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 BLCA 15 45028906 45028906 + Missense_Mutation SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr15:45028906G>A c.4G>A c.(4-6)Gag>Aag p.E2K BLCA 15 45047418 45047418 + Silent SNP C C G TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr15:45047418C>G c.327C>G c.(325-327)ctC>ctG p.L109L BLCA 15 45047491 45047491 + Missense_Mutation SNP T T C TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr15:45047491T>C c.400T>C c.(400-402)Tgc>Cgc p.C134R BLCA 15 45047506 45047506 + Missense_Mutation SNP G G C TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr15:45047506G>C c.415G>C c.(415-417)Gat>Cat p.D139H BLCA 15 45050939 45050939 + Missense_Mutation SNP G G C TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr15:45050939G>C c.700G>C c.(700-702)Gag>Cag p.E234Q BLCA 15 45051838 45051838 + Splice_Site SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr15:45051838G>A c.814G>A c.(814-816)Gac>Aac p.D272N BLCA 15 45059619 45059619 + Silent SNP A A G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr15:45059619A>G c.1152A>G c.(1150-1152)gtA>gtG p.V384V BRCA 15 45047165 45047165 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr15:45047165A>C c.74A>C c.(73-75)cAc>cCc p.H25P BRCA 15 45047337 45047337 + Silent SNP G G A TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr15:45047337G>A c.246G>A c.(244-246)aaG>aaA p.K82K BRCA 15 45059866 45059866 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr15:45059866A>C c.1399A>C c.(1399-1401)Acc>Ccc p.T467P BRCA 15 45059889 45059889 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr15:45059889G>A c.1422G>A c.(1420-1422)gaG>gaA p.E474E CESC 15 45047237 45047237 + Missense_Mutation SNP G G A TCGA-EA-A1QT-01A-11D-A14W-08 TCGA-EA-A1QT-10A-01D-A14W-08 g.chr15:45047237G>A c.146G>A c.(145-147)cGa>cAa p.R49Q CESC 15 45051031 45051031 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr15:45051031G>T c.792G>T c.(790-792)caG>caT p.Q264H CHOL 15 45059569 45059569 + Silent SNP C C T TCGA-W5-AA2R-01A-11D-A417-09 TCGA-W5-AA2R-10A-01D-A41A-09 g.chr15:45059569C>T c.1102C>T c.(1102-1104)Ctg>Ttg p.L368L COAD 15 45047132 45047132 + Missense_Mutation SNP G G A TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr15:45047132G>A c.41G>A c.(40-42)gGc>gAc p.G14D COAD 15 45047253 45047253 + Silent SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr15:45047253A>G c.162A>G c.(160-162)ctA>ctG p.L54L COAD 15 45051968 45051968 + Missense_Mutation SNP C C A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr15:45051968C>A c.859C>A c.(859-861)Ctg>Atg p.L287M COAD 15 45059507 45059507 + Missense_Mutation SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr15:45059507A>G c.1040A>G c.(1039-1041)cAt>cGt p.H347R COAD 15 45059514 45059514 + Silent SNP C C T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr15:45059514C>T c.1047C>T c.(1045-1047)gaC>gaT p.D349D COAD 15 45059608 45059608 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr15:45059608G>A c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K COAD 15 45059759 45059759 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:45059759C>T c.1292C>T c.(1291-1293)tCt>tTt p.S431F COADREAD 15 45047124 45047124 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr15:45047124C>T c.33C>T c.(31-33)atC>atT p.I11I COADREAD 15 45047132 45047132 + Missense_Mutation SNP G G A TCGA-AA-3989-01A-01W-0995-10 TCGA-AA-3989-10A-01W-0999-10 g.chr15:45047132G>A c.41G>A c.(40-42)gGc>gAc p.G14D COADREAD 15 45047253 45047253 + Silent SNP A A G TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr15:45047253A>G c.162A>G c.(160-162)ctA>ctG p.L54L COADREAD 15 45047513 45047513 + Missense_Mutation SNP G G A TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr15:45047513G>A c.422G>A c.(421-423)cGg>cAg p.R141Q COADREAD 15 45051968 45051968 + Missense_Mutation SNP C C A TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr15:45051968C>A c.859C>A c.(859-861)Ctg>Atg p.L287M COADREAD 15 45059507 45059507 + Missense_Mutation SNP A A G TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr15:45059507A>G c.1040A>G c.(1039-1041)cAt>cGt p.H347R COADREAD 15 45059514 45059514 + Silent SNP C C T TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr15:45059514C>T c.1047C>T c.(1045-1047)gaC>gaT p.D349D COADREAD 15 45059523 45059523 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr15:45059523G>T c.1056G>T c.(1054-1056)aaG>aaT p.K352N COADREAD 15 45059608 45059608 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr15:45059608G>A c.1141G>A c.(1141-1143)Gaa>Aaa p.E381K COADREAD 15 45059656 45059656 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr15:45059656G>T c.1189G>T c.(1189-1191)Gaa>Taa p.E397* COADREAD 15 45059759 45059759 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:45059759C>T c.1292C>T c.(1291-1293)tCt>tTt p.S431F ESCA 15 45047271 45047271 + Silent SNP C C T TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr15:45047271C>T c.180C>T c.(178-180)ttC>ttT p.F60F GBMLGG 15 45050860 45050860 + Silent SNP T T C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 g.chr15:45050860T>C c.621T>C c.(619-621)ttT>ttC p.F207F GBMLGG 15 45050943 45050943 + Missense_Mutation SNP A A G TCGA-E1-A7YD-01A-11D-A34A-08 TCGA-E1-A7YD-10A-01D-A34A-08 g.chr15:45050943A>G c.704A>G c.(703-705)gAg>gGg p.E235G GBMLGG 15 45059499 45059499 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:45059499C>T c.1032C>T c.(1030-1032)agC>agT p.S344S HNSC 15 45047248 45047248 + Missense_Mutation SNP A A G TCGA-CN-5365-01A-01D-1434-08 TCGA-CN-5365-10A-01D-1434-08 g.chr15:45047248A>G c.157A>G c.(157-159)Atg>Gtg p.M53V HNSC 15 45047302 45047302 + Missense_Mutation SNP C C A TCGA-CV-A45Z-01A-21D-A25D-08 TCGA-CV-A45Z-10A-01D-A25E-08 g.chr15:45047302C>A c.211C>A c.(211-213)Ctg>Atg p.L71M HNSC 15 45047401 45047401 + Nonsense_Mutation SNP A A T TCGA-CV-7104-01A-11D-2012-08 TCGA-CV-7104-10A-01D-2013-08 g.chr15:45047401A>T c.310A>T c.(310-312)Aag>Tag p.K104* HNSC 15 45059955 45059955 + Silent SNP C C T TCGA-CV-A45W-01A-11D-A25D-08 TCGA-CV-A45W-10A-01D-A25E-08 g.chr15:45059955C>T c.1488C>T c.(1486-1488)atC>atT p.I496I KIPAN 15 45048565 45048565 + Splice_Site SNP G G C TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr15:45048565G>C c.e4-1 KIRP 15 45048565 45048565 + Splice_Site SNP G G C TCGA-P4-A5EB-01A-11D-A28G-10 TCGA-P4-A5EB-11A-11D-A28G-10 g.chr15:45048565G>C c.e4-1 LGG 15 45050860 45050860 + Silent SNP T T C TCGA-DU-5854-01A-11D-1705-08 TCGA-DU-5854-10A-01D-1705-08 g.chr15:45050860T>C c.621T>C c.(619-621)ttT>ttC p.F207F LGG 15 45050943 45050943 + Missense_Mutation SNP A A G TCGA-E1-A7YD-01A-11D-A34A-08 TCGA-E1-A7YD-10A-01D-A34A-08 g.chr15:45050943A>G c.704A>G c.(703-705)gAg>gGg p.E235G LGG 15 45059499 45059499 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:45059499C>T c.1032C>T c.(1030-1032)agC>agT p.S344S LIHC 15 45051022 45051022 + Silent SNP G G T TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chr15:45051022G>T c.783G>T c.(781-783)acG>acT p.T261T LUAD 15 45028906 45028906 + Missense_Mutation SNP G G C TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr15:45028906G>C c.4G>C c.(4-6)Gag>Cag p.E2Q LUAD 15 45047475 45047475 + Silent SNP A A G TCGA-55-8299-01A-11D-2284-08 TCGA-55-8299-10B-01D-2323-08 g.chr15:45047475A>G c.384A>G c.(382-384)ccA>ccG p.P128P LUAD 15 45047534 45047534 + Missense_Mutation SNP A A G TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr15:45047534A>G c.443A>G c.(442-444)aAg>aGg p.K148R LUAD 15 45059693 45059693 + Missense_Mutation SNP C C T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr15:45059693C>T c.1226C>T c.(1225-1227)cCt>cTt p.P409L LUAD 15 45059749 45059749 + Missense_Mutation SNP G G A TCGA-MP-A4SY-01A-21D-A24P-08 TCGA-MP-A4SY-10A-01D-A24P-08 g.chr15:45059749G>A c.1282G>A c.(1282-1284)Gat>Aat p.D428N LUSC 15 45047286 45047286 + Missense_Mutation SNP C C G TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr15:45047286C>G c.195C>G c.(193-195)atC>atG p.I65M LUSC 15 45052027 45052027 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr15:45052027C>T c.918C>T c.(916-918)atC>atT p.I306I LUSC 15 45059595 45059595 + Silent SNP A A T TCGA-33-4532-01A-01D-1267-08 TCGA-33-4532-11A-01D-1267-08 g.chr15:45059595A>T c.1128A>T c.(1126-1128)ggA>ggT p.G376G PAAD 15 45050992 45050992 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr15:45050992G>T c.753G>T c.(751-753)aaG>aaT p.K251N PAAD 15 45059546 45059546 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr15:45059546G>A c.1079G>A c.(1078-1080)aGg>aAg p.R360K PRAD 15 45059579 45059579 + Missense_Mutation SNP G G A TCGA-HC-A9TE-01A-11D-A41K-08 TCGA-HC-A9TE-10A-01D-A41N-08 g.chr15:45059579G>A c.1112G>A c.(1111-1113)aGa>aAa p.R371K READ 15 45047124 45047124 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr15:45047124C>T c.33C>T c.(31-33)atC>atT p.I11I READ 15 45047513 45047513 + Missense_Mutation SNP G G A TCGA-F5-6813-01A-11D-1826-10 TCGA-F5-6813-10A-01D-1826-10 g.chr15:45047513G>A c.422G>A c.(421-423)cGg>cAg p.R141Q READ 15 45059523 45059523 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr15:45059523G>T c.1056G>T c.(1054-1056)aaG>aaT p.K352N READ 15 45059656 45059656 + Nonsense_Mutation SNP G G T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr15:45059656G>T c.1189G>T c.(1189-1191)Gaa>Taa p.E397* SARC 15 45047473 45047473 + Missense_Mutation SNP C C A TCGA-DX-AB2W-01A-11D-A38Z-09 TCGA-DX-AB2W-10A-01D-A38Z-09 g.chr15:45047473C>A c.382C>A c.(382-384)Cca>Aca p.P128T SKCM 15 45047124 45047124 + Silent SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr15:45047124C>T c.33C>T c.(31-33)atC>atT p.I11I SKCM 15 45047410 45047410 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr15:45047410C>T c.319C>T c.(319-321)Ccc>Tcc p.P107S SKCM 15 45047536 45047536 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr15:45047536G>A c.445G>A c.(445-447)Gag>Aag p.E149K SKCM 15 45050851 45050851 + Silent SNP C C T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr15:45050851C>T c.612C>T c.(610-612)tcC>tcT p.S204S SKCM 15 45050878 45050878 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr15:45050878C>T c.639C>T c.(637-639)ttC>ttT p.F213F SKCM 15 45050909 45050909 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr15:45050909G>A c.670G>A c.(670-672)Gag>Aag p.E224K SKCM 15 45050916 45050916 + Missense_Mutation SNP G G T TCGA-EE-A184-06A-11D-A196-08 TCGA-EE-A184-10B-01D-A198-08 g.chr15:45050916G>T c.677G>T c.(676-678)cGg>cTg p.R226L SKCM 15 45050926 45050926 + Silent SNP G G A TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr15:45050926G>A c.687G>A c.(685-687)ggG>ggA p.G229G SKCM 15 45050926 45050926 + Silent SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr15:45050926G>A c.687G>A c.(685-687)ggG>ggA p.G229G SKCM 15 45051047 45051047 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr15:45051047C>T c.808C>T c.(808-810)Ctc>Ttc p.L270F SKCM 15 45052046 45052046 + Missense_Mutation SNP G G A TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr15:45052046G>A c.937G>A c.(937-939)Gaa>Aaa p.E313K SKCM 15 45052067 45052067 + Missense_Mutation SNP C C A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr15:45052067C>A c.958C>A c.(958-960)Cca>Aca p.P320T SKCM 15 45059500 45059500 + Missense_Mutation SNP G G A TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr15:45059500G>A c.1033G>A c.(1033-1035)Gtc>Atc p.V345I SKCM 15 45059759 45059759 + Missense_Mutation SNP C C T TCGA-D3-A2J7-06A-11D-A196-08 TCGA-D3-A2J7-10A-01D-A198-08 g.chr15:45059759C>T c.1292C>T c.(1291-1293)tCt>tTt p.S431F SKCM 15 45059798 45059798 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr15:45059798G>A c.1331G>A c.(1330-1332)gGc>gAc p.G444D SKCM 15 45059941 45059941 + Missense_Mutation SNP G G A TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr15:45059941G>A c.1474G>A c.