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 68937665 68937665 + Missense_Mutation SNP G G C TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr15:68937665G>C c.182G>C c.(181-183)gGg>gCg p.G61A BLCA 15 68937670 68937670 + Missense_Mutation SNP G G A TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chr15:68937670G>A c.187G>A c.(187-189)Ggc>Agc p.G63S BLCA 15 68937671 68937671 + Missense_Mutation SNP G G T TCGA-BT-A20O-01A-21D-A14W-08 TCGA-BT-A20O-11A-11D-A14W-08 g.chr15:68937671G>T c.188G>T c.(187-189)gGc>gTc p.G63V BLCA 15 68987486 68987486 + Missense_Mutation SNP G G A TCGA-DK-A2HX-01A-12D-A18F-08 TCGA-DK-A2HX-10A-01D-A18F-08 g.chr15:68987486G>A c.224G>A c.(223-225)aGg>aAg p.R75K BLCA 15 68987595 68987595 + Splice_Site SNP G G A TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr15:68987595G>A c.333G>A c.(331-333)tcG>tcA p.S111S BLCA 15 69003924 69003924 + Missense_Mutation SNP T T C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr15:69003924T>C c.527T>C c.(526-528)aTt>aCt p.I176T BLCA 15 69003926 69003926 + Missense_Mutation SNP G G T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr15:69003926G>T c.529G>T c.(529-531)Gac>Tac p.D177Y BLCA 15 69003961 69003961 + Silent SNP C C T TCGA-XF-A8HI-01A-11D-A38G-08 TCGA-XF-A8HI-10A-01D-A38J-08 g.chr15:69003961C>T c.564C>T c.(562-564)ttC>ttT p.F188F BLCA 15 69006944 69006944 + Missense_Mutation SNP C C T TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr15:69006944C>T c.812C>T c.(811-813)tCt>tTt p.S271F BLCA 15 69011861 69011861 + Silent SNP A A G TCGA-UY-A9PA-01A-11D-A38G-08 TCGA-UY-A9PA-10A-01D-A38J-08 g.chr15:69011861A>G c.1281A>G c.(1279-1281)ttA>ttG p.L427L BLCA 15 69018260 69018260 + Missense_Mutation SNP C C T TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr15:69018260C>T c.1390C>T c.(1390-1392)Cgg>Tgg p.R464W BRCA 15 69003905 69003905 + Missense_Mutation SNP G G T TCGA-BH-A0W4-01A-11D-A10G-09 TCGA-BH-A0W4-10A-01D-A10G-09 g.chr15:69003905G>T c.508G>T c.(508-510)Ggt>Tgt p.G170C BRCA 15 69003908 69003908 + Missense_Mutation SNP G G A TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chr15:69003908G>A c.511G>A c.(511-513)Gag>Aag p.E171K BRCA 15 69004035 69004035 + Missense_Mutation SNP G G A TCGA-C8-A3M7-01A-12D-A21Q-09 TCGA-C8-A3M7-10A-01D-A21Q-09 g.chr15:69004035G>A c.638G>A c.(637-639)cGt>cAt p.R213H BRCA 15 69018290 69018290 + Missense_Mutation SNP C C T TCGA-A7-A5ZV-01A-11D-A28B-09 TCGA-A7-A5ZV-10A-01D-A28E-09 g.chr15:69018290C>T c.1420C>T c.(1420-1422)Cgc>Tgc p.R474C COAD 15 68937508 68937508 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr15:68937508C>T c.25C>T c.(25-27)Cgt>Tgt p.R9C COAD 15 68937509 68937509 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr15:68937509G>A c.26G>A c.(25-27)cGt>cAt p.R9H COAD 15 68937536 68937536 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr15:68937536G>A c.53G>A c.(52-54)cGg>cAg p.R18Q COAD 15 68937660 68937660 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr15:68937660C>T c.177C>T c.(175-177)agC>agT p.S59S COAD 15 68937661 68937661 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr15:68937661G>A c.178G>A c.(178-180)Gca>Aca p.A60T COAD 15 68937682 68937682 + Missense_Mutation SNP G G A TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr15:68937682G>A c.199G>A c.(199-201)Gtc>Atc p.V67I COAD 15 68987577 68987577 + Silent SNP G G A TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr15:68987577G>A c.315G>A c.(313-315)tcG>tcA p.S105S COAD 15 69003075 69003075 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr15:69003075G>A c.338G>A c.(337-339)cGg>cAg p.R113Q COAD 15 69003177 69003177 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr15:69003177C>T c.440C>T c.(439-441)cCc>cTc p.P147L COAD 15 69004026 69004026 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr15:69004026G>A c.629G>A c.(628-630)cGc>cAc p.R210H COAD 15 69006341 69006341 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:69006341C>A c.726C>A c.(724-726)gtC>gtA p.V242V COAD 15 69006921 69006921 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr15:69006921C>T c.789C>T c.(787-789)atC>atT p.I263I COAD 15 69006921 69006921 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:69006921C>T c.789C>T c.(787-789)atC>atT p.I263I COAD 15 69006921 69006921 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr15:69006921C>T c.789C>T c.(787-789)atC>atT p.I263I COAD 15 69006963 69006963 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr15:69006963C>A c.831C>A c.(829-831)ttC>ttA p.F277L COAD 15 69011039 69011039 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:69011039G>A c.970G>A c.(970-972)Gtc>Atc p.V324I COAD 15 69011767 69011767 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr15:69011767C>A c.1187C>A c.(1186-1188)tCt>tAt p.S396Y COADREAD 15 68937508 68937508 + Missense_Mutation SNP C C T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr15:68937508C>T c.25C>T c.(25-27)Cgt>Tgt p.R9C COADREAD 15 68937509 68937509 + Missense_Mutation SNP G G A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr15:68937509G>A c.26G>A c.(25-27)cGt>cAt p.R9H COADREAD 15 68937536 68937536 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr15:68937536G>A c.53G>A c.(52-54)cGg>cAg p.R18Q COADREAD 15 68937660 68937660 + Silent SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr15:68937660C>T c.177C>T c.(175-177)agC>agT p.S59S COADREAD 15 68937661 68937661 + Missense_Mutation SNP G G A TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr15:68937661G>A c.178G>A c.(178-180)Gca>Aca p.A60T COADREAD 15 68937682 68937682 + Missense_Mutation SNP G G A TCGA-AY-4071-01A-01W-1073-09 TCGA-AY-4071-10A-01W-1073-09 g.chr15:68937682G>A c.199G>A c.(199-201)Gtc>Atc p.V67I COADREAD 15 68987577 68987577 + Silent SNP G G A TCGA-AA-A00L-01A-01W-A005-10 TCGA-AA-A00L-10A-01W-A005-10 g.chr15:68987577G>A c.315G>A c.(313-315)tcG>tcA p.S105S COADREAD 15 69003075 69003075 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr15:69003075G>A c.338G>A c.(337-339)cGg>cAg p.R113Q COADREAD 15 69003177 69003177 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr15:69003177C>T c.440C>T c.(439-441)cCc>cTc p.P147L COADREAD 15 69004026 69004026 + Missense_Mutation SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr15:69004026G>A c.629G>A c.(628-630)cGc>cAc p.R210H COADREAD 15 69006341 69006341 + Silent SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:69006341C>A c.726C>A c.(724-726)gtC>gtA p.V242V COADREAD 15 69006921 69006921 + Silent SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr15:69006921C>T c.789C>T c.(787-789)atC>atT p.I263I COADREAD 15 69006921 69006921 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:69006921C>T c.789C>T c.(787-789)atC>atT p.I263I COADREAD 15 69006921 69006921 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr15:69006921C>T c.789C>T c.(787-789)atC>atT p.I263I COADREAD 15 69006963 69006963 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr15:69006963C>A c.831C>A c.(829-831)ttC>ttA p.F277L COADREAD 15 69011039 69011039 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr15:69011039G>A c.970G>A c.(970-972)Gtc>Atc p.V324I COADREAD 15 69011767 69011767 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr15:69011767C>A c.1187C>A c.(1186-1188)tCt>tAt p.S396Y COADREAD 15 69011767 69011767 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr15:69011767C>A c.1187C>A c.(1186-1188)tCt>tAt p.S396Y ESCA 15 68987554 68987554 + Missense_Mutation SNP T T A TCGA-LN-A4MR-01A-11D-A28B-09 TCGA-LN-A4MR-10A-01D-A28E-09 g.chr15:68987554T>A c.292T>A c.(292-294)Ttc>Atc p.F98I ESCA 15 69003150 69003150 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr15:69003150G>A c.413G>A c.(412-414)cGg>cAg p.R138Q ESCA 15 69011786 69011786 + Missense_Mutation SNP G G T TCGA-L5-A4OH-01A-11D-A27G-09 TCGA-L5-A4OH-11A-11D-A27G-09 g.chr15:69011786G>T c.1206G>T c.(1204-1206)aaG>aaT p.K402N GBMLGG 15 69003117 69003117 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:69003117C>T c.380C>T c.(379-381)aCg>aTg p.T127M HNSC 15 69003107 69003107 + Missense_Mutation SNP C C T TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr15:69003107C>T c.370C>T c.(370-372)Cgg>Tgg p.R124W HNSC 15 69003203 69003203 + Missense_Mutation SNP G G A TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chr15:69003203G>A c.466G>A c.(466-468)Gct>Act p.A156T HNSC 15 69003203 69003203 + Missense_Mutation SNP G G A TCGA-CV-7423-01A-11D-2078-08 TCGA-CV-7423-10A-01D-2078-08 g.chr15:69003203G>A c.466G>A c.(466-468)Gct>Act p.A156T HNSC 15 69006964 69006964 + Missense_Mutation SNP T T C TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr15:69006964T>C c.832T>C c.(832-834)Tat>Cat p.Y278H HNSC 15 69011053 69011053 + Silent SNP C C T TCGA-CN-5361-01A-01D-1434-08 TCGA-CN-5361-10A-01D-1434-08 g.chr15:69011053C>T c.984C>T c.(982-984)caC>caT p.H328H KIPAN 15 69003112 69003112 + Silent SNP C C T TCGA-CZ-5453-01A-01D-1501-10 TCGA-CZ-5453-11A-01D-1501-10 g.chr15:69003112C>T c.375C>T c.(373-375)aaC>aaT p.N125N KIPAN 15 69003120 69003120 + Missense_Mutation SNP A A T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr15:69003120A>T c.383A>T c.(382-384)gAg>gTg p.E128V KIPAN 15 69006276 69006276 + Frame_Shift_Del DEL A A - TCGA-B0-5116-01A-02D-1421-08 TCGA-B0-5116-11A-01D-1421-08 g.chr15:69006276delA c.661delA c.(661-663)aaafs p.K221fs KIPAN 15 69011755 69011755 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr15:69011755C>T c.1175C>T c.(1174-1176)cCc>cTc p.P392L KIRC 15 69003112 69003112 + Silent SNP C C T TCGA-CZ-5453-01A-01D-1501-10 TCGA-CZ-5453-11A-01D-1501-10 g.chr15:69003112C>T c.375C>T c.(373-375)aaC>aaT p.N125N KIRC 15 69006276 69006276 + Frame_Shift_Del DEL A A - TCGA-B0-5116-01A-02D-1421-08 TCGA-B0-5116-11A-01D-1421-08 g.chr15:69006276delA c.661delA c.(661-663)aaafs p.K221fs KIRC 15 69011755 69011755 + Missense_Mutation SNP C C T TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr15:69011755C>T c.1175C>T c.(1174-1176)cCc>cTc p.P392L KIRP 15 69003120 69003120 + Missense_Mutation SNP A A T TCGA-SX-A7SP-01A-11D-A34Z-10 TCGA-SX-A7SP-10A-01D-A34Z-10 g.chr15:69003120A>T c.383A>T c.(382-384)gAg>gTg p.E128V LGG 15 69003117 69003117 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr15:69003117C>T c.380C>T c.(379-381)aCg>aTg p.T127M LIHC 15 69006317 69006317 + Missense_Mutation SNP G G T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr15:69006317G>T c.702G>T c.(700-702)atG>atT p.M234I LIHC 15 69011111 69011111 + Missense_Mutation SNP G G T TCGA-PD-A5DF-01A-11D-A27I-10 TCGA-PD-A5DF-10A-01D-A27I-10 g.chr15:69011111G>T c.1042G>T c.(1042-1044)Ggc>Tgc p.G348C LIHC 15 69011783 69011783 + Silent SNP T T C TCGA-5R-AA1C-01A-11D-A40R-10 TCGA-5R-AA1C-10A-01D-A40U-10 g.chr15:69011783T>C c.1203T>C c.(1201-1203)taT>taC p.Y401Y LUAD 15 69003979 69003979 + Silent SNP G G T TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr15:69003979G>T c.582G>T c.(580-582)ctG>ctT p.L194L LUAD 15 69003991 69003991 + Silent SNP G G T TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr15:69003991G>T c.594G>T c.(592-594)acG>acT p.T198T LUAD 15 69006317 69006317 + Missense_Mutation SNP G G T TCGA-91-6831-01A-11D-1855-08 TCGA-91-6831-11A-02D-1855-08 g.chr15:69006317G>T c.702G>T c.(700-702)atG>atT p.M234I LUAD 15 69006979 69006979 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr15:69006979C>A c.847C>A c.(847-849)Cac>Aac p.H283N LUAD 15 69007578 69007578 + Missense_Mutation SNP G G A TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr15:69007578G>A c.895G>A c.(895-897)Gag>Aag p.E299K LUAD 15 69011535 69011535 + Missense_Mutation SNP C C A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr15:69011535C>A c.1133C>A c.(1132-1134)gCa>gAa p.A378E LUAD 15 69011757 69011757 + Missense_Mutation SNP G G T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr15:69011757G>T c.1177G>T c.(1177-1179)Gtg>Ttg p.V393L LUAD 15 69011847 69011847 + Missense_Mutation SNP G G A TCGA-95-A4VK-01A-11D-A25L-08 TCGA-95-A4VK-10A-01D-A25L-08 g.chr15:69011847G>A c.1267G>A c.(1267-1269)Gga>Aga p.G423R LUAD 15 69018214 69018214 + Missense_Mutation SNP G G C TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chr15:69018214G>C c.1344G>C c.(1342-1344)gaG>gaC p.E448D LUSC 15 69011060 69011060 + Missense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr15:69011060G>T c.991G>T c.(991-993)Gat>Tat p.D331Y LUSC 15 69011811 69011811 + Missense_Mutation SNP G G T TCGA-33-4586-01A-01D-1441-08 TCGA-33-4586-11A-01D-1441-08 g.chr15:69011811G>T c.1231G>T c.(1231-1233)Gct>Tct p.A411S LUSC 15 69018240 69018240 + Missense_Mutation SNP C C G TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr15:69018240C>G c.1370C>G c.(1369-1371)gCc>gGc p.A457G OV 15 69003075 69003075 + Missense_Mutation SNP G G A TCGA-13-1499-01A-01W-0549-09 TCGA-13-1499-10A-01W-0549-09 g.chr15:69003075G>A c.338G>A c.(337-339)cGg>cAg p.R113Q OV 15 69011074 69011074 + Missense_Mutation SNP C C G TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 g.chr15:69011074C>G c.1005C>G c.(1003-1005)tgC>tgG p.C335W OV 15 69011494 69011494 + Nonsense_Mutation SNP C C A TCGA-13-0900-01B-01W-0490-10 TCGA-13-0900-10A-01W-0490-10 g.chr15:69011494C>A c.1092C>A c.(1090-1092)taC>taA p.Y364* OV 15 69018290 69018290 + Missense_Mutation SNP C C T TCGA-29-1699-01A-01W-0633-09 TCGA-29-1699-10A-01W-0633-09 g.chr15:69018290C>T c.1420C>T c.(1420-1422)Cgc>Tgc p.R474C PAAD 15 68937536 68937536 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr15:68937536G>A c.53G>A c.(52-54)cGg>cAg p.R18Q PAAD 15 69006382 69006382 + Splice_Site SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr15:69006382T>C c.e6+2 PRAD 15 68937526 68937541 + Frame_Shift_Del DEL TCCAAGTTCCGGAATG TCCAAGTTCCGGAATG - TCGA-2A-AAYF-01A-11D-A41K-08 TCGA-2A-AAYF-10A-01D-A41N-08 g.chr15:68937526_68937541delTCCAAGTTCCGGAATG c.43_58delTCCAAGTTCCGGAATG c.(43-60)tccaagttccggaatgtcfs p.SKFRNV15fs PRAD 15 69011503 69011503 + Missense_Mutation SNP C C G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 g.chr15:69011503C>G c.1101C>G c.(1099-1101)gaC>gaG p.D367E READ 15 69011767 69011767 + Missense_Mutation SNP C C A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr15:69011767C>A c.1187C>A c.(1186-1188)tCt>tAt p.S396Y SKCM 15 68987482 68987482 + Missense_Mutation SNP G G A TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr15:68987482G>A c.220G>A c.(220-222)Ggc>Agc p.G74S SKCM 15 68987559 68987559 + Silent SNP C C T TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr15:68987559C>T c.297C>T c.(295-297)atC>atT p.I99I SKCM 15 68987586 68987586 + Silent SNP G G A TCGA-EE-A20F-06A-21D-A196-08 TCGA-EE-A20F-10A-01D-A198-08 g.chr15:68987586G>A c.324G>A c.(322-324)gaG>gaA p.E108E SKCM 15 69006963 69006963 + Silent SNP C C T TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr15:69006963C>T c.831C>T c.(829-831)ttC>ttT p.F277F SKCM 15 69007569 69007569 + Missense_Mutation SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr15:69007569C>T c.886C>T c.(886-888)Cgg>Tgg p.R296W SKCM 15 69007647 69007647 + Silent SNP C C T TCGA-EE-A2MN-06A-11D-A197-08 TCGA-EE-A2MN-10A-01D-A199-08 g.chr15:69007647C>T c.964C>T c.(964-966)Cta>Tta p.L322L SKCM 15 69011130 69011130 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr15:69011130C>T c.1061C>T c.(1060-1062)tCc>tTc p.S354F SKCM 15 69011843 69011843 + Silent SNP C C T TCGA-EE-A2MU-06A-21D-A196-08 TCGA-EE-A2MU-10A-01D-A198-08 g.chr15:69011843C>T c.1263C>T c.(1261-1263)gtC>gtT p.V421V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 15 69003150 69003150 single base substitution G A missense_variant R133Q 398G>A BLCA-CN 15 69003150 69003150 single base substitution G A missense_variant R138Q 413G>A BLCA-US 15 68987486 68987486 single base substitution G A missense_variant R70K 209G>A BLCA-US 15 68987486 68987486 single base substitution G A missense_variant R75K 224G>A BLCA-US 15 69003924 69003924 single base substitution T C missense_variant I171T 512T>C BLCA-US 15 69003924 69003924 single base substitution T C missense_variant I176T 527T>C BLCA-US 15 69018260 69018260 single base substitution C T missense_variant R459W 1375C>T BLCA-US 15 69018260 69018260 single base substitution C T missense_variant R464W 1390C>T BOCA-FR 15 68874849 68874849 single base substitution C T intron_variant BOCA-FR 15 68985625 68985625 single base substitution G C intron_variant BOCA-FR 15 69008053 69008053 single base substitution G T intron_variant BRCA-EU 15 68866810 68866810 single base substitution C G upstream_gene_variant BRCA-EU 15 68867174 68867174 single base substitution G C upstream_gene_variant BRCA-EU 15 68867830 68867830 single base substitution C T upstream_gene_variant BRCA-EU 15 68868036 68868036 single base substitution C A upstream_gene_variant BRCA-EU 15 68868984 68868984 single base substitution G T upstream_gene_variant BRCA-EU 15 68869955 68869955 single base substitution G A upstream_gene_variant BRCA-EU 15 68870536 68870536 single base substitution C A upstream_gene_variant BRCA-EU 15 68871047 68871047 single base substitution C A upstream_gene_variant BRCA-EU 15 68874051 68874051 single base substitution T G intron_variant BRCA-EU 15 68874214 68874214 single base substitution G T intron_variant BRCA-EU 15 68876374 68876374 single base substitution T G intron_variant BRCA-EU 15 68877484 68877484 single base substitution A G intron_variant BRCA-EU 15 68879194 68879194 single base substitution G A intron_variant BRCA-EU 15 68879788 68879788 single base substitution G T intron_variant BRCA-EU 15 68880589 68880589 single base substitution A G intron_variant BRCA-EU 15 68881076 68881076 single base substitution A T intron_variant BRCA-EU 15 68882730 68882730 single base substitution C T intron_variant BRCA-EU 15 68882887 68882887 single base substitution C G intron_variant BRCA-EU 15 68883237 68883241 deletion of <=200bp CTGTT - intron_variant BRCA-EU 15 68883650 68883650 single base substitution G C intron_variant BRCA-EU 15 68883676 68883676 single base substitution G C intron_variant BRCA-EU 15 68883886 68883886 single base substitution T C intron_variant BRCA-EU 15 68884515 68884515 single base substitution G A intron_variant BRCA-EU 15 68887320 68887320 single base substitution A T intron_variant BRCA-EU 15 68889723 68889723 single base substitution T A intron_variant BRCA-EU 15 68891320 68891320 single base substitution A C intron_variant BRCA-EU 15 68892234 68892234 single base substitution G T intron_variant BRCA-EU 15 68894645 68894645 deletion of <=200bp T - intron_variant BRCA-EU 15 68895014 68895014 deletion of <=200bp C - intron_variant BRCA-EU 15 68895377 68895377 single base substitution C T intron_variant BRCA-EU 15 68895943 68895943 single base substitution G A intron_variant BRCA-EU 15 68896667 68896667 deletion of <=200bp C - intron_variant BRCA-EU 15 68896763 68896763 single base substitution G T intron_variant BRCA-EU 15 68896861 68896861 single base substitution C T intron_variant BRCA-EU 15 68897906 68897906 single base substitution A T intron_variant BRCA-EU 15 68898272 68898272 single base substitution T A intron_variant BRCA-EU 15 68900519 68900519 insertion of <=200bp - G intron_variant BRCA-EU 15 68900707 68900707 single base substitution C G