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 3 159995413 159995413 + Nonsense_Mutation SNP G G A TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr3:159995413G>A c.1882C>T c.(1882-1884)Cga>Tga p.R628* BLCA 3 160000352 160000352 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:160000352C>A c.1430G>T c.(1429-1431)aGa>aTa p.R477I BLCA 3 160021733 160021733 + Missense_Mutation SNP C C A TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr3:160021733C>A c.1121G>T c.(1120-1122)gGa>gTa p.G374V BLCA 3 160025478 160025478 + Missense_Mutation SNP G G A TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr3:160025478G>A c.1049C>T c.(1048-1050)tCa>tTa p.S350L BRCA 3 159976355 159976355 + Silent SNP T T A TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 g.chr3:159976355T>A c.2292A>T c.(2290-2292)tcA>tcT p.S764S BRCA 3 159997088 159997088 + Missense_Mutation SNP C C T TCGA-EW-A3E8-01B-11D-A243-09 TCGA-EW-A3E8-10A-01D-A243-09 g.chr3:159997088C>T c.1729G>A c.(1729-1731)Gat>Aat p.D577N BRCA 3 159997110 159997110 + Missense_Mutation SNP A A C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr3:159997110A>C c.1707T>G c.(1705-1707)aaT>aaG p.N569K BRCA 3 160000320 160000320 + Missense_Mutation SNP G G A TCGA-BH-A0C7-01B-11D-A10Y-09 TCGA-BH-A0C7-10A-01D-A110-09 g.chr3:160000320G>A c.1462C>T c.(1462-1464)Ctc>Ttc p.L488F BRCA 3 160095282 160095282 + Silent SNP T T A TCGA-B6-A0X4-01A-11D-A10G-09 TCGA-B6-A0X4-10A-01D-A10G-09 g.chr3:160095282T>A c.306A>T c.(304-306)gtA>gtT p.V102V CESC 3 159986236 159986236 + Missense_Mutation SNP C C T TCGA-EA-A3HQ-01A-11D-A20U-09 TCGA-EA-A3HQ-10A-01D-A20U-09 g.chr3:159986236C>T c.2188G>A c.(2188-2190)Gaa>Aaa p.E730K CESC 3 159995098 159995098 + Nonsense_Mutation SNP C C A TCGA-UC-A7PF-01A-11D-A351-09 TCGA-UC-A7PF-11A-31D-A351-09 g.chr3:159995098C>A c.2095G>T c.(2095-2097)Gaa>Taa p.E699* COAD 3 159995140 159995144 + Frame_Shift_Del DEL CAAGG CAAGG - TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr3:159995140_159995144delCAAGG c.2049_2053delCCTTG c.(2047-2055)ggccttgttfs p.LV684fs COAD 3 159996985 159996985 + Missense_Mutation SNP A A G TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr3:159996985A>G c.1832T>C c.(1831-1833)gTt>gCt p.V611A COAD 3 159997016 159997017 + Frame_Shift_Ins INS - - T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr3:159997016_159997017insT c.1800_1801insA c.(1798-1803)aaatggfs p.W601fs COAD 3 159998476 159998476 + Missense_Mutation SNP G G A TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr3:159998476G>A c.1643C>T c.(1642-1644)aCa>aTa p.T548I COAD 3 159998488 159998488 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:159998488A>G c.1631T>C c.(1630-1632)aTt>aCt p.I544T COAD 3 159998492 159998492 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr3:159998492C>T c.1627G>A c.(1627-1629)Gac>Aac p.D543N COAD 3 160037612 160037612 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:160037612A>G c.893T>C c.(892-894)gTg>gCg p.V298A COAD 3 160037702 160037702 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:160037702T>C c.803A>G c.(802-804)aAc>aGc p.N268S COAD 3 160073829 160073829 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:160073829T>C c.749A>G c.(748-750)cAt>cGt p.H250R COAD 3 160073919 160073919 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr3:160073919C>T c.659G>A c.(658-660)cGc>cAc p.R220H COAD 3 160083902 160083902 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:160083902C>T c.478G>A c.(478-480)Gaa>Aaa p.E160K COAD 3 160102353 160102353 + Splice_Site SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:160102353C>T c.36G>A c.(34-36)aaG>aaA p.K12K COAD 3 160102377 160102377 + Missense_Mutation SNP C C G TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr3:160102377C>G c.12G>C c.(10-12)aaG>aaC p.K4N COADREAD 3 159995140 159995144 + Frame_Shift_Del DEL CAAGG CAAGG - TCGA-AZ-6605-01A-11D-1835-10 TCGA-AZ-6605-11A-01D-1835-10 g.chr3:159995140_159995144delCAAGG c.2049_2053delCCTTG c.(2047-2055)ggccttgttfs p.LV684fs COADREAD 3 159995155 159995155 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:159995155G>A c.2038C>T c.(2038-2040)Ctt>Ttt p.L680F COADREAD 3 159996985 159996985 + Missense_Mutation SNP A A G TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr3:159996985A>G c.1832T>C c.(1831-1833)gTt>gCt p.V611A COADREAD 3 159996992 159996992 + Missense_Mutation SNP G G A TCGA-AG-4001-01A-02W-1073-09 TCGA-AG-4001-10A-01W-1073-09 g.chr3:159996992G>A c.1825C>T c.(1825-1827)Cgc>Tgc p.R609C COADREAD 3 159997001 159997001 + Silent SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:159997001T>G c.1816A>C c.(1816-1818)Aga>Cga p.R606R COADREAD 3 159997016 159997017 + Frame_Shift_Ins INS - - T TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr3:159997016_159997017insT c.1800_1801insA c.(1798-1803)aaatggfs p.W601fs COADREAD 3 159998476 159998476 + Missense_Mutation SNP G G A TCGA-AA-A02O-01A-21W-A096-10 TCGA-AA-A02O-11A-11W-A096-10 g.chr3:159998476G>A c.1643C>T c.(1642-1644)aCa>aTa p.T548I COADREAD 3 159998488 159998488 + Missense_Mutation SNP A A G TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr3:159998488A>G c.1631T>C c.(1630-1632)aTt>aCt p.I544T COADREAD 3 159998492 159998492 + Missense_Mutation SNP C C T TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr3:159998492C>T c.1627G>A c.(1627-1629)Gac>Aac p.D543N COADREAD 3 160021752 160021752 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:160021752T>G c.1102A>C c.(1102-1104)Ata>Cta p.I368L COADREAD 3 160037612 160037612 + Missense_Mutation SNP A A G TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:160037612A>G c.893T>C c.(892-894)gTg>gCg p.V298A COADREAD 3 160037702 160037702 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:160037702T>C c.803A>G c.(802-804)aAc>aGc p.N268S COADREAD 3 160073829 160073829 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:160073829T>C c.749A>G c.(748-750)cAt>cGt p.H250R COADREAD 3 160073831 160073831 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr3:160073831A>C c.747T>G c.(745-747)ttT>ttG p.F249L COADREAD 3 160073919 160073919 + Missense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr3:160073919C>T c.659G>A c.(658-660)cGc>cAc p.R220H COADREAD 3 160083902 160083902 + Missense_Mutation SNP C C T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr3:160083902C>T c.478G>A c.(478-480)Gaa>Aaa p.E160K COADREAD 3 160102353 160102353 + Splice_Site SNP C C T TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:160102353C>T c.36G>A c.(34-36)aaG>aaA p.K12K COADREAD 3 160102377 160102377 + Missense_Mutation SNP C C G TCGA-A6-4105-01A-02D-1771-10 TCGA-A6-4105-10A-01D-1771-10 g.chr3:160102377C>G c.12G>C c.(10-12)aaG>aaC p.K4N DLBC 3 159998476 159998476 + Missense_Mutation SNP G G A TCGA-FA-A4BB-01A-11D-A31X-10 TCGA-FA-A4BB-10A-01D-A31X-10 g.chr3:159998476G>A c.1643C>T c.(1642-1644)aCa>aTa p.T548I ESCA 3 160037578 160037578 + Silent SNP T T C TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr3:160037578T>C c.927A>G c.(925-927)caA>caG p.Q309Q ESCA 3 160099401 160099401 + Missense_Mutation SNP A A G TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr3:160099401A>G c.149T>C c.(148-150)aTa>aCa p.I50T GBM 3 160075296 160075296 + Missense_Mutation SNP C C T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr3:160075296C>T c.620G>A c.(619-621)gGt>gAt p.G207D GBM 3 160083930 160083930 + Silent SNP C C T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 g.chr3:160083930C>T c.450G>A c.(448-450)gtG>gtA p.V150V GBMLGG 3 160075296 160075296 + Missense_Mutation SNP C C T TCGA-06-0214-01A-02D-1491-08 TCGA-06-0214-10A-01D-1491-08 g.chr3:160075296C>T c.620G>A c.(619-621)gGt>gAt p.G207D GBMLGG 3 160083930 160083930 + Silent SNP C C T TCGA-28-2514-01A-02D-1494-08 TCGA-28-2514-10A-01D-1494-08 g.chr3:160083930C>T c.450G>A c.(448-450)gtG>gtA p.V150V HNSC 3 159976338 159976338 + Missense_Mutation SNP C C T TCGA-F7-A50I-01A-11D-A28R-08 TCGA-F7-A50I-10A-01D-A28U-08 g.chr3:159976338C>T c.2309G>A c.(2308-2310)aGc>aAc p.S770N HNSC 3 159995110 159995110 + Missense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr3:159995110G>A c.2083C>T c.(2083-2085)Ctc>Ttc p.L695F HNSC 3 159995223 159995223 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr3:159995223G>C c.1970C>G c.(1969-1971)tCt>tGt p.S657C HNSC 3 159996983 159996983 + Missense_Mutation SNP T T G TCGA-F7-A50J-01A-21D-A28R-08 TCGA-F7-A50J-10A-01D-A28U-08 g.chr3:159996983T>G c.1834A>C c.(1834-1836)Aag>Cag p.K612Q HNSC 3 159997002 159997002 + Silent SNP C C G TCGA-BA-6871-01A-11D-1870-08 TCGA-BA-6871-10A-01D-1870-08 g.chr3:159997002C>G c.1815G>C c.(1813-1815)gtG>gtC p.V605V HNSC 3 160000298 160000298 + Missense_Mutation SNP C C G TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr3:160000298C>G c.1484G>C c.(1483-1485)cGa>cCa p.R495P HNSC 3 160000392 160000392 + Missense_Mutation SNP A A C TCGA-UF-A71A-01A-22D-A34J-08 TCGA-UF-A71A-10A-01D-A34M-08 g.chr3:160000392A>C c.1390T>G c.(1390-1392)Ttg>Gtg p.L464V HNSC 3 160025459 160025459 + Silent SNP G G A TCGA-CV-7090-01A-11D-2012-08 TCGA-CV-7090-10A-01D-2013-08 g.chr3:160025459G>A c.1068C>T c.(1066-1068)taC>taT p.Y356Y HNSC 3 160025482 160025482 + Missense_Mutation SNP C C A TCGA-CN-4726-01A-01D-1434-08 TCGA-CN-4726-10A-01D-1434-08 g.chr3:160025482C>A c.1045G>T c.(1045-1047)Gtt>Ttt p.V349F HNSC 3 160037641 160037641 + Silent SNP A A G TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chr3:160037641A>G c.864T>C c.(862-864)tgT>tgC p.C288C HNSC 3 160073896 160073896 + Missense_Mutation SNP G G A TCGA-T2-A6X2-01A-12D-A34J-08 TCGA-T2-A6X2-10B-01D-A34M-08 g.chr3:160073896G>A c.682C>T c.(682-684)Cat>Tat p.H228Y HNSC 3 160095241 160095241 + Missense_Mutation SNP T T C TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr3:160095241T>C c.347A>G c.(346-348)tAt>tGt p.Y116C HNSC 3 160095273 160095273 + Silent SNP G G A TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr3:160095273G>A c.315C>T c.(313-315)caC>caT p.H105H HNSC 3 160099294 160099294 + Missense_Mutation SNP C C G TCGA-CR-7374-01A-11D-2012-08 TCGA-CR-7374-10A-01D-2013-08 g.chr3:160099294C>G c.256G>C c.(256-258)Gat>Cat p.D86H HNSC 3 160099295 160099295 + Silent SNP A A G TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 g.chr3:160099295A>G c.255T>C c.(253-255)tcT>tcC p.S85S HNSC 3 160099354 160099354 + Missense_Mutation SNP G G A TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr3:160099354G>A c.196C>T c.(196-198)Cca>Tca p.P66S HNSC 3 160099510 160099510 + Nonsense_Mutation SNP G G A TCGA-CN-4728-01A-01D-1434-08 TCGA-CN-4728-10A-01D-1434-08 g.chr3:160099510G>A c.40C>T c.(40-42)Caa>Taa p.Q14* KICH 3 160095234 160095234 + Silent SNP T T C TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr3:160095234T>C c.354A>G c.(352-354)ggA>ggG p.G118G KIPAN 3 160018773 160018773 + Frame_Shift_Del DEL A A - TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr3:160018773delA c.1213delT c.(1213-1215)tcafs p.S406fs KIPAN 3 160025463 160025463 + Missense_Mutation SNP C C A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr3:160025463C>A c.1064G>T c.(1063-1065)tGt>tTt p.C355F KIPAN 3 160095234 160095234 + Silent SNP T T C TCGA-KN-8436-01A-11D-2310-10 TCGA-KN-8436-11A-01D-2311-10 g.chr3:160095234T>C c.354A>G c.(352-354)ggA>ggG p.G118G KIRC 3 160025463 160025463 + Missense_Mutation SNP C C A TCGA-B4-5377-01A-01D-1501-10 TCGA-B4-5377-10A-01D-1501-10 g.chr3:160025463C>A c.1064G>T c.(1063-1065)tGt>tTt p.C355F KIRP 3 160018773 160018773 + Frame_Shift_Del DEL A A - TCGA-IA-A83W-01A-11D-A34Z-10 TCGA-IA-A83W-11A-11D-A34Z-10 g.chr3:160018773delA c.1213delT c.(1213-1215)tcafs p.S406fs LIHC 3 160037585 160037585 + Frame_Shift_Del DEL T T - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr3:160037585delT c.920delA c.(919-921)aatfs p.N307fs LIHC 3 160099508 160099508 + Missense_Mutation SNP T T G TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr3:160099508T>G c.42A>C c.(40-42)caA>caC p.Q14H LUAD 3 159976353 159976353 + Nonsense_Mutation SNP G G C TCGA-MN-A4N4-01A-12D-A24P-08 TCGA-MN-A4N4-10A-01D-A24P-08 g.chr3:159976353G>C c.2294C>G c.(2293-2295)tCa>tGa p.S765* LUAD 3 159998598 159998598 + Silent SNP T T A TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr3:159998598T>A c.1521A>T c.(1519-1521)acA>acT p.T507T LUAD 3 160099323 160099323 + Missense_Mutation SNP T T A TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr3:160099323T>A c.227A>T c.(226-228)cAg>cTg p.Q76L LUSC 3 159995188 159995188 + Missense_Mutation SNP T T G TCGA-43-3394-01A-01D-0983-08 TCGA-43-3394-10A-01D-0983-08 g.chr3:159995188T>G c.2005A>C c.(2005-2007)Agt>Cgt p.S669R LUSC 3 159997010 159997010 + Missense_Mutation SNP C C G TCGA-66-2787-01A-01D-0983-08 TCGA-66-2787-11A-01D-0983-08 g.chr3:159997010C>G c.1807G>C c.(1807-1809)Gat>Cat p.D603H LUSC 3 160003629 160003629 + Missense_Mutation SNP C C A TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr3:160003629C>A c.1343G>T c.(1342-1344)gGa>gTa p.G448V LUSC 3 160037573 160037573 + Missense_Mutation SNP G G C TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chr3:160037573G>C c.932C>G c.(931-933)aCa>aGa p.T311R LUSC 3 160102367 160102367 + Silent SNP A A G TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr3:160102367A>G c.22T>C c.(22-24)Tta>Cta p.L8L OV 3 159997077 159997077 + Silent SNP C C T TCGA-61-1740-01A-01W-0639-09 TCGA-61-1740-11A-01W-0639-09 g.chr3:159997077C>T c.1740G>A c.(1738-1740)ctG>ctA p.L580L PAAD 3 160073820 160073820 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:160073820C>T c.758G>A c.(757-759)cGc>cAc p.R253H PAAD 3 160073860 160073860 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:160073860C>T c.718G>A c.(718-720)Gat>Aat p.D240N PRAD 3 160037613 160037613 + Missense_Mutation SNP C C T TCGA-EJ-5527-01A-01D-1576-08 TCGA-EJ-5527-10A-01D-1577-08 g.chr3:160037613C>T c.892G>A c.(892-894)Gtg>Atg p.V298M READ 3 159995155 159995155 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:159995155G>A c.2038C>T c.(2038-2040)Ctt>Ttt p.L680F READ 3 159996992 159996992 + Missense_Mutation SNP G G A TCGA-AG-4001-01A-02W-1073-09 TCGA-AG-4001-10A-01W-1073-09 g.chr3:159996992G>A c.1825C>T c.(1825-1827)Cgc>Tgc p.R609C READ 3 159997001 159997001 + Silent SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:159997001T>G c.1816A>C c.(1816-1818)Aga>Cga p.R606R READ 3 160021752 160021752 + Missense_Mutation SNP T T G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:160021752T>G c.1102A>C c.(1102-1104)Ata>Cta p.I368L READ 3 160073831 160073831 + Missense_Mutation SNP A A C TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr3:160073831A>C c.747T>G c.(745-747)ttT>ttG p.F249L SARC 3 160083847 160083847 + Missense_Mutation SNP T T A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 g.chr3:160083847T>A c.533A>T c.(532-534)aAt>aTt p.N178I SKCM 3 159986273 159986273 + Silent SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr3:159986273A>C c.2151T>G c.(2149-2151)gcT>gcG p.A717A SKCM 3 159995214 159995214 + Missense_Mutation SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr3:159995214G>A c.1979C>T c.(1978-1980)tCa>tTa p.S660L SKCM 3 159997081 159997081 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:159997081G>A c.1736C>T c.(1735-1737)tCc>tTc p.S579F SKCM 3 160000378 160000378 + Silent SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr3:160000378C>T c.1404G>A c.(1402-1404)ctG>ctA p.L468L SKCM 3 160025566 160025566 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:160025566G>A c.961C>T c.(961-963)Cgt>Tgt p.R321C SKCM 3 160037581 160037581 + Missense_Mutation SNP A A T TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr3:160037581A>T c.924T>A c.(922-924)ttT>ttA p.F308L SKCM 3 160073835 160073835 + Missense_Mutation SNP G G A TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr3:160073835G>A c.743C>T c.(742-744)tCg>tTg p.S248L SKCM 3 160099326 160099326 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr3:160099326G>A c.224C>T c.(223-225)aCc>aTc p.T75I

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 3 160099304 160099304 single base substitution G A 5_prime_UTR_variant BLCA-CN 3 160099304 160099304 single base substitution G A downstream_gene_variant BLCA-CN 3 160099304 160099304 single base substitution G A exon_variant BLCA-CN 3 160099304 160099304 single base substitution G A intron_variant BLCA-CN 3 160099304 160099304 single base substitution G A synonymous_variant L82L 246C>T BLCA-CN 3 160099304 160099304 single base substitution G A upstream_gene_variant BLCA-US 3 159995413 159995413 single base substitution G A exon_variant BLCA-US 3 159995413 159995413 single base substitution G A stop_gained R491* 1471C>T BLCA-US 3 159995413 159995413 single base substitution G A stop_gained R628* 1882C>T BLCA-US 3 159995413 159995413 single base substitution G A upstream_gene_variant BLCA-US 3 160119741 160119741 single base substitution G A upstream_gene_variant BRCA-EU 3 159969819 159969819 single base substitution G A downstream_gene_variant BRCA-EU 3 159970026 159970026 single base substitution G C downstream_gene_variant BRCA-EU 3 159970134 159970134 single base substitution C T downstream_gene_variant BRCA-EU 3 159970829 159970829 single base substitution C T downstream_gene_variant BRCA-EU 3 159971443 159971443 single base substitution C T downstream_gene_variant BRCA-EU 3 159972628 159972628 single base substitution T C downstream_gene_variant BRCA-EU 3 159972726 159972726 single base substitution A T downstream_gene_variant BRCA-EU 3 159973176 159973178 deletion of <=200bp ATT - downstream_gene_variant BRCA-EU 3 159973715 159973715 single base substitution G A downstream_gene_variant BRCA-EU 3 159974376 159974376 single base substitution C A downstream_gene_variant BRCA-EU 3 159975089 159975089 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 159975089 159975089 single base substitution G A downstream_gene_variant BRCA-EU 3 159976049 159976049 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 159976049 159976049 single base substitution C G downstream_gene_variant BRCA-EU 3 159976049 159976049 single base substitution C G exon_variant BRCA-EU 3 159976740 159976740 deletion of <=200bp A - intron_variant BRCA-EU 3 159978064 159978064 single base substitution T C intron_variant BRCA-EU 3 159978809 159978809 single base substitution C G intron_variant BRCA-EU 3 159979088 159979088 single base substitution T A intron_variant BRCA-EU 3 159979746 159979746 single base substitution G A intron_variant BRCA-EU 3 159980841 159980841 single base substitution C T intron_variant BRCA-EU 3 159981379 159981379 single base substitution C T intron_variant BRCA-EU 3 159983962 159983962 single base substitution C A intron_variant BRCA-EU 3 159984080 159984080 single base substitution T C intron_variant BRCA-EU 3 159984621 159984621 single base substitution T G intron_variant BRCA-EU 3 159985562 159985562 single base substitution C T intron_variant BRCA-EU 3 159986943 159986943 single base substitution G C intron_variant BRCA-EU 3 159986943 159986943 single base substitution G C upstream_gene_variant BRCA-EU 3 159987840 159987840 single base substitution G C intron_variant BRCA-EU 3 159987840 159987840 single base substitution G C upstream_gene_variant BRCA-EU 3 159988958 159988958 single base substitution C G intron_variant BRCA-EU 3 159988958 159988958 single base substitution C G upstream_gene_variant BRCA-EU 3 159990526 159990526 single base substitution C G intron_variant BRCA-EU 3 159990526 159990526 single base substitution C G upstream_gene_variant BRCA-EU 3 159992663 159992663 single base substitution G A intron_variant BRCA-EU 3 159993065 159993065 deletion of <=200bp T - intron_variant BRCA-EU 3 159996177 159996177 single base substitution C A intron_variant BRCA-EU 3 159996177 159996177 single base substitution C A upstream_gene_variant BRCA-EU 3 159996497 159996497 single base substitution A C intron_variant BRCA-EU 3 159996497 159996497 single base substitution A C upstream_gene_variant BRCA-EU 3 159997159 159997159 deletion of <=200bp A - splice_region_variant BRCA-EU 3 159997159 159997159 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 159998377 159998377 single base substitution G C intron_variant BRCA-EU 3 159998377 159998377 single base substitution G C upstream_gene_variant BRCA-EU 3 159998953 159998953 single base substitution C T intron_variant BRCA-EU 3 159998953 159998953 single base substitution C T upstream_gene_variant BRCA-EU 3 159999750 159999750 single base substitution T C intron_variant BRCA-EU 3 159999750 159999750 single base substitution T C upstream_gene_variant BRCA-EU 3 160000943 160000943 single base substitution C G intron_variant BRCA-EU 3 160001014 160001014 single base substitution A T intron_variant BRCA-EU 3 160001504 160001504 single base substitution C T intron_variant BRCA-EU 3 160004830 160004830 single base substitution T A intron_variant BRCA-EU 3 160005909 160005909 single base substitution G A intron_variant BRCA-EU 3 160006901 160006901 single base substitution G T intron_variant BRCA-EU 3 160006918 160006918 deletion of <=200bp A - intron_variant BRCA-EU 3 160008539 160008539 single base substitution C T intron_variant BRCA-EU 3 160011585 160011585 single base substitution G C intron_variant BRCA-EU 3 160011681 160011681 single base substitution C G intron_variant BRCA-EU 3 160013214 160013214 single base substitution G C downstream_gene_variant BRCA-EU 3 160013214 160013214 single base substitution G C intron_variant BRCA-EU 3 160013782 160013782 single base substitution G C downstream_gene_variant BRCA-EU 3 160013782 160013782 single base substitution G C intron_variant BRCA-EU 3 160013935 160013935 single base substitution G T downstream_gene_variant BRCA-EU 3 160013935 160013935 single base substitution G T intron_variant BRCA-EU 3 160014339 160014339 single base substitution C T downstream_gene_variant BRCA-EU 3 160014339 160014339 single base substitution C T intron_variant BRCA-EU 3 160015398 160015398 single base substitution G T downstream_gene_variant BRCA-EU 3 160015398 160015398 single base substitution G T intron_variant BRCA-EU 3 160017026 160017026 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 3 160017026 160017026 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 160017026 160017026 deletion of <=200bp A - intron_variant BRCA-EU 3 160017937 160017937 single base substitution T C downstream_gene_variant BRCA-EU 3 160017937 160017937 single base substitution T C intron_variant BRCA-EU 3 160018051 160018051 single base substitution T A downstream_gene_variant BRCA-EU 3 160018051 160018051 single base substitution T A intron_variant BRCA-EU 3 160018542 160018542 single base substitution G A downstream_gene_variant BRCA-EU 3 160018542 160018542 single base substitution G A intron_variant BRCA-EU 3 160018619 160018619 single base substitution T C downstream_gene_variant BRCA-EU 3 160018619 160018619 single base substitution T C intron_variant BRCA-EU 3 160019869 160019869 single base substitution T G downstream_gene_variant BRCA-EU 3 160019869 160019869 single base substitution T G intron_variant BRCA-EU 3 160020760 160020760 single base substitution C A downstream_gene_variant BRCA-EU 3 160020760 160020760 single base substitution C A intron_variant BRCA-EU 3 160021047 160021047 single base substitution T C downstream_gene_variant BRCA-EU 3 160021047 160021047 single base substitution T C intron_variant BRCA-EU 3 160021774 160021774 single base substitution C T 3_prime_UTR_variant BRCA-EU 3 160021774 160021774 single base substitution C T exon_variant BRCA-EU 3 160021774 160021774 single base substitution C T synonymous_variant T223T 669G>A BRCA-EU 3 160021774 160021774 single base substitution C T synonymous_variant T360T 1080G>A BRCA-EU 3 160021774 160021774 single base substitution C T synonymous_variant T41T 123G>A BRCA-EU 3 160022998 160022998 single base