(1474-1476)Gaa>Aaa p.E492K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 15 45047506 45047506 single base substitution G C 5_prime_UTR_variant BLCA-US 15 45047506 45047506 single base substitution G C intron_variant BLCA-US 15 45047506 45047506 single base substitution G C missense_variant D139H 415G>C BLCA-US 15 45047506 45047506 single base substitution G C upstream_gene_variant BOCA-FR 15 45061595 45061595 single base substitution G A downstream_gene_variant BRCA-EU 15 45016749 45016749 single base substitution G A upstream_gene_variant BRCA-EU 15 45016759 45016759 single base substitution G C upstream_gene_variant BRCA-EU 15 45018324 45018324 single base substitution G C upstream_gene_variant BRCA-EU 15 45018389 45018389 deletion of <=200bp T - upstream_gene_variant BRCA-EU 15 45018749 45018749 single base substitution C G upstream_gene_variant BRCA-EU 15 45019230 45019230 single base substitution T C upstream_gene_variant BRCA-EU 15 45019588 45019588 single base substitution C T upstream_gene_variant BRCA-EU 15 45019629 45019629 single base substitution A C upstream_gene_variant BRCA-EU 15 45019735 45019735 single base substitution G A upstream_gene_variant BRCA-EU 15 45020364 45020364 insertion of <=200bp - A upstream_gene_variant BRCA-EU 15 45021126 45021126 single base substitution G C upstream_gene_variant BRCA-EU 15 45022240 45022240 single base substitution T C intron_variant BRCA-EU 15 45022781 45022781 single base substitution C T intron_variant BRCA-EU 15 45023550 45023550 deletion of <=200bp T - intron_variant BRCA-EU 15 45024765 45024765 single base substitution T G downstream_gene_variant BRCA-EU 15 45024765 45024765 single base substitution T G exon_variant BRCA-EU 15 45024765 45024765 single base substitution T G intron_variant BRCA-EU 15 45024765 45024765 single base substitution T G upstream_gene_variant BRCA-EU 15 45028791 45028791 single base substitution G C 5_prime_UTR_variant BRCA-EU 15 45028791 45028791 single base substitution G C downstream_gene_variant BRCA-EU 15 45028791 45028791 single base substitution G C exon_variant BRCA-EU 15 45029926 45029926 single base substitution G C downstream_gene_variant BRCA-EU 15 45029926 45029926 single base substitution G C intron_variant BRCA-EU 15 45031235 45031235 single base substitution C T downstream_gene_variant BRCA-EU 15 45031235 45031235 single base substitution C T intron_variant BRCA-EU 15 45035565 45035565 single base substitution G A intron_variant BRCA-EU 15 45038060 45038060 deletion of <=200bp A - intron_variant BRCA-EU 15 45040633 45040633 single base substitution C T intron_variant BRCA-EU 15 45040633 45040633 single base substitution C T upstream_gene_variant BRCA-EU 15 45040719 45040719 single base substitution C T intron_variant BRCA-EU 15 45040719 45040719 single base substitution C T upstream_gene_variant BRCA-EU 15 45040820 45040820 single base substitution C T intron_variant BRCA-EU 15 45040820 45040820 single base substitution C T upstream_gene_variant BRCA-EU 15 45041260 45041260 insertion of <=200bp - T intron_variant BRCA-EU 15 45041260 45041260 insertion of <=200bp - T upstream_gene_variant BRCA-EU 15 45042964 45042964 single base substitution C G intron_variant BRCA-EU 15 45042964 45042964 single base substitution C G upstream_gene_variant BRCA-EU 15 45043270 45043270 single base substitution C G intron_variant BRCA-EU 15 45043270 45043270 single base substitution C G upstream_gene_variant BRCA-EU 15 45043313 45043313 single base substitution T A intron_variant BRCA-EU 15 45043313 45043313 single base substitution T A upstream_gene_variant BRCA-EU 15 45043555 45043555 single base substitution C G intron_variant BRCA-EU 15 45043555 45043555 single base substitution C G upstream_gene_variant BRCA-EU 15 45044119 45044119 single base substitution C G intron_variant BRCA-EU 15 45044119 45044119 single base substitution C G upstream_gene_variant BRCA-EU 15 45045111 45045111 single base substitution C G intron_variant BRCA-EU 15 45045111 45045111 single base substitution C G upstream_gene_variant BRCA-EU 15 45045491 45045491 single base substitution T A 5_prime_UTR_variant BRCA-EU 15 45045491 45045491 single base substitution T A intron_variant BRCA-EU 15 45047578 45047578 single base substitution G T intron_variant BRCA-EU 15 45047578 45047578 single base substitution G T splice_region_variant BRCA-EU 15 45047578 45047578 single base substitution G T upstream_gene_variant BRCA-EU 15 45048309 45048309 single base substitution C G intron_variant BRCA-EU 15 45048309 45048309 single base substitution C G upstream_gene_variant BRCA-EU 15 45051329 45051329 single base substitution G T intron_variant BRCA-EU 15 45051724 45051724 single base substitution G C intron_variant BRCA-EU 15 45051737 45051737 single base substitution C T intron_variant BRCA-EU 15 45052743 45052743 single base substitution G A intron_variant BRCA-EU 15 45055206 45055206 single base substitution C G intron_variant BRCA-EU 15 45055331 45055331 single base substitution T C intron_variant BRCA-EU 15 45056747 45056747 single base substitution G A intron_variant BRCA-EU 15 45059120 45059120 single base substitution G A intron_variant BRCA-EU 15 45059306 45059307 deletion of <=200bp TC - intron_variant BRCA-EU 15 45060782 45060782 single base substitution G A downstream_gene_variant BRCA-EU 15 45061096 45061096 single base substitution C T downstream_gene_variant BRCA-EU 15 45061269 45061269 deletion of <=200bp T - downstream_gene_variant BRCA-EU 15 45061938 45061938 single base substitution C G downstream_gene_variant BRCA-EU 15 45061942 45061942 single base substitution C G downstream_gene_variant BRCA-EU 15 45063730 45063730 deletion of <=200bp T - downstream_gene_variant BRCA-EU 15 45064258 45064258 single base substitution G A downstream_gene_variant BRCA-EU 15 45064328 45064328 single base substitution C A downstream_gene_variant BRCA-EU 15 45064806 45064806 single base substitution C T downstream_gene_variant BRCA-EU 15 45064850 45064850 single base substitution G T downstream_gene_variant BRCA-FR 15 45035057 45035057 single base substitution G A intron_variant BRCA-FR 15 45035565 45035565 single base substitution G A intron_variant BRCA-FR 15 45040820 45040820 single base substitution C T intron_variant BRCA-FR 15 45040820 45040820 single base substitution C T upstream_gene_variant BRCA-FR 15 45043270 45043270 single base substitution C G intron_variant BRCA-FR 15 45043270 45043270 single base substitution C G upstream_gene_variant BRCA-FR 15 45044119 45044119 single base substitution C G intron_variant BRCA-FR 15 45044119 45044119 single base substitution C G upstream_gene_variant BRCA-FR 15 45048309 45048309 single base substitution C G intron_variant BRCA-FR 15 45048309 45048309 single base substitution C G upstream_gene_variant BRCA-FR 15 45055206 45055206 single base substitution C G intron_variant BRCA-FR 15 45061277 45061277 single base substitution T G downstream_gene_variant BRCA-FR 15 45061938 45061938 single base substitution C G downstream_gene_variant BRCA-FR 15 45061942 45061942 single base substitution C G downstream_gene_variant BRCA-FR 15 45064258 45064258 single base substitution G A downstream_gene_variant BRCA-KR 15 45051950 45051950 single base substitution G C missense_variant E122Q 364G>C BRCA-KR 15 45051950 45051950 single base substitution G C missense_variant E20Q 58G>C BRCA-KR 15 45051950 45051950 single base substitution G C missense_variant E281Q 841G>C BRCA-KR 15 45051950 45051950 single base substitution G C missense_variant E44Q 130G>C BRCA-KR 15 45051950 45051950 single base substitution G C missense_variant E60Q 178G>C BRCA-KR 15 45051950 45051950 single base substitution G C missense_variant E77Q 229G>C BRCA-US 15 45047165 45047165 single base substitution A C 5_prime_UTR_variant BRCA-US 15 45047165 45047165 single base substitution A C intron_variant BRCA-US 15 45047165 45047165 single base substitution A C missense_variant H25P 74A>C BRCA-US 15 45047165 45047165 single base substitution A C upstream_gene_variant BRCA-US 15 45047337 45047337 single base substitution G A 5_prime_UTR_variant BRCA-US 15 45047337 45047337 single base substitution G A intron_variant BRCA-US 15 45047337 45047337 single base substitution G A synonymous_variant K82K 246G>A BRCA-US 15 45047337 45047337 single base substitution G A upstream_gene_variant BRCA-US 15 45059866 45059866 single base substitution A C downstream_gene_variant BRCA-US 15 45059866 45059866 single base substitution A C missense_variant T230P 688A>C BRCA-US 15 45059866 45059866 single base substitution A C missense_variant T246P 736A>C BRCA-US 15 45059866 45059866 single base substitution A C missense_variant T263P 787A>C BRCA-US 15 45059866 45059866 single base substitution A C missense_variant T308P 922A>C BRCA-US 15 45059866 45059866 single base substitution A C missense_variant T467P 1399A>C BRCA-US 15 45059889 45059889 single base substitution G A downstream_gene_variant BRCA-US 15 45059889 45059889 single base substitution G A synonymous_variant E237E 711G>A BRCA-US 15 45059889 45059889 single base substitution G A synonymous_variant E253E 759G>A BRCA-US 15 45059889 45059889 single base substitution G A synonymous_variant E270E 810G>A BRCA-US 15 45059889 45059889 single base substitution G A synonymous_variant E315E 945G>A BRCA-US 15 45059889 45059889 single base substitution G A synonymous_variant E474E 1422G>A BTCA-JP 15 45028933 45028933 single base substitution C A downstream_gene_variant BTCA-JP 15 45028933 45028933 single base substitution C A intron_variant BTCA-JP 15 45050915 45050915 single base substitution C T intron_variant BTCA-JP 15 45050915 45050915 single base substitution C T missense_variant R226W 676C>T BTCA-JP 15 45050915 45050915 single base substitution C T missense_variant R22W 64C>T BTCA-JP 15 45050915 45050915 single base substitution C T missense_variant R67W 199C>T BTCA-JP 15 45050915 45050915 single base substitution C T upstream_gene_variant CESC-US 15 45047237 45047237 single base substitution G A 5_prime_UTR_variant CESC-US 15 45047237 45047237 single base substitution G A intron_variant CESC-US 15 45047237 45047237 single base substitution G A missense_variant R49Q 146G>A CESC-US 15 45047237 45047237 single base substitution G A upstream_gene_variant CESC-US 15 45051031 45051031 single base substitution G T intron_variant CESC-US 15 45051031 45051031 single base substitution G T missense_variant Q105H 315G>T CESC-US 15 45051031 45051031 single base substitution G T missense_variant Q264H 792G>T CESC-US 15 45051031 45051031 single base substitution G T missense_variant Q60H 180G>T CLLE-ES 15 45051271 45051271 single base substitution A G intron_variant COAD-US 15 45059514 45059514 single base substitution C T synonymous_variant D112D 336C>T COAD-US 15 45059514 45059514 single base substitution C T synonymous_variant D128D 384C>T COAD-US 15 45059514 45059514 single base substitution C T synonymous_variant D145D 435C>T COAD-US 15 45059514 45059514 single base substitution C T synonymous_variant D190D 570C>T COAD-US 15 45059514 45059514 single base substitution C T synonymous_variant D349D 1047C>T COAD-US 15 45059514 45059514 single base substitution C T synonymous_variant D88D 264C>T COCA-CN 15 45027572 45027572 single base substitution G A downstream_gene_variant COCA-CN 15 45027572 45027572 single base substitution G A intron_variant COCA-CN 15 45027572 45027572 single base substitution G A upstream_gene_variant COCA-CN 15 45033939 45033939 single base substitution C T intron_variant COCA-CN 15 45033950 45033950 single base substitution C T intron_variant COCA-CN 15 45047034 45047034 single base substitution C A 5_prime_UTR_variant COCA-CN 15 45047034 45047034 single base substitution C A intron_variant COCA-CN 15 45047034 45047034 single base substitution C A upstream_gene_variant COCA-CN 15 45047133 45047133 single base substitution C T 5_prime_UTR_variant COCA-CN 15 45047133 45047133 single base substitution C T intron_variant COCA-CN 15 45047133 45047133 single base substitution C T synonymous_variant G14G 42C>T COCA-CN 15 45047133 45047133 single base substitution C T upstream_gene_variant COCA-CN 15 45060014 45060014 single base substitution A T 3_prime_UTR_variant COCA-CN 15 45060014 45060014 single base substitution A T downstream_gene_variant COCA-CN 15 45063867 45063867 single base substitution G A downstream_gene_variant ESAD-UK 15 45016225 45016225 deletion of <=200bp A - upstream_gene_variant ESAD-UK 15 45018389 45018389 deletion of <=200bp T - upstream_gene_variant ESAD-UK 15 45020551 45020551 deletion of <=200bp T - upstream_gene_variant ESAD-UK 15 45024712 45024712 single base substitution C A downstream_gene_variant ESAD-UK 15 45024712 45024712 single base substitution C A exon_variant ESAD-UK 15 45024712 45024712 single base substitution C A intron_variant ESAD-UK 15 45024712 45024712 single base substitution C A upstream_gene_variant ESAD-UK 15 45024795 45024795 single base substitution C T downstream_gene_variant ESAD-UK 15 45024795 45024795 single base substitution C T exon_variant ESAD-UK 15 45024795 45024795 single base substitution C T intron_variant ESAD-UK 15 45024795 45024795 single base substitution C T upstream_gene_variant ESAD-UK 15 45026976 45026976 single base substitution A C downstream_gene_variant ESAD-UK 15 45026976 45026976 single base substitution A C intron_variant ESAD-UK 15 45026976 45026976 single base substitution A C upstream_gene_variant ESAD-UK 15 45027413 45027424 deletion of <=200bp AAAGAAAAGAAA - downstream_gene_variant ESAD-UK 15 45027413 45027424 deletion of <=200bp AAAGAAAAGAAA - intron_variant ESAD-UK 15 45027413 45027424 deletion of <=200bp AAAGAAAAGAAA - upstream_gene_variant ESAD-UK 15 45027540 45027543 deletion of <=200bp AGAA - downstream_gene_variant ESAD-UK 15 45027540 45027543 deletion of <=200bp AGAA - intron_variant ESAD-UK 15 45027540 45027543 deletion of <=200bp AGAA - upstream_gene_variant ESAD-UK 15 45027876 45027876 single base substitution G A downstream_gene_variant ESAD-UK 15 45027876 45027876 single base substitution G A intron_variant ESAD-UK 15 45027876 45027876 single base substitution G A upstream_gene_variant ESAD-UK 15 45028596 45028596 single base substitution G A 5_prime_UTR_variant ESAD-UK 15 45028596 45028596 single base substitution G A downstream_gene_variant ESAD-UK 15 45028596 45028596 single base substitution G A exon_variant ESAD-UK 15 45028596 45028596 single base substitution G A intron_variant ESAD-UK 15 45028596 45028596 single base substitution G A upstream_gene_variant ESAD-UK 15 45029357 45029357 single base substitution T C downstream_gene_variant ESAD-UK 15 45029357 45029357 single base substitution T C intron_variant ESAD-UK 15 45030788 45030788 single base substitution T G downstream_gene_variant ESAD-UK 15 45030788 45030788 single base substitution T G intron_variant ESAD-UK 15 45030850 45030850 single base substitution A G downstream_gene_variant ESAD-UK 15 45030850 45030850 single base substitution A G