intron_variant BRCA-EU 15 68901243 68901243 single base substitution A T intron_variant BRCA-EU 15 68902121 68902121 single base substitution C T intron_variant BRCA-EU 15 68902413 68902413 single base substitution C G intron_variant BRCA-EU 15 68903668 68903668 single base substitution A T intron_variant BRCA-EU 15 68903739 68903739 deletion of <=200bp T - intron_variant BRCA-EU 15 68904723 68904723 single base substitution G A intron_variant BRCA-EU 15 68904723 68904723 single base substitution G A upstream_gene_variant BRCA-EU 15 68905038 68905038 single base substitution G C intron_variant BRCA-EU 15 68905038 68905038 single base substitution G C upstream_gene_variant BRCA-EU 15 68907087 68907087 single base substitution G C intron_variant BRCA-EU 15 68907087 68907087 single base substitution G C upstream_gene_variant BRCA-EU 15 68907499 68907499 single base substitution C T intron_variant BRCA-EU 15 68907499 68907499 single base substitution C T upstream_gene_variant BRCA-EU 15 68908750 68908750 single base substitution T A intron_variant BRCA-EU 15 68908750 68908750 single base substitution T A upstream_gene_variant BRCA-EU 15 68909262 68909262 single base substitution G T intron_variant BRCA-EU 15 68909983 68909983 single base substitution C T intron_variant BRCA-EU 15 68910473 68910474 deletion of <=200bp AC - intron_variant BRCA-EU 15 68910969 68910969 deletion of <=200bp T - intron_variant BRCA-EU 15 68911272 68911272 single base substitution G A intron_variant BRCA-EU 15 68912180 68912180 single base substitution C G intron_variant BRCA-EU 15 68912838 68912838 single base substitution T C intron_variant BRCA-EU 15 68914301 68914301 single base substitution C T intron_variant BRCA-EU 15 68914374 68914374 single base substitution C G intron_variant BRCA-EU 15 68915455 68915479 deletion of <=200bp GATCACGCTACTGCACTCCAGCCTG - intron_variant BRCA-EU 15 68915530 68915530 deletion of <=200bp A - intron_variant BRCA-EU 15 68917162 68917162 single base substitution C T intron_variant BRCA-EU 15 68917626 68917626 single base substitution G A intron_variant BRCA-EU 15 68917704 68917704 single base substitution A C intron_variant BRCA-EU 15 68918088 68918088 single base substitution T A intron_variant BRCA-EU 15 68918827 68918827 single base substitution C G intron_variant BRCA-EU 15 68918896 68918896 single base substitution G A intron_variant BRCA-EU 15 68919096 68919096 single base substitution A C intron_variant BRCA-EU 15 68920002 68920002 single base substitution G A intron_variant BRCA-EU 15 68920002 68920002 single base substitution G A upstream_gene_variant BRCA-EU 15 68922101 68922101 single base substitution G A intron_variant BRCA-EU 15 68922101 68922101 single base substitution G A upstream_gene_variant BRCA-EU 15 68922439 68922439 single base substitution C G intron_variant BRCA-EU 15 68922439 68922439 single base substitution C G upstream_gene_variant BRCA-EU 15 68923360 68923360 single base substitution C G intron_variant BRCA-EU 15 68923360 68923360 single base substitution C G upstream_gene_variant BRCA-EU 15 68924012 68924012 single base substitution C G intron_variant BRCA-EU 15 68924012 68924012 single base substitution C G upstream_gene_variant BRCA-EU 15 68924239 68924239 single base substitution C T intron_variant BRCA-EU 15 68924239 68924239 single base substitution C T upstream_gene_variant BRCA-EU 15 68924247 68924247 single base substitution A G intron_variant BRCA-EU 15 68924247 68924247 single base substitution A G upstream_gene_variant BRCA-EU 15 68925003 68925003 single base substitution C T intron_variant BRCA-EU 15 68925011 68925011 single base substitution C A intron_variant BRCA-EU 15 68927731 68927731 single base substitution A G intron_variant BRCA-EU 15 68928149 68928149 single base substitution C G intron_variant BRCA-EU 15 68928339 68928339 single base substitution G A intron_variant BRCA-EU 15 68929638 68929638 single base substitution C A intron_variant BRCA-EU 15 68932292 68932292 single base substitution T C intron_variant BRCA-EU 15 68936796 68936796 single base substitution T G intron_variant BRCA-EU 15 68937576 68937576 single base substitution C T synonymous_variant F26F 78C>T BRCA-EU 15 68937576 68937576 single base substitution C T synonymous_variant F31F 93C>T BRCA-EU 15 68938336 68938336 single base substitution A C intron_variant BRCA-EU 15 68938376 68938376 single base substitution G C intron_variant BRCA-EU 15 68939340 68939340 single base substitution G A intron_variant BRCA-EU 15 68939378 68939378 single base substitution C A intron_variant BRCA-EU 15 68939766 68939766 single base substitution C T intron_variant BRCA-EU 15 68939862 68939862 single base substitution C T intron_variant BRCA-EU 15 68941212 68941212 single base substitution G C intron_variant BRCA-EU 15 68941255 68941255 single base substitution C G intron_variant BRCA-EU 15 68941560 68941560 single base substitution G T intron_variant BRCA-EU 15 68943036 68943036 single base substitution G T intron_variant BRCA-EU 15 68944540 68944540 single base substitution G A intron_variant BRCA-EU 15 68944560 68944560 single base substitution G A intron_variant BRCA-EU 15 68944878 68944878 single base substitution G T intron_variant BRCA-EU 15 68946021 68946021 single base substitution T A intron_variant BRCA-EU 15 68947926 68947926 single base substitution T G intron_variant BRCA-EU 15 68948122 68948122 deletion of <=200bp C - intron_variant BRCA-EU 15 68950120 68950120 single base substitution A G intron_variant BRCA-EU 15 68950309 68950309 single base substitution G A intron_variant BRCA-EU 15 68950839 68950839 single base substitution A G intron_variant BRCA-EU 15 68950918 68950918 single base substitution G T intron_variant BRCA-EU 15 68952804 68952804 single base substitution G T intron_variant BRCA-EU 15 68952949 68952949 single base substitution A G intron_variant BRCA-EU 15 68953385 68953385 single base substitution C A intron_variant BRCA-EU 15 68956682 68956682 single base substitution C A intron_variant BRCA-EU 15 68956887 68956887 single base substitution G A intron_variant BRCA-EU 15 68957126 68957126 single base substitution C T intron_variant BRCA-EU 15 68959232 68959232 single base substitution C T intron_variant BRCA-EU 15 68959520 68959520 single base substitution C G intron_variant BRCA-EU 15 68959685 68959685 single base substitution C T intron_variant BRCA-EU 15 68960360 68960360 single base substitution C G intron_variant BRCA-EU 15 68963291 68963291 single base substitution A G intron_variant BRCA-EU 15 68963533 68963533 single base substitution G T intron_variant BRCA-EU 15 68965877 68965877 single base substitution A T intron_variant BRCA-EU 15 68966367 68966367 single base substitution G A intron_variant BRCA-EU 15 68968433 68968433 single base substitution C T intron_variant BRCA-EU 15 68969901 68969901 single base substitution G C intron_variant BRCA-EU 15 68970029 68970029 single base substitution C T intron_variant BRCA-EU 15 68970533 68970533 single base substitution G A intron_variant BRCA-EU 15 68972246 68972246 single base substitution C G intron_variant BRCA-EU 15 68973507 68973507 single base substitution G A intron_variant BRCA-EU 15 68973876 68973876 single base substitution A G intron_variant BRCA-EU 15 68974100 68974100 single base substitution G A intron_variant BRCA-EU 15 68974312 68974312 single base substitution C T intron_variant BRCA-EU 15 68974675 68974675 single base substitution C G intron_variant BRCA-EU 15 68977237 68977237 insertion of <=200bp - CT intron_variant BRCA-EU 15 68979507 68979507 single base substitution G C intron_variant BRCA-EU 15 68980041 68980041 single base substitution C T intron_variant BRCA-EU 15 68980505 68980505 single base substitution C T intron_variant BRCA-EU 15 68980790 68980790 single base substitution T C intron_variant BRCA-EU 15 68984126 68984126 single base substitution G C intron_variant BRCA-EU 15 68984162 68984162 single base substitution C G intron_variant BRCA-EU 15 68985601 68985601 single base substitution G A intron_variant BRCA-EU 15 68985799 68985799 single base substitution G A intron_variant BRCA-EU 15 68986791 68986791 single base substitution A T intron_variant BRCA-EU 15 68988325 68988325 single base substitution C G intron_variant BRCA-EU 15 68988842 68988842 single base substitution C A intron_variant BRCA-EU 15 68990101 68990101 single base substitution G A intron_variant BRCA-EU 15 68990465 68990465 single base substitution G T intron_variant BRCA-EU 15 68991920 68991920 single base substitution C G intron_variant BRCA-EU 15 68992390 68992390 insertion of <=200bp - AC intron_variant BRCA-EU 15 68994772 68994772 single base substitution G A intron_variant BRCA-EU 15 68994847 68994847 single base substitution G C intron_variant BRCA-EU 15 68996271 68996271 single base substitution G A intron_variant BRCA-EU 15 68996684 68996684 single base substitution C T intron_variant BRCA-EU 15 68996933 68996933 single base substitution T G intron_variant BRCA-EU 15 68997370 68997370 single base substitution C G intron_variant BRCA-EU 15 68999530 68999530 single base substitution C G intron_variant BRCA-EU 15 69002466 69002466 single base substitution G A intron_variant BRCA-EU 15 69003787 69003787 single base substitution C T intron_variant BRCA-EU 15 69005640 69005640 single base substitution C T intron_variant BRCA-EU 15 69006853 69006853 single base substitution G T intron_variant BRCA-EU 15 69007637 69007637 single base substitution G A synonymous_variant P313P 939G>A BRCA-EU 15 69007637 69007637 single base substitution G A synonymous_variant P318P 954G>A BRCA-EU 15 69009387 69009387 single base substitution A G intron_variant BRCA-EU 15 69010215 69010215 single base substitution G A intron_variant BRCA-EU 15 69010299 69010299 single base substitution A T intron_variant BRCA-EU 15 69010608 69010608 single base substitution C G intron_variant BRCA-EU 15 69010608 69010608 single base substitution C T intron_variant BRCA-EU 15 69010992 69010992 single base substitution C T intron_variant BRCA-EU 15 69011629 69011629 single base substitution G A intron_variant BRCA-EU 15 69012225 69012225 single base substitution C T intron_variant BRCA-EU 15 69013354 69013354 single base substitution G T intron_variant BRCA-EU 15 69014179 69014179 single base substitution G A intron_variant BRCA-EU 15 69016021 69016021 single base substitution G C intron_variant BRCA-EU 15 69016136 69016136 single base substitution C T intron_variant BRCA-EU 15 69021358 69021358 single base substitution G T downstream_gene_variant BRCA-EU 15 69021365 69021365 single base substitution T A downstream_gene_variant BRCA-EU 15 69021999 69021999 single base substitution G C downstream_gene_variant BRCA-EU 15 69022044 69022044 single base substitution G A downstream_gene_variant BRCA-EU 15 69022413 69022413 single base substitution C A downstream_gene_variant BRCA-EU 15 69022418 69022418 single base substitution G C downstream_gene_variant BRCA-FR 15 68867830 68867830 single base substitution C T upstream_gene_variant BRCA-FR 15 68879788 68879788 single base substitution G T intron_variant BRCA-FR 15 68882730 68882730 single base substitution C T intron_variant BRCA-FR 15 68882887 68882887 single base substitution C G intron_variant BRCA-FR 15 68892234 68892234 single base substitution G T intron_variant BRCA-FR 15 68903668 68903668 single base substitution A T intron_variant BRCA-FR 15 68912838 68912838 single base substitution T C intron_variant BRCA-FR 15 68914301 68914301 single base substitution C T intron_variant BRCA-FR 15 68919096 68919096 single base substitution A C intron_variant BRCA-FR 15 68922101 68922101 single base substitution G A intron_variant BRCA-FR 15 68922101 68922101 single base substitution G A upstream_gene_variant BRCA-FR 15 68931562 68931562 single base substitution G C intron_variant BRCA-FR 15 68937473 68937473 single base substitution C A intron_variant BRCA-FR 15 68939340 68939340 single base substitution G A intron_variant BRCA-FR 15 68942900 68942900 single base substitution G A intron_variant BRCA-FR 15 68949618 68949618 single base substitution G A intron_variant BRCA-FR 15 68951072 68951072 single base substitution G A intron_variant BRCA-FR 15 68952676 68952676 single base substitution C T intron_variant BRCA-FR 15 68956887 68956887 single base substitution G A intron_variant BRCA-FR 15 68963533 68963533 single base substitution G T intron_variant BRCA-FR 15 68973876 68973876 single base substitution A G intron_variant BRCA-FR 15 68996578 68996578 single base substitution G C intron_variant BRCA-FR 15 69007043 69007043 single base substitution G A intron_variant BRCA-FR 15 69010608 69010608 single base substitution C T intron_variant BRCA-FR 15 69016136 69016136 single base substitution C T intron_variant BRCA-KR 15 69006962 69006962 single base substitution T A missense_variant F272Y 815T>A BRCA-KR 15 69006962 69006962 single base substitution T A missense_variant F277Y 830T>A BRCA-UK 15 68869955 68869955 single base substitution G A upstream_gene_variant BRCA-UK 15 68874051 68874051 single base substitution T G intron_variant BRCA-UK 15 68897906 68897906 single base substitution A T intron_variant BRCA-UK 15 68944878 68944878 single base substitution G T intron_variant BRCA-UK 15 68953548 68953548 single base substitution C G intron_variant BRCA-UK 15 68963291 68963291 single base substitution A G intron_variant BRCA-UK 15 68972246 68972246 single base substitution C G intron_variant BRCA-UK 15 68990254 68990254 single base substitution G A intron_variant BRCA-US 15 69003905 69003905 single base substitution G T missense_variant G165C 493G>T BRCA-US 15 69003905 69003905 single base substitution G T missense_variant G170C 508G>T BRCA-US 15 69003908 69003908 single base substitution G A missense_variant E166K 496G>A BRCA-US 15 69003908 69003908 single base substitution G A missense_variant E171K 511G>A BRCA-US 15 69004035 69004035 single base substitution G A missense_variant R208H 623G>A BRCA-US 15 69004035 69004035 single base substitution G A missense_variant R213H 638G>A BRCA-US 15 69018290 69018290 single base substitution C T missense_variant R469C 1405C>T BRCA-US 15 69018290 69018290 single base substitution C T missense_variant R474C 1420C>T BTCA-JP 15 68937643 68937643 single base substitution G A missense_variant A49T 145G>A BTCA-JP 15 68937643 68937643 single base substitution G A missense_variant A54T 160G>A BTCA-JP 15 68937671 68937671 single base substitution G A missense_variant G58D 173G>A BTCA-JP 15 68937671 68937671 single base substitution G A missense_variant G63D 188G>A BTCA-JP 15 69004077 69004077 single base substitution G A intron_variant BTCA-JP 15 69018327 69018327 single base substitution C T 3_prime_UTR_variant CLLE-ES 15 68898354 68898354 single base substitution C T intron_variant CLLE-ES 15 68906876 68906876 single base substitution A G intron_variant CLLE-ES 15 68906876 68906876 single base substitution A G upstream_gene_variant CLLE-ES 15 68912399 68912399 single base substitution C T intron_variant CLLE-ES 15 68942746 68942746 single base substitution T A intron_variant CLLE-ES 15 68956331 68956331 single base substitution T A intron_variant CLLE-ES 15 68968818 68968818 single base substitution G A intron_variant CLLE-ES 15 68978955 68978955 single base substitution C T intron_variant CLLE-ES 15 68980366 68980366 single base substitution A G intron_variant CLLE-ES 15 68995201 68995201 single base substitution T A intron_variant CLLE-ES 15 68999579 68999579 single base substitution T G intron_variant CLLE-ES 15 69019394 69019394 single base substitution C A 3_prime_UTR_variant COAD-US 15 68937660 68937660 single base substitution C T synonymous_variant S54S 162C>T COAD-US 15 68937660 68937660 single base substitution C T synonymous_variant S59S 177C>T COAD-US 15 68937661 68937661 single base substitution G A missense_variant A55T 163G>A COAD-US 15 68937661 68937661 single base substitution G A missense_variant A60T 178G>A COAD-US 15 69004026 69004026 single base substitution G A missense_variant R205H 614G>A COAD-US 15 69004026 69004026 single base substitution G A missense_variant R210H 629G>A COAD-US 15 69006921 69006921 single base substitution C T synonymous_variant I258I 774C>T COAD-US 15 69006921 69006921 single base substitution C T synonymous_variant I263I 789C>T COAD-US 15 69006963 69006963 single base substitution C A missense_variant F272L 816C>A COAD-US 15 69006963 69006963 single base substitution C A missense_variant F277L 831C>A COAD-US 15 69011767 69011767 single base substitution C A missense_variant S391Y 1172C>A COAD-US 15 69011767 69011767 single base substitution C A missense_variant S396Y 1187C>A COCA-CN 15 68937592 68937592 single base substitution A G missense_variant T32A 94A>G COCA-CN 15 68937592 68937592 single base substitution A G missense_variant T37A 109A>G COCA-CN 15 68937660 68937660 single base substitution C T synonymous_variant S54S 162C>T COCA-CN 15 68937660 68937660 single base substitution C T synonymous_variant S59S 177C>T COCA-CN 15 68942745 68942745 single base substitution A T intron_variant COCA-CN 15 68987576 68987576 single base substitution C T missense_variant S100L 299C>T COCA-CN 15 68987576 68987576 single base substitution C T missense_variant S105L 314C>T COCA-CN 15 69003117 69003117 single base substitution C T missense_variant T122M 365C>T COCA-CN 15 69003117 69003117 single base substitution C T missense_variant T127M 380C>T COCA-CN 15 69003141 69003141 single base substitution G T missense_variant G130V 389G>T COCA-CN 15 69003141 69003141 single base substitution G T missense_variant G135V 404G>T COCA-CN 15 69003211 69003211 single base substitution C T synonymous_variant Y153Y 459C>T COCA-CN 15 69003211 69003211 single base substitution C T synonymous_variant Y158Y 474C>T COCA-CN 15 69006332 69006332 single base substitution G A synonymous_variant T234T 702G>A COCA-CN 15 69006332 69006332 single base substitution G A synonymous_variant T239T 717G>A COCA-CN 15 69007024 69007024 single base substitution C T intron_variant COCA-CN 15 69007547 69007547 single base substitution A G splice_region_variant COCA-CN 15 69007578 69007578 single base substitution G A missense_variant E294K 880G>A COCA-CN 15 69007578 69007578 single base substitution G A missense_variant E299K 895G>A COCA-CN 15 69010812 69010812 single base substitution C T intron_variant COCA-CN 15 69011437 69011437 single base substitution C T intron_variant EOPC-DE 15 68896352 68896352 single base substitution C T intron_variant EOPC-DE 15 68901169 68901169 single base substitution C T intron_variant EOPC-DE 15 68913852 68913852 single base substitution G T intron_variant EOPC-DE 15 68929350 68929350 single base substitution G C intron_variant EOPC-DE 15 69010922 69010922 single base substitution G T intron_variant ESAD-UK 15 68875401 68875401 single base substitution C T intron_variant ESAD-UK 15 68875606 68875606 single base substitution G A intron_variant ESAD-UK 15 68875713 68875713 single base substitution A C intron_variant