substitution C T intron_variant BRCA-EU 3 160026895 160026895 single base substitution A G intron_variant BRCA-EU 3 160026895 160026895 single base substitution A G upstream_gene_variant BRCA-EU 3 160027774 160027774 single base substitution A G intron_variant BRCA-EU 3 160027774 160027774 single base substitution A G upstream_gene_variant BRCA-EU 3 160029509 160029509 single base substitution C G intron_variant BRCA-EU 3 160029509 160029509 single base substitution C G upstream_gene_variant BRCA-EU 3 160031546 160031546 single base substitution A G intron_variant BRCA-EU 3 160032786 160032786 single base substitution G A downstream_gene_variant BRCA-EU 3 160032786 160032786 single base substitution G A intron_variant BRCA-EU 3 160032841 160032841 single base substitution A G downstream_gene_variant BRCA-EU 3 160032841 160032841 single base substitution A G intron_variant BRCA-EU 3 160034574 160034574 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 160034574 160034574 deletion of <=200bp A - intron_variant BRCA-EU 3 160034575 160034575 single base substitution A G downstream_gene_variant BRCA-EU 3 160034575 160034575 single base substitution A G intron_variant BRCA-EU 3 160036820 160036820 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 160036820 160036820 deletion of <=200bp T - intron_variant BRCA-EU 3 160037003 160037003 single base substitution C G downstream_gene_variant BRCA-EU 3 160037003 160037003 single base substitution C G intron_variant BRCA-EU 3 160037807 160037807 single base substitution G A exon_variant BRCA-EU 3 160037807 160037807 single base substitution G A intron_variant BRCA-EU 3 160038252 160038252 single base substitution C T intron_variant BRCA-EU 3 160038252 160038252 single base substitution C T upstream_gene_variant BRCA-EU 3 160038755 160038755 single base substitution C T intron_variant BRCA-EU 3 160038755 160038755 single base substitution C T upstream_gene_variant BRCA-EU 3 160041350 160041350 single base substitution G C intron_variant BRCA-EU 3 160041350 160041350 single base substitution G C upstream_gene_variant BRCA-EU 3 160041455 160041455 single base substitution G C intron_variant BRCA-EU 3 160041455 160041455 single base substitution G C upstream_gene_variant BRCA-EU 3 160041468 160041468 single base substitution G T intron_variant BRCA-EU 3 160041468 160041468 single base substitution G T upstream_gene_variant BRCA-EU 3 160041479 160041479 single base substitution G A intron_variant BRCA-EU 3 160041479 160041479 single base substitution G A upstream_gene_variant BRCA-EU 3 160041503 160041503 single base substitution G C intron_variant BRCA-EU 3 160041503 160041503 single base substitution G C upstream_gene_variant BRCA-EU 3 160041695 160041695 single base substitution G C intron_variant BRCA-EU 3 160041695 160041695 single base substitution G C upstream_gene_variant BRCA-EU 3 160041723 160041723 single base substitution G C intron_variant BRCA-EU 3 160041723 160041723 single base substitution G C upstream_gene_variant BRCA-EU 3 160041807 160041807 single base substitution G C intron_variant BRCA-EU 3 160041807 160041807 single base substitution G C upstream_gene_variant BRCA-EU 3 160041825 160041825 single base substitution G C intron_variant BRCA-EU 3 160041825 160041825 single base substitution G C upstream_gene_variant BRCA-EU 3 160044110 160044110 single base substitution C A intron_variant BRCA-EU 3 160044461 160044461 single base substitution C T intron_variant BRCA-EU 3 160044996 160044996 single base substitution C G intron_variant BRCA-EU 3 160047625 160047625 single base substitution G C intron_variant BRCA-EU 3 160047869 160047869 single base substitution A G intron_variant BRCA-EU 3 160047905 160047905 single base substitution G A intron_variant BRCA-EU 3 160050046 160050046 single base substitution A C intron_variant BRCA-EU 3 160051304 160051304 single base substitution T C intron_variant BRCA-EU 3 160051604 160051604 single base substitution G C intron_variant BRCA-EU 3 160051712 160051712 single base substitution G A intron_variant BRCA-EU 3 160052736 160052736 single base substitution G T intron_variant BRCA-EU 3 160055185 160055185 single base substitution A T intron_variant BRCA-EU 3 160055748 160055748 single base substitution C G intron_variant BRCA-EU 3 160056033 160056033 single base substitution G C intron_variant BRCA-EU 3 160056641 160056641 single base substitution C T intron_variant BRCA-EU 3 160057454 160057454 single base substitution C T intron_variant BRCA-EU 3 160057888 160057888 single base substitution G C intron_variant BRCA-EU 3 160057892 160057892 single base substitution A T intron_variant BRCA-EU 3 160057990 160057990 deletion of <=200bp T - intron_variant BRCA-EU 3 160058580 160058580 single base substitution C G intron_variant BRCA-EU 3 160058584 160058584 deletion of <=200bp A - intron_variant BRCA-EU 3 160059518 160059518 single base substitution T A intron_variant BRCA-EU 3 160059880 160059880 single base substitution C G intron_variant BRCA-EU 3 160060924 160060924 deletion of <=200bp A - intron_variant BRCA-EU 3 160060992 160060992 single base substitution T C intron_variant BRCA-EU 3 160061821 160061821 single base substitution G A intron_variant BRCA-EU 3 160061898 160061898 single base substitution T C intron_variant BRCA-EU 3 160063314 160063314 deletion of <=200bp A - intron_variant BRCA-EU 3 160063719 160063719 single base substitution G C intron_variant BRCA-EU 3 160063885 160063885 single base substitution G T intron_variant BRCA-EU 3 160064771 160064771 single base substitution G A intron_variant BRCA-EU 3 160065004 160065004 single base substitution G C intron_variant BRCA-EU 3 160065516 160065516 single base substitution T C intron_variant BRCA-EU 3 160065544 160065544 single base substitution T C intron_variant BRCA-EU 3 160065550 160065550 single base substitution T G intron_variant BRCA-EU 3 160066047 160066047 single base substitution G A intron_variant BRCA-EU 3 160066105 160066105 single base substitution G A intron_variant BRCA-EU 3 160067294 160067294 single base substitution A C intron_variant BRCA-EU 3 160067709 160067709 single base substitution G A intron_variant BRCA-EU 3 160068639 160068639 single base substitution C A intron_variant BRCA-EU 3 160070199 160070199 single base substitution G A downstream_gene_variant BRCA-EU 3 160070199 160070199 single base substitution G A intron_variant BRCA-EU 3 160072722 160072722 single base substitution A C downstream_gene_variant BRCA-EU 3 160072722 160072722 single base substitution A C intron_variant BRCA-EU 3 160073209 160073209 single base substitution C G downstream_gene_variant BRCA-EU 3 160073209 160073209 single base substitution C G intron_variant BRCA-EU 3 160073743 160073743 single base substitution G A downstream_gene_variant BRCA-EU 3 160073743 160073743 single base substitution G A intron_variant BRCA-EU 3 160074117 160074117 single base substitution T G downstream_gene_variant BRCA-EU 3 160074117 160074117 single base substitution T G intron_variant BRCA-EU 3 160074493 160074493 single base substitution G C downstream_gene_variant BRCA-EU 3 160074493 160074493 single base substitution G C intron_variant BRCA-EU 3 160075055 160075055 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 160075055 160075055 deletion of <=200bp T - intron_variant BRCA-EU 3 160075644 160075644 single base substitution G A intron_variant BRCA-EU 3 160075644 160075644 single base substitution G A upstream_gene_variant BRCA-EU 3 160076785 160076785 single base substitution G A intron_variant BRCA-EU 3 160076785 160076785 single base substitution G A upstream_gene_variant BRCA-EU 3 160078236 160078236 single base substitution G C intron_variant BRCA-EU 3 160078236 160078236 single base substitution G C upstream_gene_variant BRCA-EU 3 160079017 160079017 single base substitution A T downstream_gene_variant BRCA-EU 3 160079017 160079017 single base substitution A T intron_variant BRCA-EU 3 160079017 160079017 single base substitution A T upstream_gene_variant BRCA-EU 3 160079370 160079370 single base substitution A C downstream_gene_variant BRCA-EU 3 160079370 160079370 single base substitution A C intron_variant BRCA-EU 3 160079370 160079370 single base substitution A C upstream_gene_variant BRCA-EU 3 160079992 160079992 single base substitution G A downstream_gene_variant BRCA-EU 3 160079992 160079992 single base substitution G A intron_variant BRCA-EU 3 160079992 160079992 single base substitution G A upstream_gene_variant BRCA-EU 3 160080067 160080067 single base substitution G A downstream_gene_variant BRCA-EU 3 160080067 160080067 single base substitution G A intron_variant BRCA-EU 3 160080067 160080067 single base substitution G A upstream_gene_variant BRCA-EU 3 160081126 160081126 single base substitution C A downstream_gene_variant BRCA-EU 3 160081126 160081126 single base substitution C A intron_variant BRCA-EU 3 160082751 160082751 single base substitution G C downstream_gene_variant BRCA-EU 3 160082751 160082751 single base substitution G C intron_variant BRCA-EU 3 160082791 160082791 single base substitution A T downstream_gene_variant BRCA-EU 3 160082791 160082791 single base substitution A T intron_variant BRCA-EU 3 160083382 160083382 single base substitution C T downstream_gene_variant BRCA-EU 3 160083382 160083382 single base substitution C T intron_variant BRCA-EU 3 160084901 160084901 deletion of <=200bp T - intron_variant BRCA-EU 3 160085949 160085949 single base substitution T A intron_variant BRCA-EU 3 160087586 160087586 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 160087586 160087586 deletion of <=200bp C - intron_variant BRCA-EU 3 160087822 160087822 single base substitution T A downstream_gene_variant BRCA-EU 3 160087822 160087822 single base substitution T A intron_variant BRCA-EU 3 160088215 160088215 single base substitution T C downstream_gene_variant BRCA-EU 3 160088215 160088215 single base substitution T C intron_variant BRCA-EU 3 160090600 160090600 single base substitution G C downstream_gene_variant BRCA-EU 3 160090600 160090600 single base substitution G C intron_variant BRCA-EU 3 160091938 160091938 single base substitution G T downstream_gene_variant BRCA-EU 3 160091938 160091938 single base substitution G T intron_variant BRCA-EU 3 160092130 160092130 single base substitution G A downstream_gene_variant BRCA-EU 3 160092130 160092130 single base substitution G A intron_variant BRCA-EU 3 160092495 160092495 single base substitution G C downstream_gene_variant BRCA-EU 3 160092495 160092495 single base substitution G C intron_variant BRCA-EU 3 160092881 160092881 single base substitution C G downstream_gene_variant BRCA-EU 3 160092881 160092881 single base substitution C G intron_variant BRCA-EU 3 160093030 160093030 single base substitution C T downstream_gene_variant BRCA-EU 3 160093030 160093030 single base substitution C T intron_variant BRCA-EU 3 160093043 160093043 single base substitution G T downstream_gene_variant BRCA-EU 3 160093043 160093043 single base substitution G T intron_variant BRCA-EU 3 160093280 160093280 single base substitution C T downstream_gene_variant BRCA-EU 3 160093280 160093280 single base substitution C T intron_variant BRCA-EU 3 160093306 160093306 single base substitution C T downstream_gene_variant BRCA-EU 3 160093306 160093306 single base substitution C T intron_variant BRCA-EU 3 160094261 160094261 single base substitution G C downstream_gene_variant BRCA-EU 3 160094261 160094261 single base substitution G C intron_variant BRCA-EU 3 160095654 160095654 single base substitution C T 5_prime_UTR_variant BRCA-EU 3 160095654 160095654 single base substitution C T downstream_gene_variant BRCA-EU 3 160095654 160095654 single base substitution C T intron_variant BRCA-EU 3 160095654 160095654 single base substitution C T upstream_gene_variant BRCA-EU 3 160096252 160096252 single base substitution G A downstream_gene_variant BRCA-EU 3 160096252 160096252 single base substitution G A intron_variant BRCA-EU 3 160096252 160096252 single base substitution G A upstream_gene_variant BRCA-EU 3 160097338 160097338 single base substitution G C downstream_gene_variant BRCA-EU 3 160097338 160097338 single base substitution G C intron_variant BRCA-EU 3 160097338 160097338 single base substitution G C upstream_gene_variant BRCA-EU 3 160097594 160097594 single base substitution T A downstream_gene_variant BRCA-EU 3 160097594 160097594 single base substitution T A intron_variant BRCA-EU 3 160097594 160097594 single base substitution T A upstream_gene_variant BRCA-EU 3 160097595 160097595 single base substitution C A downstream_gene_variant BRCA-EU 3 160097595 160097595 single base substitution C A intron_variant BRCA-EU 3 160097595 160097595 single base substitution C A upstream_gene_variant BRCA-EU 3 160098266 160098266 single base substitution G C downstream_gene_variant BRCA-EU 3 160098266 160098266 single base substitution G C intron_variant BRCA-EU 3 160098266 160098266 single base substitution G C upstream_gene_variant BRCA-EU 3 160099176 160099176 single base substitution G C downstream_gene_variant BRCA-EU 3 160099176 160099176 single base substitution G C intron_variant BRCA-EU 3 160099176 160099176 single base substitution G C upstream_gene_variant BRCA-EU 3 160100360 160100360 single base substitution G C downstream_gene_variant BRCA-EU 3 160100360 160100360 single base substitution G C intron_variant BRCA-EU 3 160101011 160101011 single base substitution A T downstream_gene_variant BRCA-EU 3 160101011 160101011 single base substitution A T intron_variant BRCA-EU 3 160103293 160103293 single base substitution G A intron_variant BRCA-EU 3 160103293 160103293 single base substitution G A upstream_gene_variant BRCA-EU 3 160103315 160103315 single base substitution G C intron_variant BRCA-EU 3 160103315 160103315 single base substitution G C upstream_gene_variant BRCA-EU 3 160103343 160103343 single base substitution A G intron_variant BRCA-EU 3 160103343 160103343 single base substitution A G upstream_gene_variant BRCA-EU 3 160104078 160104078 single base substitution G A intron_variant BRCA-EU 3 160104078 160104078 single base substitution G A upstream_gene_variant BRCA-EU 3 160104083 160104083 single base substitution A G intron_variant BRCA-EU 3 160104083 160104083 single base substitution A G upstream_gene_variant BRCA-EU 3 160105691 160105691 single base substitution G C intron_variant BRCA-EU 3 160105691 160105691 single base substitution G C upstream_gene_variant BRCA-EU 3 160105910 160105910 single base substitution T C intron_variant BRCA-EU 3 160105910 160105910 single base substitution T C upstream_gene_variant BRCA-EU 3 160106206 160106206 single base substitution C A intron_variant BRCA-EU 3 160106206 160106206 single base substitution C A upstream_gene_variant BRCA-EU 3 160107119 160107119 deletion of <=200bp T - intron_variant BRCA-EU 3 160108327 160108327 single base substitution C A intron_variant BRCA-EU 3 160108342 160108342 deletion of <=200bp A - intron_variant BRCA-EU 3 160108875 160108880 deletion of <=200bp GCTGCT - intron_variant BRCA-EU 3 160109391 160109391 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 160109391 160109391 single base substitution G A exon_variant BRCA-EU 3 160109391 160109391 single base substitution G A intron_variant BRCA-EU 3 160111074 160111074 single base substitution G T intron_variant BRCA-EU 3 160112528 160112528 single base substitution A G intron_variant BRCA-EU 3 160113139 160113139 single base substitution C A intron_variant BRCA-EU 3 160113140 160113140 single base substitution C A intron_variant BRCA-EU 3 160115010 160115010 single base substitution T A intron_variant BRCA-EU 3 160116190 160116190 deletion of <=200bp A - intron_variant BRCA-EU 3 160116937 160116937 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 160116937 160116937 single base substitution A C exon_variant BRCA-EU 3 160116937 160116937 single base substitution A C intron_variant BRCA-EU 3 160117047 160117047 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 160117047 160117047 single base substitution G A intron_variant BRCA-EU 3 160117047 160117047 single base substitution G A upstream_gene_variant BRCA-EU 3 160117474 160117474 single base substitution A C exon_variant BRCA-EU 3 160117474 160117474 single base substitution A C upstream_gene_variant BRCA-EU 3 160117690 160117690 single base substitution C A upstream_gene_variant BRCA-EU 3 160117877 160117877 single base substitution C T upstream_gene_variant BRCA-EU 3 160118060 160118060 single base substitution T C upstream_gene_variant BRCA-EU 3 160118703 160118703 single base substitution C T upstream_gene_variant BRCA-EU 3 160119205 160119205 single base substitution G T upstream_gene_variant BRCA-EU 3 160119659 160119659 deletion of <=200bp C - upstream_gene_variant BRCA-EU 3 160120021 160120021 single base substitution T A upstream_gene_variant BRCA-EU 3 160120292 160120292 single base substitution G C upstream_gene_variant BRCA-EU 3 160120482 160120482 single base substitution G C upstream_gene_variant BRCA-EU 3 160121361 160121361 single base substitution A G upstream_gene_variant BRCA-EU 3 160121526 160121526 single base substitution A G upstream_gene_variant BRCA-FR 3 159972119 159972119 single base substitution C T downstream_gene_variant BRCA-FR 3 159976049 159976049 single base substitution C G 3_prime_UTR_variant BRCA-FR 3 159976049 159976049 single base substitution C G downstream_gene_variant BRCA-FR 3 159976049 159976049 single base substitution C G exon_variant BRCA-FR 3 159983586 159983586 single base substitution T C intron_variant BRCA-FR 3 159987840 159987840 single base substitution G C intron_variant BRCA-FR 3 159987840 159987840 single base substitution G C upstream_gene_variant BRCA-FR 3 159997319 159997319 single base substitution A T intron_variant BRCA-FR 3 159997319 159997319 single base substitution A T upstream_gene_variant BRCA-FR 3 160000943 160000943 single base substitution C G intron_variant BRCA-FR 3 160018662 160018662 single base substitution T A downstream_gene_variant BRCA-FR 3 160018662 160018662 single base substitution T A intron_variant BRCA-FR 3 160020760 160020760 single base substitution C A downstream_gene_variant BRCA-FR 3 160020760 160020760 single base substitution C A intron_variant BRCA-FR 3 160029509 160029509 single base substitution C G intron_variant BRCA-FR 3 160029509 160029509 single base substitution C G upstream_gene_variant BRCA-FR 3 160041177 160041177 single base substitution G T intron_variant BRCA-FR 3 160041177 160041177 single base substitution G T upstream_gene_variant BRCA-FR 3 160041695 160041695 single base substitution G C intron_variant BRCA-FR 3 160041695 160041695 single base substitution G C upstream_gene_variant BRCA-FR 3 160041723 160041723 single base substitution G C intron_variant BRCA-FR 3 160041723 160041723 single base substitution G C upstream_gene_variant BRCA-FR 3 160041807 160041807 single base substitution G C intron_variant BRCA-FR 3 160041807 160041807 single base substitution G C upstream_gene_variant BRCA-FR 3 160041825 160041825 single base substitution G C intron_variant BRCA-FR 3 160041825 160041825 single base substitution G C upstream_gene_variant BRCA-FR 3 160044996 160044996 single base substitution C G intron_variant BRCA-FR 3 160052839 160052839 single base substitution T A intron_variant BRCA-FR 3 160056033 160056033 single base substitution G C intron_variant BRCA-FR 3 160058580 160058580 single base substitution C G intron_variant BRCA-FR 3 160065004 160065004 single base substitution G C intron_variant BRCA-FR 3 160073209 160073209 single base substitution C G downstream_gene_variant BRCA-FR 3 160073209 160073209 single base substitution C G intron_variant BRCA-FR 3 160080462 160080462 single base substitution G A downstream_gene_variant BRCA-FR 3 160080462 160080462 single base substitution G A intron_variant BRCA-FR 3 160081238 160081238 single base substitution T C downstream_gene_variant BRCA-FR 3 160081238 160081238 single base substitution T C intron_variant BRCA-FR 3 160082751 160082751 single base substitution G C downstream_gene_variant BRCA-FR 3 160082751 160082751 single base substitution G C intron_variant BRCA-FR 3 160092495 160092495 single base substitution G C downstream_gene_variant BRCA-FR 3 160092495 160092495 single base substitution G C intron_variant BRCA-FR 3 160098266 160098266 single base substitution G C downstream_gene_variant BRCA-FR 3 160098266 160098266 single base substitution G C intron_variant BRCA-FR 3 160098266 160098266 single base substitution G C upstream_gene_variant BRCA-FR 3 160100360 160100360 single base substitution G C downstream_gene_variant BRCA-FR 3 160100360 160100360 single base substitution G C intron_variant BRCA-FR 3 160108033 160108033 single base substitution C G intron_variant BRCA-FR 3 160117474 160117474 single base substitution A C exon_variant BRCA-FR 3 160117474 160117474 single base substitution A C upstream_gene_variant BRCA-FR 3 160118703 160118703 single base substitution C T upstream_gene_variant BRCA-FR 3 160118770 160118770 single base substitution G A upstream_gene_variant BRCA-UK 3 159970829 159970829 single base substitution C T downstream_gene_variant BRCA-UK 3 159984080 159984080 single base substitution T C intron_variant BRCA-UK 3 160057454 160057454 single base substitution C T intron_variant BRCA-UK 3 160062207 160062207 single base substitution C G intron_variant BRCA-UK 3 160073471 160073471 single base substitution G A downstream_gene_variant BRCA-UK 3 160073471 160073471 single base substitution G A intron_variant BRCA-UK 3 160075653 160075653 single base substitution C G intron_variant BRCA-UK 3 160075653 160075653 single base substitution C G upstream_gene_variant BRCA-UK 3 160075733 160075733 single base substitution C G intron_variant BRCA-UK 3 160075733 160075733 single base substitution C G upstream_gene_variant BRCA-UK 3 160092130 160092130 single base substitution G A downstream_gene_variant BRCA-UK 3 160092130 160092130 single base substitution G A intron_variant BRCA-UK 3 160095275 160095275 single base substitution G C 3_prime_UTR_variant BRCA-UK 3 160095275 160095275 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-UK 3 160095275 160095275 single base substitution G C downstream_gene_variant BRCA-UK 3 160095275 160095275 single base substitution G C exon_variant BRCA-UK 3 160095275 160095275 single base substitution G C missense_variant H105D 313C>G BRCA-UK 3 160095275 160095275 single base substitution G C upstream_gene_variant BRCA-UK 3 160112959 160112980 deletion of <=200bp TAAGATCACCATTCTCCACACT - intron_variant BRCA-UK 3 160121700 160121700 single base substitution C T upstream_gene_variant BRCA-US 3 159976355 159976355 single base substitution T A exon_variant BRCA-US 3 159976355 159976355 single base substitution T A synonymous_variant S627S 1881A>T BRCA-US 3 159976355 159976355 single base substitution T A synonymous_variant S764S 2292A>T BRCA-US 3 159997088 159997088 single base substitution C T exon_variant BRCA-US 3 159997088 159997088 single base substitution C T missense_variant D440N 1318G>A BRCA-US 3 159997088 159997088 single base substitution C T missense_variant D577N 1729G>A BRCA-US 3 159997088 159997088 single base substitution C T upstream_gene_variant BRCA-US 3 159997110 159997110 single base substitution A C exon_variant BRCA-US 3 159997110 159997110 single base substitution A C missense_variant N432K 1296T>G BRCA-US 3 159997110 159997110 single base substitution A C missense_variant N569K 1707T>G BRCA-US 3 159997110 159997110 single base substitution A C upstream_gene_variant BRCA-US 3 160000320 160000320 single base substitution G A exon_variant BRCA-US 3 