Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 1 92568096 92568096 + Missense_Mutation SNP G G T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr1:92568096G>T c.414G>T c.(412-414)atG>atT p.M138I BLCA 1 92554305 92554305 + Missense_Mutation SNP C C T TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr1:92554305C>T c.200C>T c.(199-201)aCt>aTt p.T67I BLCA 1 92568029 92568029 + Splice_Site SNP G G C TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr1:92568029G>C c.e3-1 BLCA 1 92595329 92595329 + Missense_Mutation SNP C C G TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr1:92595329C>G c.748C>G c.(748-750)Caa>Gaa p.Q250E BLCA 1 92613275 92613275 + Nonsense_Mutation SNP G G T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr1:92613275G>T c.1054G>T c.(1054-1056)Gag>Tag p.E352* BLCA 1 92613277 92613277 + Silent SNP G G A TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr1:92613277G>A c.1056G>A c.(1054-1056)gaG>gaA p.E352E CESC 1 92554440 92554440 + Missense_Mutation SNP G G C TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr1:92554440G>C c.335G>C c.(334-336)aGa>aCa p.R112T CESC 1 92613279 92613279 + Missense_Mutation SNP G G T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr1:92613279G>T c.1058G>T c.(1057-1059)aGa>aTa p.R353I CHOL 1 92573559 92573559 + Splice_Site SNP G G T TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr1:92573559G>T c.e4+1 COAD 1 92554375 92554375 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:92554375G>A c.270G>A c.(268-270)caG>caA p.Q90Q COAD 1 92554417 92554417 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:92554417G>T c.312G>T c.(310-312)gaG>gaT p.E104D COADREAD 1 92554375 92554375 + Silent SNP G G A TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:92554375G>A c.270G>A c.(268-270)caG>caA p.Q90Q COADREAD 1 92554417 92554417 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:92554417G>T c.312G>T c.(310-312)gaG>gaT p.E104D COADREAD 1 92612764 92612764 + Missense_Mutation SNP C C A TCGA-AG-A015-01A-01W-A005-10 TCGA-AG-A015-10A-01W-A005-10 g.chr1:92612764C>A c.958C>A c.(958-960)Cta>Ata p.L320I DLBC 1 92554283 92554283 + Missense_Mutation SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chr1:92554283G>A c.178G>A c.(178-180)Gtt>Att p.V60I ESCA 1 92573557 92573557 + Splice_Site SNP A A T TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr1:92573557A>T c.661A>T c.(661-663)Agg>Tgg p.R221W GBMLGG 1 92546168 92546168 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr1:92546168C>T c.40C>T c.(40-42)Ctt>Ttt p.L14F GBMLGG 1 92606709 92606709 + Nonsense_Mutation SNP G G T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr1:92606709G>T c.871G>T c.(871-873)Gga>Tga p.G291* GBMLGG 1 92612769 92612769 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:92612769A>G c.963A>G c.(961-963)gaA>gaG p.E321E HNSC 1 92568216 92568216 + Silent SNP C C T TCGA-CV-A45O-01A-21D-A24D-08 TCGA-CV-A45O-10A-01D-A24F-08 g.chr1:92568216C>T c.534C>T c.(532-534)ttC>ttT p.F178F HNSC 1 92568216 92568216 + Silent SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr1:92568216C>T c.534C>T c.(532-534)ttC>ttT p.F178F HNSC 1 92595302 92595302 + Missense_Mutation SNP G G A TCGA-F7-A623-01A-11D-A28R-08 TCGA-F7-A623-10A-01D-A28U-08 g.chr1:92595302G>A c.721G>A c.(721-723)Gaa>Aaa p.E241K HNSC 1 92604948 92604948 + Missense_Mutation SNP A A G TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 g.chr1:92604948A>G c.794A>G c.(793-795)tAt>tGt p.Y265C HNSC 1 92604962 92604962 + Missense_Mutation SNP G G T TCGA-F7-A61W-01A-11D-A28R-08 TCGA-F7-A61W-10A-01D-A28U-08 g.chr1:92604962G>T c.808G>T c.(808-810)Gac>Tac p.D270Y HNSC 1 92612785 92612785 + Missense_Mutation SNP C C T TCGA-P3-A5Q5-01A-11D-A28R-08 TCGA-P3-A5Q5-10A-01D-A28U-08 g.chr1:92612785C>T c.979C>T c.(979-981)Cat>Tat p.H327Y HNSC 1 92613293 92613293 + Frame_Shift_Del DEL A A - TCGA-D6-8568-01A-11D-2394-08 TCGA-D6-8568-10A-01D-2394-08 g.chr1:92613293delA c.1072delA c.(1072-1074)atafs p.I358fs HNSC 1 92613302 92613302 + Missense_Mutation SNP G G C TCGA-CV-7099-01A-41D-2012-08 TCGA-CV-7099-10A-01D-2013-08 g.chr1:92613302G>C c.1081G>C c.(1081-1083)Gag>Cag p.E361Q KIPAN 1 92554272 92554272 + Missense_Mutation SNP T T G TCGA-EU-5905-01A-11D-1669-08 TCGA-EU-5905-10A-01D-1669-08 g.chr1:92554272T>G c.167T>G c.(166-168)tTc>tGc p.F56C KIPAN 1 92612759 92612759 + Missense_Mutation SNP C C G TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr1:92612759C>G c.953C>G c.(952-954)tCt>tGt p.S318C KIRC 1 92554272 92554272 + Missense_Mutation SNP T T G TCGA-EU-5905-01A-11D-1669-08 TCGA-EU-5905-10A-01D-1669-08 g.chr1:92554272T>G c.167T>G c.(166-168)tTc>tGc p.F56C KIRP 1 92612759 92612759 + Missense_Mutation SNP C C G TCGA-B9-5155-01A-01D-1589-08 TCGA-B9-5155-10A-01D-1589-08 g.chr1:92612759C>G c.953C>G c.(952-954)tCt>tGt p.S318C LAML 1 92612781 92612781 + Silent SNP T T A TCGA-AB-2994-03A-01D-0739-09 TCGA-AB-2994-11A-01D-0739-09 g.chr1:92612781T>A c.975T>A c.(973-975)atT>atA p.I325I LGG 1 92546168 92546168 + Missense_Mutation SNP C C T TCGA-DB-5274-01A-01D-1468-08 TCGA-DB-5274-10A-01D-1468-08 g.chr1:92546168C>T c.40C>T c.(40-42)Ctt>Ttt p.L14F LGG 1 92606709 92606709 + Nonsense_Mutation SNP G G T TCGA-DU-8158-01A-11D-2253-08 TCGA-DU-8158-10A-01D-2253-08 g.chr1:92606709G>T c.871G>T c.(871-873)Gga>Tga p.G291* LGG 1 92612769 92612769 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:92612769A>G c.963A>G c.(961-963)gaA>gaG p.E321E LIHC 1 92554445 92554445 + Frame_Shift_Del DEL T T - TCGA-G3-A7M5-01A-11D-A33Q-10 TCGA-G3-A7M5-10A-01D-A33Q-10 g.chr1:92554445delT c.340delT c.(340-342)tttfs p.F114fs LIHC 1 92568057 92568057 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr1:92568057delA c.375delA c.(373-375)atafs p.I125fs LUAD 1 92554427 92554427 + Missense_Mutation SNP G G C TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr1:92554427G>C c.322G>C c.(322-324)Gct>Cct p.A108P LUAD 1 92554451 92554451 + Splice_Site SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr1:92554451C>T c.346C>T c.(346-348)Cag>Tag p.Q116* LUAD 1 92573521 92573521 + Missense_Mutation SNP G G A TCGA-86-8056-01A-11D-2238-08 TCGA-86-8056-10A-01D-2238-08 g.chr1:92573521G>A c.625G>A c.(625-627)Gat>Aat p.D209N LUSC 1 92546225 92546225 + Silent SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr1:92546225C>A c.97C>A c.(97-99)Cgg>Agg p.R33R LUSC 1 92546279 92546279 + Splice_Site SNP T T A TCGA-66-2770-01A-01D-1522-08 TCGA-66-2770-11A-01D-1522-08 g.chr1:92546279T>A c.e1+2 LUSC 1 92612763 92612763 + Missense_Mutation SNP A A G TCGA-18-3419-01A-01D-0983-08 TCGA-18-3419-11A-01D-0983-08 g.chr1:92612763A>G c.957A>G c.(955-957)atA>atG p.I319M LUSC 1 92613244 92613244 + Missense_Mutation SNP G G T TCGA-66-2777-01A-01D-1267-08 TCGA-66-2777-11A-01D-1267-08 g.chr1:92613244G>T c.1023G>T c.(1021-1023)tgG>tgT p.W341C OV 1 92568090 92568090 + Missense_Mutation SNP G G T TCGA-13-0904-01A-02W-0420-08 TCGA-13-0904-10A-01D-0399-08 g.chr1:92568090G>T c.408G>T c.(406-408)aaG>aaT p.K136N PAAD 1 92568203 92568203 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:92568203G>A c.521G>A c.(520-522)aGa>aAa p.R174K PRAD 1 92595245 92595245 + Splice_Site SNP G G A TCGA-XJ-A83G-01A-11D-A34U-08 TCGA-XJ-A83G-10A-01D-A34X-08 g.chr1:92595245G>A c.664G>A c.(664-666)Gcc>Acc p.A222T READ 1 92612764 92612764 + Missense_Mutation SNP C C A TCGA-AG-A015-01A-01W-A005-10 TCGA-AG-A015-10A-01W-A005-10 g.chr1:92612764C>A c.958C>A c.(958-960)Cta>Ata p.L320I SARC 1 92554330 92554330 + Silent SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr1:92554330C>G c.225C>G c.(223-225)gtC>gtG p.V75V SARC 1 92554331 92554331 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 g.chr1:92554331C>T c.226C>T c.(226-228)Ctt>Ttt p.L76F SKCM 1 92554330 92554330 + Silent SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:92554330C>T c.225C>T c.(223-225)gtC>gtT p.V75V SKCM 1 92554331 92554331 + Missense_Mutation SNP C C T TCGA-ER-A19G-06A-11D-A196-08 TCGA-ER-A19G-10A-01D-A198-08 g.chr1:92554331C>T c.226C>T c.(226-228)Ctt>Ttt p.L76F SKCM 1 92568084 92568084 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr1:92568084G>A c.402G>A c.(400-402)agG>agA p.R134R SKCM 1 92568110 92568110 + Missense_Mutation SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:92568110C>T c.428C>T c.(427-429)tCa>tTa p.S143L SKCM 1 92568184 92568184 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr1:92568184C>T c.502C>T c.(502-504)Cca>Tca p.P168S SKCM 1 92568189 92568189 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:92568189G>A c.507G>A c.(505-507)gaG>gaA p.E169E SKCM 1 92573455 92573455 + Missense_Mutation SNP G G A TCGA-D3-A1Q5-06A-11D-A196-08 TCGA-D3-A1Q5-10A-01D-A198-08 g.chr1:92573455G>A c.559G>A c.(559-561)Gag>Aag p.E187K SKCM 1 92573483 92573483 + Nonsense_Mutation SNP T T A TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr1:92573483T>A c.587T>A c.(586-588)tTa>tAa p.L196* SKCM 1 92595247 92595247 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr1:92595247C>T c.666C>T c.(664-666)gcC>gcT p.A222A SKCM 1 92606763 92606763 + Nonsense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:92606763C>T c.925C>T c.(925-927)Cag>Tag p.Q309* SKCM 1 92612806 92612806 + Missense_Mutation SNP C C T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:92612806C>T c.1000C>T c.(1000-1002)Ctt>Ttt p.L334F SKCM 1 92612820 92612820 + Nonsense_Mutation SNP C C A TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr1:92612820C>A c.1014C>A c.(1012-1014)tgC>tgA p.C338* SKCM 1 92613243 92613243 + Nonsense_Mutation SNP G G A TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:92613243G>A c.1022G>A c.(1021-1023)tGg>tAg p.W341*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 1 92541123 92541123 single base substitution G C upstream_gene_variant BRCA-EU 1 92541227 92541227 single base substitution C T upstream_gene_variant BRCA-EU 1 92541283 92541283 insertion of <=200bp - T upstream_gene_variant BRCA-EU 1 92541620 92541620 insertion of <=200bp - A upstream_gene_variant BRCA-EU 1 92541811 92541811 single base substitution G A upstream_gene_variant BRCA-EU 1 92542494 92542494 single base substitution C T upstream_gene_variant BRCA-EU 1 92542524 92542524 single base substitution C T upstream_gene_variant BRCA-EU 1 92542693 92542693 single base substitution C A upstream_gene_variant BRCA-EU 1 92543205 92543205 single base substitution T A upstream_gene_variant BRCA-EU 1 92543787 92543787 single base substitution C T upstream_gene_variant BRCA-EU 1 92545834 92545834 single base substitution C T upstream_gene_variant BRCA-EU 1 92547781 92547781 single base substitution T A intron_variant BRCA-EU 1 92550796 92550796 single base substitution T C intron_variant BRCA-EU 1 92552344 92552344 single base substitution C T intron_variant BRCA-EU 1 92552966 92552966 single base substitution A T intron_variant BRCA-EU 1 92553969 92553969 deletion of <=200bp T - intron_variant BRCA-EU 1 92554662 92554662 single base substitution G C intron_variant BRCA-EU 1 92555364 92555364 single base substitution G T intron_variant BRCA-EU 1 92556499 92556499 single base substitution A T intron_variant BRCA-EU 1 92557323 92557323 deletion of <=200bp T - intron_variant BRCA-EU 1 92557752 92557752 single base substitution G C intron_variant BRCA-EU 1 92558697 92558697 deletion of <=200bp T - intron_variant BRCA-EU 1 92559190 92559190 insertion of <=200bp - A intron_variant BRCA-EU 1 92559417 92559417 single base substitution A G intron_variant BRCA-EU 1 92559639 92559639 deletion of <=200bp T - intron_variant BRCA-EU 1 92561893 92561893 single base substitution A G intron_variant BRCA-EU 1 92562680 92562680 single base substitution C G intron_variant BRCA-EU 1 92562864 92562864 single base substitution T G intron_variant BRCA-EU 1 92570731 92570731 single base substitution C T intron_variant BRCA-EU 1 92570773 92570773 single base substitution G A intron_variant BRCA-EU 1 92571968 92571968 single base substitution A G intron_variant BRCA-EU 1 92572463 92572463 single base substitution G A intron_variant BRCA-EU 1 92573492 92573492 deletion of <=200bp T - frameshift_variant L199 BRCA-EU 1 92574906 92574906 single base substitution T C intron_variant BRCA-EU 1 92575761 92575761 single base substitution T C intron_variant BRCA-EU 1 92575820 92575820 insertion of <=200bp - G intron_variant BRCA-EU 1 92578616 92578616 single base substitution G A intron_variant BRCA-EU 1 92579066 92579066 single base substitution G C intron_variant BRCA-EU 1 92579530 92579530 single base substitution C T intron_variant BRCA-EU 1 92579603 92579603 deletion of <=200bp T - intron_variant BRCA-EU 1 92579697 92579697 deletion of <=200bp A - intron_variant BRCA-EU 1 92580161 92580161 single base substitution C G intron_variant BRCA-EU 1 92580313 92580313 single base substitution C T intron_variant BRCA-EU 1 92582796 92582796 single base substitution A G intron_variant BRCA-EU 1 92582912 92582912 single base substitution T G intron_variant BRCA-EU 1 92583902 92583902 single base substitution G C intron_variant BRCA-EU 1 92584639 92584639 single base substitution C T intron_variant BRCA-EU 1 92584822 92584822 single base substitution G A intron_variant BRCA-EU 1 92585873 92585873 single base substitution C T intron_variant BRCA-EU 1 92585891 92585891 single base substitution C T intron_variant BRCA-EU 1 92586023 92586023 single base substitution T C intron_variant BRCA-EU 1 92587112 92587112 deletion of <=200bp T - intron_variant BRCA-EU 1 92588352 92588352 single base substitution C T intron_variant BRCA-EU 1 92588553 92588553 single base substitution C G intron_variant BRCA-EU 1 92588916 92588916 single base substitution G C intron_variant BRCA-EU 1 92589817 92589817 deletion of <=200bp T - intron_variant BRCA-EU 1 92590444 92590444 single base substitution G A intron_variant BRCA-EU 1 92591328 92591328 single base substitution T A intron_variant