ESAD-UK 15 68875774 68875774 single base substitution G A intron_variant ESAD-UK 15 68876341 68876341 single base substitution C T intron_variant ESAD-UK 15 68876797 68876797 single base substitution A C intron_variant ESAD-UK 15 68877507 68877507 single base substitution C T intron_variant ESAD-UK 15 68878439 68878439 single base substitution G A intron_variant ESAD-UK 15 68879556 68879556 single base substitution A C intron_variant ESAD-UK 15 68879557 68879557 single base substitution C A intron_variant ESAD-UK 15 68880054 68880054 single base substitution A T intron_variant ESAD-UK 15 68881119 68881119 single base substitution C T intron_variant ESAD-UK 15 68881901 68881901 single base substitution T A intron_variant ESAD-UK 15 68884172 68884172 single base substitution A C intron_variant ESAD-UK 15 68888151 68888151 single base substitution C T intron_variant ESAD-UK 15 68888874 68888874 single base substitution G C intron_variant ESAD-UK 15 68889972 68889972 single base substitution A T intron_variant ESAD-UK 15 68892119 68892119 single base substitution C T intron_variant ESAD-UK 15 68892161 68892161 single base substitution T C intron_variant ESAD-UK 15 68892807 68892807 single base substitution C T intron_variant ESAD-UK 15 68893967 68893967 single base substitution G C intron_variant ESAD-UK 15 68894709 68894709 single base substitution G C intron_variant ESAD-UK 15 68895676 68895676 single base substitution C T intron_variant ESAD-UK 15 68896024 68896024 single base substitution C T intron_variant ESAD-UK 15 68896387 68896387 single base substitution C G intron_variant ESAD-UK 15 68896959 68896959 single base substitution A T intron_variant ESAD-UK 15 68903021 68903021 single base substitution C T intron_variant ESAD-UK 15 68903856 68903856 single base substitution T C intron_variant ESAD-UK 15 68904520 68904520 single base substitution G T intron_variant ESAD-UK 15 68904520 68904520 single base substitution G T upstream_gene_variant ESAD-UK 15 68906026 68906026 single base substitution C A intron_variant ESAD-UK 15 68906026 68906026 single base substitution C A upstream_gene_variant ESAD-UK 15 68907767 68907767 single base substitution A C intron_variant ESAD-UK 15 68907767 68907767 single base substitution A C upstream_gene_variant ESAD-UK 15 68907876 68907876 single base substitution A C intron_variant ESAD-UK 15 68907876 68907876 single base substitution A C upstream_gene_variant ESAD-UK 15 68908074 68908074 single base substitution A G intron_variant ESAD-UK 15 68908074 68908074 single base substitution A G upstream_gene_variant ESAD-UK 15 68908337 68908337 single base substitution G A intron_variant ESAD-UK 15 68908337 68908337 single base substitution G A upstream_gene_variant ESAD-UK 15 68911659 68911659 single base substitution T C intron_variant ESAD-UK 15 68911965 68911965 single base substitution A C intron_variant ESAD-UK 15 68913662 68913662 single base substitution C T intron_variant ESAD-UK 15 68916396 68916396 single base substitution C T intron_variant ESAD-UK 15 68917254 68917254 single base substitution T G intron_variant ESAD-UK 15 68918602 68918602 single base substitution C A intron_variant ESAD-UK 15 68918979 68918979 single base substitution T C intron_variant ESAD-UK 15 68919203 68919203 single base substitution C A intron_variant ESAD-UK 15 68919439 68919439 single base substitution G A intron_variant ESAD-UK 15 68919439 68919439 single base substitution G A upstream_gene_variant ESAD-UK 15 68920030 68920030 single base substitution G T intron_variant ESAD-UK 15 68920030 68920030 single base substitution G T upstream_gene_variant ESAD-UK 15 68920436 68920436 single base substitution G T intron_variant ESAD-UK 15 68920436 68920436 single base substitution G T upstream_gene_variant ESAD-UK 15 68921753 68921753 single base substitution A G intron_variant ESAD-UK 15 68921753 68921753 single base substitution A G upstream_gene_variant ESAD-UK 15 68921961 68921961 single base substitution T C intron_variant ESAD-UK 15 68921961 68921961 single base substitution T C upstream_gene_variant ESAD-UK 15 68924746 68924746 single base substitution G A intron_variant ESAD-UK 15 68925079 68925079 single base substitution G A intron_variant ESAD-UK 15 68925760 68925760 single base substitution A T intron_variant ESAD-UK 15 68927503 68927503 single base substitution A G intron_variant ESAD-UK 15 68927593 68927593 single base substitution T G intron_variant ESAD-UK 15 68927658 68927658 single base substitution C T intron_variant ESAD-UK 15 68927753 68927753 single base substitution C T intron_variant ESAD-UK 15 68928123 68928123 single base substitution G T intron_variant ESAD-UK 15 68928446 68928446 single base substitution G T intron_variant ESAD-UK 15 68928447 68928447 single base substitution G T intron_variant ESAD-UK 15 68929932 68929932 single base substitution G A intron_variant ESAD-UK 15 68933486 68933486 single base substitution G T intron_variant ESAD-UK 15 68933539 68933539 single base substitution G C intron_variant ESAD-UK 15 68936100 68936100 single base substitution G A intron_variant ESAD-UK 15 68936601 68936601 single base substitution T C intron_variant ESAD-UK 15 68936747 68936747 single base substitution C T intron_variant ESAD-UK 15 68938445 68938445 single base substitution G A intron_variant ESAD-UK 15 68938943 68938943 single base substitution G A intron_variant ESAD-UK 15 68939337 68939337 single base substitution A G intron_variant ESAD-UK 15 68942162 68942162 single base substitution G T intron_variant ESAD-UK 15 68942275 68942275 single base substitution T G intron_variant ESAD-UK 15 68944710 68944710 single base substitution C T intron_variant ESAD-UK 15 68944794 68944794 single base substitution C G intron_variant ESAD-UK 15 68945637 68945637 single base substitution A C intron_variant ESAD-UK 15 68945888 68945888 single base substitution C G intron_variant ESAD-UK 15 68948098 68948098 single base substitution G C intron_variant ESAD-UK 15 68950080 68950080 single base substitution A C intron_variant ESAD-UK 15 68950223 68950223 single base substitution T C intron_variant ESAD-UK 15 68952331 68952331 single base substitution C T intron_variant ESAD-UK 15 68953524 68953524 single base substitution C T intron_variant ESAD-UK 15 68954607 68954607 single base substitution T C intron_variant ESAD-UK 15 68955153 68955153 single base substitution T C intron_variant ESAD-UK 15 68955194 68955194 single base substitution A G intron_variant ESAD-UK 15 68955694 68955694 single base substitution C T intron_variant ESAD-UK 15 68956491 68956491 single base substitution T G intron_variant ESAD-UK 15 68956837 68956837 single base substitution T A intron_variant ESAD-UK 15 68957768 68957768 single base substitution G A intron_variant ESAD-UK 15 68958759 68958759 insertion of <=200bp - C intron_variant ESAD-UK 15 68959077 68959077 single base substitution C T intron_variant ESAD-UK 15 68959997 68959997 single base substitution G T intron_variant ESAD-UK 15 68962719 68962719 single base substitution G T intron_variant ESAD-UK 15 68963073 68963073 single base substitution C G intron_variant ESAD-UK 15 68964994 68964994 single base substitution C T intron_variant ESAD-UK 15 68965580 68965580 single base substitution G A intron_variant ESAD-UK 15 68966515 68966515 single base substitution C T intron_variant ESAD-UK 15 68966531 68966531 single base substitution A C intron_variant ESAD-UK 15 68966608 68966608 single base substitution C A intron_variant ESAD-UK 15 68966643 68966643 single base substitution C T intron_variant ESAD-UK 15 68967147 68967153 deletion of <=200bp CTCTTTT - intron_variant ESAD-UK 15 68967586 68967586 single base substitution G A intron_variant ESAD-UK 15 68970812 68970812 single base substitution A C intron_variant ESAD-UK 15 68971243 68971243 deletion of <=200bp G - intron_variant ESAD-UK 15 68971575 68971575 single base substitution T C intron_variant ESAD-UK 15 68971685 68971685 single base substitution G T intron_variant ESAD-UK 15 68973278 68973278 single base substitution C T intron_variant ESAD-UK 15 68974035 68974035 single base substitution A G intron_variant ESAD-UK 15 68974611 68974611 single base substitution A G intron_variant ESAD-UK 15 68977046 68977046 single base substitution C T intron_variant ESAD-UK 15 68977801 68977801 single base substitution T G intron_variant ESAD-UK 15 68979201 68979201 single base substitution G T intron_variant ESAD-UK 15 68979536 68979536 single base substitution G C intron_variant ESAD-UK 15 68980126 68980126 single base substitution G C intron_variant ESAD-UK 15 68981709 68981709 single base substitution G A intron_variant ESAD-UK 15 68982442 68982442 single base substitution A G intron_variant ESAD-UK 15 68986271 68986271 single base substitution T C intron_variant ESAD-UK 15 68987425 68987425 single base substitution C T intron_variant ESAD-UK 15 68987741 68987741 single base substitution G T intron_variant ESAD-UK 15 68989824 68989824 single base substitution G C intron_variant ESAD-UK 15 68991338 68991338 single base substitution A G intron_variant ESAD-UK 15 68991572 68991572 single base substitution T G intron_variant ESAD-UK 15 68992386 68992386 single base substitution G C intron_variant ESAD-UK 15 68995412 68995412 single base substitution C A intron_variant ESAD-UK 15 68995418 68995418 single base substitution G A intron_variant ESAD-UK 15 68995781 68995781 single base substitution C T intron_variant ESAD-UK 15 68996321 68996321 single base substitution T A intron_variant ESAD-UK 15 68997835 68997835 single base substitution G A intron_variant ESAD-UK 15 68999759 68999759 single base substitution T G intron_variant ESAD-UK 15 69001698 69001698 single base substitution A C intron_variant ESAD-UK 15 69002301 69002301 single base substitution A C intron_variant ESAD-UK 15 69002733 69002733 single base substitution A G intron_variant ESAD-UK 15 69002787 69002787 single base substitution G A intron_variant ESAD-UK 15 69003991 69003991 single base substitution G T synonymous_variant T193T 579G>T ESAD-UK 15 69003991 69003991 single base substitution G T synonymous_variant T198T 594G>T ESAD-UK 15 69007693 69007693 single base substitution C T intron_variant ESAD-UK 15 69007795 69007795 single base substitution G T intron_variant ESAD-UK 15 69007994 69007994 single base substitution A C intron_variant ESAD-UK 15 69010740 69010740 single base substitution T G intron_variant ESAD-UK 15 69010885 69010885 single base substitution C T intron_variant ESAD-UK 15 69010919 69010919 single base substitution G A intron_variant ESAD-UK 15 69011408 69011408 single base substitution G T intron_variant ESAD-UK 15 69011544 69011544 single base substitution C G missense_variant P376R 1127C>G ESAD-UK 15 69011544 69011544 single base substitution C G missense_variant P381R 1142C>G ESAD-UK 15 69011607 69011607 single base substitution G A intron_variant ESAD-UK 15 69013762 69013762 single base substitution G A intron_variant ESAD-UK 15 69014415 69014415 single base substitution C T intron_variant ESAD-UK 15 69019017 69019017 single base substitution A C 3_prime_UTR_variant ESAD-UK 15 69020225 69020225 single base substitution C T downstream_gene_variant ESAD-UK 15 69021681 69021681 single base substitution T A downstream_gene_variant ESAD-UK 15 69022250 69022250 single base substitution G A downstream_gene_variant ESAD-UK 15 69023394 69023394 single base substitution G A downstream_gene_variant ESCA-CN 15 68937577 68937577 single base substitution G A missense_variant D27N 79G>A ESCA-CN 15 68937577 68937577 single base substitution G A missense_variant D32N 94G>A ESCA-CN 15 69003117 69003117 single base substitution C T missense_variant T122M 365C>T ESCA-CN 15 69003117 69003117 single base substitution C T missense_variant T127M 380C>T KIRC-US 15 69003112 69003112 single base substitution C T synonymous_variant N120N 360C>T KIRC-US 15 69003112 69003112 single base substitution C T synonymous_variant N125N 375C>T KIRC-US 15 69006276 69006276 deletion of <=200bp A - frameshift_variant K216 KIRC-US 15 69006276 69006276 deletion of <=200bp A - frameshift_variant K221 LAML-KR 15 68921033 68921033 single base substitution C T intron_variant LAML-KR 15 68921033 68921033 single base substitution C T upstream_gene_variant LAML-KR 15 68948483 68948483 single base substitution A C intron_variant LAML-KR 15 68978377 68978377 single base substitution C T intron_variant LICA-FR 15 68870064 68870065 deletion of <=200bp AA - upstream_gene_variant LICA-FR 15 68876404 68876404 single base substitution A G intron_variant LICA-FR 15 68900157 68900157 deletion of <=200bp A - intron_variant LICA-FR 15 68907143 68907143 single base substitution T A intron_variant LICA-FR 15 68907143 68907143 single base substitution T A upstream_gene_variant LICA-FR 15 68917854 68917854 single base substitution C T intron_variant LICA-FR 15 68940029 68940029 insertion of <=200bp - AAAA intron_variant LICA-FR 15 68942681 68942681 single base substitution A G intron_variant LICA-FR 15 68953725 68953725 single base substitution C G intron_variant LICA-FR 15 68971639 68971639 single base substitution G A intron_variant LICA-FR 15 69003149 69003149 single base substitution C G missense_variant R133G 397C>G LICA-FR 15 69003149 69003149 single base substitution C G missense_variant R138G 412C>G LICA-FR 15 69009215 69009215 single base substitution G T intron_variant LICA-FR 15 69018239 69018239 single base substitution G A missense_variant A452T 1354G>A LICA-FR 15 69018239 69018239 single base substitution G A missense_variant A457T 1369G>A LICA-FR 15 69018290 69018290 single base substitution C A missense_variant R469S 1405C>A LICA-FR 15 69018290 69018290 single base substitution C A missense_variant R474S 1420C>A LICA-FR 15 69018298 69018298 single base substitution C T synonymous_variant S471S 1413C>T LICA-FR 15 69018298 69018298 single base substitution C T synonymous_variant S476S 1428C>T LIHC-US 15 68937510 68937510 single base substitution T C synonymous_variant R4R 12T>C LIHC-US 15 68937510 68937510 single base substitution T C synonymous_variant R9R 27T>C LIHC-US 15 69006317 69006317 single base substitution G T missense_variant M229I 687G>T LIHC-US 15 69006317 69006317 single base substitution G T missense_variant M234I 702G>T LIHC-US 15 69011111 69011111 single base substitution G T missense_variant G343C 1027G>T LIHC-US 15 69011111 69011111 single base substitution G T missense_variant G348C 1042G>T LINC-JP 15 68870321 68870321 single base substitution G A upstream_gene_variant LINC-JP 15 68911484 68911484 single base substitution T G intron_variant LINC-JP 15 68913058 68913058 single base substitution T C intron_variant LINC-JP 15 68925853 68925853 single base substitution T C intron_variant LINC-JP 15 68932189 68932189 single base substitution T C intron_variant LINC-JP 15 68938419 68938419 insertion of <=200bp - T intron_variant LINC-JP 15 68958410 68958410 single base substitution A G intron_variant LINC-JP 15 68962415 68962415 single base substitution A G intron_variant LINC-JP 15 68980153 68980153 single base substitution G A intron_variant LINC-JP 15 68984781 68984781 single base substitution G T intron_variant LINC-JP 15 68995112 68995112 single base substitution T C intron_variant LINC-JP 15 69003275 69003275 deletion of <=200bp T - intron_variant LINC-JP 15 69003866 69003866 single base substitution C T intron_variant LINC-JP 15 69006880 69006880 single base substitution C T intron_variant LINC-JP 15 69006914 69006914 single base substitution C T missense_variant P256L 767C>T LINC-JP 15 69006914 69006914 single base substitution C T missense_variant P261L 782C>T LINC-JP 15 69007020 69007020 single base substitution A C intron_variant LINC-JP 15 69013033 69013033 single base substitution G T intron_variant LIRI-JP 15 68866896 68866896 single base substitution C G upstream_gene_variant LIRI-JP 15 68867435 68867435 single base substitution A G upstream_gene_variant LIRI-JP 15 68868814 68868814 single base substitution A T upstream_gene_variant LIRI-JP 15 68869141 68869141 single base substitution T C upstream_gene_variant LIRI-JP 15 68874438 68874438 single base substitution T C intron_variant LIRI-JP 15 68876913 68876913 single base substitution G T intron_variant LIRI-JP 15 68876979 68876979 single base substitution T C intron_variant LIRI-JP 15 68877566 68877566 single base substitution C A intron_variant LIRI-JP 15 68877767 68877767 single base substitution G C intron_variant LIRI-JP 15 68880126 68880126 single base substitution T C intron_variant LIRI-JP 15 68883399 68883399 single base substitution G T intron_variant LIRI-JP 15 68883744 68883744 single base substitution G C intron_variant LIRI-JP 15 68884083 68884083 single base substitution A G intron_variant LIRI-JP 15 68889067 68889067 deletion of <=200bp G - intron_variant LIRI-JP 15 68891254 68891254 single base substitution A T intron_variant LIRI-JP 15 68893380 68893380 single base substitution C T intron_variant LIRI-JP 15 68894062 68894062 single base substitution G A intron_variant LIRI-JP 15 68894111 68894111 single base substitution G A intron_variant LIRI-JP 15 68895241 68895241 single base substitution G A intron_variant LIRI-JP 15 68895289 68895289 single base substitution C G intron_variant LIRI-JP 15 68895323 68895323 single base substitution A G intron_variant LIRI-JP 15 68897133 68897133 single base substitution T G intron_variant LIRI-JP 15 68897539 68897539 single base substitution C A intron_variant LIRI-JP 15 68898209 68898209 single base substitution A C intron_variant LIRI-JP 15 68901455 68901455 single base substitution G A intron_variant LIRI-JP 15 68901770 68901770 single base substitution G T intron_variant LIRI-JP 15 68903756 68903756 single base substitution C A intron_variant LIRI-JP 15 68904070 68904070 single base substitution T C intron_variant LIRI-JP 15 68904070 68904070 single base substitution T C upstream_gene_variant LIRI-JP 15 68904592 68904592 single base substitution G A intron_variant LIRI-JP 15 68904592 68904592 single base substitution G A upstream_gene_variant LIRI-JP 15 68905004 68905004 single base substitution T A intron_variant LIRI-JP 15 68905004 68905004 single base substitution T A upstream_gene_variant LIRI-JP 15 68905558 68905558 single base substitution T A intron_variant LIRI-JP 15 68905558 68905558 single base substitution T A upstream_gene_variant LIRI-JP 15 68907540 68907540 single base substitution C T intron_variant LIRI-JP 15 68907540 68907540 single base substitution C T upstream_gene_variant LIRI-JP 15 68908767 68908767 single base substitution G A intron_variant LIRI-JP 15 68908767 68908767 single base substitution G A upstream_gene_variant LIRI-JP 15 68910232 68910232 single base substitution G T intron_variant LIRI-JP 15 68911807 68911807 single base substitution G C intron_variant LIRI-JP 15 68912942 68912942 single base substitution C G intron_variant LIRI-JP 15 68914186 68914186 single base substitution C T intron_variant LIRI-JP 15 68914690 68914690 single base substitution G A intron_variant