160000320 160000320 single base substitution G A missense_variant L351F 1051C>T BRCA-US 3 160000320 160000320 single base substitution G A missense_variant L488F 1462C>T BRCA-US 3 160095282 160095282 single base substitution T A 3_prime_UTR_variant BRCA-US 3 160095282 160095282 single base substitution T A 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 3 160095282 160095282 single base substitution T A downstream_gene_variant BRCA-US 3 160095282 160095282 single base substitution T A exon_variant BRCA-US 3 160095282 160095282 single base substitution T A synonymous_variant V102V 306A>T BRCA-US 3 160095282 160095282 single base substitution T A upstream_gene_variant BRCA-US 3 160119723 160119723 single base substitution G C upstream_gene_variant BRCA-US 3 160122246 160122246 single base substitution G A upstream_gene_variant BRCA-US 3 160122611 160122611 single base substitution G T upstream_gene_variant BTCA-JP 3 159995329 159995329 insertion of <=200bp - A intron_variant BTCA-JP 3 159995329 159995329 insertion of <=200bp - A upstream_gene_variant BTCA-JP 3 159997159 159997159 deletion of <=200bp A - splice_region_variant BTCA-JP 3 159997159 159997159 deletion of <=200bp A - upstream_gene_variant BTCA-JP 3 160017026 160017027 deletion of <=200bp AA - 3_prime_UTR_variant BTCA-JP 3 160017026 160017027 deletion of <=200bp AA - downstream_gene_variant BTCA-JP 3 160017026 160017027 deletion of <=200bp AA - intron_variant BTCA-JP 3 160037773 160037773 single base substitution T A exon_variant BTCA-JP 3 160037773 160037773 single base substitution T A intron_variant BTCA-JP 3 160073750 160073750 single base substitution A G downstream_gene_variant BTCA-JP 3 160073750 160073750 single base substitution A G intron_variant BTCA-JP 3 160083801 160083801 single base substitution G A downstream_gene_variant BTCA-JP 3 160083801 160083801 single base substitution G A intron_variant BTCA-JP 3 160083954 160083954 single base substitution A C intron_variant BTCA-JP 3 160119749 160119749 single base substitution G A upstream_gene_variant BTCA-JP 3 160122336 160122336 deletion of <=200bp T - upstream_gene_variant CESC-US 3 159986236 159986236 single base substitution C T exon_variant CESC-US 3 159986236 159986236 single base substitution C T missense_variant E593K 1777G>A CESC-US 3 159986236 159986236 single base substitution C T missense_variant E730K 2188G>A CESC-US 3 159995098 159995098 single base substitution C A exon_variant CESC-US 3 159995098 159995098 single base substitution C A stop_gained E562* 1684G>T CESC-US 3 159995098 159995098 single base substitution C A stop_gained E699* 2095G>T CESC-US 3 160117444 160117444 single base substitution G C exon_variant CESC-US 3 160117444 160117444 single base substitution G C upstream_gene_variant CLLE-ES 3 159980589 159980589 single base substitution T C intron_variant CLLE-ES 3 159997285 159997285 single base substitution T A intron_variant CLLE-ES 3 159997285 159997285 single base substitution T A upstream_gene_variant CLLE-ES 3 160005521 160005521 deletion of <=200bp C - intron_variant CLLE-ES 3 160014270 160014270 single base substitution T C downstream_gene_variant CLLE-ES 3 160014270 160014270 single base substitution T C intron_variant CLLE-ES 3 160018827 160018827 single base substitution G T downstream_gene_variant CLLE-ES 3 160018827 160018827 single base substitution G T exon_variant CLLE-ES 3 160018827 160018827 single base substitution G T missense_variant L250I 748C>A CLLE-ES 3 160018827 160018827 single base substitution G T missense_variant L387I 1159C>A CLLE-ES 3 160018827 160018827 single base substitution G T missense_variant L68I 202C>A CLLE-ES 3 160030659 160030659 insertion of <=200bp - T intron_variant CLLE-ES 3 160056764 160056764 single base substitution A T intron_variant CLLE-ES 3 160063584 160063584 single base substitution A T intron_variant CLLE-ES 3 160066354 160066354 single base substitution G A intron_variant CLLE-ES 3 160075183 160075183 single base substitution T C downstream_gene_variant CLLE-ES 3 160075183 160075183 single base substitution T C intron_variant CLLE-ES 3 160098494 160098494 single base substitution T C downstream_gene_variant CLLE-ES 3 160098494 160098494 single base substitution T C intron_variant CLLE-ES 3 160098494 160098494 single base substitution T C upstream_gene_variant CLLE-ES 3 160112544 160112544 single base substitution G A intron_variant COAD-US 3 159995140 159995144 deletion of <=200bp CAAGG - exon_variant COAD-US 3 159995140 159995144 deletion of <=200bp CAAGG - frameshift_variant GLV546 COAD-US 3 159995140 159995144 deletion of <=200bp CAAGG - frameshift_variant GLV683 COAD-US 3 159997061 159997061 single base substitution T A exon_variant COAD-US 3 159997061 159997061 single base substitution T A missense_variant T449S 1345A>T COAD-US 3 159997061 159997061 single base substitution T A missense_variant T586S 1756A>T COAD-US 3 159997061 159997061 single base substitution T A upstream_gene_variant COAD-US 3 160000404 160000404 deletion of <=200bp A - splice_region_variant COAD-US 3 160037612 160037612 single base substitution A G 3_prime_UTR_variant COAD-US 3 160037612 160037612 single base substitution A G downstream_gene_variant COAD-US 3 160037612 160037612 single base substitution A G exon_variant COAD-US 3 160037612 160037612 single base substitution A G missense_variant V161A 482T>C COAD-US 3 160037612 160037612 single base substitution A G missense_variant V298A 893T>C COAD-US 3 160073829 160073829 single base substitution T C 3_prime_UTR_variant COAD-US 3 160073829 160073829 single base substitution T C downstream_gene_variant COAD-US 3 160073829 160073829 single base substitution T C exon_variant COAD-US 3 160073829 160073829 single base substitution T C missense_variant H113R 338A>G COAD-US 3 160073829 160073829 single base substitution T C missense_variant H250R 749A>G COAD-US 3 160083902 160083902 single base substitution C T exon_variant COAD-US 3 160083902 160083902 single base substitution C T intron_variant COAD-US 3 160083902 160083902 single base substitution C T missense_variant E160K 478G>A COAD-US 3 160083902 160083902 single base substitution C T missense_variant E23K 67G>A COAD-US 3 160102377 160102377 single base substitution C G 5_prime_UTR_variant COAD-US 3 160102377 160102377 single base substitution C G downstream_gene_variant COAD-US 3 160102377 160102377 single base substitution C G exon_variant COAD-US 3 160102377 160102377 single base substitution C G intron_variant COAD-US 3 160102377 160102377 single base substitution C G missense_variant K4N 12G>C COAD-US 3 160102377 160102377 single base substitution C G splice_region_variant COAD-US 3 160102377 160102377 single base substitution C G upstream_gene_variant COAD-US 3 160119856 160119856 single base substitution A G upstream_gene_variant COCA-CN 3 160017145 160017145 single base substitution A C downstream_gene_variant COCA-CN 3 160017145 160017145 single base substitution A C intron_variant COCA-CN 3 160025566 160025566 single base substitution G A 3_prime_UTR_variant COCA-CN 3 160025566 160025566 single base substitution G A exon_variant COCA-CN 3 160025566 160025566 single base substitution G A missense_variant R184C 550C>T COCA-CN 3 160025566 160025566 single base substitution G A missense_variant R2C 4C>T COCA-CN 3 160025566 160025566 single base substitution G A missense_variant R321C 961C>T COCA-CN 3 160061701 160061701 single base substitution G T intron_variant COCA-CN 3 160083845 160083845 single base substitution C A downstream_gene_variant COCA-CN 3 160083845 160083845 single base substitution C A intron_variant COCA-CN 3 160083845 160083845 single base substitution C A missense_variant A179S 535G>T COCA-CN 3 160083845 160083845 single base substitution C A missense_variant A42S 124G>T EOPC-DE 3 159998276 159998276 single base substitution C T intron_variant EOPC-DE 3 159998276 159998276 single base substitution C T upstream_gene_variant EOPC-DE 3 160045338 160045338 single base substitution C T intron_variant EOPC-DE 3 160048996 160048996 single base substitution A T intron_variant EOPC-DE 3 160075789 160075789 single base substitution T C intron_variant EOPC-DE 3 160075789 160075789 single base substitution T C upstream_gene_variant EOPC-DE 3 160109506 160109506 single base substitution C T intron_variant ESAD-UK 3 159970971 159970971 single base substitution G A downstream_gene_variant ESAD-UK 3 159972412 159972412 single base substitution C G downstream_gene_variant ESAD-UK 3 159972726 159972726 single base substitution A T downstream_gene_variant ESAD-UK 3 159974569 159974569 single base substitution G A downstream_gene_variant ESAD-UK 3 159975090 159975090 insertion of <=200bp - TA 3_prime_UTR_variant ESAD-UK 3 159975090 159975090 insertion of <=200bp - TA downstream_gene_variant ESAD-UK 3 159975404 159975404 single base substitution A C 3_prime_UTR_variant ESAD-UK 3 159975404 159975404 single base substitution A C downstream_gene_variant ESAD-UK 3 159976061 159976061 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 159976061 159976061 single base substitution C T downstream_gene_variant ESAD-UK 3 159976061 159976061 single base substitution C T exon_variant ESAD-UK 3 159978779 159978779 single base substitution C T intron_variant ESAD-UK 3 159979051 159979051 single base substitution C T intron_variant ESAD-UK 3 159979706 159979706 single base substitution C T intron_variant ESAD-UK 3 159979775 159979775 single base substitution C T intron_variant ESAD-UK 3 159980889 159980889 single base substitution A C intron_variant ESAD-UK 3 159981630 159981630 single base substitution A T intron_variant ESAD-UK 3 159984777 159984777 single base substitution A C intron_variant ESAD-UK 3 159985355 159985355 single base substitution A C intron_variant ESAD-UK 3 159985854 159985854 single base substitution C T intron_variant ESAD-UK 3 159987648 159987648 single base substitution A C intron_variant ESAD-UK 3 159987648 159987648 single base substitution A C upstream_gene_variant ESAD-UK 3 159988594 159988594 deletion of <=200bp T - intron_variant ESAD-UK 3 159988594 159988594 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 159990339 159990339 single base substitution C T intron_variant ESAD-UK 3 159990339 159990339 single base substitution C T upstream_gene_variant ESAD-UK 3 159990659 159990659 single base substitution T G intron_variant ESAD-UK 3 159990659 159990659 single base substitution T G upstream_gene_variant ESAD-UK 3 159990976 159990976 single base substitution T G intron_variant ESAD-UK 3 159990976 159990976 single base substitution T G upstream_gene_variant ESAD-UK 3 159995587 159995587 deletion of <=200bp A - intron_variant ESAD-UK 3 159995587 159995587 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 159996492 159996492 single base substitution T A intron_variant ESAD-UK 3 159996492 159996492 single base substitution T A upstream_gene_variant ESAD-UK 3 159997757 159997757 deletion of <=200bp T - intron_variant ESAD-UK 3 159997757 159997757 deletion of <=200bp T - upstream_gene_variant ESAD-UK 3 159998188 159998188 single base substitution G A intron_variant ESAD-UK 3 159998188 159998188 single base substitution G A upstream_gene_variant ESAD-UK 3 159998932 159998932 single base substitution G A intron_variant ESAD-UK 3 159998932 159998932 single base substitution G A upstream_gene_variant ESAD-UK 3 160000100 160000101 deletion of <=200bp TT - intron_variant ESAD-UK 3 160000100 160000101 deletion of <=200bp TT - upstream_gene_variant ESAD-UK 3 160000600 160000600 single base substitution G C intron_variant ESAD-UK 3 160000795 160000795 deletion of <=200bp A - intron_variant ESAD-UK 3 160000795 160000795 insertion of <=200bp - A intron_variant ESAD-UK 3 160003150 160003150 single base substitution T G intron_variant ESAD-UK 3 160003182 160003182 single base substitution C T intron_variant ESAD-UK 3 160005054 160005054 single base substitution T C intron_variant ESAD-UK 3 160006918 160006918 deletion of <=200bp A - intron_variant ESAD-UK 3 160010435 160010435 single base substitution T G intron_variant ESAD-UK 3 160012487 160012487 single base substitution A G downstream_gene_variant ESAD-UK 3 160012487 160012487 single base substitution A G intron_variant ESAD-UK 3 160012744 160012744 single base substitution T A downstream_gene_variant ESAD-UK 3 160012744 160012744 single base substitution T A intron_variant ESAD-UK 3 160018351 160018351 single base substitution T G downstream_gene_variant ESAD-UK 3 160018351 160018351 single base substitution T G intron_variant ESAD-UK 3 160020280 160020280 single base substitution A C downstream_gene_variant ESAD-UK 3 160020280 160020280 single base substitution A C intron_variant ESAD-UK 3 160020541 160020541 single base substitution T A downstream_gene_variant ESAD-UK 3 160020541 160020541 single base substitution T A intron_variant ESAD-UK 3 160021985 160021985 single base substitution G A intron_variant ESAD-UK 3 160024053 160024053 single base substitution C T intron_variant ESAD-UK 3 160024375 160024375 single base substitution A G intron_variant ESAD-UK 3 160024442 160024442 single base substitution C A intron_variant ESAD-UK 3 160024537 160024537 single base substitution A T intron_variant ESAD-UK 3 160025833 160025833 single base substitution A G intron_variant ESAD-UK 3 160025833 160025833 single base substitution A G upstream_gene_variant ESAD-UK 3 160026304 160026304 single base substitution G A intron_variant ESAD-UK 3 160026304 160026304 single base substitution G A upstream_gene_variant ESAD-UK 3 160026657 160026657 single base substitution G T intron_variant ESAD-UK 3 160026657 160026657 single base substitution G T upstream_gene_variant ESAD-UK 3 160032096 160032096 single base substitution C T intron_variant ESAD-UK 3 160034574 160034574 deletion of <=200bp A - downstream_gene_variant ESAD-UK 3 160034574 160034574 deletion of <=200bp A - intron_variant ESAD-UK 3 160034575 160034575 single base substitution A G downstream_gene_variant ESAD-UK 3 160034575 160034575 single base substitution A G intron_variant ESAD-UK 3 160035694 160035694 single base substitution A C downstream_gene_variant ESAD-UK 3 160035694 160035694 single base substitution A C intron_variant ESAD-UK 3 160035716 160035716 single base substitution A G downstream_gene_variant ESAD-UK 3 160035716 160035716 single base substitution A G intron_variant ESAD-UK 3 160036358 160036358 single base substitution G A downstream_gene_variant ESAD-UK 3 160036358 160036358 single base substitution G A intron_variant ESAD-UK 3 160038553 160038553 insertion of <=200bp - AT intron_variant ESAD-UK 3 160038553 160038553 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 3 160040697 160040697 single base substitution T G intron_variant ESAD-UK 3 160040697 160040697 single base substitution T G upstream_gene_variant ESAD-UK 3 160044584 160044584 single base substitution T A intron_variant ESAD-UK 3 160049840 160049840 single base substitution T C intron_variant ESAD-UK 3 160050924 160050924 insertion of <=200bp - A intron_variant ESAD-UK 3 160051562 160051562 single base substitution T G intron_variant ESAD-UK 3 160053903 160053903 single base substitution A C intron_variant ESAD-UK 3 160054380 160054381 deletion of <=200bp TG - intron_variant ESAD-UK 3 160056381 160056381 single base substitution C T intron_variant ESAD-UK 3 160057001 160057001 single base substitution C A intron_variant ESAD-UK 3 160058207 160058207 single base substitution C A intron_variant ESAD-UK 3 160059943 160059943 single base substitution G A intron_variant ESAD-UK 3 160060847 160060847 deletion of <=200bp A - intron_variant ESAD-UK 3 160061771 160061771 single base substitution G T intron_variant ESAD-UK 3 160061867 160061867 single base substitution G A intron_variant ESAD-UK 3 160064783 160064783 single base substitution C A intron_variant ESAD-UK 3 160066412 160066412 single base substitution A C intron_variant ESAD-UK 3 160068490 160068490 single base substitution T G intron_variant ESAD-UK 3 160072325 160072325 single base substitution C A downstream_gene_variant ESAD-UK 3 160072325 160072325 single base substitution C A intron_variant ESAD-UK 3 160076101 160076101 single base substitution C T intron_variant ESAD-UK 3 160076101 160076101 single base substitution C T upstream_gene_variant ESAD-UK 3 160077672 160077672 single base substitution A G intron_variant ESAD-UK 3 160077672 160077672 single base substitution A G upstream_gene_variant ESAD-UK 3 160078227 160078227 single base substitution A T intron_variant ESAD-UK 3 160078227 160078227 single base substitution A T upstream_gene_variant ESAD-UK 3 160080288 160080288 single base substitution T A downstream_gene_variant ESAD-UK 3 160080288 160080288 single base substitution T A intron_variant ESAD-UK 3 160082000 160082000 single base substitution C G downstream_gene_variant ESAD-UK 3 160082000 160082000 single base substitution C G intron_variant ESAD-UK 3 160082901 160082901 single base substitution T C downstream_gene_variant ESAD-UK 3 160082901 160082901 single base substitution T C intron_variant ESAD-UK 3 160083224 160083224 single base substitution A T downstream_gene_variant ESAD-UK 3 160083224 160083224 single base substitution A T intron_variant ESAD-UK 3 160083450 160083450 single base substitution T A downstream_gene_variant ESAD-UK 3 160083450 160083450 single base substitution T A intron_variant ESAD-UK 3 160085386 160085386 deletion of <=200bp A - intron_variant ESAD-UK 3 160085520 160085520 single base substitution G A intron_variant ESAD-UK 3 160086731 160086731 single base substitution A G downstream_gene_variant ESAD-UK 3 160086731 160086731 single base substitution A G intron_variant ESAD-UK 3 160092346 160092346 single base substitution C G downstream_gene_variant ESAD-UK 3 160092346 160092346 single base substitution C G intron_variant ESAD-UK 3 160092735 160092735 single base substitution G A downstream_gene_variant ESAD-UK 3 160092735 160092735 single base substitution G A intron_variant ESAD-UK 3 160096273 160096273 single base substitution T C downstream_gene_variant ESAD-UK 3 160096273 160096273 single base substitution T C intron_variant ESAD-UK 3 160096273 160096273 single base substitution T C upstream_gene_variant ESAD-UK 3 160099681 160099681 single base substitution G C downstream_gene_variant ESAD-UK 3 160099681 160099681 single base substitution G C intron_variant ESAD-UK 3 160099681 160099681 single base substitution G C upstream_gene_variant ESAD-UK 3 160101126 160101126 single base substitution G T downstream_gene_variant ESAD-UK 3 160101126 160101126 single base substitution G T intron_variant ESAD-UK 3 160101329 160101329 single base substitution A C 5_prime_UTR_variant ESAD-UK 3 160101329 160101329 single base substitution A C downstream_gene_variant ESAD-UK 3 160101329 160101329 single base substitution A C exon_variant ESAD-UK 3 160101329 160101329 single base substitution A C intron_variant ESAD-UK 3 160103401 160103401 single base substitution T A intron_variant ESAD-UK 3 160103401 160103401 single base substitution T A upstream_gene_variant ESAD-UK 3 160108134 160108134 single base substitution G A intron_variant ESAD-UK 3 160108256 160108256 single base substitution C T intron_variant ESAD-UK 3 160110696 160110696 insertion of <=200bp - A intron_variant ESAD-UK 3 160113746 160113746 single base substitution G A intron_variant ESAD-UK 3 160115579 160115579 single base substitution G A intron_variant ESAD-UK 3 160118284 160118284 single base substitution G T upstream_gene_variant ESAD-UK 3 160118673 160118673 single base substitution C T upstream_gene_variant ESAD-UK 3 160119813 160119813 single base substitution A G upstream_gene_variant ESAD-UK 3 160119898 160119898 single base substitution A C upstream_gene_variant ESAD-UK 3 160122336 160122336 deletion of <=200bp T - upstream_gene_variant ESCA-CN 3 160083843 160083843 single base substitution A T downstream_gene_variant ESCA-CN 3 160083843 160083843 single base substitution A T intron_variant ESCA-CN 3 160083843 160083843 single base substitution A T synonymous_variant A179A 537T>A ESCA-CN 3 160083843 160083843 single base substitution A T synonymous_variant A42A 126T>A ESCA-CN 3 160083901 160083901 single base substitution T A exon_variant ESCA-CN 3 160083901 160083901 single base substitution T A intron_variant ESCA-CN 3 160083901 160083901 single base substitution T A missense_variant E160V 479A>T ESCA-CN 3 160083901 160083901 single base substitution T A missense_variant E23V 68A>T GBM-US 3 160075296 160075296 single base substitution C T 3_prime_UTR_variant GBM-US 3 160075296 160075296 single base substitution C T exon_variant GBM-US 3 160075296 160075296 single base substitution C T missense_variant G207D 620G>A GBM-US 3 160075296 160075296 single base substitution C T missense_variant G70D 209G>A GBM-US 3 160075296 160075296 single base substitution C T upstream_gene_variant GBM-US 3 160083930 160083930 single base substitution C T exon_variant GBM-US 3 160083930 160083930 single base substitution C T intron_variant GBM-US 3 160083930 160083930 single base substitution C T synonymous_variant V13V 39G>A GBM-US 3 160083930 160083930 single base substitution C T synonymous_variant V150V 450G>A KIRC-US 3 160025463 160025463 single base substitution C A 3_prime_UTR_variant KIRC-US 3 160025463 160025463 single base substitution C A exon_variant KIRC-US 3 160025463 160025463 single base substitution C A missense_variant C218F 653G>T KIRC-US 3 160025463 160025463 single base substitution C A missense_variant C355F 1064G>T KIRC-US 3 160025463 160025463 single base substitution C A missense_variant C36F 107G>T LAML-KR 3 159995410 159995410 single base substitution C T exon_variant LAML-KR 3 159995410 159995410 single base substitution C T missense_variant D492N 1474G>A LAML-KR 3 159995410 159995410 single base substitution C T missense_variant D629N 1885G>A LAML-KR 3 159995410 159995410 single base substitution C T upstream_gene_variant LAML-KR 3 160058815 160058815 single base substitution G T intron_variant LGG-US 3 160122126 160122126 single base substitution A C upstream_gene_variant LICA-CN 3 160003639 160003639 single base substitution C A exon_variant LICA-CN 3 160003639 160003639 single base substitution C A missense_variant A308S 922G>T LICA-CN 3 160003639 160003639 single base substitution C A missense_variant A445S 1333G>T LICA-CN 3 160037714 160037714 single base substitution A C 3_prime_UTR_variant LICA-CN 3 160037714 160037714 single base substitution A C exon_variant LICA-CN 3 160037714 160037714 single base substitution A C stop_gained L127* 380T>G LICA-CN 3 160037714 160037714 single base substitution A C stop_gained L264* 791T>G LICA-CN 3 160102436 160102436 single base substitution T A intron_variant LICA-CN 3 160102436 160102436 single base substitution T A splice_acceptor_variant LICA-CN 3 160102436 160102436 single base substitution T A upstream_gene_variant LICA-FR 3 159997062 159997062 single base substitution T C exon_variant LICA-FR 3 159997062 159997062 single base substitution T C missense_variant I448M 1344A>G LICA-FR 3 159997062 159997062 single base substitution T C missense_variant I585M 1755A>G LICA-FR 3 159997062 159997062 single base substitution T C upstream_gene_variant LICA-FR 3 160008224 160008224 single base substitution A G intron_variant LICA-FR 3 160026859 160026859 single base substitution T C intron_variant LICA-FR 3 160026859 160026859 single base substitution T C upstream_gene_variant LICA-FR 3 160034993 160034993 single base substitution A C downstream_gene_variant LICA-FR 3 160034993 160034993 single base substitution A C intron_variant LICA-FR 3 160057019 160057019 single base substitution C A