intron_variant ESAD-UK 15 45033371 45033371 single base substitution C T downstream_gene_variant ESAD-UK 15 45033371 45033371 single base substitution C T intron_variant ESAD-UK 15 45036661 45036661 deletion of <=200bp A - intron_variant ESAD-UK 15 45039722 45039722 single base substitution G C intron_variant ESAD-UK 15 45040294 45040294 single base substitution C T intron_variant ESAD-UK 15 45040294 45040294 single base substitution C T upstream_gene_variant ESAD-UK 15 45040322 45040322 single base substitution G T intron_variant ESAD-UK 15 45040322 45040322 single base substitution G T upstream_gene_variant ESAD-UK 15 45040652 45040652 single base substitution G C intron_variant ESAD-UK 15 45040652 45040652 single base substitution G C upstream_gene_variant ESAD-UK 15 45041203 45041203 single base substitution C T intron_variant ESAD-UK 15 45041203 45041203 single base substitution C T upstream_gene_variant ESAD-UK 15 45042104 45042104 single base substitution A T intron_variant ESAD-UK 15 45042104 45042104 single base substitution A T upstream_gene_variant ESAD-UK 15 45042686 45042686 single base substitution G A intron_variant ESAD-UK 15 45042686 45042686 single base substitution G A upstream_gene_variant ESAD-UK 15 45044314 45044314 single base substitution A G intron_variant ESAD-UK 15 45044314 45044314 single base substitution A G upstream_gene_variant ESAD-UK 15 45045282 45045282 single base substitution C G 5_prime_UTR_variant ESAD-UK 15 45045282 45045282 single base substitution C G intron_variant ESAD-UK 15 45046574 45046574 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 15 45046574 45046574 single base substitution G A intron_variant ESAD-UK 15 45046574 45046574 single base substitution G A upstream_gene_variant ESAD-UK 15 45050185 45050185 single base substitution T C 5_prime_UTR_variant ESAD-UK 15 45050185 45050185 single base substitution T C intron_variant ESAD-UK 15 45050185 45050185 single base substitution T C upstream_gene_variant ESAD-UK 15 45051947 45051947 single base substitution T G missense_variant L121V 361T>G ESAD-UK 15 45051947 45051947 single base substitution T G missense_variant L19V 55T>G ESAD-UK 15 45051947 45051947 single base substitution T G missense_variant L280V 838T>G ESAD-UK 15 45051947 45051947 single base substitution T G missense_variant L43V 127T>G ESAD-UK 15 45051947 45051947 single base substitution T G missense_variant L59V 175T>G ESAD-UK 15 45051947 45051947 single base substitution T G missense_variant L76V 226T>G ESAD-UK 15 45053774 45053774 single base substitution C T intron_variant ESAD-UK 15 45054178 45054178 deletion of <=200bp T - intron_variant ESAD-UK 15 45054411 45054411 single base substitution G A intron_variant ESAD-UK 15 45054951 45054951 single base substitution C T intron_variant ESAD-UK 15 45056219 45056219 single base substitution G C intron_variant ESAD-UK 15 45057952 45057952 insertion of <=200bp - A intron_variant ESAD-UK 15 45057976 45057976 single base substitution A C intron_variant ESAD-UK 15 45058839 45058839 single base substitution A G intron_variant ESAD-UK 15 45059412 45059412 single base substitution T C intron_variant ESAD-UK 15 45059710 45059710 single base substitution C A downstream_gene_variant ESAD-UK 15 45059710 45059710 single base substitution C A missense_variant L178I 532C>A ESAD-UK 15 45059710 45059710 single base substitution C A missense_variant L194I 580C>A ESAD-UK 15 45059710 45059710 single base substitution C A missense_variant L211I 631C>A ESAD-UK 15 45059710 45059710 single base substitution C A missense_variant L256I 766C>A ESAD-UK 15 45059710 45059710 single base substitution C A missense_variant L415I 1243C>A ESAD-UK 15 45060079 45060079 single base substitution A G downstream_gene_variant ESAD-UK 15 45060304 45060304 single base substitution G T downstream_gene_variant ESAD-UK 15 45061277 45061277 single base substitution T G downstream_gene_variant ESAD-UK 15 45061894 45061894 single base substitution T A downstream_gene_variant ESAD-UK 15 45063013 45063013 single base substitution A G downstream_gene_variant ESAD-UK 15 45064119 45064119 single base substitution G A downstream_gene_variant ESCA-CN 15 45047435 45047435 single base substitution G T 5_prime_UTR_variant ESCA-CN 15 45047435 45047435 single base substitution G T intron_variant ESCA-CN 15 45047435 45047435 single base substitution G T missense_variant C115F 344G>T ESCA-CN 15 45047435 45047435 single base substitution G T upstream_gene_variant KIRP-US 15 45048565 45048565 single base substitution G C splice_acceptor_variant KIRP-US 15 45048565 45048565 single base substitution G C upstream_gene_variant LAML-KR 15 45017429 45017429 single base substitution G C upstream_gene_variant LGG-US 15 45050860 45050860 single base substitution T C intron_variant LGG-US 15 45050860 45050860 single base substitution T C synonymous_variant F207F 621T>C LGG-US 15 45050860 45050860 single base substitution T C synonymous_variant F3F 9T>C LGG-US 15 45050860 45050860 single base substitution T C synonymous_variant F48F 144T>C LGG-US 15 45050860 45050860 single base substitution T C upstream_gene_variant LICA-FR 15 45033284 45033284 single base substitution T G downstream_gene_variant LICA-FR 15 45033284 45033284 single base substitution T G intron_variant LICA-FR 15 45034278 45034278 single base substitution C G intron_variant LICA-FR 15 45035017 45035017 single base substitution A G intron_variant LICA-FR 15 45035111 45035111 single base substitution C T intron_variant LICA-FR 15 45046782 45046782 single base substitution G A 5_prime_UTR_variant LICA-FR 15 45046782 45046782 single base substitution G A intron_variant LICA-FR 15 45046782 45046782 single base substitution G A upstream_gene_variant LICA-FR 15 45050909 45050909 single base substitution G A intron_variant LICA-FR 15 45050909 45050909 single base substitution G A missense_variant E20K 58G>A LICA-FR 15 45050909 45050909 single base substitution G A missense_variant E224K 670G>A LICA-FR 15 45050909 45050909 single base substitution G A missense_variant E65K 193G>A LICA-FR 15 45050909 45050909 single base substitution G A upstream_gene_variant LINC-JP 15 45018595 45018595 single base substitution C T upstream_gene_variant LINC-JP 15 45025008 45025008 single base substitution A G downstream_gene_variant LINC-JP 15 45025008 45025008 single base substitution A G exon_variant LINC-JP 15 45025008 45025008 single base substitution A G intron_variant LINC-JP 15 45025008 45025008 single base substitution A G upstream_gene_variant LINC-JP 15 45037459 45037459 single base substitution T C intron_variant LINC-JP 15 45042257 45042257 single base substitution A G intron_variant LINC-JP 15 45042257 45042257 single base substitution A G upstream_gene_variant LINC-JP 15 45060851 45060851 single base substitution G A downstream_gene_variant LINC-JP 15 45060852 45060852 single base substitution C T downstream_gene_variant LIRI-JP 15 45019829 45019829 deletion of <=200bp T - upstream_gene_variant LIRI-JP 15 45021048 45021048 single base substitution G C upstream_gene_variant LIRI-JP 15 45021127 45021127 single base substitution C T upstream_gene_variant LIRI-JP 15 45021575 45021575 single base substitution A C 5_prime_UTR_variant LIRI-JP 15 45021575 45021575 single base substitution A C exon_variant LIRI-JP 15 45021575 45021575 single base substitution A C intron_variant LIRI-JP 15 45022737 45022737 single base substitution T C intron_variant LIRI-JP 15 45024980 45024980 single base substitution G T downstream_gene_variant LIRI-JP 15 45024980 45024980 single base substitution G T exon_variant LIRI-JP 15 45024980 45024980 single base substitution G T intron_variant LIRI-JP 15 45024980 45024980 single base substitution G T upstream_gene_variant LIRI-JP 15 45028982 45028983 deletion of <=200bp AT - downstream_gene_variant LIRI-JP 15 45028982 45028983 deletion of <=200bp AT - intron_variant LIRI-JP 15 45031837 45031837 single base substitution T C downstream_gene_variant LIRI-JP 15 45031837 45031837 single base substitution T C intron_variant LIRI-JP 15 45035331 45035331 single base substitution C T intron_variant LIRI-JP 15 45035827 45035827 single base substitution C T intron_variant LIRI-JP 15 45036020 45036020 single base substitution A G intron_variant LIRI-JP 15 45038212 45038212 single base substitution A G intron_variant LIRI-JP 15 45039663 45039663 single base substitution A G intron_variant LIRI-JP 15 45044818 45044818 single base substitution A G intron_variant LIRI-JP 15 45044818 45044818 single base substitution A G upstream_gene_variant LIRI-JP 15 45045367 45045367 single base substitution A G 5_prime_UTR_variant LIRI-JP 15 45045367 45045367 single base substitution A G intron_variant LIRI-JP 15 45048464 45048464 single base substitution A G intron_variant LIRI-JP 15 45048464 45048464 single base substitution A G upstream_gene_variant LIRI-JP 15 45051040 45051040 single base substitution C A intron_variant LIRI-JP 15 45051040 45051040 single base substitution C A missense_variant F108L 324C>A LIRI-JP 15 45051040 45051040 single base substitution C A missense_variant F267L 801C>A LIRI-JP 15 45051040 45051040 single base substitution C A missense_variant F63L 189C>A LIRI-JP 15 45064198 45064198 single base substitution T C downstream_gene_variant LUSC-KR 15 45016212 45016212 single base substitution C A upstream_gene_variant LUSC-KR 15 45016963 45016963 single base substitution G A upstream_gene_variant LUSC-KR 15 45017429 45017429 single base substitution G C upstream_gene_variant LUSC-KR 15 45033175 45033175 single base substitution C G downstream_gene_variant LUSC-KR 15 45033175 45033175 single base substitution C G intron_variant LUSC-KR 15 45033371 45033371 single base substitution C T downstream_gene_variant LUSC-KR 15 45033371 45033371 single base substitution C T intron_variant LUSC-KR 15 45033438 45033438 single base substitution C T downstream_gene_variant LUSC-KR 15 45033438 45033438 single base substitution C T intron_variant LUSC-KR 15 45034229 45034229 single base substitution C T intron_variant LUSC-KR 15 45034329 45034329 single base substitution G T intron_variant LUSC-KR 15 45034514 45034514 single base substitution C T intron_variant LUSC-KR 15 45036778 45036778 single base substitution G T intron_variant LUSC-KR 15 45045069 45045069 single base substitution G T intron_variant LUSC-KR 15 45045069 45045069 single base substitution G T upstream_gene_variant LUSC-KR 15 45046970 45046970 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 15 45046970 45046970 single base substitution A T intron_variant LUSC-KR 15 45046970 45046970 single base substitution A T upstream_gene_variant LUSC-KR 15 45047134 45047134 single base substitution G A 5_prime_UTR_variant LUSC-KR 15 45047134 45047134 single base substitution G A intron_variant LUSC-KR 15 45047134 45047134 single base substitution G A missense_variant D15N 43G>A LUSC-KR 15 45047134 45047134 single base substitution G A upstream_gene_variant LUSC-KR 15 45053029 45053029 single base substitution A G intron_variant LUSC-KR 15 45054792 45054792 single base substitution A G intron_variant LUSC-KR 15 45060964 45060964 single base substitution G T downstream_gene_variant LUSC-KR 15 45061228 45061228 single base substitution G A downstream_gene_variant LUSC-KR 15 45063311 45063311 single base substitution G A downstream_gene_variant LUSC-KR 15 45063645 45063645 single base substitution T G downstream_gene_variant LUSC-KR 15 45064929 45064929 single base substitution G T downstream_gene_variant LUSC-US 15 45047286 45047286 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 15 45047286 45047286 single base substitution C G intron_variant LUSC-US 15 45047286 45047286 single base substitution C G missense_variant I65M 195C>G LUSC-US 15 45047286 45047286 single base substitution C G upstream_gene_variant LUSC-US 15 45052027 45052027 single base substitution C T synonymous_variant I102I 306C>T LUSC-US 15 45052027 45052027 single base substitution C T synonymous_variant I147I 441C>T LUSC-US 15 45052027 45052027 single base substitution C T synonymous_variant I306I 918C>T LUSC-US 15 45052027 45052027 single base substitution C T synonymous_variant I45I 135C>T LUSC-US 15 45052027 45052027 single base substitution C T synonymous_variant I69I 207C>T LUSC-US 15 45052027 45052027 single base substitution C T synonymous_variant I85I 255C>T LUSC-US 15 45059595 45059595 single base substitution A T synonymous_variant G115G 345A>T LUSC-US 15 45059595 45059595 single base substitution A T synonymous_variant G139G 417A>T LUSC-US 15 45059595 45059595 single base substitution A T synonymous_variant G155G 465A>T LUSC-US 15 45059595 45059595 single base substitution A T synonymous_variant G172G 516A>T LUSC-US 15 45059595 45059595 single base substitution A T synonymous_variant G217G 651A>T LUSC-US 15 45059595 45059595 single base substitution A T synonymous_variant G376G 1128A>T MALY-DE 15 45021417 45021417 single base substitution C T 5_prime_UTR_variant MALY-DE 15 45021417 45021417 single base substitution C T exon_variant MALY-DE 15 45021880 45021880 single base substitution C G intron_variant MALY-DE 15 45027658 45027658 single base substitution G A downstream_gene_variant MALY-DE 15 45027658 45027658 single base substitution G A intron_variant MALY-DE 15 45027658 45027658 single base substitution G A upstream_gene_variant MALY-DE 15 45038060 