LIRI-JP 15 68916537 68916537 single base substitution C A intron_variant LIRI-JP 15 68917166 68917166 single base substitution T C intron_variant LIRI-JP 15 68918066 68918066 single base substitution C A intron_variant LIRI-JP 15 68918903 68918903 single base substitution A G intron_variant LIRI-JP 15 68919054 68919054 single base substitution A G intron_variant LIRI-JP 15 68919117 68919117 single base substitution G T intron_variant LIRI-JP 15 68920225 68920225 single base substitution A C intron_variant LIRI-JP 15 68920225 68920225 single base substitution A C upstream_gene_variant LIRI-JP 15 68920231 68920231 single base substitution G A intron_variant LIRI-JP 15 68920231 68920231 single base substitution G A upstream_gene_variant LIRI-JP 15 68921129 68921129 single base substitution T C intron_variant LIRI-JP 15 68921129 68921129 single base substitution T C upstream_gene_variant LIRI-JP 15 68921617 68921617 single base substitution G A intron_variant LIRI-JP 15 68921617 68921617 single base substitution G A upstream_gene_variant LIRI-JP 15 68922202 68922203 deletion of <=200bp AC - intron_variant LIRI-JP 15 68922202 68922203 deletion of <=200bp AC - upstream_gene_variant LIRI-JP 15 68922255 68922256 deletion of <=200bp AG - intron_variant LIRI-JP 15 68922255 68922256 deletion of <=200bp AG - upstream_gene_variant LIRI-JP 15 68922318 68922318 single base substitution C T intron_variant LIRI-JP 15 68922318 68922318 single base substitution C T upstream_gene_variant LIRI-JP 15 68923083 68923083 single base substitution A G intron_variant LIRI-JP 15 68923083 68923083 single base substitution A G upstream_gene_variant LIRI-JP 15 68923471 68923471 single base substitution C T intron_variant LIRI-JP 15 68923471 68923471 single base substitution C T upstream_gene_variant LIRI-JP 15 68924465 68924465 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 15 68924465 68924465 single base substitution C T intron_variant LIRI-JP 15 68926514 68926514 single base substitution G A intron_variant LIRI-JP 15 68927808 68927808 single base substitution C T intron_variant LIRI-JP 15 68928810 68928810 single base substitution C T intron_variant LIRI-JP 15 68928827 68928827 single base substitution C A intron_variant LIRI-JP 15 68931116 68931116 single base substitution A G intron_variant LIRI-JP 15 68931514 68931514 single base substitution C T intron_variant LIRI-JP 15 68938134 68938134 single base substitution A G intron_variant LIRI-JP 15 68938610 68938610 single base substitution A T intron_variant LIRI-JP 15 68938896 68938896 single base substitution A T intron_variant LIRI-JP 15 68939247 68939247 single base substitution A C intron_variant LIRI-JP 15 68940075 68940075 single base substitution C T intron_variant LIRI-JP 15 68942542 68942542 single base substitution T C intron_variant LIRI-JP 15 68944974 68944974 single base substitution A G intron_variant LIRI-JP 15 68946445 68946445 single base substitution T C intron_variant LIRI-JP 15 68946447 68946447 single base substitution T G intron_variant LIRI-JP 15 68947318 68947332 deletion of <=200bp GGTGCAGGGTCTCCA - intron_variant LIRI-JP 15 68947731 68947731 deletion of <=200bp C - intron_variant LIRI-JP 15 68948762 68948762 single base substitution G A intron_variant LIRI-JP 15 68949826 68949826 single base substitution T A intron_variant LIRI-JP 15 68950380 68950380 single base substitution C T intron_variant LIRI-JP 15 68950510 68950510 single base substitution T A intron_variant LIRI-JP 15 68950754 68950754 single base substitution G T intron_variant LIRI-JP 15 68950986 68950986 single base substitution A G intron_variant LIRI-JP 15 68951287 68951287 single base substitution G A intron_variant LIRI-JP 15 68952148 68952148 single base substitution C A intron_variant LIRI-JP 15 68953300 68953300 single base substitution T C intron_variant LIRI-JP 15 68954305 68954305 single base substitution C T intron_variant LIRI-JP 15 68954361 68954361 single base substitution A T intron_variant LIRI-JP 15 68956782 68956782 single base substitution C T intron_variant LIRI-JP 15 68957766 68957766 single base substitution T C intron_variant LIRI-JP 15 68958770 68958770 single base substitution C A intron_variant LIRI-JP 15 68959384 68959384 single base substitution G C intron_variant LIRI-JP 15 68960692 68960692 single base substitution G C intron_variant LIRI-JP 15 68960731 68960731 single base substitution G A intron_variant LIRI-JP 15 68960769 68960769 single base substitution G A intron_variant LIRI-JP 15 68961551 68961551 single base substitution C T intron_variant LIRI-JP 15 68964192 68964192 single base substitution G A intron_variant LIRI-JP 15 68969363 68969363 single base substitution T A intron_variant LIRI-JP 15 68970365 68970365 single base substitution T C intron_variant LIRI-JP 15 68970647 68970647 single base substitution G T intron_variant LIRI-JP 15 68970648 68970648 single base substitution T C intron_variant LIRI-JP 15 68970802 68970802 single base substitution C A intron_variant LIRI-JP 15 68971818 68971818 single base substitution C T intron_variant LIRI-JP 15 68973576 68973576 single base substitution G A intron_variant LIRI-JP 15 68973793 68973793 single base substitution A G intron_variant LIRI-JP 15 68974040 68974040 single base substitution G A intron_variant LIRI-JP 15 68974100 68974100 single base substitution G T intron_variant LIRI-JP 15 68975491 68975491 single base substitution C A intron_variant LIRI-JP 15 68976391 68976391 single base substitution G A intron_variant LIRI-JP 15 68976392 68976392 single base substitution C A intron_variant LIRI-JP 15 68976626 68976626 single base substitution C T intron_variant LIRI-JP 15 68978101 68978101 single base substitution T A intron_variant LIRI-JP 15 68978140 68978147 deletion of <=200bp TGATAAGT - intron_variant LIRI-JP 15 68980083 68980083 single base substitution C T intron_variant LIRI-JP 15 68980559 68980559 single base substitution C T intron_variant LIRI-JP 15 68981618 68981618 single base substitution A G intron_variant LIRI-JP 15 68984856 68984856 single base substitution G A intron_variant LIRI-JP 15 68986942 68986942 single base substitution A T intron_variant LIRI-JP 15 68987053 68987053 deletion of <=200bp G - intron_variant LIRI-JP 15 68987470 68987470 single base substitution C A intron_variant LIRI-JP 15 68987943 68987943 single base substitution A T intron_variant LIRI-JP 15 68988747 68988747 single base substitution G A intron_variant LIRI-JP 15 68988797 68988797 single base substitution A G intron_variant LIRI-JP 15 68992937 68992937 single base substitution G A intron_variant LIRI-JP 15 68993295 68993295 single base substitution C T intron_variant LIRI-JP 15 68994521 68994521 single base substitution T A intron_variant LIRI-JP 15 68997819 68997819 single base substitution C T intron_variant LIRI-JP 15 69000603 69000603 single base substitution G A intron_variant LIRI-JP 15 69001826 69001826 single base substitution A G intron_variant LIRI-JP 15 69003908 69003908 single base substitution G A missense_variant E166K 496G>A LIRI-JP 15 69003908 69003908 single base substitution G A missense_variant E171K 511G>A LIRI-JP 15 69004324 69004324 single base substitution C T intron_variant LIRI-JP 15 69004706 69004706 single base substitution T A intron_variant LIRI-JP 15 69005782 69005782 single base substitution G A intron_variant LIRI-JP 15 69006851 69006851 single base substitution A G intron_variant LIRI-JP 15 69008487 69008487 single base substitution C T intron_variant LIRI-JP 15 69009469 69009469 single base substitution C A intron_variant LIRI-JP 15 69011483 69011483 single base substitution T C missense_variant S356P 1066T>C LIRI-JP 15 69011483 69011483 single base substitution T C missense_variant S361P 1081T>C LIRI-JP 15 69014666 69014666 single base substitution A G intron_variant LIRI-JP 15 69017178 69017178 single base substitution G A intron_variant LIRI-JP 15 69018852 69018852 single base substitution G T 3_prime_UTR_variant LIRI-JP 15 69019390 69019390 single base substitution G C 3_prime_UTR_variant LIRI-JP 15 69020278 69020278 single base substitution A G downstream_gene_variant LIRI-JP 15 69020322 69020322 single base substitution G T downstream_gene_variant LIRI-JP 15 69020637 69020637 single base substitution G T downstream_gene_variant LIRI-JP 15 69020884 69020884 single base substitution A T downstream_gene_variant LIRI-JP 15 69024596 69024596 single base substitution A G downstream_gene_variant LUSC-KR 15 68877154 68877154 single base substitution G T intron_variant LUSC-KR 15 68882239 68882239 single base substitution G C intron_variant LUSC-KR 15 68889349 68889349 single base substitution G A intron_variant LUSC-KR 15 68894168 68894168 single base substitution C A intron_variant LUSC-KR 15 68897704 68897704 single base substitution G C intron_variant LUSC-KR 15 68903336 68903336 single base substitution G T intron_variant LUSC-KR 15 68913178 68913178 single base substitution A T intron_variant LUSC-KR 15 68915586 68915586 single base substitution G A intron_variant LUSC-KR 15 68917433 68917433 single base substitution C T intron_variant LUSC-KR 15 68918141 68918141 single base substitution A G intron_variant LUSC-KR 15 68921534 68921534 single base substitution G T intron_variant LUSC-KR 15 68921534 68921534 single base substitution G T upstream_gene_variant LUSC-KR 15 68922884 68922884 single base substitution T C intron_variant LUSC-KR 15 68922884 68922884 single base substitution T C upstream_gene_variant LUSC-KR 15 68923530 68923530 single base substitution T A intron_variant LUSC-KR 15 68923530 68923530 single base substitution T A upstream_gene_variant LUSC-KR 15 68926993 68926993 single base substitution C A intron_variant LUSC-KR 15 68928144 68928144 single base substitution C T intron_variant LUSC-KR 15 68931472 68931472 single base substitution C G intron_variant LUSC-KR 15 68932283 68932283 single base substitution G A intron_variant LUSC-KR 15 68932868 68932868 single base substitution G C intron_variant LUSC-KR 15 68938304 68938304 single base substitution G T intron_variant LUSC-KR 15 68940733 68940733 single base substitution C A intron_variant LUSC-KR 15 68941998 68941998 single base substitution T C intron_variant LUSC-KR 15 68943097 68943097 single base substitution C T intron_variant LUSC-KR 15 68943320 68943320 single base substitution A G intron_variant LUSC-KR 15 68944247 68944247 single base substitution G C intron_variant LUSC-KR 15 68944712 68944712 single base substitution C T intron_variant LUSC-KR 15 68945752 68945752 single base substitution C A intron_variant LUSC-KR 15 68964363 68964363 single base substitution G C intron_variant LUSC-KR 15 68966203 68966203 single base substitution G T intron_variant LUSC-KR 15 68969267 68969267 single base substitution T C intron_variant LUSC-KR 15 68971349 68971349 single base substitution G T intron_variant LUSC-KR 15 68978225 68978225 single base substitution G T intron_variant LUSC-KR 15 68978817 68978817 single base substitution A G intron_variant LUSC-KR 15 68981415 68981415 single base substitution C A intron_variant LUSC-KR 15 68982989 68982989 single base substitution T C intron_variant LUSC-KR 15 68982991 68982991 single base substitution T C intron_variant LUSC-KR 15 68982994 68982994 single base substitution T C intron_variant LUSC-KR 15 68986179 68986179 single base substitution T C intron_variant LUSC-KR 15 68990647 68990647 single base substitution T C intron_variant LUSC-KR 15 68991281 68991281 single base substitution A C intron_variant LUSC-KR 15 69003788 69003788 single base substitution G A intron_variant LUSC-KR 15 69007061 69007061 single base substitution A C intron_variant LUSC-KR 15 69010848 69010848 single base substitution G C intron_variant LUSC-KR 15 69011119 69011119 single base substitution C T synonymous_variant I345I 1035C>T LUSC-KR 15 69011119 69011119 single base substitution C T synonymous_variant I350I 1050C>T LUSC-KR 15 69011918 69011918 single base substitution C T intron_variant LUSC-KR 15 69014703 69014703 single base substitution C G intron_variant LUSC-KR 15 69015173 69015173 single base substitution G A intron_variant LUSC-KR 15 69015346 69015346 single base substitution C T intron_variant LUSC-KR 15 69017286 69017286 single base substitution T A intron_variant LUSC-KR 15 69018068 69018068 single base substitution C G intron_variant LUSC-KR 15 69018785 69018785 single base substitution C T 3_prime_UTR_variant LUSC-KR 15 69019377 69019377 single base substitution C G 3_prime_UTR_variant LUSC-KR 15 69022954 69022954 single base substitution T G downstream_gene_variant LUSC-KR 15 69023203 69023203 single base substitution G A downstream_gene_variant LUSC-KR 15 69023296 69023296 single base substitution G C downstream_gene_variant LUSC-US 15 69011060 69011060 single base substitution G T missense_variant D326Y 976G>T LUSC-US 15 69011060 69011060 single base substitution G T missense_variant D331Y 991G>T LUSC-US 15 69011811 69011811 single base substitution G T missense_variant A406S 1216G>T LUSC-US 15 69011811 69011811 single base substitution G T missense_variant A411S 1231G>T LUSC-US 15 69018240 69018240 single base substitution C G missense_variant A452G 1355C>G LUSC-US 15 69018240 69018240 single base substitution C G missense_variant A457G 1370C>G MALY-DE 15 68868283 68868283 single base substitution G T upstream_gene_variant MALY-DE 15 68895967 68895967 single base substitution C G intron_variant MALY-DE 15 68903746 68903746 single base substitution T C intron_variant MALY-DE 15 68917581 68917581 single base substitution A G intron_variant MALY-DE 15 68923863 68923863 single base substitution C A intron_variant MALY-DE 15 68923863 68923863 single base substitution C A upstream_gene_variant MALY-DE 15 68924416 68924416 single base substitution C A 5_prime_UTR_variant MALY-DE 15 68924416 68924416 single base substitution C A intron_variant MALY-DE 15 68947723 68947723 single base substitution C T intron_variant MALY-DE 15 68956791 68956791 single base substitution C T intron_variant MALY-DE 15 68966282 68966282 single base substitution A G intron_variant MALY-DE 15 68970478 68970478 single base substitution G A intron_variant MALY-DE 15 68980547 68980547 deletion of <=200bp T - intron_variant MALY-DE 15 68986277 68986277 single base substitution C T intron_variant MALY-DE 15 68994726 68994726 single base substitution C T intron_variant MALY-DE 15 69005261 69005261 single base substitution G A intron_variant MALY-DE 15 69014064 69014064 single base substitution A C intron_variant MALY-DE 15 69014546 69014546 single base substitution C T intron_variant MALY-DE 15 69019562 69019562 single base substitution T A 3_prime_UTR_variant MELA-AU 15 68866356 68866357 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 15 68866400 68866400 single base substitution C T upstream_gene_variant MELA-AU 15 68867038 68867038 single base substitution A G upstream_gene_variant MELA-AU 15 68867421 68867421 single base substitution C T upstream_gene_variant MELA-AU 15 68867476 68867476 single base substitution G A upstream_gene_variant MELA-AU 15 68867491 68867491 single base substitution C T upstream_gene_variant MELA-AU 15 68868286 68868286 single base substitution G A upstream_gene_variant MELA-AU 15 68868623 68868623 single base substitution G T upstream_gene_variant MELA-AU 15 68869591 68869591 single base substitution G A upstream_gene_variant MELA-AU 15 68869887 68869887 single base substitution C T upstream_gene_variant MELA-AU 15 68870417 68870418 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 15 68870753 68870753 insertion of <=200bp - A upstream_gene_variant MELA-AU 15 68870860 68870860 single base substitution G A upstream_gene_variant MELA-AU 15 68871710 68871710 single base substitution G A intron_variant MELA-AU 15 68871941 68871941 single base substitution T C intron_variant MELA-AU 15 68871953 68871953 single base substitution G A intron_variant MELA-AU 15 68873224 68873224 single base substitution G A intron_variant MELA-AU 15 68873268 68873268 single base substitution C T intron_variant MELA-AU 15 68873649 68873649 single base substitution C T intron_variant MELA-AU 15 68873845 68873845 single base substitution C T intron_variant MELA-AU 15 68874047 68874047 single base substitution C T intron_variant MELA-AU 15 68874076 68874076 single base substitution C T intron_variant MELA-AU 15 68874332 68874332 single base substitution C T intron_variant MELA-AU 15 68874657 68874657 single base substitution G A intron_variant MELA-AU 15 68874697 68874697 single base substitution G A intron_variant MELA-AU 15 68875168 68875168 single base substitution C A intron_variant MELA-AU 15 68876183 68876183 single base substitution T C intron_variant MELA-AU 15 68876193 68876193 single base substitution G A intron_variant MELA-AU 15 68876202 68876202 single base substitution C T intron_variant MELA-AU 15 68876359 68876359 single base substitution C T intron_variant MELA-AU 15 68876569 68876569 single base substitution C T intron_variant MELA-AU 15 68876572 68876572 single base substitution T C intron_variant MELA-AU 15 68877531 68877531 single base substitution G A intron_variant MELA-AU 15 68877812 68877812 single base substitution G A intron_variant MELA-AU 15 68878360 68878360 single base substitution C T intron_variant MELA-AU 15 68878762 68878762 single base substitution G A intron_variant MELA-AU 15 68879005 68879005 single base substitution G A intron_variant MELA-AU 15 68879223 68879223 single base substitution G A intron_variant MELA-AU 15 68879479 68879479 insertion of <=200bp - TA intron_variant MELA-AU 15 68879891 68879891 single base substitution C T intron_variant MELA-AU 15 68880053 68880053 single base substitution C T intron_variant MELA-AU 15 68880821 68880822 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 15 68880860 68880860 single base substitution G A intron_variant MELA-AU 15 68881378 68881378 single base substitution T G intron_variant MELA-AU 15 68881645 68881645 single base substitution A G intron_variant MELA-AU 15 68881905 68881905 single base substitution C T intron_variant MELA-AU 15 68882320 68882321 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 68882983 68882983 single base substitution C T intron_variant MELA-AU 15 68883256 68883256 single base substitution C T intron_variant MELA-AU 15 68883272 68883272 single base substitution C T intron_variant MELA-AU 15 68884066 68884066 single base substitution G A intron_variant MELA-AU 15 68884177 68884177 single base substitution C T intron_variant MELA-AU 15 68884317 68884317 single base substitution C T intron_variant MELA-AU 15 68884411 68884411 single base substitution C T intron_variant MELA-AU 15 68884417 68884417 single base substitution C T intron_variant MELA-AU 15 68885682 68885682 single base substitution C T intron_variant MELA-AU 15 68885760 68885760 single base substitution C T intron_variant MELA-AU 15 68885822 68885823 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 68886000 68886000 single base substitution G T intron_variant