intron_variant LICA-FR 3 160061643 160061643 single base substitution T C intron_variant LICA-FR 3 160067330 160067351 deletion of <=200bp TGCTAGGGTATAGATCATTCCT - intron_variant LICA-FR 3 160073860 160073860 single base substitution C T 3_prime_UTR_variant LICA-FR 3 160073860 160073860 single base substitution C T downstream_gene_variant LICA-FR 3 160073860 160073860 single base substitution C T exon_variant LICA-FR 3 160073860 160073860 single base substitution C T missense_variant D103N 307G>A LICA-FR 3 160073860 160073860 single base substitution C T missense_variant D240N 718G>A LICA-FR 3 160077468 160077468 single base substitution C T intron_variant LICA-FR 3 160077468 160077468 single base substitution C T upstream_gene_variant LICA-FR 3 160088338 160088338 single base substitution T C downstream_gene_variant LICA-FR 3 160088338 160088338 single base substitution T C intron_variant LICA-FR 3 160093017 160093017 single base substitution A G downstream_gene_variant LICA-FR 3 160093017 160093017 single base substitution A G intron_variant LICA-FR 3 160122190 160122190 single base substitution T C upstream_gene_variant LIHC-US 3 159976324 159976324 single base substitution A G exon_variant LIHC-US 3 159976324 159976324 single base substitution A G synonymous_variant L638L 1912T>C LIHC-US 3 159976324 159976324 single base substitution A G synonymous_variant L775L 2323T>C LINC-JP 3 159970643 159970643 single base substitution C A downstream_gene_variant LINC-JP 3 159985886 159985886 single base substitution T G intron_variant LINC-JP 3 159995253 159995253 single base substitution T C exon_variant LINC-JP 3 159995253 159995253 single base substitution T C missense_variant Q510R 1529A>G LINC-JP 3 159995253 159995253 single base substitution T C missense_variant Q647R 1940A>G LINC-JP 3 160000282 160000282 single base substitution T C exon_variant LINC-JP 3 160000282 160000282 single base substitution T C synonymous_variant E363E 1089A>G LINC-JP 3 160000282 160000282 single base substitution T C synonymous_variant E500E 1500A>G LINC-JP 3 160014920 160014920 single base substitution A G downstream_gene_variant LINC-JP 3 160014920 160014920 single base substitution A G intron_variant LINC-JP 3 160016262 160016262 single base substitution C T downstream_gene_variant LINC-JP 3 160016262 160016262 single base substitution C T intron_variant LINC-JP 3 160016458 160016458 single base substitution A T downstream_gene_variant LINC-JP 3 160016458 160016458 single base substitution A T intron_variant LINC-JP 3 160016605 160016605 single base substitution C T downstream_gene_variant LINC-JP 3 160016605 160016605 single base substitution C T intron_variant LINC-JP 3 160044156 160044156 single base substitution A G intron_variant LINC-JP 3 160057204 160057204 single base substitution T C intron_variant LINC-JP 3 160059986 160059986 single base substitution T C intron_variant LINC-JP 3 160066695 160066695 single base substitution C T intron_variant LINC-JP 3 160069527 160069527 deletion of <=200bp G - downstream_gene_variant LINC-JP 3 160069527 160069527 deletion of <=200bp G - intron_variant LINC-JP 3 160075397 160075397 single base substitution T C intron_variant LINC-JP 3 160075397 160075397 single base substitution T C upstream_gene_variant LINC-JP 3 160088164 160088164 deletion of <=200bp T - downstream_gene_variant LINC-JP 3 160088164 160088164 deletion of <=200bp T - intron_variant LINC-JP 3 160088177 160088177 single base substitution C T downstream_gene_variant LINC-JP 3 160088177 160088177 single base substitution C T intron_variant LINC-JP 3 160090026 160090026 single base substitution C A downstream_gene_variant LINC-JP 3 160090026 160090026 single base substitution C A intron_variant LINC-JP 3 160090707 160090707 single base substitution C T downstream_gene_variant LINC-JP 3 160090707 160090707 single base substitution C T intron_variant LINC-JP 3 160096478 160096478 single base substitution G T downstream_gene_variant LINC-JP 3 160096478 160096478 single base substitution G T intron_variant LINC-JP 3 160096478 160096478 single base substitution G T upstream_gene_variant LINC-JP 3 160099497 160099497 single base substitution C T 5_prime_UTR_variant LINC-JP 3 160099497 160099497 single base substitution C T downstream_gene_variant LINC-JP 3 160099497 160099497 single base substitution C T exon_variant LINC-JP 3 160099497 160099497 single base substitution C T intron_variant LINC-JP 3 160099497 160099497 single base substitution C T missense_variant S18N 53G>A LINC-JP 3 160099497 160099497 single base substitution C T upstream_gene_variant LINC-JP 3 160105160 160105160 single base substitution C T intron_variant LINC-JP 3 160105160 160105160 single base substitution C T upstream_gene_variant LINC-JP 3 160106965 160106965 single base substitution A G intron_variant LINC-JP 3 160122327 160122327 single base substitution T A upstream_gene_variant LIRI-JP 3 159971800 159971800 single base substitution T C downstream_gene_variant LIRI-JP 3 159974200 159974200 single base substitution A C downstream_gene_variant LIRI-JP 3 159974952 159974952 single base substitution C T 3_prime_UTR_variant LIRI-JP 3 159974952 159974952 single base substitution C T downstream_gene_variant LIRI-JP 3 159975119 159975119 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 159975119 159975119 single base substitution T C downstream_gene_variant LIRI-JP 3 159975705 159975705 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 159975705 159975705 single base substitution T C downstream_gene_variant LIRI-JP 3 159977824 159977824 single base substitution C G intron_variant LIRI-JP 3 159978341 159978345 deletion of <=200bp AGTGG - intron_variant LIRI-JP 3 159983713 159983713 single base substitution G A intron_variant LIRI-JP 3 159984711 159984711 single base substitution T C intron_variant LIRI-JP 3 159985211 159985211 single base substitution T C intron_variant LIRI-JP 3 159985512 159985512 single base substitution T C intron_variant LIRI-JP 3 159988054 159988054 single base substitution G T intron_variant LIRI-JP 3 159988054 159988054 single base substitution G T upstream_gene_variant LIRI-JP 3 159988584 159988584 single base substitution G A intron_variant LIRI-JP 3 159988584 159988584 single base substitution G A upstream_gene_variant LIRI-JP 3 159989308 159989308 single base substitution G C intron_variant LIRI-JP 3 159989308 159989308 single base substitution G C upstream_gene_variant LIRI-JP 3 159989901 159989901 single base substitution G A intron_variant LIRI-JP 3 159989901 159989901 single base substitution G A upstream_gene_variant LIRI-JP 3 159990170 159990170 single base substitution T C intron_variant LIRI-JP 3 159990170 159990170 single base substitution T C upstream_gene_variant LIRI-JP 3 159994254 159994254 single base substitution C T intron_variant LIRI-JP 3 159994675 159994675 single base substitution C A intron_variant LIRI-JP 3 159996948 159996948 single base substitution T C intron_variant LIRI-JP 3 159996948 159996948 single base substitution T C upstream_gene_variant LIRI-JP 3 159997124 159997124 single base substitution T C exon_variant LIRI-JP 3 159997124 159997124 single base substitution T C missense_variant S428G 1282A>G LIRI-JP 3 159997124 159997124 single base substitution T C missense_variant S565G 1693A>G LIRI-JP 3 159997124 159997124 single base substitution T C upstream_gene_variant LIRI-JP 3 159997760 159997760 single base substitution T C intron_variant LIRI-JP 3 159997760 159997760 single base substitution T C upstream_gene_variant LIRI-JP 3 160000425 160000425 single base substitution T C intron_variant LIRI-JP 3 160000603 160000603 single base substitution A T intron_variant LIRI-JP 3 160001935 160001935 single base substitution T C intron_variant LIRI-JP 3 160003287 160003287 single base substitution G A intron_variant LIRI-JP 3 160005476 160005476 single base substitution G A intron_variant LIRI-JP 3 160006218 160006218 single base substitution G A intron_variant LIRI-JP 3 160007831 160007831 single base substitution G T intron_variant LIRI-JP 3 160009089 160009089 single base substitution G C intron_variant LIRI-JP 3 160009145 160009145 single base substitution T G intron_variant LIRI-JP 3 160009239 160009239 single base substitution A T intron_variant LIRI-JP 3 160010805 160010805 single base substitution A T intron_variant LIRI-JP 3 160013295 160013295 single base substitution T C downstream_gene_variant LIRI-JP 3 160013295 160013295 single base substitution T C intron_variant LIRI-JP 3 160013962 160013962 single base substitution C T downstream_gene_variant LIRI-JP 3 160013962 160013962 single base substitution C T intron_variant LIRI-JP 3 160015912 160015912 single base substitution G A downstream_gene_variant LIRI-JP 3 160015912 160015912 single base substitution G A intron_variant LIRI-JP 3 160019712 160019712 single base substitution A C downstream_gene_variant LIRI-JP 3 160019712 160019712 single base substitution A C intron_variant LIRI-JP 3 160020644 160020644 single base substitution T A downstream_gene_variant LIRI-JP 3 160020644 160020644 single base substitution T A intron_variant LIRI-JP 3 160023800 160023800 single base substitution G T intron_variant LIRI-JP 3 160024580 160024580 single base substitution T C intron_variant LIRI-JP 3 160027272 160027272 single base substitution G T intron_variant LIRI-JP 3 160027272 160027272 single base substitution G T upstream_gene_variant LIRI-JP 3 160028824 160028824 single base substitution G A intron_variant LIRI-JP 3 160028824 160028824 single base substitution G A upstream_gene_variant LIRI-JP 3 160029783 160029783 single base substitution A T intron_variant LIRI-JP 3 160029783 160029783 single base substitution A T upstream_gene_variant LIRI-JP 3 160036981 160036981 single base substitution A C downstream_gene_variant LIRI-JP 3 160036981 160036981 single base substitution A C intron_variant LIRI-JP 3 160037539 160037539 single base substitution T C downstream_gene_variant LIRI-JP 3 160037539 160037539 single base substitution T C intron_variant LIRI-JP 3 160037596 160037596 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 160037596 160037596 single base substitution C A downstream_gene_variant LIRI-JP 3 160037596 160037596 single base substitution C A exon_variant LIRI-JP 3 160037596 160037596 single base substitution C A missense_variant W166C 498G>T LIRI-JP 3 160037596 160037596 single base substitution C A missense_variant W303C 909G>T LIRI-JP 3 160037833 160037833 single base substitution T C exon_variant LIRI-JP 3 160037833 160037833 single base substitution T C intron_variant LIRI-JP 3 160038509 160038509 single base substitution T C intron_variant LIRI-JP 3 160038509 160038509 single base substitution T C upstream_gene_variant LIRI-JP 3 160040048 160040048 single base substitution C A intron_variant LIRI-JP 3 160040048 160040048 single base substitution C A upstream_gene_variant LIRI-JP 3 160043965 160043965 single base substitution C T intron_variant LIRI-JP 3 160044267 160044267 single base substitution G T intron_variant LIRI-JP 3 160044592 160044592 single base substitution T A intron_variant LIRI-JP 3 160044643 160044643 single base substitution A C intron_variant LIRI-JP 3 160045021 160045021 single base substitution G C intron_variant LIRI-JP 3 160046966 160046966 single base substitution T C intron_variant LIRI-JP 3 160049525 160049525 single base substitution T C intron_variant LIRI-JP 3 160051362 160051362 single base substitution A C intron_variant LIRI-JP 3 160054192 160054192 single base substitution T C intron_variant LIRI-JP 3 160055660 160055660 single base substitution C T intron_variant LIRI-JP 3 160057525 160057525 single base substitution A G intron_variant LIRI-JP 3 160058294 160058294 single base substitution T C intron_variant LIRI-JP 3 160062411 160062411 single base substitution G C intron_variant LIRI-JP 3 160068181 160068181 single base substitution G T intron_variant LIRI-JP 3 160069199 160069199 single base substitution C T downstream_gene_variant LIRI-JP 3 160069199 160069199 single base substitution C T intron_variant LIRI-JP 3 160069527 160069527 deletion of <=200bp G - downstream_gene_variant LIRI-JP 3 160069527 160069527 deletion of <=200bp G - intron_variant LIRI-JP 3 160069942 160069942 single base substitution C T downstream_gene_variant LIRI-JP 3 160069942 160069942 single base substitution C T intron_variant LIRI-JP 3 160071742 160071742 single base substitution A C downstream_gene_variant LIRI-JP 3 160071742 160071742 single base substitution A C intron_variant LIRI-JP 3 160073650 160073650 single base substitution A C downstream_gene_variant LIRI-JP 3 160073650 160073650 single base substitution A C intron_variant LIRI-JP 3 160074653 160074653 single base substitution C T downstream_gene_variant LIRI-JP 3 160074653 160074653 single base substitution C T intron_variant LIRI-JP 3 160075069 160075069 single base substitution G T downstream_gene_variant LIRI-JP 3 160075069 160075069 single base substitution G T intron_variant LIRI-JP 3 160075501 160075501 single base substitution C A intron_variant LIRI-JP 3 160075501 160075501 single base substitution C A upstream_gene_variant LIRI-JP 3 160077377 160077377 single base substitution C T intron_variant LIRI-JP 3 160077377 160077377 single base substitution C T upstream_gene_variant LIRI-JP 3 160077919 160077919 single base substitution C A intron_variant LIRI-JP 3 160077919 160077919 single base substitution C A upstream_gene_variant LIRI-JP 3 160078367 160078367 single base substitution G A intron_variant LIRI-JP 3 160078367 160078367 single base substitution G A upstream_gene_variant LIRI-JP 3 160078558 160078558 single base substitution T A intron_variant LIRI-JP 3 160078558 160078558 single base substitution T A upstream_gene_variant LIRI-JP 3 160079124 160079124 single base substitution T C downstream_gene_variant LIRI-JP 3 160079124 160079124 single base substitution T C intron_variant LIRI-JP 3 160079124 160079124 single base substitution T C upstream_gene_variant LIRI-JP 3 160079415 160079415 single base substitution T A downstream_gene_variant LIRI-JP 3 160079415 160079415 single base substitution T A intron_variant LIRI-JP 3 160079415 160079415 single base substitution T A upstream_gene_variant LIRI-JP 3 160082199 160082199 single base substitution A T downstream_gene_variant LIRI-JP 3 160082199 160082199 single base substitution A T intron_variant LIRI-JP 3 160082988 160082988 single base substitution C A downstream_gene_variant LIRI-JP 3 160082988 160082988 single base substitution C A intron_variant LIRI-JP 3 160084130 160084142 deletion of <=200bp TGAAAATCTACTG - intron_variant LIRI-JP 3 160085047 160085047 single base substitution A G intron_variant LIRI-JP 3 160085829 160085829 single base substitution T C intron_variant LIRI-JP 3 160087999 160087999 single base substitution A T downstream_gene_variant LIRI-JP 3 160087999 160087999 single base substitution A T intron_variant LIRI-JP 3 160092364 160092364 single base substitution C G downstream_gene_variant LIRI-JP 3 160092364 160092364 single base substitution C G intron_variant LIRI-JP 3 160092974 160092974 single base substitution T C downstream_gene_variant LIRI-JP 3 160092974 160092974 single base substitution T C intron_variant LIRI-JP 3 160093692 160093692 single base substitution T A downstream_gene_variant LIRI-JP 3 160093692 160093692 single base substitution T A intron_variant LIRI-JP 3 160095144 160095144 single base substitution T C downstream_gene_variant LIRI-JP 3 160095144 160095144 single base substitution T C intron_variant LIRI-JP 3 160096172 160096172 single base substitution T C downstream_gene_variant LIRI-JP 3 160096172 160096172 single base substitution T C intron_variant LIRI-JP 3 160096172 160096172 single base substitution T C upstream_gene_variant LIRI-JP 3 160097791 160097791 single base substitution A T downstream_gene_variant LIRI-JP 3 160097791 160097791 single base substitution A T intron_variant LIRI-JP 3 160097791 160097791 single base substitution A T upstream_gene_variant LIRI-JP 3 160099457 160099457 single base substitution A G 5_prime_UTR_variant LIRI-JP 3 160099457 160099457 single base substitution A G downstream_gene_variant LIRI-JP 3 160099457 160099457 single base substitution A G exon_variant LIRI-JP 3 160099457 160099457 single base substitution A G intron_variant LIRI-JP 3 160099457 160099457 single base substitution A G synonymous_variant C31C 93T>C LIRI-JP 3 160099457 160099457 single base substitution A G upstream_gene_variant LIRI-JP 3 160099483 160099483 single base substitution T A 5_prime_UTR_variant LIRI-JP 3 160099483 160099483 single base substitution T A downstream_gene_variant LIRI-JP 3 160099483 160099483 single base substitution T A exon_variant LIRI-JP 3 160099483 160099483 single base substitution T A intron_variant LIRI-JP 3 160099483 160099483 single base substitution T A missense_variant T23S 67A>T LIRI-JP 3 160099483 160099483 single base substitution T A upstream_gene_variant LIRI-JP 3 160102054 160102054 single base substitution T A downstream_gene_variant LIRI-JP 3 160102054 160102054 single base substitution T A exon_variant LIRI-JP 3 160102054 160102054 single base substitution T A intron_variant LIRI-JP 3 160102054 160102054 single base substitution T A upstream_gene_variant LIRI-JP 3 160104241 160104241 single base substitution A C intron_variant LIRI-JP 3 160104241 160104241 single base substitution A C upstream_gene_variant LIRI-JP 3 160105597 160105597 single base substitution T C intron_variant LIRI-JP 3 160105597 160105597 single base substitution T C upstream_gene_variant LIRI-JP 3 160105789 160105789 single base substitution C A intron_variant LIRI-JP 3 160105789 160105789 single base substitution C A upstream_gene_variant LIRI-JP 3 160106221 160106221 single base substitution C T intron_variant LIRI-JP 3 160106221 160106221 single base substitution C T upstream_gene_variant LIRI-JP 3 160110408 160110408 single base substitution C T intron_variant LIRI-JP 3 160110453 160110453 single base substitution G A intron_variant LIRI-JP 3 160111225 160111225 single base substitution A T intron_variant LIRI-JP 3 160112788 160112788 single base substitution A G intron_variant LIRI-JP 3 160114647 160114647 deletion of <=200bp T - intron_variant LIRI-JP 3 160116386 160116386 single base substitution G T intron_variant LIRI-JP 3 160117191 160117191 single base substitution G T 5_prime_UTR_variant LIRI-JP 3 160117191 160117191 single base substitution G T exon_variant LIRI-JP 3 160117191 160117191 single base substitution G T upstream_gene_variant LIRI-JP 3 160119809 160119809 single base substitution T G upstream_gene_variant LIRI-JP 3 160121075 160121075 single base substitution T G upstream_gene_variant LIRI-JP 3 160121158 160121158 single base substitution T G upstream_gene_variant LIRI-JP 3 160121479 160121479 single base substitution A G upstream_gene_variant LIRI-JP 3 160121896 160121896 single base substitution G C upstream_gene_variant LUSC-KR 3 159970983 159970983 single base substitution C A downstream_gene_variant LUSC-KR 3 159971305 159971305 single base substitution G A downstream_gene_variant LUSC-KR 3 159972485 159972485 single base substitution G T downstream_gene_variant LUSC-KR 3 159974105 159974105 single base substitution C A downstream_gene_variant LUSC-KR 3 159975837 159975837 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 159975837 159975837 single base substitution G C downstream_gene_variant LUSC-KR 3 159976356 159976356 single base substitution G C exon_variant LUSC-KR 3 159976356 159976356 single base substitution G C stop_gained S627* 1880C>G LUSC-KR 3 159976356 159976356 single base substitution G C stop_gained S764* 2291C>G LUSC-KR 3 159979414 159979414 single base substitution C G intron_variant LUSC-KR 3 159979503 159979503 single base substitution C A intron_variant LUSC-KR 3 159982282 159982282 single base substitution C T intron_variant LUSC-KR 3 159982937 159982937 single base substitution C T intron_variant LUSC-KR 3 159983698 159983698 single base substitution G A intron_variant LUSC-KR 3 159984642 159984642 single base substitution C G intron_variant LUSC-KR 3 159988355 159988355 single base substitution C T intron_variant LUSC-KR 3 159988355 159988355 single base substitution C T upstream_gene_variant LUSC-KR 3 159988611 159988611 single base substitution G C intron_variant LUSC-KR 3 159988611 159988611 single base substitution G C upstream_gene_variant LUSC-KR 3 159992581 159992581 single base substitution G T intron_variant LUSC-KR 3 159995937 159995937 single base substitution C G intron_variant LUSC-KR 3 159995937 159995937 single base substitution C G upstream_gene_variant LUSC-KR 3 159996770 159996770 single base substitution G A intron_variant LUSC-KR 3 159996770 159996770 single base substitution G A upstream_gene_variant LUSC-KR 3 159998391 159998391 single base substitution A T intron_variant LUSC-KR 3 159998391 159998391 single base substitution A T upstream_gene_variant LUSC-KR 3 160000522 160000522 single base substitution G A intron_variant LUSC-KR 3 160002102 160002102 single base substitution C A intron_variant LUSC-KR 3 160002516 160002516 single base substitution T C intron_variant LUSC-KR 3 160002978 160002978 single base substitution C A intron_variant LUSC-KR 3 160003677 160003677 single base substitution T C intron_variant LUSC-KR 3 160009409 160009409 single base substitution C A intron_variant LUSC-KR 3 160010286 160010286 single base substitution G T intron_variant LUSC-KR 3 160010428 160010428 single base substitution C A intron_variant LUSC-KR 3 160010521 160010521 single base substitution C A intron_variant LUSC-KR 3 160014081 160014081 single base substitution C G downstream_gene_variant LUSC-KR 3 160014081 160014081 single base substitution C G intron_variant LUSC-KR 3 160015367 160015367 single base substitution A C downstream_gene_variant LUSC-KR 3 160015367 160015367 single base substitution A C intron_variant LUSC-KR 3 160017936 160017936 single base substitution C G downstream_gene_variant LUSC-KR 3 160017936 160017936 single base substitution C G intron_variant LUSC-KR 3 160020579 160020579 single base substitution C A downstream_gene_variant LUSC-KR 3 160020579 160020579 single base substitution C A intron_variant LUSC-KR 3 160021681 160021681 single base substitution G A downstream_gene_variant LUSC-KR 3 160021681 160021681 single base substitution G A intron_variant LUSC-KR 3 160023523 160023523 single base substitution T G intron_variant LUSC-KR 3 160025161 160025161 single base substitution C G intron_variant LUSC-KR 3 160025287 160025287 single base substitution C T intron_variant LUSC-KR 3 160026114 160026114 single base substitution C A intron_variant LUSC-KR 3 160026114 160026114 single base substitution C A upstream_gene_variant LUSC-KR 3 160028741 160028741 single base substitution C G intron_variant LUSC-KR 3 160028741 160028741 single base substitution C G upstream_gene_variant LUSC-KR 3 160029720 160029720 single base substitution C A intron_variant LUSC-KR 3 160029720 160029720 single base substitution C A upstream_gene_variant LUSC-KR 3 160032316 160032316 single base substitution C A intron_variant LUSC-KR 3 160032317 160032317 single base substitution C A intron_variant LUSC-KR 3 160032994 160032994 single base substitution C G downstream_gene_variant LUSC-KR 3 160032994 160032994 single base substitution C G intron_variant LUSC-KR 3 160033093 160033093 single base substitution G A downstream_gene_variant LUSC-KR 3 160033093 160033093 single base substitution G A intron_variant LUSC-KR 3 160035329 160035329 single base substitution G C downstream_gene_variant LUSC-KR 3 160035329 160035329 single base