BRCA-EU 1 92593413 92593413 single base substitution C T intron_variant BRCA-EU 1 92593618 92593618 single base substitution A G intron_variant BRCA-EU 1 92596088 92596088 single base substitution T A intron_variant BRCA-EU 1 92596241 92596241 single base substitution T A intron_variant BRCA-EU 1 92596321 92596321 single base substitution T G intron_variant BRCA-EU 1 92598503 92598503 single base substitution C T intron_variant BRCA-EU 1 92598710 92598710 single base substitution A T intron_variant BRCA-EU 1 92598711 92598711 single base substitution A T intron_variant BRCA-EU 1 92600053 92600053 single base substitution T C intron_variant BRCA-EU 1 92600750 92600750 single base substitution T C intron_variant BRCA-EU 1 92600803 92600803 single base substitution C T intron_variant BRCA-EU 1 92601258 92601258 single base substitution G C intron_variant BRCA-EU 1 92602221 92602221 single base substitution A T intron_variant BRCA-EU 1 92602351 92602351 single base substitution T G intron_variant BRCA-EU 1 92603981 92603981 single base substitution G A intron_variant BRCA-EU 1 92605176 92605176 single base substitution C G 3_prime_UTR_variant BRCA-EU 1 92605176 92605176 single base substitution C G intron_variant BRCA-EU 1 92606087 92606113 deletion of <=200bp GGATTTACTACTAAGGTTTTGTCCCCT - downstream_gene_variant BRCA-EU 1 92606087 92606113 deletion of <=200bp GGATTTACTACTAAGGTTTTGTCCCCT - intron_variant BRCA-EU 1 92607199 92607199 single base substitution C T downstream_gene_variant BRCA-EU 1 92607199 92607199 single base substitution C T intron_variant BRCA-EU 1 92608429 92608429 single base substitution G A downstream_gene_variant BRCA-EU 1 92608429 92608429 single base substitution G A intron_variant BRCA-EU 1 92608662 92608662 single base substitution G A downstream_gene_variant BRCA-EU 1 92608662 92608662 single base substitution G A intron_variant BRCA-EU 1 92609100 92609100 single base substitution T A downstream_gene_variant BRCA-EU 1 92609100 92609100 single base substitution T A intron_variant BRCA-EU 1 92609397 92609397 single base substitution T C downstream_gene_variant BRCA-EU 1 92609397 92609397 single base substitution T C intron_variant BRCA-EU 1 92609633 92609633 single base substitution C T downstream_gene_variant BRCA-EU 1 92609633 92609633 single base substitution C T intron_variant BRCA-EU 1 92611846 92611846 deletion of <=200bp A - intron_variant BRCA-EU 1 92611846 92611846 single base substitution A T intron_variant BRCA-EU 1 92612507 92612531 deletion of <=200bp TAAGGAAAAAAATTAAGAGTCTGAC - intron_variant BRCA-EU 1 92612622 92612622 single base substitution G C intron_variant BRCA-EU 1 92614022 92614022 single base substitution G C downstream_gene_variant BRCA-EU 1 92614398 92614398 single base substitution A G downstream_gene_variant BRCA-EU 1 92616328 92616328 single base substitution G A downstream_gene_variant BRCA-FR 1 92541123 92541123 single base substitution G C upstream_gene_variant BRCA-FR 1 92541227 92541227 single base substitution C T upstream_gene_variant BRCA-FR 1 92547373 92547373 single base substitution C T intron_variant BRCA-FR 1 92552344 92552344 single base substitution C T intron_variant BRCA-FR 1 92557390 92557390 single base substitution G A intron_variant BRCA-FR 1 92562680 92562680 single base substitution C G intron_variant BRCA-FR 1 92589980 92589980 single base substitution C T intron_variant BRCA-FR 1 92591328 92591328 single base substitution T A intron_variant BRCA-FR 1 92595042 92595042 single base substitution C T intron_variant BRCA-FR 1 92608662 92608662 single base substitution G A downstream_gene_variant BRCA-FR 1 92608662 92608662 single base substitution G A intron_variant BRCA-FR 1 92612622 92612622 single base substitution G C intron_variant BRCA-UK 1 92557752 92557752 single base substitution G C intron_variant BRCA-UK 1 92595302 92595302 single base substitution G A missense_variant E241K 721G>A BTCA-JP 1 92604932 92604932 single base substitution A G missense_variant M260V 778A>G CESC-US 1 92554440 92554440 single base substitution G C missense_variant R112T 335G>C CESC-US 1 92613279 92613279 single base substitution G T 3_prime_UTR_variant CESC-US 1 92613279 92613279 single base substitution G T missense_variant R353I 1058G>T CLLE-ES 1 92542637 92542637 single base substitution T C upstream_gene_variant CLLE-ES 1 92547161 92547161 single base substitution C T intron_variant CLLE-ES 1 92565434 92565434 single base substitution G T intron_variant CLLE-ES 1 92571616 92571616 single base substitution C T intron_variant CLLE-ES 1 92581190 92581190 single base substitution C T intron_variant CLLE-ES 1 92587297 92587297 single base substitution A C intron_variant CLLE-ES 1 92594001 92594001 deletion of <=200bp A - intron_variant CLLE-ES 1 92594010 92594010 single base substitution T G intron_variant CLLE-ES 1 92596091 92596091 single base substitution A T intron_variant COAD-US 1 92554375 92554375 single base substitution G A synonymous_variant Q90Q 270G>A COAD-US 1 92554417 92554417 single base substitution G T missense_variant E104D 312G>T COCA-CN 1 92546263 92546263 single base substitution C A missense_variant S45R 135C>A COCA-CN 1 92557022 92557022 single base substitution A G intron_variant COCA-CN 1 92568263 92568263 single base substitution A G intron_variant COCA-CN 1 92573487 92573487 single base substitution G T missense_variant L197F 591G>T COCA-CN 1 92592120 92592120 single base substitution G A intron_variant COCA-CN 1 92595202 92595202 single base substitution A G intron_variant COCA-CN 1 92595360 92595360 single base substitution G T intron_variant EOPC-DE 1 92543139 92543139 single base substitution C T upstream_gene_variant EOPC-DE 1 92578594 92578594 single base substitution C T intron_variant ESAD-UK 1 92540867 92540867 single base substitution C T upstream_gene_variant ESAD-UK 1 92541810 92541810 single base substitution C A upstream_gene_variant ESAD-UK 1 92542009 92542009 single base substitution C T upstream_gene_variant ESAD-UK 1 92542558 92542559 deletion of <=200bp TA - upstream_gene_variant ESAD-UK 1 92542889 92542889 single base substitution T A upstream_gene_variant ESAD-UK 1 92551020 92551020 single base substitution G A intron_variant ESAD-UK 1 92552090 92552090 single base substitution C T intron_variant ESAD-UK 1 92552987 92552987 single base substitution A G intron_variant ESAD-UK 1 92554659 92554659 single base substitution G T intron_variant ESAD-UK 1 92556213 92556213 single base substitution G A intron_variant ESAD-UK 1 92557434 92557434 single base substitution G T intron_variant ESAD-UK 1 92557979 92557979 single base substitution C A intron_variant ESAD-UK 1 92559624 92559624 single base substitution C T intron_variant ESAD-UK 1 92560907 92560907 single base substitution G T intron_variant ESAD-UK 1 92562627 92562627 single base substitution T C intron_variant ESAD-UK 1 92566227 92566227 insertion of <=200bp - TAT intron_variant ESAD-UK 1 92566227 92566227 single base substitution C G intron_variant ESAD-UK 1 92568628 92568628 single base substitution T G intron_variant ESAD-UK 1 92568651 92568651 single base substitution G A intron_variant ESAD-UK 1 92570225 92570225 single base substitution G A intron_variant ESAD-UK 1 92570816 92570816 single base substitution A C intron_variant ESAD-UK 1 92573046 92573046 single base substitution C T intron_variant ESAD-UK 1 92574221 92574221 single base substitution A G intron_variant ESAD-UK 1 92574503 92574503 single base substitution C T intron_variant ESAD-UK 1 92574689 92574689 single base substitution C G intron_variant ESAD-UK 1 92576417 92576417 single base substitution T A intron_variant ESAD-UK 1 92577628 92577628 single base substitution G A intron_variant ESAD-UK 1 92577895 92577895 single base substitution A T intron_variant ESAD-UK 1 92577960 92577960 insertion of <=200bp - A intron_variant ESAD-UK 1 92579430 92579430 single base substitution G A intron_variant ESAD-UK 1 92579697 92579697 deletion of <=200bp A - intron_variant ESAD-UK 1 92580076 92580076 deletion of <=200bp T - intron_variant ESAD-UK 1 92582911 92582911 single base substitution G T intron_variant ESAD-UK 1 92584251 92584251 single base substitution T G intron_variant ESAD-UK 1 92584758 92584758 single base substitution T C intron_variant ESAD-UK 1 92585566 92585566 single base substitution G A intron_variant ESAD-UK 1 92586199 92586199 single base substitution T G intron_variant ESAD-UK 1 92586640 92586640 single base substitution A T intron_variant ESAD-UK 1 92586697 92586697 single base substitution T A intron_variant ESAD-UK 1 92587826 92587826 single base substitution T A intron_variant ESAD-UK 1 92588502 92588502 insertion of <=200bp - T intron_variant ESAD-UK 1 92588724 92588724 single base substitution T C intron_variant ESAD-UK 1 92589835 92589835 single base substitution T A intron_variant ESAD-UK 1 92589959 92589959 single base substitution A G intron_variant ESAD-UK 1 92591067 92591067 single base substitution G A intron_variant ESAD-UK 1 92592315 92592315 single base substitution C T intron_variant ESAD-UK 1 92594167 92594167 single base substitution G A intron_variant ESAD-UK 1 92598769 92598769 single base substitution G A intron_variant ESAD-UK 1 92599249 92599249 single base substitution C T intron_variant ESAD-UK 1 92601420 92601420 single base substitution A G intron_variant ESAD-UK 1 92602257 92602257 single base substitution A T intron_variant ESAD-UK 1 92603120 92603120 single base substitution C G intron_variant ESAD-UK 1 92603694 92603694 single base substitution T C intron_variant ESAD-UK 1 92604748 92604748 single base substitution T A intron_variant ESAD-UK 1 92604829 92604829 single base substitution A C intron_variant ESAD-UK 1 92605297 92605297 single base substitution T G 3_prime_UTR_variant ESAD-UK 1 92605297 92605297 single base substitution T G intron_variant ESAD-UK 1 92606308 92606308 single base substitution G A downstream_gene_variant ESAD-UK 1 92606308 92606308 single base substitution G A intron_variant ESAD-UK 1 92608890 92608890 single base substitution A G downstream_gene_variant ESAD-UK 1 92608890 92608890 single base substitution A G intron_variant ESAD-UK 1 92610557 92610557 single base substitution C A intron_variant ESAD-UK 1 92610563 92610563 single base substitution C T intron_variant ESAD-UK 1 92610763 92610763 single base substitution C T intron_variant ESAD-UK 1 92614014 92614014 single base substitution G A downstream_gene_variant ESAD-UK 1 92614933 92614933 single base substitution A C downstream_gene_variant ESAD-UK 1 92615701 92615701 single base substitution C A downstream_gene_variant ESAD-UK 1 92616370 92616370 single base substitution G A downstream_gene_variant KIRC-US 1 92554272 92554272 single base substitution T G missense_variant F56C 167T>G KIRP-US 1 92612759 92612759 single base substitution C G 3_prime_UTR_variant KIRP-US 1 92612759 92612759 single base substitution C G missense_variant S318C 953C>G LAML-KR 1 92573633 92573633 single base substitution C T intron_variant LAML-KR 1 92585462 92585462 single base substitution T C intron_variant LAML-KR 1 92585494 92585494 single base substitution A G intron_variant LGG-US 1 92546168 92546168 single base substitution C T missense_variant L14F 40C>T LGG-US 1 92606709 92606709 single base substitution G T downstream_gene_variant LGG-US 1 92606709 92606709 single base substitution G T intron_variant LGG-US 1 92606709 92606709 single base substitution G T stop_gained G291* 871G>T LICA-FR 1 92542145 92542145 single base substitution G T upstream_gene_variant LICA-FR 1 92554356 92554356 single base substitution A G missense_variant Y84C 251A>G LICA-FR 1 92557835 92557835 single base substitution T A intron_variant LICA-FR 1 92596070 92596070 insertion of <=200bp - A intron_variant LICA-FR 1 92604726 92604726 single base substitution C A intron_variant LICA-FR 1 92604948 92604948 single base substitution A T missense_variant Y265F 794A>T LICA-FR 1 92604973 92604973 single base substitution C T synonymous_variant D273D 819C>T LICA-FR 1 92616910 92616910 insertion of <=200bp - A downstream_gene_variant LIHC-US 1 92554445 92554445 deletion of <=200bp T - frameshift_variant F114 LINC-JP 1 92543361 92543361 deletion of <=200bp T - upstream_gene_variant LINC-JP 1 92573111 92573111 single base substitution A G intron_variant LINC-JP 1 92574810 92574810 deletion of <=200bp T - intron_variant LINC-JP 1 92581254 92581254 single base substitution A G intron_variant LINC-JP 1 92587935 92587935 single base substitution C G intron_variant LINC-JP 1 92612578 92612578 single base substitution A G intron_variant LINC-JP 1 92612916 92612916 single base substitution G A intron_variant LIRI-JP 1 92541146 92541146 single base substitution C T upstream_gene_variant LIRI-JP 1 92541540 92541540 single base substitution G T upstream_gene_variant LIRI-JP 1 92542051 92542051 single base substitution T C upstream_gene_variant LIRI-JP 1 92542378 92542378 single base substitution A G upstream_gene_variant LIRI-JP 1 92542880 92542880 single base substitution T C upstream_gene_variant LIRI-JP 1 92543582 92543582 single base substitution A T upstream_gene_variant LIRI-JP 1 92544662 92544662 single base substitution C G upstream_gene_variant LIRI-JP 1 92544857 92544857 single base substitution C G upstream_gene_variant LIRI-JP 1 92545395 92545395 single base substitution G C upstream_gene_variant LIRI-JP 1 92546098 92546098 single base substitution G A 5_prime_UTR_variant LIRI-JP 1 92549520 92549520 single base substitution A G intron_variant LIRI-JP 1 92550291 92550291 single base substitution C A intron_variant LIRI-JP 1 92550629 92550629 single base substitution T C intron_variant LIRI-JP 1 92551751 92551751 single base substitution C T intron_variant LIRI-JP 1 92556612 92556612 