MELA-AU 15 68886658 68886658 single base substitution A T intron_variant MELA-AU 15 68887306 68887306 single base substitution T A intron_variant MELA-AU 15 68887601 68887601 single base substitution C T intron_variant MELA-AU 15 68887611 68887611 single base substitution C T intron_variant MELA-AU 15 68887677 68887677 single base substitution G A intron_variant MELA-AU 15 68887699 68887700 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 68888046 68888046 single base substitution C T intron_variant MELA-AU 15 68888182 68888182 single base substitution G A intron_variant MELA-AU 15 68888461 68888461 single base substitution G A intron_variant MELA-AU 15 68889222 68889222 single base substitution C T intron_variant MELA-AU 15 68889798 68889798 single base substitution C T intron_variant MELA-AU 15 68889827 68889827 single base substitution C G intron_variant MELA-AU 15 68891453 68891453 single base substitution G A intron_variant MELA-AU 15 68891570 68891570 single base substitution C T intron_variant MELA-AU 15 68892883 68892883 single base substitution C T intron_variant MELA-AU 15 68893194 68893194 single base substitution G A intron_variant MELA-AU 15 68893228 68893228 single base substitution C T intron_variant MELA-AU 15 68893691 68893691 single base substitution C T intron_variant MELA-AU 15 68893881 68893881 single base substitution G A intron_variant MELA-AU 15 68894226 68894226 single base substitution C G intron_variant MELA-AU 15 68895004 68895004 single base substitution C T intron_variant MELA-AU 15 68895753 68895753 single base substitution C T intron_variant MELA-AU 15 68895865 68895865 single base substitution C T intron_variant MELA-AU 15 68896140 68896140 single base substitution G A intron_variant MELA-AU 15 68898092 68898092 single base substitution C T intron_variant MELA-AU 15 68898776 68898776 single base substitution C T intron_variant MELA-AU 15 68898841 68898842 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 68899042 68899042 single base substitution G A intron_variant MELA-AU 15 68899365 68899366 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 68900039 68900039 single base substitution C T intron_variant MELA-AU 15 68900273 68900273 single base substitution A T intron_variant MELA-AU 15 68900704 68900704 single base substitution C T intron_variant MELA-AU 15 68901110 68901110 single base substitution C T intron_variant MELA-AU 15 68901260 68901260 single base substitution C T intron_variant MELA-AU 15 68901797 68901797 single base substitution C T intron_variant MELA-AU 15 68901854 68901854 single base substitution G A intron_variant MELA-AU 15 68901936 68901936 single base substitution T C intron_variant MELA-AU 15 68902850 68902850 single base substitution C T intron_variant MELA-AU 15 68902881 68902881 single base substitution T C intron_variant MELA-AU 15 68903066 68903066 single base substitution G A intron_variant MELA-AU 15 68903232 68903232 single base substitution C T intron_variant MELA-AU 15 68903686 68903686 single base substitution C T intron_variant MELA-AU 15 68903884 68903884 single base substitution G A intron_variant MELA-AU 15 68903884 68903884 single base substitution G A upstream_gene_variant MELA-AU 15 68903934 68903934 single base substitution C T intron_variant MELA-AU 15 68903934 68903934 single base substitution C T upstream_gene_variant MELA-AU 15 68904841 68904842 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 15 68904841 68904842 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 15 68904900 68904900 single base substitution C T intron_variant MELA-AU 15 68904900 68904900 single base substitution C T upstream_gene_variant MELA-AU 15 68905221 68905221 single base substitution C T intron_variant MELA-AU 15 68905221 68905221 single base substitution C T upstream_gene_variant MELA-AU 15 68905359 68905359 single base substitution G C intron_variant MELA-AU 15 68905359 68905359 single base substitution G C upstream_gene_variant MELA-AU 15 68905793 68905793 single base substitution C T intron_variant MELA-AU 15 68905793 68905793 single base substitution C T upstream_gene_variant MELA-AU 15 68905866 68905866 single base substitution G A intron_variant MELA-AU 15 68905866 68905866 single base substitution G A upstream_gene_variant MELA-AU 15 68906488 68906488 single base substitution T C intron_variant MELA-AU 15 68906488 68906488 single base substitution T C upstream_gene_variant MELA-AU 15 68906948 68906948 single base substitution A G intron_variant MELA-AU 15 68906948 68906948 single base substitution A G upstream_gene_variant MELA-AU 15 68907336 68907336 single base substitution G A intron_variant MELA-AU 15 68907336 68907336 single base substitution G A upstream_gene_variant MELA-AU 15 68907649 68907649 single base substitution T G intron_variant MELA-AU 15 68907649 68907649 single base substitution T G upstream_gene_variant MELA-AU 15 68908030 68908030 single base substitution T G intron_variant MELA-AU 15 68908030 68908030 single base substitution T G upstream_gene_variant MELA-AU 15 68909430 68909430 single base substitution G T intron_variant MELA-AU 15 68910135 68910135 single base substitution C T intron_variant MELA-AU 15 68910959 68910959 single base substitution G A intron_variant MELA-AU 15 68911323 68911323 single base substitution G T intron_variant MELA-AU 15 68912896 68912896 single base substitution C T intron_variant MELA-AU 15 68913047 68913047 single base substitution T A intron_variant MELA-AU 15 68913617 68913620 deletion of <=200bp GTCT - intron_variant MELA-AU 15 68913699 68913699 single base substitution G A intron_variant MELA-AU 15 68913805 68913805 single base substitution G A intron_variant MELA-AU 15 68913856 68913856 single base substitution G A intron_variant MELA-AU 15 68914136 68914136 single base substitution C T intron_variant MELA-AU 15 68914430 68914430 single base substitution C T intron_variant MELA-AU 15 68914485 68914485 single base substitution G A intron_variant MELA-AU 15 68914668 68914668 single base substitution T C intron_variant MELA-AU 15 68915210 68915210 single base substitution G A intron_variant MELA-AU 15 68915345 68915345 single base substitution G T intron_variant MELA-AU 15 68915597 68915597 single base substitution G A intron_variant MELA-AU 15 68915727 68915727 single base substitution C T intron_variant MELA-AU 15 68915830 68915830 single base substitution C T intron_variant MELA-AU 15 68915992 68915992 single base substitution C T intron_variant MELA-AU 15 68916788 68916788 single base substitution T A intron_variant MELA-AU 15 68916824 68916824 single base substitution C T intron_variant MELA-AU 15 68917572 68917572 single base substitution T C intron_variant MELA-AU 15 68917694 68917694 single base substitution C T intron_variant MELA-AU 15 68917724 68917724 single base substitution C T intron_variant MELA-AU 15 68917803 68917803 single base substitution C T intron_variant MELA-AU 15 68919875 68919875 single base substitution A C intron_variant MELA-AU 15 68919875 68919875 single base substitution A C upstream_gene_variant MELA-AU 15 68920208 68920208 single base substitution C T intron_variant MELA-AU 15 68920208 68920208 single base substitution C T upstream_gene_variant MELA-AU 15 68920431 68920431 single base substitution G A intron_variant MELA-AU 15 68920431 68920431 single base substitution G A upstream_gene_variant MELA-AU 15 68920432 68920432 single base substitution G A intron_variant MELA-AU 15 68920432 68920432 single base substitution G A upstream_gene_variant MELA-AU 15 68921721 68921721 single base substitution G A intron_variant MELA-AU 15 68921721 68921721 single base substitution G A upstream_gene_variant MELA-AU 15 68922298 68922298 single base substitution C T intron_variant MELA-AU 15 68922298 68922298 single base substitution C T upstream_gene_variant MELA-AU 15 68922330 68922330 single base substitution C T intron_variant MELA-AU 15 68922330 68922330 single base substitution C T upstream_gene_variant MELA-AU 15 68922720 68922720 single base substitution G A intron_variant MELA-AU 15 68922720 68922720 single base substitution G A upstream_gene_variant MELA-AU 15 68923422 68923422 single base substitution G A intron_variant MELA-AU 15 68923422 68923422 single base substitution G A upstream_gene_variant MELA-AU 15 68924424 68924424 single base substitution T C 5_prime_UTR_variant MELA-AU 15 68924424 68924424 single base substitution T C intron_variant MELA-AU 15 68925610 68925610 single base substitution A T intron_variant MELA-AU 15 68926294 68926294 single base substitution G A intron_variant MELA-AU 15 68926794 68926794 single base substitution C T intron_variant MELA-AU 15 68927618 68927618 single base substitution C T intron_variant MELA-AU 15 68928497 68928497 single base substitution G C intron_variant MELA-AU 15 68928973 68928973 single base substitution G A intron_variant MELA-AU 15 68929100 68929100 single base substitution C T intron_variant MELA-AU 15 68929643 68929643 single base substitution C T intron_variant MELA-AU 15 68929662 68929662 single base substitution C T intron_variant MELA-AU 15 68929889 68929889 single base substitution C T intron_variant MELA-AU 15 68930428 68930428 single base substitution A G intron_variant MELA-AU 15 68931439 68931439 single base substitution A T intron_variant MELA-AU 15 68932025 68932025 single base substitution C T intron_variant MELA-AU 15 68932093 68932093 single base substitution T C intron_variant MELA-AU 15 68932626 68932626 single base substitution C T intron_variant MELA-AU 15 68933507 68933507 single base substitution C T intron_variant MELA-AU 15 68934031 68934031 single base substitution C T intron_variant MELA-AU 15 68934182 68934182 single base substitution C T intron_variant MELA-AU 15 68934463 68934463 single base substitution C T intron_variant MELA-AU 15 68935894 68935894 single base substitution C T intron_variant MELA-AU 15 68937040 68937040 single base substitution C T intron_variant MELA-AU 15 68937147 68937147 single base substitution G A intron_variant MELA-AU 15 68937664 68937664 single base substitution G A missense_variant G56R 166G>A MELA-AU 15 68937664 68937664 single base substitution G A missense_variant G61R 181G>A MELA-AU 15 68937690 68937690 single base substitution C T synonymous_variant P64P 192C>T MELA-AU 15 68937690 68937690 single base substitution C T synonymous_variant P69P 207C>T MELA-AU 15 68937812 68937812 single base substitution C T intron_variant MELA-AU 15 68937881 68937881 single base substitution C T intron_variant MELA-AU 15 68939209 68939209 single base substitution A T intron_variant MELA-AU 15 68939427 68939427 deletion of <=200bp T - intron_variant MELA-AU 15 68940181 68940181 single base substitution C T intron_variant MELA-AU 15 68940912 68940912 single base substitution C T intron_variant MELA-AU 15 68941081 68941081 single base substitution C T intron_variant MELA-AU 15 68941133 68941133 single base substitution G A intron_variant MELA-AU 15 68941162 68941162 single base substitution C T intron_variant MELA-AU 15 68941409 68941409 single base substitution T C intron_variant MELA-AU 15 68942075 68942075 single base substitution T G intron_variant MELA-AU 15 68942684 68942684 single base substitution G A intron_variant MELA-AU 15 68944191 68944191 single base substitution C T intron_variant MELA-AU 15 68944219 68944219 single base substitution C T intron_variant MELA-AU 15 68944899 68944899 single base substitution G A intron_variant MELA-AU 15 68946247 68946247 single base substitution C T intron_variant MELA-AU 15 68946491 68946491 single base substitution C T intron_variant MELA-AU 15 68946516 68946516 deletion of <=200bp T - intron_variant MELA-AU 15 68947263 68947263 single base substitution G A intron_variant MELA-AU 15 68947761 68947761 single base substitution T C intron_variant MELA-AU 15 68948014 68948014 single base substitution T C intron_variant MELA-AU 15 68949458 68949458 single base substitution G T intron_variant MELA-AU 15 68949783 68949783 single base substitution G A intron_variant MELA-AU 15 68950345 68950346 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 68950392 68950392 single base substitution C G intron_variant MELA-AU 15 68950457 68950457 single base substitution C T intron_variant MELA-AU 15 68950884 68950884 single base substitution C T intron_variant MELA-AU 15 68950885 68950885 single base substitution C T intron_variant MELA-AU 15 68951760 68951760 single base substitution T C intron_variant MELA-AU 15 68951849 68951849 single base substitution C T intron_variant MELA-AU 15 68952440 68952440 single base substitution C T intron_variant MELA-AU 15 68953224 68953224 single base substitution C T intron_variant MELA-AU 15 68953793 68953793 single base substitution C T intron_variant MELA-AU 15 68954172 68954172 single base substitution C T intron_variant MELA-AU 15 68954369 68954369 single base substitution T A intron_variant MELA-AU 15 68954387 68954387 single base substitution C T intron_variant MELA-AU 15 68954773 68954773 single base substitution T G intron_variant MELA-AU 15 68954914 68954914 single base substitution T C intron_variant MELA-AU 15 68955626 68955626 single base substitution C T intron_variant MELA-AU 15 68956068 68956068 single base substitution A C intron_variant MELA-AU 15 68956075 68956075 single base substitution T G intron_variant MELA-AU 15 68956621 68956621 single base substitution C T intron_variant MELA-AU 15 68957003 68957003 single base substitution C T intron_variant MELA-AU 15 68957140 68957140 single base substitution C T intron_variant MELA-AU 15 68957200 68957200 single base substitution G A intron_variant MELA-AU 15 68957584 68957584 single base substitution C T intron_variant MELA-AU 15 68958652 68958652 single base substitution C T intron_variant MELA-AU 15 68958903 68958903 single base substitution G A intron_variant MELA-AU 15 68959661 68959661 single base substitution C T intron_variant MELA-AU 15 68959749 68959749 single base substitution C T intron_variant MELA-AU 15 68959803 68959803 single base substitution C T intron_variant MELA-AU 15 68960037 68960037 single base substitution C T intron_variant MELA-AU 15 68960865 68960865 single base substitution G A intron_variant MELA-AU 15 68960999 68960999 single base substitution C T intron_variant MELA-AU 15 68961389 68961389 single base substitution C T intron_variant MELA-AU 15 68961416 68961416 single base substitution G A intron_variant MELA-AU 15 68961698 68961698 single base substitution C T intron_variant MELA-AU 15 68962004 68962004 single base substitution C A intron_variant MELA-AU 15 68962193 68962193 single base substitution C T intron_variant MELA-AU 15 68962299 68962299 single base substitution G A intron_variant MELA-AU 15 68962769 68962769 single base substitution T C intron_variant MELA-AU 15 68963862 68963863 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 15 68963903 68963903 single base substitution G A intron_variant MELA-AU 15 68964065 68964065 single base substitution A G intron_variant MELA-AU 15 68965366 68965366 single base substitution C T intron_variant MELA-AU 15 68967380 68967380 single base substitution G A intron_variant MELA-AU 15 68968828 68968828 single base substitution C T intron_variant MELA-AU 15 68970324 68970324 single base substitution G A intron_variant MELA-AU 15 68971337 68971337 single base substitution A G intron_variant MELA-AU 15 68971806 68971806 single base substitution G A intron_variant MELA-AU 15 68973147 68973147 single base substitution T A intron_variant MELA-AU 15 68974430 68974430 single base substitution C A intron_variant MELA-AU 15 68974790 68974790 single base substitution G A intron_variant MELA-AU 15 68975501 68975501 single base substitution C T intron_variant MELA-AU 15 68975540 68975540 single base substitution G A intron_variant MELA-AU 15 68975663 68975663 single base substitution C T intron_variant MELA-AU 15 68975913 68975913 single base substitution C T intron_variant MELA-AU 15 68976117 68976117 single base substitution C T intron_variant MELA-AU 15 68976297 68976297 single base substitution G A intron_variant MELA-AU 15 68976526 68976526 single base substitution C T intron_variant MELA-AU 15 68976934 68976934 single base substitution G T intron_variant MELA-AU 15 68976968 68976968 single base substitution C T intron_variant MELA-AU 15 68977049 68977049 single base substitution G A intron_variant MELA-AU 15 68977136 68977136 single base substitution G A intron_variant MELA-AU 15 68978108 68978108 single base substitution G A intron_variant MELA-AU 15 68978265 68978265 single base substitution G A intron_variant MELA-AU 15 68978296 68978296 single base substitution C T intron_variant MELA-AU 15 68979192 68979192 single base substitution C T intron_variant MELA-AU 15 68979232 68979232 single base substitution C T intron_variant MELA-AU 15 68979305 68979305 single base substitution A C intron_variant MELA-AU 15 68979786 68979786 single base substitution G A intron_variant MELA-AU 15 68980738 68980738 single base substitution G A intron_variant MELA-AU 15 68981210 68981210 single base substitution C T intron_variant MELA-AU 15 68981528 68981528 single base substitution C T intron_variant MELA-AU 15 68982732 68982732 single base substitution C T intron_variant MELA-AU 15 68985962 68985962 single base substitution A G intron_variant MELA-AU 15 68986035 68986035 single base substitution C T intron_variant MELA-AU 15 68987452 68987452 single base substitution C T intron_variant MELA-AU 15 68987462 68987462 single base substitution C T intron_variant MELA-AU 15 68987520 68987521 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained HQ81H* MELA-AU 15 68987520 68987521 multiple base substitution (>=2bp and <=200bp) CC TT stop_gained HQ86H* MELA-AU 15 68987637 68987637 single base substitution C T intron_variant MELA-AU 15 68987666 68987666 single base substitution C T intron_variant MELA-AU 15 68987866 68987866 single base substitution A G intron_variant MELA-AU 15 68988497 68988497 single base substitution G A intron_variant MELA-AU 15 68988798 68988798 single base substitution G A intron_variant MELA-AU 15 68989910 68989910 single base substitution G A intron_variant MELA-AU 15 68989920 68989920 single base substitution G A intron_variant MELA-AU 15 68990493 68990493 single base substitution G A intron_variant MELA-AU 15 68990827 68990827 single base substitution C T intron_variant MELA-AU 15 68992368 68992368 single base substitution G A intron_variant MELA-AU 15 68992546 68992546 single base substitution G A intron_variant MELA-AU 15 68993675 68993675 single base substitution G A intron_variant MELA-AU 15 68994427 68994427 single base substitution C T intron_variant MELA-AU 15 68994809 68994809 single base substitution C T intron_variant MELA-AU 15 68994958 68994958 single base substitution C T intron_variant MELA-AU 15 68995386 68995386 single base substitution G A intron_variant MELA-AU 15 68995408 68995408 single base substitution C T intron_variant MELA-AU 15 68995888 68995888 single base