45038060 insertion of <=200bp - A intron_variant MALY-DE 15 45039325 45039325 single base substitution A G intron_variant MALY-DE 15 45043206 45043206 single base substitution T A intron_variant MALY-DE 15 45043206 45043206 single base substitution T A upstream_gene_variant MALY-DE 15 45048080 45048080 single base substitution G A intron_variant MALY-DE 15 45048080 45048080 single base substitution G A upstream_gene_variant MALY-DE 15 45062079 45062079 insertion of <=200bp - A downstream_gene_variant MELA-AU 15 45016310 45016310 single base substitution G A upstream_gene_variant MELA-AU 15 45016477 45016477 single base substitution C T upstream_gene_variant MELA-AU 15 45017172 45017172 single base substitution C T upstream_gene_variant MELA-AU 15 45017329 45017329 single base substitution C T upstream_gene_variant MELA-AU 15 45017783 45017783 single base substitution C T upstream_gene_variant MELA-AU 15 45018338 45018338 single base substitution C T upstream_gene_variant MELA-AU 15 45018355 45018355 single base substitution G A upstream_gene_variant MELA-AU 15 45018589 45018589 single base substitution A G upstream_gene_variant MELA-AU 15 45018968 45018968 single base substitution A G upstream_gene_variant MELA-AU 15 45019777 45019777 single base substitution C T upstream_gene_variant MELA-AU 15 45019893 45019893 single base substitution G A upstream_gene_variant MELA-AU 15 45020125 45020125 single base substitution G A upstream_gene_variant MELA-AU 15 45021149 45021149 single base substitution C T upstream_gene_variant MELA-AU 15 45022492 45022492 single base substitution A T intron_variant MELA-AU 15 45023175 45023175 single base substitution C T intron_variant MELA-AU 15 45023546 45023546 single base substitution C T intron_variant MELA-AU 15 45024193 45024193 single base substitution C T downstream_gene_variant MELA-AU 15 45024193 45024193 single base substitution C T exon_variant MELA-AU 15 45024193 45024193 single base substitution C T intron_variant MELA-AU 15 45024193 45024193 single base substitution C T upstream_gene_variant MELA-AU 15 45024318 45024318 single base substitution A G downstream_gene_variant MELA-AU 15 45024318 45024318 single base substitution A G exon_variant MELA-AU 15 45024318 45024318 single base substitution A G intron_variant MELA-AU 15 45024318 45024318 single base substitution A G upstream_gene_variant MELA-AU 15 45025493 45025493 single base substitution C T downstream_gene_variant MELA-AU 15 45025493 45025493 single base substitution C T exon_variant MELA-AU 15 45025493 45025493 single base substitution C T intron_variant MELA-AU 15 45025493 45025493 single base substitution C T upstream_gene_variant MELA-AU 15 45026265 45026265 single base substitution T C downstream_gene_variant MELA-AU 15 45026265 45026265 single base substitution T C intron_variant MELA-AU 15 45026265 45026265 single base substitution T C upstream_gene_variant MELA-AU 15 45026529 45026529 single base substitution A G downstream_gene_variant MELA-AU 15 45026529 45026529 single base substitution A G intron_variant MELA-AU 15 45026529 45026529 single base substitution A G upstream_gene_variant MELA-AU 15 45026539 45026539 single base substitution C T downstream_gene_variant MELA-AU 15 45026539 45026539 single base substitution C T intron_variant MELA-AU 15 45026539 45026539 single base substitution C T upstream_gene_variant MELA-AU 15 45027781 45027781 single base substitution G C downstream_gene_variant MELA-AU 15 45027781 45027781 single base substitution G C intron_variant MELA-AU 15 45027781 45027781 single base substitution G C upstream_gene_variant MELA-AU 15 45028099 45028099 single base substitution G A downstream_gene_variant MELA-AU 15 45028099 45028099 single base substitution G A intron_variant MELA-AU 15 45028099 45028099 single base substitution G A upstream_gene_variant MELA-AU 15 45028746 45028746 single base substitution T G 5_prime_UTR_variant MELA-AU 15 45028746 45028746 single base substitution T G downstream_gene_variant MELA-AU 15 45028746 45028746 single base substitution T G exon_variant MELA-AU 15 45028746 45028746 single base substitution T G intron_variant MELA-AU 15 45028746 45028746 single base substitution T G upstream_gene_variant MELA-AU 15 45028800 45028800 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45028800 45028800 single base substitution C T downstream_gene_variant MELA-AU 15 45028800 45028800 single base substitution C T exon_variant MELA-AU 15 45029070 45029070 single base substitution G T downstream_gene_variant MELA-AU 15 45029070 45029070 single base substitution G T intron_variant MELA-AU 15 45030768 45030768 single base substitution C A downstream_gene_variant MELA-AU 15 45030768 45030768 single base substitution C A intron_variant MELA-AU 15 45030768 45030768 single base substitution C T downstream_gene_variant MELA-AU 15 45030768 45030768 single base substitution C T intron_variant MELA-AU 15 45030769 45030769 single base substitution C T downstream_gene_variant MELA-AU 15 45030769 45030769 single base substitution C T intron_variant MELA-AU 15 45030974 45030974 single base substitution G C downstream_gene_variant MELA-AU 15 45030974 45030974 single base substitution G C intron_variant MELA-AU 15 45030978 45030978 single base substitution C T downstream_gene_variant MELA-AU 15 45030978 45030978 single base substitution C T intron_variant MELA-AU 15 45031050 45031050 single base substitution C T downstream_gene_variant MELA-AU 15 45031050 45031050 single base substitution C T intron_variant MELA-AU 15 45031066 45031066 single base substitution T G downstream_gene_variant MELA-AU 15 45031066 45031066 single base substitution T G intron_variant MELA-AU 15 45031138 45031138 single base substitution G A downstream_gene_variant MELA-AU 15 45031138 45031138 single base substitution G A intron_variant MELA-AU 15 45031174 45031174 single base substitution C T downstream_gene_variant MELA-AU 15 45031174 45031174 single base substitution C T intron_variant MELA-AU 15 45031583 45031583 single base substitution G A downstream_gene_variant MELA-AU 15 45031583 45031583 single base substitution G A intron_variant MELA-AU 15 45031662 45031662 single base substitution C T downstream_gene_variant MELA-AU 15 45031662 45031662 single base substitution C T intron_variant MELA-AU 15 45032271 45032271 single base substitution G A downstream_gene_variant MELA-AU 15 45032271 45032271 single base substitution G A intron_variant MELA-AU 15 45032435 45032435 single base substitution C T downstream_gene_variant MELA-AU 15 45032435 45032435 single base substitution C T intron_variant MELA-AU 15 45032721 45032721 single base substitution G A downstream_gene_variant MELA-AU 15 45032721 45032721 single base substitution G A intron_variant MELA-AU 15 45033719 45033719 single base substitution T G downstream_gene_variant MELA-AU 15 45033719 45033719 single base substitution T G intron_variant MELA-AU 15 45034004 45034004 single base substitution G A intron_variant MELA-AU 15 45034944 45034944 single base substitution C T intron_variant MELA-AU 15 45035685 45035685 single base substitution T C intron_variant MELA-AU 15 45036101 45036101 single base substitution C T intron_variant MELA-AU 15 45036107 45036107 single base substitution G A intron_variant MELA-AU 15 45036144 45036144 single base substitution C T intron_variant MELA-AU 15 45036167 45036167 single base substitution G A intron_variant MELA-AU 15 45037322 45037322 single base substitution T A intron_variant MELA-AU 15 45037538 45037538 single base substitution G A intron_variant MELA-AU 15 45037571 45037571 single base substitution A T intron_variant MELA-AU 15 45037726 45037726 single base substitution G A intron_variant MELA-AU 15 45037915 45037915 single base substitution G A intron_variant MELA-AU 15 45037918 45037918 single base substitution C T intron_variant MELA-AU 15 45037939 45037939 single base substitution G A intron_variant MELA-AU 15 45037986 45037986 single base substitution C T intron_variant MELA-AU 15 45038058 45038058 single base substitution G A intron_variant MELA-AU 15 45038725 45038725 single base substitution C T intron_variant MELA-AU 15 45039023 45039023 single base substitution A G intron_variant MELA-AU 15 45039063 45039063 single base substitution C T intron_variant MELA-AU 15 45039115 45039115 single base substitution A G intron_variant MELA-AU 15 45039271 45039271 single base substitution C T intron_variant MELA-AU 15 45039832 45039832 single base substitution C T intron_variant MELA-AU 15 45040028 45040028 single base substitution G A intron_variant MELA-AU 15 45040290 45040290 single base substitution C T intron_variant MELA-AU 15 45040290 45040290 single base substitution C T upstream_gene_variant MELA-AU 15 45040402 45040402 single base substitution C T intron_variant MELA-AU 15 45040402 45040402 single base substitution C T upstream_gene_variant MELA-AU 15 45040467 45040467 single base substitution C T intron_variant MELA-AU 15 45040467 45040467 single base substitution C T upstream_gene_variant MELA-AU 15 45040919 45040919 single base substitution G A intron_variant MELA-AU 15 45040919 45040919 single base substitution G A upstream_gene_variant MELA-AU 15 45041011 45041011 single base substitution G A intron_variant MELA-AU 15 45041011 45041011 single base substitution G A upstream_gene_variant MELA-AU 15 45041160 45041160 single base substitution C T intron_variant MELA-AU 15 45041160 45041160 single base substitution C T upstream_gene_variant MELA-AU 15 45041173 45041173 single base substitution G A intron_variant MELA-AU 15 45041173 45041173 single base substitution G A upstream_gene_variant MELA-AU 15 45041189 45041189 single base substitution C T intron_variant MELA-AU 15 45041189 45041189 single base substitution C T upstream_gene_variant MELA-AU 15 45041939 45041939 single base substitution C T intron_variant MELA-AU 15 45041939 45041939 single base substitution C T upstream_gene_variant MELA-AU 15 45042165 45042165 single base substitution C T intron_variant MELA-AU 15 45042165 45042165 single base substitution C T upstream_gene_variant MELA-AU 15 45042449 45042449 single base substitution G A intron_variant MELA-AU 15 45042449 45042449 single base substitution G A upstream_gene_variant MELA-AU 15 45042877 45042877 single base substitution C T intron_variant MELA-AU 15 45042877 45042877 single base substitution C T upstream_gene_variant MELA-AU 15 45043022 45043022 single base substitution A G intron_variant MELA-AU 15 45043022 45043022 single base substitution A G upstream_gene_variant MELA-AU 15 45043227 45043227 single base substitution C T intron_variant MELA-AU 15 45043227 45043227 single base substitution C T upstream_gene_variant MELA-AU 15 45043327 45043327 single base substitution C T intron_variant MELA-AU 15 45043327 45043327 single base substitution C T upstream_gene_variant MELA-AU 15 45043591 45043591 single base substitution G A intron_variant MELA-AU 15 45043591 45043591 single base substitution G A upstream_gene_variant MELA-AU 15 45044555 45044555 single base substitution C T intron_variant MELA-AU 15 45044555 45044555 single base substitution C T upstream_gene_variant MELA-AU 15 45044681 45044681 single base substitution C T intron_variant MELA-AU 15 45044681 45044681 single base substitution C T upstream_gene_variant MELA-AU 15 45044903 45044903 single base substitution C T intron_variant MELA-AU 15 45044903 45044903 single base substitution C T upstream_gene_variant MELA-AU 15 45044921 45044921 single base substitution G A intron_variant MELA-AU 15 45044921 45044921 single base substitution G A upstream_gene_variant MELA-AU 15 45045226 45045226 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45045226 45045226 single base substitution G A intron_variant MELA-AU 15 45045262 45045262 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45045262 45045262 single base substitution G A intron_variant MELA-AU 15 45045424 45045424 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45045424 45045424 single base substitution C T intron_variant MELA-AU 15 45045554 45045554 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45045554 45045554 single base substitution G A intron_variant MELA-AU 15 45045760 45045760 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45045760 45045760 single base substitution C T intron_variant MELA-AU 15 45045840 45045840 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45045840 45045840 single base substitution C T intron_variant MELA-AU 15 45045879 45045879 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45045879 45045879 single base substitution C T intron_variant MELA-AU 15 45046033 45046033 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45046033 45046033 single base substitution C T intron_variant MELA-AU 15 45046033 45046033 single base substitution C T upstream_gene_variant MELA-AU 15 45046156 45046156 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45046156 45046156 single base substitution C T intron_variant MELA-AU 15 45046156 45046156 single base substitution C T upstream_gene_variant MELA-AU 15 45046687 45046687 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45046687 45046687 single base substitution G A intron_variant MELA-AU 15 45046687 45046687 single base substitution G A upstream_gene_variant MELA-AU 15 45046769 45046769 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45046769 