substitution G C intron_variant LUSC-KR 3 160036570 160036570 single base substitution G C downstream_gene_variant LUSC-KR 3 160036570 160036570 single base substitution G C intron_variant LUSC-KR 3 160037632 160037632 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 160037632 160037632 single base substitution T C exon_variant LUSC-KR 3 160037632 160037632 single base substitution T C synonymous_variant G154G 462A>G LUSC-KR 3 160037632 160037632 single base substitution T C synonymous_variant G291G 873A>G LUSC-KR 3 160039368 160039368 single base substitution T A intron_variant LUSC-KR 3 160039368 160039368 single base substitution T A upstream_gene_variant LUSC-KR 3 160039825 160039825 single base substitution T G intron_variant LUSC-KR 3 160039825 160039825 single base substitution T G upstream_gene_variant LUSC-KR 3 160040424 160040424 single base substitution G C intron_variant LUSC-KR 3 160040424 160040424 single base substitution G C upstream_gene_variant LUSC-KR 3 160040483 160040483 single base substitution C G intron_variant LUSC-KR 3 160040483 160040483 single base substitution C G upstream_gene_variant LUSC-KR 3 160040527 160040527 single base substitution G A intron_variant LUSC-KR 3 160040527 160040527 single base substitution G A upstream_gene_variant LUSC-KR 3 160042303 160042303 single base substitution C A intron_variant LUSC-KR 3 160042303 160042303 single base substitution C A upstream_gene_variant LUSC-KR 3 160047006 160047006 single base substitution A C intron_variant LUSC-KR 3 160051861 160051861 single base substitution C T intron_variant LUSC-KR 3 160053498 160053498 single base substitution G C intron_variant LUSC-KR 3 160053632 160053632 single base substitution T C intron_variant LUSC-KR 3 160055510 160055510 single base substitution G A intron_variant LUSC-KR 3 160057342 160057342 single base substitution T A intron_variant LUSC-KR 3 160058237 160058237 single base substitution G A intron_variant LUSC-KR 3 160060068 160060068 single base substitution T A intron_variant LUSC-KR 3 160060779 160060779 single base substitution G A intron_variant LUSC-KR 3 160065728 160065728 single base substitution T G intron_variant LUSC-KR 3 160067111 160067111 single base substitution C T intron_variant LUSC-KR 3 160068010 160068010 single base substitution C T intron_variant LUSC-KR 3 160068639 160068639 single base substitution C A intron_variant LUSC-KR 3 160068908 160068908 single base substitution C T downstream_gene_variant LUSC-KR 3 160068908 160068908 single base substitution C T intron_variant LUSC-KR 3 160069841 160069841 single base substitution T A downstream_gene_variant LUSC-KR 3 160069841 160069841 single base substitution T A intron_variant LUSC-KR 3 160070371 160070371 single base substitution T C downstream_gene_variant LUSC-KR 3 160070371 160070371 single base substitution T C intron_variant LUSC-KR 3 160070829 160070829 single base substitution G A downstream_gene_variant LUSC-KR 3 160070829 160070829 single base substitution G A intron_variant LUSC-KR 3 160074886 160074886 single base substitution G A downstream_gene_variant LUSC-KR 3 160074886 160074886 single base substitution G A intron_variant LUSC-KR 3 160075470 160075470 single base substitution T G intron_variant LUSC-KR 3 160075470 160075470 single base substitution T G upstream_gene_variant LUSC-KR 3 160077885 160077885 single base substitution A G intron_variant LUSC-KR 3 160077885 160077885 single base substitution A G upstream_gene_variant LUSC-KR 3 160083115 160083115 single base substitution C A downstream_gene_variant LUSC-KR 3 160083115 160083115 single base substitution C A intron_variant LUSC-KR 3 160084912 160084912 single base substitution G A intron_variant LUSC-KR 3 160089524 160089524 single base substitution C A downstream_gene_variant LUSC-KR 3 160089524 160089524 single base substitution C A intron_variant LUSC-KR 3 160090205 160090205 single base substitution A G downstream_gene_variant LUSC-KR 3 160090205 160090205 single base substitution A G intron_variant LUSC-KR 3 160097794 160097794 single base substitution C T downstream_gene_variant LUSC-KR 3 160097794 160097794 single base substitution C T intron_variant LUSC-KR 3 160097794 160097794 single base substitution C T upstream_gene_variant LUSC-KR 3 160098188 160098188 single base substitution G T downstream_gene_variant LUSC-KR 3 160098188 160098188 single base substitution G T intron_variant LUSC-KR 3 160098188 160098188 single base substitution G T upstream_gene_variant LUSC-KR 3 160100947 160100947 single base substitution T G downstream_gene_variant LUSC-KR 3 160100947 160100947 single base substitution T G intron_variant LUSC-KR 3 160105076 160105076 single base substitution G C intron_variant LUSC-KR 3 160105076 160105076 single base substitution G C upstream_gene_variant LUSC-KR 3 160106796 160106796 single base substitution C G intron_variant LUSC-KR 3 160109773 160109773 single base substitution G A intron_variant LUSC-KR 3 160114875 160114875 single base substitution C G intron_variant LUSC-KR 3 160116110 160116110 single base substitution G C intron_variant LUSC-KR 3 160116807 160116807 single base substitution T G intron_variant LUSC-KR 3 160117968 160117968 single base substitution C A upstream_gene_variant LUSC-KR 3 160118180 160118180 single base substitution G A upstream_gene_variant LUSC-US 3 159995188 159995188 single base substitution T G exon_variant LUSC-US 3 159995188 159995188 single base substitution T G missense_variant S532R 1594A>C LUSC-US 3 159995188 159995188 single base substitution T G missense_variant S669R 2005A>C LUSC-US 3 159997010 159997010 single base substitution C G exon_variant LUSC-US 3 159997010 159997010 single base substitution C G missense_variant D466H 1396G>C LUSC-US 3 159997010 159997010 single base substitution C G missense_variant D603H 1807G>C LUSC-US 3 159997010 159997010 single base substitution C G upstream_gene_variant LUSC-US 3 160003629 160003629 single base substitution C A exon_variant LUSC-US 3 160003629 160003629 single base substitution C A missense_variant G311V 932G>T LUSC-US 3 160003629 160003629 single base substitution C A missense_variant G448V 1343G>T LUSC-US 3 160037573 160037573 single base substitution G C 3_prime_UTR_variant LUSC-US 3 160037573 160037573 single base substitution G C downstream_gene_variant LUSC-US 3 160037573 160037573 single base substitution G C exon_variant LUSC-US 3 160037573 160037573 single base substitution G C missense_variant T174R 521C>G LUSC-US 3 160037573 160037573 single base substitution G C missense_variant T311R 932C>G LUSC-US 3 160102367 160102367 single base substitution A G 5_prime_UTR_variant LUSC-US 3 160102367 160102367 single base substitution A G downstream_gene_variant LUSC-US 3 160102367 160102367 single base substitution A G exon_variant LUSC-US 3 160102367 160102367 single base substitution A G intron_variant LUSC-US 3 160102367 160102367 single base substitution A G synonymous_variant L8L 22T>C LUSC-US 3 160102367 160102367 single base substitution A G upstream_gene_variant LUSC-US 3 160118637 160118637 single base substitution C T upstream_gene_variant LUSC-US 3 160122461 160122461 single base substitution T C upstream_gene_variant MALY-DE 3 160000459 160000459 deletion of <=200bp T - intron_variant MALY-DE 3 160006934 160006934 single base substitution T G intron_variant MALY-DE 3 160008140 160008147 deletion of <=200bp GAGCCAAG - intron_variant MALY-DE 3 160013737 160013737 single base substitution A T downstream_gene_variant MALY-DE 3 160013737 160013737 single base substitution A T intron_variant MALY-DE 3 160016112 160016112 insertion of <=200bp - A downstream_gene_variant MALY-DE 3 160016112 160016112 insertion of <=200bp - A intron_variant MALY-DE 3 160029561 160029561 single base substitution T C intron_variant MALY-DE 3 160029561 160029561 single base substitution T C upstream_gene_variant MALY-DE 3 160044076 160044076 single base substitution A C intron_variant MALY-DE 3 160045325 160045325 single base substitution A G intron_variant MALY-DE 3 160061269 160061269 single base substitution A G intron_variant MALY-DE 3 160074271 160074271 single base substitution T C downstream_gene_variant MALY-DE 3 160074271 160074271 single base substitution T C intron_variant MALY-DE 3 160076192 160076192 single base substitution T A intron_variant MALY-DE 3 160076192 160076192 single base substitution T A upstream_gene_variant MALY-DE 3 160087136 160087136 single base substitution T A downstream_gene_variant MALY-DE 3 160087136 160087136 single base substitution T A intron_variant MALY-DE 3 160095853 160095853 single base substitution T A downstream_gene_variant MALY-DE 3 160095853 160095853 single base substitution T A intron_variant MALY-DE 3 160095853 160095853 single base substitution T A upstream_gene_variant MALY-DE 3 160098268 160098268 single base substitution G A downstream_gene_variant MALY-DE 3 160098268 160098268 single base substitution G A intron_variant MALY-DE 3 160098268 160098268 single base substitution G A upstream_gene_variant MALY-DE 3 160106631 160106631 single base substitution A T intron_variant MALY-DE 3 160112711 160112711 single base substitution T C intron_variant MALY-DE 3 160112938 160112938 single base substitution C A intron_variant MALY-DE 3 160114673 160114673 single base substitution T A intron_variant MALY-DE 3 160117749 160117749 single base substitution C T upstream_gene_variant MELA-AU 3 159969862 159969863 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 159970213 159970213 single base substitution G A downstream_gene_variant MELA-AU 3 159970221 159970221 single base substitution G A downstream_gene_variant MELA-AU 3 159970472 159970472 single base substitution G A downstream_gene_variant MELA-AU 3 159970529 159970529 single base substitution G A downstream_gene_variant MELA-AU 3 159970858 159970858 single base substitution T G downstream_gene_variant MELA-AU 3 159970894 159970894 single base substitution T C downstream_gene_variant MELA-AU 3 159971189 159971190 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 159971465 159971465 single base substitution G A downstream_gene_variant MELA-AU 3 159971961 159971961 single base substitution T C downstream_gene_variant MELA-AU 3 159972203 159972203 single base substitution T C downstream_gene_variant MELA-AU 3 159973123 159973123 single base substitution G A downstream_gene_variant MELA-AU 3 159973182 159973182 single base substitution G A downstream_gene_variant MELA-AU 3 159973388 159973388 single base substitution G A downstream_gene_variant MELA-AU 3 159973473 159973473 single base substitution G A downstream_gene_variant MELA-AU 3 159973473 159973473 single base substitution G C downstream_gene_variant MELA-AU 3 159973657 159973657 single base substitution G A downstream_gene_variant MELA-AU 3 159973728 159973729 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 159973884 159973884 single base substitution G A downstream_gene_variant MELA-AU 3 159974076 159974077 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 159974201 159974201 single base substitution A G downstream_gene_variant MELA-AU 3 159974412 159974412 single base substitution G A downstream_gene_variant MELA-AU 3 159974477 159974477 single base substitution C T downstream_gene_variant MELA-AU 3 159974727 159974727 single base substitution T A downstream_gene_variant MELA-AU 3 159975141 159975141 single base substitution C T 3_prime_UTR_variant MELA-AU 3 159975141 159975141 single base substitution C T downstream_gene_variant MELA-AU 3 159975275 159975275 single base substitution G A 3_prime_UTR_variant MELA-AU 3 159975275 159975275 single base substitution G A downstream_gene_variant MELA-AU 3 159976264 159976264 single base substitution A T 3_prime_UTR_variant MELA-AU 3 159976264 159976264 single base substitution A T exon_variant MELA-AU 3 159976356 159976356 single base substitution G A exon_variant MELA-AU 3 159976356 159976356 single base substitution G A missense_variant S627L 1880C>T MELA-AU 3 159976356 159976356 single base substitution G A missense_variant S764L 2291C>T MELA-AU 3 159976721 159976721 single base substitution G A intron_variant MELA-AU 3 159977221 159977221 single base substitution G A intron_variant MELA-AU 3 159977233 159977233 single base substitution G A intron_variant MELA-AU 3 159977275 159977275 single base substitution C T intron_variant MELA-AU 3 159977364 159977364 single base substitution G A intron_variant MELA-AU 3 159977445 159977445 single base substitution C T intron_variant MELA-AU 3 159977604 159977604 single base substitution G A intron_variant MELA-AU 3 159977610 159977610 single base substitution G A intron_variant MELA-AU 3 159977885 159977885 single base substitution G A intron_variant MELA-AU 3 159978739 159978739 single base substitution G A intron_variant MELA-AU 3 159979289 159979289 single base substitution G A intron_variant MELA-AU 3 159979303 159979303 single base substitution C T intron_variant MELA-AU 3 159979581 159979581 single base substitution C T intron_variant MELA-AU 3 159980103 159980103 single base substitution G A intron_variant MELA-AU 3 159980283 159980283 single base substitution A T intron_variant MELA-AU 3 159981293 159981293 single base substitution G A intron_variant MELA-AU 3 159981359 159981359 single base substitution C T intron_variant MELA-AU 3 159981655 159981655 single base substitution G A intron_variant MELA-AU 3 159981899 159981899 single base substitution G A intron_variant MELA-AU 3 159982198 159982198 single base substitution G A intron_variant MELA-AU 3 159982546 159982546 single base substitution G A intron_variant MELA-AU 3 159982861 159982861 single base substitution G A intron_variant MELA-AU 3 159982891 159982891 single base substitution C T intron_variant MELA-AU 3 159983149 159983149 single base substitution G A intron_variant MELA-AU 3 159983204 159983204 single base substitution C T intron_variant MELA-AU 3 159984048 159984048 single base substitution G A intron_variant MELA-AU 3 159984524 159984524 single base substitution T C intron_variant MELA-AU 3 159984824 159984824 single base substitution G A intron_variant MELA-AU 3 159984845 159984845 single base substitution G A intron_variant MELA-AU 3 159985135 159985135 single base substitution C A intron_variant MELA-AU 3 159985313 159985313 single base substitution G A intron_variant MELA-AU 3 159985459 159985459 single base substitution G A intron_variant MELA-AU 3 159985562 159985563 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 159985781 159985781 single base substitution C T intron_variant MELA-AU 3 159985917 159985917 single base substitution C A intron_variant MELA-AU 3 159986139 159986139 single base substitution G A intron_variant MELA-AU 3 159986252 159986252 single base substitution C T exon_variant MELA-AU 3 159986252 159986252 single base substitution C T synonymous_variant E587E 1761G>A MELA-AU 3 159986252 159986252 single base substitution C T synonymous_variant E724E 2172G>A MELA-AU 3 159986254 159986254 single base substitution C A exon_variant MELA-AU 3 159986254 159986254 single base substitution C A stop_gained E587* 1759G>T MELA-AU 3 159986254 159986254 single base substitution C A stop_gained E724* 2170G>T MELA-AU 3 159986501 159986501 single base substitution G A exon_variant MELA-AU 3 159986501 159986501 single base substitution G A intron_variant MELA-AU 3 159986838 159986838 single base substitution G A intron_variant MELA-AU 3 159986838 159986838 single base substitution G A upstream_gene_variant MELA-AU 3 159986965 159986965 single base substitution T C intron_variant MELA-AU 3 159986965 159986965 single base substitution T C upstream_gene_variant MELA-AU 3 159987531 159987531 single base substitution G A intron_variant MELA-AU 3 159987531 159987531 single base substitution G A upstream_gene_variant MELA-AU 3 159987834 159987834 single base substitution G A intron_variant MELA-AU 3 159987834 159987834 single base substitution G A upstream_gene_variant MELA-AU 3 159988003 159988003 single base substitution G A intron_variant MELA-AU 3 159988003 159988003 single base substitution G A upstream_gene_variant MELA-AU 3 159988138 159988138 single base substitution T C intron_variant MELA-AU 3 159988138 159988138 single base substitution T C upstream_gene_variant MELA-AU 3 159988431 159988431 single base substitution G A intron_variant MELA-AU 3 159988431 159988431 single base substitution G A upstream_gene_variant MELA-AU 3 159988531 159988531 single base substitution C A intron_variant MELA-AU 3 159988531 159988531 single base substitution C A upstream_gene_variant MELA-AU 3 159988784 159988784 single base substitution A C intron_variant MELA-AU 3 159988784 159988784 single base substitution A C upstream_gene_variant MELA-AU 3 159989295 159989295 single base substitution G A intron_variant MELA-AU 3 159989295 159989295 single base substitution G A upstream_gene_variant MELA-AU 3 159990599 159990599 single base substitution G A intron_variant MELA-AU 3 159990599 159990599 single base substitution G A upstream_gene_variant MELA-AU 3 159990629 159990629 single base substitution A C intron_variant MELA-AU 3 159990629 159990629 single base substitution A C upstream_gene_variant MELA-AU 3 159991291 159991291 single base substitution G A intron_variant MELA-AU 3 159991291 159991291 single base substitution G A upstream_gene_variant MELA-AU 3 159991389 159991389 single base substitution G A intron_variant MELA-AU 3 159991389 159991389 single base substitution G A upstream_gene_variant MELA-AU 3 159991437 159991437 single base substitution A G intron_variant MELA-AU 3 159991437 159991437 single base substitution A G upstream_gene_variant MELA-AU 3 159991605 159991605 single base substitution G A intron_variant MELA-AU 3 159991793 159991793 single base substitution C T intron_variant MELA-AU 3 159991824 159991824 single base substitution C T intron_variant MELA-AU 3 159991885 159991885 single base substitution G A intron_variant MELA-AU 3 159992135 159992135 single base substitution G A intron_variant MELA-AU 3 159992449 159992449 single base substitution C A intron_variant MELA-AU 3 159992722 159992722 single base substitution G A intron_variant MELA-AU 3 159993244 159993244 single base substitution C A intron_variant MELA-AU 3 159993417 159993417 single base substitution A G intron_variant MELA-AU 3 159993665 159993665 single base substitution G A intron_variant MELA-AU 3 159993979 159993979 single base substitution G A intron_variant MELA-AU 3 159994018 159994018 single base substitution G A intron_variant MELA-AU 3 159994170 159994170 single base substitution G A intron_variant MELA-AU 3 159994509 159994509 single base substitution A G intron_variant MELA-AU 3 159994700 159994700 single base substitution A G intron_variant MELA-AU 3 159995077 159995077 single base substitution G A intron_variant MELA-AU 3 159995659 159995659 single base substitution G A intron_variant MELA-AU 3 159995659 159995659 single base substitution G A upstream_gene_variant MELA-AU 3 159996152 159996152 single base substitution A G intron_variant MELA-AU 3 159996152 159996152 single base substitution A G upstream_gene_variant MELA-AU 3 159996587 159996587 single base substitution G A intron_variant MELA-AU 3 159996587 159996587 single base substitution G A upstream_gene_variant MELA-AU 3 159996798 159996798 single base substitution T C intron_variant MELA-AU 3 159996798 159996798 single base substitution T C upstream_gene_variant MELA-AU 3 159997294 159997295 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 159997294 159997295 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 159997451 159997451 single base substitution T C intron_variant MELA-AU 3 159997451 159997451 single base substitution T C upstream_gene_variant MELA-AU 3 159997869 159997869 single base substitution G A intron_variant MELA-AU 3 159997869 159997869 single base substitution G A upstream_gene_variant MELA-AU 3 159998315 159998315 single base substitution C T intron_variant MELA-AU 3 159998315 159998315 single base substitution C T upstream_gene_variant MELA-AU 3 159999517 159999517 single base substitution G A intron_variant MELA-AU 3 159999517 159999517 single base substitution G A upstream_gene_variant MELA-AU 3 159999624 159999624 single base substitution G A intron_variant MELA-AU 3 159999624 159999624 single base substitution G A upstream_gene_variant MELA-AU 3 160000610 160000610 single base substitution G A intron_variant MELA-AU 3 160001492 160001492 single base substitution C T intron_variant MELA-AU 3 160002026 160002026 single base substitution G A intron_variant MELA-AU 3 160002027 160002027 single base substitution G A intron_variant MELA-AU 3 160002215 160002215 single base substitution G A intron_variant MELA-AU 3 160002522 160002522 single base substitution G A intron_variant MELA-AU 3 160003212 160003212 single base substitution G A intron_variant MELA-AU 3 160003541 160003541 single base substitution G A intron_variant MELA-AU 3 160004125 160004125 single base substitution C T intron_variant MELA-AU 3 160004395 160004396 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160004525 160004525 single base substitution G A intron_variant MELA-AU 3 160004733 160004733 single base substitution G A intron_variant MELA-AU 3 160005085 160005085 single base substitution G A intron_variant MELA-AU 3 160005254 160005254 single base substitution G A intron_variant MELA-AU 3 160005784 160005784 single base substitution G A intron_variant MELA-AU 3 160006108 160006108 single base substitution G A intron_variant MELA-AU 3 160006218 160006218 single base substitution G A intron_variant MELA-AU 3 160006231 160006231 single base substitution G A intron_variant MELA-AU 3 160006458 160006458 single base substitution G A intron_variant MELA-AU 3 160006927 160006927 single base substitution G A intron_variant MELA-AU 3 160007110 160007110 single base substitution G A intron_variant MELA-AU 3 160007719 160007719 single base substitution C T intron_variant MELA-AU 3 160007726 160007726 single base substitution G A intron_variant MELA-AU 3 160007999 160007999 single base substitution C T intron_variant MELA-AU 3 160008438 160008438 single base substitution G A intron_variant MELA-AU 3 160008654 160008654 single base substitution G A intron_variant MELA-AU 3 160008702 160008702 single base substitution G T intron_variant MELA-AU 3 160010036 160010036 single base substitution A C intron_variant MELA-AU 3 160010458 160010458 single base substitution G A intron_variant MELA-AU 3 160010764 160010764 single base substitution C T intron_variant MELA-AU 3 160011232 160011232 single base substitution G A intron_variant MELA-AU 3 160011317 160011317 single base substitution C T intron_variant MELA-AU 3 160011357 160011357 single base substitution G A intron_variant MELA-AU 3 160011936 160011936 single base substitution G A downstream_gene_variant MELA-AU 3 160011936 160011936 single base substitution G A intron_variant MELA-AU 3 160012405 160012405 single base substitution G A downstream_gene_variant MELA-AU 3 160012405 160012405 single base substitution G A intron_variant MELA-AU 3 160012491 160012491 single base substitution C A downstream_gene_variant MELA-AU 3 160012491 160012491 single base substitution C A intron_variant MELA-AU 3 160012708 160012708 single base substitution G A downstream_gene_variant MELA-AU 3 160012708 160012708 single base substitution G A intron_variant MELA-AU 3 160013369 160013369 single base substitution A T downstream_gene_variant MELA-AU 3 160013369 160013369 single base substitution A T intron_variant MELA-AU 3 160013460 160013460 single base substitution G A downstream_gene_variant MELA-AU 3 160013460 160013460 