substitution C T intron_variant MELA-AU 15 68996360 68996360 single base substitution C T intron_variant MELA-AU 15 68996675 68996675 single base substitution A G intron_variant MELA-AU 15 68997210 68997210 single base substitution C T intron_variant MELA-AU 15 68998085 68998085 single base substitution G A intron_variant MELA-AU 15 68999852 68999852 single base substitution C T intron_variant MELA-AU 15 69000032 69000032 single base substitution C T intron_variant MELA-AU 15 69000199 69000199 single base substitution C T intron_variant MELA-AU 15 69000338 69000338 single base substitution G A intron_variant MELA-AU 15 69000353 69000353 single base substitution G A intron_variant MELA-AU 15 69000537 69000537 single base substitution C T intron_variant MELA-AU 15 69000571 69000571 single base substitution A G intron_variant MELA-AU 15 69000661 69000661 single base substitution G A intron_variant MELA-AU 15 69000956 69000956 single base substitution C T intron_variant MELA-AU 15 69001309 69001309 single base substitution C T intron_variant MELA-AU 15 69002612 69002612 single base substitution C T intron_variant MELA-AU 15 69002999 69002999 single base substitution G T intron_variant MELA-AU 15 69003090 69003090 single base substitution C T missense_variant P113L 338C>T MELA-AU 15 69003090 69003090 single base substitution C T missense_variant P118L 353C>T MELA-AU 15 69003106 69003106 single base substitution G A synonymous_variant K118K 354G>A MELA-AU 15 69003106 69003106 single base substitution G A synonymous_variant K123K 369G>A MELA-AU 15 69003151 69003151 single base substitution G A synonymous_variant R133R 399G>A MELA-AU 15 69003151 69003151 single base substitution G A synonymous_variant R138R 414G>A MELA-AU 15 69003193 69003193 single base substitution C T synonymous_variant I147I 441C>T MELA-AU 15 69003193 69003193 single base substitution C T synonymous_variant I152I 456C>T MELA-AU 15 69003290 69003290 single base substitution G A intron_variant MELA-AU 15 69003617 69003617 single base substitution C T intron_variant MELA-AU 15 69003872 69003872 single base substitution C T intron_variant MELA-AU 15 69004723 69004723 single base substitution C T intron_variant MELA-AU 15 69005478 69005478 single base substitution C T intron_variant MELA-AU 15 69006188 69006188 single base substitution C T intron_variant MELA-AU 15 69006201 69006201 single base substitution C T intron_variant MELA-AU 15 69006290 69006290 single base substitution G T synonymous_variant V220V 660G>T MELA-AU 15 69006290 69006290 single base substitution G T synonymous_variant V225V 675G>T MELA-AU 15 69006364 69006364 single base substitution T A missense_variant I245N 734T>A MELA-AU 15 69006364 69006364 single base substitution T A missense_variant I250N 749T>A MELA-AU 15 69006458 69006458 single base substitution G T intron_variant MELA-AU 15 69006686 69006686 single base substitution C T intron_variant MELA-AU 15 69006963 69006963 single base substitution C T synonymous_variant F272F 816C>T MELA-AU 15 69006963 69006963 single base substitution C T synonymous_variant F277F 831C>T MELA-AU 15 69007646 69007646 single base substitution C T synonymous_variant G316G 948C>T MELA-AU 15 69007646 69007646 single base substitution C T synonymous_variant G321G 963C>T MELA-AU 15 69007647 69007647 single base substitution C T synonymous_variant L317L 949C>T MELA-AU 15 69007647 69007647 single base substitution C T synonymous_variant L322L 964C>T MELA-AU 15 69007998 69007998 single base substitution C T intron_variant MELA-AU 15 69008182 69008182 single base substitution C T intron_variant MELA-AU 15 69008215 69008215 single base substitution C T intron_variant MELA-AU 15 69008753 69008753 single base substitution C T intron_variant MELA-AU 15 69008850 69008850 single base substitution C T intron_variant MELA-AU 15 69009333 69009333 single base substitution C T intron_variant MELA-AU 15 69009335 69009335 single base substitution G A intron_variant MELA-AU 15 69010377 69010377 single base substitution C T intron_variant MELA-AU 15 69010679 69010679 single base substitution C T intron_variant MELA-AU 15 69010891 69010892 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 15 69011262 69011262 single base substitution G A intron_variant MELA-AU 15 69011592 69011592 single base substitution C T intron_variant MELA-AU 15 69011875 69011875 single base substitution C T missense_variant P427L 1280C>T MELA-AU 15 69011875 69011875 single base substitution C T missense_variant P432L 1295C>T MELA-AU 15 69013792 69013792 single base substitution C T intron_variant MELA-AU 15 69013869 69013869 single base substitution A G intron_variant MELA-AU 15 69013876 69013876 single base substitution C T intron_variant MELA-AU 15 69014225 69014225 single base substitution T C intron_variant MELA-AU 15 69014258 69014258 insertion of <=200bp - T intron_variant MELA-AU 15 69014317 69014317 single base substitution C T intron_variant MELA-AU 15 69014841 69014841 single base substitution G A intron_variant MELA-AU 15 69015263 69015263 single base substitution A T intron_variant MELA-AU 15 69015288 69015288 single base substitution C T intron_variant MELA-AU 15 69015916 69015916 single base substitution C T intron_variant MELA-AU 15 69016408 69016408 single base substitution G A intron_variant MELA-AU 15 69016438 69016438 single base substitution G A intron_variant MELA-AU 15 69017155 69017155 single base substitution T G intron_variant MELA-AU 15 69017263 69017263 single base substitution C T intron_variant MELA-AU 15 69017505 69017505 single base substitution C T intron_variant MELA-AU 15 69018154 69018154 single base substitution C A intron_variant MELA-AU 15 69018649 69018649 single base substitution C T 3_prime_UTR_variant MELA-AU 15 69018651 69018651 single base substitution C T 3_prime_UTR_variant MELA-AU 15 69019170 69019170 single base substitution C T 3_prime_UTR_variant MELA-AU 15 69019202 69019202 single base substitution A T 3_prime_UTR_variant MELA-AU 15 69019346 69019346 single base substitution C T 3_prime_UTR_variant MELA-AU 15 69019433 69019433 single base substitution G A 3_prime_UTR_variant MELA-AU 15 69019916 69019916 single base substitution C T 3_prime_UTR_variant MELA-AU 15 69020646 69020646 single base substitution G A downstream_gene_variant MELA-AU 15 69020685 69020685 single base substitution T C downstream_gene_variant MELA-AU 15 69020840 69020840 single base substitution C T downstream_gene_variant MELA-AU 15 69021320 69021320 single base substitution G A downstream_gene_variant MELA-AU 15 69021550 69021550 single base substitution C T downstream_gene_variant MELA-AU 15 69021599 69021599 single base substitution C T downstream_gene_variant MELA-AU 15 69021840 69021840 single base substitution C T downstream_gene_variant MELA-AU 15 69021855 69021855 single base substitution C T downstream_gene_variant MELA-AU 15 69022518 69022518 single base substitution C T downstream_gene_variant MELA-AU 15 69023465 69023465 single base substitution C T downstream_gene_variant MELA-AU 15 69023591 69023591 single base substitution C T downstream_gene_variant MELA-AU 15 69023736 69023736 single base substitution G A downstream_gene_variant MELA-AU 15 69023911 69023911 single base substitution G A downstream_gene_variant MELA-AU 15 69023933 69023933 single base substitution T C downstream_gene_variant MELA-AU 15 69024004 69024004 single base substitution C T downstream_gene_variant MELA-AU 15 69024086 69024086 single base substitution C T downstream_gene_variant MELA-AU 15 69024655 69024655 single base substitution C T downstream_gene_variant ORCA-IN 15 68869798 68869798 single base substitution C G upstream_gene_variant ORCA-IN 15 68876478 68876478 single base substitution G C intron_variant ORCA-IN 15 68886219 68886219 single base substitution G T intron_variant ORCA-IN 15 68887470 68887470 single base substitution C T intron_variant ORCA-IN 15 68928742 68928742 single base substitution C G intron_variant ORCA-IN 15 68959633 68959633 single base substitution G T intron_variant ORCA-IN 15 68974463 68974463 single base substitution C A intron_variant ORCA-IN 15 69011288 69011288 single base substitution G A intron_variant ORCA-IN 15 69015527 69015527 single base substitution C T intron_variant ORCA-IN 15 69016090 69016090 single base substitution G A intron_variant OV-AU 15 68866942 68866942 single base substitution A T upstream_gene_variant OV-AU 15 68867122 68867122 single base substitution C T upstream_gene_variant OV-AU 15 68871731 68871731 single base substitution T C intron_variant OV-AU 15 68875732 68875732 single base substitution T G intron_variant OV-AU 15 68875740 68875740 single base substitution C T intron_variant OV-AU 15 68877038 68877038 single base substitution G A intron_variant OV-AU 15 68880687 68880687 single base substitution T C intron_variant OV-AU 15 68899920 68899920 single base substitution A C intron_variant OV-AU 15 68900361 68900361 single base substitution G T intron_variant OV-AU 15 68904893 68904893 single base substitution G C intron_variant OV-AU 15 68904893 68904893 single base substitution G C upstream_gene_variant OV-AU 15 68909817 68909817 single base substitution C G intron_variant OV-AU 15 68911974 68911974 single base substitution G T intron_variant OV-AU 15 68921459 68921459 single base substitution A C intron_variant OV-AU 15 68921459 68921459 single base substitution A C upstream_gene_variant OV-AU 15 68928720 68928720 single base substitution T C intron_variant OV-AU 15 68931778 68931778 single base substitution G C intron_variant OV-AU 15 68936021 68936021 single base substitution G T intron_variant OV-AU 15 68948351 68948351 single base substitution C G intron_variant OV-AU 15 68949143 68949143 single base substitution G A intron_variant OV-AU 15 68951263 68951263 single base substitution T C intron_variant OV-AU 15 68968082 68968082 single base substitution C G intron_variant OV-AU 15 68971367 68971367 single base substitution G A intron_variant OV-AU 15 68975355 68975355 single base substitution C T intron_variant OV-AU 15 68981139 68981139 single base substitution T A intron_variant OV-AU 15 68986660 68986660 single base substitution A G intron_variant OV-AU 15 68988005 68988005 single base substitution A T intron_variant OV-AU 15 68988441 68988441 single base substitution T C intron_variant OV-AU 15 68993358 68993358 single base substitution A G intron_variant OV-AU 15 68994066 68994066 single base substitution G A intron_variant OV-AU 15 68995840 68995840 single base substitution A C intron_variant OV-AU 15 68999446 68999446 single base substitution C T intron_variant OV-AU 15 68999459 68999459 single base substitution C T intron_variant OV-AU 15 68999960 68999960 single base substitution G T intron_variant OV-AU 15 69000875 69000875 single base substitution T C intron_variant OV-AU 15 69003777 69003777 single base substitution C G intron_variant OV-AU 15 69006942 69006942 single base substitution C T synonymous_variant L265L 795C>T OV-AU 15 69006942 69006942 single base substitution C T synonymous_variant L270L 810C>T OV-AU 15 69006982 69006982 single base substitution A G missense_variant M279V 835A>G OV-AU 15 69006982 69006982 single base substitution A G missense_variant M284V 850A>G OV-AU 15 69008565 69008565 single base substitution A G intron_variant OV-AU 15 69012541 69012541 single base substitution T A intron_variant OV-AU 15 69013479 69013479 single base substitution C A intron_variant OV-AU 15 69016386 69016386 single base substitution C T intron_variant OV-AU 15 69017289 69017289 single base substitution C A intron_variant OV-US 15 69003075 69003075 single base substitution G A missense_variant R108Q 323G>A OV-US 15 69003075 69003075 single base substitution G A missense_variant R113Q 338G>A PACA-AU 15 68867062 68867062 single base substitution G A upstream_gene_variant PACA-AU 15 68867917 68867917 insertion of <=200bp - CCCC upstream_gene_variant PACA-AU 15 68868407 68868407 single base substitution G A upstream_gene_variant PACA-AU 15 68868449 68868449 single base substitution G A upstream_gene_variant PACA-AU 15 68869266 68869266 single base substitution C T upstream_gene_variant PACA-AU 15 68870057 68870057 single base substitution C T upstream_gene_variant PACA-AU 15 68874103 68874103 single base substitution G A intron_variant PACA-AU 15 68875980 68875980 single base substitution C A intron_variant PACA-AU 15 68879823 68879823 single base substitution G A intron_variant PACA-AU 15 68880082 68880082 single base substitution C G intron_variant PACA-AU 15 68880589 68880589 single base substitution A G intron_variant PACA-AU 15 68880823 68880823 single base substitution G A intron_variant PACA-AU 15 68883824 68883824 single base substitution G A intron_variant PACA-AU 15 68887580 68887580 single base substitution T G intron_variant PACA-AU 15 68889450 68889450 single base substitution C T intron_variant PACA-AU 15 68889972 68889972 single base substitution A T intron_variant PACA-AU 15 68893820 68893820 single base substitution G A intron_variant PACA-AU 15 68895087 68895087 single base substitution G A intron_variant PACA-AU 15 68895246 68895246 single base substitution G A intron_variant PACA-AU 15 68900871 68900871 single base substitution G A intron_variant PACA-AU 15 68904520 68904520 single base substitution G T intron_variant PACA-AU 15 68904520 68904520 single base substitution G T upstream_gene_variant PACA-AU 15 68906047 68906047 single base substitution G A intron_variant PACA-AU 15 68906047 68906047 single base substitution G A upstream_gene_variant PACA-AU 15 68906424 68906424 single base substitution G A intron_variant PACA-AU 15 68906424 68906424 single base substitution G A upstream_gene_variant PACA-AU 15 68906688 68906688 single base substitution C T intron_variant PACA-AU 15 68906688 68906688 single base substitution C T upstream_gene_variant PACA-AU 15 68908579 68908579 single base substitution A C intron_variant PACA-AU 15 68908579 68908579 single base substitution A C upstream_gene_variant PACA-AU 15 68909418 68909418 single base substitution A G intron_variant PACA-AU 15 68909701 68909701 single base substitution G A intron_variant PACA-AU 15 68910128 68910128 single base substitution T G intron_variant PACA-AU 15 68910153 68910153 single base substitution G A intron_variant PACA-AU 15 68913330 68913330 single base substitution C T intron_variant PACA-AU 15 68917013 68917013 single base substitution G T intron_variant PACA-AU 15 68919832 68919832 single base substitution C T intron_variant PACA-AU 15 68919832 68919832 single base substitution C T upstream_gene_variant PACA-AU 15 68921926 68921926 single base substitution G A intron_variant PACA-AU 15 68921926 68921926 single base substitution G A upstream_gene_variant PACA-AU 15 68922422 68922422 single base substitution G A intron_variant PACA-AU 15 68922422 68922422 single base substitution G A upstream_gene_variant PACA-AU 15 68927887 68927887 single base substitution G A intron_variant PACA-AU 15 68934113 68934113 single base substitution T C intron_variant PACA-AU 15 68935353 68935366 deletion of <=200bp CATACTGTATTTTT - intron_variant PACA-AU 15 68937509 68937509 single base substitution G A missense_variant R4H 11G>A PACA-AU 15 68937509 68937509 single base substitution G A missense_variant R9H 26G>A PACA-AU 15 68937657 68937657 single base substitution G A synonymous_variant E53E 159G>A PACA-AU 15 68937657 68937657 single base substitution G A synonymous_variant E58E 174G>A PACA-AU 15 68937682 68937682 single base substitution G A missense_variant V62I 184G>A PACA-AU 15 68937682 68937682 single base substitution G A missense_variant V67I 199G>A PACA-AU 15 68938269 68938269 single base substitution C G intron_variant PACA-AU 15 68939751 68939751 single base substitution G A intron_variant PACA-AU 15 68940921 68940921 single base substitution G A intron_variant PACA-AU 15 68944410 68944410 single base substitution C T intron_variant PACA-AU 15 68948996 68948996 single base substitution C T intron_variant PACA-AU 15 68951893 68951893 single base substitution A T intron_variant PACA-AU 15 68954366 68954366 insertion of <=200bp - AATT intron_variant PACA-AU 15 68959368 68959368 single base substitution C T intron_variant PACA-AU 15 68960456 68960456 single base substitution G A intron_variant PACA-AU 15 68961406 68961406 single base substitution G A intron_variant PACA-AU 15 68962407 68962407 single base substitution A G intron_variant PACA-AU 15 68962816 68962816 single base substitution G C intron_variant PACA-AU 15 68967308 68967308 single base substitution G T intron_variant PACA-AU 15 68970260 68970260 single base substitution A T intron_variant PACA-AU 15 68970322 68970322 single base substitution C T intron_variant PACA-AU 15 68975605 68975605 single base substitution C T intron_variant PACA-AU 15 68975726 68975726 single base substitution G A intron_variant PACA-AU 15 68976589 68976589 single base substitution C G intron_variant PACA-AU 15 68985264 68985264 single base substitution T C intron_variant PACA-AU 15 68986033 68986033 single base substitution G A intron_variant PACA-AU 15 68989410 68989410 single base substitution C T intron_variant PACA-AU 15 68989600 68989600 single base substitution C T intron_variant PACA-AU 15 68991792 68991792 single base substitution C T intron_variant PACA-AU 15 68998576 68998576 single base substitution C T intron_variant PACA-AU 15 69000656 69000656 single base substitution C T intron_variant PACA-AU 15 69001454 69001454 single base substitution C A intron_variant PACA-AU 15 69003152 69003152 single base substitution C T missense_variant R134C 400C>T PACA-AU 15 69003152 69003152 single base substitution C T missense_variant R139C 415C>T PACA-AU 15 69003479 69003479 single base substitution C T intron_variant PACA-AU 15 69006425 69006425 single base substitution C T intron_variant PACA-AU 15 69007778 69007778 single base substitution C G intron_variant PACA-AU 15 69015863 69015863 single base substitution G A intron_variant PACA-AU 15 69016353 69016353 single base substitution C G intron_variant PACA-AU 15 69018439 69018439 single base substitution G A 3_prime_UTR_variant PACA-AU 15 69024713 69024713 single base substitution T C downstream_gene_variant PACA-CA 15 68868299 68868299 single base substitution C T upstream_gene_variant PACA-CA 15 68868862 68868862 single base substitution C G upstream_gene_variant PACA-CA 15 68869833 68869833 single base substitution C T upstream_gene_variant PACA-CA 15 68871772 68871772 single base substitution C T intron_variant PACA-CA 15 68871816 68871816 single base substitution C T intron_variant PACA-CA 15 68882156 68882156 single base substitution C T intron_variant PACA-CA 15 68883999 68883999 single base substitution C T intron_variant PACA-CA 15 68884360 68884360 single base substitution C T intron_variant PACA-CA 15 68885676 68885676 single base substitution A G intron_variant PACA-CA 15 68885677 68885677 single base substitution G T intron_variant PACA-CA 15 68886882 68886882 single base substitution