45046769 single base substitution G A intron_variant MELA-AU 15 45046769 45046769 single base substitution G A upstream_gene_variant MELA-AU 15 45047505 45047505 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45047505 45047505 single base substitution G A intron_variant MELA-AU 15 45047505 45047505 single base substitution G A synonymous_variant K138K 414G>A MELA-AU 15 45047505 45047505 single base substitution G A upstream_gene_variant MELA-AU 15 45047536 45047536 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45047536 45047536 single base substitution G A intron_variant MELA-AU 15 45047536 45047536 single base substitution G A missense_variant E149K 445G>A MELA-AU 15 45047536 45047536 single base substitution G A upstream_gene_variant MELA-AU 15 45047653 45047653 single base substitution C T intron_variant MELA-AU 15 45047653 45047653 single base substitution C T upstream_gene_variant MELA-AU 15 45047656 45047656 single base substitution C T intron_variant MELA-AU 15 45047656 45047656 single base substitution C T upstream_gene_variant MELA-AU 15 45047660 45047660 single base substitution C T intron_variant MELA-AU 15 45047660 45047660 single base substitution C T upstream_gene_variant MELA-AU 15 45048045 45048045 single base substitution G A intron_variant MELA-AU 15 45048045 45048045 single base substitution G A upstream_gene_variant MELA-AU 15 45048238 45048238 single base substitution G T intron_variant MELA-AU 15 45048238 45048238 single base substitution G T upstream_gene_variant MELA-AU 15 45048331 45048331 single base substitution C T intron_variant MELA-AU 15 45048331 45048331 single base substitution C T upstream_gene_variant MELA-AU 15 45048467 45048467 single base substitution G A intron_variant MELA-AU 15 45048467 45048467 single base substitution G A upstream_gene_variant MELA-AU 15 45048667 45048667 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45048667 45048667 single base substitution G A splice_region_variant MELA-AU 15 45048667 45048667 single base substitution G A upstream_gene_variant MELA-AU 15 45048872 45048872 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45048872 45048872 single base substitution C T intron_variant MELA-AU 15 45048872 45048872 single base substitution C T upstream_gene_variant MELA-AU 15 45048983 45048983 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 15 45048983 45048983 single base substitution A G intron_variant MELA-AU 15 45048983 45048983 single base substitution A G upstream_gene_variant MELA-AU 15 45049035 45049035 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45049035 45049035 single base substitution C T intron_variant MELA-AU 15 45049035 45049035 single base substitution C T upstream_gene_variant MELA-AU 15 45049036 45049036 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45049036 45049036 single base substitution C T intron_variant MELA-AU 15 45049036 45049036 single base substitution C T upstream_gene_variant MELA-AU 15 45049218 45049218 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45049218 45049218 single base substitution G A intron_variant MELA-AU 15 45049218 45049218 single base substitution G A upstream_gene_variant MELA-AU 15 45049249 45049249 single base substitution C T 5_prime_UTR_variant MELA-AU 15 45049249 45049249 single base substitution C T intron_variant MELA-AU 15 45049249 45049249 single base substitution C T upstream_gene_variant MELA-AU 15 45049658 45049658 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 15 45049658 45049658 single base substitution G A intron_variant MELA-AU 15 45049658 45049658 single base substitution G A upstream_gene_variant MELA-AU 15 45050146 45050146 single base substitution G A 5_prime_UTR_variant MELA-AU 15 45050146 45050146 single base substitution G A intron_variant MELA-AU 15 45050146 45050146 single base substitution G A upstream_gene_variant MELA-AU 15 45050188 45050188 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 15 45050188 45050188 single base substitution C T intron_variant MELA-AU 15 45050188 45050188 single base substitution C T upstream_gene_variant MELA-AU 15 45050257 45050257 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 15 45050257 45050257 single base substitution G A intron_variant MELA-AU 15 45050257 45050257 single base substitution G A upstream_gene_variant MELA-AU 15 45050764 45050764 single base substitution A T 5_prime_UTR_variant MELA-AU 15 45050764 45050764 single base substitution A T intron_variant MELA-AU 15 45050764 45050764 single base substitution A T upstream_gene_variant MELA-AU 15 45051282 45051282 single base substitution C T intron_variant MELA-AU 15 45051283 45051283 single base substitution C T intron_variant MELA-AU 15 45051320 45051320 single base substitution C T intron_variant MELA-AU 15 45051579 45051579 single base substitution G A intron_variant MELA-AU 15 45051647 45051647 single base substitution G A intron_variant MELA-AU 15 45051737 45051737 single base substitution C T intron_variant MELA-AU 15 45051931 45051931 single base substitution T C intron_variant MELA-AU 15 45052288 45052288 single base substitution G A intron_variant MELA-AU 15 45052380 45052380 single base substitution C T intron_variant MELA-AU 15 45052573 45052573 single base substitution C T intron_variant MELA-AU 15 45052599 45052599 single base substitution G A intron_variant MELA-AU 15 45052760 45052760 single base substitution C T intron_variant MELA-AU 15 45053294 45053294 single base substitution T A intron_variant MELA-AU 15 45053307 45053307 single base substitution G A intron_variant MELA-AU 15 45053931 45053931 single base substitution G A intron_variant MELA-AU 15 45053995 45053995 single base substitution C T intron_variant MELA-AU 15 45053996 45053996 single base substitution C T intron_variant MELA-AU 15 45054160 45054160 single base substitution T A intron_variant MELA-AU 15 45054286 45054286 single base substitution C T intron_variant MELA-AU 15 45054580 45054580 single base substitution G A intron_variant MELA-AU 15 45054677 45054677 single base substitution G A intron_variant MELA-AU 15 45055019 45055019 single base substitution C T intron_variant MELA-AU 15 45055059 45055059 single base substitution G A intron_variant MELA-AU 15 45055154 45055154 single base substitution G A intron_variant MELA-AU 15 45055416 45055416 single base substitution T A intron_variant MELA-AU 15 45055733 45055733 single base substitution G A intron_variant MELA-AU 15 45055738 45055738 single base substitution G A intron_variant MELA-AU 15 45056644 45056644 single base substitution A T intron_variant MELA-AU 15 45056656 45056656 single base substitution T C intron_variant MELA-AU 15 45056974 45056974 single base substitution C T intron_variant MELA-AU 15 45057096 45057096 single base substitution G A intron_variant MELA-AU 15 45057307 45057307 single base substitution C T intron_variant MELA-AU 15 45057324 45057324 single base substitution C T intron_variant MELA-AU 15 45057512 45057512 single base substitution G A intron_variant MELA-AU 15 45057622 45057622 single base substitution G A intron_variant MELA-AU 15 45057637 45057637 single base substitution G A intron_variant MELA-AU 15 45057667 45057667 single base substitution C G intron_variant MELA-AU 15 45057834 45057834 single base substitution C T intron_variant MELA-AU 15 45058003 45058003 single base substitution G A intron_variant MELA-AU 15 45058139 45058139 single base substitution G A intron_variant MELA-AU 15 45058269 45058269 single base substitution G A intron_variant MELA-AU 15 45058661 45058661 single base substitution C T intron_variant MELA-AU 15 45058666 45058667 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 45058803 45058803 single base substitution C T intron_variant MELA-AU 15 45058863 45058863 single base substitution C T intron_variant MELA-AU 15 45059004 45059004 single base substitution C T intron_variant MELA-AU 15 45059421 45059421 single base substitution C T intron_variant MELA-AU 15 45059899 45059899 single base substitution C T downstream_gene_variant MELA-AU 15 45059899 45059899 single base substitution C T missense_variant P241S 721C>T MELA-AU 15 45059899 45059899 single base substitution C T missense_variant P257S 769C>T MELA-AU 15 45059899 45059899 single base substitution C T missense_variant P274S 820C>T MELA-AU 15 45059899 45059899 single base substitution C T missense_variant P319S 955C>T MELA-AU 15 45059899 45059899 single base substitution C T missense_variant P478S 1432C>T MELA-AU 15 45059934 45059934 single base substitution G A downstream_gene_variant MELA-AU 15 45059934 45059934 single base substitution G A synonymous_variant E252E 756G>A MELA-AU 15 45059934 45059934 single base substitution G A synonymous_variant E268E 804G>A MELA-AU 15 45059934 45059934 single base substitution G A synonymous_variant E285E 855G>A MELA-AU 15 45059934 45059934 single base substitution G A synonymous_variant E330E 990G>A MELA-AU 15 45059934 45059934 single base substitution G A synonymous_variant E489E 1467G>A MELA-AU 15 45060334 45060334 single base substitution G A downstream_gene_variant MELA-AU 15 45060801 45060801 single base substitution C T downstream_gene_variant MELA-AU 15 45060864 45060867 deletion of <=200bp TATG - downstream_gene_variant MELA-AU 15 45061255 45061255 single base substitution T A downstream_gene_variant MELA-AU 15 45061257 45061257 single base substitution T A downstream_gene_variant MELA-AU 15 45061709 45061709 single base substitution C T downstream_gene_variant MELA-AU 15 45062361 45062361 single base substitution T A downstream_gene_variant MELA-AU 15 45062408 45062408 single base substitution C T downstream_gene_variant MELA-AU 15 45062623 45062623 single base substitution C T downstream_gene_variant MELA-AU 15 45062644 45062644 single base substitution C T downstream_gene_variant MELA-AU 15 45062828 45062828 single base substitution C T downstream_gene_variant MELA-AU 15 45062839 45062839 single base substitution G A downstream_gene_variant MELA-AU 15 45063091 45063091 single base substitution G A downstream_gene_variant MELA-AU 15 45063733 45063733 single base substitution T A downstream_gene_variant MELA-AU 15 45063866 45063866 single base substitution C T downstream_gene_variant MELA-AU 15 45064656 45064656 single base substitution C T downstream_gene_variant MELA-AU 15 45064678 45064678 single base substitution C T downstream_gene_variant MELA-AU 15 45064868 45064868 single base substitution C T downstream_gene_variant MELA-AU 15 45064885 45064885 single base substitution G A downstream_gene_variant MELA-AU 15 45065027 45065027 single base substitution T A downstream_gene_variant ORCA-IN 15 45027634 45027634 single base substitution G A downstream_gene_variant ORCA-IN 15 45027634 45027634 single base substitution G A intron_variant ORCA-IN 15 45027634 45027634 single base substitution G A upstream_gene_variant ORCA-IN 15 45047209 45047209 single base substitution C A 5_prime_UTR_variant ORCA-IN 15 45047209 45047209 single base substitution C A intron_variant ORCA-IN 15 45047209 45047209 single base substitution C A missense_variant H40N 118C>A ORCA-IN 15 45047209 45047209 single base substitution C A upstream_gene_variant ORCA-IN 15 45059371 45059371 single base substitution G A intron_variant ORCA-IN 15 45059883 45059883 single base substitution C A downstream_gene_variant ORCA-IN 15 45059883 45059883 single base substitution C A missense_variant F235L 705C>A ORCA-IN 15 45059883 45059883 single base substitution C A missense_variant F251L 753C>A ORCA-IN 15 45059883 45059883 single base substitution C A missense_variant F268L 804C>A ORCA-IN 15 45059883 45059883 single base substitution C A missense_variant F313L 939C>A ORCA-IN 15 45059883 45059883 single base substitution C A missense_variant F472L 1416C>A OV-AU 15 45029912 45029912 single base substitution G C downstream_gene_variant OV-AU 15 45029912 45029912 single base substitution G C intron_variant OV-AU 15 45032471 45032471 single base substitution G C downstream_gene_variant OV-AU 15 45032471 45032471 single base substitution G C intron_variant OV-AU 15 45041181 45041181 single base substitution C T intron_variant OV-AU 15 45041181 45041181 single base substitution C T upstream_gene_variant OV-AU 15 45052043 45052043 single base substitution A G missense_variant R108G 322A>G OV-AU 15 45052043 45052043 single base substitution A G missense_variant R153G 457A>G OV-AU 15 45052043 45052043 single base substitution A G missense_variant R312G 934A>G OV-AU 15 45052043 45052043 single base substitution A G missense_variant R51G 151A>G OV-AU 15 45052043 45052043 single base substitution A G missense_variant R75G 223A>G OV-AU 15 45052043 45052043 single base substitution A G missense_variant R91G 271A>G OV-AU 15 45057019 45057019 single base substitution A G intron_variant OV-AU 15 45063231 45063231 single base substitution G A downstream_gene_variant PACA-AU 15 45016422 45016422 single base substitution G A upstream_gene_variant PACA-AU 15 45021560 45021560 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 15 45021560 45021560 single base substitution C T exon_variant PACA-AU 15 45021560 45021560 single base substitution C T intron_variant PACA-AU 15 45023546 45023546 single base substitution C G intron_variant PACA-AU 15 45026898 45026898 single base substitution T C downstream_gene_variant PACA-AU 15 45026898 