATTCCCCT < 41bp 1 0.552941408959089 1 0.973670423030853 experiment 0.894117182081821 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;A549;Control 6 SYNE2 ENSG00000054654 CDS Human protein_coding chr14:64518878 chr14:64518863 nonsynonymous SNV 0.595 0 hm6A_associated_SNPs_35754 1 Uncertain significance Emery-Dreifuss muscular dystrophy RCV000374834.1
2595 chr17 19559758 19559758 1 + C T COAD 19559764 + 19559744 19559784 41 CCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTG CCACATTTTCTATATGGGAAACACTGCGGTTGGCAAAATTG < 41bp 1 0.736654355273127 1 0.493513703346252 experiment 0.526691289453746 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 ALDH3A2 ENSG00000072210 CDS Human protein_coding chr17:19559764 chr17:19559758 nonsynonymous SNV 0.959 5 hm6A_associated_SNPs_35755 2 Likely pathogenic Sjögren-Larsson syndrome RCV000169091.1
2596 chr17 19559758 19559758 1 + C T COAD 19559764 + 19559744 19559784 41 CCACATTTTCTATACGGGAAACACTGCGGTTGGCAAAATTG CCACATTTTCTATATGGGAAACACTGCGGTTGGCAAAATTG < 41bp 1 0.736654355273127 1 0.493513703346252 experiment 0.526691289453746 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 ALDH3A2 ENSG00000072210 CDS Human protein_coding chr17:19559764 chr17:19559758 nonsynonymous SNV 0.959 5 hm6A_associated_SNPs_35755 2 Pathogenic not provided RCV000427449.1
2597 chr18 20602152 20602152 1 + C T COAD 20602148 + 20602128 20602168 41 AAATTGGCTTCCTGCTCAAGACACCGATTCCGCTACATTCC AAATTGGCTTCCTGCTCAAGACACTGATTCCGCTACATTCC < 41bp 1 0.729539898826466 1 0.181191742420197 experiment 0.540920202347069 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 25 RBBP8 ENSG00000101773 CDS Human protein_coding chr18:20602148 chr18:20602152 stopgain 0.964 1 hm6A_associated_SNPs_35904 1 Likely pathogenic not provided RCV000480286.1
2598 chr12 58145459 58145459 1 + G A COAD 58145446 - 58145426 58145466 41 TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT TTGGTGTTGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT < 41bp 1 0.783770971891328 1 0.875314950942993 experiment 0.432458056217343 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 8 CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145446 chr12:58145459 synonymous SNV . 0 hm6A_associated_SNPs_36055 1 Likely benign Hereditary cancer-predisposing syndrome RCV000166385.1
2599 chr5 226053 226053 1 + G A COAD 226066 + 226046 226086 41 TATCAGCGTGCATTTGGTGGACAGAGCCTCAAGTTTGGAAA TATCAGCATGCATTTGGTGGACAGAGCCTCAAGTTTGGAAA < 41bp 1 0.72739403052842 1 0.968114376068115 experiment 0.54521193894316 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 8 SDHA ENSG00000073578 CDS Human protein_coding chr5:226066 chr5:226053 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_36158 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000130572.2
2600 chr5 226053 226053 1 + G A COAD 226066 + 226046 226086 41 TATCAGCGTGCATTTGGTGGACAGAGCCTCAAGTTTGGAAA TATCAGCATGCATTTGGTGGACAGAGCCTCAAGTTTGGAAA < 41bp 1 0.72739403052842 1 0.968114376068115 experiment 0.54521193894316 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 8 SDHA ENSG00000073578 CDS Human protein_coding chr5:226066 chr5:226053 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_36158 3 Uncertain significance Mitochondrial complex II deficiency RCV000466700.1
2601 chr5 226053 226053 1 + G A COAD 226066 + 226046 226086 41 TATCAGCGTGCATTTGGTGGACAGAGCCTCAAGTTTGGAAA TATCAGCATGCATTTGGTGGACAGAGCCTCAAGTTTGGAAA < 41bp 1 0.72739403052842 1 0.968114376068115 experiment 0.54521193894316 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 8 SDHA ENSG00000073578 CDS Human protein_coding chr5:226066 chr5:226053 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_36158 3 Uncertain significance Paragangliomas 5 RCV000466700.1
2602 chr22 24145587 24145587 1 + C T COAD 24145601 + 24145581 24145621 41 GCGAGACGCCTTCACCTGGAACATGAATGGTACAAGGCAGT GCGAGATGCCTTCACCTGGAACATGAATGGTACAAGGCAGT < 41bp 1 0.561619068891732 1 0.922459483146667 experiment 0.876761862216536 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 SMARCB1 ENSG00000099956 CDS Human protein_coding chr22:24145601 chr22:24145587 synonymous SNV . 0 hm6A_associated_SNPs_36278 1 Likely benign not specified RCV000153974.3
2603 chr1 156105741 156105741 1 + G A COAD 156105729 + 156105709 156105749 41 GAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGG GAAGCTTCGAGACCTGGAGGACTCACTGGCCCATGAGCGGG < 41bp 1 0.229829916920695 1 0.988065481185913 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 33 LMNA ENSG00000160789 CDS Human protein_coding chr1:156105729 chr1:156105741 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_36285 1 Uncertain significance not specified RCV000041377.2
2604 chr1 156105741 156105741 1 + G A COAD 156105750 + 156105730 156105770 41 CTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGG CTCACTGGCCCATGAGCGGGACACCAGCCGGCGGCTGCTGG < 41bp 1 0.498323615879188 1 0.98630964756012 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 12 LMNA ENSG00000160789 CDS Human protein_coding chr1:156105750 chr1:156105741 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_36286 1 Uncertain significance not specified RCV000041377.2
2605 chr19 13004345 13004345 1 + G A DLBC 13004363 + 13004343 13004383 41 CCGAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGA CCAAGAGCTGGAGCGGGTGGACAGTGGCTACAGGTCGGCGA < 41bp 1 0.669861107149465 1 0.707555115222931 experiment 0.66027778570107 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 3 GCDH ENSG00000105607 CDS Human protein_coding chr19:13004363 chr19:13004345 nonsynonymous SNV 0.998 5 hm6A_associated_SNPs_36422 1 Likely pathogenic Glutaric aciduria, type 1 RCV000169460.1
2606 chr8 128751241 128751241 1 + C G DLBC 128751238 + 128751218 128751258 41 CCCTGGTGCTCCATGAGGAGACACCGCCCACCACCAGCAGC CCCTGGTGCTCCATGAGGAGACAGCGCCCACCACCAGCAGC < 41bp 1 0.548053904426154 1 0.997071325778961 experiment 0.903892191147691 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 24 MYC ENSG00000136997 CDS Human protein_coding chr8:128751238 chr8:128751241 nonsynonymous SNV 0.995 1 hm6A_associated_SNPs_36438 1 Likely pathogenic Neoplasm RCV000444724.1
2607 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Pathogenic Bannayan-Riley-Ruvalcaba syndrome RCV000008279.3
2608 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Pathogenic Proteus-like syndrome RCV000008281.3
2609 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Pathogenic Cowden syndrome 1 RCV000033179.3
2610 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Pathogenic not provided RCV000078601.4
2611 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Pathogenic Hereditary cancer-predisposing syndrome RCV000162409.4
2612 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Pathogenic PTEN hamartoma tumor syndrome RCV000197423.2
2613 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Pathogenic Macrocephaly/autism syndrome RCV000414819.1
2614 chr10 89720852 89720852 1 + C T DLBC 89720841 + 89720821 89720861 41 TCTTGACAAAGCAAATAAAGACAAAGCCAACCGATACTTTT TCTTGACAAAGCAAATAAAGACAAAGCCAACTGATACTTTT < 41bp 1 0.794960496010096 1 0.926809251308441 experiment 0.410079007979808 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 32 PTEN ENSG00000171862 CDS Human protein_coding chr10:89720841 chr10:89720852 stopgain 1.000 1 hm6A_associated_SNPs_36454 8 Likely pathogenic Neoplasm of brain RCV000437329.1
2615 chrX 64951012 64951012 1 + C T DLBC 64950998 + 64950978 64951018 41 ACAGCACAAACTCAACAAGGACCAGTGGGAGGAGCGGATCC ACAGCACAAACTCAACAAGGACCAGTGGGAGGAGTGGATCC < 41bp 1 0.146637996314075 1 0.554516851902008 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 35 MSN ENSG00000147065 CDS Human protein_coding chrX:64950998 chrX:64951012 nonsynonymous SNV 0.993 5 hm6A_associated_SNPs_36513 1 Pathogenic Immunodeficiency 50 RCV000412603.1
2616 chr16 14042187 14042187 1 + G A ESCA 14042205 + 14042185 14042225 41 AAGGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA AAAGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA < 41bp 1 0.70052161349788 1 0.947468817234039 experiment 0.59895677300424 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 3 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042205 chr16:14042187 nonsynonymous SNV 0.038 2 hm6A_associated_SNPs_36628 4 not provided not specified RCV000120814.1
2617 chr16 14042187 14042187 1 + G A ESCA 14042205 + 14042185 14042225 41 AAGGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA AAAGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA < 41bp 1 0.70052161349788 1 0.947468817234039 experiment 0.59895677300424 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 3 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042205 chr16:14042187 nonsynonymous SNV 0.038 2 hm6A_associated_SNPs_36628 4 Likely benign Cockayne syndrome RCV000474309.1
2618 chr16 14042187 14042187 1 + G A ESCA 14042205 + 14042185 14042225 41 AAGGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA AAAGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA < 41bp 1 0.70052161349788 1 0.947468817234039 experiment 0.59895677300424 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 3 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042205 chr16:14042187 nonsynonymous SNV 0.038 2 hm6A_associated_SNPs_36628 4 Likely benign Fanconi anemia, complementation group Q RCV000474309.1
2619 chr16 14042187 14042187 1 + G A ESCA 14042205 + 14042185 14042225 41 AAGGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA AAAGAAAAGGGAAAAAGTGAACAGTGATGGCTGTTTTCTTA < 41bp 1 0.70052161349788 1 0.947468817234039 experiment 0.59895677300424 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 3 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042205 chr16:14042187 nonsynonymous SNV 0.038 2 hm6A_associated_SNPs_36628 4 Likely benign Xeroderma pigmentosum, group F RCV000474309.1
2620 chr16 15758647 15758647 1 + C T ESCA 15758654 + 15758634 15758674 41 CAATGGAGGACTCCGGAAAGACTTTCAGCTCCGAGGAGGAA CAATGGAGGACTCTGGAAAGACTTTCAGCTCCGAGGAGGAA < 41bp 1 0.253639173212568 1 0.914951682090759 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 14 NDE1 ENSG00000072864 CDS Human protein_coding chr16:15758654 chr16:15758647 synonymous SNV . 0 hm6A_associated_SNPs_36779 1 Uncertain significance Lissencephaly, Recessive RCV000271161.1
2621 chr7 147675066 147675066 1 + C T ESCA 147675079 + 147675059 147675099 41 TCCTCTGCGCTGCCAAGGAGACAGTAAGTTTGCATAGCAGC TCCTCTGTGCTGCCAAGGAGACAGTAAGTTTGCATAGCAGC < 41bp 1 0.0765517943973237 1 0.533758163452148 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 8 CNTNAP2 ENSG00000174469 CDS Human protein_coding chr7:147675079 chr7:147675066 nonsynonymous SNV 0.999 3 hm6A_associated_SNPs_36804 1 Uncertain significance not specified RCV000187209.1
2622 chr2 217280027 217280027 1 + G A ESCA 217280035 + 217280015 217280055 41 AGCCTCCCCTTCGGGGCAGAACATTTCTTACATCCATTCTA AGCCTCCCCTTCAGGGCAGAACATTTCTTACATCCATTCTA < 41bp 1 0.724630201566812 1 0.816412389278412 experiment 0.550739596866375 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 13 SMARCAL1 ENSG00000138375 CDS Human protein_coding chr2:217280035 chr2:217280027 synonymous SNV . 0 hm6A_associated_SNPs_36895 1 Uncertain significance Schimke immunoosseous dysplasia RCV000402266.1
2623 chr14 29237758 29237758 1 + T C ESCA 29237764 + 29237744 29237784 41 ACGTCCCGCACCCGTCAATGACTTCGCAGAGCAGCACGTCC ACGTCCCGCACCCGCCAATGACTTCGCAGAGCAGCACGTCC < 41bp 1 0.620077549778107 1 0.997801542282104 experiment 0.759844900443787 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 15 FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237764 chr14:29237758 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_37038 1 Uncertain significance not specified RCV000187446.2
2624 chr21 46902721 46902721 1 + G A ESCA 46902729 + 46902709 46902749 41 GGTGAAGCAGGCGCCCCAGGACATAAGGTACAAGCAGAATC GGTGAAGCAGGCACCCCAGGACATAAGGTACAAGCAGAATC < 41bp 1 0.103903813414621 1 0.874808371067047 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|26593424;GSE73405;miCLIP;HepG2;Control 13 COL18A1 ENSG00000182871 CDS Human protein_coding chr21:46902729 chr21:46902721 nonsynonymous SNV 0.093 1 hm6A_associated_SNPs_37325 1 Uncertain significance Knobloch syndrome 1 RCV000340898.1
2625 chr5 67589138 67589138 1 + G A GBM 67589145 + 67589125 67589165 41 TTACAGGAAAGGGGGAAATAACAAATTAATCAAAATATTTC TTACAGGAAAGGGAGAAATAACAAATTAATCAAAATATTTC < 41bp 1 0.537412618420133 1 0.789008378982544 experiment 0.925174763159735 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 14 PIK3R1 ENSG00000145675 CDS Human protein_coding chr5:67589145 chr5:67589138 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_37337 1 Likely pathogenic Neoplasm RCV000425556.1
2626 chr10 89692911 89692911 1 + G A GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGATGTAATGATATGTGCA < 41bp 1 0.342277662184505 1 0.804488182067871 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 25 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692911 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_37392 2 Likely pathogenic not provided RCV000078616.6
2627 chr10 89692911 89692911 1 + G A GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGATGTAATGATATGTGCA < 41bp 1 0.342277662184505 1 0.804488182067871 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 25 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692911 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_37392 2 Uncertain significance not specified RCV000259056.1
2628 chr5 82833070 82833070 1 + C T GBM 82833090 + 82833070 82833110 41 CGTTACCACTGTGCCCAAGGACCCAGAAGCTGCAGAAGCTA TGTTACCACTGTGCCCAAGGACCCAGAAGCTGCAGAAGCTA < 41bp 1 0.521705097149352 1 0.997930884361267 experiment 0.956589805701295 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 1 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833090 chr5:82833070 synonymous SNV . 0 hm6A_associated_SNPs_37627 2 Uncertain significance Wagner syndrome RCV000313457.1
2629 chr5 82833070 82833070 1 + C T GBM 82833090 + 82833070 82833110 41 CGTTACCACTGTGCCCAAGGACCCAGAAGCTGCAGAAGCTA TGTTACCACTGTGCCCAAGGACCCAGAAGCTGCAGAAGCTA < 41bp 1 0.521705097149352 1 0.997930884361267 experiment 0.956589805701295 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 1 VCAN ENSG00000038427 CDS Human protein_coding chr5:82833090 chr5:82833070 synonymous SNV . 0 hm6A_associated_SNPs_37627 2 Uncertain significance Vitreoretinopathy RCV000391382.1
2630 chr14 89077210 89077210 1 + G A GBM 89077191 + 89077171 89077211 41 TATTCAGCATTGTAGGTTTAACACTCAATGTACAAGACCGG TATTCAGCATTGTAGGTTTAACACTCAATGTACAAGACCAG < 41bp 1 0.399403352195009 1 0.0137887597084045 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 ZC3H14 ENSG00000100722 CDS Human protein_coding chr14:89077191 chr14:89077210 synonymous SNV . 0 hm6A_associated_SNPs_37791 1 Uncertain significance not specified RCV000194677.1
2631 chr14 89077210 89077210 1 + G A GBM 89077207 + 89077187 89077227 41 TTTAACACTCAATGTACAAGACCGGACTGCACATTCTACCA TTTAACACTCAATGTACAAGACCAGACTGCACATTCTACCA < 41bp 1 0.179722314027099 1 0.0172895193099976 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 ZC3H14 ENSG00000100722 CDS Human protein_coding chr14:89077207 chr14:89077210 synonymous SNV . 0 hm6A_associated_SNPs_37792 1 Uncertain significance not specified RCV000194677.1
2632 chr14 89077210 89077210 1 + G A GBM 89077212 + 89077192 89077232 41 CACTCAATGTACAAGACCGGACTGCACATTCTACCATCCCA CACTCAATGTACAAGACCAGACTGCACATTCTACCATCCCA < 41bp 1 0.244006567145235 1 0.0417976081371307 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 19 ZC3H14 ENSG00000100722 CDS Human protein_coding chr14:89077212 chr14:89077210 synonymous SNV . 0 hm6A_associated_SNPs_37793 1 Uncertain significance not specified RCV000194677.1
2633 chr19 50902210 50902210 1 + C T GBM 50902218 + 50902198 50902238 41 GCCATCCCAATTCGAGGAGGACCTGGCACTGATGGAGGAGA GCCATCCCAATTTGAGGAGGACCTGGCACTGATGGAGGAGA < 41bp 1 0.112170511434424 1 0.907451927661896 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 POLD1 ENSG00000062822 CDS Human protein_coding chr19:50902218 chr19:50902210 synonymous SNV . 0 hm6A_associated_SNPs_37944 1 Likely benign not specified RCV000427778.1
2634 chr20 62329662 62329662 1 + G A GBM 62329681 + 62329661 62329701 41 CGACTTTGTGGCTTTCCAGGACATCTCCATCAAGAGGCTGC CAACTTTGTGGCTTTCCAGGACATCTCCATCAAGAGGCTGC < 41bp 1 0.49717246761218 1 0.976479768753052 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 2 TNFRSF6B ENSG00000243509 CDS Human protein_coding chr20:62329681 chr20:62329662 nonsynonymous SNV 0.004 2 hm6A_associated_SNPs_37999 1 Likely benign Long QT syndrome RCV000190158.1
2635 chr5 68805301 68805301 1 + C T GBM 68805315 + 68805295 68805335 41 TGGCTACGGAGGCTATACAGACCCAAGAGCAGCAAAGGGCT TGGCTATGGAGGCTATACAGACCCAAGAGCAGCAAAGGGCT < 41bp 1 0.304407948818487 1 0.948364615440369 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 7 OCLN ENSG00000197822 CDS Human protein_coding chr5:68805315 chr5:68805301 synonymous SNV . 0 hm6A_associated_SNPs_38050 1 Uncertain significance Band-like calcification with simplified gyration and polymicrogyria RCV000146970.1
2636 chr3 4726836 4726836 1 + G A GBM 4726838 + 4726818 4726858 41 GCAACAGCGTCTGCTCCGGAACATGGGCGCGCACGCCGTGG GCAACAGCGTCTGCTCCGAAACATGGGCGCGCACGCCGTGG < 41bp 1 0.465278328956988 1 0.673113524913788 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 19 ITPR1 ENSG00000150995 CDS Human protein_coding chr3:4726838 chr3:4726836 synonymous SNV . 0 hm6A_associated_SNPs_38296 1 Uncertain significance Spinocerebellar Ataxia, Dominant RCV000360662.1
2637 chr1 100368332 100368332 1 + C T GBM 100368336 + 100368316 100368356 41 TGGTCCCCAGATAGATCGAAACATGAAGGACGAAGGTACAG TGGTCCCCAGATAGATTGAAACATGAAGGACGAAGGTACAG < 41bp 1 0.396781444842595 1 0.0519490838050842 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 17 AGL ENSG00000162688 CDS Human protein_coding chr1:100368336 chr1:100368332 stopgain 0.806 0 hm6A_associated_SNPs_38485 1 Pathogenic Glycogen storage disease type III RCV000020377.2
2638 chr3 39431077 39431077 1 + G A GBM 39431073 + 39431053 39431093 41 AACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAG AACCTCTGGATCTCCTTAAAACACACCTGCAAACCCTCCAG < 41bp 1 0.732759393719519 1 0.0235867500305176 experiment 0.534481212560961 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 25 SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431073 chr3:39431077 nonsynonymous SNV 0.987 4 hm6A_associated_SNPs_38539 2 Uncertain significance Refractory anemia with ringed sideroblasts (clinical) RCV000262660.1
2639 chr3 39431077 39431077 1 + G A GBM 39431073 + 39431053 39431093 41 AACCTCTGGATCTCCTTAAAACACGCCTGCAAACCCTCCAG AACCTCTGGATCTCCTTAAAACACACCTGCAAACCCTCCAG < 41bp 1 0.732759393719519 1 0.0235867500305176 experiment 0.534481212560961 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 25 SLC25A38 ENSG00000144659 CDS Human protein_coding chr3:39431073 chr3:39431077 nonsynonymous SNV 0.987 4 hm6A_associated_SNPs_38539 2 Uncertain significance Hereditary sideroblastic anemia RCV000357294.1
2640 chr13 32911410 32911410 1 + C T GBM 32911413 + 32911393 32911433 41 AGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATA AGGTCAAGATTTAAAATTGGACATCTCCTTGAATATAGATA < 41bp 1 0.795280668998095 1 0.949813723564148 experiment 0.40943866200381 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911413 chr13:32911410 nonsynonymous SNV 0.012 1 hm6A_associated_SNPs_38550 4 Uncertain significance Breast-ovarian cancer, familial 2 RCV000031388.4
2641 chr13 32911410 32911410 1 + C T GBM 32911413 + 32911393 32911433 41 AGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATA AGGTCAAGATTTAAAATTGGACATCTCCTTGAATATAGATA < 41bp 1 0.795280668998095 1 0.949813723564148 experiment 0.40943866200381 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911413 chr13:32911410 nonsynonymous SNV 0.012 1 hm6A_associated_SNPs_38550 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000165120.2
2642 chr13 32911410 32911410 1 + C T GBM 32911413 + 32911393 32911433 41 AGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATA AGGTCAAGATTTAAAATTGGACATCTCCTTGAATATAGATA < 41bp 1 0.795280668998095 1 0.949813723564148 experiment 0.40943866200381 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911413 chr13:32911410 nonsynonymous SNV 0.012 1 hm6A_associated_SNPs_38550 4 Uncertain significance not specified RCV000220429.1
2643 chr13 32911410 32911410 1 + C T GBM 32911413 + 32911393 32911433 41 AGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATA AGGTCAAGATTTAAAATTGGACATCTCCTTGAATATAGATA < 41bp 1 0.795280668998095 1 0.949813723564148 experiment 0.40943866200381 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911413 chr13:32911410 nonsynonymous SNV 0.012 1 hm6A_associated_SNPs_38550 4 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000471898.1
2644 chr10 89624299 89624299 1 + T G GBM 89624302 + 89624282 89624322 41 ATGGATTCGACTTAGACTTGACCTGTATCCATTTCTGCGGC ATGGATTCGACTTAGACGTGACCTGTATCCATTTCTGCGGC < 41bp 1 0.304025633003528 1 0.996774911880493 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89624302 chr10:89624299 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_38724 1 Uncertain significance not specified RCV000078620.4
2645 chr16 15818586 15818586 1 + C T GBM 15818583 - 15818563 15818603 41 CCAGCTGGAGGAGGAGCGGAACAGCCTGCAAGACCAGCTGG CCAGCTGGAGGAGGAGCAGAACAGCCTGCAAGACCAGCTGG < 41bp 1 0.617083840680344 1 0.9996138215065 experiment 0.765832318639312 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 18 MYH11 ENSG00000133392 CDS Human protein_coding chr16:15818583 chr16:15818586 nonsynonymous SNV 0.987 1 hm6A_associated_SNPs_38742 1 Uncertain significance Aortic aneurysm, familial thoracic 4 RCV000415683.1
2646 chr10 89653833 89653833 1 + G A GBM 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTCCTGCAGAAAGACTTGAAGACGTATACAGGAA < 41bp 1 0.40490971995895 1 0.933582544326782 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 29 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653833 nonsynonymous SNV 0.999 5 hm6A_associated_SNPs_38752 1 Pathogenic PTEN hamartoma tumor syndrome RCV000490575.1
2647 chr10 89653833 89653833 1 + G A GBM 89653845 + 89653825 89653865 41 ACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAA ACTTGAAGACGTATACAGGAACAATATTGATGATGTAGTAA < 41bp 1 0.675320471149161 1 0.839217782020569 experiment 0.649359057701679 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 9 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653845 chr10:89653833 nonsynonymous SNV 0.999 5 hm6A_associated_SNPs_38753 1 Pathogenic PTEN hamartoma tumor syndrome RCV000490575.1
2648 chr21 47754556 47754556 1 + G C GBM 47754544 + 47754524 47754564 41 GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT GTCAGTGACCACCCACCAGAACAGCGTGGGATCTTCACAAT < 41bp 1 0.267712818690804 1 0.912540018558502 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 33 PCNT ENSG00000160299 CDS Human protein_coding chr21:47754544 chr21:47754556 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_38814 1 Uncertain significance Microcephalic Osteodysplastic Primordial Dwarfism RCV000323581.1
2649 chr10 89692893 89692893 1 + C T GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGTTGGAAAGGGACGAACTGGTGTAATGATATGTGCA < 41bp 1 0.319470458546462 1 0.748825430870056 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 7 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692893 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_38844 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000491689.1
2650 chr1 160098552 160098552 1 + G A GBM 160098545 + 160098525 160098565 41 CACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCC CACGTCCACCATCTGCTCGGACAAGACAGGCACCCTCACCC < 41bp 1 0.693828640635884 1 0.959578156471252 experiment 0.612342718728232 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 28 ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160098545 chr1:160098552 synonymous SNV . 0 hm6A_associated_SNPs_38854 1 Benign not specified RCV000123758.2
2651 chr10 89653842 89653842 1 + G A GBM 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAAGAA < 41bp 1 0.431088130314641 1 0.936487436294556 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 38 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653842 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_39001 1 Likely pathogenic not provided RCV000412756.1
2652 chr10 89653842 89653842 1 + G A GBM 89653845 + 89653825 89653865 41 ACTTGAAGGCGTATACAGGAACAATATTGATGATGTAGTAA ACTTGAAGGCGTATACAAGAACAATATTGATGATGTAGTAA < 41bp 1 0.728021855275051 1 0.860739946365356 experiment 0.543956289449897 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 18 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653845 chr10:89653842 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_39002 1 Likely pathogenic not provided RCV000412756.1
2653 chr1 186062774 186062774 1 + G A GBM 186062790 + 186062770 186062810 41 ATCCGGTTACTGGCAGCAGGACAAGTTATCAGGTCAGCTTT ATCCAGTTACTGGCAGCAGGACAAGTTATCAGGTCAGCTTT < 41bp 1 0.113130159785532 1 0.905269265174866 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 5 HMCN1 ENSG00000143341 CDS Human protein_coding chr1:186062790 chr1:186062774 nonsynonymous SNV 0.976 3 hm6A_associated_SNPs_39059 1 Uncertain significance Macular degeneration RCV000355190.1
2654 chr7 116381037 116381037 1 + C T GBM 116381041 + 116381021 116381061 41 CGGAGGAATGCCTGAGCGGGACATGGACTCAACAGATCTGT CGGAGGAATGCCTGAGTGGGACATGGACTCAACAGATCTGT < 41bp 1 0.381448784905403 1 0.855486929416656 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 17 MET ENSG00000105976 CDS Human protein_coding chr7:116381041 chr7:116381037 synonymous SNV . 0 hm6A_associated_SNPs_39247 1 Likely benign Renal cell carcinoma, papillary, 1 RCV000119228.4
2655 chr10 89692922 89692922 1 + T C GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATACGTGCA < 41bp 1 0.327663341508098 1 0.810360312461853 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692922 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_39273 5 Pathogenic Hereditary cancer-predisposing syndrome RCV000162428.3
2656 chr10 89692922 89692922 1 + T C GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATACGTGCA < 41bp 1 0.327663341508098 1 0.810360312461853 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692922 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_39273 5 Pathogenic Acute megakaryoblastic leukemia RCV000202582.1
2657 chr10 89692922 89692922 1 + T C GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATACGTGCA < 41bp 1 0.327663341508098 1 0.810360312461853 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692922 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_39273 5 Pathogenic Mediastinal germ cell tumor RCV000202582.1
2658 chr10 89692922 89692922 1 + T C GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATACGTGCA < 41bp 1 0.327663341508098 1 0.810360312461853 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692922 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_39273 5 Pathogenic not provided RCV000212881.2
2659 chr10 89692922 89692922 1 + T C GBM 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATACGTGCA < 41bp 1 0.327663341508098 1 0.810360312461853 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692922 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_39273 5 Pathogenic PTEN hamartoma tumor syndrome RCV000463307.1
2660 chr11 125514440 125514440 1 + C T HNSC 125514437 + 125514417 125514457 41 AGCGGTTGGTCAAAAGAATGACACGATTCTTTACCAAATTG AGCGGTTGGTCAAAAGAATGACATGATTCTTTACCAAATTG < 41bp 1 0.639710207886597 1 0.589768707752228 experiment 0.720579584226805 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 CHEK1 ENSG00000149554 CDS Human protein_coding chr11:125514437 chr11:125514440 stopgain 0.997 1 hm6A_associated_SNPs_39410 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000210167.1
2661 chr13 32907432 32907432 1 + C T HNSC 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CTGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA < 41bp 1 0.713470155382532 1 0.970836162567139 experiment 0.573059689234936 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907432 nonsynonymous SNV 0.868 1 hm6A_associated_SNPs_39499 4 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000043900.3
2662 chr13 32907432 32907432 1 + C T HNSC 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CTGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA < 41bp 1 0.713470155382532 1 0.970836162567139 experiment 0.573059689234936 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907432 nonsynonymous SNV 0.868 1 hm6A_associated_SNPs_39499 4 Uncertain significance Breast-ovarian cancer, familial 2 RCV000077268.3
2663 chr13 32907432 32907432 1 + C T HNSC 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CTGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA < 41bp 1 0.713470155382532 1 0.970836162567139 experiment 0.573059689234936 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907432 nonsynonymous SNV 0.868 1 hm6A_associated_SNPs_39499 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000163125.1
2664 chr13 32907432 32907432 1 + C T HNSC 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CTGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA < 41bp 1 0.713470155382532 1 0.970836162567139 experiment 0.573059689234936 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907432 nonsynonymous SNV 0.868 1 hm6A_associated_SNPs_39499 4 Uncertain significance not specified RCV000479578.1
2665 chr21 47552155 47552155 1 + G A HNSC 47552141 + 47552121 47552161 41 GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCG GGAGACCACACAATACCTGAACTCCTTCTCGCACATGGGCG < 41bp 1 0.754263095311327 1 0.997596383094788 experiment 0.491473809377347 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 35 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552141 chr21:47552155 nonsynonymous SNV 0.988 4 hm6A_associated_SNPs_39968 1 Uncertain significance not specified RCV000265744.1
2666 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Uncertain significance not specified RCV000154696.5
2667 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Uncertain significance Left ventricular noncompaction cardiomyopathy RCV000157163.1
2668 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Uncertain significance Muscular dystrophy, limb-girdle, type 2r RCV000229797.2
2669 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Uncertain significance Myofibrillar myopathy 1 RCV000229797.2
2670 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Likely benign Dilated Cardiomyopathy, Dominant RCV000307432.1
2671 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Likely benign Myofibrillar myopathy 1 RCV000371396.1
2672 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Likely benign Scapuloperoneal weakness RCV000393436.1
2673 chr2 220284873 220284873 1 + G A HNSC 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCAAG < 41bp 1 0.554114494618748 1 0.699564754962921 experiment 0.891771010762504 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 39 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284873 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_40011 8 Likely benign Myofibrillar Myopathy, Dominant RCV000406154.1
2674 chr3 49569252 49569252 1 + G A HNSC 49569243 + 49569223 49569263 41 CCACGAGTATCCACACCAAAACCAGCAACGCCTTCAACTGA CCACGAGTATCCACACCAAAACCAGCAACACCTTCAACTGA < 41bp 1 0.755344445034608 1 0.999814510345459 experiment 0.489311109930784 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 30 DAG1 ENSG00000173402 CDS Human protein_coding chr3:49569243 chr3:49569252 synonymous SNV . 0 hm6A_associated_SNPs_40033 1 other not specified RCV000252680.2
2675 chr5 176709563 176709563 1 + A G HNSC 176709578 + 176709558 176709598 41 TTTCTATATGCTCACCCTAGACAAAGTAAGTAATGGGAAAT TTTCTGTATGCTCACCCTAGACAAAGTAAGTAATGGGAAAT < 41bp 1 0.484480790726407 1 0.2199846804142 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 6 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176709578 chr5:176709563 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_40423 1 Pathogenic Sotos syndrome 1 RCV000193844.1
2676 chr13 32937584 32937584 1 + C T HNSC 32937575 + 32937555 32937595 41 TCTTAAAGAATGGCAGACTGACAGTTGGTCAGAAGATTATT TCTTAAAGAATGGCAGACTGACAGTTGGTTAGAAGATTATT < 41bp 1 0.428607242922966 1 0.408897817134857 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32937575 chr13:32937584 stopgain 0.998 1 hm6A_associated_SNPs_40479 1 Pathogenic Hereditary breast and ovarian cancer syndrome RCV000496216.1
2677 chr7 128489488 128489488 1 + G A HNSC 128489468 + 128489448 128489488 41 CAGCCGGTGAGGGGAAGGTGACATGCACGGTGTCCACGCCG CAGCCGGTGAGGGGAAGGTGACATGCACGGTGTCCACGCCA < 41bp 1 0.380152367296358 1 0.900938212871552 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 41 FLNC ENSG00000128591 CDS Human protein_coding chr7:128489468 chr7:128489488 synonymous SNV . 0 hm6A_associated_SNPs_40655 1 Likely benign not specified RCV000427923.1
2678 chr12 53346565 53346565 1 + G A HNSC 53346555 + 53346535 53346575 41 CCATGCAAACCATCCAAAAGACCACCACCCGCCGGATAGTG CCATGCAAACCATCCAAAAGACCACCACCCACCGGATAGTG < 41bp 1 0.603248908639386 1 0.692980766296387 experiment 0.793502182721228 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 31 KRT18 ENSG00000111057 CDS Human protein_coding chr12:53346555 chr12:53346565 nonsynonymous SNV 0.997 1 hm6A_associated_SNPs_40700 1 not provided not provided RCV000056432.1
2679 chr3 37059048 37059048 1 + C T HNSC 37059066 + 37059046 37059086 41 TGCAGCCTATTTGCCCAAAAACACACACCCATTCCTGTACC TGTAGCCTATTTGCCCAAAAACACACACCCATTCCTGTACC < 41bp 1 0.691057314737512 1 0.000574767589569092 experiment 0.617885370524976 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 3 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37059066 chr3:37059048 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_41054 1 Pathogenic Lynch syndrome RCV000075883.2
2680 chr13 49027168 49027168 1 + C T HNSC 49027155 + 49027135 49027175 41 CCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGG CCTTTATTTGATCTTATTAAACAATCAAAGGACTGAGAAGG < 41bp 1 0.54835151273451 1 0.800342082977295 experiment 0.903296974530979 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 34 RB1 ENSG00000139687 CDS Human protein_coding chr13:49027155 chr13:49027168 stopgain 0.952 0 hm6A_associated_SNPs_41283 2 other Retinoblastoma RCV000114677.2
2681 chr13 49027168 49027168 1 + C T HNSC 49027155 + 49027135 49027175 41 CCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGG CCTTTATTTGATCTTATTAAACAATCAAAGGACTGAGAAGG < 41bp 1 0.54835151273451 1 0.800342082977295 experiment 0.903296974530979 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 34 RB1 ENSG00000139687 CDS Human protein_coding chr13:49027155 chr13:49027168 stopgain 0.952 0 hm6A_associated_SNPs_41283 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000492238.1
2682 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Uterine Carcinosarcoma RCV000420373.1
2683 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Colorectal Neoplasms RCV000422450.1
2684 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Adenocarcinoma of lung RCV000423122.1
2685 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Malignant neoplasm of body of uterus RCV000430627.1
2686 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Neoplasm of the breast RCV000432728.1
2687 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Adenocarcinoma of stomach RCV000433386.1
2688 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Adenocarcinoma of prostate RCV000440118.1
2689 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Squamous cell carcinoma of the head and neck RCV000440878.1
2690 chr19 52715983 52715983 1 + G A HNSC 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCAGG < 41bp 1 0.557503922382745 1 0.083726704120636 experiment 0.884992155234511 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 39 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715983 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_41511 9 Likely pathogenic Ovarian Serous Cystadenocarcinoma RCV000444029.1
2691 chr3 139069822 139069822 1 + A G HNSC 139069835 + 139069815 139069855 41 TTAGACTATGTATAGCCAGGACAGGCATGTTGATGTCCTCA TTAGACTGTGTATAGCCAGGACAGGCATGTTGATGTCCTCA < 41bp 1 0.714765837827378 1 0.000187814235687256 experiment 0.570468324345245 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31548708;GSE125780;DART-seq;HEK293T;Control 8 MRPS22 ENSG00000175110 CDS Human protein_coding chr3:139069835 chr3:139069822 nonsynonymous SNV 0.969 1 hm6A_associated_SNPs_41678 1 Uncertain significance Combined oxidative phosphorylation deficiency RCV000316625.1
2692 chr11 65978707 65978707 1 + G A KICH 65978698 + 65978678 65978718 41 GGACCATCTTGGGCTATAAGACCTTGGCCGTGGGACTCATC GGACCATCTTGGGCTATAAGACCTTGGCCATGGGACTCATC < 41bp 1 0.109987960939978 1 0.995339751243591 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 30 PACS1 ENSG00000175115 CDS Human protein_coding chr11:65978698 chr11:65978707 nonsynonymous SNV 0.977 0 hm6A_associated_SNPs_41752 1 Likely benign not specified RCV000499697.1
2693 chr11 65978707 65978707 1 + G A KICH 65978712 + 65978692 65978732 41 TATAAGACCTTGGCCGTGGGACTCATCAACATGGCAGAGGT TATAAGACCTTGGCCATGGGACTCATCAACATGGCAGAGGT < 41bp 1 0.155205952269174 1 0.998609900474548 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 16 PACS1 ENSG00000175115 CDS Human protein_coding chr11:65978712 chr11:65978707 nonsynonymous SNV 0.977 0 hm6A_associated_SNPs_41753 1 Likely benign not specified RCV000499697.1
2694 chr3 10191593 10191593 1 + A T KIRC 10191597 + 10191577 10191617 41 CCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGG CCACCCAAATGTGCAGTAAGACCTGGAGCGGCTGACACAGG < 41bp 1 0.551606340991385 1 0.944393157958984 experiment 0.896787318017229 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 17 VHL ENSG00000134086 CDS Human protein_coding chr3:10191597 chr3:10191593 stopgain 0.979 1 hm6A_associated_SNPs_41861 1 Pathogenic Von Hippel-Lindau syndrome RCV000177084.2
2695 chr3 10191540 10191540 1 + T C KIRC 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACCGGACATCGTCAGGTCGCT < 41bp 1 0.475173499325001 1 0.87084287405014 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 23 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191540 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_41873 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000492520.1
2696 chr3 10191590 10191590 1 + C T KIRC 10191597 + 10191577 10191617 41 CCACCCAAATGTGCAGAAAGACCTGGAGCGGCTGACACAGG CCACCCAAATGTGTAGAAAGACCTGGAGCGGCTGACACAGG < 41bp 1 0.595899247457443 1 0.960739135742188 experiment 0.808201505085114 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 14 VHL ENSG00000134086 CDS Human protein_coding chr3:10191597 chr3:10191590 stopgain 0.941 0 hm6A_associated_SNPs_41880 1 Pathogenic Hereditary cancer-predisposing syndrome RCV000492237.1
2697 chr2 179404241 179404241 1 + G A KIRC 179404243 + 179404223 179404263 41 CCACCAGAGATGTACCTCGGACTCTGGAATCAATGGTATAC CCACCAGAGATGTACCTCAGACTCTGGAATCAATGGTATAC < 41bp 1 0.714921333647974 1 0.966674447059631 experiment 0.570157332704052 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 19 TTN ENSG00000155657 CDS Human protein_coding chr2:179404243 chr2:179404241 stopgain 1.000 0 hm6A_associated_SNPs_41883 1 Uncertain significance Primary dilated cardiomyopathy RCV000209760.1
2698 chr3 10188215 10188215 1 + A G KIRC 10188227 + 10188207 10188247 41 GGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTT GGCTCTTCGGAGATGCAGGGACACACGATGGGCTTCTGGTT < 41bp 1 0.610461600446411 1 0.246575862169266 experiment 0.779076799107179 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 VHL ENSG00000134086 CDS Human protein_coding chr3:10188227 chr3:10188215 nonsynonymous SNV 0.996 4 hm6A_associated_SNPs_42015 1 Likely pathogenic Von Hippel-Lindau syndrome RCV000208800.1