single base substitution A G intron_variant LIRI-JP 1 92560625 92560625 single base substitution G A intron_variant LIRI-JP 1 92563629 92563629 single base substitution G T intron_variant LIRI-JP 1 92567452 92567452 single base substitution A T intron_variant LIRI-JP 1 92573046 92573046 single base substitution C T intron_variant LIRI-JP 1 92575580 92575580 single base substitution G A intron_variant LIRI-JP 1 92576177 92576177 single base substitution G A intron_variant LIRI-JP 1 92576190 92576190 single base substitution C G intron_variant LIRI-JP 1 92576545 92576545 single base substitution C T intron_variant LIRI-JP 1 92577753 92577753 single base substitution A G intron_variant LIRI-JP 1 92578176 92578176 single base substitution A T intron_variant LIRI-JP 1 92578398 92578398 single base substitution A G intron_variant LIRI-JP 1 92578721 92578721 single base substitution A G intron_variant LIRI-JP 1 92578799 92578799 single base substitution A T intron_variant LIRI-JP 1 92578935 92578935 single base substitution G A intron_variant LIRI-JP 1 92581152 92581152 single base substitution A G intron_variant LIRI-JP 1 92582021 92582021 single base substitution C T intron_variant LIRI-JP 1 92582325 92582325 single base substitution C G intron_variant LIRI-JP 1 92582559 92582559 single base substitution T G intron_variant LIRI-JP 1 92583928 92583928 single base substitution G T intron_variant LIRI-JP 1 92587030 92587030 single base substitution G A intron_variant LIRI-JP 1 92588039 92588039 single base substitution C A intron_variant LIRI-JP 1 92588625 92588625 single base substitution A G intron_variant LIRI-JP 1 92588771 92588771 single base substitution C T intron_variant LIRI-JP 1 92589917 92589917 single base substitution G T intron_variant LIRI-JP 1 92590693 92590693 single base substitution G T intron_variant LIRI-JP 1 92591024 92591024 single base substitution G C intron_variant LIRI-JP 1 92592903 92592903 single base substitution A G intron_variant LIRI-JP 1 92594829 92594829 single base substitution C G intron_variant LIRI-JP 1 92594909 92594909 single base substitution T A intron_variant LIRI-JP 1 92595254 92595254 single base substitution A T missense_variant S225C 673A>T LIRI-JP 1 92596913 92596913 single base substitution G C intron_variant LIRI-JP 1 92597003 92597003 single base substitution G A intron_variant LIRI-JP 1 92600667 92600667 single base substitution C T intron_variant LIRI-JP 1 92601352 92601352 single base substitution A T intron_variant LIRI-JP 1 92602072 92602072 single base substitution G A intron_variant LIRI-JP 1 92602188 92602188 single base substitution A G intron_variant LIRI-JP 1 92603800 92603800 single base substitution G A intron_variant LIRI-JP 1 92605829 92605829 single base substitution A C downstream_gene_variant LIRI-JP 1 92605829 92605829 single base substitution A C intron_variant LIRI-JP 1 92607231 92607231 single base substitution A G downstream_gene_variant LIRI-JP 1 92607231 92607231 single base substitution A G intron_variant LIRI-JP 1 92607594 92607594 single base substitution A T downstream_gene_variant LIRI-JP 1 92607594 92607594 single base substitution A T intron_variant LIRI-JP 1 92607933 92607933 single base substitution G A downstream_gene_variant LIRI-JP 1 92607933 92607933 single base substitution G A intron_variant LIRI-JP 1 92609170 92609170 single base substitution C A downstream_gene_variant LIRI-JP 1 92609170 92609170 single base substitution C A intron_variant LIRI-JP 1 92611085 92611085 single base substitution T C intron_variant LIRI-JP 1 92611584 92611584 single base substitution C T intron_variant LIRI-JP 1 92611704 92611704 single base substitution C A intron_variant LIRI-JP 1 92612757 92612757 single base substitution G A 3_prime_UTR_variant LIRI-JP 1 92612757 92612757 single base substitution G A synonymous_variant T317T 951G>A LIRI-JP 1 92614010 92614010 single base substitution G C downstream_gene_variant LIRI-JP 1 92614558 92614558 single base substitution A G downstream_gene_variant LIRI-JP 1 92614589 92614589 single base substitution A G downstream_gene_variant LIRI-JP 1 92614713 92614713 single base substitution A G downstream_gene_variant LUSC-KR 1 92542805 92542805 single base substitution C G upstream_gene_variant LUSC-KR 1 92543388 92543388 single base substitution T C upstream_gene_variant LUSC-KR 1 92544326 92544326 single base substitution T A upstream_gene_variant LUSC-KR 1 92544675 92544675 single base substitution A T upstream_gene_variant LUSC-KR 1 92545003 92545003 single base substitution C A upstream_gene_variant LUSC-KR 1 92545808 92545808 single base substitution A G upstream_gene_variant LUSC-KR 1 92547401 92547401 single base substitution G T intron_variant LUSC-KR 1 92552603 92552603 single base substitution G T intron_variant LUSC-KR 1 92552604 92552604 single base substitution A C intron_variant LUSC-KR 1 92552868 92552868 single base substitution G T intron_variant LUSC-KR 1 92557897 92557897 single base substitution G T intron_variant LUSC-KR 1 92562658 92562658 single base substitution C G intron_variant LUSC-KR 1 92573633 92573633 single base substitution C T intron_variant LUSC-KR 1 92579783 92579783 single base substitution A T intron_variant LUSC-KR 1 92580443 92580443 single base substitution G C intron_variant LUSC-KR 1 92581892 92581892 single base substitution A G intron_variant LUSC-KR 1 92589143 92589143 single base substitution G T intron_variant LUSC-KR 1 92599388 92599388 single base substitution G T intron_variant LUSC-KR 1 92599514 92599514 single base substitution G A intron_variant LUSC-KR 1 92599747 92599747 single base substitution G C intron_variant LUSC-KR 1 92601472 92601472 single base substitution G C intron_variant LUSC-KR 1 92605309 92605309 single base substitution A G 3_prime_UTR_variant LUSC-KR 1 92605309 92605309 single base substitution A G intron_variant LUSC-KR 1 92609184 92609184 single base substitution C G downstream_gene_variant LUSC-KR 1 92609184 92609184 single base substitution C G intron_variant LUSC-KR 1 92609291 92609291 single base substitution A T downstream_gene_variant LUSC-KR 1 92609291 92609291 single base substitution A T intron_variant LUSC-KR 1 92614442 92614442 single base substitution A G downstream_gene_variant LUSC-US 1 92546225 92546225 single base substitution C A synonymous_variant R33R 97C>A LUSC-US 1 92546279 92546279 single base substitution T A splice_donor_variant LUSC-US 1 92612763 92612763 single base substitution A G 3_prime_UTR_variant LUSC-US 1 92612763 92612763 single base substitution A G missense_variant I319M 957A>G LUSC-US 1 92613244 92613244 single base substitution G T 3_prime_UTR_variant LUSC-US 1 92613244 92613244 single base substitution G T missense_variant W341C 1023G>T MALY-DE 1 92546179 92546179 single base substitution C T synonymous_variant S17S 51C>T MALY-DE 1 92551596 92551596 single base substitution C A intron_variant MALY-DE 1 92554397 92554397 single base substitution C A missense_variant Q98K 292C>A MALY-DE 1 92556334 92556334 deletion of <=200bp A - intron_variant MALY-DE 1 92556505 92556505 single base substitution T C intron_variant MALY-DE 1 92557008 92557009 deletion of <=200bp GT - intron_variant MALY-DE 1 92566611 92566611 single base substitution T G intron_variant MALY-DE 1 92567535 92567535 single base substitution G A intron_variant MALY-DE 1 92570450 92570450 single base substitution C T intron_variant MALY-DE 1 92590235 92590235 single base substitution C T intron_variant MALY-DE 1 92590349 92590349 single base substitution G A intron_variant MALY-DE 1 92590473 92590473 single base substitution A T intron_variant MALY-DE 1 92590945 92590945 single base substitution C A intron_variant MALY-DE 1 92591936 92591936 single base substitution A G intron_variant MALY-DE 1 92598822 92598822 single base substitution C T intron_variant MALY-DE 1 92599179 92599179 single base substitution C A intron_variant MALY-DE 1 92601944 92601944 single base substitution C T intron_variant MALY-DE 1 92609633 92609633 single base substitution C T downstream_gene_variant MALY-DE 1 92609633 92609633 single base substitution C T intron_variant MALY-DE 1 92613836 92613836 single base substitution C T downstream_gene_variant MALY-DE 1 92616587 92616587 single base substitution G A downstream_gene_variant MELA-AU 1 92540864 92540864 single base substitution C T upstream_gene_variant MELA-AU 1 92540882 92540882 single base substitution G A upstream_gene_variant MELA-AU 1 92540884 92540885 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 92540970 92540970 single base substitution C T upstream_gene_variant MELA-AU 1 92541278 92541278 single base substitution T A upstream_gene_variant MELA-AU 1 92541520 92541520 single base substitution C T upstream_gene_variant MELA-AU 1 92541574 92541574 single base substitution G A upstream_gene_variant MELA-AU 1 92541757 92541757 single base substitution G A upstream_gene_variant MELA-AU 1 92542108 92542108 single base substitution A T upstream_gene_variant MELA-AU 1 92542484 92542484 single base substitution C T upstream_gene_variant MELA-AU 1 92542494 92542494 single base substitution C T upstream_gene_variant MELA-AU 1 92542702 92542702 single base substitution G A upstream_gene_variant MELA-AU 1 92542729 92542729 single base substitution G A upstream_gene_variant MELA-AU 1 92542836 92542836 single base substitution C A upstream_gene_variant MELA-AU 1 92542894 92542894 single base substitution T A upstream_gene_variant MELA-AU 1 92542943 92542943 single base substitution A G upstream_gene_variant MELA-AU 1 92543083 92543083 single base substitution G A upstream_gene_variant MELA-AU 1 92543140 92543140 single base substitution G A upstream_gene_variant MELA-AU 1 92543394 92543394 single base substitution A T upstream_gene_variant MELA-AU 1 92543587 92543587 single base substitution A T upstream_gene_variant MELA-AU 1 92543856 92543856 single base substitution G A upstream_gene_variant MELA-AU 1 92543942 92543942 single base substitution C T upstream_gene_variant MELA-AU 1 92544850 92544850 single base substitution C T upstream_gene_variant MELA-AU 1 92545081 92545081 single base substitution T A upstream_gene_variant MELA-AU 1 92545439 92545439 single base substitution C T upstream_gene_variant MELA-AU 1 92545566 92545566 single base substitution C T upstream_gene_variant MELA-AU 1 92545905 92545905 single base substitution C T 5_prime_UTR_variant MELA-AU 1 92545905 92545905 single base substitution C T upstream_gene_variant MELA-AU 1 92546066 92546066 single base substitution C T 5_prime_UTR_variant MELA-AU 1 92546066 92546066 single base substitution C T upstream_gene_variant MELA-AU 1 92547635 92547635 single base substitution A G intron_variant MELA-AU 1 92547652 92547652 single base substitution G A intron_variant MELA-AU 1 92548103 92548103 single base substitution G A intron_variant MELA-AU 1 92548120 92548120 single base substitution G A intron_variant MELA-AU 1 92548223 92548223 single base substitution G A intron_variant MELA-AU 1 92548245 92548245 single base substitution C T intron_variant MELA-AU 1 92548309 92548309 single base substitution C T intron_variant MELA-AU 1 92548827 92548827 single base substitution G A intron_variant MELA-AU 1 92548867 92548867 single base substitution C T intron_variant MELA-AU 1 92549047 92549047 single base substitution T A intron_variant MELA-AU 1 92549191 92549191 single base substitution C T intron_variant MELA-AU 1 92549220 92549220 single base substitution G A intron_variant MELA-AU 1 92549288 92549288 single base substitution G A intron_variant MELA-AU 1 92549351 92549351 single base substitution G A intron_variant MELA-AU 1 92549365 92549365 single base substitution G A intron_variant MELA-AU 1 92549402 92549402 single base substitution G A intron_variant MELA-AU 1 92549569 92549569 single base substitution G A intron_variant MELA-AU 1 92549620 92549620 single base substitution C T intron_variant MELA-AU 1 92549709 92549709 single base substitution C T intron_variant MELA-AU 1 92549773 92549773 single base substitution C T intron_variant MELA-AU 1 92549785 92549785 single base substitution C T intron_variant MELA-AU 1 92550019 92550019 single base substitution G A intron_variant MELA-AU 1 92550038 92550038 single base substitution G A intron_variant MELA-AU 1 92550230 92550230 single base substitution C T intron_variant MELA-AU 1 92550335 92550335 single base substitution G A intron_variant MELA-AU 1 92550563 92550563 single base substitution C T intron_variant MELA-AU 1 92550673 92550673 single base substitution C T intron_variant MELA-AU 1 92550691 92550691 single base substitution C T intron_variant MELA-AU 1 92550698 92550698 single base substitution G A intron_variant MELA-AU 1 92550913 92550913 single base substitution C T intron_variant MELA-AU 1 92550933 92550933 single base substitution G T intron_variant MELA-AU 1 92550949 92550949 single base substitution G A intron_variant MELA-AU 1 92551356 92551356 single base substitution G A intron_variant MELA-AU 1 92551458 92551458 single base substitution G A intron_variant MELA-AU 1 92551530 92551530 single base substitution G A intron_variant MELA-AU 1 92551564 92551564 single base substitution G A intron_variant MELA-AU 1 92551568 92551568 single base substitution G A intron_variant MELA-AU 1 92551706 92551706 single base substitution G A intron_variant MELA-AU 1 92551880 92551880 single base substitution C T intron_variant MELA-AU 1 92552102 92552102 single base substitution C T intron_variant MELA-AU 1 92552328 92552328 single base substitution C T intron_variant MELA-AU 1 92552375 92552375 single base substitution C T intron_variant MELA-AU 1 92552408 92552408 single base substitution C T intron_variant MELA-AU 1 92552492 92552492 single base substitution