45026898 single base substitution T C intron_variant PACA-AU 15 45026898 45026898 single base substitution T C upstream_gene_variant PACA-AU 15 45027783 45027783 single base substitution G C downstream_gene_variant PACA-AU 15 45027783 45027783 single base substitution G C intron_variant PACA-AU 15 45027783 45027783 single base substitution G C upstream_gene_variant PACA-AU 15 45035467 45035467 single base substitution A C intron_variant PACA-AU 15 45036106 45036106 single base substitution G C intron_variant PACA-AU 15 45043359 45043359 single base substitution G A intron_variant PACA-AU 15 45043359 45043359 single base substitution G A upstream_gene_variant PACA-AU 15 45044813 45044813 single base substitution C T intron_variant PACA-AU 15 45044813 45044813 single base substitution C T upstream_gene_variant PACA-AU 15 45044986 45044986 single base substitution T G intron_variant PACA-AU 15 45044986 45044986 single base substitution T G upstream_gene_variant PACA-AU 15 45045481 45045481 single base substitution T A 5_prime_UTR_variant PACA-AU 15 45045481 45045481 single base substitution T A intron_variant PACA-AU 15 45048984 45048984 single base substitution G T 5_prime_UTR_variant PACA-AU 15 45048984 45048984 single base substitution G T intron_variant PACA-AU 15 45048984 45048984 single base substitution G T upstream_gene_variant PACA-AU 15 45049837 45049837 single base substitution C A 5_prime_UTR_variant PACA-AU 15 45049837 45049837 single base substitution C A intron_variant PACA-AU 15 45049837 45049837 single base substitution C A upstream_gene_variant PACA-AU 15 45060144 45060144 single base substitution A G downstream_gene_variant PACA-AU 15 45060853 45060853 insertion of <=200bp - ATATAT downstream_gene_variant PACA-AU 15 45061278 45061278 single base substitution G T downstream_gene_variant PACA-AU 15 45064601 45064601 deletion of <=200bp T - downstream_gene_variant PACA-CA 15 45018106 45018106 single base substitution T G upstream_gene_variant PACA-CA 15 45018478 45018478 single base substitution C T upstream_gene_variant PACA-CA 15 45019099 45019099 single base substitution C A upstream_gene_variant PACA-CA 15 45019287 45019287 single base substitution A G upstream_gene_variant PACA-CA 15 45019394 45019394 single base substitution A G upstream_gene_variant PACA-CA 15 45019664 45019664 single base substitution T C upstream_gene_variant PACA-CA 15 45022422 45022422 single base substitution G A intron_variant PACA-CA 15 45025319 45025319 single base substitution C T downstream_gene_variant PACA-CA 15 45025319 45025319 single base substitution C T exon_variant PACA-CA 15 45025319 45025319 single base substitution C T intron_variant PACA-CA 15 45025319 45025319 single base substitution C T upstream_gene_variant PACA-CA 15 45025927 45025927 single base substitution T G downstream_gene_variant PACA-CA 15 45025927 45025927 single base substitution T G exon_variant PACA-CA 15 45025927 45025927 single base substitution T G intron_variant PACA-CA 15 45025927 45025927 single base substitution T G upstream_gene_variant PACA-CA 15 45026886 45026886 single base substitution C G downstream_gene_variant PACA-CA 15 45026886 45026886 single base substitution C G intron_variant PACA-CA 15 45026886 45026886 single base substitution C G upstream_gene_variant PACA-CA 15 45028827 45028827 single base substitution C A 5_prime_UTR_variant PACA-CA 15 45028827 45028827 single base substitution C A downstream_gene_variant PACA-CA 15 45029683 45029683 single base substitution A G downstream_gene_variant PACA-CA 15 45029683 45029683 single base substitution A G intron_variant PACA-CA 15 45035225 45035225 single base substitution A G intron_variant PACA-CA 15 45036660 45036660 insertion of <=200bp - A intron_variant PACA-CA 15 45039674 45039674 single base substitution A G intron_variant PACA-CA 15 45041319 45041319 single base substitution C T intron_variant PACA-CA 15 45041319 45041319 single base substitution C T upstream_gene_variant PACA-CA 15 45045498 45045498 single base substitution T A 5_prime_UTR_variant PACA-CA 15 45045498 45045498 single base substitution T A intron_variant PACA-CA 15 45046144 45046144 single base substitution C G 5_prime_UTR_variant PACA-CA 15 45046144 45046144 single base substitution C G intron_variant PACA-CA 15 45046144 45046144 single base substitution C G upstream_gene_variant PACA-CA 15 45046201 45046201 single base substitution G A 5_prime_UTR_variant PACA-CA 15 45046201 45046201 single base substitution G A intron_variant PACA-CA 15 45046201 45046201 single base substitution G A upstream_gene_variant PACA-CA 15 45047134 45047134 single base substitution G A 5_prime_UTR_variant PACA-CA 15 45047134 45047134 single base substitution G A intron_variant PACA-CA 15 45047134 45047134 single base substitution G A missense_variant D15N 43G>A PACA-CA 15 45047134 45047134 single base substitution G A upstream_gene_variant PACA-CA 15 45047573 45047573 single base substitution C T intron_variant PACA-CA 15 45047573 45047573 single base substitution C T missense_variant T161M 482C>T PACA-CA 15 45047573 45047573 single base substitution C T splice_region_variant PACA-CA 15 45047573 45047573 single base substitution C T upstream_gene_variant PACA-CA 15 45049381 45049381 single base substitution C T 5_prime_UTR_variant PACA-CA 15 45049381 45049381 single base substitution C T intron_variant PACA-CA 15 45049381 45049381 single base substitution C T upstream_gene_variant PACA-CA 15 45051041 45051041 single base substitution G A intron_variant PACA-CA 15 45051041 45051041 single base substitution G A missense_variant D109N 325G>A PACA-CA 15 45051041 45051041 single base substitution G A missense_variant D268N 802G>A PACA-CA 15 45051041 45051041 single base substitution G A missense_variant D64N 190G>A PACA-CA 15 45052420 45052420 deletion of <=200bp C - intron_variant PACA-CA 15 45053605 45053605 single base substitution T G intron_variant PACA-CA 15 45055418 45055418 insertion of <=200bp - T intron_variant PACA-CA 15 45057385 45057385 insertion of <=200bp - TTCGTTATAAA intron_variant PACA-CA 15 45058794 45058794 single base substitution A T intron_variant PACA-CA 15 45059684 45059684 single base substitution C A downstream_gene_variant PACA-CA 15 45059684 45059684 single base substitution C A missense_variant P169H 506C>A PACA-CA 15 45059684 45059684 single base substitution C A missense_variant P185H 554C>A PACA-CA 15 45059684 45059684 single base substitution C A missense_variant P202H 605C>A PACA-CA 15 45059684 45059684 single base substitution C A missense_variant P247H 740C>A PACA-CA 15 45059684 45059684 single base substitution C A missense_variant P406H 1217C>A PACA-CA 15 45060213 45060213 single base substitution C T downstream_gene_variant PACA-CA 15 45060447 45060447 single base substitution C T downstream_gene_variant PACA-CA 15 45061277 45061277 single base substitution T G downstream_gene_variant PACA-CA 15 45061278 45061278 deletion of <=200bp G - downstream_gene_variant PACA-CA 15 45064608 45064608 single base substitution T A downstream_gene_variant PAEN-AU 15 45049599 45049599 single base substitution G A 5_prime_UTR_variant PAEN-AU 15 45049599 45049599 single base substitution G A intron_variant PAEN-AU 15 45049599 45049599 single base substitution G A upstream_gene_variant PAEN-AU 15 45051770 45051770 single base substitution G C intron_variant PAEN-IT 15 45020795 45020795 single base substitution C A upstream_gene_variant PBCA-DE 15 45017453 45017453 single base substitution C G upstream_gene_variant PBCA-DE 15 45038662 45038662 insertion of <=200bp - T intron_variant PBCA-DE 15 45039722 45039722 single base substitution G T intron_variant PBCA-DE 15 45042374 45042374 single base substitution C G intron_variant PBCA-DE 15 45042374 45042374 single base substitution C G upstream_gene_variant PBCA-DE 15 45043682 45043682 single base substitution C G intron_variant PBCA-DE 15 45043682 45043682 single base substitution C G upstream_gene_variant PBCA-DE 15 45046550 45046550 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 15 45046550 45046550 single base substitution G T intron_variant PBCA-DE 15 45046550 45046550 single base substitution G T upstream_gene_variant PBCA-DE 15 45056465 45056465 single base substitution A T intron_variant PBCA-DE 15 45057960 45057960 single base substitution C T intron_variant PBCA-DE 15 45057986 45057986 single base substitution A C intron_variant PBCA-DE 15 45059303 45059303 single base substitution C A intron_variant PBCA-DE 15 45061278 45061278 insertion of <=200bp - G downstream_gene_variant PRAD-CA 15 45021521 45021521 single base substitution A C 5_prime_UTR_variant PRAD-CA 15 45021521 45021521 single base substitution A C exon_variant PRAD-CA 15 45022404 45022404 single base substitution C T intron_variant PRAD-CA 15 45031593 45031593 single base substitution C T downstream_gene_variant PRAD-CA 15 45031593 45031593 single base substitution C T intron_variant PRAD-CA 15 45050296 45050296 single base substitution T A 5_prime_UTR_variant PRAD-CA 15 45050296 45050296 single base substitution T A intron_variant PRAD-CA 15 45050296 45050296 single base substitution T A upstream_gene_variant PRAD-UK 15 45021419 45021419 insertion of <=200bp - A 5_prime_UTR_variant PRAD-UK 15 45021419 45021419 insertion of <=200bp - A exon_variant PRAD-UK 15 45021727 45021727 single base substitution G C 5_prime_UTR_variant PRAD-UK 15 45021727 45021727 single base substitution G C exon_variant PRAD-UK 15 45021727 45021727 single base substitution G C intron_variant PRAD-UK 15 45024003 45024003 single base substitution C G downstream_gene_variant PRAD-UK 15 45024003 45024003 single base substitution C G exon_variant PRAD-UK 15 45024003 45024003 single base substitution C G intron_variant PRAD-UK 15 45024003 45024003 single base substitution C G upstream_gene_variant PRAD-UK 15 45047969 45047969 single base substitution A G intron_variant PRAD-UK 15 45047969 45047969 single base substitution A G upstream_gene_variant PRAD-UK 15 45051263 45051263 single base substitution G A intron_variant PRAD-UK 15 45051556 45051556 single base substitution G A intron_variant PRAD-UK 15 45061278 45061278 single base substitution G T downstream_gene_variant READ-US 15 45047235 45047235 single base substitution C A 5_prime_UTR_variant READ-US 15 45047235 45047235 single base substitution C A intron_variant READ-US 15 45047235 45047235 single base substitution C A missense_variant F48L 144C>A READ-US 15 45047235 45047235 single base substitution C A upstream_gene_variant READ-US 15 45047513 45047513 single base substitution G A 5_prime_UTR_variant READ-US 15 45047513 45047513 single base substitution G A intron_variant READ-US 15 45047513 45047513 single base substitution G A missense_variant R141Q 422G>A READ-US 15 45047513 45047513 single base substitution G A upstream_gene_variant READ-US 15 45059668 45059668 single base substitution C T downstream_gene_variant READ-US 15 45059668 45059668 single base substitution C T missense_variant R164W 490C>T READ-US 15 45059668 45059668 single base substitution C T missense_variant R180W 538C>T READ-US 15 45059668 45059668 single base substitution C T missense_variant R197W 589C>T READ-US 15 45059668 45059668 single base substitution C T missense_variant R242W 724C>T READ-US 15 45059668 45059668 single base substitution C T missense_variant R401W 1201C>T RECA-EU 15 45017445 45017445 single base substitution C T upstream_gene_variant RECA-EU 15 45023849 45023849 single base substitution G A exon_variant RECA-EU 15 45023849 45023849 single base substitution G A intron_variant RECA-EU 15 45023849 45023849 single base substitution G A upstream_gene_variant RECA-EU 15 45052970 45052970 single base substitution T A intron_variant RECA-EU 15 45053946 45053946 single base substitution A T intron_variant RECA-EU 15 45058740 45058740 single base substitution A T intron_variant SKCA-BR 15 45016266 45016266 single base substitution G A upstream_gene_variant SKCA-BR 15 45017429 45017429 insertion of <=200bp - GTATCTAGC upstream_gene_variant SKCA-BR 15 45024625 45024625 single base substitution C A downstream_gene_variant SKCA-BR 15 45024625 45024625 single base substitution C A exon_variant SKCA-BR 15 45024625 45024625 single base substitution C A intron_variant SKCA-BR 15 45024625 45024625 single base substitution C A upstream_gene_variant SKCA-BR 15 45025155 45025156 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 15 45025155 45025156 deletion of <=200bp AT - exon_variant SKCA-BR 15 45025155 45025156 deletion of <=200bp AT - intron_variant SKCA-BR 15 45025155 45025156 deletion of <=200bp AT - upstream_gene_variant SKCA-BR 15 45025413 45025413 single base substitution C T downstream_gene_variant SKCA-BR 15 45025413 45025413 single base substitution C T exon_variant SKCA-BR 15 45025413 45025413 single base substitution C T intron_variant SKCA-BR 15 45025413 45025413 single base substitution C T upstream_gene_variant SKCA-BR 15 45028969 45028969 single base substitution A T downstream_gene_variant SKCA-BR 15 45028969 45028969 single base substitution A T intron_variant SKCA-BR 15 45029511 45029511 single base substitution C T downstream_gene_variant SKCA-BR 15 45029511 45029511 single base substitution C T intron_variant SKCA-BR 15 45030947 45030947 single base substitution A T downstream_gene_variant SKCA-BR 15 45030947 45030947 single