2699 chr3 10188287 10188287 1 + G T KIRC 10188289 + 10188269 10188309 41 CCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATAT CCATCTCTCAATGTTGACTGACAGCCTATTTTTGCCAATAT < 41bp 1 0.657338892719618 1 0.00375291705131531 experiment 0.685322214560764 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 19 VHL ENSG00000134086 CDS Human protein_coding chr3:10188289 chr3:10188287 stopgain 1.000 1 hm6A_associated_SNPs_42091 1 Likely pathogenic Von Hippel-Lindau syndrome RCV000208850.1
2700 chr3 10191558 10191558 1 + T C KIRC 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCC < 41bp 1 0.757937332887143 1 0.971416294574738 experiment 0.484125334225714 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 41 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191558 nonsynonymous SNV 0.135 5 hm6A_associated_SNPs_42109 1 Pathogenic not provided RCV000484822.1
2701 chr6 31635711 31635711 1 + C T KIRC 31635724 + 31635704 31635744 41 TCACTATCGACAAGCTCTAGACATGATCTTGGACCTGGAGC TCACTATTGACAAGCTCTAGACATGATCTTGGACCTGGAGC < 41bp 1 0.664747016194312 1 0.170979619026184 experiment 0.670505967611377 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 8 CSNK2B ENSG00000204435;ENSG00000263020 CDS Human other chr6:31635724 chr6:31635711 stopgain 1.000 1 hm6A_associated_SNPs_42163 1 Uncertain significance not specified RCV000489094.1
2702 chr12 110029066 110029066 1 + C G KIRC 110029073 + 110029053 110029093 41 AGATCGTGGCCCCCCTCCTGACCTCAATAGATGCCATCTCC AGATCGTGGCCCCGCTCCTGACCTCAATAGATGCCATCTCC < 41bp 1 0.159078075948676 1 0.0703684389591217 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 14 MVK ENSG00000110921 CDS Human protein_coding chr12:110029073 chr12:110029066 synonymous SNV . 0 hm6A_associated_SNPs_42255 1 Benign not specified RCV000236622.1
2703 chr3 10188210 10188210 1 + T C KIRC 10188227 + 10188207 10188247 41 GGCTCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTT GGCCCTTCAGAGATGCAGGGACACACGATGGGCTTCTGGTT < 41bp 1 0.620293985484294 1 0.125238090753555 experiment 0.759412029031412 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 VHL ENSG00000134086 CDS Human protein_coding chr3:10188227 chr3:10188210 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_42325 1 Pathogenic Hereditary cancer-predisposing syndrome RCV000492175.1
2704 chr3 10188302 10188302 1 + G C KIRC 10188289 + 10188269 10188309 41 CCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATAT CCATCTCTCAATGTTGACGGACAGCCTATTTTTCCCAATAT < 41bp 1 0.699541944578682 1 0.0279639661312103 experiment 0.600916110842637 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 34 VHL ENSG00000134086 CDS Human protein_coding chr3:10188289 chr3:10188302 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_42332 1 Uncertain significance Von Hippel-Lindau syndrome RCV000208855.1
2705 chr1 247587695 247587695 1 + C T LGG 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGACGAGCACATAGGACTGCTCTGCACTGACTGGCA < 41bp 1 0.471849138648851 1 0.999663889408112 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 23 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587695 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_42726 5 not provided Familial cold urticaria RCV000084253.1
2706 chr1 247587695 247587695 1 + C T LGG 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGACGAGCACATAGGACTGCTCTGCACTGACTGGCA < 41bp 1 0.471849138648851 1 0.999663889408112 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 23 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587695 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_42726 5 Uncertain significance not specified RCV000213159.1
2707 chr1 247587695 247587695 1 + C T LGG 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGACGAGCACATAGGACTGCTCTGCACTGACTGGCA < 41bp 1 0.471849138648851 1 0.999663889408112 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 23 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587695 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_42726 5 Likely benign Familial cold autoinflammatory syndrome RCV000287154.1
2708 chr1 247587695 247587695 1 + C T LGG 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGACGAGCACATAGGACTGCTCTGCACTGACTGGCA < 41bp 1 0.471849138648851 1 0.999663889408112 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 23 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587695 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_42726 5 Likely benign Familial amyloid nephropathy with urticaria AND deafness RCV000344447.1
2709 chr1 247587695 247587695 1 + C T LGG 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGACGAGCACATAGGACTGCTCTGCACTGACTGGCA < 41bp 1 0.471849138648851 1 0.999663889408112 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 23 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587695 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_42726 5 Likely benign Chronic infantile neurological, cutaneous and articular syndrome RCV000378566.1
2710 chrX 128703312 128703312 1 + A G LGG 128703328 + 128703308 128703348 41 AATTATCGGAGTCACATGGAACTGAAAACCAGCGACCACAA AATTGTCGGAGTCACATGGAACTGAAAACCAGCGACCACAA < 41bp 1 0.18694507865584 1 0.207958906888962 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 5 OCRL ENSG00000122126 CDS Human protein_coding chrX:128703328 chrX:128703312 nonsynonymous SNV 0.994 5 hm6A_associated_SNPs_42762 1 not provided Lowe syndrome RCV000059598.1
2711 chr2 149227787 149227787 1 + G A LGG 149227806 + 149227786 149227826 41 CGTGCACTGCCACAATGCAAACACTAACTTTGTTCACAGTA CATGCACTGCCACAATGCAAACACTAACTTTGTTCACAGTA < 41bp 1 0.675355612396626 1 0.855801343917847 experiment 0.649288775206748 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 2 MBD5 ENSG00000204406 CDS Human protein_coding chr2:149227806 chr2:149227787 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_42811 1 Uncertain significance Mental retardation, autosomal dominant 1 RCV000461219.1
2712 chr15 63336271 63336271 1 + G A LGG 63336258 + 63336238 63336278 41 CTGGTGTCACTGCAAAAGAAACTCAAGGGCACCGAAGATGA CTGGTGTCACTGCAAAAGAAACTCAAGGGCACCAAAGATGA < 41bp 1 0.424491913924649 1 0.998684644699097 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 TPM1 ENSG00000140416 CDS Human protein_coding chr15:63336258 chr15:63336271 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_43073 2 Pathogenic Dilated cardiomyopathy 1Y RCV000013274.22
2713 chr15 63336271 63336271 1 + G A LGG 63336258 + 63336238 63336278 41 CTGGTGTCACTGCAAAAGAAACTCAAGGGCACCGAAGATGA CTGGTGTCACTGCAAAAGAAACTCAAGGGCACCAAAGATGA < 41bp 1 0.424491913924649 1 0.998684644699097 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 TPM1 ENSG00000140416 CDS Human protein_coding chr15:63336258 chr15:63336271 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_43073 2 Pathogenic not provided RCV000159370.3
2714 chr15 63336271 63336271 1 + G A LGG 63336279 + 63336259 63336299 41 CTCAAGGGCACCGAAGATGAACTGGACAAATACTCTGAGGC CTCAAGGGCACCAAAGATGAACTGGACAAATACTCTGAGGC < 41bp 1 0.462398526148008 1 0.998236656188965 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 TPM1 ENSG00000140416 CDS Human protein_coding chr15:63336279 chr15:63336271 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_43074 2 Pathogenic Dilated cardiomyopathy 1Y RCV000013274.22
2715 chr15 63336271 63336271 1 + G A LGG 63336279 + 63336259 63336299 41 CTCAAGGGCACCGAAGATGAACTGGACAAATACTCTGAGGC CTCAAGGGCACCAAAGATGAACTGGACAAATACTCTGAGGC < 41bp 1 0.462398526148008 1 0.998236656188965 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 TPM1 ENSG00000140416 CDS Human protein_coding chr15:63336279 chr15:63336271 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_43074 2 Pathogenic not provided RCV000159370.3
2716 chr13 32907209 32907209 1 + G A LGG 32907198 + 32907178 32907218 41 AGGTCATATGACTGATCCAAACTTTAAAAAAGAAACTGAAG AGGTCATATGACTGATCCAAACTTTAAAAAAAAAACTGAAG < 41bp 1 0.66987049595763 1 0.997990608215332 experiment 0.66025900808474 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 32 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907198 chr13:32907209 nonsynonymous SNV 0.153 0 hm6A_associated_SNPs_43086 3 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000168550.2
2717 chr13 32907209 32907209 1 + G A LGG 32907198 + 32907178 32907218 41 AGGTCATATGACTGATCCAAACTTTAAAAAAGAAACTGAAG AGGTCATATGACTGATCCAAACTTTAAAAAAAAAACTGAAG < 41bp 1 0.66987049595763 1 0.997990608215332 experiment 0.66025900808474 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 32 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907198 chr13:32907209 nonsynonymous SNV 0.153 0 hm6A_associated_SNPs_43086 3 Uncertain significance Breast-ovarian cancer, familial 2 RCV000210974.1
2718 chr13 32907209 32907209 1 + G A LGG 32907198 + 32907178 32907218 41 AGGTCATATGACTGATCCAAACTTTAAAAAAGAAACTGAAG AGGTCATATGACTGATCCAAACTTTAAAAAAAAAACTGAAG < 41bp 1 0.66987049595763 1 0.997990608215332 experiment 0.66025900808474 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 32 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907198 chr13:32907209 nonsynonymous SNV 0.153 0 hm6A_associated_SNPs_43086 3 Uncertain significance not specified RCV000502252.1
2719 chr5 36985704 36985704 1 + C T LGG 36985694 + 36985674 36985714 41 GCTGAAGCCTTAAAGCAGAGACCTGATGGGCGATCTGTTTC GCTGAAGCCTTAAAGCAGAGACCTGATGGGTGATCTGTTTC < 41bp 1 0.7628290662932 1 0.903879165649414 experiment 0.4743418674136 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 31 NIPBL ENSG00000164190 CDS Human protein_coding chr5:36985694 chr5:36985704 stopgain 0.999 1 hm6A_associated_SNPs_43142 1 Pathogenic Cornelia de Lange syndrome 1 RCV000146543.1
2720 chr5 218471 218471 1 + A G LGG 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACGTGTCGGGGGTCCGGGGCC Direct Loss 1 0.300952542637931 1 0.815967798233032 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218471 nonsynonymous SNV 0.003 1 hm6A_associated_SNPs_43145 2 Likely pathogenic Mitochondrial complex II deficiency RCV000230468.2
2721 chr5 218471 218471 1 + A G LGG 218469 + 218449 218489 41 CTGCGCGGCGGCAACAGCAGACATGTCGGGGGTCCGGGGCC CTGCGCGGCGGCAACAGCAGACGTGTCGGGGGTCCGGGGCC Direct Loss 1 0.300952542637931 1 0.815967798233032 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 23 SDHA ENSG00000073578 CDS Human protein_coding chr5:218469 chr5:218471 nonsynonymous SNV 0.003 1 hm6A_associated_SNPs_43145 2 Likely pathogenic Paragangliomas 5 RCV000230468.2
2722 chr1 193218979 193218979 1 + C T LGG 193218991 + 193218971 193219011 41 TGTTCTTACGGTTTTGGGAAACATTGGACAGGTAATTCCGA TGTTCTTATGGTTTTGGGAAACATTGGACAGGTAATTCCGA < 41bp 1 0.379235620559304 1 0.831507980823517 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 CDC73 ENSG00000134371 CDS Human protein_coding chr1:193218991 chr1:193218979 nonsynonymous SNV 0.958 2 hm6A_associated_SNPs_43192 1 Uncertain significance Parathyroid carcinoma RCV000456380.1
2723 chr6 157256605 157256605 1 + G A LGG 157256601 + 157256581 157256621 41 TGTTTGTGTTTTTTTTTAGGACATGTCTCAGGAAGGCTATG TGTTTGTGTTTTTTTTTAGGACATATCTCAGGAAGGCTATG < 41bp 1 0.153617389774028 1 0.571047127246857 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 25 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157256601 chr6:157256605 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_43380 1 Likely benign not specified RCV000192963.1
2724 chr11 108163424 108163424 1 + C T LGG 108163419 + 108163399 108163439 41 TATTAAGTCAGGTTTGCCAGACAGCCGTGACTTACTGTAAG TATTAAGTCAGGTTTGCCAGACAGCTGTGACTTACTGTAAG < 41bp 1 0.413922211945027 1 0.649438202381134 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 26 ATM ENSG00000149311 CDS Human protein_coding chr11:108163419 chr11:108163424 synonymous SNV . 0 hm6A_associated_SNPs_43692 1 Likely benign Hereditary cancer-predisposing syndrome RCV000163810.1
2725 chr2 47705575 47705575 1 + A G LGG 47705558 + 47705538 47705578 41 TTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCA TTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAGTCA < 41bp 1 0.31789926354501 1 0.906407117843628 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 38 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47705558 chr2:47705575 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_43757 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000132529.2
2726 chr2 47705575 47705575 1 + A G LGG 47705558 + 47705538 47705578 41 TTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAATCA TTTGCAACCCATTTTCATGAACTTACTGCCTTGGCCAGTCA < 41bp 1 0.31789926354501 1 0.906407117843628 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control 38 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47705558 chr2:47705575 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_43757 2 Uncertain significance Lynch syndrome I RCV000409026.1
2727 chr15 91347430 91347430 1 + G A LIHC 91347438 + 91347418 91347458 41 AATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAGTAGCAAA AATTCCAGCAGTATGAAAAAACAAAAAGCGTTAGTAGCAAA < 41bp 1 0.613049511500422 1 0.0131049752235413 experiment 0.773900976999155 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;Control 13 BLM ENSG00000197299 CDS Human protein_coding chr15:91347438 chr15:91347430 nonsynonymous SNV 0.952 0 hm6A_associated_SNPs_43826 2 Likely benign not specified RCV000115308.2
2728 chr15 91347430 91347430 1 + G A LIHC 91347438 + 91347418 91347458 41 AATTCCAGCAGTGTGAAAAAACAAAAAGCGTTAGTAGCAAA AATTCCAGCAGTATGAAAAAACAAAAAGCGTTAGTAGCAAA < 41bp 1 0.613049511500422 1 0.0131049752235413 experiment 0.773900976999155 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31548708;GSE125780;DART-seq;HEK293T;Control 13 BLM ENSG00000197299 CDS Human protein_coding chr15:91347438 chr15:91347430 nonsynonymous SNV 0.952 0 hm6A_associated_SNPs_43826 2 Likely benign Bloom syndrome RCV000471443.1
2729 chr17 26723014 26723014 1 + A G LIHC 26723012 + 26722992 26723032 41 GCCCCAGGTCCTGCCTGAGGACATGCAGGCTGTGCTTACTT GCCCCAGGTCCTGCCTGAGGACGTGCAGGCTGTGCTTACTT Direct Loss 1 0.232813704440954 1 0.834653377532959 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control 23 SARM1 ENSG00000004139 CDS Human protein_coding chr17:26723012 chr17:26723014 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_43865 1 Uncertain significance Congenital defect of folate absorption RCV000371910.1
2730 chr18 29126582 29126582 1 + G C LIHC 29126567 + 29126547 29126587 41 AAATTCTATGACGGCTAGGAACACCACGGTGTCTGGAGCTG AAATTCTATGACGGCTAGGAACACCACGGTGTCTGCAGCTG < 41bp 1 0.59277632648954 1 0.0300455093383789 experiment 0.814447347020919 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 36 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126567 chr18:29126582 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_44160 1 Uncertain significance not specified RCV000483589.1
2731 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Uterine cervical neoplasms RCV000419464.1
2732 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Adenocarcinoma of prostate RCV000419658.1
2733 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Hepatocellular carcinoma RCV000424491.1
2734 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Transitional cell carcinoma of the bladder RCV000426018.1
2735 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Adenocarcinoma of stomach RCV000430355.1
2736 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Medulloblastoma RCV000430984.1
2737 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Malignant neoplasm of body of uterus RCV000435198.1
2738 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Parathyroid gland neoplasm RCV000435831.1
2739 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Oesophageal carcinoma RCV000436705.1
2740 chr3 41266112 41266112 1 + T G LIHC 41266098 + 41266078 41266118 41 GCAGCAACAGTCTTACCTGGACTCTGGAATCCATTCTGGTG GCAGCAACAGTCTTACCTGGACTCTGGAATCCATGCTGGTG < 41bp 1 0.514878820667269 1 0.968716621398926 experiment 0.970242358665462 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 35 CTNNB1 ENSG00000168036 CDS Human protein_coding chr3:41266098 chr3:41266112 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_45135 10 Likely pathogenic Adenocarcinoma of lung RCV000444358.1
2741 chr12 58145430 58145430 1 + C A LUAD 58145446 - 58145426 58145466 41 TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCTTGAT < 41bp 1 0.784641890936425 1 0.861845254898071 experiment 0.430716218127151 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 37 CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145446 chr12:58145430 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_45358 3 Likely pathogenic Malignant melanoma of skin RCV000427015.1
2742 chr12 58145430 58145430 1 + C A LUAD 58145446 - 58145426 58145466 41 TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCTTGAT < 41bp 1 0.784641890936425 1 0.861845254898071 experiment 0.430716218127151 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 37 CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145446 chr12:58145430 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_45358 3 Likely pathogenic Adenocarcinoma of lung RCV000431833.1
2743 chr12 58145430 58145430 1 + C A LUAD 58145446 - 58145426 58145466 41 TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCTTGAT < 41bp 1 0.784641890936425 1 0.861845254898071 experiment 0.430716218127151 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 37 CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145446 chr12:58145430 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_45358 3 Likely pathogenic Multiple myeloma RCV000442117.1
2744 chr1 171061893 171061893 1 + G A LUAD 171061906 + 171061886 171061926 41 CTGCTTTGAGAAGAGCAATGACATTGGGGGCCTGTGGAAAT CTGCTTTAAGAAGAGCAATGACATTGGGGGCCTGTGGAAAT < 41bp 1 0.461193504929717 1 0.00243028998374939 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 8 FMO3 ENSG00000007933 CDS Human protein_coding chr1:171061906 chr1:171061893 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_45430 1 Pathogenic Trimethylaminuria RCV000017709.28
2745 chr19 11132545 11132545 1 + C T LUAD 11132531 + 11132511 11132551 41 GACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGG GACGGGCACACCGCTGCAGAACAAGCTTCCCGAGTTCTGGG < 41bp 1 0.795303401320949 1 0.964154422283173 experiment 0.409393197358102 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 35 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11132531 chr19:11132545 nonsynonymous SNV 0.991 5 hm6A_associated_SNPs_45527 2 Pathogenic Mental retardation, autosomal dominant 16 RCV000023287.4
2746 chr19 11132545 11132545 1 + C T LUAD 11132531 + 11132511 11132551 41 GACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGG GACGGGCACACCGCTGCAGAACAAGCTTCCCGAGTTCTGGG < 41bp 1 0.795303401320949 1 0.964154422283173 experiment 0.409393197358102 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 35 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11132531 chr19:11132545 nonsynonymous SNV 0.991 5 hm6A_associated_SNPs_45527 2 not provided not provided RCV000059686.1
2747 chr19 1220706 1220706 1 + G T LUAD 1220692 + 1220672 1220712 41 CTTCTCCGGCTTCAAGGTGGACATCTGGTCGGCTGGGGTCA CTTCTCCGGCTTCAAGGTGGACATCTGGTCGGCTTGGGTCA < 41bp 1 0.5810525780772 1 0.982661426067352 experiment 0.8378948438456 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 35 STK11 ENSG00000118046 CDS Human protein_coding chr19:1220692 chr19:1220706 nonsynonymous SNV 0.936 5 hm6A_associated_SNPs_45614 1 Uncertain significance Peutz-Jeghers syndrome RCV000226562.1
2748 chr13 32907276 32907276 1 + G T LUAD 32907267 + 32907247 32907287 41 TGTTTGCTCACAGAAGGAGGACTCCTTATGTCCAAATTTAA TGTTTGCTCACAGAAGGAGGACTCCTTATTTCCAAATTTAA < 41bp 1 0.704810354307109 1 0.99236011505127 experiment 0.590379291385782 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 30 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907267 chr13:32907276 nonsynonymous SNV 0.980 1 hm6A_associated_SNPs_45757 1 Uncertain significance not specified RCV000173631.1
2749 chr2 47637443 47637443 1 + C T LUAD 47637451 + 47637431 47637471 41 GCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACC GCTCTCCTCATCTAGATTGGACCAAAGGAATGTGTTTTACC < 41bp 1 0.436669729313941 1 0.934741616249084 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637451 chr2:47637443 stopgain 1.000 1 hm6A_associated_SNPs_45810 2 Pathogenic Lynch syndrome RCV000076645.2
2750 chr2 47637443 47637443 1 + C T LUAD 47637451 + 47637431 47637471 41 GCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACC GCTCTCCTCATCTAGATTGGACCAAAGGAATGTGTTTTACC < 41bp 1 0.436669729313941 1 0.934741616249084 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637451 chr2:47637443 stopgain 1.000 1 hm6A_associated_SNPs_45810 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000490948.1
2751 chr12 112888228 112888228 1 + A G LUAD 112888233 + 112888213 112888253 41 TTGGTCCAGTATTACATGGAACATCACGGGCAATTAAAAGA TTGGTCCAGTATTACGTGGAACATCACGGGCAATTAAAAGA < 41bp 1 0.753218427502696 1 0.845591604709625 experiment 0.493563144994609 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 16 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112888233 chr12:112888228 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_45900 1 Uncertain significance not specified RCV000033481.6
2752 chr16 2136314 2136314 1 + G A LUAD 2136300 + 2136280 2136320 41 GCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGGGAGGCC GCTGAAGGACTGCCAGCCGGACAAGGTGTACCTGAGAGGCC < 41bp 1 0.706255267935293 1 0.983048498630524 experiment 0.587489464129415 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control 35 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2136300 chr16:2136314 nonsynonymous SNV 0.325 5 hm6A_associated_SNPs_45973 1 not provided Tuberous sclerosis syndrome RCV000042724.2
2753 chr2 48025765 48025765 1 + G A LUAD 48025768 + 48025748 48025788 41 AGGTAGGCACAACTTACGTAACAGATAAGAGTGAAGAAGAT AGGTAGGCACAACTTACATAACAGATAAGAGTGAAGAAGAT < 41bp 1 0.721546533501888 1 0.443810164928436 experiment 0.556906932996224 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48025768 chr2:48025765 nonsynonymous SNV 0.053 0 hm6A_associated_SNPs_46038 2 Uncertain significance Lynch syndrome RCV000197162.2
2754 chr2 48025765 48025765 1 + G A LUAD 48025768 + 48025748 48025788 41 AGGTAGGCACAACTTACGTAACAGATAAGAGTGAAGAAGAT AGGTAGGCACAACTTACATAACAGATAAGAGTGAAGAAGAT < 41bp 1 0.721546533501888 1 0.443810164928436 experiment 0.556906932996224 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 18 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48025768 chr2:48025765 nonsynonymous SNV 0.053 0 hm6A_associated_SNPs_46038 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000220344.1
2755 chr17 29652932 29652932 1 + G T LUAD 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTGTACCTTACCCATACCGGGCCTA Direct Loss 1 0.608608601395974 1 0.837794899940491 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 20 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652932 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_46200 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000492361.1
2756 chr4 159627914 159627914 1 + G A LUAD 159627902 + 159627882 159627922 41 CTGAGTGGTACTAATCATGAACATGACCAGCCGGCACACTT CTGAGTGGTACTAATCATGAACATGACCAGCCAGCACACTT < 41bp 1 0.761070174409084 1 0.973871469497681 experiment 0.477859651181832 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31548708;GSE125780;DART-seq;HEK293T;Control 33 ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627902 chr4:159627914 synonymous SNV . 0 hm6A_associated_SNPs_46211 1 Likely benign not specified RCV000429835.1
2757 chr1 154543958 154543958 1 + C T LUAD 154543967 + 154543947 154543987 41 CGACGACTCTACGTACGTGGACATCACGTATGACTTCATCA CGACGACTCTATGTACGTGGACATCACGTATGACTTCATCA < 41bp 1 0.756552487838557 1 0.999658942222595 experiment 0.486895024322885 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 12 CHRNB2 ENSG00000160716 CDS Human protein_coding chr1:154543967 chr1:154543958 nonsynonymous SNV 0.987 3 hm6A_associated_SNPs_46231 1 Uncertain significance not specified RCV000186990.1
2758 chr7 128484762 128484762 1 + G A LUAD 128484744 + 128484724 128484764 41 GGCCCGGGTCTCAAGGGTGGACTGGTAGGCACCCCCGCGCC GGCCCGGGTCTCAAGGGTGGACTGGTAGGCACCCCCGCACC < 41bp 1 0.221475637254126 1 0.732113122940063 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 39 FLNC ENSG00000128591 CDS Human protein_coding chr7:128484744 chr7:128484762 synonymous SNV . 0 hm6A_associated_SNPs_46235 1 Uncertain significance not specified RCV000176185.1
2759 chr11 108124619 108124619 1 + G T LUAD 108124615 + 108124595 108124635 41 ATTTCTTCAGACAACTTTTGACAAGATGGACTTTTTAACCA ATTTCTTCAGACAACTTTTGACAATATGGACTTTTTAACCA < 41bp 1 0.409424821632047 1 0.979536950588226 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 ATM ENSG00000149311 CDS Human protein_coding chr11:108124615 chr11:108124619 nonsynonymous SNV 0.998 0 hm6A_associated_SNPs_46348 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000474729.1
2760 chr13 32911425 32911425 1 + A G LUAD 32911413 + 32911393 32911433 41 AGGTCAAGATTTAAAATCGGACATCTCCTTGAATATAGATA AGGTCAAGATTTAAAATCGGACATCTCCTTGAGTATAGATA < 41bp 1 0.792502921728618 1 0.94589638710022 experiment 0.414994156542763 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 33 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911413 chr13:32911425 nonsynonymous SNV 0.014 1 hm6A_associated_SNPs_46410 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000216885.1
2761 chr8 75263639 75263639 1 + G C LUAD 75263645 + 75263625 75263665 41 TGTCCTTATCCACGGGGAAAACATAATTTGTGAGGCCACTC TGTCCTTATCCACGCGGAAAACATAATTTGTGAGGCCACTC < 41bp 1 0.687934258994796 1 0.226095944643021 experiment 0.624131482010408 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 GDAP1 ENSG00000104381 CDS Human protein_coding chr8:75263645 chr8:75263639 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_46530 2 Benign not provided RCV000143823.1
2762 chr8 75263639 75263639 1 + G C LUAD 75263645 + 75263625 75263665 41 TGTCCTTATCCACGGGGAAAACATAATTTGTGAGGCCACTC TGTCCTTATCCACGCGGAAAACATAATTTGTGAGGCCACTC < 41bp 1 0.687934258994796 1 0.226095944643021 experiment 0.624131482010408 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 GDAP1 ENSG00000104381 CDS Human protein_coding chr8:75263645 chr8:75263639 nonsynonymous SNV 1.000 0 hm6A_associated_SNPs_46530 2 Uncertain significance not specified RCV000235853.1
2763 chr17 78092457 78092457 1 + G A LUAD 78092453 + 78092433 78092473 41 CTCTCTCTGCTCGGCCCAGAACACGATCGTGAATGAGCTGG CTCTCTCTGCTCGGCCCAGAACACAATCGTGAATGAGCTGG < 41bp 1 0.375238680611558 1 0.572825491428375 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 25 GAA ENSG00000171298 CDS Human protein_coding chr17:78092453 chr17:78092457 synonymous SNV . 0 hm6A_associated_SNPs_46744 1 Uncertain significance not specified RCV000279238.1
2764 chr12 112924336 112924336 1 + G A LUAD 112924318 + 112924298 112924338 41 TCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCGTG TCTGGCAATACCACTTTCGGACCTGGCCGGACCACGGCATG < 41bp 1 0.289483920037172 1 0.925596117973328 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112924318 chr12:112924336 nonsynonymous SNV 0.850 5 hm6A_associated_SNPs_47006 1 Likely pathogenic not provided RCV000033528.4
2765 chr12 112924336 112924336 1 + G A LUAD 112924328 + 112924308 112924348 41 CCACTTTCGGACCTGGCCGGACCACGGCGTGCCCAGCGACC CCACTTTCGGACCTGGCCGGACCACGGCATGCCCAGCGACC < 41bp 1 0.294818369484452 1 0.853690385818481 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112924328 chr12:112924336 nonsynonymous SNV 0.850 5 hm6A_associated_SNPs_47007 1 Likely pathogenic not provided RCV000033528.4
2766 chr17 29652889 29652889 1 + G A LUAD 29652890 + 29652870 29652910 41 TGATATACCATGTCTTACTGACTTTAAAGCCATATTATGCA TGATATACCATGTCTTACTAACTTTAAAGCCATATTATGCA < 41bp 1 0.712956489179048 1 0.74773907661438 experiment 0.574087021641903 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 20 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652890 chr17:29652889 synonymous SNV . 0 hm6A_associated_SNPs_47123 1 Likely benign Neurofibromatosis, type 1 RCV000462739.1
2767 chr2 61272966 61272966 1 + T C LUAD 61272972 + 61272952 61272992 41 CCGGGCTGGTGATATGCTGAACTTAGCTCTCAAAGGTAATA CCGGGCTGGTGATACGCTGAACTTAGCTCTCAAAGGTAATA < 41bp 1 0.248538618674509 1 0.911689341068268 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 15 PEX13 ENSG00000162928 CDS Human protein_coding chr2:61272972 chr2:61272966 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_47254 1 Uncertain significance not specified RCV000177163.1
2768 chr20 61453480 61453480 1 + C T LUAD 61453474 + 61453454 61453494 41 CCTCCCCAGGGACCTTCTGGACTCCCCGGCCTCCCTGGTCC CCTCCCCAGGGACCTTCTGGACTCCCTGGCCTCCCTGGTCC < 41bp 1 0.159257980947907 1 0.807087779045105 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 27 COL9A3 ENSG00000092758 CDS Human protein_coding chr20:61453474 chr20:61453480 synonymous SNV . 0 hm6A_associated_SNPs_47255 1 Uncertain significance Multiple Epiphyseal Dysplasia, Dominant RCV000323649.1
2769 chr6 7569467 7569467 1 + C T LUAD 7569456 + 7569436 7569476 41 GGATGAGTGTATCCTGAAGGACAACAACGAGCGCAGCAAGT GGATGAGTGTATCCTGAAGGACAACAACGAGTGCAGCAAGT < 41bp 1 0.585899116530833 1 0.680421590805054 experiment 0.828201766938335 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 DSP ENSG00000096696 CDS Human protein_coding chr6:7569456 chr6:7569467 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_47428 1 Uncertain significance not specified RCV000181290.2
2770 chr13 32915220 32915220 1 + C G LUAD 32915209 + 32915189 32915229 41 GCTTTTATGGAAGATGATGAACTGACAGATTCTAAACTGCC GCTTTTATGGAAGATGATGAACTGACAGATTGTAAACTGCC < 41bp 1 0.41652857170423 1 0.993542194366455 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32915209 chr13:32915220 nonsynonymous SNV 0.162 4 hm6A_associated_SNPs_47891 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000221235.1
2771 chr13 32915220 32915220 1 + C G LUAD 32915213 + 32915193 32915233 41 TTATGGAAGATGATGAACTGACAGATTCTAAACTGCCAAGT TTATGGAAGATGATGAACTGACAGATTGTAAACTGCCAAGT < 41bp 1 0.560951189215927 1 0.987569868564606 experiment 0.878097621568146 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31548708;GSE125780;DART-seq;HEK293T;Control 28 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32915213 chr13:32915220 nonsynonymous SNV 0.162 4 hm6A_associated_SNPs_47892 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000221235.1
2772 chr9 140671225 140671225 1 + G A LUAD 140671215 + 140671195 140671235 41 GGTGACGATAGCTAAAGCAGACACCACCTCGACCGTGACAC GGTGACGATAGCTAAAGCAGACACCACCTCAACCGTGACAC < 41bp 1 0.459372438697392 1 0.928376138210297 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 31 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140671215 chr9:140671225 synonymous SNV . 0 hm6A_associated_SNPs_48045 2 Uncertain significance not specified RCV000271939.1
2773 chr9 140671225 140671225 1 + G A LUAD 140671215 + 140671195 140671235 41 GGTGACGATAGCTAAAGCAGACACCACCTCGACCGTGACAC GGTGACGATAGCTAAAGCAGACACCACCTCAACCGTGACAC < 41bp 1 0.459372438697392 1 0.928376138210297 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 31 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140671215 chr9:140671225 synonymous SNV . 0 hm6A_associated_SNPs_48045 2 Likely benign Chromosome 9q deletion syndrome RCV000401622.1
2774 chr14 105169539 105169539 1 + C T LUAD 105169531 + 105169511 105169551 41 CTCCCGAGGGCCACGTGCTGACCCTGGACGCCCTGGACCAC CTCCCGAGGGCCACGTGCTGACCCTGGATGCCCTGGACCAC < 41bp 1 0.136311979816895 1 0.897656917572021 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 INF2 ENSG00000203485 CDS Human protein_coding chr14:105169531 chr14:105169539 synonymous SNV . 0 hm6A_associated_SNPs_48571 1 Likely benign not specified RCV000252204.1
2775 chr2 48027856 48027856 1 + T C LUAD 48027851 + 48027831 48027871 41 TGATTTGACTGTAGAATTGAACCGATGGGATACAGCCTTTG TGATTTGACTGTAGAATTGAACCGACGGGATACAGCCTTTG < 41bp 1 0.769458529509223 1 0.996842265129089 experiment 0.461082940981553 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 26 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027851 chr2:48027856 nonsynonymous SNV 0.999 5 hm6A_associated_SNPs_48744 1 Uncertain significance Lynch syndrome RCV000466035.1
2776 chr2 48027856 48027856 1 + T C LUAD 48027872 + 48027852 48027892 41 CCGATGGGATACAGCCTTTGACCATGAAAAGGCTCGAAAGA CCGACGGGATACAGCCTTTGACCATGAAAAGGCTCGAAAGA < 41bp 1 0.793301977242646 1 0.997998833656311 experiment 0.413396045514708 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control|31548708;GSE125780;DART-seq;HEK293T;Control 5 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48027872 chr2:48027856 nonsynonymous SNV 0.999 5 hm6A_associated_SNPs_48745 1 Uncertain significance Lynch syndrome RCV000466035.1
2777 chr2 47637431 47637431 1 + G T LUAD 47637451 + 47637431 47637471 41 GCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACC TCTCTCCTCATCCAGATTGGACCAAAGGAATGTGTTTTACC < 41bp 1 0.459970684550917 1 0.944921612739563 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637451 chr2:47637431 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_48893 1 Uncertain significance Lynch syndrome RCV000076641.2
2778 chr19 1223131 1223131 1 + C T LUAD 1223118 + 1223098 1223138 41 CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATG CGGCGCGGACGAGGACGAGGACCTCTTCGACATTGAGGATG < 41bp 1 0.358693092937715 1 0.998400568962097 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 34 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223118 chr19:1223131 synonymous SNV . 0 hm6A_associated_SNPs_48912 1 Likely benign Peutz-Jeghers syndrome RCV000476064.1
2779 chr5 179250038 179250038 1 + C T LUAD 179250030 + 179250010 179250050 41 CATGTCCTACGTGAAGGATGACATCTTCCGAATCTACATTA CATGTCCTACGTGAAGGATGACATCTTCTGAATCTACATTA < 41bp 1 0.518005565129109 1 0.482376515865326 experiment 0.963988869741783 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 29 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179250030 chr5:179250038 stopgain 0.996 1 hm6A_associated_SNPs_48982 1 Pathogenic Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset RCV000256198.1
2780 chr3 10188296 10188296 1 + A G LUAD 10188289 + 10188269 10188309 41 CCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATAT CCATCTCTCAATGTTGACGGACAGCCTGTTTTTGCCAATAT < 41bp 1 0.687041059442822 1 0.0404792428016663 experiment 0.625917881114355 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 28 VHL ENSG00000134086 CDS Human protein_coding chr3:10188289 chr3:10188296 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_49202 4 Uncertain significance Von Hippel-Lindau syndrome RCV000411268.1
2781 chr3 10188296 10188296 1 + A G LUAD 10188289 + 10188269 10188309 41 CCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATAT CCATCTCTCAATGTTGACGGACAGCCTGTTTTTGCCAATAT < 41bp 1 0.687041059442822 1 0.0404792428016663 experiment 0.625917881114355 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 28 VHL ENSG00000134086 CDS Human protein_coding chr3:10188289 chr3:10188296 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_49202 4 Uncertain significance not specified RCV000455006.1
2782 chr3 10188296 10188296 1 + A G LUAD 10188289 + 10188269 10188309 41 CCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATAT CCATCTCTCAATGTTGACGGACAGCCTGTTTTTGCCAATAT < 41bp 1 0.687041059442822 1 0.0404792428016663 experiment 0.625917881114355 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 28 VHL ENSG00000134086 CDS Human protein_coding chr3:10188289 chr3:10188296 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_49202 4 Uncertain significance Erythrocytosis, familial, 2 RCV000470728.1
2783 chr3 10188296 10188296 1 + A G LUAD 10188289 + 10188269 10188309 41 CCATCTCTCAATGTTGACGGACAGCCTATTTTTGCCAATAT CCATCTCTCAATGTTGACGGACAGCCTGTTTTTGCCAATAT < 41bp 1 0.687041059442822 1 0.0404792428016663 experiment 0.625917881114355 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 28 VHL ENSG00000134086 CDS Human protein_coding chr3:10188289 chr3:10188296 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_49202 4 Uncertain significance Von Hippel-Lindau syndrome RCV000470728.1
2784 chr11 61205509 61205509 1 + A G LUSC 61205491 + 61205471 61205511 41 TTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACAGA TTTAGTCTTTTTGCTAAAGAACATCTGCAGCACATGACGGA < 41bp 1 0.729551485147519 1 0.555248022079468 experiment 0.540897029704962 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 39 SDHAF2 ENSG00000167985;ENSG00000256591 CDS Human other chr11:61205491 chr11:61205509 synonymous SNV . 0 hm6A_associated_SNPs_49563 1 Likely benign Hereditary Paraganglioma-Pheochromocytoma Syndromes RCV000469562.1
2785 chr10 89653814 89653814 1 + C A LUSC 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTACTGCAGAAAGACTTGAAGGCGTATACAGGAA < 41bp 1 0.412599330549802 1 0.913060188293457 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 10 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653814 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_49620 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000214093.1
2786 chr13 32907105 32907105 1 + C T LUSC 32907086 + 32907066 32907106 41 TAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTTCTTCA TAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTTCTTTA < 41bp 1 0.572091422790979 1 0.975895881652832 experiment 0.855817154418042 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 40 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907086 chr13:32907105 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_49690 1 Uncertain significance not specified RCV000486670.1
2787 chr3 58062997 58062997 1 + G A LUSC 58063007 + 58062987 58063027 41 AGCCCTGGGAGCCCTGGTAGACAGCTGTGCTCCAGGTAAGT AGCCCTGGGAACCCTGGTAGACAGCTGTGCTCCAGGTAAGT < 41bp 1 0.169421501927663 1 0.771296858787537 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 11 FLNB ENSG00000136068 CDS Human protein_coding chr3:58063007 chr3:58062997 nonsynonymous SNV 0.991 5 hm6A_associated_SNPs_49767 1 Pathogenic Atelosteogenesis type 1 RCV000114316.2
2788 chr21 47423309 47423309 1 + G A LUSC 47423326 + 47423306 47423346 41 CACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACG CACATTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACG < 41bp 1 0.491722543971443 1 0.98527318239212 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423326 chr21:47423309 synonymous SNV . 0 hm6A_associated_SNPs_50057 2 other not specified RCV000251672.3
2789 chr21 47423309 47423309 1 + G A LUSC 47423326 + 47423306 47423346 41 CACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACG CACATTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACG < 41bp 1 0.491722543971443 1 0.98527318239212 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 4 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423326 chr21:47423309 synonymous SNV . 0 hm6A_associated_SNPs_50057 2 Likely benign Collagen VI-related myopathy RCV000335709.1
2790 chr10 89653815 89653815 1 + C G LUSC 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTCGTGCAGAAAGACTTGAAGGCGTATACAGGAA < 41bp 1 0.403095877978417 1 0.88432377576828 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 11 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653815 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_50109 1 Likely pathogenic not provided RCV000484991.1
2791 chr9 130422343 130422343 1 + C T LUSC 130422340 + 130422320 130422360 41 TCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACC TCTCATCAGTGACTTTAAGGACCTGCCGACTGCTAAATACC < 41bp 1 0.185908087373102 1 0.834790229797363 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 STXBP1 ENSG00000136854 CDS Human protein_coding chr9:130422340 chr9:130422343 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_50618 2 Likely benign not specified RCV000189585.2
2792 chr9 130422343 130422343 1 + C T LUSC 130422340 + 130422320 130422360 41 TCTCATCAGTGACTTTAAGGACCCGCCGACTGCTAAATACC TCTCATCAGTGACTTTAAGGACCTGCCGACTGCTAAATACC < 41bp 1 0.185908087373102 1 0.834790229797363 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 STXBP1 ENSG00000136854 CDS Human protein_coding chr9:130422340 chr9:130422343 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_50618 2 Likely benign Early Infantile Epileptic Encephalopathy, Autosomal Dominant RCV000311412.1