single base substitution G A intron_variant MELA-AU 3 160013617 160013617 single base substitution G A downstream_gene_variant MELA-AU 3 160013617 160013617 single base substitution G A intron_variant MELA-AU 3 160013638 160013656 deletion of <=200bp ACATGGATGAACCTGACGG - downstream_gene_variant MELA-AU 3 160013638 160013656 deletion of <=200bp ACATGGATGAACCTGACGG - intron_variant MELA-AU 3 160013794 160013794 single base substitution G A downstream_gene_variant MELA-AU 3 160013794 160013794 single base substitution G A intron_variant MELA-AU 3 160013829 160013829 single base substitution A G downstream_gene_variant MELA-AU 3 160013829 160013829 single base substitution A G intron_variant MELA-AU 3 160014420 160014420 single base substitution A T downstream_gene_variant MELA-AU 3 160014420 160014420 single base substitution A T intron_variant MELA-AU 3 160014432 160014432 single base substitution C T downstream_gene_variant MELA-AU 3 160014432 160014432 single base substitution C T intron_variant MELA-AU 3 160014514 160014514 single base substitution T C downstream_gene_variant MELA-AU 3 160014514 160014514 single base substitution T C intron_variant MELA-AU 3 160014548 160014573 deletion of <=200bp AGACTATTTTTAGTCCTCACTCTAAG - downstream_gene_variant MELA-AU 3 160014548 160014573 deletion of <=200bp AGACTATTTTTAGTCCTCACTCTAAG - intron_variant MELA-AU 3 160014750 160014750 single base substitution G A downstream_gene_variant MELA-AU 3 160014750 160014750 single base substitution G A intron_variant MELA-AU 3 160015188 160015188 single base substitution G A downstream_gene_variant MELA-AU 3 160015188 160015188 single base substitution G A intron_variant MELA-AU 3 160015722 160015722 single base substitution G T downstream_gene_variant MELA-AU 3 160015722 160015722 single base substitution G T intron_variant MELA-AU 3 160016200 160016200 single base substitution C T downstream_gene_variant MELA-AU 3 160016200 160016200 single base substitution C T intron_variant MELA-AU 3 160016345 160016345 single base substitution G A downstream_gene_variant MELA-AU 3 160016345 160016345 single base substitution G A intron_variant MELA-AU 3 160017016 160017016 single base substitution G A 3_prime_UTR_variant MELA-AU 3 160017016 160017016 single base substitution G A downstream_gene_variant MELA-AU 3 160017016 160017016 single base substitution G A intron_variant MELA-AU 3 160017310 160017310 single base substitution G A downstream_gene_variant MELA-AU 3 160017310 160017310 single base substitution G A intron_variant MELA-AU 3 160017732 160017732 single base substitution G A downstream_gene_variant MELA-AU 3 160017732 160017732 single base substitution G A intron_variant MELA-AU 3 160018919 160018919 single base substitution G A downstream_gene_variant MELA-AU 3 160018919 160018919 single base substitution G A intron_variant MELA-AU 3 160018923 160018923 single base substitution A C downstream_gene_variant MELA-AU 3 160018923 160018923 single base substitution A C intron_variant MELA-AU 3 160018967 160018967 single base substitution G A downstream_gene_variant MELA-AU 3 160018967 160018967 single base substitution G A intron_variant MELA-AU 3 160019380 160019380 single base substitution G A downstream_gene_variant MELA-AU 3 160019380 160019380 single base substitution G A intron_variant MELA-AU 3 160019973 160019973 single base substitution C T downstream_gene_variant MELA-AU 3 160019973 160019973 single base substitution C T intron_variant MELA-AU 3 160020275 160020275 single base substitution C T downstream_gene_variant MELA-AU 3 160020275 160020275 single base substitution C T intron_variant MELA-AU 3 160021035 160021035 single base substitution G A downstream_gene_variant MELA-AU 3 160021035 160021035 single base substitution G A intron_variant MELA-AU 3 160021801 160021801 single base substitution T A intron_variant MELA-AU 3 160022109 160022109 single base substitution G A intron_variant MELA-AU 3 160022315 160022316 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 160022643 160022643 single base substitution G A intron_variant MELA-AU 3 160023409 160023409 single base substitution C G intron_variant MELA-AU 3 160024221 160024221 single base substitution G A intron_variant MELA-AU 3 160025121 160025121 single base substitution G A intron_variant MELA-AU 3 160025123 160025123 single base substitution G A intron_variant MELA-AU 3 160025408 160025408 single base substitution G A intron_variant MELA-AU 3 160026211 160026211 single base substitution G A intron_variant MELA-AU 3 160026211 160026211 single base substitution G A upstream_gene_variant MELA-AU 3 160026350 160026350 single base substitution G A intron_variant MELA-AU 3 160026350 160026350 single base substitution G A upstream_gene_variant MELA-AU 3 160026522 160026522 single base substitution G A intron_variant MELA-AU 3 160026522 160026522 single base substitution G A upstream_gene_variant MELA-AU 3 160026631 160026631 single base substitution G A intron_variant MELA-AU 3 160026631 160026631 single base substitution G A upstream_gene_variant MELA-AU 3 160026667 160026667 single base substitution C T intron_variant MELA-AU 3 160026667 160026667 single base substitution C T upstream_gene_variant MELA-AU 3 160026681 160026681 single base substitution C T intron_variant MELA-AU 3 160026681 160026681 single base substitution C T upstream_gene_variant MELA-AU 3 160027058 160027058 single base substitution G A intron_variant MELA-AU 3 160027058 160027058 single base substitution G A upstream_gene_variant MELA-AU 3 160027657 160027657 single base substitution G A intron_variant MELA-AU 3 160027657 160027657 single base substitution G A upstream_gene_variant MELA-AU 3 160027829 160027829 single base substitution C G intron_variant MELA-AU 3 160027829 160027829 single base substitution C G upstream_gene_variant MELA-AU 3 160027948 160027948 single base substitution G A intron_variant MELA-AU 3 160027948 160027948 single base substitution G A upstream_gene_variant MELA-AU 3 160028200 160028200 single base substitution G A intron_variant MELA-AU 3 160028200 160028200 single base substitution G A upstream_gene_variant MELA-AU 3 160028874 160028874 single base substitution C T intron_variant MELA-AU 3 160028874 160028874 single base substitution C T upstream_gene_variant MELA-AU 3 160030044 160030044 single base substitution C T intron_variant MELA-AU 3 160030044 160030044 single base substitution C T upstream_gene_variant MELA-AU 3 160030085 160030085 single base substitution G T intron_variant MELA-AU 3 160030085 160030085 single base substitution G T upstream_gene_variant MELA-AU 3 160031168 160031168 single base substitution T A intron_variant MELA-AU 3 160031537 160031537 single base substitution A G intron_variant MELA-AU 3 160032199 160032204 deletion of <=200bp GCTTCC - intron_variant MELA-AU 3 160033175 160033176 multiple base substitution (>=2bp and <=200bp) TC GT downstream_gene_variant MELA-AU 3 160033175 160033176 multiple base substitution (>=2bp and <=200bp) TC GT intron_variant MELA-AU 3 160033209 160033209 single base substitution G A downstream_gene_variant MELA-AU 3 160033209 160033209 single base substitution G A intron_variant MELA-AU 3 160033249 160033249 single base substitution G A downstream_gene_variant MELA-AU 3 160033249 160033249 single base substitution G A intron_variant MELA-AU 3 160033406 160033406 single base substitution T C downstream_gene_variant MELA-AU 3 160033406 160033406 single base substitution T C intron_variant MELA-AU 3 160033478 160033478 single base substitution C T downstream_gene_variant MELA-AU 3 160033478 160033478 single base substitution C T intron_variant MELA-AU 3 160033792 160033792 single base substitution C G downstream_gene_variant MELA-AU 3 160033792 160033792 single base substitution C G intron_variant MELA-AU 3 160034004 160034004 single base substitution A C downstream_gene_variant MELA-AU 3 160034004 160034004 single base substitution A C intron_variant MELA-AU 3 160034071 160034071 single base substitution T A downstream_gene_variant MELA-AU 3 160034071 160034071 single base substitution T A intron_variant MELA-AU 3 160035637 160035637 single base substitution G A downstream_gene_variant MELA-AU 3 160035637 160035637 single base substitution G A intron_variant MELA-AU 3 160035964 160035964 single base substitution G A downstream_gene_variant MELA-AU 3 160035964 160035964 single base substitution G A intron_variant MELA-AU 3 160036045 160036045 single base substitution G A downstream_gene_variant MELA-AU 3 160036045 160036045 single base substitution G A intron_variant MELA-AU 3 160036137 160036137 single base substitution T A downstream_gene_variant MELA-AU 3 160036137 160036137 single base substitution T A intron_variant MELA-AU 3 160036226 160036226 single base substitution A G downstream_gene_variant MELA-AU 3 160036226 160036226 single base substitution A G intron_variant MELA-AU 3 160036272 160036272 single base substitution G A downstream_gene_variant MELA-AU 3 160036272 160036272 single base substitution G A intron_variant MELA-AU 3 160036350 160036350 single base substitution G A downstream_gene_variant MELA-AU 3 160036350 160036350 single base substitution G A intron_variant MELA-AU 3 160037000 160037000 single base substitution G A downstream_gene_variant MELA-AU 3 160037000 160037000 single base substitution G A intron_variant MELA-AU 3 160037139 160037139 single base substitution G A downstream_gene_variant MELA-AU 3 160037139 160037139 single base substitution G A intron_variant MELA-AU 3 160037148 160037148 single base substitution A G downstream_gene_variant MELA-AU 3 160037148 160037148 single base substitution A G intron_variant MELA-AU 3 160037173 160037173 single base substitution A C downstream_gene_variant MELA-AU 3 160037173 160037173 single base substitution A C intron_variant MELA-AU 3 160037387 160037387 single base substitution T A downstream_gene_variant MELA-AU 3 160037387 160037387 single base substitution T A intron_variant MELA-AU 3 160037883 160037883 single base substitution G A exon_variant MELA-AU 3 160037883 160037883 single base substitution G A intron_variant MELA-AU 3 160038323 160038323 single base substitution G A intron_variant MELA-AU 3 160038323 160038323 single base substitution G A upstream_gene_variant MELA-AU 3 160038542 160038542 single base substitution G A intron_variant MELA-AU 3 160038542 160038542 single base substitution G A upstream_gene_variant MELA-AU 3 160038645 160038645 single base substitution G A intron_variant MELA-AU 3 160038645 160038645 single base substitution G A upstream_gene_variant MELA-AU 3 160039225 160039225 single base substitution G A intron_variant MELA-AU 3 160039225 160039225 single base substitution G A upstream_gene_variant MELA-AU 3 160039407 160039407 single base substitution G A intron_variant MELA-AU 3 160039407 160039407 single base substitution G A upstream_gene_variant MELA-AU 3 160039799 160039799 single base substitution T C intron_variant MELA-AU 3 160039799 160039799 single base substitution T C upstream_gene_variant MELA-AU 3 160040590 160040590 single base substitution T A intron_variant MELA-AU 3 160040590 160040590 single base substitution T A upstream_gene_variant MELA-AU 3 160041288 160041288 single base substitution G A intron_variant MELA-AU 3 160041288 160041288 single base substitution G A upstream_gene_variant MELA-AU 3 160041350 160041350 single base substitution G A intron_variant MELA-AU 3 160041350 160041350 single base substitution G A upstream_gene_variant MELA-AU 3 160041581 160041581 single base substitution G A intron_variant MELA-AU 3 160041581 160041581 single base substitution G A upstream_gene_variant MELA-AU 3 160042121 160042121 single base substitution G A intron_variant MELA-AU 3 160042121 160042121 single base substitution G A upstream_gene_variant MELA-AU 3 160042353 160042353 single base substitution G C intron_variant MELA-AU 3 160042353 160042353 single base substitution G C upstream_gene_variant MELA-AU 3 160043429 160043429 single base substitution G A intron_variant MELA-AU 3 160043935 160043935 single base substitution A T intron_variant MELA-AU 3 160045010 160045010 single base substitution A T intron_variant MELA-AU 3 160046157 160046157 single base substitution G A intron_variant MELA-AU 3 160046237 160046237 single base substitution G A intron_variant MELA-AU 3 160046791 160046791 single base substitution G A intron_variant MELA-AU 3 160046803 160046803 single base substitution G A intron_variant MELA-AU 3 160047014 160047014 single base substitution G A intron_variant MELA-AU 3 160047053 160047053 single base substitution A C intron_variant MELA-AU 3 160047866 160047866 single base substitution G A intron_variant MELA-AU 3 160048027 160048027 single base substitution C T intron_variant MELA-AU 3 160048827 160048827 single base substitution G A intron_variant MELA-AU 3 160048994 160048994 single base substitution G A intron_variant MELA-AU 3 160049101 160049101 single base substitution G A intron_variant MELA-AU 3 160049239 160049239 single base substitution G A intron_variant MELA-AU 3 160049470 160049470 single base substitution A T intron_variant MELA-AU 3 160050248 160050248 single base substitution G A intron_variant MELA-AU 3 160050361 160050361 single base substitution G A intron_variant MELA-AU 3 160050365 160050365 single base substitution G A intron_variant MELA-AU 3 160050893 160050893 single base substitution G A intron_variant MELA-AU 3 160051393 160051393 single base substitution C T intron_variant MELA-AU 3 160051889 160051889 single base substitution G A intron_variant MELA-AU 3 160051940 160051940 single base substitution T A intron_variant MELA-AU 3 160053043 160053043 single base substitution G A intron_variant MELA-AU 3 160053070 160053070 single base substitution G A intron_variant MELA-AU 3 160053099 160053099 single base substitution A G intron_variant MELA-AU 3 160053639 160053639 single base substitution C A intron_variant MELA-AU 3 160053887 160053887 single base substitution G A intron_variant MELA-AU 3 160054592 160054592 single base substitution G A intron_variant MELA-AU 3 160055190 160055190 single base substitution G A intron_variant MELA-AU 3 160055256 160055256 single base substitution G A intron_variant MELA-AU 3 160055529 160055529 single base substitution G A intron_variant MELA-AU 3 160055882 160055882 single base substitution G A intron_variant MELA-AU 3 160056349 160056349 single base substitution G A intron_variant MELA-AU 3 160056364 160056364 single base substitution G A intron_variant MELA-AU 3 160056407 160056407 single base substitution G A intron_variant MELA-AU 3 160057495 160057495 single base substitution G A intron_variant MELA-AU 3 160057763 160057763 single base substitution G A intron_variant MELA-AU 3 160057769 160057769 single base substitution C T intron_variant MELA-AU 3 160057771 160057771 single base substitution T C intron_variant MELA-AU 3 160058176 160058176 single base substitution G A intron_variant MELA-AU 3 160058663 160058663 single base substitution G A intron_variant MELA-AU 3 160059121 160059121 single base substitution T C intron_variant MELA-AU 3 160059510 160059510 single base substitution A G intron_variant MELA-AU 3 160060102 160060102 single base substitution G A intron_variant MELA-AU 3 160060200 160060200 single base substitution G A intron_variant MELA-AU 3 160060382 160060382 single base substitution G A intron_variant MELA-AU 3 160060468 160060468 single base substitution G A intron_variant MELA-AU 3 160060845 160060845 single base substitution G A intron_variant MELA-AU 3 160061376 160061376 single base substitution G A intron_variant MELA-AU 3 160061715 160061715 single base substitution G A intron_variant MELA-AU 3 160061803 160061803 single base substitution T G intron_variant MELA-AU 3 160062284 160062284 single base substitution G A intron_variant MELA-AU 3 160062430 160062430 single base substitution A G intron_variant MELA-AU 3 160062715 160062715 single base substitution A T intron_variant MELA-AU 3 160062950 160062950 single base substitution G A intron_variant MELA-AU 3 160063538 160063538 single base substitution G A intron_variant MELA-AU 3 160063587 160063587 single base substitution C T intron_variant MELA-AU 3 160063723 160063723 single base substitution G A intron_variant MELA-AU 3 160064075 160064075 single base substitution G A intron_variant MELA-AU 3 160065439 160065439 single base substitution C T intron_variant MELA-AU 3 160066704 160066704 single base substitution A C intron_variant MELA-AU 3 160066718 160066718 single base substitution G A intron_variant MELA-AU 3 160067097 160067100 deletion of <=200bp TACT - intron_variant MELA-AU 3 160067220 160067220 single base substitution G A intron_variant MELA-AU 3 160067283 160067283 single base substitution G A intron_variant MELA-AU 3 160067472 160067473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160067746 160067746 single base substitution C T intron_variant MELA-AU 3 160068158 160068158 single base substitution A G intron_variant MELA-AU 3 160068984 160068984 single base substitution T C downstream_gene_variant MELA-AU 3 160068984 160068984 single base substitution T C intron_variant MELA-AU 3 160069995 160069995 single base substitution G A downstream_gene_variant MELA-AU 3 160069995 160069995 single base substitution G A intron_variant MELA-AU 3 160070307 160070307 single base substitution C T downstream_gene_variant MELA-AU 3 160070307 160070307 single base substitution C T intron_variant MELA-AU 3 160070479 160070479 single base substitution G A downstream_gene_variant MELA-AU 3 160070479 160070479 single base substitution G A intron_variant MELA-AU 3 160070781 160070781 single base substitution C T downstream_gene_variant MELA-AU 3 160070781 160070781 single base substitution C T intron_variant MELA-AU 3 160071187 160071187 single base substitution G A downstream_gene_variant MELA-AU 3 160071187 160071187 single base substitution G A intron_variant MELA-AU 3 160071707 160071707 single base substitution G A downstream_gene_variant MELA-AU 3 160071707 160071707 single base substitution G A intron_variant MELA-AU 3 160072105 160072105 single base substitution G T downstream_gene_variant MELA-AU 3 160072105 160072105 single base substitution G T intron_variant MELA-AU 3 160072360 160072360 single base substitution G A downstream_gene_variant MELA-AU 3 160072360 160072360 single base substitution G A intron_variant MELA-AU 3 160072618 160072618 single base substitution G A downstream_gene_variant MELA-AU 3 160072618 160072618 single base substitution G A intron_variant MELA-AU 3 160072631 160072631 single base substitution G A downstream_gene_variant MELA-AU 3 160072631 160072631 single base substitution G A intron_variant MELA-AU 3 160072954 160072954 single base substitution G A downstream_gene_variant MELA-AU 3 160072954 160072954 single base substitution G A intron_variant MELA-AU 3 160072979 160072979 single base substitution G A downstream_gene_variant MELA-AU 3 160072979 160072979 single base substitution G A intron_variant MELA-AU 3 160073297 160073297 single base substitution C T downstream_gene_variant MELA-AU 3 160073297 160073297 single base substitution C T intron_variant MELA-AU 3 160074141 160074141 single base substitution G A downstream_gene_variant MELA-AU 3 160074141 160074141 single base substitution G A intron_variant MELA-AU 3 160074476 160074476 single base substitution A C downstream_gene_variant MELA-AU 3 160074476 160074476 single base substitution A C intron_variant MELA-AU 3 160074750 160074750 single base substitution G A downstream_gene_variant MELA-AU 3 160074750 160074750 single base substitution G A intron_variant MELA-AU 3 160075128 160075128 single base substitution A T downstream_gene_variant MELA-AU 3 160075128 160075128 single base substitution A T intron_variant MELA-AU 3 160076278 160076278 single base substitution C T intron_variant MELA-AU 3 160076278 160076278 single base substitution C T upstream_gene_variant MELA-AU 3 160076367 160076367 single base substitution G A intron_variant MELA-AU 3 160076367 160076367 single base substitution G A upstream_gene_variant MELA-AU 3 160076802 160076802 single base substitution T A intron_variant MELA-AU 3 160076802 160076802 single base substitution T A upstream_gene_variant MELA-AU 3 160076939 160076940 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160076939 160076940 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 160077564 160077564 single base substitution G A intron_variant MELA-AU 3 160077564 160077564 single base substitution G A upstream_gene_variant MELA-AU 3 160077685 160077685 single base substitution G A intron_variant MELA-AU 3 160077685 160077685 single base substitution G A upstream_gene_variant MELA-AU 3 160078032 160078032 single base substitution G A intron_variant MELA-AU 3 160078032 160078032 single base substitution G A upstream_gene_variant MELA-AU 3 160078136 160078136 single base substitution G A intron_variant MELA-AU 3 160078136 160078136 single base substitution G A upstream_gene_variant MELA-AU 3 160078258 160078258 single base substitution G A intron_variant MELA-AU 3 160078258 160078258 single base substitution G A upstream_gene_variant MELA-AU 3 160078368 160078368 single base substitution G A intron_variant MELA-AU 3 160078368 160078368 single base substitution G A upstream_gene_variant MELA-AU 3 160078418 160078418 single base substitution G A intron_variant MELA-AU 3 160078418 160078418 single base substitution G A upstream_gene_variant MELA-AU 3 160078510 160078510 single base substitution G A intron_variant MELA-AU 3 160078510 160078510 single base substitution G A upstream_gene_variant MELA-AU 3 160079184 160079184 single base substitution A T downstream_gene_variant MELA-AU 3 160079184 160079184 single base substitution A T intron_variant MELA-AU 3 160079184 160079184 single base substitution A T upstream_gene_variant MELA-AU 3 160079186 160079186 single base substitution G A downstream_gene_variant MELA-AU 3 160079186 160079186 single base substitution G A intron_variant MELA-AU 3 160079186 160079186 single base substitution G A upstream_gene_variant MELA-AU 3 160079411 160079411 single base substitution G A downstream_gene_variant MELA-AU 3 160079411 160079411 single base substitution G A intron_variant MELA-AU 3 160079411 160079411 single base substitution G A upstream_gene_variant MELA-AU 3 160079578 160079578 single base substitution G A downstream_gene_variant MELA-AU 3 160079578 160079578 single base substitution G A intron_variant MELA-AU 3 160079578 160079578 single base substitution G A upstream_gene_variant MELA-AU 3 160080236 160080236 single base substitution G A downstream_gene_variant MELA-AU 3 160080236 160080236 single base substitution G A intron_variant MELA-AU 3 160080236 160080236 single base substitution G A upstream_gene_variant MELA-AU 3 160080284 160080284 single base substitution G A downstream_gene_variant MELA-AU 3 160080284 160080284 single base substitution G A intron_variant MELA-AU 3 160080284 160080284 single base substitution G A upstream_gene_variant MELA-AU 3 160080493 160080494 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 160080493 160080494 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160080847 160080847 single base substitution G A downstream_gene_variant MELA-AU 3 160080847 160080847 single base substitution G A intron_variant MELA-AU 3 160080954 160080954 single base substitution A C downstream_gene_variant MELA-AU 3 160080954 160080954 single base substitution A C intron_variant MELA-AU 3 160081131 160081131 single base substitution C T downstream_gene_variant MELA-AU 3 160081131 160081131 single base substitution