base substitution A T intron_variant SKCA-BR 15 45031497 45031497 single base substitution G A downstream_gene_variant SKCA-BR 15 45031497 45031497 single base substitution G A intron_variant SKCA-BR 15 45031876 45031876 single base substitution G A downstream_gene_variant SKCA-BR 15 45031876 45031876 single base substitution G A intron_variant SKCA-BR 15 45033201 45033201 single base substitution C A downstream_gene_variant SKCA-BR 15 45033201 45033201 single base substitution C A intron_variant SKCA-BR 15 45034139 45034139 single base substitution G A intron_variant SKCA-BR 15 45034261 45034261 single base substitution C T intron_variant SKCA-BR 15 45034636 45034636 single base substitution A G intron_variant SKCA-BR 15 45034741 45034741 single base substitution T C intron_variant SKCA-BR 15 45035211 45035211 single base substitution C T intron_variant SKCA-BR 15 45035505 45035506 deletion of <=200bp AT - intron_variant SKCA-BR 15 45039114 45039114 single base substitution G A intron_variant SKCA-BR 15 45039231 45039231 single base substitution C T intron_variant SKCA-BR 15 45045276 45045276 single base substitution T G 5_prime_UTR_variant SKCA-BR 15 45045276 45045276 single base substitution T G intron_variant SKCA-BR 15 45045424 45045424 single base substitution C T 5_prime_UTR_variant SKCA-BR 15 45045424 45045424 single base substitution C T intron_variant SKCA-BR 15 45045943 45045943 single base substitution C T 5_prime_UTR_variant SKCA-BR 15 45045943 45045943 single base substitution C T intron_variant SKCA-BR 15 45046321 45046323 deletion of <=200bp CCT - 5_prime_UTR_variant SKCA-BR 15 45046321 45046323 deletion of <=200bp CCT - intron_variant SKCA-BR 15 45046321 45046323 deletion of <=200bp CCT - upstream_gene_variant SKCA-BR 15 45048885 45048885 single base substitution G A 5_prime_UTR_variant SKCA-BR 15 45048885 45048885 single base substitution G A intron_variant SKCA-BR 15 45048885 45048885 single base substitution G A upstream_gene_variant SKCA-BR 15 45050080 45050080 single base substitution C T 5_prime_UTR_variant SKCA-BR 15 45050080 45050080 single base substitution C T intron_variant SKCA-BR 15 45050080 45050080 single base substitution C T upstream_gene_variant SKCA-BR 15 45053509 45053509 single base substitution G A intron_variant SKCA-BR 15 45056778 45056778 single base substitution C T intron_variant SKCA-BR 15 45057097 45057097 single base substitution G T intron_variant SKCA-BR 15 45058704 45058704 single base substitution C T intron_variant SKCA-BR 15 45058705 45058705 single base substitution G C intron_variant SKCA-BR 15 45060107 45060107 single base substitution C T downstream_gene_variant SKCA-BR 15 45061094 45061094 single base substitution T A downstream_gene_variant SKCA-BR 15 45061697 45061697 single base substitution G A downstream_gene_variant SKCA-BR 15 45062894 45062894 single base substitution G A downstream_gene_variant SKCA-BR 15 45063786 45063786 single base substitution C T downstream_gene_variant SKCA-BR 15 45064021 45064021 single base substitution C T downstream_gene_variant SKCM-US 15 45047124 45047124 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 15 45047124 45047124 single base substitution C T intron_variant SKCM-US 15 45047124 45047124 single base substitution C T synonymous_variant I11I 33C>T SKCM-US 15 45047124 45047124 single base substitution C T upstream_gene_variant SKCM-US 15 45047410 45047410 single base substitution C T 5_prime_UTR_variant SKCM-US 15 45047410 45047410 single base substitution C T intron_variant SKCM-US 15 45047410 45047410 single base substitution C T missense_variant P107S 319C>T SKCM-US 15 45047410 45047410 single base substitution C T upstream_gene_variant SKCM-US 15 45047536 45047536 single base substitution G A 5_prime_UTR_variant SKCM-US 15 45047536 45047536 single base substitution G A intron_variant SKCM-US 15 45047536 45047536 single base substitution G A missense_variant E149K 445G>A SKCM-US 15 45047536 45047536 single base substitution G A upstream_gene_variant SKCM-US 15 45050851 45050851 single base substitution C T 5_prime_UTR_variant SKCM-US 15 45050851 45050851 single base substitution C T intron_variant SKCM-US 15 45050851 45050851 single base substitution C T synonymous_variant S204S 612C>T SKCM-US 15 45050851 45050851 single base substitution C T synonymous_variant S45S 135C>T SKCM-US 15 45050851 45050851 single base substitution C T upstream_gene_variant SKCM-US 15 45050878 45050878 single base substitution C T intron_variant SKCM-US 15 45050878 45050878 single base substitution C T synonymous_variant F213F 639C>T SKCM-US 15 45050878 45050878 single base substitution C T synonymous_variant F54F 162C>T SKCM-US 15 45050878 45050878 single base substitution C T synonymous_variant F9F 27C>T SKCM-US 15 45050878 45050878 single base substitution C T upstream_gene_variant SKCM-US 15 45050909 45050909 single base substitution G A intron_variant SKCM-US 15 45050909 45050909 single base substitution G A missense_variant E20K 58G>A SKCM-US 15 45050909 45050909 single base substitution G A missense_variant E224K 670G>A SKCM-US 15 45050909 45050909 single base substitution G A missense_variant E65K 193G>A SKCM-US 15 45050909 45050909 single base substitution G A upstream_gene_variant SKCM-US 15 45050916 45050916 single base substitution G T intron_variant SKCM-US 15 45050916 45050916 single base substitution G T missense_variant R226L 677G>T SKCM-US 15 45050916 45050916 single base substitution G T missense_variant R22L 65G>T SKCM-US 15 45050916 45050916 single base substitution G T missense_variant R67L 200G>T SKCM-US 15 45050916 45050916 single base substitution G T upstream_gene_variant SKCM-US 15 45050926 45050926 single base substitution G A intron_variant SKCM-US 15 45050926 45050926 single base substitution G A synonymous_variant G229G 687G>A SKCM-US 15 45050926 45050926 single base substitution G A synonymous_variant G25G 75G>A SKCM-US 15 45050926 45050926 single base substitution G A synonymous_variant G70G 210G>A SKCM-US 15 45050926 45050926 single base substitution G A upstream_gene_variant SKCM-US 15 45051047 45051047 single base substitution C T intron_variant SKCM-US 15 45051047 45051047 single base substitution C T missense_variant L111F 331C>T SKCM-US 15 45051047 45051047 single base substitution C T missense_variant L270F 808C>T SKCM-US 15 45051047 45051047 single base substitution C T missense_variant L66F 196C>T SKCM-US 15 45052046 45052046 single base substitution G A missense_variant E109K 325G>A SKCM-US 15 45052046 45052046 single base substitution G A missense_variant E154K 460G>A SKCM-US 15 45052046 45052046 single base substitution G A missense_variant E313K 937G>A SKCM-US 15 45052046 45052046 single base substitution G A missense_variant E52K 154G>A SKCM-US 15 45052046 45052046 single base substitution G A missense_variant E76K 226G>A SKCM-US 15 45052046 45052046 single base substitution G A missense_variant E92K 274G>A SKCM-US 15 45052067 45052067 single base substitution C A missense_variant P116T 346C>A SKCM-US 15 45052067 45052067 single base substitution C A missense_variant P161T 481C>A SKCM-US 15 45052067 45052067 single base substitution C A missense_variant P320T 958C>A SKCM-US 15 45052067 45052067 single base substitution C A missense_variant P59T 175C>A SKCM-US 15 45052067 45052067 single base substitution C A missense_variant P83T 247C>A SKCM-US 15 45052067 45052067 single base substitution C A missense_variant P99T 295C>A SKCM-US 15 45059500 45059500 single base substitution G A missense_variant V108I 322G>A SKCM-US 15 45059500 45059500 single base substitution G A missense_variant V124I 370G>A SKCM-US 15 45059500 45059500 single base substitution G A missense_variant V141I 421G>A SKCM-US 15 45059500 45059500 single base substitution G A missense_variant V186I 556G>A SKCM-US 15 45059500 45059500 single base substitution G A missense_variant V345I 1033G>A SKCM-US 15 45059500 45059500 single base substitution G A missense_variant V84I 250G>A SKCM-US 15 45059759 45059759 single base substitution C T downstream_gene_variant SKCM-US 15 45059759 45059759 single base substitution C T missense_variant S194F 581C>T SKCM-US 15 45059759 45059759 single base substitution C T missense_variant S210F 629C>T SKCM-US 15 45059759 45059759 single base substitution C T missense_variant S227F 680C>T SKCM-US 15 45059759 45059759 single base substitution C T missense_variant S272F 815C>T SKCM-US 15 45059759 45059759 single base substitution C T missense_variant S431F 1292C>T SKCM-US 15 45059798 45059798 single base substitution G A downstream_gene_variant SKCM-US 15 45059798 45059798 single base substitution G A missense_variant G207D 620G>A SKCM-US 15 45059798 45059798 single base substitution G A missense_variant G223D 668G>A SKCM-US 15 45059798 45059798 single base substitution G A missense_variant G240D 719G>A SKCM-US 15 45059798 45059798 single base substitution G A missense_variant G285D 854G>A SKCM-US 15 45059798 45059798 single base substitution G A missense_variant G444D 1331G>A SKCM-US 15 45059941 45059941 single base substitution G A downstream_gene_variant SKCM-US 15 45059941 45059941 single base substitution G A missense_variant E255K 763G>A SKCM-US 15 45059941 45059941 single base substitution G A missense_variant E271K 811G>A SKCM-US 15 45059941 45059941 single base substitution G A missense_variant E288K 862G>A SKCM-US 15 45059941 45059941 single base substitution G A missense_variant E333K 997G>A SKCM-US 15 45059941 45059941 single base substitution G A missense_variant E492K 1474G>A STAD-US 15 45047120 45047120 single base substitution A G 5_prime_UTR_variant STAD-US 15 45047120 45047120 single base substitution A G intron_variant STAD-US 15 45047120 45047120 single base substitution A G missense_variant N10S 29A>G STAD-US 15 45047120 45047120 single base substitution A G upstream_gene_variant STAD-US 15 45047126 45047126 single base substitution A G 5_prime_UTR_variant STAD-US 15 45047126 45047126 single base substitution A G intron_variant STAD-US 15 45047126 45047126 single base substitution A G missense_variant D12G 35A>G STAD-US 15 45047126 45047126 single base substitution A G upstream_gene_variant STAD-US 15 45050837 45050837 single base substitution C A 5_prime_UTR_variant STAD-US 15 45050837 45050837 single base substitution C A intron_variant STAD-US 15 45050837 45050837 single base substitution C A missense_variant Q200K 598C>A STAD-US 15 45050837 45050837 single base substitution C A missense_variant Q41K 121C>A STAD-US 15 45050837 45050837 single base substitution C A upstream_gene_variant STAD-US 15 45059668 45059668 single base substitution C A downstream_gene_variant STAD-US 15 45059668 45059668 single base substitution C A synonymous_variant R164R 490C>A STAD-US 15 45059668 45059668 single base substitution C A synonymous_variant R180R 538C>A STAD-US 15 45059668 45059668 single base substitution C A synonymous_variant R197R 589C>A STAD-US 15 45059668 45059668 single base substitution C A synonymous_variant R242R 724C>A STAD-US 15 45059668 45059668 single base substitution C A synonymous_variant R401R 1201C>A STAD-US 15 45059837 45059837 single base substitution A G downstream_gene_variant STAD-US 15 45059837 45059837 single base substitution A G missense_variant Y220C 659A>G STAD-US 15 45059837 45059837 single base substitution A G missense_variant Y236C 707A>G STAD-US 15 45059837 45059837 single base substitution A G missense_variant Y253C 758A>G STAD-US 15 45059837 45059837 single base substitution A G missense_variant Y298C 893A>G STAD-US 15 45059837 45059837 single base substitution A G missense_variant Y457C 1370A>G THCA-SA 15 45047134 45047134 single base substitution G A 5_prime_UTR_variant THCA-SA 15 45047134 45047134 single base substitution G A intron_variant THCA-SA 15 45047134 45047134 single base substitution G A missense_variant D15N 43G>A THCA-SA 15 45047134 45047134 single base substitution G A upstream_gene_variant UCEC-US 15 45047138 45047138 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 15 45047138 45047138 single base substitution A G intron_variant UCEC-US 15 45047138 45047138 single base substitution A G missense_variant Y16C 47A>G UCEC-US 15 45047138 45047138 single base substitution A G upstream_gene_variant UCEC-US 15 45047236 45047236 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 15 45047236 45047236 single base substitution C T intron_variant UCEC-US 15 45047236 45047236 single base substitution C T stop_gained R49* 145C>T UCEC-US 15 45047236 45047236 single base substitution C T upstream_gene_variant UCEC-US 15 45047531 45047531 single base substitution C A 5_prime_UTR_variant UCEC-US 15 45047531 45047531 single base substitution C A intron_variant UCEC-US 15 45047531 45047531 single base substitution C A missense_variant S147Y 440C>A UCEC-US 15 45047531 45047531 single base substitution C A upstream_gene_variant UCEC-US 15 45048627 45048627 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 15 45048627 45048627 single base substitution G T missense_variant R182M 545G>T UCEC-US 15 45048627 45048627 single base substitution G T missense_variant R23M 68G>T UCEC-US 15 45048627 45048627 single base substitution G T upstream_gene_variant UCEC-US 15 45051858 45051858 single base substitution T C splice_region_variant UCEC-US 15 45059620 45059620 single base substitution G T missense_variant A124S 370G>T