2793 chr4 6303001 6303001 1 + C T LUSC 6302981 + 6302961 6303001 41 ACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTC ACCTGAAGGTCCTTGGCCAGACCTTCATCACCGTGCCTGTT < 41bp 1 0.607367154414324 1 0.998130559921265 experiment 0.785265691171352 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 41 WFS1 ENSG00000109501 CDS Human protein_coding chr4:6302981 chr4:6303001 synonymous SNV . 0 hm6A_associated_SNPs_50689 1 Likely benign not specified RCV000219863.2
2794 chr10 89624297 89624297 1 + A G LUSC 89624302 + 89624282 89624322 41 ATGGATTCGACTTAGACTTGACCTGTATCCATTTCTGCGGC ATGGATTCGACTTAGGCTTGACCTGTATCCATTTCTGCGGC < 41bp 1 0.316187112290646 1 0.99569571018219 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 16 PTEN ENSG00000171862 CDS Human protein_coding chr10:89624302 chr10:89624297 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_50742 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000190739.1
2795 chr10 89624297 89624297 1 + A G LUSC 89624302 + 89624282 89624322 41 ATGGATTCGACTTAGACTTGACCTGTATCCATTTCTGCGGC ATGGATTCGACTTAGGCTTGACCTGTATCCATTTCTGCGGC < 41bp 1 0.316187112290646 1 0.99569571018219 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 16 PTEN ENSG00000171862 CDS Human protein_coding chr10:89624302 chr10:89624297 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_50742 2 Pathogenic PTEN hamartoma tumor syndrome RCV000234212.2
2796 chr17 29653027 29653027 1 + C T LUSC 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCTGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.688523106078108 1 0.755323529243469 experiment 0.622953787843785 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 4 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653027 synonymous SNV . 0 hm6A_associated_SNPs_51081 2 Likely benign Hereditary cancer-predisposing syndrome RCV000221831.1
2797 chr17 29653027 29653027 1 + C T LUSC 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCTGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.688523106078108 1 0.755323529243469 experiment 0.622953787843785 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 4 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653027 synonymous SNV . 0 hm6A_associated_SNPs_51081 2 Likely benign Neurofibromatosis, type 1 RCV000463196.1
2798 chr19 18278049 18278049 1 + G C LUSC 18278062 + 18278042 18278082 41 AGAGATCGACAAGCGCATGAACAGCCTCAAGCCGGACCTCA AGAGATCCACAAGCGCATGAACAGCCTCAAGCCGGACCTCA < 41bp 1 0.702318984383843 1 0.946017146110535 experiment 0.595362031232315 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 8 PIK3R2 ENSG00000105647;ENSG00000268173 CDS Human other chr19:18278062 chr19:18278049 nonsynonymous SNV 0.979 4 hm6A_associated_SNPs_51666 1 Pathogenic not provided RCV000481944.1
2799 chr11 108160384 108160384 1 + A G LUSC 108160377 + 108160357 108160397 41 TATGTGAGCAAGCAGCTGAAACAAATAATGTTTATAAGAAG TATGTGAGCAAGCAGCTGAAACAAATAGTGTTTATAAGAAG < 41bp 1 0.616739229739074 1 0.00157681107521057 experiment 0.766521540521853 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 28 ATM ENSG00000149311 CDS Human protein_coding chr11:108160377 chr11:108160384 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_51891 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000463958.1
2800 chr3 10191556 10191556 1 + G A LUSC 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCACT < 41bp 1 0.770886953612099 1 0.958712697029114 experiment 0.458226092775801 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 39 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191556 synonymous SNV . 0 hm6A_associated_SNPs_52292 3 Likely benign Von Hippel-Lindau syndrome RCV000030590.1
2801 chr3 10191556 10191556 1 + G A LUSC 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCACT < 41bp 1 0.770886953612099 1 0.958712697029114 experiment 0.458226092775801 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 39 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191556 synonymous SNV . 0 hm6A_associated_SNPs_52292 3 Likely benign Erythrocytosis, familial, 2 RCV000459500.1
2802 chr3 10191556 10191556 1 + G A LUSC 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCACT < 41bp 1 0.770886953612099 1 0.958712697029114 experiment 0.458226092775801 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 39 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191556 synonymous SNV . 0 hm6A_associated_SNPs_52292 3 Likely benign Von Hippel-Lindau syndrome RCV000459500.1
2803 chr2 47637509 47637509 1 + C T MESO 47637492 + 47637472 47637512 41 CGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGG CGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGATAGG < 41bp 1 0.631831552428735 1 0.809544742107391 experiment 0.73633689514253 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 38 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637492 chr2:47637509 stopgain 0.992 1 hm6A_associated_SNPs_53234 1 Pathogenic Lynch syndrome RCV000076658.2
2804 chr22 41922431 41922431 1 + G A MESO 41922438 + 41922418 41922458 41 GGAGTTTGGCCCCGTCCCTGACACTGCCCGCTACTACAAGG GGAGTTTGGCCCCATCCCTGACACTGCCCGCTACTACAAGG < 41bp 1 0.523366622396571 1 0.723507761955261 experiment 0.953266755206859 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 14 ACO2 ENSG00000100412 CDS Human protein_coding chr22:41922438 chr22:41922431 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_53239 1 Uncertain significance not provided RCV000054663.1
2805 chr8 61741241 61741241 1 + C T OV 61741259 + 61741239 61741279 41 GACGGGAACCCCACTCCAGAACACTGTGGAAGAACTCTTCA GATGGGAACCCCACTCCAGAACACTGTGGAAGAACTCTTCA < 41bp 1 0.469871782226969 1 0.229800790548325 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 3 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61741259 chr8:61741241 nonsynonymous SNV 0.989 5 hm6A_associated_SNPs_53479 1 Likely pathogenic not provided RCV000479619.1
2806 chr2 211473231 211473231 1 + G A OV 211473242 + 211473222 211473262 41 ATCTTGACCGTTTTCATGGAACATCTAGCCGAATTGGTAGC ATCTTGACCATTTTCATGGAACATCTAGCCGAATTGGTAGC < 41bp 1 0.353995665213737 1 0.501492261886597 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 10 CPS1 ENSG00000021826 CDS Human protein_coding chr2:211473242 chr2:211473231 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_53564 1 Likely pathogenic not provided RCV000414131.1
2807 chr19 52715971 52715971 1 + C G OV 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCGCATGGTGCGGCGGG < 41bp 1 0.571627364797984 1 0.0952585935592651 experiment 0.856745270404031 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 27 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715971 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_53654 2 Likely pathogenic Uterine Carcinosarcoma RCV000433795.1
2808 chr19 52715971 52715971 1 + C G OV 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCGCATGGTGCGGCGGG < 41bp 1 0.571627364797984 1 0.0952585935592651 experiment 0.856745270404031 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 27 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715971 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_53654 2 Likely pathogenic Malignant neoplasm of body of uterus RCV000444299.1
2809 chr17 40842770 40842770 1 + G A OV 40842771 + 40842751 40842791 41 TGCCAGAGAACCGAGCGTGGACAGTTGTGCGGCATGACAGG TGCCAGAGAACCGAGCGTGAACAGTTGTGCGGCATGACAGG < 41bp 1 0.319575584706613 1 0.276376783847809 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 20 CNTNAP1 ENSG00000108797 CDS Human protein_coding chr17:40842771 chr17:40842770 stopgain 1.000 1 hm6A_associated_SNPs_53829 1 Pathogenic Lethal congenital contracture syndrome 7 RCV000225022.1
2810 chr14 89337920 89337920 1 + C T OV 89337934 + 89337914 89337954 41 TTATAACGGCCAGCTTTTTAACAATCTGGGGCTGTGTTGCT TTATAATGGCCAGCTTTTTAACAATCTGGGGCTGTGTTGCT < 41bp 1 0.780853073508325 1 0.579538941383362 experiment 0.438293852983349 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 7 TTC8 ENSG00000165533 CDS Human protein_coding chr14:89337934 chr14:89337920 synonymous SNV . 0 hm6A_associated_SNPs_53916 2 Likely benign Bardet-Biedl syndrome RCV000200657.2
2811 chr14 89337920 89337920 1 + C T OV 89337934 + 89337914 89337954 41 TTATAACGGCCAGCTTTTTAACAATCTGGGGCTGTGTTGCT TTATAATGGCCAGCTTTTTAACAATCTGGGGCTGTGTTGCT < 41bp 1 0.780853073508325 1 0.579538941383362 experiment 0.438293852983349 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 7 TTC8 ENSG00000165533 CDS Human protein_coding chr14:89337934 chr14:89337920 synonymous SNV . 0 hm6A_associated_SNPs_53916 2 Likely benign not specified RCV000249386.1
2812 chr5 135388650 135388650 1 + C T OV 135388667 + 135388647 135388687 41 TTGCGGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTG TTGTGGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTG < 41bp 1 0.148159825475786 1 0.671302556991577 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 4 TGFBI ENSG00000120708 CDS Human protein_coding chr5:135388667 chr5:135388650 nonsynonymous SNV 0.402 2 hm6A_associated_SNPs_53917 1 Uncertain significance Corneal Dystrophy, Dominant RCV000279769.1
2813 chr2 47637373 47637373 1 + A G OV 47637382 + 47637362 47637402 41 GTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCC GTGGATTCCATGCAGAGGAAACTAGGACTGTGTGAATTCCC < 41bp 1 0.387434881748822 1 0.876983046531677 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 12 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637382 chr2:47637373 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_53995 1 Uncertain significance Lynch syndrome RCV000203760.1
2814 chr2 47637373 47637373 1 + A G OV 47637388 + 47637368 47637408 41 TCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA TCCATGCAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA < 41bp 1 0.67535026347644 1 0.959507644176483 experiment 0.649299473047121 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 6 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637388 chr2:47637373 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_53996 1 Uncertain significance Lynch syndrome RCV000203760.1
2815 chr17 41063279 41063279 1 + G A OV 41063298 + 41063278 41063318 41 CGTCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCC CATCCTCCTGCACGTCTTTGACTCCTTGAAACCCCCATCCC < 41bp 1 0.419412305819405 1 0.767689943313599 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HEK293T;Heat_shock 2 G6PC ENSG00000131482 CDS Human protein_coding chr17:41063298 chr17:41063279 nonsynonymous SNV 0.073 0 hm6A_associated_SNPs_54021 1 Uncertain significance not specified RCV000196826.1
2816 chr16 89999920 89999920 1 + G A OV 89999923 + 89999903 89999943 41 TGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCA TGGTGGACCTGGAACCCAGAACCATGGACAGTGTCCGCTCA < 41bp 1 0.583675685039125 1 0.782589435577393 experiment 0.83264862992175 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 18 TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:89999923 chr16:89999920 nonsynonymous SNV 0.953 4 hm6A_associated_SNPs_54205 2 Pathogenic Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement RCV000203606.1
2817 chr16 89999920 89999920 1 + G A OV 89999923 + 89999903 89999943 41 TGGTGGACCTGGAACCCGGAACCATGGACAGTGTCCGCTCA TGGTGGACCTGGAACCCAGAACCATGGACAGTGTCCGCTCA < 41bp 1 0.583675685039125 1 0.782589435577393 experiment 0.83264862992175 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 18 TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:89999923 chr16:89999920 nonsynonymous SNV 0.953 4 hm6A_associated_SNPs_54205 2 Pathogenic not provided RCV000301357.1
2818 chr16 89999920 89999920 1 + G A OV 89999930 + 89999910 89999950 41 CCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCT CCTGGAACCCAGAACCATGGACAGTGTCCGCTCAGGGGCCT < 41bp 1 0.655278369565895 1 0.863508760929108 experiment 0.68944326086821 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 11 TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:89999930 chr16:89999920 nonsynonymous SNV 0.953 4 hm6A_associated_SNPs_54206 2 Pathogenic Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement RCV000203606.1
2819 chr16 89999920 89999920 1 + G A OV 89999930 + 89999910 89999950 41 CCTGGAACCCGGAACCATGGACAGTGTCCGCTCAGGGGCCT CCTGGAACCCAGAACCATGGACAGTGTCCGCTCAGGGGCCT < 41bp 1 0.655278369565895 1 0.863508760929108 experiment 0.68944326086821 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 11 TUBB3 ENSG00000198211;ENSG00000258947 CDS Human other chr16:89999930 chr16:89999920 nonsynonymous SNV 0.953 4 hm6A_associated_SNPs_54206 2 Pathogenic not provided RCV000301357.1
2820 chr20 62559773 62559773 1 + C T OV 62559787 + 62559767 62559807 41 CAAGAACGCAACCTCAGATGACATTAAAAAGTCCTATCGGT CAAGAATGCAACCTCAGATGACATTAAAAAGTCCTATCGGT < 41bp 1 0.622848211980137 1 0.386085510253906 experiment 0.754303576039726 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 DNAJC5 ENSG00000101152 CDS Human protein_coding chr20:62559787 chr20:62559773 synonymous SNV . 0 hm6A_associated_SNPs_54218 2 Uncertain significance not specified RCV000277916.1
2821 chr20 62559773 62559773 1 + C T OV 62559787 + 62559767 62559807 41 CAAGAACGCAACCTCAGATGACATTAAAAAGTCCTATCGGT CAAGAATGCAACCTCAGATGACATTAAAAAGTCCTATCGGT < 41bp 1 0.622848211980137 1 0.386085510253906 experiment 0.754303576039726 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 DNAJC5 ENSG00000101152 CDS Human protein_coding chr20:62559787 chr20:62559773 synonymous SNV . 0 hm6A_associated_SNPs_54218 2 Benign Neuronal ceroid lipofuscinosis RCV000473881.1
2822 chr11 108199898 108199898 1 + C T OV 108199893 + 108199873 108199913 41 GAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA GAAATCATCGGAATTTGAAAACAAGTAAGCTCTCCTGAAAA < 41bp 1 0.719975457410063 1 0.0347826778888702 experiment 0.560049085179875 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 26 ATM ENSG00000149311 CDS Human protein_coding chr11:108199893 chr11:108199898 stopgain 0.998 1 hm6A_associated_SNPs_54225 2 Pathogenic Ataxia-telangiectasia syndrome RCV000200187.3
2823 chr11 108199898 108199898 1 + C T OV 108199893 + 108199873 108199913 41 GAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA GAAATCATCGGAATTTGAAAACAAGTAAGCTCTCCTGAAAA < 41bp 1 0.719975457410063 1 0.0347826778888702 experiment 0.560049085179875 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 26 ATM ENSG00000149311 CDS Human protein_coding chr11:108199893 chr11:108199898 stopgain 0.998 1 hm6A_associated_SNPs_54225 2 Pathogenic Hereditary cancer-predisposing syndrome RCV000492913.1
2824 chr13 49027156 49027156 1 + C T OV 49027155 + 49027135 49027175 41 CCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGG CCTTTATTTGATCTTATTAAATAATCAAAGGACCGAGAAGG Direct Loss 1 0.577999807412059 1 0.279738932847977 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 22 RB1 ENSG00000139687 CDS Human protein_coding chr13:49027155 chr13:49027156 stopgain 0.997 1 hm6A_associated_SNPs_54255 1 Pathogenic Retinoblastoma RCV000114676.1
2825 chr11 108155106 108155106 1 + A G OV 108155121 + 108155101 108155141 41 TGCCTATGAGGGTACCAGAGACAGTGGGATGGCACAGCAAA TGCCTGTGAGGGTACCAGAGACAGTGGGATGGCACAGCAAA < 41bp 1 0.518336009644927 1 0.95904004573822 experiment 0.963327980710146 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 6 ATM ENSG00000149311 CDS Human protein_coding chr11:108155121 chr11:108155106 nonsynonymous SNV 0.991 0 hm6A_associated_SNPs_54265 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000159719.4
2826 chr11 108155106 108155106 1 + A G OV 108155121 + 108155101 108155141 41 TGCCTATGAGGGTACCAGAGACAGTGGGATGGCACAGCAAA TGCCTGTGAGGGTACCAGAGACAGTGGGATGGCACAGCAAA < 41bp 1 0.518336009644927 1 0.95904004573822 experiment 0.963327980710146 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 6 ATM ENSG00000149311 CDS Human protein_coding chr11:108155121 chr11:108155106 nonsynonymous SNV 0.991 0 hm6A_associated_SNPs_54265 3 Uncertain significance not specified RCV000212005.1
2827 chr11 108155106 108155106 1 + A G OV 108155121 + 108155101 108155141 41 TGCCTATGAGGGTACCAGAGACAGTGGGATGGCACAGCAAA TGCCTGTGAGGGTACCAGAGACAGTGGGATGGCACAGCAAA < 41bp 1 0.518336009644927 1 0.95904004573822 experiment 0.963327980710146 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 6 ATM ENSG00000149311 CDS Human protein_coding chr11:108155121 chr11:108155106 nonsynonymous SNV 0.991 0 hm6A_associated_SNPs_54265 3 Uncertain significance Ataxia-telangiectasia syndrome RCV000398586.1
2828 chr22 19751755 19751755 1 + C T OV 19751758 + 19751738 19751778 41 CCGCGTGCACTACCACCCGGACTCGCCTGCCAAGGGCGCGC CCGCGTGCACTACCACCTGGACTCGCCTGCCAAGGGCGCGC < 41bp 1 0.344340929299997 1 0.991901874542236 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 TBX1 ENSG00000184058 CDS Human protein_coding chr22:19751758 chr22:19751755 nonsynonymous SNV 0.989 5 hm6A_associated_SNPs_54530 1 Likely pathogenic not provided RCV000483932.1
2829 chr17 56772420 56772420 1 + G A PAAD 56772413 + 56772393 56772433 41 AAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATAC AAGAAGTGTACAGCACTGGAACTTCTTAAGCAGGAGCATAC < 41bp 1 0.65387235607352 1 0.8127601146698 experiment 0.692255287852961 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 28 RAD51C ENSG00000108384 CDS Human protein_coding chr17:56772413 chr17:56772420 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_54797 1 Uncertain significance Fanconi anemia, complementation group O RCV000226994.2
2830 chr6 7565651 7565651 1 + G A PAAD 7565635 + 7565615 7565655 41 TCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCA TCACCTGCGACAGCTGCAGAACATCATTCAGGCCACATCCA < 41bp 1 0.608226257172177 1 0.97929459810257 experiment 0.783547485655645 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 37 DSP ENSG00000096696 CDS Human protein_coding chr6:7565635 chr6:7565651 synonymous SNV . 0 hm6A_associated_SNPs_54894 2 Likely benign Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000236070.1
2831 chr6 7565651 7565651 1 + G A PAAD 7565635 + 7565615 7565655 41 TCACCTGCGACAGCTGCAGAACATCATTCAGGCCACGTCCA TCACCTGCGACAGCTGCAGAACATCATTCAGGCCACATCCA < 41bp 1 0.608226257172177 1 0.97929459810257 experiment 0.783547485655645 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 37 DSP ENSG00000096696 CDS Human protein_coding chr6:7565635 chr6:7565651 synonymous SNV . 0 hm6A_associated_SNPs_54894 2 Likely benign Cardiomyopathy dilated with woolly hair and keratoderma RCV000236070.1
2832 chr21 47545822 47545822 1 + C T PAAD 47545836 + 47545816 47545856 41 GGATTGCGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT GGATTGTGGGCGGCACCTGGACACCCTCAGCCCTCAAGTTT < 41bp 1 0.714771937312299 1 0.999973773956299 experiment 0.570456125375402 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 7 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47545836 chr21:47545822 nonsynonymous SNV 0.641 4 hm6A_associated_SNPs_55141 1 Uncertain significance not specified RCV000489066.1
2833 chr3 197678115 197678115 1 + G A PRAD 197678133 + 197678113 197678153 41 GTGTTTACGCCCGAGATGAAACAGAATTCTATTTGGGCAAG GTATTTACGCCCGAGATGAAACAGAATTCTATTTGGGCAAG < 41bp 1 0.75659515891511 1 0.320907115936279 experiment 0.486809682169779 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 3 RPL35A ENSG00000182899 CDS Human protein_coding chr3:197678133 chr3:197678115 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_55452 1 Pathogenic Diamond-Blackfan anemia 5 RCV000013875.20
2834 chr10 89692871 89692871 1 + G T PRAD 89692863 + 89692843 89692883 41 CCAATGGCTAAGTGAAGATGACAATCATGTTGCAGCAATTC CCAATGGCTAAGTGAAGATGACAATCATTTTGCAGCAATTC < 41bp 1 0.798488544459375 1 0.817915081977844 experiment 0.40302291108125 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 29 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692863 chr10:89692871 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_55657 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000491669.1
2835 chr12 98995223 98995223 1 + G A PRAD 98995218 + 98995198 98995238 41 ACTACAGTGGTTTATCTATGACTCCGTGAAGGTCTACTTCA ACTACAGTGGTTTATCTATGACTCCATGAAGGTCTACTTCA < 41bp 1 0.761495498978556 1 0.912783622741699 experiment 0.477009002042888 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout|31548708;GSE125780;DART-seq;HEK293T;Control 26 SLC25A3 ENSG00000075415 CDS Human protein_coding chr12:98995218 chr12:98995223 nonsynonymous SNV 0.993 3 hm6A_associated_SNPs_55765 1 Uncertain significance not specified RCV000199928.1
2836 chr18 29122756 29122756 1 + G A PRAD 29122748 + 29122728 29122768 41 GGCCACAGGGGCTTCCAGAGACATGGCCGGAGCTCAGGCAG GGCCACAGGGGCTTCCAGAGACATGGCCAGAGCTCAGGCAG < 41bp 1 0.500844243638295 1 0.801264643669128 experiment 0.998311512723409 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 29 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29122748 chr18:29122756 nonsynonymous SNV 0.049 1 hm6A_associated_SNPs_55856 1 Uncertain significance not specified RCV000481316.1
2837 chr11 108115524 108115524 1 + G C READ 108115515 + 108115495 108115535 41 GCTTGTTTGTTTCTTCACAGACAAGAAAAGAGCTCTTCAGG GCTTGTTTGTTTCTTCACAGACAAGAAAACAGCTCTTCAGG < 41bp 1 0.308089930742431 1 0.678982734680176 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 30 ATM ENSG00000149311 CDS Human protein_coding chr11:108115515 chr11:108115524 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_56032 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000221484.1
2838 chr11 108115524 108115524 1 + G C READ 108115515 + 108115495 108115535 41 GCTTGTTTGTTTCTTCACAGACAAGAAAAGAGCTCTTCAGG GCTTGTTTGTTTCTTCACAGACAAGAAAACAGCTCTTCAGG < 41bp 1 0.308089930742431 1 0.678982734680176 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 30 ATM ENSG00000149311 CDS Human protein_coding chr11:108115515 chr11:108115524 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_56032 3 Uncertain significance Ataxia-telangiectasia syndrome RCV000474412.1
2839 chr11 108115524 108115524 1 + G C READ 108115515 + 108115495 108115535 41 GCTTGTTTGTTTCTTCACAGACAAGAAAAGAGCTCTTCAGG GCTTGTTTGTTTCTTCACAGACAAGAAAACAGCTCTTCAGG < 41bp 1 0.308089930742431 1 0.678982734680176 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 30 ATM ENSG00000149311 CDS Human protein_coding chr11:108115515 chr11:108115524 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_56032 3 Uncertain significance not specified RCV000485993.1
2840 chr9 137591756 137591756 1 + G A READ 137591773 + 137591753 137591793 41 AGCGTCTGCATTTCCCGAGGACTTCTCCATCCTAACAACTG AGCATCTGCATTTCCCGAGGACTTCTCCATCCTAACAACTG < 41bp 1 0.23954642051863 1 0.890653252601624 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137591773 chr9:137591756 synonymous SNV . 0 hm6A_associated_SNPs_56087 2 Benign not specified RCV000199886.2
2841 chr9 137591756 137591756 1 + G A READ 137591773 + 137591753 137591793 41 AGCGTCTGCATTTCCCGAGGACTTCTCCATCCTAACAACTG AGCATCTGCATTTCCCGAGGACTTCTCCATCCTAACAACTG < 41bp 1 0.23954642051863 1 0.890653252601624 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 COL5A1 ENSG00000130635 CDS Human protein_coding chr9:137591773 chr9:137591756 synonymous SNV . 0 hm6A_associated_SNPs_56087 2 Likely benign Ehlers-Danlos syndrome, classic type RCV000461390.1
2842 chr20 43057088 43057088 1 + G A READ 43057090 + 43057070 43057110 41 CCCACTCACCTCAGCAACGGACAGATGTGTGAGTGGCCCCG CCCACTCACCTCAGCAACAGACAGATGTGTGAGTGGCCCCG < 41bp 1 0.203866009157016 1 0.79320353269577 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 19 HNF4A ENSG00000101076 CDS Human protein_coding chr20:43057090 chr20:43057088 nonsynonymous SNV 0.999 2 hm6A_associated_SNPs_56173 1 Uncertain significance not specified RCV000501691.1
2843 chr5 176696731 176696731 1 + G A READ 176696718 + 176696698 176696738 41 GATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTC GATCTAATGACTATTTGTGGACTCACCAGGCCCAAGTCTTC < 41bp 1 0.353547241510933 1 0.776882708072662 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176696718 chr5:176696731 nonsynonymous SNV 0.987 4 hm6A_associated_SNPs_56263 1 Pathogenic Sotos syndrome 1 RCV000146876.1
2844 chr19 19627062 19627062 1 + G C SARC 19627073 + 19627053 19627093 41 GGCGTCAAAGGTGAAGCAGGACATGCCTCCGCCGGGGGGCT GGCGTCAAACGTGAAGCAGGACATGCCTCCGCCGGGGGGCT < 41bp 1 0.740984475906512 1 0.985398828983307 experiment 0.518031048186976 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 10 NDUFA13 ENSG00000186010;ENSG00000250067;ENSG00000258674 CDS Human other chr19:19627073 chr19:19627062 nonsynonymous SNV 0.968 4 hm6A_associated_SNPs_56567 1 Pathogenic Hurthle cell carcinoma of thyroid RCV000001761.3
2845 chr19 1223037 1223037 1 + G T SARC 1223043 + 1223023 1223063 41 GCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCA GCCCATCCCACCGATCCCAGACACCAAGGACCGGTGGCGCA < 41bp 1 0.749970365550446 1 0.999054789543152 experiment 0.500059268899109 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 15 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223043 chr19:1223037 nonsynonymous SNV 0.166 2 hm6A_associated_SNPs_56666 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000129772.2
2846 chr1 247587996 247587996 1 + C T SKCM 247588008 + 247587988 247588028 41 TGCTGGATCGTGTGCACTGGACTGAAACAGCAGATGGAGAG TGCTGGATTGTGTGCACTGGACTGAAACAGCAGATGGAGAG < 41bp 1 0.440158874707198 1 0.999928414821625 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 9 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588008 chr1:247587996 synonymous SNV . 0 hm6A_associated_SNPs_58211 3 Likely benign Chronic infantile neurological, cutaneous and articular syndrome RCV000288660.1
2847 chr1 247587996 247587996 1 + C T SKCM 247588008 + 247587988 247588028 41 TGCTGGATCGTGTGCACTGGACTGAAACAGCAGATGGAGAG TGCTGGATTGTGTGCACTGGACTGAAACAGCAGATGGAGAG < 41bp 1 0.440158874707198 1 0.999928414821625 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 9 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588008 chr1:247587996 synonymous SNV . 0 hm6A_associated_SNPs_58211 3 Likely benign Familial cold autoinflammatory syndrome RCV000324235.1
2848 chr1 247587996 247587996 1 + C T SKCM 247588008 + 247587988 247588028 41 TGCTGGATCGTGTGCACTGGACTGAAACAGCAGATGGAGAG TGCTGGATTGTGTGCACTGGACTGAAACAGCAGATGGAGAG < 41bp 1 0.440158874707198 1 0.999928414821625 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 9 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588008 chr1:247587996 synonymous SNV . 0 hm6A_associated_SNPs_58211 3 Likely benign Familial amyloid nephropathy with urticaria AND deafness RCV000381161.1
2849 chr13 32907093 32907093 1 + C T SKCM 32907086 + 32907066 32907106 41 TAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTTCTTCA TAAAGCAGGCAATATCTGGAACTTCTCTAGTGGCTTCTTCA < 41bp 1 0.586633796160773 1 0.967180967330933 experiment 0.826732407678454 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 28 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907086 chr13:32907093 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_58544 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000165981.2
2850 chr13 32907093 32907093 1 + C T SKCM 32907086 + 32907066 32907106 41 TAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTTCTTCA TAAAGCAGGCAATATCTGGAACTTCTCTAGTGGCTTCTTCA < 41bp 1 0.586633796160773 1 0.967180967330933 experiment 0.826732407678454 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 28 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907086 chr13:32907093 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_58544 3 Uncertain significance Breast-ovarian cancer, familial 2 RCV000239257.1
2851 chr13 32907093 32907093 1 + C T SKCM 32907086 + 32907066 32907106 41 TAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTTCTTCA TAAAGCAGGCAATATCTGGAACTTCTCTAGTGGCTTCTTCA < 41bp 1 0.586633796160773 1 0.967180967330933 experiment 0.826732407678454 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 28 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907086 chr13:32907093 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_58544 3 other not specified RCV000486205.1
2852 chr1 64095113 64095113 1 + C T SKCM 64095116 + 64095096 64095136 41 ATCGGTCGCTTGGTTATCGGACAGAATGGAATCCTCTCCAC ATCGGTCGCTTGGTTATTGGACAGAATGGAATCCTCTCCAC < 41bp 1 0.521041084045218 1 0.930414438247681 experiment 0.957917831909563 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 18 PGM1 ENSG00000079739 CDS Human protein_coding chr1:64095116 chr1:64095113 synonymous SNV . 0 hm6A_associated_SNPs_59132 1 Likely benign not specified RCV000441441.1
2853 chr9 131395598 131395598 1 + G A SKCM 131395609 + 131395589 131395629 41 CACCCGCTCGCTTTTCGTGAACTGAGCCACTCCCTGGGTCA CACCCGCTCACTTTTCGTGAACTGAGCCACTCCCTGGGTCA < 41bp 1 0.707624785645208 1 0.987665832042694 experiment 0.584750428709583 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 10 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131395609 chr9:131395598 synonymous SNV . 0 hm6A_associated_SNPs_59133 1 Benign not specified RCV000440901.1
2854 chr12 58145431 58145431 1 + G T SKCM 58145446 - 58145426 58145466 41 TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCAGTGAT < 41bp 1 0.763444893425582 1 0.871757864952087 experiment 0.473110213148837 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145446 chr12:58145431 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_59195 3 Likely pathogenic Malignant melanoma of skin RCV000419745.1
2855 chr12 58145431 58145431 1 + G T SKCM 58145446 - 58145426 58145466 41 TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCAGTGAT < 41bp 1 0.763444893425582 1 0.871757864952087 experiment 0.473110213148837 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145446 chr12:58145431 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_59195 3 Likely pathogenic Multiple myeloma RCV000429137.1
2856 chr12 58145431 58145431 1 + G T SKCM 58145446 - 58145426 58145466 41 TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCCGTGAT TTGGTGTCGGTGCCTATGGGACAGTGTACAAGGCCAGTGAT < 41bp 1 0.763444893425582 1 0.871757864952087 experiment 0.473110213148837 Functional Loss 31281898;GSE125240;m6A-REF-seq;HEK293;Control|26121403;GSE63753;miCLIP;HEK293;Control|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 36 CDK4 ENSG00000135446 CDS Human protein_coding chr12:58145446 chr12:58145431 nonsynonymous SNV 0.998 3 hm6A_associated_SNPs_59195 3 Likely pathogenic Adenocarcinoma of lung RCV000437447.1
2857 chr1 156106056 156106056 1 + C T SKCM 156106072 + 156106052 156106092 41 CTTCCTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTC CTTCTTCTCACTCATCCCAGACACAGGGTGGGGGCAGCGTC < 41bp 1 0.560482949529933 1 0.825930237770081 experiment 0.879034100940133 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 5 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106072 chr1:156106056 synonymous SNV . 0 hm6A_associated_SNPs_59845 1 Likely benign not specified RCV000424680.1
2858 chr11 108098533 108098533 1 + C T SKCM 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTTGAGATCCTGAAACAATTAAACATCTAGATCGG < 41bp 1 0.703340351135174 1 0.657941222190857 experiment 0.593319297729651 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098533 stopgain 0.996 1 hm6A_associated_SNPs_59979 3 Pathogenic Ataxia-telangiectasia syndrome RCV000003164.6
2859 chr11 108098533 108098533 1 + C T SKCM 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTTGAGATCCTGAAACAATTAAACATCTAGATCGG < 41bp 1 0.703340351135174 1 0.657941222190857 experiment 0.593319297729651 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098533 stopgain 0.996 1 hm6A_associated_SNPs_59979 3 other Hereditary cancer-predisposing syndrome RCV000130278.4
2860 chr11 108098533 108098533 1 + C T SKCM 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTTGAGATCCTGAAACAATTAAACATCTAGATCGG < 41bp 1 0.703340351135174 1 0.657941222190857 experiment 0.593319297729651 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098533 stopgain 0.996 1 hm6A_associated_SNPs_59979 3 Pathogenic not provided RCV000236608.2
2861 chr16 2122880 2122880 1 + C T SKCM 2122865 + 2122845 2122885 41 ATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGC ATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCTGAGGC < 41bp 1 0.583802742149411 1 0.747512876987457 experiment 0.832394515701179 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 36 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2122865 chr16:2122880 stopgain 0.987 0 hm6A_associated_SNPs_60258 2 not provided Tuberous sclerosis syndrome RCV000043398.2
2862 chr16 2122880 2122880 1 + C T SKCM 2122865 + 2122845 2122885 41 ATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCCGAGGC ATCAGCTTTCAGGCCCAAAGACACTGGAGCGGCTCTGAGGC < 41bp 1 0.583802742149411 1 0.747512876987457 experiment 0.832394515701179 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 36 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2122865 chr16:2122880 stopgain 0.987 0 hm6A_associated_SNPs_60258 2 Pathogenic Tuberous sclerosis 2 RCV000201032.1
2863 chr6 7565729 7565729 1 + C T SKCM 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACGACTGGAGCGACAAGAACACCAACATTGCTCAGAAAC < 41bp 1 0.40389512026791 1 0.984609842300415 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 31 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565729 synonymous SNV . 0 hm6A_associated_SNPs_60354 1 Likely benign not specified RCV000423563.1
2864 chr6 7572218 7572218 1 + G A SKCM 7572230 + 7572210 7572250 41 AGCACTGCGAGGGCAGGATGACTCTCAAAAACCTCCCTCTA AGCACTGCAAGGGCAGGATGACTCTCAAAAACCTCCCTCTA < 41bp 1 0.162424216142381 1 0.975001513957977 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 9 DSP ENSG00000096696 CDS Human protein_coding chr6:7572230 chr6:7572218 nonsynonymous SNV 0.319 4 hm6A_associated_SNPs_60417 1 Uncertain significance Cardiac arrest RCV000208261.1
2865 chr4 74285330 74285330 1 + G A SKCM 74285339 + 74285319 74285359 41 GCAAGGCTGACGATAAGGAGACCTGCTTTGCCGAGGAGGTA GCAAGGCTGACAATAAGGAGACCTGCTTTGCCGAGGAGGTA < 41bp 1 0.0357148617272635 1 0.384565532207489 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|26593424;GSE73405;miCLIP;HepG2;Control 12 ALB ENSG00000163631 CDS Human protein_coding chr4:74285339 chr4:74285330 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_60658 1 other ALBUMIN FUKUOKA 1 RCV000019858.1
2866 chr22 38168688 38168688 1 + C T SKCM 38168668 + 38168648 38168688 41 TGGAGCTGAGCCACATCAAGACACGGTCTGAGCGGGAGATC TGGAGCTGAGCCACATCAAGACACGGTCTGAGCGGGAGATT < 41bp 1 0.585821366299664 1 0.971829891204834 experiment 0.828357267400672 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 41 TRIOBP ENSG00000100106 CDS Human protein_coding chr22:38168668 chr22:38168688 synonymous SNV . 0 hm6A_associated_SNPs_60730 1 Likely benign not specified RCV000156068.1
2867 chr12 12870877 12870877 1 + C T SKCM 12870865 + 12870845 12870885 41 CAAGCCCTCGGCCTGCAGGAACCTCTTCGGCCCGGTGGACC CAAGCCCTCGGCCTGCAGGAACCTCTTCGGCCTGGTGGACC < 41bp 1 0.587272824873548 1 0.998082160949707 experiment 0.825454350252904 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870865 chr12:12870877 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_60807 1 Uncertain significance Multiple endocrine neoplasia, type 4 RCV000469778.1
2868 chr12 12870877 12870877 1 + C T SKCM 12870883 + 12870863 12870903 41 GAACCTCTTCGGCCCGGTGGACCACGAAGAGTTAACCCGGG GAACCTCTTCGGCCTGGTGGACCACGAAGAGTTAACCCGGG < 41bp 1 0.745985249716428 1 0.999121487140656 experiment 0.508029500567144 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 15 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870883 chr12:12870877 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_60808 1 Uncertain significance Multiple endocrine neoplasia, type 4 RCV000469778.1
2869 chr12 12870877 12870877 1 + C T SKCM 12870897 + 12870877 12870917 41 CGGTGGACCACGAAGAGTTAACCCGGGACTTGGAGAAGCAC TGGTGGACCACGAAGAGTTAACCCGGGACTTGGAGAAGCAC < 41bp 1 0.363354924814723 1 0.999519944190979 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 CDKN1B ENSG00000111276 CDS Human protein_coding chr12:12870897 chr12:12870877 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_60809 1 Uncertain significance Multiple endocrine neoplasia, type 4 RCV000469778.1
2870 chr2 220284867 220284867 1 + C T SKCM 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGTCTTCCGAG < 41bp 1 0.542626374451576 1 0.685988008975983 experiment 0.914747251096847 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 33 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284867 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_60836 2 Uncertain significance Muscular dystrophy, limb-girdle, type 2r RCV000475550.1
2871 chr2 220284867 220284867 1 + C T SKCM 220284855 + 220284835 220284875 41 GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGCCTTCCGAG GTTGAAGGAAGAAGCAGAGAACAATTTGGCTGTCTTCCGAG < 41bp 1 0.542626374451576 1 0.685988008975983 experiment 0.914747251096847 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 33 DES ENSG00000175084 CDS Human protein_coding chr2:220284855 chr2:220284867 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_60836 2 Uncertain significance Myofibrillar myopathy 1 RCV000475550.1
2872 chr5 138643564 138643564 1 + C T SKCM 138643552 + 138643532 138643572 41 TACAGCTTAAAAGGAGGAGAACTGAAGAAGGCCCTACCTTG TACAGCTTAAAAGGAGGAGAACTGAAGAAGGCTCTACCTTG < 41bp 1 0.586093215519972 1 0.919125437736511 experiment 0.827813568960055 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 33 MATR3 ENSG00000015479 CDS Human protein_coding chr5:138643552 chr5:138643564 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_60909 1 Pathogenic Myopathy, distal, 2 RCV000114432.3
2873 chr18 29104828 29104828 1 + G A SKCM 29104822 + 29104802 29104842 41 ACATAGAAACAGATGCTCAAACTAACGAAGGAATTGTGACC ACATAGAAACAGATGCTCAAACTAACAAAGGAATTGTGACC < 41bp 1 0.222916124768972 1 0.113561153411865 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 27 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29104822 chr18:29104828 nonsynonymous SNV 0.989 4 hm6A_associated_SNPs_60981 2 Pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000018309.28
2874 chr18 29104828 29104828 1 + G A SKCM 29104822 + 29104802 29104842 41 ACATAGAAACAGATGCTCAAACTAACGAAGGAATTGTGACC ACATAGAAACAGATGCTCAAACTAACAAAGGAATTGTGACC < 41bp 1 0.222916124768972 1 0.113561153411865 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 27 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29104822 chr18:29104828 nonsynonymous SNV 0.989 4 hm6A_associated_SNPs_60981 2 Uncertain significance Arrhythmogenic right ventricular cardiomyopathy RCV000029673.1
2875 chr18 29104828 29104828 1 + G A SKCM 29104840 + 29104820 29104860 41 AAACTAACGAAGGAATTGTGACCCTTATTAAGGTAAGTACT AAACTAACAAAGGAATTGTGACCCTTATTAAGGTAAGTACT < 41bp 1 0.0463530724464904 1 0.070397675037384 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 9 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29104840 chr18:29104828 nonsynonymous SNV 0.989 4 hm6A_associated_SNPs_60982 2 Pathogenic Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000018309.28
2876 chr18 29104828 29104828 1 + G A SKCM 29104840 + 29104820 29104860 41 AAACTAACGAAGGAATTGTGACCCTTATTAAGGTAAGTACT AAACTAACAAAGGAATTGTGACCCTTATTAAGGTAAGTACT < 41bp 1 0.0463530724464904 1 0.070397675037384 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 9 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29104840 chr18:29104828 nonsynonymous SNV 0.989 4 hm6A_associated_SNPs_60982 2 Uncertain significance Arrhythmogenic right ventricular cardiomyopathy RCV000029673.1
2877 chr12 1005522 1005522 1 + C T SKCM 1005540 + 1005520 1005560 41 GTCGTTTCTCTGTATCAAAAACTGAGGACAAGATCACTGAC GTTGTTTCTCTGTATCAAAAACTGAGGACAAGATCACTGAC < 41bp 1 0.715573088961244 1 0.993560671806335 experiment 0.568853822077512 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 3 WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005540 chr12:1005522 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_61423 2 Uncertain significance Pseudohypoaldosteronism, type 2 RCV000367530.1