G A intron_variant MELA-AU 1 92552652 92552652 single base substitution C T intron_variant MELA-AU 1 92552686 92552686 single base substitution G A intron_variant MELA-AU 1 92552758 92552758 single base substitution C T intron_variant MELA-AU 1 92552871 92552871 single base substitution G A intron_variant MELA-AU 1 92553077 92553077 single base substitution C T intron_variant MELA-AU 1 92553091 92553091 single base substitution G A intron_variant MELA-AU 1 92553672 92553672 single base substitution G A intron_variant MELA-AU 1 92553942 92553942 single base substitution G A intron_variant MELA-AU 1 92554237 92554237 single base substitution C T intron_variant MELA-AU 1 92554571 92554571 single base substitution T C intron_variant MELA-AU 1 92554579 92554579 single base substitution C T intron_variant MELA-AU 1 92554771 92554771 single base substitution G A intron_variant MELA-AU 1 92554855 92554855 single base substitution A C intron_variant MELA-AU 1 92555138 92555138 single base substitution C T intron_variant MELA-AU 1 92555170 92555170 single base substitution C T intron_variant MELA-AU 1 92555234 92555234 single base substitution C T intron_variant MELA-AU 1 92555329 92555329 single base substitution G A intron_variant MELA-AU 1 92555810 92555810 single base substitution C T intron_variant MELA-AU 1 92555827 92555827 single base substitution G A intron_variant MELA-AU 1 92556128 92556128 single base substitution C T intron_variant MELA-AU 1 92556134 92556134 single base substitution C T intron_variant MELA-AU 1 92556150 92556150 single base substitution C T intron_variant MELA-AU 1 92556320 92556320 single base substitution C T intron_variant MELA-AU 1 92556321 92556321 single base substitution C T intron_variant MELA-AU 1 92556333 92556333 single base substitution G A intron_variant MELA-AU 1 92556472 92556472 single base substitution G A intron_variant MELA-AU 1 92556534 92556534 single base substitution C T intron_variant MELA-AU 1 92556659 92556659 single base substitution C T intron_variant MELA-AU 1 92556967 92556967 single base substitution G A intron_variant MELA-AU 1 92557116 92557116 single base substitution G A intron_variant MELA-AU 1 92557133 92557133 single base substitution C T intron_variant MELA-AU 1 92557195 92557195 single base substitution C T intron_variant MELA-AU 1 92557223 92557223 single base substitution C T intron_variant MELA-AU 1 92557362 92557362 single base substitution C T intron_variant MELA-AU 1 92557455 92557455 single base substitution C T intron_variant MELA-AU 1 92557466 92557466 single base substitution C T intron_variant MELA-AU 1 92557546 92557546 single base substitution A G intron_variant MELA-AU 1 92557809 92557809 single base substitution A T intron_variant MELA-AU 1 92558012 92558012 single base substitution C T intron_variant MELA-AU 1 92558112 92558112 single base substitution G A intron_variant MELA-AU 1 92558461 92558461 single base substitution A G intron_variant MELA-AU 1 92558840 92558840 single base substitution C T intron_variant MELA-AU 1 92558883 92558883 single base substitution G T intron_variant MELA-AU 1 92558892 92558892 single base substitution G A intron_variant MELA-AU 1 92558942 92558942 single base substitution T C intron_variant MELA-AU 1 92558968 92558968 single base substitution C T intron_variant MELA-AU 1 92558969 92558969 single base substitution G A intron_variant MELA-AU 1 92559080 92559080 single base substitution C T intron_variant MELA-AU 1 92559181 92559181 single base substitution C T intron_variant MELA-AU 1 92559335 92559335 single base substitution G A intron_variant MELA-AU 1 92559878 92559878 single base substitution C T intron_variant MELA-AU 1 92559921 92559921 single base substitution G A intron_variant MELA-AU 1 92559936 92559936 single base substitution G A intron_variant MELA-AU 1 92559966 92559966 single base substitution G A intron_variant MELA-AU 1 92560076 92560076 single base substitution G A intron_variant MELA-AU 1 92560246 92560246 single base substitution G A intron_variant MELA-AU 1 92560284 92560284 single base substitution C T intron_variant MELA-AU 1 92560288 92560288 single base substitution G A intron_variant MELA-AU 1 92560293 92560293 single base substitution C T intron_variant MELA-AU 1 92560453 92560453 single base substitution G A intron_variant MELA-AU 1 92560624 92560624 single base substitution C T intron_variant MELA-AU 1 92560632 92560632 single base substitution C T intron_variant MELA-AU 1 92560699 92560699 single base substitution C T intron_variant MELA-AU 1 92560757 92560757 single base substitution C T intron_variant MELA-AU 1 92560787 92560788 multiple base substitution (>=2bp and <=200bp) CA AG intron_variant MELA-AU 1 92560798 92560798 single base substitution C T intron_variant MELA-AU 1 92560947 92560947 single base substitution C T intron_variant MELA-AU 1 92561106 92561106 single base substitution C T intron_variant MELA-AU 1 92561144 92561144 single base substitution C T intron_variant MELA-AU 1 92561782 92561782 single base substitution T G intron_variant MELA-AU 1 92561862 92561862 single base substitution T A intron_variant MELA-AU 1 92561865 92561865 single base substitution C T intron_variant MELA-AU 1 92562020 92562020 single base substitution G A intron_variant MELA-AU 1 92562032 92562032 single base substitution G A intron_variant MELA-AU 1 92562248 92562248 single base substitution C T intron_variant MELA-AU 1 92562320 92562320 single base substitution C T intron_variant MELA-AU 1 92562409 92562409 single base substitution C T intron_variant MELA-AU 1 92562721 92562721 single base substitution T A intron_variant MELA-AU 1 92562724 92562724 single base substitution C T intron_variant MELA-AU 1 92562759 92562759 single base substitution C T intron_variant MELA-AU 1 92562916 92562916 single base substitution C T intron_variant MELA-AU 1 92562925 92562925 single base substitution C T intron_variant MELA-AU 1 92563103 92563103 single base substitution C T intron_variant MELA-AU 1 92563181 92563181 single base substitution G A intron_variant MELA-AU 1 92563326 92563326 single base substitution G A intron_variant MELA-AU 1 92563420 92563420 single base substitution G C intron_variant MELA-AU 1 92563886 92563886 single base substitution G A intron_variant MELA-AU 1 92564058 92564058 single base substitution C T intron_variant MELA-AU 1 92564217 92564217 single base substitution C T intron_variant MELA-AU 1 92564925 92564925 single base substitution C T intron_variant MELA-AU 1 92564931 92564931 single base substitution C T intron_variant MELA-AU 1 92565417 92565417 single base substitution C T intron_variant MELA-AU 1 92565522 92565522 single base substitution C T intron_variant MELA-AU 1 92565545 92565545 single base substitution G A intron_variant MELA-AU 1 92565616 92565616 single base substitution C T intron_variant MELA-AU 1 92565851 92565851 single base substitution C T intron_variant MELA-AU 1 92565916 92565916 single base substitution C T intron_variant MELA-AU 1 92566041 92566041 single base substitution C T intron_variant MELA-AU 1 92566119 92566119 single base substitution G A intron_variant MELA-AU 1 92566408 92566408 single base substitution C T intron_variant MELA-AU 1 92566417 92566417 single base substitution C T intron_variant MELA-AU 1 92566645 92566645 single base substitution C T intron_variant MELA-AU 1 92566685 92566685 single base substitution C T intron_variant MELA-AU 1 92566846 92566846 single base substitution C T intron_variant MELA-AU 1 92567068 92567068 single base substitution G A intron_variant MELA-AU 1 92567090 92567090 single base substitution C T intron_variant MELA-AU 1 92567121 92567121 single base substitution C T intron_variant MELA-AU 1 92567166 92567166 single base substitution G A intron_variant MELA-AU 1 92567171 92567171 single base substitution C T intron_variant MELA-AU 1 92567263 92567263 single base substitution A G intron_variant MELA-AU 1 92567389 92567389 single base substitution G A intron_variant MELA-AU 1 92567583 92567583 single base substitution T A intron_variant MELA-AU 1 92567602 92567602 single base substitution G A intron_variant MELA-AU 1 92567611 92567611 single base substitution C T intron_variant MELA-AU 1 92567627 92567627 single base substitution G A intron_variant MELA-AU 1 92567659 92567659 single base substitution A G intron_variant MELA-AU 1 92567981 92567981 single base substitution T C intron_variant MELA-AU 1 92568086 92568086 single base substitution A T missense_variant K135I 404A>T MELA-AU 1 92568383 92568383 single base substitution C T intron_variant MELA-AU 1 92568609 92568609 single base substitution C T intron_variant MELA-AU 1 92568812 92568812 single base substitution G A intron_variant MELA-AU 1 92568859 92568859 single base substitution A T intron_variant MELA-AU 1 92568873 92568873 single base substitution C T intron_variant MELA-AU 1 92569007 92569007 single base substitution G A intron_variant MELA-AU 1 92569029 92569029 single base substitution G A intron_variant MELA-AU 1 92569184 92569184 single base substitution C T intron_variant MELA-AU 1 92569248 92569248 single base substitution G A intron_variant MELA-AU 1 92569300 92569300 single base substitution G A intron_variant MELA-AU 1 92569305 92569305 single base substitution G A intron_variant MELA-AU 1 92569663 92569663 single base substitution G A intron_variant MELA-AU 1 92569745 92569745 single base substitution T C intron_variant MELA-AU 1 92569849 92569849 single base substitution G A intron_variant MELA-AU 1 92569853 92569854 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 92569986 92569986 single base substitution C T intron_variant MELA-AU 1 92570200 92570200 single base substitution C A intron_variant MELA-AU 1 92570228 92570228 single base substitution A G intron_variant MELA-AU 1 92570349 92570349 single base substitution C T intron_variant MELA-AU 1 92570358 92570358 single base substitution C T intron_variant MELA-AU 1 92570451 92570451 single base substitution C T intron_variant MELA-AU 1 92570588 92570588 single base substitution C T intron_variant MELA-AU 1 92570677 92570677 single base substitution G A intron_variant MELA-AU 1 92570759 92570759 single base substitution G A intron_variant MELA-AU 1 92570766 92570766 single base substitution G A intron_variant MELA-AU 1 92571001 92571001 single base substitution G A intron_variant MELA-AU 1 92571005 92571005 single base substitution T C intron_variant MELA-AU 1 92571140 92571140 single base substitution C T intron_variant MELA-AU 1 92571581 92571581 single base substitution C T intron_variant MELA-AU 1 92571788 92571788 single base substitution C T intron_variant MELA-AU 1 92571817 92571817 single base substitution T A intron_variant MELA-AU 1 92571865 92571865 single base substitution G A intron_variant MELA-AU 1 92571892 92571892 single base substitution C T intron_variant MELA-AU 1 92572076 92572076 single base substitution G A intron_variant MELA-AU 1 92572112 92572112 single base substitution G A intron_variant MELA-AU 1 92572254 92572254 single base substitution C T intron_variant MELA-AU 1 92572452 92572452 single base substitution A G intron_variant MELA-AU 1 92572735 92572735 single base substitution G A intron_variant MELA-AU 1 92573583 92573583 single base substitution G T intron_variant MELA-AU 1 92573884 92573884 single base substitution C T intron_variant MELA-AU 1 92573904 92573904 single base substitution G A intron_variant MELA-AU 1 92574263 92574263 single base substitution G A intron_variant MELA-AU 1 92574300 92574300 single base substitution G A intron_variant MELA-AU 1 92574404 92574404 single base substitution G A intron_variant MELA-AU 1 92574620 92574620 single base substitution G A intron_variant MELA-AU 1 92574964 92574964 single base substitution C T intron_variant MELA-AU 1 92575236 92575236 single base substitution G A intron_variant MELA-AU 1 92575508 92575508 single base substitution G A intron_variant MELA-AU 1 92575847 92575847 single base substitution C T intron_variant MELA-AU 1 92575892 92575892 single base substitution C T intron_variant MELA-AU 1 92575921 92575921 single base substitution C T intron_variant MELA-AU 1 92576013 92576013 single base substitution G A intron_variant MELA-AU 1 92576322 92576322 single base substitution G A intron_variant MELA-AU 1 92576795 92576795 single base substitution C T intron_variant MELA-AU 1 92576986 92576986 single base substitution C T intron_variant MELA-AU 1 92577095 92577095 single base substitution G A intron_variant MELA-AU 1 92577407 92577407 single base substitution G A intron_variant MELA-AU 1 92577645 92577645 single base substitution G A intron_variant MELA-AU 1 92577646 92577646 single base substitution G A intron_variant MELA-AU 1 92577715 92577715 single base substitution C T intron_variant MELA-AU 1 92577743 92577743 single base substitution G A intron_variant MELA-AU 1 92577943 92577943 single base substitution G A intron_variant MELA-AU 1 92577975 92577975 single base substitution C T intron_variant MELA-AU 1 92578058 92578058 single base substitution G A intron_variant MELA-AU 1 92578150 92578150 single base substitution C T intron_variant MELA-AU 1 92578312 92578312 single base substitution C T intron_variant MELA-AU 1 92578480 92578480 single base substitution C T intron_variant MELA-AU 1 92578640 92578640 single base substitution G A intron_variant MELA-AU 1 92578741 92578741 single base substitution T G intron_variant MELA-AU 1 92578858 92578858 single base substitution G A intron_variant MELA-AU 1 92578863 92578863 single base substitution G C intron_variant MELA-AU 1 92579032 92579032 single base substitution G A intron_variant MELA-AU 1 92579212 92579212 single base substitution T C intron_variant MELA-AU 1 92579349 92579349 