C T intron_variant MELA-AU 3 160081168 160081168 single base substitution G A downstream_gene_variant MELA-AU 3 160081168 160081168 single base substitution G A intron_variant MELA-AU 3 160081662 160081662 single base substitution C T downstream_gene_variant MELA-AU 3 160081662 160081662 single base substitution C T intron_variant MELA-AU 3 160081702 160081702 single base substitution A T downstream_gene_variant MELA-AU 3 160081702 160081702 single base substitution A T intron_variant MELA-AU 3 160082132 160082132 single base substitution C T downstream_gene_variant MELA-AU 3 160082132 160082132 single base substitution C T intron_variant MELA-AU 3 160082219 160082219 single base substitution G A downstream_gene_variant MELA-AU 3 160082219 160082219 single base substitution G A intron_variant MELA-AU 3 160082508 160082508 single base substitution G A downstream_gene_variant MELA-AU 3 160082508 160082508 single base substitution G A intron_variant MELA-AU 3 160083469 160083469 single base substitution G A downstream_gene_variant MELA-AU 3 160083469 160083469 single base substitution G A intron_variant MELA-AU 3 160084197 160084197 single base substitution G A intron_variant MELA-AU 3 160085508 160085508 single base substitution G A intron_variant MELA-AU 3 160085600 160085600 single base substitution G A intron_variant MELA-AU 3 160088227 160088227 single base substitution C T downstream_gene_variant MELA-AU 3 160088227 160088227 single base substitution C T intron_variant MELA-AU 3 160089993 160089993 single base substitution A G downstream_gene_variant MELA-AU 3 160089993 160089993 single base substitution A G intron_variant MELA-AU 3 160091383 160091383 single base substitution G A downstream_gene_variant MELA-AU 3 160091383 160091383 single base substitution G A exon_variant MELA-AU 3 160091383 160091383 single base substitution G A intron_variant MELA-AU 3 160091622 160091622 single base substitution G A downstream_gene_variant MELA-AU 3 160091622 160091622 single base substitution G A intron_variant MELA-AU 3 160092007 160092007 single base substitution G A downstream_gene_variant MELA-AU 3 160092007 160092007 single base substitution G A intron_variant MELA-AU 3 160092255 160092255 single base substitution G A downstream_gene_variant MELA-AU 3 160092255 160092255 single base substitution G A intron_variant MELA-AU 3 160092560 160092560 single base substitution C T downstream_gene_variant MELA-AU 3 160092560 160092560 single base substitution C T intron_variant MELA-AU 3 160092832 160092832 single base substitution G A downstream_gene_variant MELA-AU 3 160092832 160092832 single base substitution G A intron_variant MELA-AU 3 160093478 160093478 single base substitution C G downstream_gene_variant MELA-AU 3 160093478 160093478 single base substitution C G intron_variant MELA-AU 3 160093534 160093534 single base substitution G A downstream_gene_variant MELA-AU 3 160093534 160093534 single base substitution G A intron_variant MELA-AU 3 160093576 160093576 single base substitution G A downstream_gene_variant MELA-AU 3 160093576 160093576 single base substitution G A intron_variant MELA-AU 3 160095320 160095320 single base substitution G A 3_prime_UTR_variant MELA-AU 3 160095320 160095320 single base substitution G A 5_prime_UTR_variant MELA-AU 3 160095320 160095320 single base substitution G A downstream_gene_variant MELA-AU 3 160095320 160095320 single base substitution G A exon_variant MELA-AU 3 160095320 160095320 single base substitution G A intron_variant MELA-AU 3 160095320 160095320 single base substitution G A missense_variant H90Y 268C>T MELA-AU 3 160095320 160095320 single base substitution G A upstream_gene_variant MELA-AU 3 160095518 160095518 single base substitution G A downstream_gene_variant MELA-AU 3 160095518 160095518 single base substitution G A intron_variant MELA-AU 3 160095518 160095518 single base substitution G A upstream_gene_variant MELA-AU 3 160096432 160096432 deletion of <=200bp T - downstream_gene_variant MELA-AU 3 160096432 160096432 deletion of <=200bp T - intron_variant MELA-AU 3 160096432 160096432 deletion of <=200bp T - upstream_gene_variant MELA-AU 3 160096660 160096660 single base substitution G A downstream_gene_variant MELA-AU 3 160096660 160096660 single base substitution G A intron_variant MELA-AU 3 160096660 160096660 single base substitution G A upstream_gene_variant MELA-AU 3 160096678 160096678 single base substitution T G downstream_gene_variant MELA-AU 3 160096678 160096678 single base substitution T G intron_variant MELA-AU 3 160096678 160096678 single base substitution T G upstream_gene_variant MELA-AU 3 160096747 160096747 single base substitution C G downstream_gene_variant MELA-AU 3 160096747 160096747 single base substitution C G intron_variant MELA-AU 3 160096747 160096747 single base substitution C G upstream_gene_variant MELA-AU 3 160097144 160097144 single base substitution A T downstream_gene_variant MELA-AU 3 160097144 160097144 single base substitution A T intron_variant MELA-AU 3 160097144 160097144 single base substitution A T upstream_gene_variant MELA-AU 3 160097909 160097909 single base substitution A C downstream_gene_variant MELA-AU 3 160097909 160097909 single base substitution A C intron_variant MELA-AU 3 160097909 160097909 single base substitution A C upstream_gene_variant MELA-AU 3 160098144 160098144 single base substitution A T downstream_gene_variant MELA-AU 3 160098144 160098144 single base substitution A T intron_variant MELA-AU 3 160098144 160098144 single base substitution A T upstream_gene_variant MELA-AU 3 160098441 160098441 single base substitution A T downstream_gene_variant MELA-AU 3 160098441 160098441 single base substitution A T intron_variant MELA-AU 3 160098441 160098441 single base substitution A T upstream_gene_variant MELA-AU 3 160098578 160098578 single base substitution A C downstream_gene_variant MELA-AU 3 160098578 160098578 single base substitution A C intron_variant MELA-AU 3 160098578 160098578 single base substitution A C upstream_gene_variant MELA-AU 3 160098795 160098795 single base substitution G A downstream_gene_variant MELA-AU 3 160098795 160098795 single base substitution G A intron_variant MELA-AU 3 160098795 160098795 single base substitution G A upstream_gene_variant MELA-AU 3 160099060 160099060 single base substitution C T downstream_gene_variant MELA-AU 3 160099060 160099060 single base substitution C T intron_variant MELA-AU 3 160099060 160099060 single base substitution C T upstream_gene_variant MELA-AU 3 160099307 160099307 single base substitution G A 5_prime_UTR_variant MELA-AU 3 160099307 160099307 single base substitution G A downstream_gene_variant MELA-AU 3 160099307 160099307 single base substitution G A exon_variant MELA-AU 3 160099307 160099307 single base substitution G A intron_variant MELA-AU 3 160099307 160099307 single base substitution G A synonymous_variant V81V 243C>T MELA-AU 3 160099307 160099307 single base substitution G A upstream_gene_variant MELA-AU 3 160099572 160099572 single base substitution C T downstream_gene_variant MELA-AU 3 160099572 160099572 single base substitution C T intron_variant MELA-AU 3 160099572 160099572 single base substitution C T upstream_gene_variant MELA-AU 3 160099742 160099742 single base substitution G A downstream_gene_variant MELA-AU 3 160099742 160099742 single base substitution G A intron_variant MELA-AU 3 160099742 160099742 single base substitution G A upstream_gene_variant MELA-AU 3 160099891 160099891 single base substitution A C downstream_gene_variant MELA-AU 3 160099891 160099891 single base substitution A C intron_variant MELA-AU 3 160099891 160099891 single base substitution A C upstream_gene_variant MELA-AU 3 160099967 160099967 single base substitution G A downstream_gene_variant MELA-AU 3 160099967 160099967 single base substitution G A intron_variant MELA-AU 3 160099967 160099967 single base substitution G A upstream_gene_variant MELA-AU 3 160100158 160100158 single base substitution C T downstream_gene_variant MELA-AU 3 160100158 160100158 single base substitution C T intron_variant MELA-AU 3 160100158 160100158 single base substitution C T upstream_gene_variant MELA-AU 3 160100479 160100479 single base substitution G A downstream_gene_variant MELA-AU 3 160100479 160100479 single base substitution G A intron_variant MELA-AU 3 160101059 160101059 single base substitution G A downstream_gene_variant MELA-AU 3 160101059 160101059 single base substitution G A intron_variant MELA-AU 3 160101847 160101847 single base substitution A C downstream_gene_variant MELA-AU 3 160101847 160101847 single base substitution A C exon_variant MELA-AU 3 160101847 160101847 single base substitution A C intron_variant MELA-AU 3 160101847 160101847 single base substitution A C upstream_gene_variant MELA-AU 3 160102327 160102327 single base substitution A C 5_prime_UTR_variant MELA-AU 3 160102327 160102327 single base substitution A C downstream_gene_variant MELA-AU 3 160102327 160102327 single base substitution A C exon_variant MELA-AU 3 160102327 160102327 single base substitution A C intron_variant MELA-AU 3 160102327 160102327 single base substitution A C upstream_gene_variant MELA-AU 3 160102673 160102673 single base substitution G A intron_variant MELA-AU 3 160102673 160102673 single base substitution G A upstream_gene_variant MELA-AU 3 160103046 160103046 single base substitution G A intron_variant MELA-AU 3 160103046 160103046 single base substitution G A upstream_gene_variant MELA-AU 3 160103092 160103092 single base substitution T G intron_variant MELA-AU 3 160103092 160103092 single base substitution T G upstream_gene_variant MELA-AU 3 160103202 160103202 single base substitution G T intron_variant MELA-AU 3 160103202 160103202 single base substitution G T upstream_gene_variant MELA-AU 3 160103393 160103393 single base substitution C T intron_variant MELA-AU 3 160103393 160103393 single base substitution C T upstream_gene_variant MELA-AU 3 160103559 160103559 single base substitution C T intron_variant MELA-AU 3 160103559 160103559 single base substitution C T upstream_gene_variant MELA-AU 3 160103652 160103652 single base substitution A T intron_variant MELA-AU 3 160103652 160103652 single base substitution A T upstream_gene_variant MELA-AU 3 160103997 160103997 single base substitution C T intron_variant MELA-AU 3 160103997 160103997 single base substitution C T upstream_gene_variant MELA-AU 3 160104227 160104227 single base substitution T A intron_variant MELA-AU 3 160104227 160104227 single base substitution T A upstream_gene_variant MELA-AU 3 160104320 160104320 single base substitution C T intron_variant MELA-AU 3 160104320 160104320 single base substitution C T upstream_gene_variant MELA-AU 3 160104391 160104391 single base substitution G A intron_variant MELA-AU 3 160104391 160104391 single base substitution G A upstream_gene_variant MELA-AU 3 160104459 160104459 single base substitution C T intron_variant MELA-AU 3 160104459 160104459 single base substitution C T upstream_gene_variant MELA-AU 3 160105464 160105464 single base substitution G A intron_variant MELA-AU 3 160105464 160105464 single base substitution G A upstream_gene_variant MELA-AU 3 160105503 160105504 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160105503 160105504 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 3 160105610 160105610 single base substitution G A intron_variant MELA-AU 3 160105610 160105610 single base substitution G A upstream_gene_variant MELA-AU 3 160105995 160105995 single base substitution G A intron_variant MELA-AU 3 160105995 160105995 single base substitution G A upstream_gene_variant MELA-AU 3 160106600 160106600 single base substitution A T intron_variant MELA-AU 3 160106944 160106944 single base substitution G A intron_variant MELA-AU 3 160107047 160107047 single base substitution G A intron_variant MELA-AU 3 160107784 160107784 single base substitution G A intron_variant MELA-AU 3 160108132 160108132 single base substitution G A intron_variant MELA-AU 3 160108308 160108308 single base substitution G C intron_variant MELA-AU 3 160108633 160108633 single base substitution G A intron_variant MELA-AU 3 160108825 160108825 single base substitution T C intron_variant MELA-AU 3 160109626 160109626 single base substitution A G intron_variant MELA-AU 3 160109649 160109649 single base substitution G A intron_variant MELA-AU 3 160110414 160110414 single base substitution C T intron_variant MELA-AU 3 160111321 160111321 single base substitution G A intron_variant MELA-AU 3 160111581 160111581 single base substitution C T intron_variant MELA-AU 3 160111752 160111752 deletion of <=200bp A - intron_variant MELA-AU 3 160111757 160111757 single base substitution A G intron_variant MELA-AU 3 160111850 160111850 single base substitution A G intron_variant MELA-AU 3 160112017 160112017 single base substitution T A 5_prime_UTR_variant MELA-AU 3 160112017 160112017 single base substitution T A intron_variant MELA-AU 3 160112383 160112383 single base substitution G A intron_variant MELA-AU 3 160112444 160112444 single base substitution G A intron_variant MELA-AU 3 160113905 160113905 single base substitution G A intron_variant MELA-AU 3 160113907 160113907 single base substitution A G intron_variant MELA-AU 3 160114599 160114599 single base substitution T C intron_variant MELA-AU 3 160115698 160115699 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160115955 160115955 single base substitution T A intron_variant MELA-AU 3 160117018 160117018 single base substitution C T 5_prime_UTR_variant MELA-AU 3 160117018 160117018 single base substitution C T exon_variant MELA-AU 3 160117018 160117018 single base substitution C T intron_variant MELA-AU 3 160117018 160117018 single base substitution C T upstream_gene_variant MELA-AU 3 160118233 160118233 single base substitution G A upstream_gene_variant MELA-AU 3 160118403 160118403 single base substitution C T upstream_gene_variant MELA-AU 3 160119512 160119512 single base substitution T C upstream_gene_variant MELA-AU 3 160120023 160120023 single base substitution T A upstream_gene_variant MELA-AU 3 160121263 160121263 single base substitution T G upstream_gene_variant MELA-AU 3 160121871 160121871 single base substitution C T upstream_gene_variant ORCA-IN 3 159985539 159985539 single base substitution G C intron_variant ORCA-IN 3 159998305 159998305 single base substitution C T intron_variant ORCA-IN 3 159998305 159998305 single base substitution C T upstream_gene_variant ORCA-IN 3 160029614 160029614 single base substitution G C intron_variant ORCA-IN 3 160029614 160029614 single base substitution G C upstream_gene_variant ORCA-IN 3 160034697 160034697 single base substitution G A downstream_gene_variant ORCA-IN 3 160034697 160034697 single base substitution G A intron_variant ORCA-IN 3 160114529 160114529 single base substitution C G intron_variant ORCA-IN 3 160116265 160116265 single base substitution G C intron_variant ORCA-IN 3 160120023 160120023 insertion of <=200bp - CA upstream_gene_variant OV-AU 3 159973689 159973689 single base substitution G C downstream_gene_variant OV-AU 3 159975109 159975109 single base substitution C T 3_prime_UTR_variant OV-AU 3 159975109 159975109 single base substitution C T downstream_gene_variant OV-AU 3 159976953 159976953 single base substitution C A intron_variant OV-AU 3 159990925 159990925 single base substitution T C intron_variant OV-AU 3 159990925 159990925 single base substitution T C upstream_gene_variant OV-AU 3 159991738 159991738 single base substitution C A intron_variant OV-AU 3 160001299 160001299 single base substitution T A intron_variant OV-AU 3 160003002 160003002 single base substitution T C intron_variant OV-AU 3 160003746 160003746 single base substitution T G intron_variant OV-AU 3 160004217 160004217 single base substitution A C intron_variant OV-AU 3 160004976 160004976 single base substitution A T intron_variant OV-AU 3 160005334 160005334 single base substitution A C intron_variant OV-AU 3 160011561 160011561 single base substitution C A intron_variant OV-AU 3 160017046 160017046 single base substitution C T 3_prime_UTR_variant OV-AU 3 160017046 160017046 single base substitution C T downstream_gene_variant OV-AU 3 160017046 160017046 single base substitution C T intron_variant OV-AU 3 160024593 160024593 single base substitution C T intron_variant OV-AU 3 160027416 160027416 single base substitution A C intron_variant OV-AU 3 160027416 160027416 single base substitution A C upstream_gene_variant OV-AU 3 160041473 160041473 single base substitution A G intron_variant OV-AU 3 160041473 160041473 single base substitution A G upstream_gene_variant OV-AU 3 160041671 160041671 single base substitution A T intron_variant OV-AU 3 160041671 160041671 single base substitution A T upstream_gene_variant OV-AU 3 160043966 160043966 single base substitution T C intron_variant OV-AU 3 160044506 160044506 single base substitution G A intron_variant OV-AU 3 160048155 160048155 single base substitution A G intron_variant OV-AU 3 160050723 160050723 single base substitution A C intron_variant OV-AU 3 160050769 160050769 single base substitution T C intron_variant OV-AU 3 160052487 160052487 single base substitution G C intron_variant OV-AU 3 160054695 160054695 single base substitution T A intron_variant OV-AU 3 160069144 160069144 single base substitution G C downstream_gene_variant OV-AU 3 160069144 160069144 single base substitution G C intron_variant OV-AU 3 160079197 160079197 single base substitution T A downstream_gene_variant OV-AU 3 160079197 160079197 single base substitution T A intron_variant OV-AU 3 160079197 160079197 single base substitution T A upstream_gene_variant OV-AU 3 160082955 160082955 single base substitution T A downstream_gene_variant OV-AU 3 160082955 160082955 single base substitution T A intron_variant OV-AU 3 160082956 160082956 single base substitution C T downstream_gene_variant OV-AU 3 160082956 160082956 single base substitution C T intron_variant OV-AU 3 160085692 160085692 single base substitution T A intron_variant OV-AU 3 160090491 160090491 single base substitution T A downstream_gene_variant OV-AU 3 160090491 160090491 single base substitution T A intron_variant OV-AU 3 160091627 160091627 single base substitution T C downstream_gene_variant OV-AU 3 160091627 160091627 single base substitution T C intron_variant OV-AU 3 160097641 160097641 single base substitution A G downstream_gene_variant OV-AU 3 160097641 160097641 single base substitution A G intron_variant OV-AU 3 160097641 160097641 single base substitution A G upstream_gene_variant OV-AU 3 160097697 160097697 single base substitution T C downstream_gene_variant OV-AU 3 160097697 160097697 single base substitution T C intron_variant OV-AU 3 160097697 160097697 single base substitution T C upstream_gene_variant OV-AU 3 160099358 160099358 single base substitution C G 5_prime_UTR_variant OV-AU 3 160099358 160099358 single base substitution C G downstream_gene_variant OV-AU 3 160099358 160099358 single base substitution C G exon_variant OV-AU 3 160099358 160099358 single base substitution C G intron_variant OV-AU 3 160099358 160099358 single base substitution C G missense_variant W64C 192G>C OV-AU 3 160099358 160099358 single base substitution C G splice_region_variant OV-AU 3 160099358 160099358 single base substitution C G upstream_gene_variant OV-AU 3 160106019 160106019 single base substitution T C intron_variant OV-AU 3 160106019 160106019 single base substitution T C upstream_gene_variant OV-AU 3 160116381 160116381 single base substitution C A intron_variant OV-AU 3 160118593 160118593 single base substitution C T upstream_gene_variant OV-AU 3 160120994 160120994 single base substitution C A upstream_gene_variant PACA-AU 3 159979985 159979985 deletion of <=200bp A - intron_variant PACA-AU 3 159982869 159982869 single base substitution C T intron_variant PACA-AU 3 159987937 159987937 single base substitution C T intron_variant PACA-AU 3 159987937 159987937 single base substitution C T upstream_gene_variant PACA-AU 3 159990765 159990765 single base substitution A G intron_variant PACA-AU 3 159990765 159990765 single base substitution A G upstream_gene_variant PACA-AU 3 159993823 159993823 deletion of <=200bp T - intron_variant PACA-AU 3 159999238 159999238 single base substitution G A intron_variant PACA-AU 3 159999238 159999238 single base substitution G A upstream_gene_variant PACA-AU 3 160005275 160005275 single base substitution G A intron_variant PACA-AU 3 160008515 160008515 single base substitution A T intron_variant PACA-AU 3 160010707 160010707 single base substitution C G intron_variant PACA-AU 3 160012140 160012140 single base substitution C T downstream_gene_variant PACA-AU 3 160012140 160012140 single base substitution C T intron_variant PACA-AU 3 160015679 160015679 single base substitution C T downstream_gene_variant PACA-AU 3 160015679 160015679 single base substitution C T intron_variant PACA-AU 3 160020444 160020444 single base substitution G C downstream_gene_variant PACA-AU 3 160020444 160020444 single base substitution G C intron_variant PACA-AU 3 160021791 160021791 single base substitution A G intron_variant PACA-AU 3 160024375 160024375 single base substitution A G intron_variant PACA-AU 3 160040330 160040330 single base substitution T C intron_variant PACA-AU 3 160040330 160040330 single base substitution T C upstream_gene_variant PACA-AU 3 160043411 160043411 single base substitution G T intron_variant PACA-AU 3 160050777 160050777 single base substitution C T intron_variant PACA-AU 3 160067281 160067281 single base substitution G A intron_variant PACA-AU 3 160100731 160100731 single base substitution A G downstream_gene_variant PACA-AU 3 160100731 160100731 single base substitution A G intron_variant PACA-AU 3 160101528 160101528 single base substitution C A downstream_gene_variant PACA-AU 3 160101528 160101528 single base substitution C A exon_variant PACA-AU 3 160101528 160101528 single base substitution C A intron_variant PACA-AU 3 160101528 160101528 single base substitution C A upstream_gene_variant PACA-AU 3 160104530 160104530 single base substitution A C intron_variant PACA-AU 3 160104530 160104530 single base substitution A C upstream_gene_variant PACA-AU 3 160116030 160116030 deletion of <=200bp G - intron_variant PACA-CA 3 159971631 159971631 single base substitution A C downstream_gene_variant PACA-CA 3 159975370 159975370 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 3 159975370 159975370 insertion of <=200bp - T downstream_gene_variant PACA-CA 3 159975879 159975879 single base substitution A C 3_prime_UTR_variant PACA-CA 3 159975879 159975879 single base substitution A C downstream_gene_variant PACA-CA 3 159977155 159977155 single base substitution A G intron_variant PACA-CA 3 159979607 159979607 single base substitution G A intron_variant PACA-CA 3 159981372 159981372 single base substitution T C intron_variant PACA-CA 3 159985554 159985554 single base substitution T G intron_variant PACA-CA 3 159988126 159988126 single base substitution T A intron_variant PACA-CA 3 159988126 159988126 single base substitution T A upstream_gene_variant PACA-CA 3 159989189 159989189 single base substitution C T intron_variant PACA-CA 3 159989189 159989189 single base substitution C T upstream_gene_variant PACA-CA 3 159992286 159992286 single base substitution A C intron_variant PACA-CA 3 159998592 159998592 single base substitution C T exon_variant PACA-CA 3 159998592 159998592 single base substitution C T synonymous_variant V372V 1116G>A PACA-CA 3 159998592 159998592 single base substitution C T synonymous_variant V509V 1527G>A PACA-CA 3 159998592 159998592 single base substitution C T upstream_gene_variant