2878 chr12 1005522 1005522 1 + C T SKCM 1005540 + 1005520 1005560 41 GTCGTTTCTCTGTATCAAAAACTGAGGACAAGATCACTGAC GTTGTTTCTCTGTATCAAAAACTGAGGACAAGATCACTGAC < 41bp 1 0.715573088961244 1 0.993560671806335 experiment 0.568853822077512 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 3 WNK1 ENSG00000060237 CDS Human protein_coding chr12:1005540 chr12:1005522 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_61423 2 Uncertain significance Hereditary sensory and autonomic neuropathy type II RCV000396505.1
2879 chr2 189876393 189876393 1 + C T SKCM 189876378 + 189876358 189876398 41 ACACTGGGGAATGGAGCAAAACAGTCTTTGAATATCGAACA ACACTGGGGAATGGAGCAAAACAGTCTTTGAATATTGAACA < 41bp 1 0.631639792271452 1 0.794449925422668 experiment 0.736720415457097 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 36 COL3A1 ENSG00000168542 CDS Human protein_coding chr2:189876378 chr2:189876393 stopgain 0.995 0 hm6A_associated_SNPs_61772 1 Pathogenic Ehlers-Danlos syndrome, type 4 RCV000087536.1
2880 chr13 32913053 32913053 1 + C T SKCM 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA CGTGATGAAAAGATCAAAGAACCTACTTTATTGGGTTTTCA < 41bp 1 0.517009821450241 1 0.980950653553009 experiment 0.965980357099518 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 28 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913053 synonymous SNV . 0 hm6A_associated_SNPs_61839 2 Likely benign Hereditary cancer-predisposing syndrome RCV000164405.2
2881 chr13 32913053 32913053 1 + C T SKCM 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA CGTGATGAAAAGATCAAAGAACCTACTTTATTGGGTTTTCA < 41bp 1 0.517009821450241 1 0.980950653553009 experiment 0.965980357099518 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 28 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913053 synonymous SNV . 0 hm6A_associated_SNPs_61839 2 Likely benign Breast-ovarian cancer, familial 2 RCV000495817.2
2882 chr20 43057087 43057087 1 + C T SKCM 43057090 + 43057070 43057110 41 CCCACTCACCTCAGCAACGGACAGATGTGTGAGTGGCCCCG CCCACTCACCTCAGCAATGGACAGATGTGTGAGTGGCCCCG < 41bp 1 0.22652746374391 1 0.920488953590393 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 18 HNF4A ENSG00000101076 CDS Human protein_coding chr20:43057090 chr20:43057087 synonymous SNV . 0 hm6A_associated_SNPs_61899 2 Uncertain significance Hyperinsulinism, Dominant RCV000270831.1
2883 chr20 43057087 43057087 1 + C T SKCM 43057090 + 43057070 43057110 41 CCCACTCACCTCAGCAACGGACAGATGTGTGAGTGGCCCCG CCCACTCACCTCAGCAATGGACAGATGTGTGAGTGGCCCCG < 41bp 1 0.22652746374391 1 0.920488953590393 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 18 HNF4A ENSG00000101076 CDS Human protein_coding chr20:43057090 chr20:43057087 synonymous SNV . 0 hm6A_associated_SNPs_61899 2 Uncertain significance Maturity-onset diabetes of the young RCV000309520.1
2884 chr1 12034862 12034862 1 + C T SKCM 12034879 + 12034859 12034899 41 TCCCTAATTGGCCAGGCCTGACCCTCTTGGACCTTTCTTCT TCCTTAATTGGCCAGGCCTGACCCTCTTGGACCTTTCTTCT < 41bp 1 0.640807811461397 1 0.901359617710114 experiment 0.718384377077205 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 4 PLOD1 ENSG00000083444 CDS Human protein_coding chr1:12034879 chr1:12034862 synonymous SNV . 0 hm6A_associated_SNPs_62219 1 Likely benign Thoracic aortic aneurysm and aortic dissection RCV000248181.1
2885 chr9 133364728 133364728 1 + G A SKCM 133364731 + 133364711 133364751 41 AATGGCTAGGTATCTACGAGACCCCAGCAGGCACCATCCTT AATGGCTAGGTATCTACAAGACCCCAGCAGGCACCATCCTT < 41bp 1 0.0849775466048943 1 0.548641622066498 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 18 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133364731 chr9:133364728 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_62236 1 Likely pathogenic not provided RCV000493705.1
2886 chr12 121176354 121176354 1 + C T SKCM 121176346 + 121176326 121176366 41 GTCCCCACAGCAAACCCTGGACATGGGCCGCATCGGCATCG GTCCCCACAGCAAACCCTGGACATGGGCTGCATCGGCATCG < 41bp 1 0.291450976636348 1 0.969701051712036 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 29 ACADS ENSG00000122971 CDS Human protein_coding chr12:121176346 chr12:121176354 nonsynonymous SNV 0.998 5 hm6A_associated_SNPs_62396 1 Likely pathogenic not provided RCV000443456.1
2887 chr2 179403903 179403903 1 + C T SKCM 179403884 + 179403864 179403904 41 TAGTAGCCTGTGACTCTAGAACCACCATCATCTTTGGGCCG TAGTAGCCTGTGACTCTAGAACCACCATCATCTTTGGGCTG < 41bp 1 0.492562243304663 1 0.907003343105316 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 40 TTN ENSG00000155657 CDS Human protein_coding chr2:179403884 chr2:179403903 nonsynonymous SNV 0.996 3 hm6A_associated_SNPs_62444 3 Uncertain significance not provided RCV000172177.2
2888 chr2 179403903 179403903 1 + C T SKCM 179403884 + 179403864 179403904 41 TAGTAGCCTGTGACTCTAGAACCACCATCATCTTTGGGCCG TAGTAGCCTGTGACTCTAGAACCACCATCATCTTTGGGCTG < 41bp 1 0.492562243304663 1 0.907003343105316 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 40 TTN ENSG00000155657 CDS Human protein_coding chr2:179403884 chr2:179403903 nonsynonymous SNV 0.996 3 hm6A_associated_SNPs_62444 3 Uncertain significance not specified RCV000412704.1
2889 chr2 179403903 179403903 1 + C T SKCM 179403884 + 179403864 179403904 41 TAGTAGCCTGTGACTCTAGAACCACCATCATCTTTGGGCCG TAGTAGCCTGTGACTCTAGAACCACCATCATCTTTGGGCTG < 41bp 1 0.492562243304663 1 0.907003343105316 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 40 TTN ENSG00000155657 CDS Human protein_coding chr2:179403884 chr2:179403903 nonsynonymous SNV 0.996 3 hm6A_associated_SNPs_62444 3 Uncertain significance Dilated cardiomyopathy 1S RCV000491239.1
2890 chr14 102470912 102470912 1 + C T SKCM 102470927 + 102470907 102470947 41 AATGTCGCTAAATTACAGAAACACTTCAAGAAGATGTTTGC AATGTTGCTAAATTACAGAAACACTTCAAGAAGATGTTTGC < 41bp 1 0.688434273709439 1 0.828838646411896 experiment 0.623131452581122 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 6 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102470927 chr14:102470912 synonymous SNV . 0 hm6A_associated_SNPs_62582 1 Likely benign not specified RCV000432059.1
2891 chr3 4859857 4859857 1 + C T SKCM 4859877 + 4859857 4859897 41 CGTCCTGGTGAAAGTAAAGGACTCCACCGAATATACTGGGC TGTCCTGGTGAAAGTAAAGGACTCCACCGAATATACTGGGC < 41bp 1 0.164610616834286 1 0.962224721908569 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 1 ITPR1 ENSG00000150995 CDS Human protein_coding chr3:4859877 chr3:4859857 synonymous SNV . 0 hm6A_associated_SNPs_62780 1 Uncertain significance not specified RCV000179176.1
2892 chr4 169632959 169632959 1 + C T SKCM 169632973 + 169632953 169632993 41 CCCAGCCGTGGAGTAAATGGACTGATTAACGGCAAAGCTAA CCCAGCTGTGGAGTAAATGGACTGATTAACGGCAAAGCTAA < 41bp 1 0.392571827219577 1 0.996432900428772 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 PALLD ENSG00000129116 CDS Human protein_coding chr4:169632973 chr4:169632959 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_62877 2 Likely benign not specified RCV000116043.2
2893 chr4 169632959 169632959 1 + C T SKCM 169632973 + 169632953 169632993 41 CCCAGCCGTGGAGTAAATGGACTGATTAACGGCAAAGCTAA CCCAGCTGTGGAGTAAATGGACTGATTAACGGCAAAGCTAA < 41bp 1 0.392571827219577 1 0.996432900428772 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 7 PALLD ENSG00000129116 CDS Human protein_coding chr4:169632973 chr4:169632959 nonsynonymous SNV 0.004 0 hm6A_associated_SNPs_62877 2 Likely benign Carcinoma of pancreas RCV000285841.1
2894 chr21 47423320 47423320 1 + C T SKCM 47423326 + 47423306 47423346 41 CACGTTCTCCTCCCCGGCTGACATCACCATCCTGCTGGACG CACGTTCTCCTCCCTGGCTGACATCACCATCCTGCTGGACG < 41bp 1 0.488943591180356 1 0.983354806900024 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 15 COL6A1 ENSG00000142156 CDS Human protein_coding chr21:47423326 chr21:47423320 nonsynonymous SNV 0.860 2 hm6A_associated_SNPs_63338 1 Likely benign not specified RCV000242029.1
2895 chr3 10191547 10191547 1 + C T SKCM 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACTGGACATTGTCAGGTCGCT < 41bp 1 0.774218266050322 1 0.960630357265472 experiment 0.451563467899356 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 30 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191547 synonymous SNV . 0 hm6A_associated_SNPs_63906 3 Likely benign not specified RCV000430526.1
2896 chr3 10191547 10191547 1 + C T SKCM 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACTGGACATTGTCAGGTCGCT < 41bp 1 0.774218266050322 1 0.960630357265472 experiment 0.451563467899356 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 30 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191547 synonymous SNV . 0 hm6A_associated_SNPs_63906 3 Likely benign Erythrocytosis, familial, 2 RCV000457742.1
2897 chr3 10191547 10191547 1 + C T SKCM 10191538 + 10191518 10191558 41 AAGCCTGAGAATTACAGGAGACTGGACATCGTCAGGTCGCT AAGCCTGAGAATTACAGGAGACTGGACATTGTCAGGTCGCT < 41bp 1 0.774218266050322 1 0.960630357265472 experiment 0.451563467899356 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 30 VHL ENSG00000134086 CDS Human protein_coding chr3:10191538 chr3:10191547 synonymous SNV . 0 hm6A_associated_SNPs_63906 3 Likely benign Von Hippel-Lindau syndrome RCV000457742.1
2898 chr13 32907470 32907470 1 + C T SKCM 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCTA < 41bp 1 0.701104847980027 1 0.964962124824524 experiment 0.597790304039947 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907470 stopgain 0.031 0 hm6A_associated_SNPs_63991 4 Pathogenic Hereditary breast and ovarian cancer syndrome RCV000043911.5
2899 chr13 32907470 32907470 1 + C T SKCM 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCTA < 41bp 1 0.701104847980027 1 0.964962124824524 experiment 0.597790304039947 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907470 stopgain 0.031 0 hm6A_associated_SNPs_63991 4 Pathogenic Breast-ovarian cancer, familial 2 RCV000112988.3
2900 chr13 32907470 32907470 1 + C T SKCM 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCTA < 41bp 1 0.701104847980027 1 0.964962124824524 experiment 0.597790304039947 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907470 stopgain 0.031 0 hm6A_associated_SNPs_63991 4 Pathogenic Hereditary cancer-predisposing syndrome RCV000216070.1
2901 chr13 32907470 32907470 1 + C T SKCM 32907451 + 32907431 32907471 41 CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCCA CCGAAAGACCAAAAATCAGAACTAATTAACTGTTCAGCCTA < 41bp 1 0.701104847980027 1 0.964962124824524 experiment 0.597790304039947 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907451 chr13:32907470 stopgain 0.031 0 hm6A_associated_SNPs_63991 4 Pathogenic not provided RCV000254954.1
2902 chr1 247587682 247587682 1 + G A SKCM 247587693 + 247587673 247587713 41 GCCTTTGACGAGCACATAGGACCGCTCTGCACTGACTGGCA GCCTTTGACAAGCACATAGGACCGCTCTGCACTGACTGGCA < 41bp 1 0.205344621129229 1 0.999017477035522 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 10 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247587693 chr1:247587682 nonsynonymous SNV 0.276 3 hm6A_associated_SNPs_64029 1 not provided Familial cold urticaria RCV000084250.1
2903 chr12 968444 968444 1 + C T SKCM 968457 + 968437 968477 41 ATGCCTTCTTCCAAGAGGAAACAGGAGTACGGGTAGAATTA ATGCCTTTTTCCAAGAGGAAACAGGAGTACGGGTAGAATTA < 41bp 1 0.526471279716009 1 0.897273421287537 experiment 0.947057440567981 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 8 WNK1 ENSG00000060237 CDS Human protein_coding chr12:968457 chr12:968444 synonymous SNV . 0 hm6A_associated_SNPs_64149 2 Uncertain significance Hereditary sensory and autonomic neuropathy type II RCV000347011.1
2904 chr12 968444 968444 1 + C T SKCM 968457 + 968437 968477 41 ATGCCTTCTTCCAAGAGGAAACAGGAGTACGGGTAGAATTA ATGCCTTTTTCCAAGAGGAAACAGGAGTACGGGTAGAATTA < 41bp 1 0.526471279716009 1 0.897273421287537 experiment 0.947057440567981 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 8 WNK1 ENSG00000060237 CDS Human protein_coding chr12:968457 chr12:968444 synonymous SNV . 0 hm6A_associated_SNPs_64149 2 Uncertain significance Pseudohypoaldosteronism, type 2 RCV000394717.1
2905 chr3 15677086 15677086 1 + C G SKCM 15677101 + 15677081 15677121 41 TCCATCCATCCTGAGTCTGAACCCTCTGGCTCTCATCAGCC TCCATGCATCCTGAGTCTGAACCCTCTGGCTCTCATCAGCC < 41bp 1 0.308727394639187 1 0.419925212860107 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 BTD ENSG00000169814 CDS Human protein_coding chr3:15677101 chr3:15677086 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_64223 1 Uncertain significance Biotinidase deficiency RCV000311192.1
2906 chr12 992975 992975 1 + G A STAD 992960 + 992940 992980 41 AAATTGGAAGGAGAGTTCAAACAACCAATTCCTGCGTCTTC AAATTGGAAGGAGAGTTCAAACAACCAATTCCTGCATCTTC < 41bp 1 0.341154332060787 1 0.123774290084839 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 36 WNK1 ENSG00000060237 CDS Human protein_coding chr12:992960 chr12:992975 synonymous SNV . 0 hm6A_associated_SNPs_64227 2 Likely benign Hereditary sensory and autonomic neuropathy type II RCV000266166.1
2907 chr12 992975 992975 1 + G A STAD 992960 + 992940 992980 41 AAATTGGAAGGAGAGTTCAAACAACCAATTCCTGCGTCTTC AAATTGGAAGGAGAGTTCAAACAACCAATTCCTGCATCTTC < 41bp 1 0.341154332060787 1 0.123774290084839 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 36 WNK1 ENSG00000060237 CDS Human protein_coding chr12:992960 chr12:992975 synonymous SNV . 0 hm6A_associated_SNPs_64227 2 Likely benign Pseudohypoaldosteronism, type 2 RCV000379048.1
2908 chr16 47630429 47630429 1 + C T STAD 47630411 + 47630391 47630431 41 GGAAAACTGTTTCTTTGGGGACAAGCACTTTATATCATCGC GGAAAACTGTTTCTTTGGGGACAAGCACTTTATATCATTGC < 41bp 1 0.560417552288771 1 0.691239714622498 experiment 0.879164895422459 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 39 PHKB ENSG00000102893 CDS Human protein_coding chr16:47630411 chr16:47630429 synonymous SNV . 0 hm6A_associated_SNPs_64321 1 Uncertain significance Glycogen phosphorylase kinase deficiency RCV000278459.1
2909 chr10 112745488 112745488 1 + A G STAD 112745482 + 112745462 112745502 41 TACACAGATAACCAACCTTGACTTGCAGCACAATGAACTGC TACACAGATAACCAACCTTGACTTGCGGCACAATGAACTGC < 41bp 1 0.343089764082069 1 0.984514892101288 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 27 SHOC2 ENSG00000108061 CDS Human protein_coding chr10:112745482 chr10:112745488 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_64329 1 Uncertain significance not specified RCV000203043.1
2910 chr2 48028049 48028049 1 + G A STAD 48028046 + 48028026 48028066 41 CTATTGGGGGATTGGTAGGAACCGTTACCAGCTGGAAATTC CTATTGGGGGATTGGTAGGAACCATTACCAGCTGGAAATTC < 41bp 1 0.778252109619155 1 0.988722443580627 experiment 0.443495780761691 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 24 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48028046 chr2:48028049 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_64349 3 Uncertain significance Lynch syndrome RCV000074787.2
2911 chr2 48028049 48028049 1 + G A STAD 48028046 + 48028026 48028066 41 CTATTGGGGGATTGGTAGGAACCGTTACCAGCTGGAAATTC CTATTGGGGGATTGGTAGGAACCATTACCAGCTGGAAATTC < 41bp 1 0.778252109619155 1 0.988722443580627 experiment 0.443495780761691 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 24 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48028046 chr2:48028049 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_64349 3 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000218618.2
2912 chr2 48028049 48028049 1 + G A STAD 48028046 + 48028026 48028066 41 CTATTGGGGGATTGGTAGGAACCGTTACCAGCTGGAAATTC CTATTGGGGGATTGGTAGGAACCATTACCAGCTGGAAATTC < 41bp 1 0.778252109619155 1 0.988722443580627 experiment 0.443495780761691 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 24 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48028046 chr2:48028049 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_64349 3 Uncertain significance not specified RCV000455514.1
2913 chr9 124064372 124064372 1 + C T STAD 124064359 + 124064339 124064379 41 GCCCACCAACCTTTATGGAGACTTCTTCACGGGCGACGCCT GCCCACCAACCTTTATGGAGACTTCTTCACGGGTGACGCCT < 41bp 1 0.310621175975665 1 0.938392996788025 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 34 GSN ENSG00000148180 CDS Human protein_coding chr9:124064359 chr9:124064372 synonymous SNV . 0 hm6A_associated_SNPs_64454 1 Uncertain significance Amyloidosis RCV000275412.1
2914 chr14 45667954 45667954 1 + G A STAD 45667971 + 45667951 45667991 41 ACCGCAGATTTGCTAAAGGAACTGTCTTTAGTGGAACAAAG ACCACAGATTTGCTAAAGGAACTGTCTTTAGTGGAACAAAG < 41bp 1 0.27008545649205 1 0.880015730857849 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 4 FANCM ENSG00000187790 CDS Human protein_coding chr14:45667971 chr14:45667954 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_64539 1 Uncertain significance Fanconi anemia RCV000379846.1
2915 chr17 78013901 78013901 1 + A G STAD 78013883 + 78013863 78013903 41 TATTTCAGTCCTCCTCAGGAACTGCCTGGAGAGGAGGCATA TATTTCAGTCCTCCTCAGGAACTGCCTGGAGAGGAGGCGTA < 41bp 1 0.727124416465501 1 0.980987191200256 experiment 0.545751167068999 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 39 CCDC40 ENSG00000141519 CDS Human protein_coding chr17:78013883 chr17:78013901 synonymous SNV . 0 hm6A_associated_SNPs_64620 1 Likely benign not specified RCV000246104.1
2916 chr3 47036838 47036838 1 + G A STAD 47036856 + 47036836 47036876 41 GCGCCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTG GCACCCCCGGCCAGGATTGGACTCGGAACCAGGCGGAGCTG < 41bp 1 0.391736920173163 1 0.985623717308044 experiment 1 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 3 NBEAL2 ENSG00000160796 CDS Human protein_coding chr3:47036856 chr3:47036838 nonsynonymous SNV 0.679 3 hm6A_associated_SNPs_64679 1 Uncertain significance Gray platelet syndrome RCV000282727.1
2917 chr13 32907096 32907096 1 + T C STAD 32907086 + 32907066 32907106 41 TAAAGCAGGCAATATCTGGAACTTCTCCAGTGGCTTCTTCA TAAAGCAGGCAATATCTGGAACTTCTCCAGCGGCTTCTTCA < 41bp 1 0.589958225268674 1 0.985910713672638 experiment 0.820083549462651 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 31 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32907086 chr13:32907096 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_64796 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000164909.1
2918 chr11 75282887 75282887 1 + G A STAD 75282905 + 75282885 75282925 41 ACGCATGTCAGGCAAGAAGGACCTGTACCTGGCCAGCGTGT ACACATGTCAGGCAAGAAGGACCTGTACCTGGCCAGCGTGT < 41bp 1 0.788941553771634 1 0.939900994300842 experiment 0.422116892456731 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 3 SERPINH1 ENSG00000149257 CDS Human protein_coding chr11:75282905 chr11:75282887 nonsynonymous SNV 0.884 2 hm6A_associated_SNPs_64821 1 Uncertain significance Osteogenesis Imperfecta, Recessive RCV000346063.1
2919 chr2 11052800 11052800 1 + C T STAD 11052791 + 11052771 11052811 41 CAAGCGCGAGTTCTACTTTGACAGGGACCCGGACGCCTTCA CAAGCGCGAGTTCTACTTTGACAGGGACCTGGACGCCTTCA < 41bp 1 0.474769623346571 1 0.999601900577545 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 30 KCNF1 ENSG00000162975 CDS Human protein_coding chr2:11052791 chr2:11052800 nonsynonymous SNV 0.998 5 hm6A_associated_SNPs_65179 1 Uncertain significance Malignant tumor of prostate RCV000149127.1
2920 chr4 55594074 55594074 1 + C T STAD 55594069 + 55594049 55594089 41 TTAAGTCAGATGCGGCCATGACTGTCGCTGTAAAGATGCTC TTAAGTCAGATGCGGCCATGACTGTTGCTGTAAAGATGCTC < 41bp 1 0.143576877184515 1 0.946022272109985 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 26 KIT ENSG00000157404 CDS Human protein_coding chr4:55594069 chr4:55594074 synonymous SNV . 0 hm6A_associated_SNPs_65306 1 Likely benign Gastrointestinal stromal tumor RCV000228582.2
2921 chr11 108201077 108201077 1 + A G STAD 108201070 + 108201050 108201090 41 TGCTTATTAAGTGGAGAAGAACATGATATGTGGGTATTCCG TGCTTATTAAGTGGAGAAGAACATGATGTGTGGGTATTCCG < 41bp 1 0.76094534838646 1 0.444941222667694 experiment 0.47810930322708 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 28 ATM ENSG00000149311 CDS Human protein_coding chr11:108201070 chr11:108201077 nonsynonymous SNV 0.984 1 hm6A_associated_SNPs_65344 1 Uncertain significance Ataxia-telangiectasia syndrome RCV000477084.1
2922 chr17 70120416 70120416 1 + A G STAD 70120407 + 70120387 70120427 41 CTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGT CTCCACCTTCACCTACATGAACCCCGCTCGGCGCCCCATGT < 41bp 1 0.772050265850842 1 0.999125897884369 experiment 0.455899468298316 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 30 SOX9 ENSG00000125398 CDS Human protein_coding chr17:70120407 chr17:70120416 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_65469 1 Likely pathogenic not provided RCV000485037.1
2923 chr17 61574527 61574527 1 + G A STAD 61574522 + 61574502 61574542 41 CTCAGAAGGGCCCCTCCCAGACAGCGGCCGCGTCAGCTTCC CTCAGAAGGGCCCCTCCCAGACAGCAGCCGCGTCAGCTTCC < 41bp 1 0.711381058062015 1 0.983379423618317 experiment 0.57723788387597 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 26 ACE ENSG00000159640 CDS Human protein_coding chr17:61574522 chr17:61574527 nonsynonymous SNV 0.148 0 hm6A_associated_SNPs_65732 1 Uncertain significance Renal dysplasia RCV000262155.1
2924 chr1 10399860 10399860 1 + G A STAD 10399874 + 10399854 10399894 41 CTCCACGGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCC CTCCACAGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCC < 41bp 1 0.650543009736892 1 0.894844174385071 experiment 0.698913980526217 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 KIF1B ENSG00000054523 CDS Human protein_coding chr1:10399874 chr1:10399860 synonymous SNV . 0 hm6A_associated_SNPs_65837 3 Uncertain significance Charcot-Marie-Tooth, Type 2 RCV000308830.1
2925 chr1 10399860 10399860 1 + G A STAD 10399874 + 10399854 10399894 41 CTCCACGGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCC CTCCACAGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCC < 41bp 1 0.650543009736892 1 0.894844174385071 experiment 0.698913980526217 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 KIF1B ENSG00000054523 CDS Human protein_coding chr1:10399874 chr1:10399860 synonymous SNV . 0 hm6A_associated_SNPs_65837 3 Uncertain significance Neuroblastoma RCV000365817.1
2926 chr1 10399860 10399860 1 + G A STAD 10399874 + 10399854 10399894 41 CTCCACGGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCC CTCCACAGAGCCCCTCAAAAACAATGGCAGAGGAAGTCCCC < 41bp 1 0.650543009736892 1 0.894844174385071 experiment 0.698913980526217 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 KIF1B ENSG00000054523 CDS Human protein_coding chr1:10399874 chr1:10399860 synonymous SNV . 0 hm6A_associated_SNPs_65837 3 Uncertain significance Pheochromocytoma RCV000405186.1
2927 chr1 227073248 227073248 1 + G A STAD 227073262 + 227073242 227073282 41 CTACACGCCATTCACTGAGGACACACCCTCGGTGGGCCAGC CTACACACCATTCACTGAGGACACACCCTCGGTGGGCCAGC < 41bp 1 0.665184157895861 1 0.731241762638092 experiment 0.669631684208277 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 PSEN2 ENSG00000143801 CDS Human protein_coding chr1:227073262 chr1:227073248 synonymous SNV . 0 hm6A_associated_SNPs_65847 1 Likely benign not specified RCV000252672.1
2928 chr2 47639634 47639634 1 + C T STAD 47639614 + 47639594 47639634 41 AGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACC AGCTGACTTTTCCACAAAAGACATTTATCAGGACCTCAACT < 41bp 1 0.736746979924894 1 0.797189950942993 experiment 0.526506040150213 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 41 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47639614 chr2:47639634 nonsynonymous SNV 0.998 5 hm6A_associated_SNPs_66003 1 Uncertain significance Lynch syndrome RCV000466771.1
2929 chrX 48759706 48759706 1 + C T STAD 48759702 + 48759682 48759722 41 AGACAGGGAACGGGATCGGGACCGCGGGTATGACAAGGCAG AGACAGGGAACGGGATCGGGACCGTGGGTATGACAAGGCAG < 41bp 1 0.329297081014194 1 0.99050509929657 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759702 chrX:48759706 synonymous SNV . 0 hm6A_associated_SNPs_66260 1 Uncertain significance not specified RCV000502523.1
2930 chrX 48759706 48759706 1 + C T STAD 48759714 + 48759694 48759734 41 GGATCGGGACCGCGGGTATGACAAGGCAGACCGGGAAGAGG GGATCGGGACCGTGGGTATGACAAGGCAGACCGGGAAGAGG < 41bp 1 0.592561823097531 1 0.964009702205658 experiment 0.814876353804938 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759714 chrX:48759706 synonymous SNV . 0 hm6A_associated_SNPs_66261 1 Uncertain significance not specified RCV000502523.1
2931 chrX 48759706 48759706 1 + C T STAD 48759723 + 48759703 48759743 41 CCGCGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAAC CCGTGGGTATGACAAGGCAGACCGGGAAGAGGGCAAAGAAC < 41bp 1 0.195396627085708 1 0.926406502723694 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 4 PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759723 chrX:48759706 synonymous SNV . 0 hm6A_associated_SNPs_66262 1 Uncertain significance not specified RCV000502523.1
2932 chr5 131911487 131911487 1 + G A STAD 131911481 + 131911461 131911501 41 CTTCAAAGGTTGCTCAAGAAACAGATGTGAGAGCCCAGATT CTTCAAAGGTTGCTCAAGAAACAGATATGAGAGCCCAGATT < 41bp 1 0.420480647855765 1 0.100183308124542 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 27 RAD50 ENSG00000113522 CDS Human protein_coding chr5:131911481 chr5:131911487 nonsynonymous SNV 0.991 4 hm6A_associated_SNPs_66318 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000216115.1
2933 chr19 1223113 1223113 1 + C T STAD 1223118 + 1223098 1223138 41 CGGCGCGGACGAGGACGAGGACCTCTTCGACATCGAGGATG CGGCGCGGACGAGGATGAGGACCTCTTCGACATCGAGGATG < 41bp 1 0.385597765678826 1 0.998490929603577 experiment 1 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control 16 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223118 chr19:1223113 synonymous SNV . 0 hm6A_associated_SNPs_66393 1 Likely benign Hereditary cancer-predisposing syndrome RCV000163620.1
2934 chr17 56772408 56772408 1 + C T STAD 56772413 + 56772393 56772433 41 AAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATAC AAGAAGTGTACAGCATTGGAACTTCTTGAGCAGGAGCATAC < 41bp 1 0.65691506623022 1 0.763070344924927 experiment 0.68616986753956 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 RAD51C ENSG00000108384 CDS Human protein_coding chr17:56772413 chr17:56772408 synonymous SNV . 0 hm6A_associated_SNPs_66491 2 Likely benign Hereditary cancer-predisposing syndrome RCV000163517.2
2935 chr17 56772408 56772408 1 + C T STAD 56772413 + 56772393 56772433 41 AAGAAGTGTACAGCACTGGAACTTCTTGAGCAGGAGCATAC AAGAAGTGTACAGCATTGGAACTTCTTGAGCAGGAGCATAC < 41bp 1 0.65691506623022 1 0.763070344924927 experiment 0.68616986753956 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 16 RAD51C ENSG00000108384 CDS Human protein_coding chr17:56772413 chr17:56772408 synonymous SNV . 0 hm6A_associated_SNPs_66491 2 Likely benign Fanconi anemia, complementation group O RCV000462512.1
2936 chr11 117222588 117222588 1 + C T STAD 117222581 + 117222561 117222601 41 TGGGACCATCCATGTGACGAACACTATCGGAGCTTGGTGAT TGGGACCATCCATGTGACGAACACTATTGGAGCTTGGTGAT < 41bp 1 0.670815476846186 1 0.909584224224091 experiment 0.658369046307627 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 28 CEP164 ENSG00000110274 CDS Human protein_coding chr11:117222581 chr11:117222588 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_66495 1 Pathogenic Nephronophthisis 15 RCV000030835.3
2937 chr17 75398265 75398265 1 + C T STAD 75398258 + 75398238 75398278 41 CTCCACCCAGAAATTCCAGGACCTGGGCGTGAAGAACTCAG CTCCACCCAGAAATTCCAGGACCTGGGTGTGAAGAACTCAG < 41bp 1 0.682777125730386 1 0.997238397598267 experiment 0.634445748539229 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 28 SEPT9 ENSG00000184640 CDS Human protein_coding chr17:75398258 chr17:75398265 synonymous SNV . 0 hm6A_associated_SNPs_66625 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000318320.1
2938 chr17 75398265 75398265 1 + C T STAD 75398280 + 75398260 75398300 41 CTGGGCGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGA CTGGGTGTGAAGAACTCAGAACCCTCGGCCCGCCATGTGGA < 41bp 1 0.582101922173776 1 0.996323943138123 experiment 0.835796155652447 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 6 SEPT9 ENSG00000184640 CDS Human protein_coding chr17:75398280 chr17:75398265 synonymous SNV . 0 hm6A_associated_SNPs_66626 1 Likely benign Hereditary Neuralgic Amyotrophy (HNA) RCV000318320.1
2939 chr16 2131648 2131648 1 + G A STAD 2131650 + 2131630 2131670 41 GCTCAGCCCTTTCTCCTCGGACATCAACAACATGCCCCTGC GCTCAGCCCTTTCTCCTCAGACATCAACAACATGCCCCTGC < 41bp 1 0.711070172892352 1 0.878321409225464 experiment 0.577859654215297 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 19 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2131650 chr16:2131648 synonymous SNV . 0 hm6A_associated_SNPs_66708 1 not provided Tuberous sclerosis syndrome RCV000042793.2
2940 chr1 2234480 2234480 1 + G A STAD 2234460 + 2234440 2234480 41 CATAAGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCG CATAAGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCA < 41bp 1 0.574965729327903 1 0.91821813583374 experiment 0.850068541344194 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 41 SKI ENSG00000157933 CDS Human protein_coding chr1:2234460 chr1:2234480 nonsynonymous SNV 0.092 1 hm6A_associated_SNPs_66744 2 Likely benign not specified RCV000200606.3
2941 chr1 2234480 2234480 1 + G A STAD 2234460 + 2234440 2234480 41 CATAAGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCG CATAAGACCCAAAACAGATGACACCTCTTCCCAGTCCCCCA < 41bp 1 0.574965729327903 1 0.91821813583374 experiment 0.850068541344194 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 41 SKI ENSG00000157933 CDS Human protein_coding chr1:2234460 chr1:2234480 nonsynonymous SNV 0.092 1 hm6A_associated_SNPs_66744 2 Uncertain significance Shprintzen-Goldberg syndrome RCV000474882.1
2942 chr20 3897602 3897602 1 + C T STAD 3897582 + 3897562 3897602 41 CCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGC CCCCCATCACAGCTTTGGAAACATGATGAGCAAGGAGAAGT < 41bp 1 0.627843919775733 1 0.911083459854126 experiment 0.744312160448534 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 41 PANK2 ENSG00000125779 CDS Human protein_coding chr20:3897582 chr20:3897602 stopgain 0.996 1 hm6A_associated_SNPs_66764 1 Pathogenic Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration RCV000004818.2
2943 chr16 30732093 30732093 1 + G A STAD 30732084 + 30732064 30732104 41 CCGGACAGTGGTGGTGGTGAACAACCCACGGGCGCCCCTGG CCGGACAGTGGTGGTGGTGAACAACCCACAGGCGCCCCTGG < 41bp 1 0.73685556405476 1 0.180421561002731 experiment 0.52628887189048 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 30 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30732084 chr16:30732093 nonsynonymous SNV 0.916 3 hm6A_associated_SNPs_66916 1 Uncertain significance not specified RCV000397138.1
2944 chr7 147675067 147675067 1 + G A STAD 147675079 + 147675059 147675099 41 TCCTCTGCGCTGCCAAGGAGACAGTAAGTTTGCATAGCAGC TCCTCTGCACTGCCAAGGAGACAGTAAGTTTGCATAGCAGC < 41bp 1 0.0705434491829288 1 0.609465301036835 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 9 CNTNAP2 ENSG00000174469 CDS Human protein_coding chr7:147675079 chr7:147675067 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_66936 1 Uncertain significance not specified RCV000187157.4
2945 chr19 50906824 50906824 1 + G A STAD 50906811 + 50906791 50906831 41 CACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCA CACCGGTTACAACATCCAGAACTTCGACCTTCCATACCTCA < 41bp 1 0.259809012784187 1 0.876441538333893 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906811 chr19:50906824 synonymous SNV . 0 hm6A_associated_SNPs_67035 2 Likely benign not specified RCV000431427.1
2946 chr19 50906824 50906824 1 + G A STAD 50906811 + 50906791 50906831 41 CACCGGTTACAACATCCAGAACTTCGACCTTCCGTACCTCA CACCGGTTACAACATCCAGAACTTCGACCTTCCATACCTCA < 41bp 1 0.259809012784187 1 0.876441538333893 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 34 POLD1 ENSG00000062822 CDS Human protein_coding chr19:50906811 chr19:50906824 synonymous SNV . 0 hm6A_associated_SNPs_67035 2 Likely benign Colorectal cancer 10 RCV000457147.1
2947 chr17 16137311 16137311 1 + C T STAD 16137322 + 16137302 16137342 41 GGAGAGACTCGTAAGAAAGAACTTTTGCAGAGCTGTGATGT GGAGAGACTTGTAAGAAAGAACTTTTGCAGAGCTGTGATGT < 41bp 1 0.350415283154248 1 0.19485530257225 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 10 PIGL ENSG00000108474 CDS Human protein_coding chr17:16137322 chr17:16137311 nonsynonymous SNV 0.999 5 hm6A_associated_SNPs_67174 1 Likely pathogenic not provided RCV000481931.1
2948 chr17 29653028 29653028 1 + G A STAD 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCACAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.700501508740589 1 0.724219799041748 experiment 0.598996982518822 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 5 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653028 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_67306 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000223466.1
2949 chr17 29653028 29653028 1 + G A STAD 29653044 + 29653024 29653064 41 CTCCGCAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG CTCCACAGTCTATATCTATAACTGTAACTCCTGGGTCAGGG < 41bp 1 0.700501508740589 1 0.724219799041748 experiment 0.598996982518822 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 5 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653044 chr17:29653028 nonsynonymous SNV 0.997 2 hm6A_associated_SNPs_67306 2 Uncertain significance Neurofibromatosis, type 1 RCV000463631.1
2950 chr5 1814513 1814513 1 + C T STAD 1814510 + 1814490 1814530 41 AGCCCGTGAGCGAGGTGGAGACTCGGGTGATAGCGTGCGAT AGCCCGTGAGCGAGGTGGAGACTTGGGTGATAGCGTGCGAT < 41bp 1 0.5495901266071 1 0.680038094520569 experiment 0.9008197467858 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 24 NDUFS6 ENSG00000145494 CDS Human protein_coding chr5:1814510 chr5:1814513 nonsynonymous SNV 0.003 4 hm6A_associated_SNPs_67330 1 Likely pathogenic not provided RCV000199698.2
2951 chr1 160098557 160098557 1 + C T STAD 160098545 + 160098525 160098565 41 CACGTCCACCATCTGCTCGGACAAGACGGGCACCCTCACCC CACGTCCACCATCTGCTCGGACAAGACGGGCATCCTCACCC < 41bp 1 0.693628019482752 1 0.958127379417419 experiment 0.612743961034495 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 33 ATP1A2 ENSG00000018625 CDS Human protein_coding chr1:160098545 chr1:160098557 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_67337 1 Uncertain significance not specified RCV000429188.1
2952 chr1 247588450 247588450 1 + G A STAD 247588436 + 247588416 247588456 41 CGTGACAGTCCTTCTGGAAAACTATGGCAAATTCGAAAAGG CGTGACAGTCCTTCTGGAAAACTATGGCAAATTCAAAAAGG < 41bp 1 0.346255546760694 1 0.999741315841675 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 35 NLRP3 ENSG00000162711 CDS Human protein_coding chr1:247588436 chr1:247588450 nonsynonymous SNV 0.991 4 hm6A_associated_SNPs_67465 1 not provided Familial cold urticaria RCV000084203.1
2953 chr12 110780120 110780120 1 + G A STAD 110780117 + 110780097 110780137 41 CTGGCACTGCGGTGGCTAAAACCGCCTCTGAGATGGTCCTG CTGGCACTGCGGTGGCTAAAACCACCTCTGAGATGGTCCTG < 41bp 1 0.168268794359913 1 0.921073794364929 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 ATP2A2 ENSG00000174437 CDS Human protein_coding chr12:110780117 chr12:110780120 nonsynonymous SNV 0.977 5 hm6A_associated_SNPs_67546 1 Uncertain significance Keratosis follicularis RCV000352416.1
2954 chr12 112915738 112915738 1 + G A STAD 112915734 + 112915714 112915754 41 CACACAAGGCTGCCTGCAAAACACGGTGAATGACTTTTGGC CACACAAGGCTGCCTGCAAAACACAGTGAATGACTTTTGGC < 41bp 1 0.741195548841318 1 0.872780501842499 experiment 0.517608902317363 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915734 chr12:112915738 synonymous SNV . 0 hm6A_associated_SNPs_67617 1 Likely benign not specified RCV000252825.2
2955 chr12 112915738 112915738 1 + G A STAD 112915746 + 112915726 112915766 41 CCTGCAAAACACGGTGAATGACTTTTGGCGGATGGTGTTCC CCTGCAAAACACAGTGAATGACTTTTGGCGGATGGTGTTCC < 41bp 1 0.449272691935145 1 0.95987194776535 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 13 PTPN11 ENSG00000179295 CDS Human protein_coding chr12:112915746 chr12:112915738 synonymous SNV . 0 hm6A_associated_SNPs_67618 1 Likely benign not specified RCV000252825.2
2956 chr5 256491 256491 1 + G A STAD 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACAAGGCTGACTGTGCCACCGTCCCGCCAG < 41bp 1 0.728582344448941 1 0.922620415687561 experiment 0.542835311102118 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 14 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256491 nonsynonymous SNV 0.994 0 hm6A_associated_SNPs_67671 2 Uncertain significance Mitochondrial complex II deficiency RCV000204436.2
2957 chr5 256491 256491 1 + G A STAD 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACAAGGCTGACTGTGCCACCGTCCCGCCAG < 41bp 1 0.728582344448941 1 0.922620415687561 experiment 0.542835311102118 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 14 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256491 nonsynonymous SNV 0.994 0 hm6A_associated_SNPs_67671 2 Uncertain significance Paragangliomas 5 RCV000204436.2
2958 chr15 91333930 91333930 1 + C T STAD 91333916 + 91333896 91333936 41 TGCATTTGGAATGGGGATTGACAAACCGGACGTGCGATTTG TGCATTTGGAATGGGGATTGACAAACCGGACGTGTGATTTG < 41bp 1 0.687244078398987 1 0.817493319511414 experiment 0.625511843202026 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 35 BLM ENSG00000197299 CDS Human protein_coding chr15:91333916 chr15:91333930 stopgain 0.984 1 hm6A_associated_SNPs_67684 1 Pathogenic Bloom syndrome RCV000469284.1
2959 chr15 38591731 38591731 1 + C T STAD 38591741 + 38591721 38591761 41 CCGTGGAGAGCGACTCAGGGACAAAATGGTAATGAATAATG CCGTGGAGAGTGACTCAGGGACAAAATGGTAATGAATAATG < 41bp 1 0.39645859910243 1 0.837150573730469 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 11 SPRED1 ENSG00000166068 CDS Human protein_coding chr15:38591741 chr15:38591731 stopgain 1.000 1 hm6A_associated_SNPs_67706 1 Pathogenic Legius syndrome RCV000001886.2
2960 chr16 15785104 15785104 1 + G A STAD 15785085 + 15785065 15785105 41 AGTGGAAGCTGAGAGGACAGACACAGCTGTGCAGGCCACGG AGTGGAAGCTGAGAGGACAGACACAGCTGTGCAGGCCACAG < 41bp 1 0.504636273997409 1 0.204242438077927 experiment 0.990727452005183 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 40 NDE1 ENSG00000072864 CDS Human protein_coding chr16:15785085 chr16:15785104 synonymous SNV . 0 hm6A_associated_SNPs_67802 1 Likely benign not specified RCV000500161.1
2961 chr16 2138052 2138052 1 + T C STAD 2138067 + 2138047 2138087 41 AGACATGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG AGACACGGAGGGCCTTGTGGACACCAGCGTGGCCAAGATCG < 41bp 1 0.630822241363374 1 0.978630781173706 experiment 0.738355517273251 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 6 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2138067 chr16:2138052 nonsynonymous SNV 0.986 2 hm6A_associated_SNPs_67813 1 not provided Autism spectrum disorders RCV000055361.1
2962 chr2 166246013 166246013 1 + G A STAD 166246025 + 166246005 166246045 41 ACGACCACGTTGAAACGCAAACAAGAGGAGGTGTCTGCTAT ACGACCACATTGAAACGCAAACAAGAGGAGGTGTCTGCTAT < 41bp 1 0.550543233273127 1 0.980916738510132 experiment 0.898913533453746 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 9 SCN2A ENSG00000136531 CDS Human protein_coding chr2:166246025 chr2:166246013 synonymous SNV . 0 hm6A_associated_SNPs_67814 1 Likely benign not specified RCV000433088.1
2963 chr9 130438929 130438929 1 + C T STAD 130438944 + 130438924 130438964 41 CATCACGGAGGAAAACCTGAACAAACTGATCCAGCACGCCC CATCATGGAGGAAAACCTGAACAAACTGATCCAGCACGCCC < 41bp 1 0.519487674156437 1 0.798412084579468 experiment 0.961024651687126 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 6 STXBP1 ENSG00000136854 CDS Human protein_coding chr9:130438944 chr9:130438929 nonsynonymous SNV 0.973 4 hm6A_associated_SNPs_67816 1 Uncertain significance not specified RCV000189617.2
2964 chr12 57906632 57906632 1 + C T STAD 57906624 + 57906604 57906644 41 GGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC GGACACGGGGATCCCTGCTGACATCTGGTGCTTCTATCTGC < 41bp 1 0.770125367724635 1 0.0863826274871826 experiment 0.459749264550731 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 MARS ENSG00000166986 CDS Human protein_coding chr12:57906624 chr12:57906632 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_67855 3 Pathogenic Charcot-Marie-Tooth disease, axonal, type 2u RCV000144083.5