single base substitution C T intron_variant MELA-AU 1 92579461 92579461 single base substitution C T intron_variant MELA-AU 1 92579659 92579659 single base substitution C T intron_variant MELA-AU 1 92579793 92579793 single base substitution G A intron_variant MELA-AU 1 92579827 92579827 single base substitution G A intron_variant MELA-AU 1 92579848 92579848 single base substitution C T intron_variant MELA-AU 1 92580008 92580008 single base substitution C T intron_variant MELA-AU 1 92580049 92580049 single base substitution C T intron_variant MELA-AU 1 92580061 92580061 single base substitution C T intron_variant MELA-AU 1 92580183 92580183 single base substitution C T intron_variant MELA-AU 1 92580210 92580210 single base substitution C T intron_variant MELA-AU 1 92580217 92580217 single base substitution C G intron_variant MELA-AU 1 92580349 92580349 single base substitution C T intron_variant MELA-AU 1 92580350 92580350 single base substitution C T intron_variant MELA-AU 1 92580353 92580354 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 92580552 92580552 single base substitution C T intron_variant MELA-AU 1 92580609 92580609 single base substitution T A intron_variant MELA-AU 1 92580614 92580614 single base substitution C T intron_variant MELA-AU 1 92580616 92580616 single base substitution A C intron_variant MELA-AU 1 92580633 92580633 single base substitution C T intron_variant MELA-AU 1 92580744 92580744 single base substitution G A intron_variant MELA-AU 1 92580761 92580761 single base substitution G A intron_variant MELA-AU 1 92580787 92580787 single base substitution C T intron_variant MELA-AU 1 92580788 92580788 single base substitution C T intron_variant MELA-AU 1 92581054 92581054 single base substitution G A intron_variant MELA-AU 1 92581150 92581150 single base substitution C T intron_variant MELA-AU 1 92581185 92581185 single base substitution G A intron_variant MELA-AU 1 92581233 92581233 single base substitution C T intron_variant MELA-AU 1 92581438 92581438 single base substitution C T intron_variant MELA-AU 1 92581559 92581559 single base substitution C T intron_variant MELA-AU 1 92581593 92581593 single base substitution G A intron_variant MELA-AU 1 92581697 92581697 single base substitution G A intron_variant MELA-AU 1 92581704 92581704 single base substitution C T intron_variant MELA-AU 1 92581875 92581875 single base substitution C T intron_variant MELA-AU 1 92581987 92581987 single base substitution G C intron_variant MELA-AU 1 92582282 92582282 single base substitution C T intron_variant MELA-AU 1 92582513 92582513 single base substitution C T intron_variant MELA-AU 1 92582585 92582585 single base substitution T A intron_variant MELA-AU 1 92582675 92582675 single base substitution G A intron_variant MELA-AU 1 92582911 92582911 single base substitution G T intron_variant MELA-AU 1 92583029 92583029 single base substitution T G intron_variant MELA-AU 1 92583107 92583107 single base substitution G A intron_variant MELA-AU 1 92583157 92583158 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 1 92583723 92583723 single base substitution C T intron_variant MELA-AU 1 92583947 92583947 single base substitution C T intron_variant MELA-AU 1 92583998 92583998 single base substitution C T intron_variant MELA-AU 1 92584054 92584054 single base substitution C T intron_variant MELA-AU 1 92584114 92584114 single base substitution C T intron_variant MELA-AU 1 92584137 92584137 single base substitution G A intron_variant MELA-AU 1 92584459 92584459 single base substitution C G intron_variant MELA-AU 1 92584686 92584686 single base substitution G A intron_variant MELA-AU 1 92584906 92584906 single base substitution G A intron_variant MELA-AU 1 92584933 92584933 single base substitution C T intron_variant MELA-AU 1 92585037 92585037 single base substitution C T intron_variant MELA-AU 1 92585040 92585040 single base substitution C T intron_variant MELA-AU 1 92585225 92585225 single base substitution C T intron_variant MELA-AU 1 92585247 92585247 single base substitution G A intron_variant MELA-AU 1 92585252 92585252 single base substitution C T intron_variant MELA-AU 1 92585331 92585331 single base substitution C T intron_variant MELA-AU 1 92585339 92585339 single base substitution G A intron_variant MELA-AU 1 92585376 92585376 single base substitution C T intron_variant MELA-AU 1 92585498 92585498 single base substitution C A intron_variant MELA-AU 1 92585698 92585698 single base substitution C T intron_variant MELA-AU 1 92586123 92586123 single base substitution G A intron_variant MELA-AU 1 92586595 92586595 single base substitution T G intron_variant MELA-AU 1 92586645 92586645 single base substitution C T intron_variant MELA-AU 1 92586754 92586754 single base substitution G A intron_variant MELA-AU 1 92587008 92587008 single base substitution G A intron_variant MELA-AU 1 92587060 92587060 single base substitution G A intron_variant MELA-AU 1 92587112 92587112 deletion of <=200bp T - intron_variant MELA-AU 1 92587201 92587201 single base substitution T C intron_variant MELA-AU 1 92587385 92587385 single base substitution C A intron_variant MELA-AU 1 92587397 92587397 single base substitution T C intron_variant MELA-AU 1 92587829 92587829 single base substitution T A intron_variant MELA-AU 1 92587851 92587851 single base substitution C T intron_variant MELA-AU 1 92588276 92588276 single base substitution C T intron_variant MELA-AU 1 92588379 92588379 single base substitution C T intron_variant MELA-AU 1 92588392 92588392 single base substitution G A intron_variant MELA-AU 1 92588584 92588584 single base substitution G A intron_variant MELA-AU 1 92588784 92588784 single base substitution C T intron_variant MELA-AU 1 92588903 92588903 single base substitution C T intron_variant MELA-AU 1 92589107 92589115 deletion of <=200bp TTTGTTACA - intron_variant MELA-AU 1 92589260 92589260 single base substitution G A intron_variant MELA-AU 1 92589288 92589288 single base substitution C T intron_variant MELA-AU 1 92589519 92589519 single base substitution C T intron_variant MELA-AU 1 92589717 92589717 single base substitution C T intron_variant MELA-AU 1 92589769 92589769 single base substitution T A intron_variant MELA-AU 1 92589815 92589815 single base substitution C T intron_variant MELA-AU 1 92589893 92589893 single base substitution G A intron_variant MELA-AU 1 92589915 92589915 single base substitution C T intron_variant MELA-AU 1 92590280 92590280 single base substitution C T intron_variant MELA-AU 1 92590526 92590526 single base substitution C T intron_variant MELA-AU 1 92590640 92590640 single base substitution C T intron_variant MELA-AU 1 92590863 92590863 single base substitution G A intron_variant MELA-AU 1 92591013 92591013 single base substitution G A intron_variant MELA-AU 1 92591115 92591115 single base substitution C T intron_variant MELA-AU 1 92591475 92591475 single base substitution G A intron_variant MELA-AU 1 92591478 92591478 single base substitution C T intron_variant MELA-AU 1 92591628 92591628 single base substitution C T intron_variant MELA-AU 1 92591747 92591747 single base substitution G A intron_variant MELA-AU 1 92592171 92592171 single base substitution G A intron_variant MELA-AU 1 92592550 92592550 single base substitution G A intron_variant MELA-AU 1 92592767 92592767 single base substitution A G intron_variant MELA-AU 1 92592809 92592809 single base substitution C T intron_variant MELA-AU 1 92592884 92592884 single base substitution T C intron_variant MELA-AU 1 92592993 92592993 single base substitution G A intron_variant MELA-AU 1 92593070 92593070 single base substitution T A intron_variant MELA-AU 1 92593072 92593072 single base substitution C T intron_variant MELA-AU 1 92593103 92593103 single base substitution G A intron_variant MELA-AU 1 92593146 92593146 insertion of <=200bp - A intron_variant MELA-AU 1 92593156 92593156 single base substitution G A intron_variant MELA-AU 1 92593198 92593198 single base substitution C T intron_variant MELA-AU 1 92593248 92593248 single base substitution A G intron_variant MELA-AU 1 92593510 92593510 single base substitution C T intron_variant MELA-AU 1 92593654 92593654 single base substitution C T intron_variant MELA-AU 1 92593707 92593707 single base substitution C T intron_variant MELA-AU 1 92593838 92593838 single base substitution T A intron_variant MELA-AU 1 92593926 92593926 single base substitution C T intron_variant MELA-AU 1 92594047 92594047 single base substitution G A intron_variant MELA-AU 1 92594105 92594105 single base substitution G A intron_variant MELA-AU 1 92594295 92594295 single base substitution A T intron_variant MELA-AU 1 92594299 92594299 single base substitution C T intron_variant MELA-AU 1 92594353 92594353 single base substitution G A intron_variant MELA-AU 1 92594440 92594440 single base substitution C T intron_variant MELA-AU 1 92594603 92594603 single base substitution C T intron_variant MELA-AU 1 92594748 92594748 single base substitution G A intron_variant MELA-AU 1 92594951 92594951 single base substitution G A intron_variant MELA-AU 1 92595165 92595165 single base substitution G A intron_variant MELA-AU 1 92595309 92595318 deletion of <=200bp CCCAAGAGTA - frameshift_variant SQEY243 MELA-AU 1 92595441 92595441 single base substitution C A intron_variant MELA-AU 1 92595653 92595653 single base substitution C T intron_variant MELA-AU 1 92595702 92595702 single base substitution C T intron_variant MELA-AU 1 92595737 92595737 single base substitution T A intron_variant MELA-AU 1 92595742 92595742 single base substitution C T intron_variant MELA-AU 1 92595845 92595845 single base substitution G T intron_variant MELA-AU 1 92595865 92595865 single base substitution G A intron_variant MELA-AU 1 92595967 92595967 single base substitution C T intron_variant MELA-AU 1 92596021 92596021 single base substitution G A intron_variant MELA-AU 1 92596529 92596529 single base substitution G A intron_variant MELA-AU 1 92596654 92596654 single base substitution C T intron_variant MELA-AU 1 92596705 92596705 single base substitution C T intron_variant MELA-AU 1 92596910 92596910 single base substitution G A intron_variant MELA-AU 1 92597060 92597060 single base substitution C T intron_variant MELA-AU 1 92597208 92597208 single base substitution G A intron_variant MELA-AU 1 92597225 92597225 single base substitution G A intron_variant MELA-AU 1 92597272 92597272 single base substitution C A intron_variant MELA-AU 1 92597464 92597464 single base substitution A C intron_variant MELA-AU 1 92597512 92597512 single base substitution C T intron_variant MELA-AU 1 92597516 92597516 single base substitution C T intron_variant MELA-AU 1 92597537 92597537 single base substitution G A intron_variant MELA-AU 1 92597639 92597639 single base substitution G A intron_variant MELA-AU 1 92597769 92597769 single base substitution G A intron_variant MELA-AU 1 92597871 92597871 single base substitution C T intron_variant MELA-AU 1 92598112 92598112 single base substitution C T intron_variant MELA-AU 1 92598277 92598277 single base substitution G A intron_variant MELA-AU 1 92598473 92598473 single base substitution G A intron_variant MELA-AU 1 92598532 92598532 single base substitution C T intron_variant MELA-AU 1 92598870 92598870 single base substitution G A intron_variant MELA-AU 1 92598928 92598928 single base substitution C T intron_variant MELA-AU 1 92599119 92599119 single base substitution G A intron_variant MELA-AU 1 92599481 92599481 single base substitution C T intron_variant MELA-AU 1 92599586 92599586 single base substitution G A intron_variant MELA-AU 1 92599632 92599633 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 92599780 92599780 single base substitution G A intron_variant MELA-AU 1 92599782 92599782 single base substitution G A intron_variant MELA-AU 1 92599842 92599842 single base substitution C T intron_variant MELA-AU 1 92599922 92599922 single base substitution C T intron_variant MELA-AU 1 92600005 92600005 single base substitution C A intron_variant MELA-AU 1 92600305 92600305 single base substitution T A intron_variant MELA-AU 1 92600347 92600347 single base substitution C T intron_variant MELA-AU 1 92600354 92600354 single base substitution C T intron_variant MELA-AU 1 92600450 92600450 single base substitution T A intron_variant MELA-AU 1 92600753 92600753 single base substitution T A intron_variant MELA-AU 1 92601024 92601024 single base substitution C T intron_variant MELA-AU 1 92601025 92601025 single base substitution G A intron_variant MELA-AU 1 92601026 92601026 single base substitution G A intron_variant MELA-AU 1 92601059 92601059 single base substitution C T intron_variant MELA-AU 1 92601559 92601559 single base substitution T A intron_variant MELA-AU 1 92601604 92601604 single base substitution A G intron_variant MELA-AU 1 92601677 92601677 single base substitution G A intron_variant MELA-AU 1 92601848 92601848 single base substitution C T intron_variant MELA-AU 1 92601873 92601873 single base substitution C T intron_variant MELA-AU 1 92602112 92602112 single base substitution C T intron_variant MELA-AU 1 92602367 92602367 single base substitution G A intron_variant MELA-AU 1 92602506 92602506 single base substitution T A intron_variant MELA-AU 1 92602874 92602874 single base substitution T C intron_variant MELA-AU 1 92603341 92603341 single base substitution G A intron_variant MELA-AU 1 92603377 92603377 single base substitution C T intron_variant MELA-AU 1 92603386 92603386 single base substitution T A intron_variant MELA-AU 1 92603596 92603596 single base substitution C T intron_variant MELA-AU 1 92603792 92603792 single base substitution A G intron_variant MELA-AU 1 92603906 92603906 single base substitution C T intron_variant MELA-AU 1 92603971 92603971 single