UCEC-US 15 45059620 45059620 single base substitution G T missense_variant A148S 442G>T UCEC-US 15 45059620 45059620 single base substitution G T missense_variant A164S 490G>T UCEC-US 15 45059620 45059620 single base substitution G T missense_variant A181S 541G>T UCEC-US 15 45059620 45059620 single base substitution G T missense_variant A226S 676G>T UCEC-US 15 45059620 45059620 single base substitution G T missense_variant A385S 1153G>T UCEC-US 15 45059668 45059668 single base substitution C T downstream_gene_variant UCEC-US 15 45059668 45059668 single base substitution C T missense_variant R164W 490C>T UCEC-US 15 45059668 45059668 single base substitution C T missense_variant R180W 538C>T UCEC-US 15 45059668 45059668 single base substitution C T missense_variant R197W 589C>T UCEC-US 15 45059668 45059668 single base substitution C T missense_variant R242W 724C>T UCEC-US 15 45059668 45059668 single base substitution C T missense_variant R401W 1201C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AG-3892-01 COSM258243 c.1189G>T p.E397* Substitution - Nonsense 15:44767458-44767458 + TCGA-66-2773-01 COSM700443 c.195C>G p.I65M Substitution - Missense 15:44755088-44755088 + TCGA-EE-A180-06 COSM3501596 c.319C>T p.P107S Substitution - Missense 15:44755212-44755212 + TCGA-FS-A1Z3-06 COSM2189191 c.1474G>A p.E492K Substitution - Missense 15:44767743-44767743 + CSCC-38-T COSM4461902 c.1225C>T p.P409S Substitution - Missense 15:44767494-44767494 + TCGA-BR-4362-01 COSM4055108 c.1370A>G p.Y457C Substitution - Missense 15:44767639-44767639 + TCGA-GF-A3OT-06 COSM3501598 c.612C>T p.S204S Substitution - coding silent 15:44758653-44758653 + TCGA-BP-5008-01 COSM1493430 c.295T>C p.L99L Substitution - coding silent 15:44755188-44755188 + BCB157T COSM3501599 c.670G>A p.E224K Substitution - Missense 15:44758711-44758711 + 587298 COSM1230408 c.124C>T p.P42S Substitution - Missense 15:44755017-44755017 + 250LT COSM4382748 c.677G>A p.R226Q Substitution - Missense 15:44758718-44758718 + TCGA-FS-A4F0-06 COSM3501603 c.937G>A p.E313K Substitution - Missense 15:44759848-44759848 + TCGA-BR-8680-01 COSM4055107 c.1201C>A p.R401R Substitution - coding silent 15:44767470-44767470 + TCGA-G2-A3IE-01 COSM1301159 c.415G>C p.D139H Substitution - Missense 15:44755308-44755308 + CSCC-60-T COSM4545921 c.388G>T p.G130W Substitution - Missense 15:44755281-44755281 + CRC-06T COSM5456486 c.42C>T p.G14G Substitution - coding silent 15:44754935-44754935 + YURUS COSM1708096 c.1187G>A p.R396K Substitution - Missense 15:44767456-44767456 + TCGA-HU-A4GT-01 COSM4055104 c.29A>G p.N10S Substitution - Missense 15:44754922-44754922 + LUAD-RT-S01699 COSM378202 c.1290T>G p.P430P Substitution - coding silent 15:44767559-44767559 + TCGA-AA-A010-01 COSM285959 c.1292C>T p.S431F Substitution - Missense 15:44767561-44767561 + TCGA-AX-A05Z-01 COSM962160 c.1201C>T p.R401W Substitution - Missense 15:44767470-44767470 + TCGA-CG-5721-01 COSM4055106 c.598C>A p.Q200K Substitution - Missense 15:44758639-44758639 + YUGURT COSM5383387 c.37C>T p.P13S Substitution - Missense 15:44754930-44754930 + ESCC_146 COSM5644647 c.647G>T p.S216I Substitution - Missense 15:44758688-44758688 + ESO-169 COSM1268577 c.644A>G p.H215R Substitution - Missense 15:44758685-44758685 + TCGA-DM-A1HB-01 COSM5168616 c.1040A>G p.H347R Substitution - Missense 15:44767309-44767309 + TCGA-A8-A0A6-01 COSM3816181 c.74A>C p.H25P Substitution - Missense 15:44754967-44754967 + YUKAT COSM5383386 c.3G>A p.M1I Substitution - Missense 15:44736707-44736707 + HCT-116 COSM1678429 c.269G>A p.C90Y Substitution - Missense 15:44755162-44755162 + PTC-7C COSM4148785 c.43G>A p.D15N Substitution - Missense 15:44754936-44754936 + HCC2998 COSM2189179 c.390G>T p.G130G Substitution - coding silent 15:44755283-44755283 + TCGA-BR-8291-01 COSM4055105 c.35A>G p.D12G Substitution - Missense 15:44754928-44754928 + T636 COSM4736218 c.1005T>C p.N335N Substitution - coding silent 15:44767274-44767274 + 8034291 COSM3386895 c.1227T>C p.P409P Substitution - coding silent 15:44767496-44767496 + TCGA-BG-A0M0-01 COSM962154 c.145C>T p.R49* Substitution - Nonsense 15:44755038-44755038 + HT55 COSM2189175 c.298G>T p.V100L Substitution - Missense 15:44755191-44755191 + TCGA-EE-A2MS-06 COSM167226 c.33C>T p.I11I Substitution - coding silent 15:44754926-44754926 + PD13307a COSM5773387 c.483+4G>T p.? Unknown 15:44755380-44755380 + CSCC-11-T COSM4552449 c.559G>A p.E187K Substitution - Missense 15:44756443-44756443 + TCGA-AN-A046-01 COSM3816184 c.1422G>A p.E474E Substitution - coding silent 15:44767691-44767691 + YURED COSM285959 c.1292C>T p.S431F Substitution - Missense 15:44767561-44767561 + LUAD-CHTN-Z4716A COSM361799 c.1072C>T p.P358S Substitution - Missense 15:44767341-44767341 + TCGA-EE-A2MS-06 COSM3501601 c.687G>A p.G229G Substitution - coding silent 15:44758728-44758728 + TCGA-ER-A19M-06 COSM1230406 c.1033G>A p.V345I Substitution - Missense 15:44767302-44767302 + PT37 COSM5920906 c.1261C>T p.Q421* Substitution - Nonsense 15:44767530-44767530 + TCGA-A8-A0A6-01 COSM3816183 c.1399A>C p.T467P Substitution - Missense 15:44767668-44767668 + PCSI_0083_Pa_P_526 COSM3786518 c.802G>A p.D268N Substitution - Missense 15:44758843-44758843 + PT19_1 COSM5899686 c.1265C>T p.T422I Substitution - Missense 15:44767534-44767534 + TCGA-EA-A1QT-01 COSM459019 c.146G>A p.R49Q Substitution - Missense 15:44755039-44755039 + C086 COSM5540828 c.1444C>T p.P482S Substitution - Missense 15:44767713-44767713 + CS10 COSM4967464 c.916A>T p.I306F Substitution - Missense 15:44759827-44759827 + OSCC-GB_00810111 COSM4891301 c.118C>A p.H40N Substitution - Missense 15:44755011-44755011 + TCGA-FU-A3HZ-01 COSM4839784 c.792G>T p.Q264H Substitution - Missense 15:44758833-44758833 + OSCC-GB_00990111 COSM4885686 c.1416C>A p.F472L Substitution - Missense 15:44767685-44767685 + DLBCL-PatientF COSM221336 c.1475A>G p.E492G Substitution - Missense 15:44767744-44767744 + TCGA-D1-A17Q-01 COSM962155 c.440C>A p.S147Y Substitution - Missense 15:44755333-44755333 + KPOPBR-03-T COSM5027963 c.841G>C p.E281Q Substitution - Missense 15:44759752-44759752 + PTC_215 COSM4148785 c.43G>A p.D15N Substitution - Missense 15:44754936-44754936 + YUSAG COSM1708097 c.1321G>A p.D441N Substitution - Missense 15:44767590-44767590 + TCGA-33-4532-01 COSM700441 c.1128A>T p.G376G Substitution - coding silent 15:44767397-44767397 + CSCC-11-T COSM4572584 c.796T>A p.S266T Substitution - Missense 15:44758837-44758837 + TCGA-P4-A5EB-01 COSM3987977 c.484-1G>C p.? Unknown 15:44756367-44756367 + CSCC-11-T COSM4556280 c.686G>A p.G229E Substitution - Missense 15:44758727-44758727 + TCGA-A6-3809-01 COSM1373132 c.859C>A p.L287M Substitution - Missense 15:44759770-44759770 + TCGA-BK-A139-01 COSM962158 c.834T>C p.H278H Substitution - coding silent 15:44759660-44759660 + T2269 COSM1708097 c.1321G>A p.D441N Substitution - Missense 15:44767590-44767590 + TCGA-EE-A180-06 COSM3501602 c.808C>T p.L270F Substitution - Missense 15:44758849-44758849 + PCSI_0081_Pa_X COSM5420317 c.482C>T p.T161M Substitution - Missense 15:44755375-44755375 + TCGA-18-3409-01 COSM700442 c.918C>T p.I306I Substitution - coding silent 15:44759829-44759829 + TCGA-B5-A0JY-01 COSM962153 c.47A>G p.Y16C Substitution - Missense 15:44754940-44754940 + TCGA-EE-A2MD-06 COSM3501597 c.445G>A p.E149K Substitution - Missense 15:44755338-44755338 + CSCC-30-T COSM4568237 c.1041T>G p.H347Q Substitution - Missense 15:44767310-44767310 + ESO-085 COSM1268576 c.1293T>C p.S431S Substitution - coding silent 15:44767562-44767562 + cSCCP4 COSM138963 c.652G>A p.E218K Substitution - Missense 15:44758693-44758693 + HT115 COSM2189178 c.387T>C p.D129D Substitution - coding silent 15:44755280-44755280 + 587376 COSM1230407 c.652G>T p.E218* Substitution - Nonsense 15:44758693-44758693 + PCSI_0170_Pa_P_526 COSM4964936 c.1217C>A p.P406H Substitution - Missense 15:44767486-44767486 + S0049 COSM5882574 c.740G>A p.C247Y Substitution - Missense 15:44758781-44758781 + TCGA-FW-A3R5-06 COSM3887043 c.639C>T p.F213F Substitution - coding silent 15:44758680-44758680 + ESCC_BICR_048T COSM5432322 c.344G>T p.C115F Substitution - Missense 15:44755237-44755237 + TCGA-AP-A059-01 COSM962159 c.1153G>T p.A385S Substitution - Missense 15:44767422-44767422 + TCGA-F5-6813-01 COSM1562913 c.422G>A p.R141Q Substitution - Missense 15:44755315-44755315 + TCGA-EE-A3J5-06 COSM3501601 c.687G>A p.G229G Substitution - coding silent 15:44758728-44758728 + Au4 COSM5605186 c.1432C>T p.P478S Substitution - Missense 15:44767701-44767701 + TCGA-F5-6814-01 COSM962160 c.1201C>T p.R401W Substitution - Missense 15:44767470-44767470 + BCB157T COSM3501599 c.670G>A p.E224K Substitution - Missense 15:44758711-44758711 + RK199_C01 COSM3744623 c.801C>A p.F267L Substitution - Missense 15:44758842-44758842 + TCGA-AX-A06H-01 COSM962157 c.783G>A p.T261T Substitution - coding silent 15:44758824-44758824 + C008 COSM5524088 c.514G>T p.E172* Substitution - Nonsense 15:44756398-44756398 + PCSI_0330_Pa_P_526 COSM4148785 c.43G>A p.D15N Substitution - Missense 15:44754936-44754936 + TCGA-AA-A00N-01 COSM277809 c.1141G>A p.E381K Substitution - Missense 15:44767410-44767410 + TCGA-AA-3989-01 COSM298034 c.41G>A p.G14D Substitution - Missense 15:44754934-44754934 + TCGA-C8-A26Y-01 COSM3816182 c.246G>A p.K82K Substitution - coding silent 15:44755139-44755139 + 587222 COSM1230405 c.360G>T p.E120D Substitution - Missense 15:44755253-44755253 + TCGA-D3-A2J7-06 COSM285959 c.1292C>T p.S431F Substitution - Missense 15:44767561-44767561 + TCGA-AY-5543-01 COSM1373133 c.1047C>T p.D349D Substitution - coding silent 15:44767316-44767316 + TCGA-B5-A0JY-01 COSM962156 c.545G>T p.R182M Substitution - Missense 15:44756429-44756429 + HCT116 COSM1678429 c.269G>A p.C90Y Substitution - Missense 15:44755162-44755162 + TCGA-CK-4951-01 COSM5148478 c.222G>A p.K74K Substitution - coding silent 15:44755115-44755115 + TCGA-EE-A182-06 COSM3501599 c.670G>A p.E224K Substitution - Missense 15:44758711-44758711 + TCGA-F5-6814-01 COSM3420334 c.144C>A p.F48L Substitution - Missense 15:44755037-44755037 + TCGA-EE-A2MJ-06 COSM3501605 c.1331G>A p.G444D Substitution - Missense 15:44767600-44767600 + Gp5D COSM2189192 c.1491A>G p.L497L Substitution - coding silent 15:44767760-44767760 + YUPAT COSM1708095 c.152C>T p.P51L Substitution - Missense 15:44755045-44755045 + HT115 COSM2189188 c.1348G>T p.E450* Substitution - Nonsense 15:44767617-44767617 + TCGA-EE-A29E-06 COSM3501604 c.958C>A p.P320T Substitution - Missense 15:44759869-44759869 + LUAD-YINHD COSM349037 c.327C>G p.L109L Substitution - coding silent 15:44755220-44755220 + PCSI_0083_Pa_X COSM3786518 c.802G>A p.D268N Substitution - Missense 15:44758843-44758843 + TCGA-DU-5854-01 COSM3969122 c.621T>C p.F207F Substitution - coding silent 15:44758662-44758662 + AOCS-106-1-1 COSM3981523 c.934A>G p.R312G Substitution - Missense 15:44759845-44759845 + 587338 COSM1230406 c.1033G>A p.V345I Substitution - Missense 15:44767302-44767302 + LUAD-E00934 COSM393249 c.917T>C p.I306T Substitution - Missense 15:44759828-44759828 + Pat_06_A COSM5849255 c.988delA p.T331fs*23 Deletion - Frameshift 15:44767257-44767257 + LUAD-NYU847 COSM376635 c.167G>T p.C56F Substitution - Missense 15:44755060-44755060 + T2940 COSM4736217 c.7G>A p.V3I Substitution - Missense 15:44754900-44754900 + BRC39 COSM5027963 c.841G>C p.E281Q Substitution - Missense 15:44759752-44759752 + BD202T COSM5501388 c.676C>T p.R226W Substitution - Missense 15:44758717-44758717 + TCGA-EE-A184-06 COSM3501600 c.677G>T p.R226L Substitution - Missense 15:44758718-44758718 + CSCC-60-T COSM700442 c.918C>T p.I306I Substitution - coding silent 15:44759829-44759829 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.489254 15q21.1 Hs.733880;Hs.733882;Hs.733883;Hs.733884;Hs.733885;Hs.733886;Hs.733887;Hs.733888;Hs.733889;Hs.733890;Hs.733891;Hs.733893;Hs.733894;Hs.733895;Hs.733896;Hs.733897;Hs.733898;Hs.733900;Hs.733901;Hs.733902;Hs.733903;Hs.733904;Hs.733905;Hs.733906;Hs.733907;Hs.733908;Hs.733909;Hs.733910;Hs.733911;Hs.733912;Hs.733913 15q21.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D356G c.1067A>G 15 45059534 CM A G Missense p.H215R c.644A>G 15 45050883 ESCA A G Missense p.K148R c.443A>G 15 45047534 LUAD A G Missense p.M53V c.157A>G 15 45047248 HNSC A T Missense p.Q500L c.1499A>T 15 45059966 LUAD A T Nonsense p.K104* c.310A>T 15 45047401 HNSC A T Synonymous p.G376G c.1128A>T 15 45059595 LUSC C A Nonsense p.Y302* c.906C>A 15 45052015 LUAD C G Missense p.I65M c.195C>G 15 45047286 LUSC C - IntronicDeletion . c.580-251delC 15 45050567 CM C T IntronicSNV . c.7-24C>T 15 45047074 CM C T Missense p.L270F c.808C>T 15 45051047 CM C T Missense p.P107S c.319C>T 15 45047410 CM C T Missense p.P409L c.1226C>T 15 45059693 LUAD C T Missense p.P478S c.1432C>T 15 45059899 CM C T Missense p.S431F c.1292C>T 15 45059759 CM C T Nonsense p.R49* c.145C>T 15 45047236 UCEC C T Synonymous p.I11I c.33C>T 15 45047124 CM G A Missense p.E149K c.445G>A 15 45047536 CM G A Missense p.E224K c.670G>A 15 45050909 CM G A Missense p.E492K c.1474G>A 15 45059941 CM G A Missense p.G14D c.41G>A 15 45047132 COREAD G A Missense p.G444D c.1331G>A 15 45059798 CM G A Synonymous p.G229G c.687G>A 15 45050926 CM G C Missense p.D139H c.415G>C 15 45047506 BLCA G C Missense p.E281Q c.841G>C 15 45051950 BRCA G T Missense p.R226L c.677G>T 15 45050916 CM G T Synonymous p.L299L c.897G>T 15 45052006 LUAD T C Synonymous p.F207F c.621T>C 15 45050860 LGG T C Synonymous p.H278H c.834T>C 15 45051858 UCEC T C Synonymous p.S431S c.1293T>C 15 45059760 ESCA