2965 chr12 57906632 57906632 1 + C T STAD 57906624 + 57906604 57906644 41 GGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC GGACACGGGGATCCCTGCTGACATCTGGTGCTTCTATCTGC < 41bp 1 0.770125367724635 1 0.0863826274871826 experiment 0.459749264550731 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 MARS ENSG00000166986 CDS Human protein_coding chr12:57906624 chr12:57906632 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_67855 3 Pathogenic Charcot-Marie-Tooth disease RCV000192267.1
2966 chr12 57906632 57906632 1 + C T STAD 57906624 + 57906604 57906644 41 GGACACGGGGATCCCTGCTGACATCTGGCGCTTCTATCTGC GGACACGGGGATCCCTGCTGACATCTGGTGCTTCTATCTGC < 41bp 1 0.770125367724635 1 0.0863826274871826 experiment 0.459749264550731 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 MARS ENSG00000166986 CDS Human protein_coding chr12:57906624 chr12:57906632 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_67855 3 Uncertain significance not specified RCV000478608.1
2967 chr17 78078703 78078703 1 + C T STAD 78078688 + 78078668 78078708 41 GACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGCGGCTG GACAAGGCCATCACCCAGGAACAGTGCGAGGCCCGTGGCTG < 41bp 1 0.760371439026714 1 0.985982418060303 experiment 0.479257121946572 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 36 GAA ENSG00000171298 CDS Human protein_coding chr17:78078688 chr17:78078703 synonymous SNV . 0 hm6A_associated_SNPs_67985 1 Uncertain significance not specified RCV000175530.1
2968 chr6 121768598 121768598 1 + G A STAD 121768583 + 121768563 121768603 41 TCCCTGCCCACATCAGGTGGACTGTTTCCTCTCTCGCCCCA TCCCTGCCCACATCAGGTGGACTGTTTCCTCTCTCACCCCA < 41bp 1 0.761122522814826 1 0.995224237442017 experiment 0.477754954370349 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 36 GJA1 ENSG00000152661 CDS Human protein_coding chr6:121768583 chr6:121768598 nonsynonymous SNV 0.785 5 hm6A_associated_SNPs_68014 1 Pathogenic not provided RCV000413018.1
2969 chr5 36955688 36955688 1 + A G STAD 36955685 + 36955665 36955705 41 CCTTTTGGCTTGTAGGGATGACAATTTGGTTTCACAGCTTG CCTTTTGGCTTGTAGGGATGACAGTTTGGTTTCACAGCTTG < 41bp 1 0.591976928718132 1 0.0109736323356628 experiment 0.816046142563736 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 24 NIPBL ENSG00000164190 CDS Human protein_coding chr5:36955685 chr5:36955688 nonsynonymous SNV 0.997 1 hm6A_associated_SNPs_68051 1 Likely benign Cornelia de Lange Syndrome RCV000284905.1
2970 chr19 52715979 52715979 1 + C T STAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGTGGCGGG < 41bp 1 0.514738651474796 1 0.06543830037117 experiment 0.970522697050408 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715979 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_68181 2 Pathogenic Mental retardation, autosomal dominant 36 RCV000170500.4
2971 chr19 52715979 52715979 1 + C T STAD 52715965 + 52715945 52715985 41 CCGGAACCTGTGCTCAGATGACACCCCCATGGTGCGGCGGG CCGGAACCTGTGCTCAGATGACACCCCCATGGTGTGGCGGG < 41bp 1 0.514738651474796 1 0.06543830037117 experiment 0.970522697050408 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 35 PPP2R1A ENSG00000105568 CDS Human protein_coding chr19:52715965 chr19:52715979 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_68181 2 Pathogenic not provided RCV000412854.1
2972 chr18 72998422 72998422 1 + C T STAD 72998435 + 72998415 72998455 41 CAAAAAGCGGGCGCTTCAGGACCTGGCGCCCCCCTGCTCCC CAAAAAGTGGGCGCTTCAGGACCTGGCGCCCCCCTGCTCCC < 41bp 1 0.785737636239984 1 0.999943912029266 experiment 0.428524727520031 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 8 TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72998435 chr18:72998422 nonsynonymous SNV 0.937 4 hm6A_associated_SNPs_68236 1 Likely benign Aural atresia, congenital RCV000308146.1
2973 chr1 76226868 76226868 1 + G A STAD 76226854 + 76226834 76226874 41 GAAATGGCAATGAAAGTTGAACTAGCTAGAATGAGTTACCA GAAATGGCAATGAAAGTTGAACTAGCTAGAATGAATTACCA < 41bp 1 0.290208116721092 1 0.231621861457825 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31548708;GSE125780;DART-seq;HEK293T;Control 35 ACADM ENSG00000117054 CDS Human protein_coding chr1:76226854 chr1:76226868 nonsynonymous SNV 0.981 1 hm6A_associated_SNPs_68313 1 Uncertain significance not specified RCV000173950.1
2974 chr21 47552160 47552160 1 + C T STAD 47552141 + 47552121 47552161 41 GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCG GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGTG < 41bp 1 0.738453455453593 1 0.997482657432556 experiment 0.523093089092815 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552141 chr21:47552160 synonymous SNV . 0 hm6A_associated_SNPs_68326 1 Likely benign not specified RCV000420074.1
2975 chr10 76788300 76788300 1 + G A STAD 76788302 + 76788282 76788322 41 GGCAGTAAAGACAATCCCGAACCTCTAAAGTGCAAACAAGT GGCAGTAAAGACAATCCCAAACCTCTAAAGTGCAAACAAGT < 41bp 1 0.628150842749321 1 0.913744330406189 experiment 0.743698314501358 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 19 KAT6B ENSG00000156650 CDS Human protein_coding chr10:76788302 chr10:76788300 nonsynonymous SNV 0.990 4 hm6A_associated_SNPs_68378 1 Likely benign KAT6B-Related Spectrum Disorders RCV000314235.1
2976 chr7 30638425 30638425 1 + G A STAD 30638429 + 30638409 30638449 41 TAGGGAGATCTTGTGCGAAAACTCAAAGAAGATAAAGCACC TAGGGAGATCTTGTGCAAAAACTCAAAGAAGATAAAGCACC < 41bp 1 0.372557372585264 1 0.51608681678772 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 GARS ENSG00000106105 CDS Human protein_coding chr7:30638429 chr7:30638425 nonsynonymous SNV 0.995 4 hm6A_associated_SNPs_68392 1 Uncertain significance Charcot-Marie-Tooth disease, type 2 RCV000168116.2
2977 chr15 99451976 99451976 1 + G A TGCT 99451970 + 99451950 99451990 41 GCAGCAACTGTGGGACTGGGACCACCGCAACCTGACCATCA GCAGCAACTGTGGGACTGGGACCACCACAACCTGACCATCA < 41bp 1 0.228485813328014 1 0.971068859100342 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 27 IGF1R ENSG00000140443 CDS Human protein_coding chr15:99451970 chr15:99451976 nonsynonymous SNV 0.912 1 hm6A_associated_SNPs_68685 1 Likely benign not specified RCV000179350.1
2978 chr15 99451976 99451976 1 + G A TGCT 99451984 + 99451964 99452004 41 ACTGGGACCACCGCAACCTGACCATCAAAGCAGGGAAAATG ACTGGGACCACCACAACCTGACCATCAAAGCAGGGAAAATG < 41bp 1 0.198366806177319 1 0.978522539138794 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 IGF1R ENSG00000140443 CDS Human protein_coding chr15:99451984 chr15:99451976 nonsynonymous SNV 0.912 1 hm6A_associated_SNPs_68686 1 Likely benign not specified RCV000179350.1
2979 chr21 47754549 47754549 1 + G A THCA 47754544 + 47754524 47754564 41 GTCAGTGACCACCCACCAGAACAGCGTGGGATGTTCACAAT GTCAGTGACCACCCACCAGAACAGCATGGGATGTTCACAAT < 41bp 1 0.233200649048403 1 0.881838440895081 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 26 PCNT ENSG00000160299 CDS Human protein_coding chr21:47754544 chr21:47754549 nonsynonymous SNV 0.028 1 hm6A_associated_SNPs_68764 1 Benign not specified RCV000147142.1
2980 chr5 256514 256514 1 + G C THCA 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCCCCAG < 41bp 1 0.727830349891087 1 0.905152082443237 experiment 0.544339300217826 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 37 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256514 synonymous SNV . 0 hm6A_associated_SNPs_68793 3 Likely benign Mitochondrial complex II deficiency RCV000239372.2
2981 chr5 256514 256514 1 + G C THCA 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCCCCAG < 41bp 1 0.727830349891087 1 0.905152082443237 experiment 0.544339300217826 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 37 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256514 synonymous SNV . 0 hm6A_associated_SNPs_68793 3 Likely benign Paragangliomas 5 RCV000239372.2
2982 chr5 256514 256514 1 + G C THCA 256498 + 256478 256518 41 CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCGCCAG CAAAACTTTGAACGAGGCTGACTGTGCCACCGTCCCCCCAG < 41bp 1 0.727830349891087 1 0.905152082443237 experiment 0.544339300217826 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 37 SDHA ENSG00000073578 CDS Human protein_coding chr5:256498 chr5:256514 synonymous SNV . 0 hm6A_associated_SNPs_68793 3 Likely benign not specified RCV000427231.1
2983 chr3 37035147 37035147 1 + G T THYM 37035151 + 37035131 37035171 41 TATCAAAGAGATGATTGAGAACTGGTACGGAGGGAGTCGAG TATCAAAGAGATGATTTAGAACTGGTACGGAGGGAGTCGAG < 41bp 1 0.586897534911571 1 0.988775730133057 experiment 0.826204930176858 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 17 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37035151 chr3:37035147 stopgain 1.000 1 hm6A_associated_SNPs_69011 1 Pathogenic Lynch syndrome RCV000075111.2
2984 chr13 32913026 32913026 1 + C T UCEC 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA TGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA < 41bp 1 0.523395091209442 1 0.972580969333649 experiment 0.953209817581116 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 1 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913026 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_69290 3 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000044428.3
2985 chr13 32913026 32913026 1 + C T UCEC 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA TGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA < 41bp 1 0.523395091209442 1 0.972580969333649 experiment 0.953209817581116 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 1 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913026 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_69290 3 Uncertain significance Breast-ovarian cancer, familial 2 RCV000113312.1
2986 chr13 32913026 32913026 1 + C T UCEC 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA TGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA < 41bp 1 0.523395091209442 1 0.972580969333649 experiment 0.953209817581116 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 1 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913026 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_69290 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000130950.3
2987 chr11 108199881 108199881 1 + C T UCEC 108199893 + 108199873 108199913 41 GAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA GAAATCATTGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA < 41bp 1 0.758280591148497 1 0.0512467324733734 experiment 0.483438817703005 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 ATM ENSG00000149311 CDS Human protein_coding chr11:108199893 chr11:108199881 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_69463 3 Uncertain significance not specified RCV000159648.2
2988 chr11 108199881 108199881 1 + C T UCEC 108199893 + 108199873 108199913 41 GAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA GAAATCATTGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA < 41bp 1 0.758280591148497 1 0.0512467324733734 experiment 0.483438817703005 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 ATM ENSG00000149311 CDS Human protein_coding chr11:108199893 chr11:108199881 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_69463 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000215742.1
2989 chr11 108199881 108199881 1 + C T UCEC 108199893 + 108199873 108199913 41 GAAATCATCGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA GAAATCATTGGAATTTGAAAACAAGCAAGCTCTCCTGAAAA < 41bp 1 0.758280591148497 1 0.0512467324733734 experiment 0.483438817703005 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 9 ATM ENSG00000149311 CDS Human protein_coding chr11:108199893 chr11:108199881 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_69463 3 Uncertain significance Ataxia-telangiectasia syndrome RCV000382704.2
2990 chr10 89692896 89692896 1 + G T UCEC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGTAAAGGGACGAACTGGTGTAATGATATGTGCA < 41bp 1 0.31220375304169 1 0.785883784294128 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 10 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692896 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_69547 1 Uncertain significance not provided RCV000078614.3
2991 chr17 29654757 29654757 1 + G A UCEC 29654744 + 29654724 29654764 41 CATATCCGGACCCGCTGGGAACTGTCACAGCCCGACTCTAT CATATCCGGACCCGCTGGGAACTGTCACAGCCCAACTCTAT < 41bp 1 0.255709222326237 1 0.957491815090179 experiment 1 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 34 NF1 ENSG00000196712 CDS Human protein_coding chr17:29654744 chr17:29654757 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_69883 1 Uncertain significance not specified RCV000218141.1
2992 chrX 41204491 41204491 1 + C T UCEC 41204505 + 41204485 41204525 41 CAGATTCGTAGAATAGTCGAACAAGATACTATGCCTCCAAA CAGATTTGTAGAATAGTCGAACAAGATACTATGCCTCCAAA < 41bp 1 0.650640529992013 1 0.182313352823257 experiment 0.698718940015974 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 7 DDX3X ENSG00000215301 CDS Human protein_coding chrX:41204505 chrX:41204491 nonsynonymous SNV 0.589 4 hm6A_associated_SNPs_69962 1 Pathogenic Mental retardation, X-linked 102 RCV000190554.3
2993 chr4 159627843 159627843 1 + G A UCEC 159627848 + 159627828 159627868 41 GAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTT GAGTATCCAAAACCCAATGGACAGATCAGTTTTGACCTCTT < 41bp 1 0.734796901090824 1 0.987941265106201 experiment 0.530406197818353 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 16 ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627848 chr4:159627843 nonsynonymous SNV 0.873 5 hm6A_associated_SNPs_70031 2 Uncertain significance not specified RCV000174333.1
2994 chr4 159627843 159627843 1 + G A UCEC 159627848 + 159627828 159627868 41 GAGTATCCAAAACCCGATGGACAGATCAGTTTTGACCTCTT GAGTATCCAAAACCCAATGGACAGATCAGTTTTGACCTCTT < 41bp 1 0.734796901090824 1 0.987941265106201 experiment 0.530406197818353 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|31279658;GSE122948;miCLIP;HEK293T;Control 16 ETFDH ENSG00000171503 CDS Human protein_coding chr4:159627848 chr4:159627843 nonsynonymous SNV 0.873 5 hm6A_associated_SNPs_70031 2 Likely pathogenic Glutaric aciduria, type 2 RCV000275519.1
2995 chr10 75849902 75849902 1 + G A UCEC 75849893 + 75849873 75849913 41 TGATCCTAAAGAAAGAGATGACATTCTACGTTCCCTTGGGG TGATCCTAAAGAAAGAGATGACATTCTACATTCCCTTGGGG < 41bp 1 0.682560076007166 1 0.0153500437736511 experiment 0.634879847985668 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 30 VCL ENSG00000035403 CDS Human protein_coding chr10:75849893 chr10:75849902 nonsynonymous SNV 0.988 4 hm6A_associated_SNPs_70126 1 Uncertain significance not specified RCV000183997.1
2996 chrX 153609262 153609262 1 + G A UCEC 153609265 + 153609245 153609285 41 ACGCCCCATGTACGGCCGGGACAGTGCCTACCAGAGCATCA ACGCCCCATGTACGGCCAGGACAGTGCCTACCAGAGCATCA < 41bp 1 0.72992670252006 1 0.884381473064423 experiment 0.54014659495988 Functional Loss 26121403;GSE63753;miCLIP;HEK293;Control|31279658;GSE122948;miCLIP;HEK293T;Control 18 EMD ENSG00000102119 CDS Human protein_coding chrX:153609265 chrX:153609262 nonsynonymous SNV 0.182 1 hm6A_associated_SNPs_70208 1 Likely pathogenic Cardiomyopathy RCV000029690.1
2997 chr10 101591565 101591565 1 + C T UCEC 101591546 + 101591526 101591566 41 CTATCCAGCATCTCAGAGGGACATGAGAGTTGGAGTCTACG CTATCCAGCATCTCAGAGGGACATGAGAGTTGGAGTCTATG < 41bp 1 0.308909611820351 1 0.811499655246735 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 40 ABCC2 ENSG00000023839 CDS Human protein_coding chr10:101591546 chr10:101591565 synonymous SNV . 0 hm6A_associated_SNPs_70223 1 Uncertain significance not specified RCV000309931.1
2998 chr14 102471423 102471423 1 + C T UCEC 102471430 + 102471410 102471450 41 CCTGGTCTGAGAACGTGGAGACCGCACTGAGCAGCATGGGC CCTGGTCTGAGAATGTGGAGACCGCACTGAGCAGCATGGGC < 41bp 1 0.0569182354583537 1 0.311167120933533 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 14 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102471430 chr14:102471423 synonymous SNV . 0 hm6A_associated_SNPs_70423 1 Likely benign not specified RCV000436507.1
2999 chr19 18278070 18278070 1 + A G UCEC 18278062 + 18278042 18278082 41 AGAGATCGACAAGCGCATGAACAGCCTCAAGCCGGACCTCA AGAGATCGACAAGCGCATGAACAGCCTCGAGCCGGACCTCA < 41bp 1 0.707805424762816 1 0.965610921382904 experiment 0.584389150474367 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 29 PIK3R2 ENSG00000105647;ENSG00000268173 CDS Human other chr19:18278062 chr19:18278070 nonsynonymous SNV 0.986 4 hm6A_associated_SNPs_70429 1 Pathogenic not provided RCV000331753.1
3000 chr9 134390889 134390889 1 + G A UCEC 134390875 + 134390855 134390895 41 CTCCTGCTACATTGACTATAACATCTCCATGCCCGCCCAGA CTCCTGCTACATTGACTATAACATCTCCATGCCCACCCAGA < 41bp 1 0.642321918537129 1 0.961226940155029 experiment 0.715356162925742 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 35 POMT1 ENSG00000130714 CDS Human protein_coding chr9:134390875 chr9:134390889 nonsynonymous SNV 0.622 3 hm6A_associated_SNPs_70460 1 Uncertain significance not specified RCV000153045.3
3001 chr10 102748875 102748875 1 + G A UCEC 102748864 + 102748844 102748884 41 GCCTTACTCCCTTACCTGGAACAGTTCCGGCGGATTGTATT GCCTTACTCCCTTACCTGGAACAGTTCCGGCAGATTGTATT < 41bp 1 0.79966779240012 1 0.995414018630981 experiment 0.40066441519976 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 32 TWNK ENSG00000107815 CDS Human protein_coding chr10:102748864 chr10:102748875 nonsynonymous SNV 0.928 4 hm6A_associated_SNPs_70464 1 Pathogenic Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 RCV000004891.6
3002 chr14 102483494 102483494 1 + G A UCEC 102483476 + 102483456 102483496 41 CTCCAGAGCTGCTTCTGAAGACTTTTGATCACTACTGCGAG CTCCAGAGCTGCTTCTGAAGACTTTTGATCACTACTGCAAG < 41bp 1 0.290586691035832 1 0.985785007476807 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 39 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102483476 chr14:102483494 nonsynonymous SNV 0.933 4 hm6A_associated_SNPs_70549 2 Uncertain significance not specified RCV000192412.1
3003 chr14 102483494 102483494 1 + G A UCEC 102483476 + 102483456 102483496 41 CTCCAGAGCTGCTTCTGAAGACTTTTGATCACTACTGCGAG CTCCAGAGCTGCTTCTGAAGACTTTTGATCACTACTGCAAG < 41bp 1 0.290586691035832 1 0.985785007476807 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 39 DYNC1H1 ENSG00000197102 CDS Human protein_coding chr14:102483476 chr14:102483494 nonsynonymous SNV 0.933 4 hm6A_associated_SNPs_70549 2 Likely pathogenic not provided RCV000236144.2
3004 chr11 68707073 68707073 1 + C T UCEC 68707083 + 68707063 68707103 41 TCCTCTATGCCGGCAGCGGGACCAAGAACGGATCCCTGGAC TCCTCTATGCTGGCAGCGGGACCAAGAACGGATCCCTGGAC < 41bp 1 0.675501724721593 1 0.870560586452484 experiment 0.648996550556813 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 11 IGHMBP2 ENSG00000132740 CDS Human protein_coding chr11:68707083 chr11:68707073 synonymous SNV . 0 hm6A_associated_SNPs_70636 1 Uncertain significance Spinal muscular atrophy RCV000349487.1
3005 chr5 236638 236638 1 + C T UCEC 236646 + 236626 236666 41 TGCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTG TGCCAACCGCCTTGGGGCAAACTCGCTCTTGGACCTGGTTG < 41bp 1 0.366364974090492 1 0.0917398035526276 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 SDHA ENSG00000073578 CDS Human protein_coding chr5:236646 chr5:236638 synonymous SNV . 0 hm6A_associated_SNPs_70697 3 Likely benign not specified RCV000420514.1
3006 chr5 236638 236638 1 + C T UCEC 236646 + 236626 236666 41 TGCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTG TGCCAACCGCCTTGGGGCAAACTCGCTCTTGGACCTGGTTG < 41bp 1 0.366364974090492 1 0.0917398035526276 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 SDHA ENSG00000073578 CDS Human protein_coding chr5:236646 chr5:236638 synonymous SNV . 0 hm6A_associated_SNPs_70697 3 Likely benign Mitochondrial complex II deficiency RCV000464405.1
3007 chr5 236638 236638 1 + C T UCEC 236646 + 236626 236666 41 TGCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTG TGCCAACCGCCTTGGGGCAAACTCGCTCTTGGACCTGGTTG < 41bp 1 0.366364974090492 1 0.0917398035526276 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 SDHA ENSG00000073578 CDS Human protein_coding chr5:236646 chr5:236638 synonymous SNV . 0 hm6A_associated_SNPs_70697 3 Likely benign Paragangliomas 5 RCV000464405.1
3008 chr5 236638 236638 1 + C T UCEC 236658 + 236638 236678 41 CGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG TGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG < 41bp 1 0.323670459112233 1 0.215067654848099 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 SDHA ENSG00000073578 CDS Human protein_coding chr5:236658 chr5:236638 synonymous SNV . 0 hm6A_associated_SNPs_70698 3 Likely benign not specified RCV000420514.1
3009 chr5 236638 236638 1 + C T UCEC 236658 + 236638 236678 41 CGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG TGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG < 41bp 1 0.323670459112233 1 0.215067654848099 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 SDHA ENSG00000073578 CDS Human protein_coding chr5:236658 chr5:236638 synonymous SNV . 0 hm6A_associated_SNPs_70698 3 Likely benign Mitochondrial complex II deficiency RCV000464405.1
3010 chr5 236638 236638 1 + C T UCEC 236658 + 236638 236678 41 CGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG TGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG < 41bp 1 0.323670459112233 1 0.215067654848099 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 SDHA ENSG00000073578 CDS Human protein_coding chr5:236658 chr5:236638 synonymous SNV . 0 hm6A_associated_SNPs_70698 3 Likely benign Paragangliomas 5 RCV000464405.1
3011 chr10 89692917 89692917 1 + T C UCEC 89692907 + 89692887 89692927 41 GTAAAGCTGGAAAGGGACGAACTGGTGTAATGATATGTGCA GTAAAGCTGGAAAGGGACGAACTGGTGTAACGATATGTGCA < 41bp 1 0.339393981613491 1 0.820188760757446 experiment 1 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control|31279658;GSE122948;miCLIP;HEK293T;Control 31 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692907 chr10:89692917 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_71232 2 Pathogenic,Likely pathogenic PTEN hamartoma tumor syndrome,not provided RCV000490616.1,RCV000498118.1
3012 chr9 140707512 140707512 1 + G A UCEC 140707496 + 140707476 140707516 41 TTCAGATGTCACCTTAAAGAACAAGGAAGGAGAGACGCCCC TTCAGATGTCACCTTAAAGAACAAGGAAGGAGAGACACCCC < 41bp 1 0.694120226356772 1 0.659645318984985 experiment 0.611759547286456 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 37 EHMT1 ENSG00000181090 CDS Human protein_coding chr9:140707496 chr9:140707512 synonymous SNV . 0 hm6A_associated_SNPs_71315 1 Uncertain significance Chromosome 9q deletion syndrome RCV000385184.1
3013 chr21 47552401 47552401 1 + G A UCEC 47552381 + 47552361 47552401 41 CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACG CACCACGCTCAGCCTGGGTGACCGCGCCGCCGTGTTCCACA < 41bp 1 0.230350257426539 1 0.999484658241272 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control 41 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552381 chr21:47552401 nonsynonymous SNV 0.522 2 hm6A_associated_SNPs_71608 1 Uncertain significance not specified RCV000311292.1
3014 chr7 30668230 30668230 1 + T C UCEC 30668246 + 30668226 30668266 41 ATCATGTATACGGTATTTGAACATACATTCCATGTACGAGA ATCACGTATACGGTATTTGAACATACATTCCATGTACGAGA < 41bp 1 0.782696907292597 1 0.800277829170227 experiment 0.434606185414806 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 5 GARS ENSG00000106105 CDS Human protein_coding chr7:30668246 chr7:30668230 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_71622 1 Uncertain significance not specified RCV000235889.1
3015 chr11 126144865 126144865 1 + C T UCEC 126144869 + 126144849 126144889 41 GTCTCCTGATCAGCTTCGGAACAAGTTTCCCTGGATAAACA GTCTCCTGATCAGCTTTGGAACAAGTTTCCCTGGATAAACA < 41bp 1 0.723304762810727 1 0.0222934186458588 experiment 0.553390474378545 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 17 FOXRED1 ENSG00000110074 CDS Human protein_coding chr11:126144869 chr11:126144865 nonsynonymous SNV 0.976 4 hm6A_associated_SNPs_71645 1 Uncertain significance Mitochondrial complex I deficiency RCV000314230.1
3016 chr16 2134536 2134536 1 + G A UCEC 2134530 + 2134510 2134550 41 CTGGTCGGCCTCGGGCGAAGACAGTCGGGGCCAGCCCGAGG CTGGTCGGCCTCGGGCGAAGACAGTCAGGGCCAGCCCGAGG < 41bp 1 0.689019268444048 1 0.951161742210388 experiment 0.621961463111903 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 27 TSC2 ENSG00000103197 CDS Human protein_coding chr16:2134530 chr16:2134536 nonsynonymous SNV 0.204 1 hm6A_associated_SNPs_71662 1 not provided Tuberous sclerosis syndrome RCV000043391.2
3017 chr21 47552341 47552341 1 + G A UCEC 47552348 + 47552328 47552368 41 GGCCTTGGGCAGCGACGTGGACATGGACGTGCTCACCACGC GGCCTTGGGCAGCAACGTGGACATGGACGTGCTCACCACGC < 41bp 1 0.761547211218059 1 0.999256134033203 experiment 0.476905577563883 Functional Loss 31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 14 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552348 chr21:47552341 nonsynonymous SNV 0.551 4 hm6A_associated_SNPs_71711 1 Uncertain significance not specified RCV000353251.1
3018 chr4 55594061 55594061 1 + C T UCEC 55594069 + 55594049 55594089 41 TTAAGTCAGATGCGGCCATGACTGTCGCTGTAAAGATGCTC TTAAGTCAGATGTGGCCATGACTGTCGCTGTAAAGATGCTC < 41bp 1 0.153870678511887 1 0.924675762653351 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 13 KIT ENSG00000157404 CDS Human protein_coding chr4:55594069 chr4:55594061 nonsynonymous SNV 0.018 4 hm6A_associated_SNPs_71779 1 Uncertain significance Gastrointestinal stromal tumor RCV000473035.1
3019 chr7 65557009 65557009 1 + T C UCEC 65557006 + 65556986 65557026 41 CCCCCAGATTCACCAAGAGAACATGGGACAGGCTCTCAGCC CCCCCAGATTCACCAAGAGAACACGGGACAGGCTCTCAGCC < 41bp 1 0.380592667559358 1 0.0233983993530273 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 24 ASL ENSG00000126522;ENSG00000249319 CDS Human other chr7:65557006 chr7:65557009 nonsynonymous SNV 0.993 4 hm6A_associated_SNPs_71933 1 Pathogenic Argininosuccinate lyase deficiency RCV000211672.1
3020 chr7 65557009 65557009 1 + T C UCEC 65557013 + 65556993 65557033 41 ATTCACCAAGAGAACATGGGACAGGCTCTCAGCCCCGACAT ATTCACCAAGAGAACACGGGACAGGCTCTCAGCCCCGACAT < 41bp 1 0.400297169953201 1 0.0486814677715302 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 17 ASL ENSG00000126522;ENSG00000249319 CDS Human other chr7:65557013 chr7:65557009 nonsynonymous SNV 0.993 4 hm6A_associated_SNPs_71934 1 Pathogenic Argininosuccinate lyase deficiency RCV000211672.1
3021 chr5 131953874 131953874 1 + C T UCEC 131953870 + 131953850 131953890 41 ATTATTCATTTTAAGAAAGAACTTCGAGAACCACAATTTCG ATTATTCATTTTAAGAAAGAACTTTGAGAACCACAATTTCG < 41bp 1 0.513020506773592 1 0.792926728725433 experiment 0.973958986452816 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;Control 25 RAD50 ENSG00000113522 CDS Human protein_coding chr5:131953870 chr5:131953874 stopgain 1.000 1 hm6A_associated_SNPs_71956 1 Pathogenic Nijmegen breakage syndrome-like disorder RCV000006230.2
3022 chr17 29652947 29652947 1 + G A UCEC 29652933 + 29652913 29652953 41 GCCATATGAAATTGTAGTGGACCTTACCCATACCGGGCCTA GCCATATGAAATTGTAGTGGACCTTACCCATACCAGGCCTA < 41bp 1 0.65948305234149 1 0.941340327262878 experiment 0.681033895317021 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 35 NF1 ENSG00000196712 CDS Human protein_coding chr17:29652933 chr17:29652947 nonsynonymous SNV 0.996 3 hm6A_associated_SNPs_71992 1 Uncertain significance Neurofibromatosis, type 1 RCV000464668.1
3023 chr15 67477127 67477127 1 + G A UCEC 67477122 + 67477102 67477142 41 CTTCGCAGAGTGCCTCAGTGACAGCGCTATTTTTGTCCAGT CTTCGCAGAGTGCCTCAGTGACAGCACTATTTTTGTCCAGT < 41bp 1 0.367239077399026 1 0.0478923618793488 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 26 SMAD3 ENSG00000166949 CDS Human protein_coding chr15:67477122 chr15:67477127 nonsynonymous SNV 0.947 4 hm6A_associated_SNPs_72004 1 Uncertain significance not specified RCV000198381.2
3024 chr3 49569251 49569251 1 + C T UCEC 49569243 + 49569223 49569263 41 CCACGAGTATCCACACCAAAACCAGCAACGCCTTCAACTGA CCACGAGTATCCACACCAAAACCAGCAATGCCTTCAACTGA < 41bp 1 0.751062084733464 1 0.999783337116241 experiment 0.497875830533072 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 29 DAG1 ENSG00000173402 CDS Human protein_coding chr3:49569243 chr3:49569251 nonsynonymous SNV 0.997 3 hm6A_associated_SNPs_72042 1 Uncertain significance not specified RCV000373932.1
3025 chr19 11152044 11152044 1 + G A UCEC 11152059 + 11152039 11152079 41 ATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA ATCACAGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA < 41bp 1 0.619237039414192 1 0.998563468456268 experiment 0.761525921171617 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152059 chr19:11152044 nonsynonymous SNV 0.922 4 hm6A_associated_SNPs_72168 3 Uncertain significance Coffin-Siris syndrome RCV000355759.1
3026 chr19 11152044 11152044 1 + G A UCEC 11152059 + 11152039 11152079 41 ATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA ATCACAGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA < 41bp 1 0.619237039414192 1 0.998563468456268 experiment 0.761525921171617 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152059 chr19:11152044 nonsynonymous SNV 0.922 4 hm6A_associated_SNPs_72168 3 Uncertain significance Obesity RCV000415015.1
3027 chr19 11152044 11152044 1 + G A UCEC 11152059 + 11152039 11152079 41 ATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA ATCACAGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCA < 41bp 1 0.619237039414192 1 0.998563468456268 experiment 0.761525921171617 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 6 SMARCA4 ENSG00000127616 CDS Human protein_coding chr19:11152059 chr19:11152044 nonsynonymous SNV 0.922 4 hm6A_associated_SNPs_72168 3 Uncertain significance intellectual deficiency RCV000415015.1
3028 chr16 30081257 30081257 1 + C T UCEC 30081246 + 30081226 30081266 41 TGCTGAAGCCCTGGGCCCTGACCTTCTCCTACGGCCGAGCC TGCTGAAGCCCTGGGCCCTGACCTTCTCCTATGGCCGAGCC < 41bp 1 0.464671298584322 1 0.941096901893616 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 32 ALDOA ENSG00000149925 CDS Human protein_coding chr16:30081246 chr16:30081257 synonymous SNV . 0 hm6A_associated_SNPs_72276 1 Uncertain significance HNSHA due to aldolase A deficiency RCV000347885.1
3029 chr1 156105881 156105881 1 + T C UCEC 156105864 + 156105844 156105884 41 GGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCTACC GGACATCAAGCTGGCCCTGGACATGGAGATCCACGCCCACC < 41bp 1 0.6146091460931 1 0.99690854549408 experiment 0.770781707813799 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 38 LMNA ENSG00000160789 CDS Human protein_coding chr1:156105864 chr1:156105881 nonsynonymous SNV 0.994 5 hm6A_associated_SNPs_72675 1 Likely pathogenic not provided RCV000493512.1
3030 chr17 68172064 68172064 1 + T C UCEC 68172052 + 68172032 68172072 41 ACAGGACATTGACAACGCAGACTTTGAAATCGTGGTCATAC ACAGGACATTGACAACGCAGACTTTGAAATCGCGGTCATAC < 41bp 1 0.765032569950568 1 0.998694181442261 experiment 0.469934860098863 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 33 KCNJ2 ENSG00000123700 CDS Human protein_coding chr17:68172052 chr17:68172064 nonsynonymous SNV 0.992 5 hm6A_associated_SNPs_72735 1 Uncertain significance not provided RCV000171667.1
3031 chr11 67378977 67378977 1 + C T UCEC 67378973 + 67378953 67378993 41 GTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGG GTGTGAGACGGTGCTGATGGACTTTGATGCGCTGGTGCAGG < 41bp 1 0.608347047995385 1 0.990276396274567 experiment 0.78330590400923 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 25 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378973 chr11:67378977 synonymous SNV . 0 hm6A_associated_SNPs_73048 2 Uncertain significance Leigh syndrome RCV000267146.1
3032 chr11 67378977 67378977 1 + C T UCEC 67378973 + 67378953 67378993 41 GTGTGAGACGGTGCTGATGGACTTCGATGCGCTGGTGCAGG GTGTGAGACGGTGCTGATGGACTTTGATGCGCTGGTGCAGG < 41bp 1 0.608347047995385 1 0.990276396274567 experiment 0.78330590400923 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 25 NDUFV1 ENSG00000167792 CDS Human protein_coding chr11:67378973 chr11:67378977 synonymous SNV . 0 hm6A_associated_SNPs_73048 2 Uncertain significance Mitochondrial complex I deficiency RCV000354895.1
3033 chr1 150461542 150461542 1 + C T UCEC 150461523 + 150461503 150461543 41 GCCCTTGGAGACAGATTCTGACCTCAGATTTCTGACATTCG GCCCTTGGAGACAGATTCTGACCTCAGATTTCTGACATTTG < 41bp 1 0.14604482269138 1 0.839710533618927 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 40 TARS2 ENSG00000143374 CDS Human protein_coding chr1:150461523 chr1:150461542 synonymous SNV . 0 hm6A_associated_SNPs_73263 1 Likely benign not specified RCV000428852.1
3034 chr2 47637374 47637374 1 + C T UCEC 47637382 + 47637362 47637402 41 GTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCC GTGGATTCCATATAGAGGAAACTAGGACTGTGTGAATTCCC < 41bp 1 0.377993767646545 1 0.856788635253906 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 13 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637382 chr2:47637374 stopgain 0.998 1 hm6A_associated_SNPs_73294 3 Pathogenic Lynch syndrome RCV000076621.2
3035 chr2 47637374 47637374 1 + C T UCEC 47637382 + 47637362 47637402 41 GTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCC GTGGATTCCATATAGAGGAAACTAGGACTGTGTGAATTCCC < 41bp 1 0.377993767646545 1 0.856788635253906 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 13 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637382 chr2:47637374 stopgain 0.998 1 hm6A_associated_SNPs_73294 3 Pathogenic not provided RCV000236121.2
3036 chr2 47637374 47637374 1 + C T UCEC 47637382 + 47637362 47637402 41 GTGGATTCCATACAGAGGAAACTAGGACTGTGTGAATTCCC GTGGATTCCATATAGAGGAAACTAGGACTGTGTGAATTCCC < 41bp 1 0.377993767646545 1 0.856788635253906 experiment 1 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 13 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637382 chr2:47637374 stopgain 0.998 1 hm6A_associated_SNPs_73294 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000491287.1
3037 chr2 47637374 47637374 1 + C T UCEC 47637388 + 47637368 47637408 41 TCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA TCCATATAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA < 41bp 1 0.67506226188599 1 0.951906442642212 experiment 0.64987547622802 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 7 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637388 chr2:47637374 stopgain 0.998 1 hm6A_associated_SNPs_73295 3 Pathogenic Lynch syndrome RCV000076621.2
3038 chr2 47637374 47637374 1 + C T UCEC 47637388 + 47637368 47637408 41 TCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA TCCATATAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA < 41bp 1 0.67506226188599 1 0.951906442642212 experiment 0.64987547622802 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 7 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637388 chr2:47637374 stopgain 0.998 1 hm6A_associated_SNPs_73295 3 Pathogenic not provided RCV000236121.2
3039 chr2 47637374 47637374 1 + C T UCEC 47637388 + 47637368 47637408 41 TCCATACAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA TCCATATAGAGGAAACTAGGACTGTGTGAATTCCCTGATAA < 41bp 1 0.67506226188599 1 0.951906442642212 experiment 0.64987547622802 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|24981863;GSE54365;m6A-seq with improved protocol;A549;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 7 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637388 chr2:47637374 stopgain 0.998 1 hm6A_associated_SNPs_73295 3 Pathogenic Hereditary cancer-predisposing syndrome RCV000491287.1
3040 chr6 24528285 24528285 1 + C T UCEC 24528273 + 24528253 24528293 41 CTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAA CTAAAGGTGCCACCGTTGTGACAGGTGGAAAATGACACCAA < 41bp 1 0.536950643950988 1 0.870064258575439 experiment 0.926098712098024 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 33 ALDH5A1 ENSG00000112294 CDS Human protein_coding chr6:24528273 chr6:24528285 stopgain 0.981 1 hm6A_associated_SNPs_73306 1 Pathogenic Succinate-semialdehyde dehydrogenase deficiency RCV000001423.2
3041 chr19 1221294 1221294 1 + G A UCEC 1221274 + 1221254 1221294 41 CATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACG CATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACA < 41bp 1 0.77950527463091 1 0.97248363494873 experiment 0.440989450738179 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 41 STK11 ENSG00000118046 CDS Human protein_coding chr19:1221274 chr19:1221294 nonsynonymous SNV 0.100 0 hm6A_associated_SNPs_73481 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000130859.3
3042 chr19 1221294 1221294 1 + G A UCEC 1221274 + 1221254 1221294 41 CATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACG CATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACA < 41bp 1 0.77950527463091 1 0.97248363494873 experiment 0.440989450738179 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 41 STK11 ENSG00000118046 CDS Human protein_coding chr19:1221274 chr19:1221294 nonsynonymous SNV 0.100 0 hm6A_associated_SNPs_73481 3 Uncertain significance Peutz-Jeghers syndrome RCV000196939.1
3043 chr19 1221294 1221294 1 + G A UCEC 1221274 + 1221254 1221294 41 CATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACG CATCTACAAGTTGTTTGAGAACATCGGGAAGGGGAGCTACA < 41bp 1 0.77950527463091 1 0.97248363494873 experiment 0.440989450738179 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 41 STK11 ENSG00000118046 CDS Human protein_coding chr19:1221274 chr19:1221294 nonsynonymous SNV 0.100 0 hm6A_associated_SNPs_73481 3 Uncertain significance not specified RCV000479961.1
3044 chr6 7584150 7584150 1 + G A UCEC 7584147 + 7584127 7584167 41 AAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGAT AAGGAATCAGACAACCTGTGACCATCACTGAGCTAGTAGAT < 41bp 1 0.779477625608492 1 0.980912506580353 experiment 0.441044748783016 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 24 DSP ENSG00000096696 CDS Human protein_coding chr6:7584147 chr6:7584150 nonsynonymous SNV 0.986 1 hm6A_associated_SNPs_73564 1 other not specified RCV000038076.3
3045 chr19 1223034 1223034 1 + C T UCEC 1223043 + 1223023 1223063 41 GCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCA GCCCATCCCACTGAGCCCAGACACCAAGGACCGGTGGCGCA < 41bp 1 0.743446305948263 1 0.998404860496521 experiment 0.513107388103474 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223043 chr19:1223034 nonsynonymous SNV 0.007 3 hm6A_associated_SNPs_73604 2 other Peutz-Jeghers syndrome RCV000123070.3
3046 chr19 1223034 1223034 1 + C T UCEC 1223043 + 1223023 1223063 41 GCCCATCCCACCGAGCCCAGACACCAAGGACCGGTGGCGCA GCCCATCCCACTGAGCCCAGACACCAAGGACCGGTGGCGCA < 41bp 1 0.743446305948263 1 0.998404860496521 experiment 0.513107388103474 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 12 STK11 ENSG00000118046 CDS Human protein_coding chr19:1223043 chr19:1223034 nonsynonymous SNV 0.007 3 hm6A_associated_SNPs_73604 2 Uncertain significance Hereditary cancer-predisposing syndrome RCV000163389.1
3047 chrX 48759573 48759573 1 + G A UCEC 48759561 + 48759541 48759581 41 CAAGTCGGACAGGGGCCATGACAAGTCGGACCGCAGCCATG CAAGTCGGACAGGGGCCATGACAAGTCGGACCACAGCCATG < 41bp 1 0.684163138087209 1 0.989420771598816 experiment 0.631673723825582 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|31281898;GSE125240;m6A-REF-seq;liver;Control 33 PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759561 chrX:48759573 nonsynonymous SNV 0.142 2 hm6A_associated_SNPs_73684 1 Likely benign not specified RCV000422167.1
3048 chrX 48759573 48759573 1 + G A UCEC 48759591 + 48759571 48759611 41 CCGCAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAG CCACAGCCATGAGAAACTAGACAGGGGCCACGACAAGTCAG < 41bp 1 0.559386227636558 1 0.958913803100586 experiment 0.881227544726884 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 3 PQBP1 ENSG00000102103 CDS Human protein_coding chrX:48759591 chrX:48759573 nonsynonymous SNV 0.142 2 hm6A_associated_SNPs_73685 1 Likely benign not specified RCV000422167.1