base substitution C T intron_variant MELA-AU 1 92604048 92604048 single base substitution C T intron_variant MELA-AU 1 92604253 92604253 single base substitution G A intron_variant MELA-AU 1 92604725 92604725 single base substitution C T intron_variant MELA-AU 1 92604759 92604759 single base substitution C T intron_variant MELA-AU 1 92604998 92604998 single base substitution C T intron_variant MELA-AU 1 92604998 92604998 single base substitution C T missense_variant L282F 844C>T MELA-AU 1 92605150 92605150 single base substitution C T 3_prime_UTR_variant MELA-AU 1 92605150 92605150 single base substitution C T intron_variant MELA-AU 1 92605311 92605311 single base substitution G A 3_prime_UTR_variant MELA-AU 1 92605311 92605311 single base substitution G A intron_variant MELA-AU 1 92605334 92605334 single base substitution G A 3_prime_UTR_variant MELA-AU 1 92605334 92605334 single base substitution G A intron_variant MELA-AU 1 92605465 92605465 single base substitution G A 3_prime_UTR_variant MELA-AU 1 92605465 92605465 single base substitution G A intron_variant MELA-AU 1 92605755 92605755 single base substitution G A downstream_gene_variant MELA-AU 1 92605755 92605755 single base substitution G A intron_variant MELA-AU 1 92605776 92605776 single base substitution C T downstream_gene_variant MELA-AU 1 92605776 92605776 single base substitution C T intron_variant MELA-AU 1 92605866 92605866 single base substitution G A downstream_gene_variant MELA-AU 1 92605866 92605866 single base substitution G A intron_variant MELA-AU 1 92605925 92605925 single base substitution G A downstream_gene_variant MELA-AU 1 92605925 92605925 single base substitution G A intron_variant MELA-AU 1 92606088 92606088 single base substitution G A downstream_gene_variant MELA-AU 1 92606088 92606088 single base substitution G A intron_variant MELA-AU 1 92606574 92606574 single base substitution C T downstream_gene_variant MELA-AU 1 92606574 92606574 single base substitution C T intron_variant MELA-AU 1 92606763 92606763 single base substitution C T downstream_gene_variant MELA-AU 1 92606763 92606763 single base substitution C T intron_variant MELA-AU 1 92606763 92606763 single base substitution C T stop_gained Q309* 925C>T MELA-AU 1 92606916 92606916 single base substitution C T downstream_gene_variant MELA-AU 1 92606916 92606916 single base substitution C T intron_variant MELA-AU 1 92607326 92607326 single base substitution G A downstream_gene_variant MELA-AU 1 92607326 92607326 single base substitution G A intron_variant MELA-AU 1 92607612 92607612 single base substitution C T downstream_gene_variant MELA-AU 1 92607612 92607612 single base substitution C T intron_variant MELA-AU 1 92607613 92607613 single base substitution G A downstream_gene_variant MELA-AU 1 92607613 92607613 single base substitution G A intron_variant MELA-AU 1 92607687 92607687 single base substitution C T downstream_gene_variant MELA-AU 1 92607687 92607687 single base substitution C T intron_variant MELA-AU 1 92607696 92607696 single base substitution C T downstream_gene_variant MELA-AU 1 92607696 92607696 single base substitution C T intron_variant MELA-AU 1 92607704 92607704 single base substitution G A downstream_gene_variant MELA-AU 1 92607704 92607704 single base substitution G A intron_variant MELA-AU 1 92607712 92607712 single base substitution C T downstream_gene_variant MELA-AU 1 92607712 92607712 single base substitution C T intron_variant MELA-AU 1 92607723 92607723 single base substitution C T downstream_gene_variant MELA-AU 1 92607723 92607723 single base substitution C T intron_variant MELA-AU 1 92608063 92608063 single base substitution G A downstream_gene_variant MELA-AU 1 92608063 92608063 single base substitution G A intron_variant MELA-AU 1 92608118 92608118 single base substitution G A downstream_gene_variant MELA-AU 1 92608118 92608118 single base substitution G A intron_variant MELA-AU 1 92608119 92608119 single base substitution G A downstream_gene_variant MELA-AU 1 92608119 92608119 single base substitution G A intron_variant MELA-AU 1 92608265 92608265 single base substitution C T downstream_gene_variant MELA-AU 1 92608265 92608265 single base substitution C T intron_variant MELA-AU 1 92608296 92608296 single base substitution C T downstream_gene_variant MELA-AU 1 92608296 92608296 single base substitution C T intron_variant MELA-AU 1 92608374 92608374 single base substitution G A downstream_gene_variant MELA-AU 1 92608374 92608374 single base substitution G A intron_variant MELA-AU 1 92608405 92608405 single base substitution G A downstream_gene_variant MELA-AU 1 92608405 92608405 single base substitution G A intron_variant MELA-AU 1 92608490 92608490 single base substitution C T downstream_gene_variant MELA-AU 1 92608490 92608490 single base substitution C T intron_variant MELA-AU 1 92608574 92608574 single base substitution G A downstream_gene_variant MELA-AU 1 92608574 92608574 single base substitution G A intron_variant MELA-AU 1 92608722 92608722 single base substitution G A downstream_gene_variant MELA-AU 1 92608722 92608722 single base substitution G A intron_variant MELA-AU 1 92609203 92609203 single base substitution G A downstream_gene_variant MELA-AU 1 92609203 92609203 single base substitution G A intron_variant MELA-AU 1 92609310 92609310 single base substitution C T downstream_gene_variant MELA-AU 1 92609310 92609310 single base substitution C T intron_variant MELA-AU 1 92609576 92609576 single base substitution C T downstream_gene_variant MELA-AU 1 92609576 92609576 single base substitution C T intron_variant MELA-AU 1 92609594 92609594 single base substitution G A downstream_gene_variant MELA-AU 1 92609594 92609594 single base substitution G A intron_variant MELA-AU 1 92609728 92609728 single base substitution A C downstream_gene_variant MELA-AU 1 92609728 92609728 single base substitution A C intron_variant MELA-AU 1 92609764 92609764 single base substitution C T downstream_gene_variant MELA-AU 1 92609764 92609764 single base substitution C T intron_variant MELA-AU 1 92609873 92609873 single base substitution C T downstream_gene_variant MELA-AU 1 92609873 92609873 single base substitution C T intron_variant MELA-AU 1 92609934 92609934 single base substitution G A downstream_gene_variant MELA-AU 1 92609934 92609934 single base substitution G A intron_variant MELA-AU 1 92609979 92609979 single base substitution C A downstream_gene_variant MELA-AU 1 92609979 92609979 single base substitution C A intron_variant MELA-AU 1 92610182 92610182 single base substitution G A downstream_gene_variant MELA-AU 1 92610182 92610182 single base substitution G A intron_variant MELA-AU 1 92610191 92610191 single base substitution C T downstream_gene_variant MELA-AU 1 92610191 92610191 single base substitution C T intron_variant MELA-AU 1 92610624 92610624 single base substitution G A intron_variant MELA-AU 1 92610860 92610860 single base substitution G A intron_variant MELA-AU 1 92611010 92611010 single base substitution G A intron_variant MELA-AU 1 92611212 92611212 single base substitution C T intron_variant MELA-AU 1 92611318 92611318 single base substitution C T intron_variant MELA-AU 1 92611320 92611320 single base substitution C G intron_variant MELA-AU 1 92611358 92611358 single base substitution G A intron_variant MELA-AU 1 92611446 92611446 single base substitution G A intron_variant MELA-AU 1 92611489 92611489 single base substitution G A intron_variant MELA-AU 1 92611912 92611912 single base substitution C T intron_variant MELA-AU 1 92612075 92612075 single base substitution G A intron_variant MELA-AU 1 92612124 92612124 single base substitution G A intron_variant MELA-AU 1 92612133 92612133 single base substitution C T intron_variant MELA-AU 1 92612178 92612178 single base substitution C T intron_variant MELA-AU 1 92612292 92612292 single base substitution C T intron_variant MELA-AU 1 92612806 92612806 single base substitution C T 3_prime_UTR_variant MELA-AU 1 92612806 92612806 single base substitution C T missense_variant L334F 1000C>T MELA-AU 1 92613103 92613103 single base substitution C T intron_variant MELA-AU 1 92613114 92613114 single base substitution T A intron_variant MELA-AU 1 92613116 92613116 single base substitution C T intron_variant MELA-AU 1 92613240 92613240 single base substitution G A splice_acceptor_variant MELA-AU 1 92613364 92613364 single base substitution C T 3_prime_UTR_variant MELA-AU 1 92613364 92613364 single base substitution C T downstream_gene_variant MELA-AU 1 92613739 92613739 single base substitution G A downstream_gene_variant MELA-AU 1 92613799 92613799 single base substitution G A downstream_gene_variant MELA-AU 1 92613814 92613814 single base substitution C T downstream_gene_variant MELA-AU 1 92613837 92613837 single base substitution G A downstream_gene_variant MELA-AU 1 92613966 92613966 single base substitution C T downstream_gene_variant MELA-AU 1 92613977 92613977 single base substitution G A downstream_gene_variant MELA-AU 1 92614127 92614127 single base substitution G A downstream_gene_variant MELA-AU 1 92614503 92614503 single base substitution C T downstream_gene_variant MELA-AU 1 92614543 92614543 single base substitution G A downstream_gene_variant MELA-AU 1 92614572 92614572 single base substitution C T downstream_gene_variant MELA-AU 1 92614791 92614791 single base substitution C T downstream_gene_variant MELA-AU 1 92614943 92614943 single base substitution G A downstream_gene_variant MELA-AU 1 92615110 92615110 single base substitution C T downstream_gene_variant MELA-AU 1 92615180 92615180 single base substitution G A downstream_gene_variant MELA-AU 1 92615228 92615228 single base substitution G A downstream_gene_variant MELA-AU 1 92615342 92615342 single base substitution C T downstream_gene_variant MELA-AU 1 92615376 92615376 single base substitution G A downstream_gene_variant MELA-AU 1 92615457 92615457 single base substitution C T downstream_gene_variant MELA-AU 1 92615511 92615511 single base substitution C T downstream_gene_variant MELA-AU 1 92615794 92615794 single base substitution C T downstream_gene_variant MELA-AU 1 92615804 92615804 single base substitution C T downstream_gene_variant MELA-AU 1 92615815 92615815 single base substitution C T downstream_gene_variant MELA-AU 1 92616039 92616039 single base substitution G A downstream_gene_variant MELA-AU 1 92616100 92616100 single base substitution G A downstream_gene_variant MELA-AU 1 92616123 92616123 single base substitution C T downstream_gene_variant MELA-AU 1 92616300 92616300 single base substitution C T downstream_gene_variant MELA-AU 1 92616316 92616316 single base substitution C T downstream_gene_variant MELA-AU 1 92616322 92616322 single base substitution G A downstream_gene_variant MELA-AU 1 92616509 92616509 single base substitution C T downstream_gene_variant MELA-AU 1 92616676 92616676 single base substitution G A downstream_gene_variant MELA-AU 1 92616686 92616686 single base substitution G A downstream_gene_variant MELA-AU 1 92616794 92616794 single base substitution C T downstream_gene_variant MELA-AU 1 92617102 92617103 multiple base substitution (>=2bp and <=200bp) AA TT downstream_gene_variant MELA-AU 1 92617267 92617267 single base substitution C T downstream_gene_variant MELA-AU 1 92617278 92617278 single base substitution C T downstream_gene_variant MELA-AU 1 92617371 92617371 single base substitution C T downstream_gene_variant MELA-AU 1 92617372 92617372 single base substitution C T downstream_gene_variant MELA-AU 1 92617376 92617376 single base substitution C T downstream_gene_variant MELA-AU 1 92617558 92617558 single base substitution G A downstream_gene_variant MELA-AU 1 92617588 92617588 single base substitution T C downstream_gene_variant MELA-AU 1 92617781 92617781 single base substitution G A downstream_gene_variant MELA-AU 1 92617790 92617790 single base substitution G A downstream_gene_variant MELA-AU 1 92618011 92618011 single base substitution G A downstream_gene_variant MELA-AU 1 92618120 92618120 single base substitution G A downstream_gene_variant MELA-AU 1 92618288 92618288 single base substitution C T downstream_gene_variant ORCA-IN 1 92542145 92542145 single base substitution G T upstream_gene_variant ORCA-IN 1 92554008 92554008 single base substitution G A intron_variant ORCA-IN 1 92562169 92562169 single base substitution G T intron_variant OV-AU 1 92553235 92553235 single base substitution C T intron_variant OV-AU 1 92553550 92553550 single base substitution A T intron_variant OV-AU 1 92554132 92554132 single base substitution T A intron_variant OV-AU 1 92556009 92556009 single base substitution A G intron_variant OV-AU 1 92556499 92556499 single base substitution A T intron_variant OV-AU 1 92560415 92560415 single base substitution C G intron_variant OV-AU 1 92570316 92570316 single base substitution T C intron_variant OV-AU 1 92574816 92574816 single base substitution T C intron_variant OV-AU 1 92575543 92575543 single base substitution A T intron_variant OV-AU 1 92585117 92585117 single base substitution G T intron_variant OV-AU 1 92585518 92585518 single base substitution C T intron_variant OV-AU 1 92586566 92586566 single base substitution C T intron_variant OV-AU 1 92586972 92586972 single base substitution A G intron_variant OV-AU 1 92610754 92610754 single base substitution C A intron_variant OV-AU 1 92611157 92611157 single base substitution T C intron_variant PACA-AU 1 92541320 92541320 single base substitution G A upstream_gene_variant PACA-AU 1 92541321 92541321 single base substitution C A upstream_gene_variant PACA-AU 1 92542377 92542377 single base substitution T A upstream_gene_variant PACA-AU 1 92547028 92547028 single base substitution C A intron_variant PACA-AU 1 92553820 92553820 insertion of <=200bp - AATA intron_variant