A G intron_variant PACA-CA 15 68888392 68888392 single base substitution G T intron_variant PACA-CA 15 68889677 68889677 single base substitution C A intron_variant PACA-CA 15 68890283 68890283 single base substitution G T intron_variant PACA-CA 15 68890284 68890284 single base substitution G T intron_variant PACA-CA 15 68890582 68890582 single base substitution G A intron_variant PACA-CA 15 68892802 68892802 single base substitution G A intron_variant PACA-CA 15 68894093 68894093 single base substitution T G intron_variant PACA-CA 15 68894575 68894575 single base substitution C T intron_variant PACA-CA 15 68894769 68894769 single base substitution C A intron_variant PACA-CA 15 68895703 68895703 deletion of <=200bp A - intron_variant PACA-CA 15 68896053 68896053 single base substitution G A intron_variant PACA-CA 15 68896932 68896932 single base substitution G T intron_variant PACA-CA 15 68897503 68897503 single base substitution A T intron_variant PACA-CA 15 68903685 68903685 single base substitution C A intron_variant PACA-CA 15 68904670 68904670 single base substitution G A intron_variant PACA-CA 15 68904670 68904670 single base substitution G A upstream_gene_variant PACA-CA 15 68905251 68905251 single base substitution G C intron_variant PACA-CA 15 68905251 68905251 single base substitution G C upstream_gene_variant PACA-CA 15 68907216 68907216 single base substitution C T intron_variant PACA-CA 15 68907216 68907216 single base substitution C T upstream_gene_variant PACA-CA 15 68909031 68909031 single base substitution G A intron_variant PACA-CA 15 68910367 68910367 single base substitution T C intron_variant PACA-CA 15 68914343 68914343 single base substitution G T intron_variant PACA-CA 15 68916504 68916504 single base substitution T C intron_variant PACA-CA 15 68916884 68916884 single base substitution T G intron_variant PACA-CA 15 68917626 68917626 single base substitution G A intron_variant PACA-CA 15 68919415 68919415 single base substitution C T intron_variant PACA-CA 15 68919415 68919415 single base substitution C T upstream_gene_variant PACA-CA 15 68921985 68921985 single base substitution T A intron_variant PACA-CA 15 68921985 68921985 single base substitution T A upstream_gene_variant PACA-CA 15 68925079 68925079 single base substitution G A intron_variant PACA-CA 15 68925725 68925725 single base substitution C A intron_variant PACA-CA 15 68927707 68927708 deletion of <=200bp CT - intron_variant PACA-CA 15 68935874 68935874 single base substitution G A intron_variant PACA-CA 15 68936106 68936106 single base substitution G A intron_variant PACA-CA 15 68936448 68936448 single base substitution T C intron_variant PACA-CA 15 68937171 68937171 single base substitution G T intron_variant PACA-CA 15 68938018 68938018 single base substitution T C intron_variant PACA-CA 15 68941282 68941282 single base substitution A T intron_variant PACA-CA 15 68941666 68941666 single base substitution A T intron_variant PACA-CA 15 68943593 68943593 single base substitution G A intron_variant PACA-CA 15 68945285 68945285 single base substitution T A intron_variant PACA-CA 15 68946332 68946332 single base substitution C T intron_variant PACA-CA 15 68946681 68946681 single base substitution C T intron_variant PACA-CA 15 68947521 68947521 single base substitution G A intron_variant PACA-CA 15 68947718 68947718 single base substitution T A intron_variant PACA-CA 15 68949476 68949476 single base substitution T A intron_variant PACA-CA 15 68949580 68949580 single base substitution G C intron_variant PACA-CA 15 68949581 68949581 single base substitution T A intron_variant PACA-CA 15 68950270 68950270 single base substitution T A intron_variant PACA-CA 15 68951540 68951540 single base substitution A C intron_variant PACA-CA 15 68951840 68951841 deletion of <=200bp CC - intron_variant PACA-CA 15 68951850 68951850 single base substitution G A intron_variant PACA-CA 15 68952065 68952065 single base substitution G A intron_variant PACA-CA 15 68952102 68952102 single base substitution G A intron_variant PACA-CA 15 68954369 68954369 single base substitution T A intron_variant PACA-CA 15 68954768 68954768 insertion of <=200bp - T intron_variant PACA-CA 15 68956065 68956065 insertion of <=200bp - A intron_variant PACA-CA 15 68956499 68956499 single base substitution T A intron_variant PACA-CA 15 68956723 68956723 single base substitution A C intron_variant PACA-CA 15 68957735 68957735 deletion of <=200bp T - intron_variant PACA-CA 15 68957762 68957777 deletion of <=200bp CTCATTGTGGTCTTTT - intron_variant PACA-CA 15 68965767 68965767 single base substitution G T intron_variant PACA-CA 15 68971262 68971262 single base substitution G A intron_variant PACA-CA 15 68973128 68973128 single base substitution C T intron_variant PACA-CA 15 68975303 68975303 single base substitution G A intron_variant PACA-CA 15 68978228 68978228 single base substitution G A intron_variant PACA-CA 15 68979553 68979553 single base substitution G T intron_variant PACA-CA 15 68987072 68987072 single base substitution C T intron_variant PACA-CA 15 68989553 68989553 insertion of <=200bp - TGGA intron_variant PACA-CA 15 68989663 68989663 single base substitution G T intron_variant PACA-CA 15 68990767 68990767 single base substitution G A intron_variant PACA-CA 15 68998498 68998498 single base substitution C G intron_variant PACA-CA 15 68999056 68999056 single base substitution C T intron_variant PACA-CA 15 69000894 69000894 single base substitution G A intron_variant PACA-CA 15 69002699 69002699 single base substitution T C intron_variant PACA-CA 15 69003177 69003177 single base substitution C A missense_variant P142H 425C>A PACA-CA 15 69003177 69003177 single base substitution C A missense_variant P147H 440C>A PACA-CA 15 69003575 69003575 single base substitution C A intron_variant PACA-CA 15 69006316 69006316 single base substitution T C missense_variant M229T 686T>C PACA-CA 15 69006316 69006316 single base substitution T C missense_variant M234T 701T>C PACA-CA 15 69006447 69006447 single base substitution T G intron_variant PACA-CA 15 69007722 69007722 single base substitution C T intron_variant PACA-CA 15 69007783 69007783 single base substitution C T intron_variant PACA-CA 15 69008476 69008476 single base substitution G A intron_variant PACA-CA 15 69008848 69008848 single base substitution C A intron_variant PACA-CA 15 69010228 69010228 single base substitution T C intron_variant PACA-CA 15 69013517 69013517 single base substitution G A intron_variant PACA-CA 15 69016362 69016362 single base substitution G T intron_variant PACA-CA 15 69022276 69022276 single base substitution T A downstream_gene_variant PACA-CA 15 69024601 69024601 single base substitution G A downstream_gene_variant PAEN-AU 15 68877131 68877131 single base substitution C T intron_variant PAEN-AU 15 68933911 68933911 single base substitution C A intron_variant PAEN-AU 15 69015517 69015517 single base substitution A G intron_variant PAEN-AU 15 69023382 69023382 single base substitution T G downstream_gene_variant PAEN-IT 15 68889724 68889724 single base substitution A G intron_variant PAEN-IT 15 68891501 68891501 single base substitution T C intron_variant PAEN-IT 15 68904204 68904204 single base substitution A G intron_variant PAEN-IT 15 68904204 68904204 single base substitution A G upstream_gene_variant PAEN-IT 15 68917530 68917530 single base substitution C G intron_variant PAEN-IT 15 68936406 68936406 single base substitution A T intron_variant PAEN-IT 15 68948056 68948056 single base substitution C A intron_variant PAEN-IT 15 69005143 69005143 single base substitution G T intron_variant PBCA-DE 15 68890738 68890738 single base substitution C T intron_variant PBCA-DE 15 68891808 68891808 single base substitution G A intron_variant PBCA-DE 15 68897824 68897824 single base substitution C A intron_variant PBCA-DE 15 68912094 68912095 deletion of <=200bp GT - intron_variant PBCA-DE 15 68916039 68916039 insertion of <=200bp - AGC intron_variant PBCA-DE 15 68924940 68924940 insertion of <=200bp - T intron_variant PBCA-DE 15 68942652 68942652 single base substitution C T intron_variant PBCA-DE 15 68951012 68951012 single base substitution C T intron_variant PBCA-DE 15 68956823 68956823 insertion of <=200bp - A intron_variant PBCA-DE 15 68961409 68961410 deletion of <=200bp AG - intron_variant PBCA-DE 15 68961842 68961842 single base substitution G A intron_variant PBCA-DE 15 68968768 68968768 insertion of <=200bp - CTGTCAGGA intron_variant PBCA-DE 15 68986904 68986904 insertion of <=200bp - AG intron_variant PBCA-DE 15 69011199 69011199 single base substitution A G intron_variant PRAD-CA 15 68879547 68879547 single base substitution A G intron_variant PRAD-CA 15 68880053 68880053 single base substitution C T intron_variant PRAD-CA 15 68886505 68886505 single base substitution G A intron_variant PRAD-CA 15 68889469 68889469 single base substitution G A intron_variant PRAD-CA 15 68896019 68896019 single base substitution C G intron_variant PRAD-CA 15 68896776 68896776 single base substitution G A intron_variant PRAD-CA 15 68940211 68940211 single base substitution G A intron_variant PRAD-CA 15 68951998 68951998 single base substitution C A intron_variant PRAD-CA 15 68953328 68953328 single base substitution C T intron_variant PRAD-CA 15 68955725 68955725 single base substitution T G intron_variant PRAD-CA 15 68992919 68992919 single base substitution C T intron_variant PRAD-CA 15 69003486 69003486 single base substitution C T intron_variant PRAD-CA 15 69007420 69007420 single base substitution A G intron_variant PRAD-CA 15 69010885 69010885 single base substitution C T intron_variant PRAD-CA 15 69015145 69015145 single base substitution G A intron_variant PRAD-UK 15 68870304 68870304 single base substitution C T upstream_gene_variant PRAD-UK 15 68892794 68892794 single base substitution T A intron_variant PRAD-UK 15 68896667 68896667 single base substitution C T intron_variant PRAD-UK 15 68911965 68911965 single base substitution A G intron_variant PRAD-UK 15 68912273 68912273 single base substitution C T intron_variant PRAD-UK 15 68937981 68937997 multiple base substitution (>=2bp and <=200bp) GGAGTGGAACACTCTGA GACCAAGTTCCAT intron_variant PRAD-UK 15 68951608 68951608 single base substitution G A intron_variant PRAD-UK 15 68977677 68977677 single base substitution G C intron_variant READ-US 15 68937625 68937625 single base substitution G A missense_variant V43I 127G>A READ-US 15 68937625 68937625 single base substitution G A missense_variant V48I 142G>A READ-US 15 69007637 69007637 single base substitution G A synonymous_variant P313P 939G>A READ-US 15 69007637 69007637 single base substitution G A synonymous_variant P318P 954G>A RECA-EU 15 68868508 68868508 single base substitution A G upstream_gene_variant RECA-EU 15 68868512 68868512 single base substitution A G upstream_gene_variant RECA-EU 15 68868866 68868866 single base substitution G T upstream_gene_variant RECA-EU 15 68868867 68868867 single base substitution A T upstream_gene_variant RECA-EU 15 68878139 68878139 single base substitution T C intron_variant RECA-EU 15 68891130 68891130 single base substitution C T intron_variant RECA-EU 15 68893994 68893994 single base substitution A G intron_variant RECA-EU 15 68895199 68895199 single base substitution A C intron_variant RECA-EU 15 68924744 68924744 single base substitution C A intron_variant RECA-EU 15 68932546 68932546 single base substitution C G intron_variant RECA-EU 15 68942800 68942800 single base substitution A G intron_variant RECA-EU 15 68947955 68947955 single base substitution T C intron_variant RECA-EU 15 68950038 68950038 single base substitution A T intron_variant RECA-EU 15 68966957 68966957 single base substitution G A intron_variant RECA-EU 15 68967922 68967922 single base substitution C A intron_variant RECA-EU 15 68971256 68971256 single base substitution G T intron_variant RECA-EU 15 68976644 68976644 single base substitution A T intron_variant RECA-EU 15 68979238 68979238 single base substitution C T intron_variant RECA-EU 15 68982722 68982722 single base substitution A T intron_variant RECA-EU 15 68982989 68982989 single base substitution T C intron_variant RECA-EU 15 68982993 68982993 single base substitution T C intron_variant RECA-EU 15 68982994 68982994 single base substitution T C intron_variant RECA-EU 15 68988689 68988689 single base substitution A T intron_variant RECA-EU 15 69014862 69014862 single base substitution A T intron_variant SKCA-BR 15 68872047 68872047 single base substitution A C intron_variant SKCA-BR 15 68872737 68872737 single base substitution C T intron_variant SKCA-BR 15 68877310 68877310 single base substitution T G intron_variant SKCA-BR 15 68878453 68878453 single base substitution G T intron_variant SKCA-BR 15 68879386 68879400 deletion of <=200bp TATACACACACACAC - intron_variant SKCA-BR 15 68883987 68883987 single base substitution T C intron_variant SKCA-BR 15 68887666 68887666 single base substitution C T intron_variant SKCA-BR 15 68888707 68888707 single base substitution T G intron_variant SKCA-BR 15 68889359 68889359 single base substitution C T intron_variant SKCA-BR 15 68893645 68893645 single base substitution A G intron_variant SKCA-BR 15 68894337 68894337 single base substitution G A intron_variant SKCA-BR 15 68896543 68896543 single base substitution T A intron_variant SKCA-BR 15 68898504 68898504 single base substitution C T intron_variant SKCA-BR 15 68898696 68898696 single base substitution C T intron_variant SKCA-BR 15 68904755 68904755 single base substitution A G intron_variant SKCA-BR 15 68904755 68904755 single base substitution A G upstream_gene_variant SKCA-BR 15 68910517 68910517 single base substitution C T intron_variant SKCA-BR 15 68917173 68917173 single base substitution C T intron_variant SKCA-BR 15 68919354 68919354 single base substitution C T intron_variant SKCA-BR 15 68919354 68919354 single base substitution C T upstream_gene_variant SKCA-BR 15 68923433 68923433 single base substitution T G intron_variant SKCA-BR 15 68923433 68923433 single base substitution T G upstream_gene_variant SKCA-BR 15 68932626 68932626 single base substitution C T intron_variant SKCA-BR 15 68932816 68932816 single base substitution A G intron_variant SKCA-BR 15 68933447 68933447 single base substitution A C intron_variant SKCA-BR 15 68934510 68934510 single base substitution G A intron_variant SKCA-BR 15 68935715 68935715 single base substitution T G intron_variant SKCA-BR 15 68935736 68935736 single base substitution A C intron_variant SKCA-BR 15 68942420 68942420 single base substitution G A intron_variant SKCA-BR 15 68942694 68942716 deletion of <=200bp CTAAAAAAAAAAAAAAAAAAAAA - intron_variant SKCA-BR 15 68943139 68943139 single base substitution C T intron_variant SKCA-BR 15 68944565 68944565 single base substitution G A intron_variant SKCA-BR 15 68945674 68945674 single base substitution C T intron_variant SKCA-BR 15 68945796 68945796 single base substitution T G intron_variant SKCA-BR 15 68945819 68945819 single base substitution T G intron_variant SKCA-BR 15 68946408 68946408 single base substitution G A intron_variant SKCA-BR 15 68949009 68949009 single base substitution A T intron_variant SKCA-BR 15 68949459 68949459 single base substitution G A intron_variant SKCA-BR 15 68949901 68949901 single base substitution C T intron_variant SKCA-BR 15 68949944 68949944 single base substitution G A intron_variant SKCA-BR 15 68954624 68954624 single base substitution A G intron_variant SKCA-BR 15 68956869 68956869 single base substitution C T intron_variant SKCA-BR 15 68966174 68966176 deletion of <=200bp TAA - intron_variant SKCA-BR 15 68966955 68966955 single base substitution T G intron_variant SKCA-BR 15 68967787 68967787 single base substitution G A intron_variant SKCA-BR 15 68972730 68972730 single base substitution C A intron_variant SKCA-BR 15 68973636 68973636 single base substitution T A intron_variant SKCA-BR 15 68976966 68976966 single base substitution A C intron_variant SKCA-BR 15 68978359 68978361 deletion of <=200bp GTT - intron_variant SKCA-BR 15 68978594 68978594 single base substitution C T intron_variant SKCA-BR 15 68983541 68983541 single base substitution G A intron_variant SKCA-BR 15 68983986 68983986 single base substitution G A intron_variant SKCA-BR 15 68984971 68984971 insertion of <=200bp - CTTT intron_variant SKCA-BR 15 68987779 68987779 single base substitution C T intron_variant SKCA-BR 15 68988147 68988147 single base substitution A G intron_variant SKCA-BR 15 68989421 68989421 single base substitution T C intron_variant SKCA-BR 15 68994927 68994927 single base substitution T G intron_variant SKCA-BR 15 68997775 68997775 insertion of <=200bp - CA intron_variant SKCA-BR 15 68999547 68999547 single base substitution A C intron_variant SKCA-BR 15 69000901 69000901 single base substitution C T intron_variant SKCA-BR 15 69003443 69003443 single base substitution T A intron_variant SKCA-BR 15 69005833 69005833 single base substitution C T intron_variant SKCA-BR 15 69006944 69006944 single base substitution C T missense_variant S266F 797C>T SKCA-BR 15 69006944 69006944 single base substitution C T missense_variant S271F 812C>T SKCA-BR 15 69007514 69007514 single base substitution T G intron_variant SKCA-BR 15 69012805 69012805 single base substitution C T intron_variant SKCA-BR 15 69013968 69013968 single base substitution C T intron_variant SKCA-BR 15 69015455 69015456 deletion of <=200bp CT - intron_variant SKCA-BR 15 69018797 69018797 single base substitution C T 3_prime_UTR_variant SKCA-BR 15 69020569 69020569 single base substitution G A downstream_gene_variant SKCA-BR 15 69022135 69022135 single base substitution C T downstream_gene_variant SKCM-US 15 68987482 68987482 single base substitution G A missense_variant G69S 205G>A SKCM-US 15 68987482 68987482 single base substitution G A missense_variant G74S 220G>A SKCM-US 15 68987559 68987559 single base substitution C T synonymous_variant I94I 282C>T SKCM-US 15 68987559 68987559 single base substitution C T synonymous_variant I99I 297C>T SKCM-US 15 68987586 68987586 single base substitution G A synonymous_variant E103E 309G>A SKCM-US 15 68987586 68987586 single base substitution G A synonymous_variant E108E 324G>A SKCM-US 15 69006963 69006963 single base substitution C T synonymous_variant F272F 816C>T SKCM-US 15 69006963 69006963 single base substitution C T synonymous_variant F277F 831C>T SKCM-US 15 69007569 69007569 single base substitution C T missense_variant R291W 871C>T SKCM-US 15 69007569 69007569 single base substitution C T missense_variant R296W 886C>T SKCM-US 15 69007647 69007647 single base substitution C T synonymous_variant L317L 949C>T SKCM-US 15 69007647 69007647 single base substitution C T synonymous_variant L322L 964C>T SKCM-US 15 69011130 69011130 single base substitution C T missense_variant S349F 1046C>T SKCM-US 15 69011130 69011130 single base substitution C T missense_variant S354F 1061C>T SKCM-US 15 69011509 69011509 single base substitution C T synonymous_variant Y364Y 1092C>T SKCM-US 