3049 chr5 112179525 112179525 1 + C T UCEC 112179508 + 112179488 112179528 41 CAAAAAGGAACTGAGATAAAACCAGGACAAAATAATCCTGT CAAAAAGGAACTGAGATAAAACCAGGACAAAATAATCTTGT < 41bp 1 0.579516068768746 1 0.986001014709473 experiment 0.840967862462507 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|26404942;GSE71154;m6A-CLIP-seq;A549;Control 38 APC ENSG00000134982 CDS Human protein_coding chr5:112179508 chr5:112179525 nonsynonymous SNV 0.431 1 hm6A_associated_SNPs_73740 1 Uncertain significance not specified RCV000484513.1
3050 chr10 89653806 89653806 1 + T C UCEC 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ACGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA < 41bp 1 0.420818991324915 1 0.943207025527954 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 2 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653806 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_73851 1 Likely pathogenic Hereditary cancer-predisposing syndrome RCV000491217.1
3051 chr6 7565703 7565703 1 + G A UCEC 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACAACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.434363949104634 1 0.98446136713028 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565703 nonsynonymous SNV 0.995 5 hm6A_associated_SNPs_74169 7 Uncertain significance not specified RCV000038117.2
3052 chr6 7565703 7565703 1 + G A UCEC 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACAACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.434363949104634 1 0.98446136713028 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565703 nonsynonymous SNV 0.995 5 hm6A_associated_SNPs_74169 7 Likely benign Ectodermal dysplasia skin fragility syndrome RCV000280895.1
3053 chr6 7565703 7565703 1 + G A UCEC 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACAACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.434363949104634 1 0.98446136713028 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565703 nonsynonymous SNV 0.995 5 hm6A_associated_SNPs_74169 7 Likely benign Cardiomyopathy, ARVC RCV000337806.1
3054 chr6 7565703 7565703 1 + G A UCEC 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACAACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.434363949104634 1 0.98446136713028 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565703 nonsynonymous SNV 0.995 5 hm6A_associated_SNPs_74169 7 Likely benign Skin fragility woolly hair syndrome RCV000371415.1
3055 chr6 7565703 7565703 1 + G A UCEC 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACAACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.434363949104634 1 0.98446136713028 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565703 nonsynonymous SNV 0.995 5 hm6A_associated_SNPs_74169 7 Likely benign Epidermolysis bullosa, lethal acantholytic RCV000377642.1
3056 chr6 7565703 7565703 1 + G A UCEC 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACAACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.434363949104634 1 0.98446136713028 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565703 nonsynonymous SNV 0.995 5 hm6A_associated_SNPs_74169 7 Uncertain significance Arrhythmogenic right ventricular cardiomyopathy, type 8 RCV000467769.1
3057 chr6 7565703 7565703 1 + G A UCEC 7565719 + 7565699 7565739 41 GTACGACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC GTACAACTGGAGCGACAAGAACACCAACATCGCTCAGAAAC < 41bp 1 0.434363949104634 1 0.98446136713028 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 DSP ENSG00000096696 CDS Human protein_coding chr6:7565719 chr6:7565703 nonsynonymous SNV 0.995 5 hm6A_associated_SNPs_74169 7 Uncertain significance Cardiomyopathy dilated with woolly hair and keratoderma RCV000467769.1
3058 chr15 93552444 93552444 1 + G A UCEC 93552430 + 93552410 93552450 41 GAAACAGCTCGACAAACCTGACAAGGGGCTCAACGTGCAAG GAAACAGCTCGACAAACCTGACAAGGGGCTCAACATGCAAG < 41bp 1 0.539321408980772 1 0.866039156913757 experiment 0.921357182038457 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 35 CHD2 ENSG00000173575 CDS Human protein_coding chr15:93552430 chr15:93552444 nonsynonymous SNV 0.852 3 hm6A_associated_SNPs_74199 1 Uncertain significance Epileptic encephalopathy, childhood-onset RCV000462605.1
3059 chr10 102748919 102748919 1 + G A UCEC 102748899 + 102748879 102748919 41 TGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCG TGTATTCTGGTTGGGGGATGACCTTCGGTCCTGGGAAGCCA < 41bp 1 0.512358518247323 1 0.996722757816315 experiment 0.975282963505353 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 41 TWNK ENSG00000107815 CDS Human protein_coding chr10:102748899 chr10:102748919 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_74228 1 Pathogenic Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) RCV000020866.5
3060 chr10 102748919 102748919 1 + G A UCEC 102748939 + 102748919 102748959 41 GCCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTT ACCAAGTTGTTTGCACGAAAACTGAACCCCAAACGATGCTT < 41bp 1 0.664629207218752 1 0.996967971324921 experiment 0.670741585562496 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 1 TWNK ENSG00000107815 CDS Human protein_coding chr10:102748939 chr10:102748919 nonsynonymous SNV 0.999 4 hm6A_associated_SNPs_74229 1 Pathogenic Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) RCV000020866.5
3061 chr1 12064140 12064140 1 + C T UCEC 12064129 + 12064109 12064149 41 GCTGGAGCTCTTGGCTCAAGACTATAAGCTGCGAATTAAGC GCTGGAGCTCTTGGCTCAAGACTATAAGCTGTGAATTAAGC < 41bp 1 0.425574119025399 1 0.958460927009583 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 32 MFN2 ENSG00000116688 CDS Human protein_coding chr1:12064129 chr1:12064140 stopgain 0.863 1 hm6A_associated_SNPs_74553 1 Likely pathogenic not provided RCV000413487.1
3062 chr8 1719507 1719507 1 + C T UCEC 1719522 + 1719502 1719542 41 CAAGGCGCGTGGCCAGCAGAACTGGTGCTGGTTTCACATCA CAAGGTGCGTGGCCAGCAGAACTGGTGCTGGTTTCACATCA < 41bp 1 0.74026643518661 1 0.969533681869507 experiment 0.519467129626781 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 6 CLN8 ENSG00000182372 CDS Human protein_coding chr8:1719522 chr8:1719507 nonsynonymous SNV 0.064 1 hm6A_associated_SNPs_74603 1 Uncertain significance not specified RCV000427663.1
3063 chr1 156105746 156105746 1 + C T UCEC 156105729 + 156105709 156105749 41 GAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGCGGG GAAGCTTCGAGACCTGGAGGACTCACTGGCCCGTGAGTGGG < 41bp 1 0.215017005606311 1 0.987815320491791 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 38 LMNA ENSG00000160789 CDS Human protein_coding chr1:156105729 chr1:156105746 nonsynonymous SNV 0.998 5 hm6A_associated_SNPs_74643 1 Uncertain significance not specified RCV000236116.2
3064 chr1 156105746 156105746 1 + C T UCEC 156105750 + 156105730 156105770 41 CTCACTGGCCCGTGAGCGGGACACCAGCCGGCGGCTGCTGG CTCACTGGCCCGTGAGTGGGACACCAGCCGGCGGCTGCTGG < 41bp 1 0.543320229299063 1 0.987543344497681 experiment 0.913359541401874 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 17 LMNA ENSG00000160789 CDS Human protein_coding chr1:156105750 chr1:156105746 nonsynonymous SNV 0.998 5 hm6A_associated_SNPs_74644 1 Uncertain significance not specified RCV000236116.2
3065 chr5 176696730 176696730 1 + C T UCEC 176696718 + 176696698 176696738 41 GATCTAATGACTATTTGTGGACTCACCAGGCCCGAGTCTTC GATCTAATGACTATTTGTGGACTCACCAGGCCTGAGTCTTC < 41bp 1 0.373229807863209 1 0.698942184448242 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 33 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176696718 chr5:176696730 stopgain 0.982 1 hm6A_associated_SNPs_75008 1 Pathogenic Sotos syndrome 1 RCV000146875.1
3066 chr16 29809965 29809965 1 + G A UCEC 29809977 + 29809957 29809997 41 GATCCCGCGGGCTCTCATGGACCTCCTGCAGCTCACAAGGG GATCCCGCAGGCTCTCATGGACCTCCTGCAGCTCACAAGGG < 41bp 1 0.329274693846106 1 0.0503116548061371 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 KIF22 ENSG00000079616 CDS Human protein_coding chr16:29809977 chr16:29809965 nonsynonymous SNV 0.951 3 hm6A_associated_SNPs_75014 2 Pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations RCV000023270.2
3067 chr16 29809965 29809965 1 + G A UCEC 29809977 + 29809957 29809997 41 GATCCCGCGGGCTCTCATGGACCTCCTGCAGCTCACAAGGG GATCCCGCAGGCTCTCATGGACCTCCTGCAGCTCACAAGGG < 41bp 1 0.329274693846106 1 0.0503116548061371 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 KIF22 ENSG00000079616 CDS Human protein_coding chr16:29809977 chr16:29809965 nonsynonymous SNV 0.951 3 hm6A_associated_SNPs_75014 2 Pathogenic not provided RCV000479053.1
3068 chr2 44547693 44547693 1 + G A UCEC 44547698 + 44547678 44547718 41 AGAATCTCCTTCATCGCCAAACAGCTTTCAGAGATAGATGC AGAATCTCCTTCATCACCAAACAGCTTTCAGAGATAGATGC < 41bp 1 0.380692769290968 1 0.931744873523712 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control|26593424;GSE73405;miCLIP;HepG2;Control 16 SLC3A1 ENSG00000138079 CDS Human protein_coding chr2:44547698 chr2:44547693 nonsynonymous SNV 0.807 1 hm6A_associated_SNPs_75261 1 Uncertain significance Cystinuria RCV000316994.1
3069 chr16 57693319 57693319 1 + G A UCEC 57693331 + 57693311 57693351 41 CCCCTGCCGTGCAGGAGGAAACCTCGGGACTACACCATCAA CCCCTGCCATGCAGGAGGAAACCTCGGGACTACACCATCAA < 41bp 1 0.0943892608799549 1 0.202207177877426 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 9 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57693331 chr16:57693319 synonymous SNV . 0 hm6A_associated_SNPs_75387 1 Uncertain significance not provided RCV000487789.1
3070 chr16 57693319 57693319 1 + G A UCEC 57693339 + 57693319 57693359 41 GTGCAGGAGGAAACCTCGGGACTACACCATCAAGGTGCACA ATGCAGGAGGAAACCTCGGGACTACACCATCAAGGTGCACA < 41bp 1 0.217965755862012 1 0.313360065221786 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 ADGRG1 ENSG00000205336 CDS Human protein_coding chr16:57693339 chr16:57693319 synonymous SNV . 0 hm6A_associated_SNPs_75388 1 Uncertain significance not provided RCV000487789.1
3071 chr9 140002059 140002059 1 + G A UCEC 140002056 + 140002036 140002076 41 CCTGTACCGCGTCACAGGGGACCGCAAATACCAGGACTGGG CCTGTACCGCGTCACAGGGGACCACAAATACCAGGACTGGG < 41bp 1 0.408344288275137 1 0.971142411231995 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 24 MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:140002056 chr9:140002059 nonsynonymous SNV 0.793 1 hm6A_associated_SNPs_75608 1 Uncertain significance not provided RCV000117583.1
3072 chr16 89592797 89592797 1 + C T UCEC 89592777 + 89592757 89592797 41 AATGCAGGTTGCAAATATTGACAAGTTTGAAGAGAAGCTTC AATGCAGGTTGCAAATATTGACAAGTTTGAAGAGAAGCTTT < 41bp 1 0.7834320894726 1 0.943102359771729 experiment 0.4331358210548 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 41 SPG7 ENSG00000197912 CDS Human protein_coding chr16:89592777 chr16:89592797 stopgain 0.998 1 hm6A_associated_SNPs_75724 1 Pathogenic not provided RCV000276524.1
3073 chr15 40280238 40280238 1 + C T UCEC 40280242 + 40280222 40280262 41 TGACCAGGGACTGTATCGAGACACCGTCAGACTCTGGAGGC TGACCAGGGACTGTATTGAGACACCGTCAGACTCTGGAGGC < 41bp 1 0.795989876966726 1 0.647232234477997 experiment 0.408020246066548 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 17 EIF2AK4 ENSG00000128829 CDS Human protein_coding chr15:40280242 chr15:40280238 stopgain 0.390 0 hm6A_associated_SNPs_75825 1 Pathogenic Familial pulmonary capillary hemangiomatosis RCV000488486.1
3074 chr20 57478633 57478633 1 + C T UCEC 57478618 + 57478598 57478638 41 CAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGCGATTG CAAAGTGCAGGACATCAAAAACAACCTGAAAGAGGTGATTG < 41bp 1 0.366417453878473 1 0.73082971572876 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 36 GNAS ENSG00000087460 CDS Human protein_coding chr20:57478618 chr20:57478633 nonsynonymous SNV 0.644 4 hm6A_associated_SNPs_75853 1 Likely pathogenic not provided RCV000493137.1
3075 chr22 41320442 41320442 1 + G A UCEC 41320424 + 41320404 41320444 41 CCTCGGGATGGATGTCCATGACACTCCAGACATGCCCCGTT CCTCGGGATGGATGTCCATGACACTCCAGACATGCCCCATT < 41bp 1 0.483923858703535 1 0.00363102555274963 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control 39 XPNPEP3 ENSG00000196236 CDS Human protein_coding chr22:41320424 chr22:41320442 nonsynonymous SNV 0.976 4 hm6A_associated_SNPs_76088 1 Uncertain significance Nephronophthisis-Like Nephropathy RCV000315316.1
3076 chr21 47801663 47801663 1 + C T UCEC 47801657 + 47801637 47801677 41 CTTTGCATGAAAAAGAGGAGACACTTCGGCTTCAGAGTGCA CTTTGCATGAAAAAGAGGAGACACTTTGGCTTCAGAGTGCA < 41bp 1 0.360756604482346 1 0.956485211849213 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 27 PCNT ENSG00000160299 CDS Human protein_coding chr21:47801657 chr21:47801663 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_76200 1 Uncertain significance Microcephalic osteodysplastic primordial dwarfism type 2 RCV000147107.1
3077 chr22 21241990 21241990 1 + C T UCEC 21241983 + 21241963 21242003 41 GCAGATGAGCTGTCCATGGGACTGGGTCGTCTGAAGGACAT GCAGATGAGCTGTCCATGGGACTGGGTTGTCTGAAGGACAT < 41bp 1 0.799886563588178 1 0.948966324329376 experiment 0.400226872823643 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 28 SNAP29 ENSG00000099940 CDS Human protein_coding chr22:21241983 chr22:21241990 nonsynonymous SNV 0.985 4 hm6A_associated_SNPs_76699 1 Uncertain significance Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome RCV000314485.1
3078 chr3 58154222 58154222 1 + C T UCEC 58154214 + 58154194 58154234 41 CCACCCGAGCAGGTCCAGGGACATTATCCGTCACCATCGAA CCACCCGAGCAGGTCCAGGGACATTATCTGTCACCATCGAA < 41bp 1 0.64492775660626 1 0.921433687210083 experiment 0.710144486787481 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 29 FLNB ENSG00000136068 CDS Human protein_coding chr3:58154214 chr3:58154222 synonymous SNV . 0 hm6A_associated_SNPs_76734 2 Uncertain significance not specified RCV000178549.1
3079 chr3 58154222 58154222 1 + C T UCEC 58154214 + 58154194 58154234 41 CCACCCGAGCAGGTCCAGGGACATTATCCGTCACCATCGAA CCACCCGAGCAGGTCCAGGGACATTATCTGTCACCATCGAA < 41bp 1 0.64492775660626 1 0.921433687210083 experiment 0.710144486787481 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 29 FLNB ENSG00000136068 CDS Human protein_coding chr3:58154214 chr3:58154222 synonymous SNV . 0 hm6A_associated_SNPs_76734 2 Uncertain significance FLNB-Related Spectrum Disorders RCV000350016.1
3080 chr18 72997737 72997737 1 + C T UCEC 72997727 + 72997707 72997747 41 GATCAAAGCTGTGTATGCAAACTTGTTCTCCGAGTCCTGCT GATCAAAGCTGTGTATGCAAACTTGTTCTCTGAGTCCTGCT < 41bp 1 0.673058290503484 1 0.999580860137939 experiment 0.653883418993032 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 31 TSHZ1 ENSG00000179981 CDS Human protein_coding chr18:72997727 chr18:72997737 synonymous SNV . 0 hm6A_associated_SNPs_76907 1 Likely benign Aural atresia, congenital RCV000276137.1
3081 chr5 236650 236650 1 + G A UCEC 236646 + 236626 236666 41 TGCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTG TGCCAACCGCCTCGGGGCAAACTCACTCTTGGACCTGGTTG < 41bp 1 0.369889557122999 1 0.121384531259537 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 SDHA ENSG00000073578 CDS Human protein_coding chr5:236646 chr5:236650 synonymous SNV . 0 hm6A_associated_SNPs_77145 3 Likely benign Mitochondrial complex II deficiency RCV000210523.2
3082 chr5 236650 236650 1 + G A UCEC 236646 + 236626 236666 41 TGCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTG TGCCAACCGCCTCGGGGCAAACTCACTCTTGGACCTGGTTG < 41bp 1 0.369889557122999 1 0.121384531259537 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 SDHA ENSG00000073578 CDS Human protein_coding chr5:236646 chr5:236650 synonymous SNV . 0 hm6A_associated_SNPs_77145 3 Likely benign Paragangliomas 5 RCV000210523.2
3083 chr5 236650 236650 1 + G A UCEC 236646 + 236626 236666 41 TGCCAACCGCCTCGGGGCAAACTCGCTCTTGGACCTGGTTG TGCCAACCGCCTCGGGGCAAACTCACTCTTGGACCTGGTTG < 41bp 1 0.369889557122999 1 0.121384531259537 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 SDHA ENSG00000073578 CDS Human protein_coding chr5:236646 chr5:236650 synonymous SNV . 0 hm6A_associated_SNPs_77145 3 Likely benign not specified RCV000247565.2
3084 chr5 236650 236650 1 + G A UCEC 236658 + 236638 236678 41 CGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG CGGGGCAAACTCACTCTTGGACCTGGTTGTCTTTGGTCGGG < 41bp 1 0.375324473468509 1 0.278425395488739 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 SDHA ENSG00000073578 CDS Human protein_coding chr5:236658 chr5:236650 synonymous SNV . 0 hm6A_associated_SNPs_77146 3 Likely benign Mitochondrial complex II deficiency RCV000210523.2
3085 chr5 236650 236650 1 + G A UCEC 236658 + 236638 236678 41 CGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG CGGGGCAAACTCACTCTTGGACCTGGTTGTCTTTGGTCGGG < 41bp 1 0.375324473468509 1 0.278425395488739 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 SDHA ENSG00000073578 CDS Human protein_coding chr5:236658 chr5:236650 synonymous SNV . 0 hm6A_associated_SNPs_77146 3 Likely benign Paragangliomas 5 RCV000210523.2
3086 chr5 236650 236650 1 + G A UCEC 236658 + 236638 236678 41 CGGGGCAAACTCGCTCTTGGACCTGGTTGTCTTTGGTCGGG CGGGGCAAACTCACTCTTGGACCTGGTTGTCTTTGGTCGGG < 41bp 1 0.375324473468509 1 0.278425395488739 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 13 SDHA ENSG00000073578 CDS Human protein_coding chr5:236658 chr5:236650 synonymous SNV . 0 hm6A_associated_SNPs_77146 3 Likely benign not specified RCV000247565.2
3087 chr16 14014127 14014127 1 + C T UCEC 14014147 + 14014127 14014167 41 CGCCCGCGGGCTCGGCGCGGACCGGCTCCTCTACCACTTTC TGCCCGCGGGCTCGGCGCGGACCGGCTCCTCTACCACTTTC < 41bp 1 0.12335916428616 1 0.983653545379639 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 1 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14014147 chr16:14014127 synonymous SNV . 0 hm6A_associated_SNPs_77458 1 Uncertain significance Xeroderma pigmentosum RCV000285190.1
3088 chr13 49027171 49027171 1 + G T UCEC 49027155 + 49027135 49027175 41 CCTTTATTTGATCTTATTAAACAATCAAAGGACCGAGAAGG CCTTTATTTGATCTTATTAAACAATCAAAGGACCGATAAGG < 41bp 1 0.610544562310231 1 0.456427097320557 experiment 0.778910875379538 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control 37 RB1 ENSG00000139687 CDS Human protein_coding chr13:49027155 chr13:49027171 stopgain 0.995 1 hm6A_associated_SNPs_77573 1 Pathogenic Retinoblastoma RCV000114678.1
3089 chr11 35685122 35685122 1 + G A UCEC 35685128 + 35685108 35685148 41 AATCCGAGGCGGAGGGAGAAACTGAGGCAGAAAGTGAATTT AATCCGAGGCGGAGAGAGAAACTGAGGCAGAAAGTGAATTT < 41bp 1 0.68310370920202 1 0.998862862586975 experiment 0.63379258159596 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 15 TRIM44 ENSG00000166326 CDS Human protein_coding chr11:35685128 chr11:35685122 nonsynonymous SNV 0.924 3 hm6A_associated_SNPs_77772 1 Pathogenic Aniridia 3 RCV000254593.1
3090 chr17 29667646 29667646 1 + C T UCEC 29667659 + 29667639 29667679 41 TAGTCTCCGTATATTCAATGACAAGGTAAGCAAACTTTGCC TAGTCTCTGTATATTCAATGACAAGGTAAGCAAACTTTGCC < 41bp 1 0.376312588134453 1 0.00053367018699646 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 8 NF1 ENSG00000196712 CDS Human protein_coding chr17:29667659 chr17:29667646 nonsynonymous SNV 0.999 2 hm6A_associated_SNPs_77982 1 Uncertain significance Neurofibromatosis, type 1 RCV000469056.1
3091 chr19 11224281 11224281 1 + G A UCEC 11224267 + 11224247 11224287 41 TGACACCGTCATCAGCAGAGACATCCAGGCCCCCGACGGGC TGACACCGTCATCAGCAGAGACATCCAGGCCCCCAACGGGC < 41bp 1 0.538482368576816 1 0.997419416904449 experiment 0.923035262846369 Functional Loss 28637692;GSE86336;m6A-CLIP-seq;HeLa;Control 35 LDLR ENSG00000130164 CDS Human protein_coding chr19:11224267 chr19:11224281 nonsynonymous SNV 0.901 5 hm6A_associated_SNPs_78466 1 Uncertain significance Familial hypercholesterolemia RCV000237250.1
3092 chr19 11233940 11233940 1 + G A UCEC 11233921 + 11233901 11233941 41 TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGA TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCAA < 41bp 1 0.401480287186835 1 0.283287525177002 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 LDLR ENSG00000130164 CDS Human protein_coding chr19:11233921 chr19:11233940 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_78472 2 not provided not provided RCV000058922.2
3093 chr19 11233940 11233940 1 + G A UCEC 11233921 + 11233901 11233941 41 TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCGA TCAGCTCCACAGCCGTAAGGACACAGCACACAACCACCCAA < 41bp 1 0.401480287186835 1 0.283287525177002 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 40 LDLR ENSG00000130164 CDS Human protein_coding chr19:11233921 chr19:11233940 nonsynonymous SNV 0.000 1 hm6A_associated_SNPs_78472 2 other Familial hypercholesterolemia RCV000172965.4
3094 chr6 33408564 33408564 1 + C T UCEC 33408577 + 33408557 33408597 41 CGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCA CGCAGAGTGAGGCCGGGAGGACATCGCAGACAGGCTTATCA < 41bp 1 0.386315544014776 1 0.00172677636146545 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 8 SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33408577 chr6:33408564 stopgain 1.000 1 hm6A_associated_SNPs_78724 2 Pathogenic Mental retardation, autosomal dominant 5 RCV000006765.2
3095 chr6 33408564 33408564 1 + C T UCEC 33408577 + 33408557 33408597 41 CGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCA CGCAGAGTGAGGCCGGGAGGACATCGCAGACAGGCTTATCA < 41bp 1 0.386315544014776 1 0.00172677636146545 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 8 SYNGAP1 ENSG00000197283 CDS Human protein_coding chr6:33408577 chr6:33408564 stopgain 1.000 1 hm6A_associated_SNPs_78724 2 Pathogenic not provided RCV000255371.1
3096 chr13 32914550 32914550 1 + G A UCEC 32914552 + 32914532 32914572 41 GTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAG GTATTGTTTAAAAGTAACAAACATTCAGACCAGCTCACAAG < 41bp 1 0.635532506015196 1 0.835837483406067 experiment 0.728934987969608 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914552 chr13:32914550 nonsynonymous SNV 0.198 1 hm6A_associated_SNPs_78961 4 Uncertain significance Breast-ovarian cancer, familial 2 RCV000113521.2
3097 chr13 32914550 32914550 1 + G A UCEC 32914552 + 32914532 32914572 41 GTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAG GTATTGTTTAAAAGTAACAAACATTCAGACCAGCTCACAAG < 41bp 1 0.635532506015196 1 0.835837483406067 experiment 0.728934987969608 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914552 chr13:32914550 nonsynonymous SNV 0.198 1 hm6A_associated_SNPs_78961 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000129466.3
3098 chr13 32914550 32914550 1 + G A UCEC 32914552 + 32914532 32914572 41 GTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAG GTATTGTTTAAAAGTAACAAACATTCAGACCAGCTCACAAG < 41bp 1 0.635532506015196 1 0.835837483406067 experiment 0.728934987969608 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914552 chr13:32914550 nonsynonymous SNV 0.198 1 hm6A_associated_SNPs_78961 4 Uncertain significance not specified RCV000160106.4
3099 chr13 32914550 32914550 1 + G A UCEC 32914552 + 32914532 32914572 41 GTATTGTTTAAAAGTAACGAACATTCAGACCAGCTCACAAG GTATTGTTTAAAAGTAACAAACATTCAGACCAGCTCACAAG < 41bp 1 0.635532506015196 1 0.835837483406067 experiment 0.728934987969608 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 19 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32914552 chr13:32914550 nonsynonymous SNV 0.198 1 hm6A_associated_SNPs_78961 4 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000471466.1
3100 chr13 32929256 32929256 1 + T A UCEC 32929270 + 32929250 32929290 41 ACAGTGTGTTAGGAATATTAACTTGGAGGAAAACAGACAAA ACAGTGAGTTAGGAATATTAACTTGGAGGAAAACAGACAAA < 41bp 1 0.355955469778992 1 0.955868601799011 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 7 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32929270 chr13:32929256 stopgain 0.136 0 hm6A_associated_SNPs_79264 1 Pathogenic Breast-ovarian cancer, familial 2 RCV000162058.3
3101 chr17 29653116 29653116 1 + G A UCEC 29653131 + 29653111 29653151 41 CAAAAGGCTTGTTTTCATAGACTGTCCTGGGAAACTGGCTG CAAAAAGCTTGTTTTCATAGACTGTCCTGGGAAACTGGCTG < 41bp 1 0.634321165695568 1 0.970099568367004 experiment 0.731357668608864 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 6 NF1 ENSG00000196712 CDS Human protein_coding chr17:29653131 chr17:29653116 nonsynonymous SNV 0.981 1 hm6A_associated_SNPs_79409 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000218096.1
3102 chr9 133342161 133342161 1 + G A UCEC 133342167 + 133342147 133342187 41 CCGGTTCAAGGGCCGCAATGACCTGATGGAGTACGCAAAGG CCGGTTCAAGGGCCACAATGACCTGATGGAGTACGCAAAGG < 41bp 1 0.0947049846650457 1 0.767058730125427 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133342167 chr9:133342161 nonsynonymous SNV 0.988 3 hm6A_associated_SNPs_79433 2 Pathogenic Citrullinemia type I RCV000006697.2
3103 chr9 133342161 133342161 1 + G A UCEC 133342167 + 133342147 133342187 41 CCGGTTCAAGGGCCGCAATGACCTGATGGAGTACGCAAAGG CCGGTTCAAGGGCCACAATGACCTGATGGAGTACGCAAAGG < 41bp 1 0.0947049846650457 1 0.767058730125427 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 15 ASS1 ENSG00000130707 CDS Human protein_coding chr9:133342167 chr9:133342161 nonsynonymous SNV 0.988 3 hm6A_associated_SNPs_79433 2 Uncertain significance not specified RCV000259104.1
3104 chr11 67803783 67803783 1 + G A UCEC 67803765 + 67803745 67803785 41 GAGCTGATGGCAGCCGCCGGACCACCCGCTATGACATCGAC GAGCTGATGGCAGCCGCCGGACCACCCGCTATGACATCAAC < 41bp 1 0.443765387879725 1 0.974929332733154 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 39 NDUFS8 ENSG00000110717 CDS Human protein_coding chr11:67803765 chr11:67803783 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_79516 1 Likely pathogenic not provided RCV000493719.1
3105 chr11 67803783 67803783 1 + G A UCEC 67803778 + 67803758 67803798 41 CCGCCGGACCACCCGCTATGACATCGACATGACCAAGTGCA CCGCCGGACCACCCGCTATGACATCAACATGACCAAGTGCA < 41bp 1 0.717215511492584 1 0.975834667682648 experiment 0.565568977014833 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 26 NDUFS8 ENSG00000110717 CDS Human protein_coding chr11:67803778 chr11:67803783 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_79517 1 Likely pathogenic not provided RCV000493719.1
3106 chr5 118844919 118844919 1 + C T UCEC 118844929 + 118844909 118844949 41 TGGTGGAAAACGGACATCAGACAAAGTCAAGGTAAGCCATG TGGTGGAAAATGGACATCAGACAAAGTCAAGGTAAGCCATG < 41bp 1 0.707947313104711 1 0.902916133403778 experiment 0.584105373790579 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 11 HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118844929 chr5:118844919 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_79574 3 Uncertain significance not specified RCV000238819.1
3107 chr5 118844919 118844919 1 + C T UCEC 118844929 + 118844909 118844949 41 TGGTGGAAAACGGACATCAGACAAAGTCAAGGTAAGCCATG TGGTGGAAAATGGACATCAGACAAAGTCAAGGTAAGCCATG < 41bp 1 0.707947313104711 1 0.902916133403778 experiment 0.584105373790579 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 11 HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118844929 chr5:118844919 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_79574 3 Uncertain significance Bifunctional peroxisomal enzyme deficiency RCV000351976.1
3108 chr5 118844919 118844919 1 + C T UCEC 118844929 + 118844909 118844949 41 TGGTGGAAAACGGACATCAGACAAAGTCAAGGTAAGCCATG TGGTGGAAAATGGACATCAGACAAAGTCAAGGTAAGCCATG < 41bp 1 0.707947313104711 1 0.902916133403778 experiment 0.584105373790579 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 11 HSD17B4 ENSG00000133835 CDS Human protein_coding chr5:118844929 chr5:118844919 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_79574 3 Uncertain significance Perrault Syndrome RCV000390048.1
3109 chr2 135888230 135888230 1 + G A UCEC 135888234 + 135888214 135888254 41 GCAAAGAAGAAAATCCGAAAACACAGAGGTGTAGAGGAGTC GCAAAGAAGAAAATCCAAAAACACAGAGGTGTAGAGGAGTC < 41bp 1 0.799319559520625 1 0.0197195410728455 experiment 0.40136088095875 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 17 RAB3GAP1 ENSG00000115839 CDS Human protein_coding chr2:135888234 chr2:135888230 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_79612 1 Uncertain significance Warburg micro syndrome RCV000403553.1
3110 chr5 82836537 82836537 1 + C T UCEC 82836533 + 82836513 82836553 41 TTGAAATTCTACCTGAGCTGACATCGGATAAAAATACTATC TTGAAATTCTACCTGAGCTGACATTGGATAAAAATACTATC < 41bp 1 0.765187712399323 1 0.962430596351624 experiment 0.469624575201353 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 VCAN ENSG00000038427 CDS Human protein_coding chr5:82836533 chr5:82836537 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_79668 2 Likely benign Vitreoretinopathy RCV000263453.1
3111 chr5 82836537 82836537 1 + C T UCEC 82836533 + 82836513 82836553 41 TTGAAATTCTACCTGAGCTGACATCGGATAAAAATACTATC TTGAAATTCTACCTGAGCTGACATTGGATAAAAATACTATC < 41bp 1 0.765187712399323 1 0.962430596351624 experiment 0.469624575201353 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 25 VCAN ENSG00000038427 CDS Human protein_coding chr5:82836533 chr5:82836537 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_79668 2 Likely benign Wagner syndrome RCV000298761.1
3112 chr5 179250872 179250872 1 + C T UCEC 179250879 + 179250859 179250899 41 GAAAAAAGAGTGCCGGCGGGACCACCGCCCACCGTGTGCTC GAAAAAAGAGTGCTGGCGGGACCACCGCCCACCGTGTGCTC < 41bp 1 0.146865446536461 1 0.272288084030151 experiment 1 Functional Loss 30867593;GSE121942;miCLIP;HepG2;Control 14 SQSTM1 ENSG00000161011 CDS Human protein_coding chr5:179250879 chr5:179250872 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_79730 1 Uncertain significance Paget disease of bone RCV000337545.1
3113 chr13 32911085 32911085 1 + G T UCEC 32911091 + 32911071 32911111 41 TCCAAAAAAATCAAGAAGAAACTACTTCAATTTCAAAAATA TCCAAAAAAATCAATAAGAAACTACTTCAATTTCAAAAATA < 41bp 1 0.608304370308885 1 0.917436480522156 experiment 0.783391259382229 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 15 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911091 chr13:32911085 stopgain 0.060 0 hm6A_associated_SNPs_79963 2 Pathogenic Breast-ovarian cancer, familial 2 RCV000257089.2
3114 chr13 32911085 32911085 1 + G T UCEC 32911091 + 32911071 32911111 41 TCCAAAAAAATCAAGAAGAAACTACTTCAATTTCAAAAATA TCCAAAAAAATCAATAAGAAACTACTTCAATTTCAAAAATA < 41bp 1 0.608304370308885 1 0.917436480522156 experiment 0.783391259382229 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 15 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32911091 chr13:32911085 stopgain 0.060 0 hm6A_associated_SNPs_79963 2 Likely pathogenic Hereditary breast and ovarian cancer syndrome RCV000502188.1
3115 chr8 61777854 61777854 1 + G A UCEC 61777870 + 61777850 61777890 41 CGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCC CGCCAGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCC < 41bp 1 0.769454034546945 1 0.999602794647217 experiment 0.46109193090611 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 5 CHD7 ENSG00000171316 CDS Human protein_coding chr8:61777870 chr8:61777854 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_80064 1 Uncertain significance not specified RCV000202970.1
3116 chr5 434261 434261 1 + G A UCEC 434253 + 434233 434273 41 TACTCCAGCCGGACCAGCAGACCCATGCGGGATGTCGGTGA TACTCCAGCCGGACCAGCAGACCCATGCAGGATGTCGGTGA < 41bp 1 0.762367194640159 1 0.958710968494415 experiment 0.475265610719683 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 AHRR ENSG00000063438 CDS Human protein_coding chr5:434253 chr5:434261 nonsynonymous SNV 0.000 0 hm6A_associated_SNPs_80390 1 Uncertain significance Malignant tumor of prostate RCV000204659.1
3117 chr9 131356575 131356575 1 + G A UCEC 131356581 + 131356561 131356601 41 ATGAGAAGGAAGCCGCTCTGACAAGTGAGGAGGTCGGAGCA ATGAGAAGGAAGCCACTCTGACAAGTGAGGAGGTCGGAGCA < 41bp 1 0.622767247286907 1 0.830202102661133 experiment 0.754465505426185 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 15 SPTAN1 ENSG00000197694 CDS Human protein_coding chr9:131356581 chr9:131356575 nonsynonymous SNV 0.987 1 hm6A_associated_SNPs_80906 1 Likely benign not specified RCV000189450.3
3118 chr5 82837160 82837160 1 + C T UCEC 82837146 + 82837126 82837166 41 AGCTGAGGAGGCATTAGTAGACCATACTCCCTATCTAAGTA AGCTGAGGAGGCATTAGTAGACCATACTCCCTATTTAAGTA < 41bp 1 0.218077593110393 1 0.978305816650391 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 35 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837146 chr5:82837160 synonymous SNV . 0 hm6A_associated_SNPs_80959 2 Likely benign Wagner syndrome RCV000280328.1
3119 chr5 82837160 82837160 1 + C T UCEC 82837146 + 82837126 82837166 41 AGCTGAGGAGGCATTAGTAGACCATACTCCCTATCTAAGTA AGCTGAGGAGGCATTAGTAGACCATACTCCCTATTTAAGTA < 41bp 1 0.218077593110393 1 0.978305816650391 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 35 VCAN ENSG00000038427 CDS Human protein_coding chr5:82837146 chr5:82837160 synonymous SNV . 0 hm6A_associated_SNPs_80959 2 Likely benign Vitreoretinopathy RCV000319062.1
3120 chr17 80765526 80765526 1 + G A UCEC 80765508 + 80765488 80765528 41 GCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGT GCTGCTGGTCGGGCTGAAGGACAAGGACACGGTCGTGCAGT < 41bp 1 0.649839883586567 1 0.931308031082153 experiment 0.700320232826867 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression 39 TBCD ENSG00000141556 CDS Human protein_coding chr17:80765508 chr17:80765526 nonsynonymous SNV 0.477 4 hm6A_associated_SNPs_81335 1 Pathogenic Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum RCV000258901.1
3121 chr17 80765526 80765526 1 + G A UCEC 80765514 + 80765494 80765534 41 GGTCGGGCTGAAGGACAAGGACACGGTCGTGCGGTGGTCTG GGTCGGGCTGAAGGACAAGGACACGGTCGTGCAGTGGTCTG < 41bp 1 0.462044126423643 1 0.85124146938324 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 33 TBCD ENSG00000141556 CDS Human protein_coding chr17:80765514 chr17:80765526 nonsynonymous SNV 0.477 4 hm6A_associated_SNPs_81336 1 Pathogenic Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum RCV000258901.1
3122 chr4 169815741 169815741 1 + C T UCEC 169815736 + 169815716 169815756 41 CTTACGTTGTTTAGAGGTTAACATACGAAGAAAGAATGGCT CTTACGTTGTTTAGAGGTTAACATATGAAGAAAGAATGGCT < 41bp 1 0.230954110289453 1 0.202888578176498 experiment 1 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;HEK293T;AlKBH5 overexpression|31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 26 PALLD ENSG00000129116 CDS Human protein_coding chr4:169815736 chr4:169815741 synonymous SNV . 0 hm6A_associated_SNPs_81417 1 Likely benign Pancreatic adenocarcinoma RCV000477495.1
3123 chr5 149357239 149357239 1 + A G UCEC 149357259 + 149357239 149357279 41 ACATAACGTTTCACCCAGAGACTCAGCTGAAGGAAATGACA GCATAACGTTTCACCCAGAGACTCAGCTGAAGGAAATGACA < 41bp 1 0.712650463804123 1 0.948510408401489 experiment 0.574699072391754 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 1 SLC26A2 ENSG00000155850 CDS Human protein_coding chr5:149357259 chr5:149357239 synonymous SNV . 0 hm6A_associated_SNPs_81473 1 Uncertain significance not specified RCV000175525.1
3124 chr10 102749087 102749087 1 + C T UCEC 102749107 + 102749087 102749127 41 CGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGC TGGGAGGAGGTGCTAGGAGAACTGTCAAATGTGGAGCAAGC < 41bp 1 0.766084897859151 1 0.998046278953552 experiment 0.467830204281698 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;A549;Control|31279658;GSE122948;miCLIP;HEK293T;Control 1 TWNK ENSG00000107815 CDS Human protein_coding chr10:102749107 chr10:102749087 nonsynonymous SNV 0.999 5 hm6A_associated_SNPs_81829 1 Pathogenic Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 RCV000004892.6
3125 chr10 75874625 75874625 1 + C T UCEC 75874628 + 75874608 75874648 41 AGGCCACCATGCTGGGCCGGACCAACATCAGTGATGAGGAG AGGCCACCATGCTGGGCTGGACCAACATCAGTGATGAGGAG < 41bp 1 0.0995580819135739 1 0.00369933247566223 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 18 VCL ENSG00000035403 CDS Human protein_coding chr10:75874628 chr10:75874625 nonsynonymous SNV 0.997 4 hm6A_associated_SNPs_82297 1 Uncertain significance not specified RCV000038825.2
3126 chrX 149831928 149831928 1 + C A UCEC 149831946 + 149831926 149831966 41 TTCTTTATGGTCACTGATAAACAGTAATAAAGAAAAATTCA TTATTTATGGTCACTGATAAACAGTAATAAAGAAAAATTCA < 41bp 1 0.360018128196929 1 0.785167217254639 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 3 MTM1 ENSG00000171100 CDS Human protein_coding chrX:149831946 chrX:149831928 nonsynonymous SNV 1.000 5 hm6A_associated_SNPs_82391 1 Likely pathogenic Severe X-linked myotubular myopathy RCV000146424.1
3127 chr17 56780563 56780563 1 + G A UCEC 56780558 + 56780538 56780578 41 GAGTGTTTTGTTGTTTCAGAACACCGAAAAGCTTTGGAGGA GAGTGTTTTGTTGTTTCAGAACACCAAAAAGCTTTGGAGGA < 41bp 1 0.556384677842868 1 0.0382287800312042 experiment 0.887230644314264 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 26 RAD51C ENSG00000108384 CDS Human protein_coding chr17:56780558 chr17:56780563 nonsynonymous SNV 0.085 0 hm6A_associated_SNPs_82519 2 Likely benign Hereditary cancer-predisposing syndrome RCV000131254.3
3128 chr17 56780563 56780563 1 + G A UCEC 56780558 + 56780538 56780578 41 GAGTGTTTTGTTGTTTCAGAACACCGAAAAGCTTTGGAGGA GAGTGTTTTGTTGTTTCAGAACACCAAAAAGCTTTGGAGGA < 41bp 1 0.556384677842868 1 0.0382287800312042 experiment 0.887230644314264 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;Control|31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 26 RAD51C ENSG00000108384 CDS Human protein_coding chr17:56780558 chr17:56780563 nonsynonymous SNV 0.085 0 hm6A_associated_SNPs_82519 2 Uncertain significance Fanconi anemia, complementation group O RCV000461701.1
3129 chrX 69354501 69354501 1 + G A UCEC 69354505 + 69354485 69354525 41 CATTTGCAGCGGGCTCGAGAACACTTTATAAACTACTTAAC CATTTGCAGCGGGCTCAAGAACACTTTATAAACTACTTAAC < 41bp 1 0.768839436041359 1 0.973953247070312 experiment 0.462321127917282 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 17 IGBP1 ENSG00000089289 CDS Human protein_coding chrX:69354505 chrX:69354501 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_82559 1 Benign not specified RCV000079718.4
3130 chrX 69354501 69354501 1 + G A UCEC 69354516 + 69354496 69354536 41 GGCTCGAGAACACTTTATAAACTACTTAACTCAGTGCCATT GGCTCAAGAACACTTTATAAACTACTTAACTCAGTGCCATT < 41bp 1 0.445543842753766 1 0.959205746650696 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|26121403;GSE63753;miCLIP;HEK293;Control|26404942;GSE71154;m6A-CLIP-seq;CD8T;Control|31279658;GSE122948;miCLIP;HEK293T;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 6 IGBP1 ENSG00000089289 CDS Human protein_coding chrX:69354516 chrX:69354501 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_82560 1 Benign not specified RCV000079718.4
3131 chr12 121176360 121176360 1 + G A UCEC 121176346 + 121176326 121176366 41 GTCCCCACAGCAAACCCTGGACATGGGCCGCATCGGCATCG GTCCCCACAGCAAACCCTGGACATGGGCCGCATCAGCATCG < 41bp 1 0.302632088625804 1 0.974353849887848 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 35 ACADS ENSG00000122971 CDS Human protein_coding chr12:121176346 chr12:121176360 nonsynonymous SNV 0.993 5 hm6A_associated_SNPs_82570 1 Pathogenic not provided RCV000338902.1
3132 chrX 153006072 153006072 1 + C T UCEC 153006075 + 153006055 153006095 41 TGACCAGGTGATCTACCCGGACTCAGTGGAGGACATGCAAA TGACCAGGTGATCTACCTGGACTCAGTGGAGGACATGCAAA < 41bp 1 0.385947897841091 1 0.987259745597839 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 18 ABCD1 ENSG00000101986 CDS Human protein_coding chrX:153006075 chrX:153006072 nonsynonymous SNV 0.961 5 hm6A_associated_SNPs_82655 1 Pathogenic Adrenoleukodystrophy RCV000077958.4
3133 chr17 39976664 39976664 1 + C T UCEC 39976656 + 39976636 39976676 41 TGAGACCACCAAGCTTGGGGACTTTGTTCGATACCATTACA TGAGACCACCAAGCTTGGGGACTTTGTTTGATACCATTACA < 41bp 1 0.40334560757249 1 0.94898509979248 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control 29 FKBP10 ENSG00000141756 CDS Human protein_coding chr17:39976656 chr17:39976664 stopgain 0.976 0 hm6A_associated_SNPs_83333 1 Pathogenic Osteogenesis imperfecta type 12 RCV000033069.4
3134 chrX 18622765 18622765 1 + C T UCEC 18622777 + 18622757 18622797 41 GAAGCTGCCGGAGCACATGGACAGTAGCCATTCCCATTCAC GAAGCTGCTGGAGCACATGGACAGTAGCCATTCCCATTCAC < 41bp 1 0.762551420573357 1 0.99853789806366 experiment 0.474897158853287 Functional Loss 26121403;GSE63753;miCLIP;HEK293;sysy_antinbody 9 CDKL5 ENSG00000008086 CDS Human protein_coding chrX:18622777 chrX:18622765 nonsynonymous SNV 0.881 2 hm6A_associated_SNPs_83375 1 Likely benign not specified RCV000144830.2