PACA-AU 1 92555500 92555500 single base substitution A C intron_variant PACA-AU 1 92556937 92556937 single base substitution C A intron_variant PACA-AU 1 92562217 92562217 single base substitution C T intron_variant PACA-AU 1 92563637 92563637 single base substitution G A intron_variant PACA-AU 1 92565398 92565398 single base substitution G A intron_variant PACA-AU 1 92572209 92572209 single base substitution C G intron_variant PACA-AU 1 92573633 92573633 single base substitution C T intron_variant PACA-AU 1 92574812 92574812 single base substitution T C intron_variant PACA-AU 1 92577928 92577928 single base substitution C T intron_variant PACA-AU 1 92587117 92587141 deletion of <=200bp TTATAGTTAAGTATATTGAGTTAGA - intron_variant PACA-AU 1 92590530 92590530 single base substitution G T intron_variant PACA-AU 1 92592747 92592747 single base substitution C A intron_variant PACA-AU 1 92593152 92593152 single base substitution G C intron_variant PACA-AU 1 92604666 92604666 single base substitution C T intron_variant PACA-AU 1 92605827 92605827 single base substitution C A downstream_gene_variant PACA-AU 1 92605827 92605827 single base substitution C A intron_variant PACA-AU 1 92606745 92606745 single base substitution G C downstream_gene_variant PACA-AU 1 92606745 92606745 single base substitution G C intron_variant PACA-AU 1 92606745 92606745 single base substitution G C missense_variant D303H 907G>C PACA-AU 1 92609316 92609316 single base substitution A G downstream_gene_variant PACA-AU 1 92609316 92609316 single base substitution A G intron_variant PACA-AU 1 92612517 92612517 single base substitution A T intron_variant PACA-AU 1 92614612 92614612 single base substitution G A downstream_gene_variant PACA-AU 1 92616239 92616239 single base substitution G A downstream_gene_variant PACA-AU 1 92616837 92616837 single base substitution G T downstream_gene_variant PACA-CA 1 92544043 92544043 single base substitution C T upstream_gene_variant PACA-CA 1 92549752 92549759 deletion of <=200bp GTGCGGTA - intron_variant PACA-CA 1 92554028 92554028 single base substitution T A intron_variant PACA-CA 1 92556367 92556367 single base substitution T C intron_variant PACA-CA 1 92556499 92556499 single base substitution A T intron_variant PACA-CA 1 92557105 92557105 single base substitution A T intron_variant PACA-CA 1 92562569 92562569 single base substitution C T intron_variant PACA-CA 1 92564146 92564146 single base substitution T A intron_variant PACA-CA 1 92566341 92566341 single base substitution T G intron_variant PACA-CA 1 92566409 92566409 single base substitution G A intron_variant PACA-CA 1 92569530 92569530 single base substitution C T intron_variant PACA-CA 1 92569895 92569895 single base substitution A G intron_variant PACA-CA 1 92571007 92571007 single base substitution C T intron_variant PACA-CA 1 92573633 92573633 single base substitution C T intron_variant PACA-CA 1 92576351 92576351 single base substitution C T intron_variant PACA-CA 1 92578785 92578785 single base substitution A G intron_variant PACA-CA 1 92578952 92578952 single base substitution G T intron_variant PACA-CA 1 92583279 92583279 single base substitution A G intron_variant PACA-CA 1 92583336 92583336 single base substitution C T intron_variant PACA-CA 1 92585547 92585569 deletion of <=200bp TCCTGGGTTCAAGCAATTCGCCT - intron_variant PACA-CA 1 92585748 92585748 single base substitution C A intron_variant PACA-CA 1 92587695 92587695 single base substitution T C intron_variant PACA-CA 1 92592547 92592547 single base substitution A G intron_variant PACA-CA 1 92592858 92592858 single base substitution G C intron_variant PACA-CA 1 92592943 92592943 single base substitution C A intron_variant PACA-CA 1 92595671 92595671 single base substitution C T intron_variant PACA-CA 1 92595925 92595925 single base substitution A C intron_variant PACA-CA 1 92597858 92597858 single base substitution G C intron_variant PACA-CA 1 92607344 92607344 single base substitution G A downstream_gene_variant PACA-CA 1 92607344 92607344 single base substitution G A intron_variant PACA-CA 1 92614181 92614181 single base substitution G C downstream_gene_variant PACA-CA 1 92618082 92618082 single base substitution A G downstream_gene_variant PAEN-AU 1 92587111 92587111 single base substitution C A intron_variant PAEN-AU 1 92587433 92587433 single base substitution A C intron_variant PAEN-AU 1 92594122 92594122 single base substitution A C intron_variant PAEN-AU 1 92602055 92602055 single base substitution C T intron_variant PAEN-AU 1 92606024 92606024 deletion of <=200bp C - downstream_gene_variant PAEN-AU 1 92606024 92606024 deletion of <=200bp C - intron_variant PAEN-AU 1 92617435 92617435 single base substitution A G downstream_gene_variant PAEN-IT 1 92547056 92547056 single base substitution A G intron_variant PAEN-IT 1 92550432 92550432 single base substitution C A intron_variant PBCA-DE 1 92541601 92541601 insertion of <=200bp - A upstream_gene_variant PBCA-DE 1 92545193 92545193 single base substitution C T upstream_gene_variant PBCA-DE 1 92547169 92547169 single base substitution C G intron_variant PBCA-DE 1 92552228 92552230 deletion of <=200bp AAG - intron_variant PBCA-DE 1 92552863 92552863 single base substitution G A intron_variant PBCA-DE 1 92573642 92573642 single base substitution T A intron_variant PBCA-DE 1 92574809 92574809 single base substitution C T intron_variant PBCA-DE 1 92576997 92576997 single base substitution T A intron_variant PBCA-DE 1 92585410 92585410 single base substitution C T intron_variant PBCA-DE 1 92588344 92588344 single base substitution A G intron_variant PBCA-DE 1 92607145 92607145 single base substitution A G downstream_gene_variant PBCA-DE 1 92607145 92607145 single base substitution A G intron_variant PBCA-DE 1 92617745 92617745 single base substitution C T downstream_gene_variant PRAD-CA 1 92546818 92546818 single base substitution C T intron_variant PRAD-CA 1 92581730 92581730 single base substitution T A intron_variant PRAD-CA 1 92583527 92583527 single base substitution G A intron_variant PRAD-CA 1 92588902 92588902 single base substitution T C intron_variant PRAD-CA 1 92598628 92598628 single base substitution T G intron_variant PRAD-UK 1 92543978 92543978 single base substitution G T upstream_gene_variant PRAD-UK 1 92543979 92543979 single base substitution T A upstream_gene_variant PRAD-UK 1 92554022 92554025 deletion of <=200bp ACTC - intron_variant PRAD-UK 1 92566824 92566824 single base substitution C A intron_variant PRAD-UK 1 92588111 92588111 single base substitution G T intron_variant PRAD-UK 1 92603185 92603185 single base substitution A T intron_variant PRAD-UK 1 92611641 92611641 single base substitution A T intron_variant READ-US 1 92604920 92604920 single base substitution G T stop_gained E256* 766G>T RECA-EU 1 92540905 92540905 single base substitution G C upstream_gene_variant RECA-EU 1 92540948 92540948 single base substitution A G upstream_gene_variant RECA-EU 1 92542434 92542434 single base substitution G T upstream_gene_variant RECA-EU 1 92555815 92555815 single base substitution G A intron_variant RECA-EU 1 92561256 92561256 single base substitution T G intron_variant RECA-EU 1 92570363 92570363 single base substitution T G intron_variant RECA-EU 1 92598972 92598972 single base substitution A T intron_variant RECA-EU 1 92607068 92607068 single base substitution T A downstream_gene_variant RECA-EU 1 92607068 92607068 single base substitution T A intron_variant RECA-EU 1 92607941 92607941 single base substitution A C downstream_gene_variant RECA-EU 1 92607941 92607941 single base substitution A C intron_variant RECA-EU 1 92613641 92613641 single base substitution C A downstream_gene_variant RECA-EU 1 92614255 92614255 single base substitution C A downstream_gene_variant SKCA-BR 1 92543294 92543294 single base substitution G A upstream_gene_variant SKCA-BR 1 92544323 92544323 single base substitution C T upstream_gene_variant SKCA-BR 1 92545066 92545067 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 1 92546364 92546364 single base substitution C T intron_variant SKCA-BR 1 92546365 92546365 single base substitution C T intron_variant SKCA-BR 1 92547351 92547351 single base substitution G A intron_variant SKCA-BR 1 92549288 92549288 single base substitution G A intron_variant SKCA-BR 1 92550351 92550351 single base substitution G A intron_variant SKCA-BR 1 92550697 92550697 single base substitution G A intron_variant SKCA-BR 1 92550730 92550730 single base substitution C T intron_variant SKCA-BR 1 92550888 92550888 single base substitution C T intron_variant SKCA-BR 1 92551358 92551358 single base substitution A G intron_variant SKCA-BR 1 92552686 92552686 single base substitution G A intron_variant SKCA-BR 1 92552886 92552886 single base substitution G A intron_variant SKCA-BR 1 92556504 92556504 single base substitution T G intron_variant SKCA-BR 1 92556715 92556715 single base substitution C T intron_variant SKCA-BR 1 92557046 92557046 single base substitution A G intron_variant SKCA-BR 1 92558744 92558744 insertion of <=200bp - AT intron_variant SKCA-BR 1 92558774 92558774 single base substitution A G intron_variant SKCA-BR 1 92561523 92561523 single base substitution T A intron_variant SKCA-BR 1 92561865 92561865 single base substitution C T intron_variant SKCA-BR 1 92562279 92562279 single base substitution G A intron_variant SKCA-BR 1 92562409 92562409 single base substitution C T intron_variant SKCA-BR 1 92564277 92564277 single base substitution T C intron_variant SKCA-BR 1 92564942 92564942 single base substitution C T intron_variant SKCA-BR 1 92565080 92565080 single base substitution C T intron_variant SKCA-BR 1 92568906 92568906 single base substitution G A intron_variant SKCA-BR 1 92569019 92569019 single base substitution C T intron_variant SKCA-BR 1 92569089 92569089 single base substitution C T intron_variant SKCA-BR 1 92571130 92571130 single base substitution C T intron_variant SKCA-BR 1 92571381 92571381 single base substitution T A intron_variant SKCA-BR 1 92571745 92571745 single base substitution T G intron_variant SKCA-BR 1 92571892 92571892 single base substitution C T intron_variant SKCA-BR 1 92572116 92572116 single base substitution G A intron_variant SKCA-BR 1 92573721 92573721 single base substitution C T intron_variant SKCA-BR 1 92574672 92574672 single base substitution C T intron_variant SKCA-BR 1 92575412 92575412 single base substitution C T intron_variant SKCA-BR 1 92575490 92575490 single base substitution G A intron_variant SKCA-BR 1 92576991 92576991 single base substitution A C intron_variant SKCA-BR 1 92577888 92577888 single base substitution G A intron_variant SKCA-BR 1 92579568 92579569 deletion of <=200bp CA - intron_variant SKCA-BR 1 92580331 92580331 single base substitution C T intron_variant SKCA-BR 1 92581074 92581074 single base substitution C T intron_variant SKCA-BR 1 92582778 92582778 single base substitution C T intron_variant SKCA-BR 1 92584360 92584360 single base substitution C T intron_variant SKCA-BR 1 92584459 92584459 insertion of <=200bp - CTG intron_variant SKCA-BR 1 92584836 92584836 single base substitution C T intron_variant SKCA-BR 1 92585040 92585040 single base substitution C T intron_variant SKCA-BR 1 92585189 92585189 insertion of <=200bp - CT intron_variant SKCA-BR 1 92585692 92585692 single base substitution A C intron_variant SKCA-BR 1 92587297 92587297 single base substitution A C intron_variant SKCA-BR 1 92587469 92587469 single base substitution C T intron_variant SKCA-BR 1 92588259 92588259 single base substitution T C intron_variant SKCA-BR 1 92588336 92588336 single base substitution G A intron_variant SKCA-BR 1 92588745 92588745 single base substitution C T intron_variant SKCA-BR 1 92589313 92589313 single base substitution G A intron_variant SKCA-BR 1 92589854 92589854 single base substitution C G intron_variant SKCA-BR 1 92591857 92591857 single base substitution G A intron_variant SKCA-BR 1 92592061 92592062 deletion of <=200bp TC - intron_variant SKCA-BR 1 92594170 92594170 single base substitution T G intron_variant SKCA-BR 1 92595702 92595702 single base substitution C T intron_variant SKCA-BR 1 92595875 92595875 single base substitution G A intron_variant SKCA-BR 1 92595920 92595920 single base substitution C G intron_variant SKCA-BR 1 92596077 92596078 deletion of <=200bp AT - intron_variant SKCA-BR 1 92596079 92596080 deletion of <=200bp AT - intron_variant SKCA-BR 1 92596080 92596080 single base substitution T A intron_variant SKCA-BR 1 92596520 92596520 single base substitution C A intron_variant SKCA-BR 1 92596845 92596845 single base substitution C T intron_variant SKCA-BR 1 92597280 92597280 insertion of <=200bp - CA intron_variant SKCA-BR 1 92597693 92597693 single base substitution A G intron_variant SKCA-BR 1 92597764 92597764 single base substitution C T intron_variant SKCA-BR 1 92598138 92598138 single base substitution C T intron_variant SKCA-BR 1 92598763 92598763 single base substitution C T intron_variant SKCA-BR 1 92598852 92598852 single base substitution T G intron_variant SKCA-BR 1 92599526 92599526 insertion of <=200bp - CA intron_variant SKCA-BR 1 92599686 92599694 deletion of <=200bp GAAGGAACT - intron_variant SKCA-BR 1 92599687 92599687 single base substitution A T intron_variant SKCA-BR 1 92599689 92599697 deletion of <=200bp GGAACTCCA - intron_variant SKCA-BR 1 92599695 92599695 single base substitution C T intron_variant SKCA-BR 1 92599696 92599696 single base substitution C T intron_variant SKCA-BR 1 92599697 92599697 single base substitution A T intron_variant SKCA-BR 1 92600340 92600340 single base substitution G A intron_variant SKCA-BR 1 92602355 92602355 single base substitution C T intron_variant SKCA-BR 1 92603061 92603069 deletion of <=200bp ACCTCAGGT - intron_variant SKCA-BR 1 92603070 92603070 single base substitution T A intron_variant SKCA-BR 1 92603438 92603438 single base substitution T G intron_variant SKCA-BR 1 92605379 92605379 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 92605379 92605379 single base substitution C T intron_variant SKCA-BR 1 92607948 92607948 single base substitution C T downstream_gene_variant SKCA-BR 1 92607948 92607948 single base substitution C T intron_variant SKCA-BR 1 92608537 92608537 single base substitution C T downstream_gene_variant SKCA-BR 1 92608537 92608537 single base substitution C T intron_variant SKCA-BR 1 92608566 92608566 single base substitution T A downstream_gene_variant SKCA-BR 1 92608566 92608566 single base substitution T A intron_variant SKCA-BR 1 92610994 92610994 single base substitution G A intron_variant SKCA-BR 1 92611537 92611537 insertion of <=200bp - CA intron_variant SKCA-BR 1 92612088 92612088 single base substitution T A intron_variant SKCA-BR 1 92612317 92612317 single base substitution C T intron_variant SKCA-BR 1 92615113 92615113 single base substitution C T downstream_gene_variant SKCA-BR 1 92616034 92616034 single base substitution T G downstream_gene_variant SKCA-BR 1 92616738 92616738 single base substitution C T downstream_gene_variant SKCA-BR 1 92616909 92616909 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 1 92617705 92617705 single base substitution G A downstream_gene_variant SKCA-BR 1 92617911 92617911 single base substitution C T downstream_gene_variant SKCM-US 1 92554330 92554330 single base substitution C T synonymous_variant V75V 225C>T SKCM-US 1 92554331 92554331 single base substitution C T missense_variant L76F 226C>T SKCM-US 1 92568084 92568084 single base substitution G A synonymous_variant R134R 402G>A SKCM-US 1 92568110 92568110 single base substitution C T missense_variant S143L 428C>T SKCM-US 1 92568184 92568184 single base substitution C T missense_variant P168S 502C>T SKCM-US 1 92568189 92568189 single base substitution G A synonymous_variant E169E 507G>A SKCM-US 1 92573455 92573455 single base substitution G A missense_variant E187K 559G>A SKCM-US 1 92573483 92573483 single base substitution T A stop_gained L196* 587T>A SKCM-US 1 92606763 92606763 single base substitution C T downstream_gene_variant SKCM-US 1 92606763 92606763 single base substitution C T intron_variant SKCM-US 1 92606763 92606763 single base substitution C T stop_gained Q309* 925C>T SKCM-US 1 92612806 92612806 single base substitution C T 3_prime_UTR_variant SKCM-US 1 92612806 92612806 single base substitution C T missense_variant L334F 1000C>T SKCM-US 1 92612820 92612820 single base substitution C A 3_prime_UTR_variant SKCM-US 1 92612820 92612820 single base substitution C A stop_gained C338* 1014C>A SKCM-US 1 92613243 92613243 single base substitution G A splice_region_variant SKCM-US 1 92613243 92613243 single base substitution G A stop_gained W341* 1022G>A STAD-US 1 92568094 92568094 single base substitution A G missense_variant M138V 412A>G STAD-US 1 92568203 92568203 single base substitution G T missense_variant R174I 521G>T STAD-US 1 92573497 92573497 single base substitution G T missense_variant V201L 601G>T STAD-US 1 92595319 92595319 single base substitution C T synonymous_variant Y246Y 738C>T UCEC-US 1 92546141 92546141 single base substitution G T missense_variant G5W 13G>T UCEC-US 1 92554363 92554363 single base substitution T A missense_variant H86Q 258T>A UCEC-US 1 92554375 92554375 single base substitution G T missense_variant Q90H 270G>T UCEC-US 1 92606759 92606759 single base substitution C T downstream_gene_variant UCEC-US 1 92606759 92606759 single base substitution C T intron_variant UCEC-US 1 92606759 92606759 single base substitution C T synonymous_variant F307F 921C>T UCEC-US 1 92612780 92612780 single base substitution T C 3_prime_UTR_variant UCEC-US 1 92612780 92612780 single base substitution T C missense_variant I325T 974T>C UCEC-US 1 92612806 92612806 single base substitution C A 3_prime_UTR_variant UCEC-US 1 92612806 92612806 single base substitution C A missense_variant L334I 1000C>A UCEC-US 1 92613245 92613245 single base substitution A C 3_prime_UTR_variant UCEC-US 1 92613245 92613245 single base substitution A C missense_variant I342L 1024A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-66-2777-01 COSM682714 c.1023G>T p.W341C Substitution - Missense 1:92147687-92147687 + T1182 COSM4666357 c.316G>A p.V106I Substitution - Missense 1:92088864-92088864 + TCGA-AB-2994-03 COSM166462 c.975T>A p.I325I Substitution - coding silent 1:92147224-92147224 + tumor_4160100 COSM5949259 c.51C>T p.S17S Substitution - coding silent 1:92080622-92080622 + TCGA-EE-A3JA-06 COSM3493345 c.428C>T p.S143L Substitution - Missense 1:92102553-92102553 + Pat_41_B COSM5847488 c.800G>A p.G267E Substitution - Missense 1:92139397-92139397 + C086 COSM5527449 c.666C>T p.A222A Substitution - coding silent 1:92129690-92129690 + TCGA-D7-8579-01 COSM4010597 c.601G>T p.V201L Substitution - Missense 1:92107940-92107940 + TCGA-D9-A6EC-06 COSM4400128 c.1000C>T p.L334F Substitution - Missense 1:92147249-92147249 + PD4123a COSM159432 c.721G>A p.E241K Substitution - Missense 1:92129745-92129745 + YUKAT COSM4242724 c.1078C>T p.P360S Substitution - Missense 1:92147742-92147742 + TCGA-D1-A15X-01 COSM913265 c.974T>C p.I325T Substitution - Missense 1:92147223-92147223 + YUQUEST COSM5381699 c.508G>A p.D170N Substitution - Missense 1:92102633-92102633 + TCGA-F5-6814-01 COSM3419572 c.766G>T p.E256* Substitution - Nonsense 1:92139363-92139363 + RK091_C01 COSM1627250 c.951G>A p.T317T Substitution - coding silent 1:92147200-92147200 + TCGA-18-3419-01 COSM682715 c.957A>G p.I319M Substitution - Missense 1:92147206-92147206 + LUAD-S01357 COSM386084 c.976G>T p.A326S Substitution - Missense 1:92147225-92147225 + CHC1152T COSM4791204 c.794A>T p.Y265F Substitution - Missense 1:92139391-92139391 + TCGA-EE-A2MU-06 COSM3493351 c.587T>A p.L196* Substitution - Nonsense 1:92107926-92107926 + TCGA-13-0904-01 COSM69856 c.408G>T p.K136N Substitution - Missense 1:92102533-92102533 + TCGA-D9-A6EC-06 COSM4400109 c.1022G>A p.W341* Substitution - Nonsense 1:92147686-92147686 + sysucc-1163T COSM5458729 c.135C>A p.S45R Substitution - Missense 1:92080706-92080706 + TCGA-EU-5905-01 COSM465088 c.167T>G p.F56C Substitution - Missense 1:92088715-92088715 + Z138 COSM1738492 c.608C>A p.P203H Substitution - Missense 1:92107947-92107947 + ESCC_140 COSM5643327 c.902G>T p.R301I Substitution - Missense 1:92141183-92141183 + TCGA-ER-A19G-06 COSM3493343 c.226C>T p.L76F Substitution - Missense 1:92088774-92088774 + 585258 COSM318957 c.550T>A p.Y184N Substitution - Missense 1:92107889-92107889 + TCGA-DB-5274-01 COSM3966805 c.40C>T p.L14F Substitution - Missense 1:92080611-92080611 + TCGA-B9-5155-01 COSM3985296 c.953C>G p.S318C Substitution - Missense 1:92147202-92147202 + TCGA-IR-A3LK-01 COSM4817612 c.335G>C p.R112T Substitution - Missense 1:92088883-92088883 + TCGA-EE-A184-06 COSM3493353 c.1014C>A p.C338* Substitution - Nonsense 1:92147263-92147263 + P104 COSM1736346 c.479G>T p.C160F Substitution - Missense 1:92102604-92102604 + PT15_1 COSM5847488 c.800G>A p.G267E Substitution - Missense 1:92139397-92139397 + Gp5D COSM2259894 c.38T>C p.V13A Substitution - Missense 1:92080609-92080609 + H838 COSM1193104 c.734A>C p.E245A Substitution - Missense 1:92129758-92129758 + TCGA-EE-A182-06 COSM3493347 c.502C>T p.P168S Substitution - Missense 1:92102627-92102627 + CHC1531T COSM4804903 c.251A>G p.Y84C Substitution - Missense 1:92088799-92088799 + YUFERY COSM5381697 c.71G>A p.G24E Substitution - Missense 1:92080642-92080642 + PT08_1 COSM5892529 c.663-8C>T p.? Unknown 1:92129679-92129679 + CSCC-62-T COSM3866244 c.925C>T p.Q309* Substitution - Nonsense 1:92141206-92141206 + TCGA-AZ-4315-01 COSM1344889 c.312G>T p.E104D Substitution - Missense 1:92088860-92088860 + 587376 COSM1185040 c.646C>T p.R216C Substitution - Missense 1:92107985-92107985 + TCGA-D3-A1Q5-06 COSM3493349 c.559G>A p.E187K Substitution - Missense 1:92107898-92107898 + PD11383a COSM5801834 c.596delT p.Y200fs*2 Deletion - Frameshift 1:92107935-92107935 + STC246 COSM5053750 c.339G>A p.T113T Substitution - coding silent 1:92088887-92088887 + YUKLAB COSM1688039 c.391G>A p.E131K Substitution - Missense 1:92102516-92102516 + CSCC-30-T COSM4506751 c.728C>T p.S243F Substitution - Missense 1:92129752-92129752 + HCC2998 COSM2259899 c.377A>C p.K126T Substitution - Missense 1:92102502-92102502 + TCGA-D1-A103-01 COSM913262 c.270G>T p.Q90H Substitution - Missense 1:92088818-92088818 + Pat_66_A COSM5847484 c.496G>A p.E166K Substitution - Missense 1:92102621-92102621 + RK259_C01 COSM4944632 c.673A>T p.S225C Substitution - Missense 1:92129697-92129697 + TCGA-BR-4257-01 COSM4010593 c.412A>G p.M138V Substitution - Missense 1:92102537-92102537 + 71 COSM5010571 c.829G>A p.V277I Substitution - Missense 1:92139426-92139426 + TCGA-EK-A2PM-01 COSM4831672 c.1058G>T p.R353I Substitution - Missense 1:92147722-92147722 + S01542 COSM5669481 c.327A>G p.L109L Substitution - coding silent 1:92088875-92088875 + CHC1531T COSM4804903 c.251A>G p.Y84C Substitution - Missense 1:92088799-92088799 + TCGA-GF-A6C9-06 COSM4903206 c.402G>A p.R134R Substitution - coding silent 1:92102527-92102527 + TCGA-AX-A06H-01 COSM913260 c.13G>T p.G5W Substitution - Missense 1:92080584-92080584 + C086 COSM5527448 c.994G>A p.E332K Substitution - Missense 1:92147243-92147243 + CHC1152T COSM4791204 c.794A>T p.Y265F Substitution - Missense 1:92139391-92139391 + TCGA-DI-A0WH-01 COSM913263 c.787T>C p.F263L Substitution - Missense 1:92139384-92139384 + TCGA-CG-5723-01 COSM4010599 c.738C>T p.Y246Y Substitution - coding silent 1:92129762-92129762 + KYSE-150 COSM2259907 c.741T>G p.V247V Substitution - coding silent 1:92129765-92129765 + AML9 COSM166462 c.975T>A p.I325I Substitution - coding silent 1:92147224-92147224 + Pat_41_B COSM5847486 c.784C>T p.H262Y Substitution - Missense 1:92139381-92139381 + TCGA-66-2770-01 COSM682716 c.149+2T>A p.? Unknown 1:92080722-92080722 + TCGA-AX-A0J0-01 COSM913266 c.1000C>A p.L334I Substitution - Missense 1:92147249-92147249 + TCGA-FW-A3R5-06 COSM3866244 c.925C>T p.Q309* Substitution - Nonsense 1:92141206-92141206 + ESCC_140 COSM5643328 c.905G>A p.R302K Substitution - Missense 1:92141186-92141186 + TCGA-DU-8158-01 COSM3966807 c.871G>T p.G291* Substitution - Nonsense 1:92141152-92141152 + Gp2D COSM2259894 c.38T>C p.V13A Substitution - Missense 1:92080609-92080609 + C391 COSM4441582 c.52G>A p.A18T Substitution - Missense 1:92080623-92080623 + BCM257T COSM4951554 c.819C>T p.D273D Substitution - coding silent 1:92139416-92139416 + TCGA-AA-3510-01 COSM1344888 c.270G>A p.Q90Q Substitution - coding silent 1:92088818-92088818 + 8035125 COSM3386394 c.907G>C p.D303H Substitution - Missense 1:92141188-92141188 + ESO-752 COSM1246302 c.223G>A p.V75I Substitution - Missense 1:92088771-92088771 + TCGA-FW-A3R5-06 COSM3866242 c.507G>A p.E169E Substitution - coding silent 1:92102632-92102632 + TCGA-D7-A4YV-01 COSM4010595 c.521G>T p.R174I Substitution - Missense 1:92102646-92102646 + BCM257T COSM4951554 c.819C>T p.D273D Substitution - coding silent 1:92139416-92139416 + TCGA-D9-A6EC-06 COSM4401614 c.225C>T p.V75V Substitution - coding silent 1:92088773-92088773 + TCGA-AP-A056-01 COSM913264 c.921C>T p.F307F Substitution - coding silent 1:92141202-92141202 + pfg060T COSM4758819 c.197G>C p.C66S Substitution - Missense 1:92088745-92088745 + TCGA-85-6561-01 COSM682717 c.97C>A p.R33R Substitution - coding silent 1:92080668-92080668 + TCGA-BP-4770-01 COSM465089 c.757A>G p.S253G Substitution - Missense 1:92139354-92139354 + TCGA-B5-A0JY-01 COSM913267 c.1024A>C p.I342L Substitution - Missense 1:92147688-92147688 + TCGA-AX-A060-01 COSM913261 c.258T>A p.H86Q Substitution - Missense 1:92088806-92088806 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.676073;Hs.676074;Hs.676075;Hs.676076;Hs.676077;Hs.676078;Hs.676079;Hs.676081;Hs.676082;Hs.676083;Hs.676084;Hs.676085;Hs.676086;Hs.676087;Hs.676088;Hs.676089;Hs.676090;Hs.676091;Hs.676093;Hs.676094;Hs.676095;Hs.676096;Hs.676097;Hs.676098;Hs.676099;Hs.676100;Hs.676101;Hs.676102 1p22.1 603409

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I319M c.957A>G 1 92612763 LUSC A G Missense p.M138V c.412A>G 1 92568094 STAD A G Missense p.Y265C c.794A>G 1 92604948 HNSC C A Missense p.L320I c.958C>A 1 92612764 COREAD C A Nonsense p.C338* c.1014C>A 1 92612820 CM C A Synonymous p.R33R c.97C>A 1 92546225 LUSC C G 5-UTRSNV . c.1-66C>G 1 92546063 ESCA C T IntronicSNV . c.662+6860C>T 1 92580418 CM C T IntronicSNV . c.662+7397C>T 1 92580955 CM C T IntronicSNV . c.663-3841C>T 1 92591403 CM C T IntronicSNV . c.833+11C>T 1 92604998 CM C T Missense p.L14F c.40C>T 1 92546168 LGG C T Missense p.L76F c.226C>T 1 92554331 CM C T Missense p.P168S c.502C>T 1 92568184 CM C T Missense p.S143L c.428C>T 1 92568110 CM C T Nonsense p.Q116* c.346C>T 1 92554451 LUAD G A 5-UTRSNV . c.1-29G>A 1 92546100 ESCA G A IntronicSNV . c.662+7653G>A 1 92581211 CM G A IntronicSNV . c.663-3471G>A 1 92591773 CM G A IntronicSNV . c.663-3498G>A 1 92591746 CM G A IntronicSNV . c.663-3634G>A 1 92591610 CM G A Missense p.E131K c.391G>A 1 92568073 CM G A Missense p.E187K c.559G>A 1 92573455 CM G A Missense p.E241K c.721G>A 1 92595302 BRCA G A Missense p.V75I c.223G>A 1 92554328 ESCA G C IntronicSNV . c.663-4220G>C 1 92591024 HC G C Missense p.A108P c.322G>C 1 92554427 LUAD G C Missense p.E361Q c.1081G>C 1 92613302 HNSC G T Missense p.G5W c.13G>T 1 92546141 UCEC G T Missense p.K136N c.408G>T 1 92568090 OV G T Missense p.W341C c.1023G>T 1 92613244 LUSC T A Missense p.H86Q c.258T>A 1 92554363 UCEC T A Missense p.Y184N c.550T>A 1 92573446 SCLC T A Nonsense p.L196* c.587T>A 1 92573483 CM T A SpliceDonorSNV . c.149+2T>A 1 92546279 LUSC T A Synonymous p.I325I c.975T>A 1 92612781 AML T G Missense p.F56C c.167T>G 1 92554272 RCCC