15 69011509 69011509 single base substitution C T synonymous_variant Y369Y 1107C>T SKCM-US 15 69011843 69011843 single base substitution C T synonymous_variant V416V 1248C>T SKCM-US 15 69011843 69011843 single base substitution C T synonymous_variant V421V 1263C>T STAD-US 15 68987583 68987583 single base substitution G A synonymous_variant S102S 306G>A STAD-US 15 68987583 68987583 single base substitution G A synonymous_variant S107S 321G>A STAD-US 15 69004026 69004026 single base substitution G A missense_variant R205H 614G>A STAD-US 15 69004026 69004026 single base substitution G A missense_variant R210H 629G>A STAD-US 15 69011069 69011069 single base substitution G A missense_variant A329T 985G>A STAD-US 15 69011069 69011069 single base substitution G A missense_variant A334T 1000G>A STAD-US 15 69011084 69011084 single base substitution C T missense_variant R334C 1000C>T STAD-US 15 69011084 69011084 single base substitution C T missense_variant R339C 1015C>T STAD-US 15 69011527 69011527 single base substitution G T synonymous_variant T370T 1110G>T STAD-US 15 69011527 69011527 single base substitution G T synonymous_variant T375T 1125G>T STAD-US 15 69011561 69011561 single base substitution G T missense_variant G382C 1144G>T STAD-US 15 69011561 69011561 single base substitution G T missense_variant G387C 1159G>T STAD-US 15 69011828 69011828 single base substitution G T missense_variant K411N 1233G>T STAD-US 15 69011828 69011828 single base substitution G T missense_variant K416N 1248G>T THCA-SA 15 69018959 69018959 single base substitution A T 3_prime_UTR_variant UCEC-US 15 68937509 68937509 single base substitution G A missense_variant R4H 11G>A UCEC-US 15 68937509 68937509 single base substitution G A missense_variant R9H 26G>A UCEC-US 15 68937618 68937618 single base substitution C A missense_variant F40L 120C>A UCEC-US 15 68937618 68937618 single base substitution C A missense_variant F45L 135C>A UCEC-US 15 68937670 68937670 single base substitution G A missense_variant G58S 172G>A UCEC-US 15 68937670 68937670 single base substitution G A missense_variant G63S 187G>A UCEC-US 15 69018260 69018260 single base substitution C T missense_variant R459W 1375C>T UCEC-US 15 69018260 69018260 single base substitution C T missense_variant R464W 1390C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 71M COSM5595744 c.891C>G p.Y297* Substitution - Nonsense 15:68715235-68715235 + PCSI_0217_Pa_P_526 COSM4806859 c.701T>C p.M234T Substitution - Missense 15:68713977-68713977 + TCGA-DK-A3IU-01 COSM3794354 c.527T>C p.I176T Substitution - Missense 15:68711585-68711585 + 587224 COSM74240 c.338G>A p.R113Q Substitution - Missense 15:68710736-68710736 + TCGA-AZ-4315-01 COSM1374270 c.831C>A p.F277L Substitution - Missense 15:68714624-68714624 + RK016_C01 COSM1629662 c.217-9C>A p.? Unknown 15:68695131-68695131 + I2L-P19Tb-Tumor-Organoid COSM5362943 c.1167C>A p.N389K Substitution - Missense 15:68719230-68719230 + TCGA-D1-A15X-01 COSM964369 c.135C>A p.F45L Substitution - Missense 15:68645279-68645279 + TCGA-13-1499-01 COSM74240 c.338G>A p.R113Q Substitution - Missense 15:68710736-68710736 + TCGA-AA-A010-01 COSM274637 c.789C>T p.I263I Substitution - coding silent 15:68714582-68714582 + TCGA-EE-A2MN-06 COSM3503472 c.964C>T p.L322L Substitution - coding silent 15:68715308-68715308 + TCGA-AY-4071-01 COSM301354 c.199G>A p.V67I Substitution - Missense 15:68645343-68645343 + TCGA-BH-A0W4-01 COSM434215 c.508G>T p.G170C Substitution - Missense 15:68711566-68711566 + CHC1750T COSM4792609 c.412C>G p.R138G Substitution - Missense 15:68710810-68710810 + TCGA-EI-7002-01 COSM5079770 c.870+8G>T p.? Unknown 15:68714671-68714671 + TCGA-BR-6852-01 COSM4056501 c.321G>A p.S107S Substitution - coding silent 15:68695244-68695244 + CHC1754T COSM4792814 c.1420C>A p.R474S Substitution - Missense 15:68725951-68725951 + SC_9100 COSM5549673 c.1132G>A p.A378T Substitution - Missense 15:68719195-68719195 + 91T COSM108906 c.1354T>C p.L452L Substitution - coding silent 15:68725885-68725885 + 61 COSM5740383 c.613C>T p.R205C Substitution - Missense 15:68711671-68711671 + TCGA-EE-A180-06 COSM3503467 c.220G>A p.G74S Substitution - Missense 15:68695143-68695143 + LUAD-5V8LT COSM401572 c.435G>C p.W145C Substitution - Missense 15:68710833-68710833 + ESO-682 COSM1248988 c.177C>T p.S59S Substitution - coding silent 15:68645321-68645321 + sysucc-1116T COSM5483031 c.474C>T p.Y158Y Substitution - coding silent 15:68710872-68710872 + RK035_C01 COSM1629663 c.1081T>C p.S361P Substitution - Missense 15:68719144-68719144 + C086 COSM5529107 c.519G>A p.V173V Substitution - coding silent 15:68711577-68711577 + CSCC-27-T COSM4491423 c.37C>T p.R13C Substitution - Missense 15:68645181-68645181 + TCGA-CZ-5453-01 COSM471002 c.375C>T p.N125N Substitution - coding silent 15:68710773-68710773 + RKO COSM2257960 c.410G>A p.S137N Substitution - Missense 15:68710808-68710808 + ORL-48 COSM4596968 c.614G>A p.R205H Substitution - Missense 15:68711672-68711672 + HCC174T COSM3706700 c.782C>T p.P261L Substitution - Missense 15:68714575-68714575 + LP6005500-DNA_G02 COSM5951217 c.1142C>G p.P381R Substitution - Missense 15:68719205-68719205 + YUPAT COSM1708340 c.961G>A p.G321S Substitution - Missense 15:68715305-68715305 + TCGA-AA-A00L-01 COSM298551 c.315G>A p.S105S Substitution - coding silent 15:68695238-68695238 + HCT15 COSM1678554 c.463A>G p.S155G Substitution - Missense 15:68710861-68710861 + TCGA-AZ-4315-01 COSM274637 c.789C>T p.I263I Substitution - coding silent 15:68714582-68714582 + 7996 COSM5614260 c.320C>A p.S107* Substitution - Nonsense 15:68695243-68695243 + TCGA-AA-3510-01 COSM1248988 c.177C>T p.S59S Substitution - coding silent 15:68645321-68645321 + TCGA-AA-3492-01 COSM1374268 c.178G>A p.A60T Substitution - Missense 15:68645322-68645322 + TCGA-DK-A1AF-01 COSM964370 c.1390C>T p.R464W Substitution - Missense 15:68725921-68725921 + CSCC-35-T COSM4543886 c.345G>A p.W115* Substitution - Nonsense 15:68710743-68710743 + sysucc-880T COSM5462476 c.109A>G p.T37A Substitution - Missense 15:68645253-68645253 + LUAD-F00368 COSM341044 c.1190T>C p.L397S Substitution - Missense 15:68719431-68719431 + T19 COSM5342617 c.298G>A p.D100N Substitution - Missense 15:68695221-68695221 + CRC-02T COSM5454379 c.717G>A p.T239T Substitution - coding silent 15:68713993-68713993 + 8047575 COSM194522 c.26G>A p.R9H Substitution - Missense 15:68645170-68645170 + TCGA-33-4586-01 COSM701392 c.1231G>T p.A411S Substitution - Missense 15:68719472-68719472 + 1_PRE-TREATMENT COSM1718492 c.945C>T p.S315S Substitution - coding silent 15:68715289-68715289 + HN_62505 COSM127704 c.402C>T p.H134H Substitution - coding silent 15:68710800-68710800 + HCC174 COSM3706700 c.782C>T p.P261L Substitution - Missense 15:68714575-68714575 + CSCC-5-T COSM4546155 c.393G>A p.L131L Substitution - coding silent 15:68710791-68710791 + 7285 COSM5614261 c.556A>T p.M186L Substitution - Missense 15:68711614-68711614 + SNU-C2B COSM4651221 c.411C>T p.S137S Substitution - coding silent 15:68710809-68710809 + CHEWS031 COSM4578447 c.466G>T p.A156S Substitution - Missense 15:68710864-68710864 + S01366 COSM310291 c.1330C>T p.R444W Substitution - Missense 15:68725861-68725861 + TCGA-B0-5098-01 COSM1493454 c.1175C>T p.P392L Substitution - Missense 15:68719416-68719416 + TCGA-AP-A056-01 COSM964370 c.1390C>T p.R464W Substitution - Missense 15:68725921-68725921 + TCGA-A7-A5ZV-01 COSM1323873 c.1420C>T p.R474C Substitution - Missense 15:68725951-68725951 + B52 COSM1749291 c.413G>A p.R138Q Substitution - Missense 15:68710811-68710811 + CSCC-37-T COSM4448578 c.1080+1G>A p.? Unknown 15:68718811-68718811 + TCGA-D3-A5GO-06 COSM3503468 c.297C>T p.I99I Substitution - coding silent 15:68695220-68695220 + AOCS-123-1-7 COSM3981630 c.850A>G p.M284V Substitution - Missense 15:68714643-68714643 + CHC892T COSM4797598 c.1369G>A p.A457T Substitution - Missense 15:68725900-68725900 + SC_9068 COSM5561003 c.128A>G p.N43S Substitution - Missense 15:68645272-68645272 + TCGA-EE-A2MT-06 COSM3503471 c.886C>T p.R296W Substitution - Missense 15:68715230-68715230 + T3535 COSM4674235 c.470G>A p.G157D Substitution - Missense 15:68710868-68710868 + TCGA-CG-4442-01 COSM4056503 c.1015C>T p.R339C Substitution - Missense 15:68718745-68718745 + sysucc-1317T COSM5448763 c.871-7A>G p.? Unknown 15:68715208-68715208 + HCT-15 COSM1678554 c.463A>G p.S155G Substitution - Missense 15:68710861-68710861 + TCGA-B5-A11E-01 COSM416846 c.187G>A p.G63S Substitution - Missense 15:68645331-68645331 + TCGA-UB-A7MB-01 COSM555890 c.702G>T p.M234I Substitution - Missense 15:68713978-68713978 + CHC1754T COSM4792814 c.1420C>A p.R474S Substitution - Missense 15:68725951-68725951 + 431 COSM4433411 c.790G>A p.E264K Substitution - Missense 15:68714583-68714583 + 8068600 COSM3771878 c.174G>A p.E58E Substitution - coding silent 15:68645318-68645318 + KPOPBR-47-T COSM5963653 c.830T>A p.F277Y Substitution - Missense 15:68714623-68714623 + TCGA-HU-A4GQ-01 COSM4056504 c.1125G>T p.T375T Substitution - coding silent 15:68719188-68719188 + TCGA-G4-6628-01 COSM1374269 c.629G>A p.R210H Substitution - Missense 15:68711687-68711687 + 585258 COSM319641 c.18G>A p.M6I Substitution - Missense 15:68645162-68645162 + sysucc-1465T COSM5457988 c.314C>T p.S105L Substitution - Missense 15:68695237-68695237 + TCGA-B0-4823-01 COSM274637 c.789C>T p.I263I Substitution - coding silent 15:68714582-68714582 + LUAD-CHTN-MAD06-00668 COSM358945 c.870+1G>A p.? Unknown 15:68714664-68714664 + S01366 COSM310291 c.1330C>T p.R444W Substitution - Missense 15:68725861-68725861 + sysucc-311T COSM555889 c.895G>A p.E299K Substitution - Missense 15:68715239-68715239 + T263 COSM1248988 c.177C>T p.S59S Substitution - coding silent 15:68645321-68645321 + TCGA-AA-A00N-01 COSM274637 c.789C>T p.I263I Substitution - coding silent 15:68714582-68714582 + QC2-19-T2 COSM3503471 c.886C>T p.R296W Substitution - Missense 15:68715230-68715230 + TCGA-HU-A4GX-01 COSM4056502 c.1000G>A p.A334T Substitution - Missense 15:68718730-68718730 + TCGA-G3-A25U-01 COSM4911001 c.27T>C p.R9R Substitution - coding silent 15:68645171-68645171 + 35M COSM5580692 c.1372C>T p.Q458* Substitution - Nonsense 15:68725903-68725903 + TCGA-AG-3892-01 COSM256682 c.1187C>A p.S396Y Substitution - Missense 15:68719428-68719428 + TCGA-PD-A5DF-01 COSM4909771 c.1042G>T p.G348C Substitution - Missense 15:68718772-68718772 + Gp5D COSM2257982 c.1290C>T p.V430V Substitution - coding silent 15:68719531-68719531 + HCT8 COSM1678554 c.463A>G p.S155G Substitution - Missense 15:68710861-68710861 + 7996 COSM5616831 c.321G>C p.S107S Substitution - coding silent 15:68695244-68695244 + LUAD-74TBW COSM355059 c.354C>A p.P118P Substitution - coding silent 15:68710752-68710752 + TCGA-EE-A2MU-06 COSM3503474 c.1263C>T p.V421V Substitution - coding silent 15:68719504-68719504 + TCGA-AG-4022-01 COSM3420563 c.954G>A p.P318P Substitution - coding silent 15:68715298-68715298 + ESO-139 COSM1248987 c.154T>G p.F52V Substitution - Missense 15:68645298-68645298 + TCGA-13-0900-01 COSM79347 c.1092C>A p.Y364* Substitution - Nonsense 15:68719155-68719155 + TCGA-CD-5813-01 COSM4056506 c.1248G>T p.K416N Substitution - Missense 15:68719489-68719489 + TCGA-C8-A3M7-01 COSM3816635 c.638G>A p.R213H Substitution - Missense 15:68711696-68711696 + TCGA-EE-A2A2-06 COSM3503473 c.1061C>T p.S354F Substitution - Missense 15:68718791-68718791 + CHC1750T COSM4792609 c.412C>G p.R138G Substitution - Missense 15:68710810-68710810 + CCRF-CEM COSM1678555 c.706C>T p.R236W Substitution - Missense 15:68713982-68713982 + CRC-06T COSM5456503 c.404G>T p.G135V Substitution - Missense 15:68710802-68710802 + TCGA-33-4566-01 COSM701393 c.991G>T p.D331Y Substitution - Missense 15:68718721-68718721 + ZZUFHECRKL-G059T COSM5438272 c.380C>T p.T127M Substitution - Missense 15:68710778-68710778 + ESCC_40 COSM5454379 c.717G>A p.T239T Substitution - coding silent 15:68713993-68713993 + C086 COSM5529106 c.958A>G p.K320E Substitution - Missense 15:68715302-68715302 + 1_RESISTANT COSM1718492 c.945C>T p.S315S Substitution - coding silent 15:68715289-68715289 + TCGA-IN-8462-01 COSM1374269 c.629G>A p.R210H Substitution - Missense 15:68711687-68711687 + TCGA-BT-A20O-01 COSM416846 c.187G>A p.G63S Substitution - Missense 15:68645331-68645331 + PDA_023 COSM4999196 c.647A>G p.Q216R Substitution - Missense 15:68711705-68711705 + I2L-P19Tb-Tumor-Biopsy COSM5362943 c.1167C>A p.N389K Substitution - Missense 15:68719230-68719230 + TCGA-CA-6717-01 COSM256682 c.1187C>A p.S396Y Substitution - Missense 15:68719428-68719428 + T3262 COSM336484 c.171C>T p.T57T Substitution - coding silent 15:68645315-68645315 + YUWIA COSM5383743 c.351C>T p.I117I Substitution - coding silent 15:68710749-68710749 + ZZUFHECRKL-G075T COSM5440479 c.94G>A p.D32N Substitution - Missense 15:68645238-68645238 + pfg024T COSM1640328 c.1421G>A p.R474H Substitution - Missense 15:68725952-68725952 + TCGA-CG-5726-01 COSM4056505 c.1159G>T p.G387C Substitution - Missense 15:68719222-68719222 + 12T COSM107964 c.680G>A p.R227Q Substitution - Missense 15:68713956-68713956 + TCGA-AA-A010-01 COSM280087 c.726C>A p.V242V Substitution - coding silent 15:68714002-68714002 + RK122_C01 COSM3744724 c.511G>A p.E171K Substitution - Missense 15:68711569-68711569 + ESO-0167 COSM1248986 c.928C>T p.L310F Substitution - Missense 15:68715272-68715272 + BD223T COSM5496614 c.160G>A p.A54T Substitution - Missense 15:68645304-68645304 + TCGA-BF-A3DL-01 COSM2257973 c.1107C>T p.Y369Y Substitution - coding silent 15:68719170-68719170 + Pat_41_B COSM5849644 c.776C>T p.S259F Substitution - Missense 15:68714569-68714569 + 8049223 COSM3387011 c.415C>T p.R139C Substitution - Missense 15:68710813-68710813 + sysucc-274T COSM5438272 c.380C>T p.T127M Substitution - Missense 15:68710778-68710778 + TCGA-BT-A20O-01 COSM416845 c.187_188GG>AT p.G63>? Complex 15:68645331-68645332 + MSK-PCa6_organoid COSM1323873 c.1420C>T p.R474C Substitution - Missense 15:68725951-68725951 + PD18754a COSM2257950 c.93C>T p.F31F Substitution - coding silent 15:68645237-68645237 + LIM1215 COSM4253443 c.363G>T p.G121G Substitution - coding silent 15:68710761-68710761 + 8012346 COSM301354 c.199G>A p.V67I Substitution - Missense 15:68645343-68645343 + TCGA-29-1699-01 COSM1323873 c.1420C>T p.R474C Substitution - Missense 15:68725951-68725951 + Mx38 COSM32321 c.953C>T p.P318L Substitution - Missense 15:68715297-68715297 + LUAD-B02594 COSM336484 c.171C>T p.T57T Substitution - coding silent 15:68645315-68645315 + TCGA-BT-A20O-01 COSM416844 c.188G>T p.G63V Substitution - Missense 15:68645332-68645332 + Pat_41_B COSM5849645 c.793G>A p.E265K Substitution - Missense 15:68714586-68714586 + C106 COSM2257949 c.80G>A p.R27Q Substitution - Missense 15:68645224-68645224 + LUAD-B01811 COSM333998 c.669C>A p.H223Q Substitution - Missense 15:68713945-68713945 + CHC892T COSM4794408 c.1428C>T p.S476S Substitution - coding silent 15:68725959-68725959 + TCGA-33-4566-01 COSM701391 c.1370C>G p.A457G Substitution - Missense 15:68725901-68725901 + TCGA-DK-A2HX-01 COSM1301375 c.224G>A p.R75K Substitution - Missense 15:68695147-68695147 + B52-Tumor COSM1749291 c.413G>A p.R138Q Substitution - Missense 15:68710811-68710811 + AOCS-064-1-6 COSM3981629 c.810C>T p.L270L Substitution - coding silent 15:68714603-68714603 + CHC892T COSM4797598 c.1369G>A p.A457T Substitution - Missense 15:68725900-68725900 + TCGA-EE-A3AH-06 COSM3503470 c.831C>T p.F277F Substitution - coding silent 15:68714624-68714624 + TCGA-B5-A11E-01 COSM194522 c.26G>A p.R9H Substitution - Missense 15:68645170-68645170 + AOCS-064-3-3 COSM3981629 c.810C>T p.L270L Substitution - coding silent 15:68714603-68714603 + TCGA-AA-A010-01 COSM280088 c.970G>A p.V324I Substitution - Missense 15:68718700-68718700 + PCSI_0090_Pa_X COSM3377635 c.440C>A p.P147H Substitution - Missense 15:68710838-68710838 + TCGA-EE-A20F-06 COSM3503469 c.324G>A p.E108E Substitution - coding silent 15:68695247-68695247 + SC_9054 COSM194522 c.26G>A p.R9H Substitution - Missense 15:68645170-68645170 + TCGA-61-2012-01 COSM70281 c.1005C>G p.C335W Substitution - Missense 15:68718735-68718735 + BD121T COSM5515567 c.188G>A p.G63D Substitution - Missense 15:68645332-68645332 + TCGA-AG-3592-01 COSM3420562 c.142G>A p.V48I Substitution - Missense 15:68645286-68645286 + pfg053T COSM4756940 c.311C>T p.A104V Substitution - Missense 15:68695234-68695234 + CHC892T COSM4794408 c.1428C>T p.S476S Substitution - coding silent 15:68725959-68725959 + TCGA-BH-A0B6-01 COSM3744724 c.511G>A p.E171K Substitution - Missense 15:68711569-68711569 + DLD1 COSM1678554 c.463A>G p.S155G Substitution - Missense 15:68710861-68710861 + Pat_63_A COSM2257949 c.80G>A p.R27Q Substitution - Missense 15:68645224-68645224 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.551203;Hs.551204;Hs.551210;Hs.551213 15q23 605002

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.N222Tfs*4 c.665delA 15 69006276 RCCC A T Missense p.M186L c.556A>T 15 69003953 NSCLC C A IntronicSNV . c.16-13083C>A 15 68924416 DLBCL C A Missense p.A378E c.1133C>A 15 69011535 LUAD C A Nonsense p.S107* c.320C>A 15 68987582 NSCLC C A Nonsense p.Y364* c.1092C>A 15 69011494 OV C A Synonymous p.P412P c.1236C>A 15 69011816 LUAD C G IntronicSNV . c.16-17619C>G 15 68919880 PIA C G Missense p.C335W c.1005C>G 15 69011074 OV C T IntronicSNV . c.16-25100C>T 15 68912399 CLL C T Missense p.L310F c.928C>T 15 69007611 ESCA C T Missense p.P318L c.953C>T 15 69007636 COREAD C T Missense p.R296W c.886C>T 15 69007569 CM C T Missense p.R444W c.1330C>T 15 69018200 SCLC C T Missense p.R464W c.1390C>T 15 69018260 BLCA C T Missense p.S354F c.1061C>T 15 69011130 CM C T Synonymous p.F277F c.831C>T 15 69006963 CM C T Synonymous p.H134H c.402C>T 15 69003139 HNSC C T Synonymous p.H328H c.984C>T 15 69011053 HNSC C T Synonymous p.H41H c.123C>T 15 68937606 STAD C T Synonymous p.L322L c.964C>T 15 69007647 CM C T Synonymous p.N125N c.375C>T 15 69003112 RCCC C T Synonymous p.P358P c.1074C>T 15 69011143 CM C T Synonymous p.S59S c.177C>T 15 68937660 ESCA C T Synonymous p.V421V c.1263C>T 15 69011843 CM C T Synonymous p.Y369Y c.1107C>T 15 69011509 CM G A Missense p.A156T c.466G>A 15 69003203 HNSC G A Missense p.E299K c.895G>A 15 69007578 LUAD G A Missense p.G74S c.220G>A 15 68987482 CM G A Missense p.M6I c.18G>A 15 68937501 SCLC G A Missense p.R113Q c.338G>A 15 69003075 OV G A Missense p.R474H c.1421G>A 15 69018291 STAD G A Missense p.R75K c.224G>A 15 68987486 BLCA G A Missense p.V67I c.199G>A 15 68937682 COREAD G A Synonymous p.E108E c.324G>A 15 68987586 CM G A Synonymous p.S105S c.315G>A 15 68987577 COREAD G A Synonymous p.S107S c.321G>A 15 68987583 STAD G C Synonymous p.S107S c.321G>C 15 68987583 NSCLC GG AA Missense p.V83I c.246_247delinsAA 15 68987508 CM GG AT Missense p.G63I c.187_188delinsAT 15 68937670 BLCA G T Missense p.A411S c.1231G>T 15 69011811 LUSC G T Missense p.G170C c.508G>T 15 69003905 BRCA G T Missense p.G387C c.1159G>T 15 69011561 STAD G T Missense p.K416N c.1248G>T 15 69011828 STAD G T Missense p.M234I c.702G>T 15 69006317 LUAD G T Missense p.V393L c.1177G>T 15 69011757 LUAD G T Nonsense p.E454* c.1360G>T 15 69018230 CM T C Missense p.I176T c.527T>C 15 69003924 BLCA T C Missense p.S361P c.1081T>C 15 69011483 HC T G Missense p.F52V c.154T>G 15 68937637 ESCA