3135 chr5 52899333 52899333 1 + A G UCEC 52899317 + 52899297 52899337 41 CACATGGAGATTGGCACAGGACCAGACTCAAGACACACAAC CACATGGAGATTGGCACAGGACCAGACTCAAGACACGCAAC < 41bp 1 0.289832945760994 1 0.898966312408447 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 37 NDUFS4 ENSG00000164258 CDS Human protein_coding chr5:52899317 chr5:52899333 synonymous SNV . 0 hm6A_associated_SNPs_83392 1 Likely benign not specified RCV000419327.1
3136 chr5 52899333 52899333 1 + A G UCEC 52899322 + 52899302 52899342 41 GGAGATTGGCACAGGACCAGACTCAAGACACACAACTCATA GGAGATTGGCACAGGACCAGACTCAAGACACGCAACTCATA < 41bp 1 0.29687912604367 1 0.823112905025482 experiment 1 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 32 NDUFS4 ENSG00000164258 CDS Human protein_coding chr5:52899322 chr5:52899333 synonymous SNV . 0 hm6A_associated_SNPs_83393 1 Likely benign not specified RCV000419327.1
3137 chr5 52899333 52899333 1 + A G UCEC 52899329 + 52899309 52899349 41 GGCACAGGACCAGACTCAAGACACACAACTCATAACAGTTG GGCACAGGACCAGACTCAAGACACGCAACTCATAACAGTTG < 41bp 1 0.521811387048674 1 0.85618531703949 experiment 0.956377225902652 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 25 NDUFS4 ENSG00000164258 CDS Human protein_coding chr5:52899329 chr5:52899333 synonymous SNV . 0 hm6A_associated_SNPs_83394 1 Likely benign not specified RCV000419327.1
3138 chr5 52899333 52899333 1 + A G UCEC 52899343 + 52899323 52899363 41 CTCAAGACACACAACTCATAACAGTTGATGAAAAATTGGTA CTCAAGACACGCAACTCATAACAGTTGATGAAAAATTGGTA < 41bp 1 0.567290678825162 1 0.810999631881714 experiment 0.865418642349675 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control 11 NDUFS4 ENSG00000164258 CDS Human protein_coding chr5:52899343 chr5:52899333 synonymous SNV . 0 hm6A_associated_SNPs_83395 1 Likely benign not specified RCV000419327.1
3139 chr21 47836181 47836181 1 + G A UCEC 47836194 + 47836174 47836214 41 CTGTGACGGAGAAGAGCCTGACATATCACCCCACATAGACA CTGTGACAGAGAAGAGCCTGACATATCACCCCACATAGACA < 41bp 1 0.765707992906668 1 0.980287551879883 experiment 0.468584014186664 Functional Loss 26404942;GSE71154;m6A-CLIP-seq;CD8T;Control 8 PCNT ENSG00000160299 CDS Human protein_coding chr21:47836194 chr21:47836181 nonsynonymous SNV 0.027 0 hm6A_associated_SNPs_83634 1 Uncertain significance not specified RCV000500668.1
3140 chrX 22010747 22010747 1 + G A UCEC 22010759 + 22010739 22010779 41 GCACTGTCGCTCTATGAAGAACAGCTGGGGCGCCTGTATTG GCACTGTCACTCTATGAAGAACAGCTGGGGCGCCTGTATTG < 41bp 1 0.480107756882764 1 0.538268208503723 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 9 SMS ENSG00000102172 CDS Human protein_coding chrX:22010759 chrX:22010747 synonymous SNV . 0 hm6A_associated_SNPs_83794 1 Uncertain significance not specified RCV000173806.1
3141 chr4 72205123 72205123 1 + G A UCEC 72205135 + 72205115 72205155 41 CATCTTGGGAGAGGAGGATGACAGCCCAGCTCCCCCTCAGC CATCTTGGAAGAGGAGGATGACAGCCCAGCTCCCCCTCAGC < 41bp 1 0.1179287367281 1 0.620519936084747 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 9 SLC4A4 ENSG00000080493 CDS Human protein_coding chr4:72205135 chr4:72205123 nonsynonymous SNV 0.994 4 hm6A_associated_SNPs_83835 1 Uncertain significance Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation RCV000303899.1
3142 chr10 89653820 89653820 1 + G T UCEC 89653825 + 89653805 89653845 41 ATGGGATTTCCTGCAGAAAGACTTGAAGGCGTATACAGGAA ATGGGATTTCCTGCATAAAGACTTGAAGGCGTATACAGGAA < 41bp 1 0.435675110891214 1 0.906242966651917 experiment 1 Functional Loss 31548708;GSE125780;DART-seq;HEK293T;METTL3_depleted 16 PTEN ENSG00000171862 CDS Human protein_coding chr10:89653825 chr10:89653820 stopgain 1.000 1 hm6A_associated_SNPs_83848 1 Pathogenic Cowden syndrome RCV000210162.1
3143 chr1 156104682 156104682 1 + G A UCEC 156104697 + 156104677 156104717 41 CTGGCGGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGA CTGGCAGATGCGCTGCAGGAACTGCGGGCCCAGCATGAGGA < 41bp 1 0.567312226870039 1 0.988565564155579 experiment 0.865375546259922 Functional Loss 25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;Control 6 LMNA ENSG00000160789 CDS Human protein_coding chr1:156104697 chr1:156104682 synonymous SNV . 0 hm6A_associated_SNPs_83928 1 Uncertain significance not specified RCV000345591.1
3144 chr7 105182994 105182994 1 + C T UCEC 105182990 + 105182970 105183010 41 CCATTAACAGCCATTTGCTGACTGCGCAACCTTGGATGGAC CCATTAACAGCCATTTGCTGACTGTGCAACCTTGGATGGAC < 41bp 1 0.441328441379525 1 0.972124874591827 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control 25 RINT1 ENSG00000135249 CDS Human protein_coding chr7:105182990 chr7:105182994 nonsynonymous SNV 0.095 1 hm6A_associated_SNPs_83935 1 Uncertain significance not specified RCV000225972.2
3145 chr19 18278061 18278061 1 + A G UCEC 18278062 + 18278042 18278082 41 AGAGATCGACAAGCGCATGAACAGCCTCAAGCCGGACCTCA AGAGATCGACAAGCGCATGGACAGCCTCAAGCCGGACCTCA < 41bp 1 0.746485425408195 1 0.986790060997009 experiment 0.50702914918361 Functional Loss 31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 20 PIK3R2 ENSG00000105647;ENSG00000268173 CDS Human other chr19:18278062 chr19:18278061 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_83939 1 Likely pathogenic Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation RCV000430787.1
3146 chr16 30080245 30080245 1 + C G UCEC 30080227 + 30080207 30080247 41 TGTGTGCTGAAGATTGGGGAACACACCCCCTCAGCCCTCGC TGTGTGCTGAAGATTGGGGAACACACCCCCTCAGCCCTGGC < 41bp 1 0.570582786769568 1 0.86863899230957 experiment 0.858834426460863 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout|30867593;GSE121942;miCLIP;HepG2;Control|31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;ZCCHC4 Knockout 39 ALDOA ENSG00000149925 CDS Human protein_coding chr16:30080227 chr16:30080245 synonymous SNV . 0 hm6A_associated_SNPs_83941 1 Likely benign not specified RCV000427446.1
3147 chr13 32913027 32913027 1 + G A UCEC 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA CATGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA < 41bp 1 0.516851019199208 1 0.977167427539825 experiment 0.966297961601584 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913027 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_84126 4 Uncertain significance Hereditary breast and ovarian cancer syndrome RCV000044429.3
3148 chr13 32913027 32913027 1 + G A UCEC 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA CATGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA < 41bp 1 0.516851019199208 1 0.977167427539825 experiment 0.966297961601584 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913027 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_84126 4 Uncertain significance Breast-ovarian cancer, familial 2 RCV000113313.1
3149 chr13 32913027 32913027 1 + G A UCEC 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA CATGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA < 41bp 1 0.516851019199208 1 0.977167427539825 experiment 0.966297961601584 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913027 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_84126 4 Uncertain significance Hereditary cancer-predisposing syndrome RCV000167383.2
3150 chr13 32913027 32913027 1 + G A UCEC 32913046 + 32913026 32913066 41 CGTGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA CATGATGAAAAGATCAAAGAACCTACTCTATTGGGTTTTCA < 41bp 1 0.516851019199208 1 0.977167427539825 experiment 0.966297961601584 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 2 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32913046 chr13:32913027 nonsynonymous SNV 0.002 0 hm6A_associated_SNPs_84126 4 Uncertain significance not specified RCV000481718.2
3151 chr21 47552154 47552154 1 + C T UCEC 47552141 + 47552121 47552161 41 GGAGACCACACAATACCTGAACTCCTTCTCGCACGTGGGCG GGAGACCACACAATACCTGAACTCCTTCTCGCATGTGGGCG < 41bp 1 0.722155275744211 1 0.997457146644592 experiment 0.555689448511578 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 34 COL6A2 ENSG00000142173 CDS Human protein_coding chr21:47552141 chr21:47552154 synonymous SNV . 0 hm6A_associated_SNPs_84202 1 Uncertain significance not specified RCV000403904.1
3152 chr10 88451808 88451808 1 + C T UCEC 88451813 + 88451793 88451833 41 TCCTGGCCCAGATGACGGGGACAGAATTCAGTGAGTGCAGG TCCTGGCCCAGATGATGGGGACAGAATTCAGTGAGTGCAGG < 41bp 1 0.0553670389407671 1 0.898638844490051 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 16 LDB3 ENSG00000122367 CDS Human protein_coding chr10:88451813 chr10:88451808 nonsynonymous SNV 0.907 3 hm6A_associated_SNPs_84245 1 Uncertain significance not specified RCV000155800.2
3153 chr16 31201000 31201000 1 + G A UCEC 31201003 + 31200983 31201023 41 CAGACAAACAAGAAAACGGGACAGCCCATGATTAATTTGTA CAGACAAACAAGAAAACAGGACAGCCCATGATTAATTTGTA < 41bp 1 0.362108439721101 1 0.880287051200867 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control|31279658;GSE122948;miCLIP;HEK293T;PCIF1 Knockout 18 FUS ENSG00000089280 CDS Human protein_coding chr16:31201003 chr16:31201000 synonymous SNV . 0 hm6A_associated_SNPs_84266 1 Uncertain significance Amyotrophic Lateral Sclerosis, Dominant RCV000289061.1
3154 chr16 30734344 30734344 1 + G A UCEC 30734333 + 30734313 30734353 41 GTGGTGAAGATTGTAGTGAGACAAGCCCCTCGGGATGGACT GTGGTGAAGATTGTAGTGAGACAAGCCCCTCAGGATGGACT < 41bp 1 0.798235602602897 1 0.738833665847778 experiment 0.403528794794207 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 32 SRCAP ENSG00000080603 CDS Human protein_coding chr16:30734333 chr16:30734344 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_84373 1 Uncertain significance Floating-Harbor syndrome RCV000275917.1
3155 chr1 156106994 156106994 1 + C T UCEC 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGTGTACGGCTCTCA < 41bp 1 0.347175115750758 1 0.171604782342911 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 29 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106994 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_84382 4 Pathogenic Mandibuloacral dysostosis RCV000015576.24
3156 chr1 156106994 156106994 1 + C T UCEC 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGTGTACGGCTCTCA < 41bp 1 0.347175115750758 1 0.171604782342911 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 29 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106994 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_84382 4 not provided not provided RCV000057324.1
3157 chr1 156106994 156106994 1 + C T UCEC 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGTGTACGGCTCTCA < 41bp 1 0.347175115750758 1 0.171604782342911 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 29 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106994 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_84382 4 Pathogenic Hutchinson-Gilford syndrome RCV000192011.2
3158 chr1 156106994 156106994 1 + C T UCEC 156106986 + 156106966 156107006 41 GAACACCTGGGGCTGCGGGAACAGCCTGCGTACGGCTCTCA GAACACCTGGGGCTGCGGGAACAGCCTGTGTACGGCTCTCA < 41bp 1 0.347175115750758 1 0.171604782342911 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control|25491922;GSE54921;PA-m6A-seq;HeLa;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 29 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106986 chr1:156106994 nonsynonymous SNV 0.997 5 hm6A_associated_SNPs_84382 4 Pathogenic Charcot-Marie-Tooth disease RCV000192240.1
3159 chr10 60588607 60588607 1 + C T UCEC 60588623 + 60588603 60588643 41 ACCCCGTCAGTATCACTCAGACATTGCTAGTGTCAGTGGCC ACCCTGTCAGTATCACTCAGACATTGCTAGTGTCAGTGGCC < 41bp 1 0.711144114512501 1 0.859227895736694 experiment 0.577711770974999 Functional Loss 31281898;GSE125240;m6A-REF-seq;kidney;Control 5 BICC1 ENSG00000122870 CDS Human protein_coding chr10:60588623 chr10:60588607 nonsynonymous SNV 0.997 4 hm6A_associated_SNPs_84451 1 Uncertain significance not specified RCV000428528.1
3160 chr2 47637497 47637497 1 + G A UCEC 47637492 + 47637472 47637512 41 CGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGG CGGAGGAGAGACTGCTGGAGACATGAGGAAACTGAGACAGG < 41bp 1 0.591374019186972 1 0.864330530166626 experiment 0.817251961626056 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 26 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637492 chr2:47637497 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_84682 3 Uncertain significance Lynch syndrome RCV000122991.1
3161 chr2 47637497 47637497 1 + G A UCEC 47637492 + 47637472 47637512 41 CGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGG CGGAGGAGAGACTGCTGGAGACATGAGGAAACTGAGACAGG < 41bp 1 0.591374019186972 1 0.864330530166626 experiment 0.817251961626056 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 26 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637492 chr2:47637497 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_84682 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000222170.1
3162 chr2 47637497 47637497 1 + G A UCEC 47637492 + 47637472 47637512 41 CGGAGGAGAGACTGCTGGAGACATGGGGAAACTGAGACAGG CGGAGGAGAGACTGCTGGAGACATGAGGAAACTGAGACAGG < 41bp 1 0.591374019186972 1 0.864330530166626 experiment 0.817251961626056 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 26 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47637492 chr2:47637497 nonsynonymous SNV 0.998 2 hm6A_associated_SNPs_84682 3 Uncertain significance not specified RCV000486574.1
3163 chr19 11240238 11240238 1 + G A UCEC 11240249 + 11240229 11240269 41 GAAGAACTGGCGGCTTAAGAACATCAACAGCATCAACTTTG GAAGAACTGACGGCTTAAGAACATCAACAGCATCAACTTTG < 41bp 1 0.75388887282316 1 0.93552154302597 experiment 0.492222254353681 Functional Loss 31257032;GSE122961;MAZTER-seq;ESC;Control|31257032;GSE122961;MAZTER-seq;ESC;FTO Knockout 10 LDLR ENSG00000130164 CDS Human protein_coding chr19:11240249 chr19:11240238 stopgain 0.764 2 hm6A_associated_SNPs_84936 1 Pathogenic Familial hypercholesterolemia RCV000003892.5
3164 chrX 38280288 38280288 1 + T C UCEC 38280297 + 38280277 38280317 41 CTGTCATGGTGTCCCTGCTGACAGATTACTCACCTCAGCTC CTGTCATGGTGCCCCTGCTGACAGATTACTCACCTCAGCTC < 41bp 1 0.637014689404307 1 0.00118499994277954 experiment 0.725970621191386 Functional Loss 31281898;GSE125240;m6A-REF-seq;liver;Control 12 OTC ENSG00000036473 CDS Human protein_coding chrX:38280297 chrX:38280288 nonsynonymous SNV 0.999 5 hm6A_associated_SNPs_84937 1 Pathogenic not provided RCV000083321.1
3165 chr1 156106127 156106127 1 + G A UCEC 156106107 + 156106087 156106127 41 AGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCG AGCGTCACCAAAAAGCGCAAACTGGAGTCCACTGAGAGCCA < 41bp 1 0.248373015298088 1 0.907001912593842 experiment 1 Functional Loss 31328227;GSE128699;miCLIP;HCT116;Control|31328227;GSE128699;miCLIP;HCT116;METTL5 Knockout 41 LMNA ENSG00000160789 CDS Human protein_coding chr1:156106107 chr1:156106127 nonsynonymous SNV 0.992 2 hm6A_associated_SNPs_85062 1 Uncertain significance not specified RCV000235626.1
3166 chr4 74274452 74274452 1 + C T UCEC 74274444 + 74274424 74274464 41 ACACAAAGATGACAACCCAAACCTCCCCCGATTGGTGAGAC ACACAAAGATGACAACCCAAACCTCCCCTGATTGGTGAGAC < 41bp 1 0.0775801774335728 1 0.696948349475861 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 29 ALB ENSG00000163631 CDS Human protein_coding chr4:74274444 chr4:74274452 stopgain 0.000 0 hm6A_associated_SNPs_85282 1 not provided Analbuminemia RCV000144404.1
3167 chr4 74274452 74274452 1 + C T UCEC 74274463 + 74274443 74274483 41 AACCTCCCCCGATTGGTGAGACCAGAGGTTGATGTGATGTG AACCTCCCCTGATTGGTGAGACCAGAGGTTGATGTGATGTG < 41bp 1 0.0712758039506666 1 0.757048964500427 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock|26593424;GSE73405;miCLIP;HepG2;Control 10 ALB ENSG00000163631 CDS Human protein_coding chr4:74274463 chr4:74274452 stopgain 0.000 0 hm6A_associated_SNPs_85283 1 not provided Analbuminemia RCV000144404.1
3168 chr11 108098563 108098563 1 + C T UCEC 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATTGG < 41bp 1 0.691058841160655 1 0.545238614082336 experiment 0.61788231767869 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 39 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098563 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_85302 3 Uncertain significance Hereditary cancer-predisposing syndrome RCV000129025.3
3169 chr11 108098563 108098563 1 + C T UCEC 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATTGG < 41bp 1 0.691058841160655 1 0.545238614082336 experiment 0.61788231767869 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 39 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098563 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_85302 3 Uncertain significance Ataxia-telangiectasia syndrome RCV000199094.3
3170 chr11 108098563 108098563 1 + C T UCEC 108098545 + 108098525 108098565 41 GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATCGG GCCTGATTCGAGATCCTGAAACAATTAAACATCTAGATTGG < 41bp 1 0.691058841160655 1 0.545238614082336 experiment 0.61788231767869 Functional Loss 31257032;GSE122961;MAZTER-seq;HEK293T;FTO overexpression 39 ATM ENSG00000149311 CDS Human protein_coding chr11:108098545 chr11:108098563 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_85302 3 Uncertain significance not specified RCV000219679.2
3171 chr4 114277351 114277351 1 + C T UCEC 114277333 + 114277313 114277353 41 TGATGGCAGTGCTGAGGATGACAGTCTTGAGCAGACATCGC TGATGGCAGTGCTGAGGATGACAGTCTTGAGCAGACATTGC < 41bp 1 0.361779595417735 1 0.997148513793945 experiment 1 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control|31281898;GSE125240;m6A-REF-seq;kidney;Control 39 ANK2 ENSG00000145362 CDS Human protein_coding chr4:114277333 chr4:114277351 nonsynonymous SNV 0.752 4 hm6A_associated_SNPs_85410 1 Uncertain significance Cardiac arrest RCV000208500.1
3172 chr4 114277351 114277351 1 + C T UCEC 114277347 + 114277327 114277367 41 AGGATGACAGTCTTGAGCAGACATCGCTCATGGAGAGCTCA AGGATGACAGTCTTGAGCAGACATTGCTCATGGAGAGCTCA < 41bp 1 0.540515243831306 1 0.997415721416473 experiment 0.918969512337388 Functional Loss 31281898;GSE125240;m6A-REF-seq;brain;Control 25 ANK2 ENSG00000145362 CDS Human protein_coding chr4:114277347 chr4:114277351 nonsynonymous SNV 0.752 4 hm6A_associated_SNPs_85411 1 Uncertain significance Cardiac arrest RCV000208500.1
3173 chr5 135388651 135388651 1 + G A UCEC 135388667 + 135388647 135388687 41 TTGCGGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTG TTGCAGGGCTGTCTGTAGAGACCCTGGAGGGCACGACACTG < 41bp 1 0.159053723495141 1 0.679179787635803 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Control 5 TGFBI ENSG00000120708 CDS Human protein_coding chr5:135388667 chr5:135388651 synonymous SNV . 0 hm6A_associated_SNPs_85437 1 Uncertain significance Corneal Dystrophy, Dominant RCV000316116.1
3174 chrX 135289980 135289980 1 + G A UCEC 135289993 + 135289973 135290013 41 GGGGACCGTCTGGCACAAAGACTGCTTCACCTGTAGTAACT GGGGACCATCTGGCACAAAGACTGCTTCACCTGTAGTAACT < 41bp 1 0.26326032636993 1 0.972419142723083 experiment 1 Functional Loss 31279658;GSE122948;miCLIP;HEK293T;Control 8 FHL1 ENSG00000022267 CDS Human protein_coding chrX:135289993 chrX:135289980 nonsynonymous SNV 0.993 1 hm6A_associated_SNPs_85457 1 Uncertain significance not specified RCV000396680.1
3175 chr10 101559103 101559103 1 + C T UCS 101559094 + 101559074 101559114 41 CCTACTGAAGCTAGTGAATGACATCTTCACGTTTGTGAGTC CCTACTGAAGCTAGTGAATGACATCTTCATGTTTGTGAGTC < 41bp 1 0.326154652601297 1 0.738465309143066 experiment 1 Functional Loss 26593424;GSE73405;miCLIP;HepG2;Heat_shock 30 ABCC2 ENSG00000023839 CDS Human protein_coding chr10:101559094 chr10:101559103 nonsynonymous SNV 0.013 1 hm6A_associated_SNPs_85789 1 Uncertain significance not specified RCV000335417.1
3176 chr10 89624296 89624296 1 + G C UCS 89624302 + 89624282 89624322 41 ATGGATTCGACTTAGACTTGACCTGTATCCATTTCTGCGGC ATGGATTCGACTTACACTTGACCTGTATCCATTTCTGCGGC < 41bp 1 0.299253111149391 1 0.996833801269531 experiment 1 Functional Loss 28920958;GSE98623;miCLIP;MOLM13;Control 15 PTEN ENSG00000171862 CDS Human protein_coding chr10:89624302 chr10:89624296 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_85847 1 Pathogenic Hereditary cancer-predisposing syndrome RCV000165524.1
3177 chr9 98229639 98229639 1 + G A LAML 98229622 - 98229602 98229642 41 AGACGGGCTGGACCTTACGGACATTGTACCTCGGGAAACCA AGATGGGCTGGACCTTACGGACATTGTACCTCGGGAAACCA < 41bp 1 0.793765703516356 1 0.928378760814667 experiment 0.412468592967288 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 4 PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98229622 chr9:98229639 synonymous SNV . 0 hm6A_associated_SNPs_86060 2 Likely benign Gorlin syndrome RCV000198611.3
3178 chr9 98229639 98229639 1 + G A LAML 98229622 - 98229602 98229642 41 AGACGGGCTGGACCTTACGGACATTGTACCTCGGGAAACCA AGATGGGCTGGACCTTACGGACATTGTACCTCGGGAAACCA < 41bp 1 0.793765703516356 1 0.928378760814667 experiment 0.412468592967288 Functional Loss 24981863;GSE54365;m6A-seq with improved protocol;A549;Control 4 PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98229622 chr9:98229639 synonymous SNV . 0 hm6A_associated_SNPs_86060 2 Likely benign Hereditary cancer-predisposing syndrome RCV000492074.1
3179 chr9 139981627 139981627 1 + A G rs968733 139981627 + 139981607 139981647 41 GACGCTGAGCTTTGGCGAGAACTATGACAACAGCAAGAGTT GACGCTGAGCTTTGGCGAGAGCTATGACAACAGCAAGAGTT Direct Loss 0.933402502146676 0 0.9643552 0.951362431049347 prediction 0.866805004293352 Functional Loss - 21 MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139981627 chr9:139981627 nonsynonymous SNV 0.959 0 hm6A_associated_SNPs_86293 2 Likely benign not specified RCV000117582.2
3180 chr9 139981627 139981627 1 + A G rs968733 139981627 + 139981607 139981647 41 GACGCTGAGCTTTGGCGAGAACTATGACAACAGCAAGAGTT GACGCTGAGCTTTGGCGAGAGCTATGACAACAGCAAGAGTT Direct Loss 0.933402502146676 0 0.9643552 0.951362431049347 prediction 0.866805004293352 Functional Loss - 21 MAN1B1 ENSG00000177239 CDS Human protein_coding chr9:139981627 chr9:139981627 nonsynonymous SNV 0.959 0 hm6A_associated_SNPs_86293 2 Benign Intellectual Disability, Recessive RCV000277681.1
3181 chr12 32875406 32875406 1 + A G rs10844318 32875404 + 32875384 32875424 41 ATTGTTTACCAGAGTTGAAAACAAGAATAAATGTTCTAGCT ATTGTTTACCAGAGTTGAAAACGAGAATAAATGTTCTAGCT Direct Loss 0.819410478578461 0.484545159324079 0.061506808 0.397091209888458 prediction 1 Functional Loss - 23 DNM1L ENSG00000087470 CDS Human protein_coding chr12:32875404 chr12:32875406 synonymous SNV . 0 hm6A_associated_SNPs_86344 2 Benign not specified RCV000249820.1
3182 chr12 32875406 32875406 1 + A G rs10844318 32875404 + 32875384 32875424 41 ATTGTTTACCAGAGTTGAAAACAAGAATAAATGTTCTAGCT ATTGTTTACCAGAGTTGAAAACGAGAATAAATGTTCTAGCT Direct Loss 0.819410478578461 0.484545159324079 0.061506808 0.397091209888458 prediction 1 Functional Loss - 23 DNM1L ENSG00000087470 CDS Human protein_coding chr12:32875404 chr12:32875406 synonymous SNV . 0 hm6A_associated_SNPs_86344 2 Benign Lethal Encephalopathy RCV000350107.1
3183 chrX 13778623 13778623 1 + A C rs148239437 13778621 + 13778601 13778641 41 CTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGG CTTGCTGGAAGCCTTCAAAAACCTTACTTCCAGTTCCCCGG < 41bp 0.841601184922108 0.542076519683054 0.8781895 0.989774465560913 prediction 0.599049330478107 Functional Loss - 23 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13778621 chrX:13778623 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_86355 3 Benign Joubert syndrome RCV000232480.1
3184 chrX 13778623 13778623 1 + A C rs148239437 13778621 + 13778601 13778641 41 CTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGG CTTGCTGGAAGCCTTCAAAAACCTTACTTCCAGTTCCCCGG < 41bp 0.841601184922108 0.542076519683054 0.8781895 0.989774465560913 prediction 0.599049330478107 Functional Loss - 23 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13778621 chrX:13778623 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_86355 3 Benign Oral-facial-digital syndrome RCV000232480.1
3185 chrX 13778623 13778623 1 + A C rs148239437 13778621 + 13778601 13778641 41 CTTGCTGGAAGCCTTCAAAAACATTACTTCCAGTTCCCCGG CTTGCTGGAAGCCTTCAAAAACCTTACTTCCAGTTCCCCGG < 41bp 0.841601184922108 0.542076519683054 0.8781895 0.989774465560913 prediction 0.599049330478107 Functional Loss - 23 OFD1 ENSG00000046651 CDS Human protein_coding chrX:13778621 chrX:13778623 nonsynonymous SNV 0.001 1 hm6A_associated_SNPs_86355 3 Benign not specified RCV000367692.1
3186 chr10 27475444 27475444 1 + T C rs10741130 27475442 + 27475422 27475462 41 GGAATACTGCTCAGCACCTGACTGTATCTGGATTTAGTCTG GGAATACTGCTCAGCACCTGACCGTATCTGGATTTAGTCTG < 41bp 0.779605262822228 0.49137186224657 0.25590086 0.438754141330719 prediction 0.559210525644456 Functional Loss - 23 MASTL ENSG00000120539 CDS Human protein_coding chr10:27475442 chr10:27475444 synonymous SNV . 0 hm6A_associated_SNPs_86383 2 Benign not specified RCV000245396.1
3187 chr10 27475444 27475444 1 + T C rs10741130 27475442 + 27475422 27475462 41 GGAATACTGCTCAGCACCTGACTGTATCTGGATTTAGTCTG GGAATACTGCTCAGCACCTGACCGTATCTGGATTTAGTCTG < 41bp 0.779605262822228 0.49137186224657 0.25590086 0.438754141330719 prediction 0.559210525644456 Functional Loss - 23 MASTL ENSG00000120539 CDS Human protein_coding chr10:27475442 chr10:27475444 synonymous SNV . 0 hm6A_associated_SNPs_86383 2 Likely benign Thrombocytopenia RCV000372462.1
3188 chr2 109371488 109371488 1 + A G rs61748146 109371486 + 109371466 109371506 41 AATGCAGATTCAGAAATAAAACATTCTACACCGTCTCCTAC AATGCAGATTCAGAAATAAAACGTTCTACACCGTCTCCTAC Direct Loss 0.838937730219565 0.565688498594031 0.17513144 0.837936639785767 prediction 1 Functional Loss - 23 RANBP2 ENSG00000153201 CDS Human protein_coding chr2:109371486 chr2:109371488 nonsynonymous SNV 1.000 1 hm6A_associated_SNPs_86391 1 Benign not specified RCV000440405.1
3189 chr17 71199854 71199854 1 + A G rs147598221 71199852 + 71199832 71199872 41 GCCATGCCTTGCCAAAGGTGACATTACAGGAGATGCTGAAA GCCATGCCTTGCCAAAGGTGACGTTACAGGAGATGCTGAAA Direct Loss 0.812672236907855 0.556556031068318 0.06477234 0.0704084932804108 prediction 1 Functional Loss - 23 COG1 ENSG00000166685 CDS Human protein_coding chr17:71199852 chr17:71199854 synonymous SNV . 0 hm6A_associated_SNPs_86441 1 Uncertain significance Congenital disorder of glycosylation RCV000276291.1
3190 chr3 37035080 37035080 1 + A C rs369737664 37035078 + 37035058 37035098 41 TTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCG TTATTCGGCGGCTGGACGAGACCGTGGTGAACCGCATCGCG < 41bp 0.751340493201562 0.476213691984736 0.8836883 0.982672691345215 prediction 0.502680986403125 Functional Loss - 23 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37035078 chr3:37035080 synonymous SNV . 0 hm6A_associated_SNPs_86454 3 Benign Lynch syndrome RCV000122977.5
3191 chr3 37035080 37035080 1 + A C rs369737664 37035078 + 37035058 37035098 41 TTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCG TTATTCGGCGGCTGGACGAGACCGTGGTGAACCGCATCGCG < 41bp 0.751340493201562 0.476213691984736 0.8836883 0.982672691345215 prediction 0.502680986403125 Functional Loss - 23 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37035078 chr3:37035080 synonymous SNV . 0 hm6A_associated_SNPs_86454 3 Likely benign Hereditary cancer-predisposing syndrome RCV000126779.5
3192 chr3 37035080 37035080 1 + A C rs369737664 37035078 + 37035058 37035098 41 TTATTCGGCGGCTGGACGAGACAGTGGTGAACCGCATCGCG TTATTCGGCGGCTGGACGAGACCGTGGTGAACCGCATCGCG < 41bp 0.751340493201562 0.476213691984736 0.8836883 0.982672691345215 prediction 0.502680986403125 Functional Loss - 23 MLH1 ENSG00000076242 CDS Human protein_coding chr3:37035078 chr3:37035080 synonymous SNV . 0 hm6A_associated_SNPs_86454 3 Benign not specified RCV000212511.1
3193 chr18 29126484 29126484 1 + A C rs8095704 29126482 + 29126462 29126502 41 TAGCAGTAGGACAGAATGTGACAGTGACAGAAAGAGTTCTA TAGCAGTAGGACAGAATGTGACCGTGACAGAAAGAGTTCTA < 41bp 0.748095784889301 0.441630727279883 0.06598735 0.64973783493042 prediction 0.496191569778602 Functional Loss - 23 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126482 chr18:29126484 synonymous SNV . 0 hm6A_associated_SNPs_86464 3 Benign Cardiac arrhythmia RCV000029671.1
3194 chr18 29126484 29126484 1 + A C rs8095704 29126482 + 29126462 29126502 41 TAGCAGTAGGACAGAATGTGACAGTGACAGAAAGAGTTCTA TAGCAGTAGGACAGAATGTGACCGTGACAGAAAGAGTTCTA < 41bp 0.748095784889301 0.441630727279883 0.06598735 0.64973783493042 prediction 0.496191569778602 Functional Loss - 23 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126482 chr18:29126484 synonymous SNV . 0 hm6A_associated_SNPs_86464 3 Benign not specified RCV000037298.3
3195 chr18 29126484 29126484 1 + A C rs8095704 29126482 + 29126462 29126502 41 TAGCAGTAGGACAGAATGTGACAGTGACAGAAAGAGTTCTA TAGCAGTAGGACAGAATGTGACCGTGACAGAAAGAGTTCTA < 41bp 0.748095784889301 0.441630727279883 0.06598735 0.64973783493042 prediction 0.496191569778602 Functional Loss - 23 DSG2 ENSG00000046604 CDS Human protein_coding chr18:29126482 chr18:29126484 synonymous SNV . 0 hm6A_associated_SNPs_86464 3 Benign Arrhythmogenic right ventricular cardiomyopathy, type 10 RCV000228156.2
3196 chr6 132172368 132172368 1 + A C rs1044498 132172366 + 132172346 132172386 41 CTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCA CTGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCA < 41bp 0.746468649260315 0.271662840463468 0.047721416 0.562677621841431 prediction 0.492937298520631 Functional Loss - 23 ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172366 chr6:132172368 nonsynonymous SNV 0.010 0 hm6A_associated_SNPs_86473 6 other Insulin resistance, susceptibility to RCV000014558.3
3197 chr6 132172368 132172368 1 + A C rs1044498 132172366 + 132172346 132172386 41 CTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCA CTGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCA < 41bp 0.746468649260315 0.271662840463468 0.047721416 0.562677621841431 prediction 0.492937298520631 Functional Loss - 23 ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172366 chr6:132172368 nonsynonymous SNV 0.010 0 hm6A_associated_SNPs_86473 6 other Diabetes mellitus type 2 RCV000014559.3
3198 chr6 132172368 132172368 1 + A C rs1044498 132172366 + 132172346 132172386 41 CTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCA CTGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCA < 41bp 0.746468649260315 0.271662840463468 0.047721416 0.562677621841431 prediction 0.492937298520631 Functional Loss - 23 ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172366 chr6:132172368 nonsynonymous SNV 0.010 0 hm6A_associated_SNPs_86473 6 other Obesity RCV000033192.3
3199 chr6 132172368 132172368 1 + A C rs1044498 132172366 + 132172346 132172386 41 CTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCA CTGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCA < 41bp 0.746468649260315 0.271662840463468 0.047721416 0.562677621841431 prediction 0.492937298520631 Functional Loss - 23 ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172366 chr6:132172368 nonsynonymous SNV 0.010 0 hm6A_associated_SNPs_86473 6 Benign not specified RCV000178259.1
3200 chr6 132172368 132172368 1 + A C rs1044498 132172366 + 132172346 132172386 41 CTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCA CTGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCA < 41bp 0.746468649260315 0.271662840463468 0.047721416 0.562677621841431 prediction 0.492937298520631 Functional Loss - 23 ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172366 chr6:132172368 nonsynonymous SNV 0.010 0 hm6A_associated_SNPs_86473 6 Benign Hypophosphatemic Rickets, Recessive RCV000265863.1
3201 chr6 132172368 132172368 1 + A C rs1044498 132172366 + 132172346 132172386 41 CTGTTCAGATGACTGCAAGGACAAGGGCGACTGCTGCATCA CTGTTCAGATGACTGCAAGGACCAGGGCGACTGCTGCATCA < 41bp 0.746468649260315 0.271662840463468 0.047721416 0.562677621841431 prediction 0.492937298520631 Functional Loss - 23 ENPP1 ENSG00000197594 CDS Human protein_coding chr6:132172366 chr6:132172368 nonsynonymous SNV 0.010 0 hm6A_associated_SNPs_86473 6 Benign Arterial calcification of infancy RCV000355961.1
3202 chr17 78073589 78073589 1 + T C rs2304853 78073587 + 78073567 78073607 41 CCTCCTAGGGAGCAGCCTGGACTCCGCCTTGCAAGGCCTCC CCTCCTAGGGAGCAGCCTGGACCCCGCCTTGCAAGGCCTCC < 41bp 0.739308232983258 0.494868808650285 0.93948996 0.99133837223053 prediction 0.478616465966515 Functional Loss - 23 CCDC40 ENSG00000141519 UTR3 Human protein_coding chr17:78073587 chr17:78073589 . . 0 hm6A_associated_SNPs_86497 3 Benign not specified RCV000150258.3
3203 chr17 78073589 78073589 1 + T C rs2304853 78073587 + 78073567 78073607 41 CCTCCTAGGGAGCAGCCTGGACTCCGCCTTGCAAGGCCTCC CCTCCTAGGGAGCAGCCTGGACCCCGCCTTGCAAGGCCTCC < 41bp 0.739308232983258 0.494868808650285 0.93948996 0.99133837223053 prediction 0.478616465966515 Functional Loss - 23 CCDC40 ENSG00000141519 UTR3 Human protein_coding chr17:78073587 chr17:78073589 . . 0 hm6A_associated_SNPs_86497 3 Benign Primary ciliary dyskinesia RCV000272230.1
3204 chr17 78073589 78073589 1 + T C rs2304853 78073587 + 78073567 78073607 41 CCTCCTAGGGAGCAGCCTGGACTCCGCCTTGCAAGGCCTCC CCTCCTAGGGAGCAGCCTGGACCCCGCCTTGCAAGGCCTCC < 41bp 0.739308232983258 0.494868808650285 0.93948996 0.99133837223053 prediction 0.478616465966515 Functional Loss - 23 CCDC40 ENSG00000141519 UTR3 Human protein_coding chr17:78073587 chr17:78073589 . . 0 hm6A_associated_SNPs_86497 3 Benign Glycogen storage disease, type II RCV000326592.1
3205 chr8 48883295 48883295 1 + A G rs17287677 48883293 + 48883273 48883313 41 ACGTAATGAAAGACCCTGAGACAAGGCAGCTGGTCCTGCAG ACGTAATGAAAGACCCTGAGACGAGGCAGCTGGTCCTGCAG Direct Loss 0.764781127467478 0.529936853489288 0.6776442 0.908758699893951 prediction 1 Functional Loss - 23 MCM4 ENSG00000104738 CDS Human protein_coding chr8:48883293 chr8:48883295 synonymous SNV . 0 hm6A_associated_SNPs_86512 1 Uncertain significance Natural killer cell and glucocorticoid deficiency with DNA repair defect RCV000305168.1
3206 chr17 42153413 42153413 1 + T C rs113416399 42153411 + 42153391 42153431 41 CCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTT CCGCCCATCCACTCTTCCTGACCTCTTGTGTGCCTCCCTTT < 41bp 0.760941639846747 0.533448827752334 0.019242942 0.034573882818222 prediction 0.454985624188826 Functional Loss - 23 G6PC3 ENSG00000141349 UTR3 Human protein_coding chr17:42153411 chr17:42153413 . . 0 hm6A_associated_SNPs_86543 2 Likely benign not specified RCV000192773.2
3207 chr17 42153413 42153413 1 + T C rs113416399 42153411 + 42153391 42153431 41 CCGCCCATCCACTCTTCCTGACTTCTTGTGTGCCTCCCTTT CCGCCCATCCACTCTTCCTGACCTCTTGTGTGCCTCCCTTT < 41bp 0.760941639846747 0.533448827752334 0.019242942 0.034573882818222 prediction 0.454985624188826 Functional Loss - 23 G6PC3 ENSG00000141349 UTR3 Human protein_coding chr17:42153411 chr17:42153413 . . 0 hm6A_associated_SNPs_86543 2 Uncertain significance Severe congenital neutropenia RCV000291415.1
3208 chr2 47702290 47702290 1 + A G rs61756468 47702288 + 47702268 47702308 41 CCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAA CCAGCCATTTTGGAGAAAGGACGAGGAAGAATTATATTAAA Direct Loss 0.801198959593893 0.575485145940782 0.13142157 0.830398499965668 prediction 1 Functional Loss - 23 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47702288 chr2:47702290 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_86552 4 Benign Lynch syndrome RCV000076314.6
3209 chr2 47702290 47702290 1 + A G rs61756468 47702288 + 47702268 47702308 41 CCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAA CCAGCCATTTTGGAGAAAGGACGAGGAAGAATTATATTAAA Direct Loss 0.801198959593893 0.575485145940782 0.13142157 0.830398499965668 prediction 1 Functional Loss - 23 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47702288 chr2:47702290 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_86552 4 Benign not specified RCV000121562.1
3210 chr2 47702290 47702290 1 + A G rs61756468 47702288 + 47702268 47702308 41 CCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAA CCAGCCATTTTGGAGAAAGGACGAGGAAGAATTATATTAAA Direct Loss 0.801198959593893 0.575485145940782 0.13142157 0.830398499965668 prediction 1 Functional Loss - 23 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47702288 chr2:47702290 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_86552 4 Benign Hereditary cancer-predisposing syndrome RCV000129036.4
3211 chr2 47702290 47702290 1 + A G rs61756468 47702288 + 47702268 47702308 41 CCAGCCATTTTGGAGAAAGGACAAGGAAGAATTATATTAAA CCAGCCATTTTGGAGAAAGGACGAGGAAGAATTATATTAAA Direct Loss 0.801198959593893 0.575485145940782 0.13142157 0.830398499965668 prediction 1 Functional Loss - 23 MSH2 ENSG00000095002 CDS Human protein_coding chr2:47702288 chr2:47702290 nonsynonymous SNV 0.994 1 hm6A_associated_SNPs_86552 4 Uncertain significance Lynch syndrome I RCV000490519.1
3212 chr11 61205509 61205509 1 + A G LUSC 61205507 + 61205487 61205527 41 AAGAACATCTGCAGCACATGACAGAAAAGCAGCTGAACCTC AAGAACATCTGCAGCACATGACGGAAAAGCAGCTGAACCTC Direct Loss 0.736917638690987 0.525549593779464 0.03941384 0.220019549131393 prediction 1 Functional Loss - 23 SDHAF2 ENSG00000167985;ENSG00000256591 CDS Human other chr11:61205507 chr11:61205509 synonymous SNV . 0 hm6A_associated_SNPs_86625 1 Likely benign Hereditary Paraganglioma-Pheochromocytoma Syndromes RCV000469562.1
3213 chr13 32929309 32929309 1 + A C rs4986860 32929307 + 32929287 32929327 41 CAAAAGCAAAACATTGATGGACATGGCTCTGATGATAGTAA CAAAAGCAAAACATTGATGGACCTGGCTCTGATGATAGTAA < 41bp 0.710125501624296 0.378851950311091 0.7456305 0.953776836395264 prediction 0.420251003248592 Functional Loss - 23 BRCA2 ENSG00000139618 CDS Human protein_coding chr13:32929307 chr13:32929309 nonsynonymous SNV 0.010 0 hm6A_associated_SNPs_86628 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000217934.1
3214 chr19 11242133 11242133 1 + G A rs3826810 11242133 + 11242113 11242153 41 TCATCTGGGAGGCAGAACAGGCTTCGGACAGTGCCCATGCA TCATCTGGGAGGCAGAACAGACTTCGGACAGTGCCCATGCA Direct Gain 0 0.975096192727639 0 0.961342215538025 prediction 0.950192385455278 Functional Gain - 21 LDLR ENSG00000130164 CDS Human protein_coding chr19:11242133 chr19:11242133 nonsynonymous SNV 0.008 2 hm6A_associated_SNPs_86690 1 Likely benign Familial hypercholesterolemia RCV000343757.1
3215 chr16 31123595 31123595 1 + C A rs199965337 31123595 + 31123575 31123615 41 TTCCGGATCTGACCCCACAGCCTTTGGCCTGCTCACCCGAC TTCCGGATCTGACCCCACAGACTTTGGCCTGCTCACCCGAC Direct Gain 0 0.971064281825765 0 0.998252332210541 prediction 0.94212856365153 Functional Gain - 21 BCKDK ENSG00000103507 CDS Human protein_coding chr16:31123595 chr16:31123595 unknown . 0 hm6A_associated_SNPs_86701 1 Uncertain significance not specified RCV000403753.1
3216 chr2 48028127 48028127 1 + G A LAML 48028127 + 48028107 48028147 41 GTTGAAATCTACCAAGAAGGGCTGTAAACGATACTGGACCA GTTGAAATCTACCAAGAAGGACTGTAAACGATACTGGACCA Direct Gain 0 0.963577103122287 0 0.999129831790924 prediction 0.927154206244574 Functional Gain - 21 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48028127 chr2:48028127 nonsynonymous SNV 0.998 5 hm6A_associated_SNPs_86722 1 Uncertain significance not specified RCV000486945.1
3217 chr5 112176756 112176756 1 + T A rs459552 112176756 + 112176736 112176776 41 TTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAA TTTGAAAAATAATTCCAAGGACTTCAATGATAAGCTCCCAA Direct Gain 0 0.959592238715488 0 0.960971832275391 prediction 0.919184477430975 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176756 chr5:112176756 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_86733 6 Benign Familial adenomatous polyposis 1 RCV000020089.2
3218 chr5 112176756 112176756 1 + T A rs459552 112176756 + 112176736 112176776 41 TTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAA TTTGAAAAATAATTCCAAGGACTTCAATGATAAGCTCCCAA Direct Gain 0 0.959592238715488 0 0.960971832275391 prediction 0.919184477430975 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176756 chr5:112176756 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_86733 6 Benign not provided RCV000034393.1
3219 chr5 112176756 112176756 1 + T A rs459552 112176756 + 112176736 112176776 41 TTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAA TTTGAAAAATAATTCCAAGGACTTCAATGATAAGCTCCCAA Direct Gain 0 0.959592238715488 0 0.960971832275391 prediction 0.919184477430975 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176756 chr5:112176756 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_86733 6 Benign not specified RCV000035078.11
3220 chr5 112176756 112176756 1 + T A rs459552 112176756 + 112176736 112176776 41 TTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAA TTTGAAAAATAATTCCAAGGACTTCAATGATAAGCTCCCAA Direct Gain 0 0.959592238715488 0 0.960971832275391 prediction 0.919184477430975 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176756 chr5:112176756 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_86733 6 other Familial colorectal cancer RCV000074239.1
3221 chr5 112176756 112176756 1 + T A rs459552 112176756 + 112176736 112176776 41 TTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAA TTTGAAAAATAATTCCAAGGACTTCAATGATAAGCTCCCAA Direct Gain 0 0.959592238715488 0 0.960971832275391 prediction 0.919184477430975 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176756 chr5:112176756 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_86733 6 Benign Hereditary cancer-predisposing syndrome RCV000132160.2
3222 chr5 112176756 112176756 1 + T A rs459552 112176756 + 112176736 112176776 41 TTTGAAAAATAATTCCAAGGTCTTCAATGATAAGCTCCCAA TTTGAAAAATAATTCCAAGGACTTCAATGATAAGCTCCCAA Direct Gain 0 0.959592238715488 0 0.960971832275391 prediction 0.919184477430975 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176756 chr5:112176756 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_86733 6 Benign APC-Associated Polyposis Disorders RCV000358689.1
3223 chr3 15686298 15686298 1 + G A PRAD 15686298 + 15686278 15686318 41 TCTGGGGATGACAGGAAGTGGCATACACACCCCTCTGGAGT TCTGGGGATGACAGGAAGTGACATACACACCCCTCTGGAGT Direct Gain 0 0.946185363032759 0 0.92216968536377 prediction 0.892370726065518 Functional Gain - 21 BTD ENSG00000169814 CDS Human protein_coding chr3:15686298 chr3:15686298 nonsynonymous SNV 0.917 5 hm6A_associated_SNPs_86793 1 Pathogenic Biotinidase deficiency RCV000021977.1
3224 chr5 112179359 112179359 1 + G A rs140868933 112179359 + 112179339 112179379 41 TTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGAT TTGACAGTGTTTCAGAAAAGACAAATCCAAACATTAAAGAT Direct Gain 0 0.934922951497823 0 0.991533517837524 prediction 0.869845902995646 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112179359 chr5:112179359 nonsynonymous SNV 0.995 1 hm6A_associated_SNPs_86886 3 Benign Hereditary cancer-predisposing syndrome RCV000115125.6
3225 chr5 112179359 112179359 1 + G A rs140868933 112179359 + 112179339 112179379 41 TTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGAT TTGACAGTGTTTCAGAAAAGACAAATCCAAACATTAAAGAT Direct Gain 0 0.934922951497823 0 0.991533517837524 prediction 0.869845902995646 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112179359 chr5:112179359 nonsynonymous SNV 0.995 1 hm6A_associated_SNPs_86886 3 Benign Familial adenomatous polyposis 1 RCV000122806.7
3226 chr5 112179359 112179359 1 + G A rs140868933 112179359 + 112179339 112179379 41 TTGACAGTGTTTCAGAAAAGGCAAATCCAAACATTAAAGAT TTGACAGTGTTTCAGAAAAGACAAATCCAAACATTAAAGAT Direct Gain 0 0.934922951497823 0 0.991533517837524 prediction 0.869845902995646 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112179359 chr5:112179359 nonsynonymous SNV 0.995 1 hm6A_associated_SNPs_86886 3 other not specified RCV000200966.5
3227 chrX 56591689 56591689 1 + G A rs142250604 56591689 + 56591669 56591709 41 TTAATGCAGATCCAGCAGGGGCTACAGACATTAGCCACTGA TTAATGCAGATCCAGCAGGGACTACAGACATTAGCCACTGA Direct Gain 0 0.919434055837996 0 0.998938024044037 prediction 0.838868111675991 Functional Gain - 21 UBQLN2 ENSG00000188021 CDS Human protein_coding chrX:56591689 chrX:56591689 synonymous SNV . 0 hm6A_associated_SNPs_87053 1 Likely benign Amyotrophic Lateral Sclerosis, Dominant RCV000336836.1
3228 chr2 149227911 149227911 1 + G A PCPG 149227911 + 149227891 149227931 41 TGGGATGCTCAGTCAGTCGGGCATGGCTTTAGGAAATTCCT TGGGATGCTCAGTCAGTCGGACATGGCTTTAGGAAATTCCT Direct Gain 0 0.907068728129273 0 0.921949863433838 prediction 0.814137456258547 Functional Gain - 21 MBD5 ENSG00000204406 CDS Human protein_coding chr2:149227911 chr2:149227911 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_87233 1 Uncertain significance not specified RCV000188096.3
3229 chr3 15686795 15686795 1 + G A rs181396238 15686795 + 15686775 15686815 41 GTGGACAGGAAATCACAGAGGCCACGGGGATATTTGAGTTT GTGGACAGGAAATCACAGAGACCACGGGGATATTTGAGTTT Direct Gain 0 0.889883714939132 0 0.592860996723175 prediction 0.779767429878264 Functional Gain - 21 BTD ENSG00000169814 CDS Human protein_coding chr3:15686795 chr3:15686795 nonsynonymous SNV 0.041 4 hm6A_associated_SNPs_87522 1 Pathogenic Biotinidase deficiency RCV000022034.1
3230 chr17 37884176 37884176 1 + C A rs55943169 37884176 + 37884156 37884196 41 TCCTCCTGCCTTCAGCCCAGCCTTCGACAACCTCTATTACT TCCTCCTGCCTTCAGCCCAGACTTCGACAACCTCTATTACT Direct Gain 0 0.884899634192538 0 0.995661616325378 prediction 0.769799268385077 Functional Gain - 21 ERBB2 ENSG00000141736 CDS Human protein_coding chr17:37884176 chr17:37884176 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_87628 1 not provided not specified RCV000120755.1
3231 chr6 106555347 106555347 1 + C A rs75859409 106555347 + 106555327 106555367 41 TCAAACAAGAAACAGTTGAACCAATGGATCCTTAAGATTTT TCAAACAAGAAACAGTTGAAACAATGGATCCTTAAGATTTT Direct Gain 0 0.880366969215211 0 0.988141655921936 prediction 0.760733938430421 Functional Gain - 21 PRDM1 ENSG00000057657 CDS Human protein_coding chr6:106555347 chr6:106555347 nonsynonymous SNV 0.999 2 hm6A_associated_SNPs_87726 1 not provided not specified RCV000121878.1
3232 chr1 949608 949608 1 + G A rs1921 949608 + 949588 949628 41 CAAATGCGACGAACCTCTGAGCATCCTGGTGAGGAATAACA CAAATGCGACGAACCTCTGAACATCCTGGTGAGGAATAACA Direct Gain 0 0.879336292590318 0 0.993044018745422 prediction 0.758672585180636 Functional Gain - 21 ISG15 ENSG00000187608 CDS Human protein_coding chr1:949608 chr1:949608 nonsynonymous SNV 0.829 0 hm6A_associated_SNPs_87749 1 Benign not specified RCV000455759.1
3233 chr12 46246611 46246611 1 + G A rs78712333 46246611 + 46246591 46246631 41 CAAGCACTGTAGCTAAAGTAGCAATAGAAAGTGCTGTTCAG CAAGCACTGTAGCTAAAGTAACAATAGAAAGTGCTGTTCAG Direct Gain 0 0.876847965036808 0 0.815972208976746 prediction 0.753695930073615 Functional Gain - 21 ARID2 ENSG00000189079 CDS Human protein_coding chr12:46246611 chr12:46246611 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_87805 1 not provided not specified RCV000120084.1
3234 chr16 14042032 14042032 1 + C A rs4986933 14042032 + 14042012 14042052 41 AAAAATGCCAGGGGTGAATGCCAAAAACTGCCGCTCCTTGA AAAAATGCCAGGGGTGAATGACAAAAACTGCCGCTCCTTGA Direct Gain 0 0.873733077537319 0 0.982776522636414 prediction 0.747466155074638 Functional Gain - 21 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042032 chr16:14042032 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_87888 4 not provided not specified RCV000120811.1
3235 chr16 14042032 14042032 1 + C A rs4986933 14042032 + 14042012 14042052 41 AAAAATGCCAGGGGTGAATGCCAAAAACTGCCGCTCCTTGA AAAAATGCCAGGGGTGAATGACAAAAACTGCCGCTCCTTGA Direct Gain 0 0.873733077537319 0 0.982776522636414 prediction 0.747466155074638 Functional Gain - 21 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042032 chr16:14042032 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_87888 4 Likely benign Cockayne syndrome RCV000476568.1
3236 chr16 14042032 14042032 1 + C A rs4986933 14042032 + 14042012 14042052 41 AAAAATGCCAGGGGTGAATGCCAAAAACTGCCGCTCCTTGA AAAAATGCCAGGGGTGAATGACAAAAACTGCCGCTCCTTGA Direct Gain 0 0.873733077537319 0 0.982776522636414 prediction 0.747466155074638 Functional Gain - 21 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042032 chr16:14042032 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_87888 4 Likely benign Fanconi anemia, complementation group Q RCV000476568.1
3237 chr16 14042032 14042032 1 + C A rs4986933 14042032 + 14042012 14042052 41 AAAAATGCCAGGGGTGAATGCCAAAAACTGCCGCTCCTTGA AAAAATGCCAGGGGTGAATGACAAAAACTGCCGCTCCTTGA Direct Gain 0 0.873733077537319 0 0.982776522636414 prediction 0.747466155074638 Functional Gain - 21 ERCC4 ENSG00000175595 CDS Human protein_coding chr16:14042032 chr16:14042032 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_87888 4 Likely benign Xeroderma pigmentosum, group F RCV000476568.1
3238 chr5 112179658 112179658 1 - C T SKCM 112179658 - 112179638 112179678 41 TCTGCGCTGCTTTTCCTAGGGCTTGGGTTGTAATTAAAAGG TCTGCGCTGCTTTTCCTAGGACTTGGGTTGTAATTAAAAGG Direct Gain 0 0.870529299131638 0 0.834831595420837 prediction 0.741058598263275 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112179658 chr5:112179658 synonymous SNV . 0 hm6A_associated_SNPs_87946 1 Likely benign Hereditary cancer-predisposing syndrome RCV000163713.1
3239 chr22 41572974 41572974 1 - C T rs148040990 41572974 - 41572954 41572994 41 TTCTGGCAGGATGGCAGTGAGCAATTGGCATTCCGACACTG TTCTGGCAGGATGGCAGTGAACAATTGGCATTCCGACACTG Direct Gain 0 0.869603336979143 0 0.756396055221558 prediction 0.739206673958286 Functional Gain - 21 EP300 ENSG00000100393 CDS Human protein_coding chr22:41572974 chr22:41572974 synonymous SNV . 0 hm6A_associated_SNPs_87966 1 Benign not specified RCV000177530.1
3240 chr15 40916632 40916632 1 + T A rs141726041 40916632 + 40916612 40916652 41 ACACTGCACAAAGATCAAGATCTGATTAAGGATCCACGAAA ACACTGCACAAAGATCAAGAACTGATTAAGGATCCACGAAA Direct Gain 0 0.868246833078596 0 0.987319588661194 prediction 0.736493666157192 Functional Gain - 21 KNL1 ENSG00000137812 CDS Human protein_coding chr15:40916632 chr15:40916632 nonsynonymous SNV 0.948 2 hm6A_associated_SNPs_88000 1 Likely benign not specified RCV000116571.2
3241 chr9 119460111 119460111 1 + G A rs534259071 119460111 + 119460091 119460131 41 ATGGAGTCCTTCACAGAAGAGCAGCTGCGTCCCAAGCTTCT ATGGAGTCCTTCACAGAAGAACAGCTGCGTCCCAAGCTTCT Direct Gain 0 0.867902553353443 0 0.971453189849854 prediction 0.735805106706886 Functional Gain - 21 TRIM32 ENSG00000119401 CDS Human protein_coding chr9:119460111 chr9:119460111 synonymous SNV . 0 hm6A_associated_SNPs_88010 1 Uncertain significance not specified RCV000315580.1
3242 chr5 112173588 112173588 1 - C T BLCA 112173588 - 112173568 112173608 41 AAGTTTCTGATAAGTGCTGAGCATCTAATTCTGCTTCTAGG AAGTTTCTGATAAGTGCTGAACATCTAATTCTGCTTCTAGG Direct Gain 0 0.866447380927865 0 0.00386470556259155 prediction 0.73289476185573 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173588 chr5:112173588 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_88053 3 Uncertain significance not provided RCV000034407.1
3243 chr5 112173588 112173588 1 - C T BLCA 112173588 - 112173568 112173608 41 AAGTTTCTGATAAGTGCTGAGCATCTAATTCTGCTTCTAGG AAGTTTCTGATAAGTGCTGAACATCTAATTCTGCTTCTAGG Direct Gain 0 0.866447380927865 0 0.00386470556259155 prediction 0.73289476185573 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173588 chr5:112173588 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_88053 3 Uncertain significance Familial adenomatous polyposis 1 RCV000199077.2
3244 chr5 112173588 112173588 1 - C T BLCA 112173588 - 112173568 112173608 41 AAGTTTCTGATAAGTGCTGAGCATCTAATTCTGCTTCTAGG AAGTTTCTGATAAGTGCTGAACATCTAATTCTGCTTCTAGG Direct Gain 0 0.866447380927865 0 0.00386470556259155 prediction 0.73289476185573 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173588 chr5:112173588 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_88053 3 Uncertain significance not specified RCV000235259.2
3245 chr11 86663296 86663296 1 + G A rs61735303 86663296 + 86663276 86663316 41 GGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCC GGGGGTTTTGTGAGGTAAGGACACCTCTTCATCACCTGGCC Direct Gain 0 0.866087322054109 0 0.268584549427032 prediction 0.732174644108218 Functional Gain - 21 FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663296 chr11:86663296 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_88069 2 Likely benign Familial exudative vitreoretinopathy RCV000368489.1
3246 chr11 86663296 86663296 1 + G A rs61735303 86663296 + 86663276 86663316 41 GGGGGTTTTGTGAGGTAAGGGCACCTCTTCATCACCTGGCC GGGGGTTTTGTGAGGTAAGGACACCTCTTCATCACCTGGCC Direct Gain 0 0.866087322054109 0 0.268584549427032 prediction 0.732174644108218 Functional Gain - 21 FZD4 ENSG00000174804 CDS Human protein_coding chr11:86663296 chr11:86663296 nonsynonymous SNV 0.991 1 hm6A_associated_SNPs_88069 2 Benign not specified RCV000455735.1
3247 chr1 26797391 26797391 1 + G A rs74698108 26797391 + 26797371 26797411 41 GAATCTGCCCTATGAGCGTGGCTGTTGAGTCCTGTCTCCTG GAATCTGCCCTATGAGCGTGACTGTTGAGTCCTGTCTCCTG Direct Gain 0 0.857341082094744 0 0.231637060642242 prediction 0.714682164189488 Functional Gain - 21 DHDDS ENSG00000117682 UTR3 Human protein_coding chr1:26797391 chr1:26797391 . . 0 hm6A_associated_SNPs_88285 1 Uncertain significance Retinitis Pigmentosa, Recessive RCV000304050.1
3248 chr6 144508310 144508310 1 + G A rs146949718 144508310 + 144508290 144508330 41 CAGATCGAGGACATGTTCGAGCAGGGTAAGTGGGACGTGTT CAGATCGAGGACATGTTCGAACAGGGTAAGTGGGACGTGTT Direct Gain 0 0.856953651136529 0 0.999995768070221 prediction 0.713907302273059 Functional Gain - 21 STX11 ENSG00000135604 CDS Human protein_coding chr6:144508310 chr6:144508310 synonymous SNV . 0 hm6A_associated_SNPs_88298 2 Likely benign not specified RCV000246627.1
3249 chr6 144508310 144508310 1 + G A rs146949718 144508310 + 144508290 144508330 41 CAGATCGAGGACATGTTCGAGCAGGGTAAGTGGGACGTGTT CAGATCGAGGACATGTTCGAACAGGGTAAGTGGGACGTGTT Direct Gain 0 0.856953651136529 0 0.999995768070221 prediction 0.713907302273059 Functional Gain - 21 STX11 ENSG00000135604 CDS Human protein_coding chr6:144508310 chr6:144508310 synonymous SNV . 0 hm6A_associated_SNPs_88298 2 Uncertain significance Familial hemophagocytic lymphohistiocytosis RCV000342649.1
3250 chr8 145583505 145583505 1 + C A rs117500243 145583505 + 145583485 145583525 41 TGTGGCCTTCTTAGCACTGGCCTTTGTGCTGGCACTGGCAT TGTGGCCTTCTTAGCACTGGACTTTGTGCTGGCACTGGCAT Direct Gain 0 0.856705405445821 0 0.974921226501465 prediction 0.713410810891641 Functional Gain - 21 SLC52A2 ENSG00000185803 CDS Human protein_coding chr8:145583505 chr8:145583505 nonsynonymous SNV 0.001 2 hm6A_associated_SNPs_88307 1 Uncertain significance not specified RCV000414334.1
3251 chr17 1631785 1631785 1 + G A rs151330612 1631785 + 1631765 1631805 41 AGCAGGAGGAGGTCACCGGGGCATCTGAGCTCACTCTGTCT AGCAGGAGGAGGTCACCGGGACATCTGAGCTCACTCTGTCT Direct Gain 0 0.855843141000346 0 0.940458595752716 prediction 0.711686282000691 Functional Gain - 21 WDR81 ENSG00000167716 CDS Human protein_coding chr17:1631785 chr17:1631785 nonsynonymous SNV 0.136 0 hm6A_associated_SNPs_88339 2 Uncertain significance not provided RCV000224591.1
3252 chr17 1631785 1631785 1 + G A rs151330612 1631785 + 1631765 1631805 41 AGCAGGAGGAGGTCACCGGGGCATCTGAGCTCACTCTGTCT AGCAGGAGGAGGTCACCGGGACATCTGAGCTCACTCTGTCT Direct Gain 0 0.855843141000346 0 0.940458595752716 prediction 0.711686282000691 Functional Gain - 21 WDR81 ENSG00000167716 CDS Human protein_coding chr17:1631785 chr17:1631785 nonsynonymous SNV 0.136 0 hm6A_associated_SNPs_88339 2 Uncertain significance not specified RCV000497825.1
3253 chr16 86601049 86601049 1 - C T rs138318843 86601049 - 86601029 86601069 41 CCGGAATAGACGCCCATGGGGCTGGCCATGCCGCCGTAGCT CCGGAATAGACGCCCATGGGACTGGCCATGCCGCCGTAGCT Direct Gain 0 0.853659953218928 0 0.983310401439667 prediction 0.707319906437857 Functional Gain - 21 FOXC2 ENSG00000176692 CDS Human protein_coding chr16:86601049 chr16:86601049 synonymous SNV . 0 hm6A_associated_SNPs_88404 1 Benign not specified RCV000249159.1
3254 chr16 89985918 89985918 1 + C A rs1805006 89985918 + 89985898 89985938 41 TGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGAGCAA TGCTGCCTGGCCTTGTCGGAACTGCTGGTGAGCGGGAGCAA Direct Gain 0 0.852968492209659 0 0.994944930076599 prediction 0.705936984419319 Functional Gain - 21 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985918 chr16:89985918 nonsynonymous SNV 0.816 4 hm6A_associated_SNPs_88427 3 other Cutaneous malignant melanoma 5 RCV000015380.5
3255 chr16 89985918 89985918 1 + C A rs1805006 89985918 + 89985898 89985938 41 TGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGAGCAA TGCTGCCTGGCCTTGTCGGAACTGCTGGTGAGCGGGAGCAA Direct Gain 0 0.852968492209659 0 0.994944930076599 prediction 0.705936984419319 Functional Gain - 21 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985918 chr16:89985918 nonsynonymous SNV 0.816 4 hm6A_associated_SNPs_88427 3 Likely benign Malignant Melanoma Susceptibility RCV000375124.1
3256 chr16 89985918 89985918 1 + C A rs1805006 89985918 + 89985898 89985938 41 TGCTGCCTGGCCTTGTCGGACCTGCTGGTGAGCGGGAGCAA TGCTGCCTGGCCTTGTCGGAACTGCTGGTGAGCGGGAGCAA Direct Gain 0 0.852968492209659 0 0.994944930076599 prediction 0.705936984419319 Functional Gain - 21 MC1R ENSG00000198211;ENSG00000258839 CDS Human other chr16:89985918 chr16:89985918 nonsynonymous SNV 0.816 4 hm6A_associated_SNPs_88427 3 Likely pathogenic not provided RCV000413549.1
3257 chr14 105180785 105180785 1 - C T rs34251364 105180785 - 105180765 105180805 41 CGGCCAGGCCCCCTCCAAGGGCTGGGGGCACTGGGGATCCT CGGCCAGGCCCCCTCCAAGGACTGGGGGCACTGGGGATCCT Direct Gain 0 0.826892046062714 0 0.995327651500702 prediction 0.653784092125429 Functional Gain - 21 INF2 ENSG00000203485 CDS Human protein_coding chr14:105180785 chr14:105180785 nonsynonymous SNV 0.010 1 hm6A_associated_SNPs_89201 2 Benign not specified RCV000244885.2
3258 chr14 105180785 105180785 1 - C T rs34251364 105180785 - 105180765 105180805 41 CGGCCAGGCCCCCTCCAAGGGCTGGGGGCACTGGGGATCCT CGGCCAGGCCCCCTCCAAGGACTGGGGGCACTGGGGATCCT Direct Gain 0 0.826892046062714 0 0.995327651500702 prediction 0.653784092125429 Functional Gain - 21 INF2 ENSG00000203485 CDS Human protein_coding chr14:105180785 chr14:105180785 nonsynonymous SNV 0.010 1 hm6A_associated_SNPs_89201 2 Benign Focal segmental glomerulosclerosis RCV000309175.1
3259 chr2 121747823 121747823 1 - C T rs146207623 121747823 - 121747803 121747843 41 GATCTGGCCGTAGTAGTAGAGCATGCTGTGGTCCGGGGCCC GATCTGGCCGTAGTAGTAGAACATGCTGTGGTCCGGGGCCC Direct Gain 0 0.824916005597898 0 0.795797109603882 prediction 0.649832011195795 Functional Gain - 21 GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747823 chr2:121747823 nonsynonymous SNV 0.963 1 hm6A_associated_SNPs_89265 3 Benign not specified RCV000174550.1
3260 chr2 121747823 121747823 1 - C T rs146207623 121747823 - 121747803 121747843 41 GATCTGGCCGTAGTAGTAGAGCATGCTGTGGTCCGGGGCCC GATCTGGCCGTAGTAGTAGAACATGCTGTGGTCCGGGGCCC Direct Gain 0 0.824916005597898 0 0.795797109603882 prediction 0.649832011195795 Functional Gain - 21 GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747823 chr2:121747823 nonsynonymous SNV 0.963 1 hm6A_associated_SNPs_89265 3 Likely benign Holoprosencephaly RCV000354924.1
3261 chr2 121747823 121747823 1 - C T rs146207623 121747823 - 121747803 121747843 41 GATCTGGCCGTAGTAGTAGAGCATGCTGTGGTCCGGGGCCC GATCTGGCCGTAGTAGTAGAACATGCTGTGGTCCGGGGCCC Direct Gain 0 0.824916005597898 0 0.795797109603882 prediction 0.649832011195795 Functional Gain - 21 GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747823 chr2:121747823 nonsynonymous SNV 0.963 1 hm6A_associated_SNPs_89265 3 Benign not provided RCV000438850.1
3262 chr2 207631461 207631461 1 + G A rs3762568 207631461 + 207631441 207631481 41 TGGAAGTGTTTCAGTGGAGAGCAAAATGAATAACAAAGCGG TGGAAGTGTTTCAGTGGAGAACAAAATGAATAACAAAGCGG Direct Gain 0 0.818912271995161 0 0.938301384449005 prediction 0.637824543990323 Functional Gain - 21 FASTKD2 ENSG00000118246 CDS Human protein_coding chr2:207631461 chr2:207631461 nonsynonymous SNV 0.307 1 hm6A_associated_SNPs_89446 1 Likely benign Cytochrome-c oxidase deficiency RCV000366277.1
3263 chr10 89692944 89692944 1 + G A HNSC 89692944 + 89692924 89692964 41 TGCATATTTATTACATCGGGGCAAATTTTTAAAGGCACAAG TGCATATTTATTACATCGGGACAAATTTTTAAAGGCACAAG Direct Gain 0 0.818383518522561 0 0.80731201171875 prediction 0.636767037045122 Functional Gain - 21 PTEN ENSG00000171862 CDS Human protein_coding chr10:89692944 chr10:89692944 nonsynonymous SNV 1.000 2 hm6A_associated_SNPs_89469 1 Uncertain significance Hereditary cancer-predisposing syndrome RCV000164666.1
3264 chr2 121747080 121747080 1 + G A rs114823319 121747080 + 121747060 121747100 41 CCTACAGGCTAGCCCTGGGGGCCTGGACAGCACGCAGCCAC CCTACAGGCTAGCCCTGGGGACCTGGACAGCACGCAGCCAC Direct Gain 0 0.81482152109782 0 0.993736028671265 prediction 0.629643042195639 Functional Gain - 21 GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747080 chr2:121747080 nonsynonymous SNV 0.253 0 hm6A_associated_SNPs_89573 3 Benign not specified RCV000174543.1
3265 chr2 121747080 121747080 1 + G A rs114823319 121747080 + 121747060 121747100 41 CCTACAGGCTAGCCCTGGGGGCCTGGACAGCACGCAGCCAC CCTACAGGCTAGCCCTGGGGACCTGGACAGCACGCAGCCAC Direct Gain 0 0.81482152109782 0 0.993736028671265 prediction 0.629643042195639 Functional Gain - 21 GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747080 chr2:121747080 nonsynonymous SNV 0.253 0 hm6A_associated_SNPs_89573 3 Likely benign Holoprosencephaly RCV000279331.1
3266 chr2 121747080 121747080 1 + G A rs114823319 121747080 + 121747060 121747100 41 CCTACAGGCTAGCCCTGGGGGCCTGGACAGCACGCAGCCAC CCTACAGGCTAGCCCTGGGGACCTGGACAGCACGCAGCCAC Direct Gain 0 0.81482152109782 0 0.993736028671265 prediction 0.629643042195639 Functional Gain - 21 GLI2 ENSG00000074047 CDS Human protein_coding chr2:121747080 chr2:121747080 nonsynonymous SNV 0.253 0 hm6A_associated_SNPs_89573 3 Likely benign not provided RCV000429329.1
3267 chr14 29237297 29237297 1 + G A STAD 29237297 + 29237277 29237317 41 GTTCATCGGCGGCACCACGGGCAAGCTGCGGCGCCGCTCCA GTTCATCGGCGGCACCACGGACAAGCTGCGGCGCCGCTCCA Direct Gain 0 0.812631756361883 0 0.99999725818634 prediction 0.625263512723766 Functional Gain - 21 FOXG1 ENSG00000176165 CDS Human protein_coding chr14:29237297 chr14:29237297 nonsynonymous SNV 0.998 4 hm6A_associated_SNPs_89650 1 Likely pathogenic not provided RCV000187466.1
3268 chr9 98231061 98231061 1 + G A rs2227971 98231061 + 98231041 98231081 41 TTGGTTTCAAGAGGAAAGGAGCATAGTGCTTCTCAGCAAAA TTGGTTTCAAGAGGAAAGGAACATAGTGCTTCTCAGCAAAA Direct Gain 0 0.803420551725183 0 0.531434535980225 prediction 0.606841103450366 Functional Gain - 21 PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231061 chr9:98231061 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_89940 2 Benign not specified RCV000121885.2
3269 chr9 98231061 98231061 1 + G A rs2227971 98231061 + 98231041 98231081 41 TTGGTTTCAAGAGGAAAGGAGCATAGTGCTTCTCAGCAAAA TTGGTTTCAAGAGGAAAGGAACATAGTGCTTCTCAGCAAAA Direct Gain 0 0.803420551725183 0 0.531434535980225 prediction 0.606841103450366 Functional Gain - 21 PTCH1 ENSG00000185920 CDS Human protein_coding chr9:98231061 chr9:98231061 nonsynonymous SNV 0.996 2 hm6A_associated_SNPs_89940 2 Benign Gorlin syndrome RCV000123008.6
3270 chr16 88502874 88502874 1 - G T rs273585625 88502874 - 88502854 88502894 41 CAGGGGCCGGCATCTCCAGGCCTCGCCAAGCCGCTGGGACC CAGGGGCCGGCATCTCCAGGACTCGCCAAGCCGCTGGGACC Direct Gain 0 0.801436546638468 0 0.946939170360565 prediction 0.602873093276937 Functional Gain - 21 ZNF469 ENSG00000225614 CDS Human protein_coding chr16:88502874 chr16:88502874 nonsynonymous SNV 0.041 2 hm6A_associated_SNPs_89994 1 Pathogenic Keratoconus 1 RCV000114788.1
3271 chr5 112176926 112176926 1 - G T COAD 112176926 - 112176906 112176946 41 TTTTGCCTTTCTTAATTCAGCCTTTTCCCTGGAAAGGTCAA TTTTGCCTTTCTTAATTCAGACTTTTCCCTGGAAAGGTCAA Direct Gain 0 0.796372380771892 0 0.824293971061707 prediction 0.592744761543784 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176926 chr5:112176926 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_90161 2 Uncertain significance not specified RCV000115105.5
3272 chr5 112176926 112176926 1 - G T COAD 112176926 - 112176906 112176946 41 TTTTGCCTTTCTTAATTCAGCCTTTTCCCTGGAAAGGTCAA TTTTGCCTTTCTTAATTCAGACTTTTCCCTGGAAAGGTCAA Direct Gain 0 0.796372380771892 0 0.824293971061707 prediction 0.592744761543784 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112176926 chr5:112176926 nonsynonymous SNV 1.000 3 hm6A_associated_SNPs_90161 2 Uncertain significance Familial adenomatous polyposis 1 RCV000204622.3
3273 chr5 112173250 112173250 1 + G A rs72541809 112173250 + 112173230 112173270 41 ATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAA ATCTCTTGATTTTATTTCAGACAAATCCTAAGAGAGAACAA Direct Gain 0 0.793137098026612 0 0.0359238088130951 prediction 0.586274196053223 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173250 chr5:112173250 synonymous SNV . 0 hm6A_associated_SNPs_90263 5 other not specified RCV000120034.2
3274 chr5 112173250 112173250 1 + G A rs72541809 112173250 + 112173230 112173270 41 ATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAA ATCTCTTGATTTTATTTCAGACAAATCCTAAGAGAGAACAA Direct Gain 0 0.793137098026612 0 0.0359238088130951 prediction 0.586274196053223 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173250 chr5:112173250 synonymous SNV . 0 hm6A_associated_SNPs_90263 5 Benign Hereditary cancer-predisposing syndrome RCV000128958.4
3275 chr5 112173250 112173250 1 + G A rs72541809 112173250 + 112173230 112173270 41 ATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAA ATCTCTTGATTTTATTTCAGACAAATCCTAAGAGAGAACAA Direct Gain 0 0.793137098026612 0 0.0359238088130951 prediction 0.586274196053223 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173250 chr5:112173250 synonymous SNV . 0 hm6A_associated_SNPs_90263 5 Benign Familial adenomatous polyposis 1 RCV000200716.4
3276 chr5 112173250 112173250 1 + G A rs72541809 112173250 + 112173230 112173270 41 ATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAA ATCTCTTGATTTTATTTCAGACAAATCCTAAGAGAGAACAA Direct Gain 0 0.793137098026612 0 0.0359238088130951 prediction 0.586274196053223 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173250 chr5:112173250 synonymous SNV . 0 hm6A_associated_SNPs_90263 5 Benign Familial multiple polyposis syndrome RCV000239214.1
3277 chr5 112173250 112173250 1 + G A rs72541809 112173250 + 112173230 112173270 41 ATCTCTTGATTTTATTTCAGGCAAATCCTAAGAGAGAACAA ATCTCTTGATTTTATTTCAGACAAATCCTAAGAGAGAACAA Direct Gain 0 0.793137098026612 0 0.0359238088130951 prediction 0.586274196053223 Functional Gain - 21 APC ENSG00000134982 CDS Human protein_coding chr5:112173250 chr5:112173250 synonymous SNV . 0 hm6A_associated_SNPs_90263 5 Likely benign APC-Associated Polyposis Disorders RCV000340009.1
3278 chr7 116339792 116339792 1 + G A rs35284565 116339792 + 116339772 116339812 41 CATTCGATATCAGTGAGAAGGCTAAAGGAAACGAAAGATGG CATTCGATATCAGTGAGAAGACTAAAGGAAACGAAAGATGG Direct Gain 0 0.784751046984174 0 0.991854071617126 prediction 0.569502093968348 Functional Gain - 21 MET ENSG00000105976 CDS Human protein_coding chr7:116339792 chr7:116339792 synonymous SNV . 0 hm6A_associated_SNPs_90541 2 Benign not specified RCV000079498.4
3279 chr7 116339792 116339792 1 + G A rs35284565 116339792 + 116339772 116339812 41 CATTCGATATCAGTGAGAAGGCTAAAGGAAACGAAAGATGG CATTCGATATCAGTGAGAAGACTAAAGGAAACGAAAGATGG Direct Gain 0 0.784751046984174 0 0.991854071617126 prediction 0.569502093968348 Functional Gain - 21 MET ENSG00000105976 CDS Human protein_coding chr7:116339792 chr7:116339792 synonymous SNV . 0 hm6A_associated_SNPs_90541 2 Benign Renal cell carcinoma, papillary, 1 RCV000199168.4
3280 chrX 110961469 110961469 1 - C T UCEC 110961469 - 110961449 110961489 41 AACTCTTGTAATCAGTATGGGCATCCTCGCTTCCAGTTACA AACTCTTGTAATCAGTATGGACATCCTCGCTTCCAGTTACA Direct Gain 0 0.78436514630418 0 0.699742794036865 prediction 0.568730292608359 Functional Gain - 21 ALG13 ENSG00000101901 CDS Human protein_coding chrX:110961469 chrX:110961469 nonsynonymous SNV 0.001 0 hm6A_associated_SNPs_90552 1 Uncertain significance not specified RCV000420228.1
3281 chr11 67257823 67257823 1 + C A rs641081 67257821 + 67257801 67257841 41 CCCTGAATGGATCCAGCTGGACCAGCAGATCACGCCGCTGC CCCTGAATGGATCCAGCTGGACAAGCAGATCACGCCGCTGC < 41bp 0.54851847536156 0.87600945835187 0.91405123 0.983523011207581 prediction 0.654981965980619 Functional Gain - 23 AIP ENSG00000110711 CDS Human protein_coding chr11:67257821 chr11:67257823 nonsynonymous SNV 0.068 0 hm6A_associated_SNPs_90732 2 Benign not specified RCV000253961.2
3282 chr11 67257823 67257823 1 + C A rs641081 67257821 + 67257801 67257841 41 CCCTGAATGGATCCAGCTGGACCAGCAGATCACGCCGCTGC CCCTGAATGGATCCAGCTGGACAAGCAGATCACGCCGCTGC < 41bp 0.54851847536156 0.87600945835187 0.91405123 0.983523011207581 prediction 0.654981965980619 Functional Gain - 23 AIP ENSG00000110711 CDS Human protein_coding chr11:67257821 chr11:67257823 nonsynonymous SNV 0.068 0 hm6A_associated_SNPs_90732 2 Benign Familial Isolated Pituitary Adenomas RCV000385512.1
3283 chr2 48030692 48030692 1 + T A rs2020910 48030690 + 48030670 48030710 41 GCCATCCTTGCATTACGAAGACTTTTTTTGGAGATGATTTT GCCATCCTTGCATTACGAAGACATTTTTTGGAGATGATTTT < 41bp 0.520750287404622 0.8417455393191 0.3240996 0.889006495475769 prediction 0.641990503828955 Functional Gain - 23 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48030690 chr2:48030692 synonymous SNV . 0 hm6A_associated_SNPs_90742 3 Benign Lynch syndrome RCV000030267.4
3284 chr2 48030692 48030692 1 + T A rs2020910 48030690 + 48030670 48030710 41 GCCATCCTTGCATTACGAAGACTTTTTTTGGAGATGATTTT GCCATCCTTGCATTACGAAGACATTTTTTGGAGATGATTTT < 41bp 0.520750287404622 0.8417455393191 0.3240996 0.889006495475769 prediction 0.641990503828955 Functional Gain - 23 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48030690 chr2:48030692 synonymous SNV . 0 hm6A_associated_SNPs_90742 3 Benign not specified RCV000078313.7
3285 chr2 48030692 48030692 1 + T A rs2020910 48030690 + 48030670 48030710 41 GCCATCCTTGCATTACGAAGACTTTTTTTGGAGATGATTTT GCCATCCTTGCATTACGAAGACATTTTTTGGAGATGATTTT < 41bp 0.520750287404622 0.8417455393191 0.3240996 0.889006495475769 prediction 0.641990503828955 Functional Gain - 23 MSH6 ENSG00000116062 CDS Human protein_coding chr2:48030690 chr2:48030692 synonymous SNV . 0 hm6A_associated_SNPs_90742 3 Benign Hereditary cancer-predisposing syndrome RCV000162391.1
3286 chr4 39226605 39226605 1 + C A rs114689848 39226603 + 39226583 39226623 41 TTTTTCCCGACCCAAATGGGACCAGATTAGTTTTCATTGAT TTTTTCCCGACCCAAATGGGACAAGATTAGTTTTCATTGAT < 41bp 0.276760517635668 0.804487393982532 0.089532405 0.78326404094696 prediction 0.608974787965063 Functional Gain - 23 WDR19 ENSG00000157796 CDS Human protein_coding chr4:39226603 chr4:39226605 synonymous SNV . 0 hm6A_associated_SNPs_90781 1 Benign not specified RCV000253150.1
3287 chr5 112175936 112175936 1 + C T COAD 112175934 + 112175914 112175954 41 GCCTAAAGAATCAAATGAAAACCAAGAGAAAGAGGCAGAAA GCCTAAAGAATCAAATGAAAACTAAGAGAAAGAGGCAGAAA < 41bp 0.51719717223917 0.813330933242622 0.98890686 0.998805046081543 prediction 0.592267522006904 Functional Gain - 23 APC ENSG00000134982 CDS Human protein_coding chr5:112175934 chr5:112175936 stopgain 1.000 0 hm6A_associated_SNPs_90801 1 Pathogenic not provided RCV000202166.1
3288 chr6 157527679 157527679 1 + C T CESC 157527677 + 157527657 157527697 41 GAACAACCTGTTTGTTGTTGACCGATCTGACAAGTTGGGGC GAACAACCTGTTTGTTGTTGACTGATCTGACAAGTTGGGGC < 41bp 0.496973990740113 0.795553732860749 0.99662966 0.999930322170258 prediction 0.591107465721498 Functional Gain - 23 ARID1B ENSG00000049618 CDS Human protein_coding chr6:157527677 chr6:157527679 stopgain 0.902 1 hm6A_associated_SNPs_90802 1 Pathogenic Mental retardation, autosomal dominant 12 RCV000193164.1
3289 chr2 32379584 32379584 1 + C T rs558483397 32379582 + 32379562 32379602 41 TTAAGGAAATACCTTTGTAAACCTGCAGAACATTTTACTTA TTAAGGAAATACCTTTGTAAACTTGCAGAACATTTTACTTA < 41bp 0.510232351517557 0.799229273458715 0.9150828 0.992196440696716 prediction 0.577993843882316 Functional Gain - 23 SPAST ENSG00000021574 UTR3 Human protein_coding chr2:32379582 chr2:32379584 . . 0 hm6A_associated_SNPs_90826 1 Likely benign Spastic Paraplegia, Dominant RCV000392093.1
3290 chr5 167924260 167924260 1 + C A rs11557637 167924258 + 167924238 167924278 41 ATCATGTAGGAGACTGGGGGACCCAGTTTGGCATGCTCATC ATCATGTAGGAGACTGGGGGACACAGTTTGGCATGCTCATC < 41bp 0.281557430840923 0.76651413773523 0.022162199 0.00557142496109009 prediction 0.53302827547046 Functional Gain - 23 RARS ENSG00000113643 CDS Human protein_coding chr5:167924258 chr5:167924260 synonymous SNV . 0 hm6A_associated_SNPs_90941 1 Benign not specified RCV000430829.1
3291 chr10 69926319 69926319 1 + C A rs61854624 69926317 + 69926297 69926337 41 GTGTGGTGACCACCAGACAGACCAGGCCCGATTCTTTCCAG GTGTGGTGACCACCAGACAGACAAGGCCCGATTCTTTCCAG < 41bp 0.465131078498443 0.764143308161071 0.936885 0.982264459133148 prediction 0.528286616322142 Functional Gain - 23 MYPN ENSG00000138347 CDS Human protein_coding chr10:69926317 chr10:69926319 synonymous SNV . 0 hm6A_associated_SNPs_90958 3 not provided not provided RCV000024496.3
3292 chr10 69926319 69926319 1 + C A rs61854624 69926317 + 69926297 69926337 41 GTGTGGTGACCACCAGACAGACCAGGCCCGATTCTTTCCAG GTGTGGTGACCACCAGACAGACAAGGCCCGATTCTTTCCAG < 41bp 0.465131078498443 0.764143308161071 0.936885 0.982264459133148 prediction 0.528286616322142 Functional Gain - 23 MYPN ENSG00000138347 CDS Human protein_coding chr10:69926317 chr10:69926319 synonymous SNV . 0 hm6A_associated_SNPs_90958 3 Benign not specified RCV000180999.2
3293 chr10 69926319 69926319 1 + C A rs61854624 69926317 + 69926297 69926337 41 GTGTGGTGACCACCAGACAGACCAGGCCCGATTCTTTCCAG GTGTGGTGACCACCAGACAGACAAGGCCCGATTCTTTCCAG < 41bp 0.465131078498443 0.764143308161071 0.936885 0.982264459133148 prediction 0.528286616322142 Functional Gain - 23 MYPN ENSG00000138347 CDS Human protein_coding chr10:69926317 chr10:69926319 synonymous SNV . 0 hm6A_associated_SNPs_90958 3 Benign Cardiovascular phenotype RCV000242510.1
3294 chr2 224828496 224828496 1 + T A rs75696641 224828494 + 224828474 224828514 41 ACTTCTTAATTACTCAAATGACTGGAAAAGAGCTCTTTGAG ACTTCTTAATTACTCAAATGACAGGAAAAGAGCTCTTTGAG < 41bp 0.608361953696239 0.848907338676046 0.60188365 0.866350531578064 prediction 0.481090769959615 Functional Gain - 23 MRPL44 ENSG00000135900 CDS Human protein_coding chr2:224828494 chr2:224828496 synonymous SNV . 0 hm6A_associated_SNPs_91178 1 Benign not specified RCV000126802.1
3295 chr9 4585316 4585316 1 + C T SKCM 4585314 + 4585294 4585334 41 CCTCCCGTCTCTCCCCAGGGACCGGTTCAGGACCATGGTCA CCTCCCGTCTCTCCCCAGGGACTGGTTCAGGACCATGGTCA < 41bp 0.452819056968593 0.738320512625494 0.81765795 0.944143056869507 prediction 0.476641025250988 Functional Gain - 23 SLC1A1 ENSG00000106688 CDS Human protein_coding chr9:4585314 chr9:4585316 nonsynonymous SNV 1.000 4 hm6A_associated_SNPs_91200 1 Pathogenic Dicarboxylic aminoaciduria RCV000143976.3
3296 chr16 2551795 2551795 1 + C T rs4075480 2551793 + 2551773 2551813 41 GCCCTCAGGGACCGACCCAGACCAGCAAGCTCCATTTCCAG GCCCTCAGGGACCGACCCAGACTAGCAAGCTCCATTTCCAG < 41bp 0.563401135815676 0.80019811688275 0.33218193 0.505139052867889 prediction 0.473593962134147 Functional Gain - 23 TBC1D24 ENSG00000162065 UTR3 Human protein_coding chr16:2551793 chr16:2551795 . . 0 hm6A_associated_SNPs_91221 1 Likely benign Myoclonic epilepsy, familial infantile RCV000269366.1
3297 chr9 136324239 136324239 1 + C A rs1055432 136324237 + 136324217 136324257 41 GCCTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCG GCCTGCGGGGCCAGTACTGGACACTCCAATCATGGGTACCG < 41bp 0.578913820650429 0.808816722803512 0.39437237 0.919694185256958 prediction 0.459805804306165 Functional Gain - 23 ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136324237 chr9:136324239 synonymous SNV . 0 hm6A_associated_SNPs_91286 2 Benign not specified RCV000244372.1
3298 chr9 136324239 136324239 1 + C A rs1055432 136324237 + 136324217 136324257 41 GCCTGCGGGGCCAGTACTGGACCCTCCAATCATGGGTACCG GCCTGCGGGGCCAGTACTGGACACTCCAATCATGGGTACCG < 41bp 0.578913820650429 0.808816722803512 0.39437237 0.919694185256958 prediction 0.459805804306165 Functional Gain - 23 ADAMTS13 ENSG00000160323 CDS Human protein_coding chr9:136324237 chr9:136324239 synonymous SNV . 0 hm6A_associated_SNPs_91286 2 Benign Upshaw-Schulman syndrome RCV000359569.1
3299 chr5 176638614 176638614 1 + C T HNSC 176638612 + 176638592 176638632 41 TGATGCTGTACTGCAGGGAGACCGAGAACGTGGAGGTTCAT TGATGCTGTACTGCAGGGAGACTGAGAACGTGGAGGTTCAT < 41bp 0.622749272092153 0.846538408165208 0.96982634 0.998741984367371 prediction 0.44757827214611 Functional Gain - 23 NSD1 ENSG00000165671 CDS Human protein_coding chr5:176638612 chr5:176638614 stopgain 0.112 0 hm6A_associated_SNPs_91349 1 Pathogenic Sotos syndrome 1 RCV000146805.1
3300 chr1 12072783 12072783 1 + C A rs115706485 12072781 + 12072761 12072801 41 ATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGA ATCTCCAGAACCTTCGACTGACACCCTTGTCTTTATGCTGA < 41bp 0.467804333627424 0.722672974340473 0.24595362 0.386714249849319 prediction 0.445345948680946 Functional Gain - 23 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072781 chr1:12072783 . . 0 hm6A_associated_SNPs_91361 2 Likely benign Charcot-Marie-Tooth, Type 2 RCV000299387.1
3301 chr1 12072783 12072783 1 + C A rs115706485 12072781 + 12072761 12072801 41 ATCTCCAGAACCTTCGACTGACCCCCTTGTCTTTATGCTGA ATCTCCAGAACCTTCGACTGACACCCTTGTCTTTATGCTGA < 41bp 0.467804333627424 0.722672974340473 0.24595362 0.386714249849319 prediction 0.445345948680946 Functional Gain - 23 MFN2 ENSG00000116688 UTR3 Human protein_coding chr1:12072781 chr1:12072783 . . 0 hm6A_associated_SNPs_91361 2 Likely benign Hereditary motor and sensory neuropathy RCV000358837.1
3302 chr4 663916 663916 1 + C A rs61760239 663914 + 663894 663934 41 TGAGCACTGGTCCCATGGGGACCCTATGGCTCCCTCAATCT TGAGCACTGGTCCCATGGGGACACTATGGCTCCCTCAATCT < 41bp 0.626183509557245 0.831798175347955 0.043647975 0.0334657728672028 prediction 0.41122933158142 Functional Gain - 23 PDE6B ENSG00000133256 CDS Human protein_coding chr4:663914 chr4:663916 unknown . 0 hm6A_associated_SNPs_91565 2 Benign Congenital Stationary Night Blindness, Dominant RCV000335295.1
3303 chr4 663916 663916 1 + C A rs61760239 663914 + 663894 663934 41 TGAGCACTGGTCCCATGGGGACCCTATGGCTCCCTCAATCT TGAGCACTGGTCCCATGGGGACACTATGGCTCCCTCAATCT < 41bp 0.626183509557245 0.831798175347955 0.043647975 0.0334657728672028 prediction 0.41122933158142 Functional Gain - 23 PDE6B ENSG00000133256 CDS Human protein_coding chr4:663914 chr4:663916 unknown . 0 hm6A_associated_SNPs_91565 2 Benign Retinitis Pigmentosa, Recessive RCV000407733.1
3304 chr2 65248050 65248050 1 + C T LGG 65248048 + 65248028 65248068 41 CTCTTCTTTTCCCACCAGGGACCGGACCACCACGGTGGTGA CTCTTCTTTTCCCACCAGGGACTGGACCACCACGGTGGTGA < 41bp 0.623851801062377 0.828151291839284 0.8677243 0.986560881137848 prediction 0.408598981553814 Functional Gain - 23 SLC1A4 ENSG00000115902 CDS Human protein_coding chr2:65248048 chr2:65248050 nonsynonymous SNV 0.988 4 hm6A_associated_SNPs_91590 2 Pathogenic Spastic tetraplegia, thin corpus callosum, and progressive microcephaly RCV000412526.1
3305 chr2 65248050 65248050 1 + C T LGG 65248048 + 65248028 65248068 41 CTCTTCTTTTCCCACCAGGGACCGGACCACCACGGTGGTGA CTCTTCTTTTCCCACCAGGGACTGGACCACCACGGTGGTGA < 41bp 0.623851801062377 0.828151291839284 0.8677243 0.986560881137848 prediction 0.408598981553814 Functional Gain - 23 SLC1A4 ENSG00000115902 CDS Human protein_coding chr2:65248048 chr2:65248050 nonsynonymous SNV 0.988 4 hm6A_associated_SNPs_91590 2 Likely pathogenic not provided RCV000436990.1
3306 chr21 47786997 47786997 1 + C T rs182694054 47786995 + 47786975 47787015 41 CTGTGCGGGACCACCTGCGAACCGAAGTGAGCACAGAGCTC CTGTGCGGGACCACCTGCGAACTGAAGTGAGCACAGAGCTC < 41bp 0.634246247537841 0.838538138342164 0.9562663 0.997388362884521 prediction 0.408583781608647 Functional Gain - 23 PCNT ENSG00000160299 CDS Human protein_coding chr21:47786995 chr21:47786997 synonymous SNV . 0 hm6A_associated_SNPs_91591 1 Likely benign not specified RCV000429843.1
3307 chr7 157208795 157208795 1 + C T rs140445215 157208793 + 157208773 157208813 41 CGACCAAAGGCAATCACTAGACCGGACTTGAGGCACGCGGT CGACCAAAGGCAATCACTAGACTGGACTTGAGGCACGCGGT < 41bp 0.697798834267998 0.900016150204768 0.770206 0.974926590919495 prediction 0.404434631873539 Functional Gain - 23 DNAJB6 ENSG00000105993 UTR3 Human protein_coding chr7:157208793 chr7:157208795 . . 0 hm6A_associated_SNPs_91614 1 Uncertain significance not specified RCV000339060.1