PACA-CA 3 160000130 160000130 single base substitution A T intron_variant PACA-CA 3 160000130 160000130 single base substitution A T upstream_gene_variant PACA-CA 3 160002314 160002354 deletion of <=200bp CACAATACTTATTAAAATTACAAATTCTCATATCCTTTGAC - intron_variant PACA-CA 3 160009192 160009192 single base substitution A G intron_variant PACA-CA 3 160011536 160011536 single base substitution G A intron_variant PACA-CA 3 160013991 160013991 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 160013991 160013991 insertion of <=200bp - A intron_variant PACA-CA 3 160017517 160017517 single base substitution G A downstream_gene_variant PACA-CA 3 160017517 160017517 single base substitution G A intron_variant PACA-CA 3 160018454 160018454 single base substitution T A downstream_gene_variant PACA-CA 3 160018454 160018454 single base substitution T A intron_variant PACA-CA 3 160018919 160018919 insertion of <=200bp - A downstream_gene_variant PACA-CA 3 160018919 160018919 insertion of <=200bp - A intron_variant PACA-CA 3 160022329 160022329 single base substitution T C intron_variant PACA-CA 3 160022390 160022390 insertion of <=200bp - T intron_variant PACA-CA 3 160022789 160022789 single base substitution T C intron_variant PACA-CA 3 160024641 160024641 single base substitution A G intron_variant PACA-CA 3 160026364 160026364 deletion of <=200bp A - intron_variant PACA-CA 3 160026364 160026364 deletion of <=200bp A - upstream_gene_variant PACA-CA 3 160027242 160027242 single base substitution G T intron_variant PACA-CA 3 160027242 160027242 single base substitution G T upstream_gene_variant PACA-CA 3 160027735 160027735 single base substitution T G intron_variant PACA-CA 3 160027735 160027735 single base substitution T G upstream_gene_variant PACA-CA 3 160028866 160028866 single base substitution C T intron_variant PACA-CA 3 160028866 160028866 single base substitution C T upstream_gene_variant PACA-CA 3 160032463 160032463 single base substitution G T intron_variant PACA-CA 3 160034500 160034500 single base substitution C T downstream_gene_variant PACA-CA 3 160034500 160034500 single base substitution C T intron_variant PACA-CA 3 160034574 160034574 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 160034574 160034574 deletion of <=200bp A - intron_variant PACA-CA 3 160034574 160034574 single base substitution A G downstream_gene_variant PACA-CA 3 160034574 160034574 single base substitution A G intron_variant PACA-CA 3 160039219 160039219 single base substitution G C intron_variant PACA-CA 3 160039219 160039219 single base substitution G C upstream_gene_variant PACA-CA 3 160041760 160041760 single base substitution A G intron_variant PACA-CA 3 160041760 160041760 single base substitution A G upstream_gene_variant PACA-CA 3 160043059 160043059 deletion of <=200bp A - intron_variant PACA-CA 3 160043748 160043748 single base substitution T C intron_variant PACA-CA 3 160048414 160048414 single base substitution A G intron_variant PACA-CA 3 160048841 160048841 single base substitution C A intron_variant PACA-CA 3 160049162 160049162 single base substitution A C intron_variant PACA-CA 3 160057521 160057521 single base substitution C G intron_variant PACA-CA 3 160058026 160058026 single base substitution C G intron_variant PACA-CA 3 160058271 160058271 single base substitution C G intron_variant PACA-CA 3 160059580 160059580 single base substitution G T intron_variant PACA-CA 3 160063823 160063823 single base substitution A G intron_variant PACA-CA 3 160064160 160064160 single base substitution T C intron_variant PACA-CA 3 160064195 160064195 insertion of <=200bp - A intron_variant PACA-CA 3 160068620 160068620 single base substitution T C intron_variant PACA-CA 3 160072459 160072459 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 160072459 160072459 deletion of <=200bp A - intron_variant PACA-CA 3 160074759 160074759 single base substitution C T downstream_gene_variant PACA-CA 3 160074759 160074759 single base substitution C T intron_variant PACA-CA 3 160076738 160076738 single base substitution T A intron_variant PACA-CA 3 160076738 160076738 single base substitution T A upstream_gene_variant PACA-CA 3 160079758 160079758 single base substitution G C downstream_gene_variant PACA-CA 3 160079758 160079758 single base substitution G C intron_variant PACA-CA 3 160079758 160079758 single base substitution G C upstream_gene_variant PACA-CA 3 160085196 160085196 single base substitution A G intron_variant PACA-CA 3 160092202 160092202 single base substitution A G downstream_gene_variant PACA-CA 3 160092202 160092202 single base substitution A G intron_variant PACA-CA 3 160097214 160097214 single base substitution G A downstream_gene_variant PACA-CA 3 160097214 160097214 single base substitution G A intron_variant PACA-CA 3 160097214 160097214 single base substitution G A upstream_gene_variant PACA-CA 3 160101083 160101083 single base substitution T A downstream_gene_variant PACA-CA 3 160101083 160101083 single base substitution T A intron_variant PACA-CA 3 160104889 160104889 single base substitution G A intron_variant PACA-CA 3 160104889 160104889 single base substitution G A upstream_gene_variant PACA-CA 3 160112002 160112002 single base substitution A G 5_prime_UTR_variant PACA-CA 3 160112002 160112002 single base substitution A G intron_variant PACA-CA 3 160112382 160112382 single base substitution T A intron_variant PACA-CA 3 160113773 160113773 deletion of <=200bp C - intron_variant PACA-CA 3 160116076 160116076 single base substitution C A intron_variant PACA-CA 3 160117462 160117462 single base substitution C T exon_variant PACA-CA 3 160117462 160117462 single base substitution C T upstream_gene_variant PACA-CA 3 160118203 160118203 single base substitution C T upstream_gene_variant PACA-CA 3 160120511 160120511 single base substitution T C upstream_gene_variant PACA-CA 3 160122033 160122033 single base substitution C G upstream_gene_variant PAEN-AU 3 159978434 159978434 single base substitution G A intron_variant PAEN-AU 3 160058020 160058020 single base substitution C T intron_variant PAEN-AU 3 160073029 160073029 single base substitution G A downstream_gene_variant PAEN-AU 3 160073029 160073029 single base substitution G A intron_variant PAEN-AU 3 160114235 160114235 single base substitution T C intron_variant PAEN-IT 3 159975787 159975787 single base substitution A C 3_prime_UTR_variant PAEN-IT 3 159975787 159975787 single base substitution A C downstream_gene_variant PAEN-IT 3 159986862 159986862 single base substitution C G intron_variant PAEN-IT 3 159986862 159986862 single base substitution C G upstream_gene_variant PBCA-DE 3 159975090 159975091 deletion of <=200bp TA - 3_prime_UTR_variant PBCA-DE 3 159975090 159975091 deletion of <=200bp TA - downstream_gene_variant PBCA-DE 3 159981525 159981525 single base substitution C T intron_variant PBCA-DE 3 159984292 159984292 single base substitution C G intron_variant PBCA-DE 3 159999768 159999768 single base substitution C T intron_variant PBCA-DE 3 159999768 159999768 single base substitution C T upstream_gene_variant PBCA-DE 3 160017509 160017509 single base substitution T C downstream_gene_variant PBCA-DE 3 160017509 160017509 single base substitution T C intron_variant PBCA-DE 3 160019008 160019008 single base substitution T C downstream_gene_variant PBCA-DE 3 160019008 160019008 single base substitution T C intron_variant PBCA-DE 3 160027874 160027874 single base substitution T A intron_variant PBCA-DE 3 160027874 160027874 single base substitution T A upstream_gene_variant PBCA-DE 3 160032125 160032125 single base substitution C T intron_variant PBCA-DE 3 160032422 160032422 single base substitution C T intron_variant PBCA-DE 3 160041458 160041458 insertion of <=200bp - A intron_variant PBCA-DE 3 160041458 160041458 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 160054380 160054381 deletion of <=200bp TG - intron_variant PBCA-DE 3 160061837 160061837 single base substitution G C intron_variant PBCA-DE 3 160064134 160064134 single base substitution C T intron_variant PBCA-DE 3 160067243 160067243 insertion of <=200bp - A intron_variant PBCA-DE 3 160073687 160073687 single base substitution A G downstream_gene_variant PBCA-DE 3 160073687 160073687 single base substitution A G intron_variant PBCA-DE 3 160086505 160086505 single base substitution C T downstream_gene_variant PBCA-DE 3 160086505 160086505 single base substitution C T intron_variant PBCA-DE 3 160095476 160095476 single base substitution T A downstream_gene_variant PBCA-DE 3 160095476 160095476 single base substitution T A intron_variant PBCA-DE 3 160095476 160095476 single base substitution T A upstream_gene_variant PBCA-DE 3 160096435 160096435 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 160096435 160096435 insertion of <=200bp - A intron_variant PBCA-DE 3 160096435 160096435 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 160097738 160097738 insertion of <=200bp - A downstream_gene_variant PBCA-DE 3 160097738 160097738 insertion of <=200bp - A intron_variant PBCA-DE 3 160097738 160097738 insertion of <=200bp - A upstream_gene_variant PBCA-DE 3 160097772 160097772 single base substitution G A downstream_gene_variant PBCA-DE 3 160097772 160097772 single base substitution G A intron_variant PBCA-DE 3 160097772 160097772 single base substitution G A upstream_gene_variant PBCA-DE 3 160099838 160099838 single base substitution C T downstream_gene_variant PBCA-DE 3 160099838 160099838 single base substitution C T intron_variant PBCA-DE 3 160099838 160099838 single base substitution C T upstream_gene_variant PBCA-DE 3 160102250 160102250 deletion of <=200bp A - 5_prime_UTR_variant PBCA-DE 3 160102250 160102250 deletion of <=200bp A - downstream_gene_variant PBCA-DE 3 160102250 160102250 deletion of <=200bp A - exon_variant PBCA-DE 3 160102250 160102250 deletion of <=200bp A - intron_variant PBCA-DE 3 160102250 160102250 deletion of <=200bp A - upstream_gene_variant PBCA-DE 3 160102881 160102881 single base substitution G A intron_variant PBCA-DE 3 160102881 160102881 single base substitution G A upstream_gene_variant PBCA-DE 3 160109418 160109418 single base substitution C T 5_prime_UTR_variant PBCA-DE 3 160109418 160109418 single base substitution C T exon_variant PBCA-DE 3 160109418 160109418 single base substitution C T intron_variant PBCA-DE 3 160114135 160114136 deletion of <=200bp AT - intron_variant PRAD-CA 3 159973081 159973081 single base substitution G A downstream_gene_variant PRAD-CA 3 159973745 159973745 single base substitution A G downstream_gene_variant PRAD-CA 3 160003635 160003635 single base substitution G T exon_variant PRAD-CA 3 160003635 160003635 single base substitution G T stop_gained S309* 926C>A PRAD-CA 3 160003635 160003635 single base substitution G T stop_gained S446* 1337C>A PRAD-CA 3 160008213 160008213 single base substitution G A intron_variant PRAD-CA 3 160067263 160067263 single base substitution C A intron_variant PRAD-CA 3 160092103 160092103 single base substitution G A downstream_gene_variant PRAD-CA 3 160092103 160092103 single base substitution G A intron_variant PRAD-CA 3 160112680 160112680 single base substitution T C intron_variant PRAD-CA 3 160120416 160120416 single base substitution A G upstream_gene_variant PRAD-CA 3 160121931 160121931 single base substitution C A upstream_gene_variant PRAD-UK 3 159970445 159970445 single base substitution G A downstream_gene_variant PRAD-UK 3 159973068 159973068 single base substitution C T downstream_gene_variant PRAD-UK 3 159987722 159987722 single base substitution G A intron_variant PRAD-UK 3 159987722 159987722 single base substitution G A upstream_gene_variant PRAD-UK 3 159996419 159996419 single base substitution C T intron_variant PRAD-UK 3 159996419 159996419 single base substitution C T upstream_gene_variant PRAD-UK 3 160020031 160020031 single base substitution T C downstream_gene_variant PRAD-UK 3 160020031 160020031 single base substitution T C intron_variant PRAD-UK 3 160021703 160021703 single base substitution C A downstream_gene_variant PRAD-UK 3 160021703 160021703 single base substitution C A missense_variant R247I 740G>T PRAD-UK 3 160021703 160021703 single base substitution C A missense_variant R384I 1151G>T PRAD-UK 3 160021703 160021703 single base substitution C A missense_variant R65I 194G>T PRAD-UK 3 160021703 160021703 single base substitution C A splice_region_variant PRAD-UK 3 160021704 160021704 single base substitution T C 3_prime_UTR_variant PRAD-UK 3 160021704 160021704 single base substitution T C downstream_gene_variant PRAD-UK 3 160021704 160021704 single base substitution T C missense_variant R247G 739A>G PRAD-UK 3 160021704 160021704 single base substitution T C missense_variant R384G 1150A>G PRAD-UK 3 160021704 160021704 single base substitution T C missense_variant R65G 193A>G PRAD-UK 3 160021704 160021704 single base substitution T C splice_region_variant PRAD-UK 3 160022041 160022041 single base substitution G C intron_variant PRAD-UK 3 160058126 160058126 single base substitution A G intron_variant PRAD-UK 3 160074966 160074966 single base substitution C T downstream_gene_variant PRAD-UK 3 160074966 160074966 single base substitution C T intron_variant PRAD-UK 3 160076708 160076708 single base substitution G C intron_variant PRAD-UK 3 160076708 160076708 single base substitution G C upstream_gene_variant PRAD-UK 3 160077381 160077381 single base substitution T G intron_variant PRAD-UK 3 160077381 160077381 single base substitution T G upstream_gene_variant PRAD-UK 3 160094091 160094091 single base substitution A T downstream_gene_variant PRAD-UK 3 160094091 160094091 single base substitution A T intron_variant PRAD-UK 3 160105663 160105665 deletion of <=200bp TAG - intron_variant PRAD-UK 3 160105663 160105665 deletion of <=200bp TAG - upstream_gene_variant PRAD-UK 3 160116787 160116787 single base substitution A C intron_variant PRAD-UK 3 160119097 160119097 single base substitution T C upstream_gene_variant PRAD-UK 3 160121698 160121698 single base substitution A G upstream_gene_variant PRAD-US 3 160037613 160037613 single base substitution C T 3_prime_UTR_variant PRAD-US 3 160037613 160037613 single base substitution C T downstream_gene_variant PRAD-US 3 160037613 160037613 single base substitution C T exon_variant PRAD-US 3 160037613 160037613 single base substitution C T missense_variant V161M 481G>A PRAD-US 3 160037613 160037613 single base substitution C T missense_variant V298M 892G>A RECA-EU 3 159970383 159970383 single base substitution A T downstream_gene_variant RECA-EU 3 159978277 159978277 single base substitution C A intron_variant RECA-EU 3 159989085 159989085 single base substitution T G intron_variant RECA-EU 3 159989085 159989085 single base substitution T G upstream_gene_variant RECA-EU 3 159995342 159995342 single base substitution A G intron_variant RECA-EU 3 159995342 159995342 single base substitution A G upstream_gene_variant RECA-EU 3 160000960 160000960 single base substitution T A intron_variant RECA-EU 3 160009859 160009859 single base substitution C A intron_variant RECA-EU 3 160026303 160026303 single base substitution C T intron_variant RECA-EU 3 160026303 160026303 single base substitution C T upstream_gene_variant RECA-EU 3 160029785 160029785 single base substitution G A intron_variant RECA-EU 3 160029785 160029785 single base substitution G A upstream_gene_variant RECA-EU 3 160046407 160046407 single base substitution C A intron_variant RECA-EU 3 160050612 160050612 single base substitution G A intron_variant RECA-EU 3 160050613 160050613 single base substitution A G intron_variant RECA-EU 3 160052278 160052278 single base substitution C T intron_variant RECA-EU 3 160062409 160062409 single base substitution C T intron_variant RECA-EU 3 160073332 160073332 single base substitution T A downstream_gene_variant RECA-EU 3 160073332 160073332 single base substitution T A intron_variant RECA-EU 3 160079928 160079928 single base substitution T A downstream_gene_variant RECA-EU 3 160079928 160079928 single base substitution T A intron_variant RECA-EU 3 160079928 160079928 single base substitution T A upstream_gene_variant RECA-EU 3 160103347 160103347 single base substitution A G intron_variant RECA-EU 3 160103347 160103347 single base substitution A G upstream_gene_variant RECA-EU 3 160108413 160108413 single base substitution C A intron_variant RECA-EU 3 160110226 160110226 single base substitution T A intron_variant RECA-EU 3 160121273 160121273 single base substitution C A upstream_gene_variant SKCA-BR 3 159972726 159972727 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 3 159973102 159973102 single base substitution A G downstream_gene_variant SKCA-BR 3 159976432 159976432 insertion of <=200bp - GA intron_variant SKCA-BR 3 159977610 159977610 single base substitution G A intron_variant SKCA-BR 3 160000884 160000884 single base substitution G A intron_variant SKCA-BR 3 160002027 160002027 single base substitution G A intron_variant SKCA-BR 3 160003173 160003173 single base substitution T C intron_variant SKCA-BR 3 160004386 160004386 single base substitution G A intron_variant SKCA-BR 3 160008861 160008861 single base substitution G A intron_variant SKCA-BR 3 160010456 160010456 single base substitution C G intron_variant SKCA-BR 3 160013415 160013415 single base substitution C T downstream_gene_variant SKCA-BR 3 160013415 160013415 single base substitution C T intron_variant SKCA-BR 3 160014167 160014167 single base substitution C T downstream_gene_variant SKCA-BR 3 160014167 160014167 single base substitution C T intron_variant SKCA-BR 3 160015024 160015024 single base substitution C T downstream_gene_variant SKCA-BR 3 160015024 160015024 single base substitution C T intron_variant SKCA-BR 3 160017278 160017278 single base substitution A C downstream_gene_variant SKCA-BR 3 160017278 160017278 single base substitution A C intron_variant SKCA-BR 3 160019538 160019538 single base substitution C T downstream_gene_variant SKCA-BR 3 160019538 160019538 single base substitution C T intron_variant SKCA-BR 3 160019543 160019543 single base substitution G T downstream_gene_variant SKCA-BR 3 160019543 160019543 single base substitution G T intron_variant SKCA-BR 3 160022597 160022597 single base substitution T C intron_variant SKCA-BR 3 160038542 160038542 single base substitution G A intron_variant SKCA-BR 3 160038542 160038542 single base substitution G A upstream_gene_variant SKCA-BR 3 160039914 160039914 single base substitution C T intron_variant SKCA-BR 3 160039914 160039914 single base substitution C T upstream_gene_variant SKCA-BR 3 160041427 160041427 single base substitution G A intron_variant SKCA-BR 3 160041427 160041427 single base substitution G A upstream_gene_variant SKCA-BR 3 160042933 160042933 single base substitution G A intron_variant SKCA-BR 3 160042933 160042933 single base substitution G A upstream_gene_variant SKCA-BR 3 160043456 160043456 single base substitution A G intron_variant SKCA-BR 3 160046775 160046775 single base substitution C T intron_variant SKCA-BR 3 160047574 160047574 single base substitution C T intron_variant SKCA-BR 3 160049312 160049312 single base substitution A G intron_variant SKCA-BR 3 160049610 160049610 single base substitution G A intron_variant SKCA-BR 3 160052216 160052216 insertion of <=200bp - CT intron_variant SKCA-BR 3 160054636 160054636 single base substitution G A intron_variant SKCA-BR 3 160055712 160055712 single base substitution G A intron_variant SKCA-BR 3 160060845 160060845 single base substitution G A intron_variant SKCA-BR 3 160060846 160060846 single base substitution G A intron_variant SKCA-BR 3 160069805 160069806 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 3 160069805 160069806 deletion of <=200bp AT - intron_variant SKCA-BR 3 160070271 160070271 single base substitution G A downstream_gene_variant SKCA-BR 3 160070271 160070271 single base substitution G A intron_variant SKCA-BR 3 160078674 160078674 single base substitution A C intron_variant SKCA-BR 3 160078674 160078674 single base substitution A C upstream_gene_variant SKCA-BR 3 160081330 160081330 single base substitution G A downstream_gene_variant SKCA-BR 3 160081330 160081330 single base substitution G A intron_variant SKCA-BR 3 160082154 160082154 single base substitution A G downstream_gene_variant SKCA-BR 3 160082154 160082154 single base substitution A G intron_variant SKCA-BR 3 160082284 160082284 single base substitution T C downstream_gene_variant SKCA-BR 3 160082284 160082284 single base substitution T C intron_variant SKCA-BR 3 160082969 160082969 single base substitution C T downstream_gene_variant SKCA-BR 3 160082969 160082969 single base substitution C T intron_variant SKCA-BR 3 160086147 160086148 deletion of <=200bp CA - intron_variant SKCA-BR 3 160089743 160089743 single base substitution T A downstream_gene_variant SKCA-BR 3 160089743 160089743 single base substitution T A intron_variant SKCA-BR 3 160093803 160093803 single base substitution T A downstream_gene_variant SKCA-BR 3 160093803 160093803 single base substitution T A intron_variant SKCA-BR 3 160095486 160095486 single base substitution A T downstream_gene_variant SKCA-BR 3 160095486 160095486 single base substitution A T intron_variant SKCA-BR 3 160095486 160095486 single base substitution A T upstream_gene_variant SKCA-BR 3 160097920 160097920 single base substitution A C downstream_gene_variant SKCA-BR 3 160097920 160097920 single base substitution A C intron_variant SKCA-BR 3 160097920 160097920 single base substitution A C upstream_gene_variant SKCA-BR 3 160101329 160101329 single base substitution A G 5_prime_UTR_variant SKCA-BR 3 160101329 160101329 single base substitution A G downstream_gene_variant SKCA-BR 3 160101329 160101329 single base substitution A G exon_variant SKCA-BR 3 160101329 160101329 single base substitution A G intron_variant SKCA-BR 3 160102033 160102033 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 3 160102033 160102033 insertion of <=200bp - CA exon_variant SKCA-BR 3 160102033 160102033 insertion of <=200bp - CA intron_variant SKCA-BR 3 160102033 160102033 insertion of <=200bp - CA upstream_gene_variant SKCA-BR 3 160102672 160102672 single base substitution A T intron_variant SKCA-BR 3 160102672 160102672 single base substitution A T upstream_gene_variant SKCA-BR 3 160103899 160103899 single base substitution T G intron_variant SKCA-BR 3 160103899 160103899 single base substitution T G upstream_gene_variant SKCA-BR 3 160107357 160107357 single base substitution G A intron_variant SKCA-BR 3 160108205 160108205 insertion of <=200bp - CA intron_variant SKCA-BR 3 160111321 160111321 single base substitution G A intron_variant SKCA-BR 3 160113268 160113268 single base substitution T C intron_variant SKCA-BR 3 160113469 160113469 single base substitution A T intron_variant SKCA-BR 3 160115504 160115504 insertion of <=200bp - CT intron_variant SKCA-BR 3 160120023 160120023 insertion of <=200bp - TCA upstream_gene_variant SKCM-US 3 159986273 159986273 single base substitution A C exon_variant SKCM-US 3 159986273 159986273 single base substitution A C synonymous_variant A580A 1740T>G SKCM-US 3 159986273 159986273 single base substitution A C synonymous_variant A717A 2151T>G SKCM-US 3 159995214 159995214 single base substitution G A exon_variant SKCM-US 3 159995214 159995214 single base substitution G A missense_variant S523L 1568C>T SKCM-US 3 159995214 159995214 single base substitution G A missense_variant S660L 1979C>T SKCM-US 3 159997081 159997081 single base substitution G A exon_variant SKCM-US 3 159997081 159997081 single base substitution G A missense_variant S442F 1325C>T SKCM-US 3 159997081 159997081 single base substitution G A missense_variant S579F 1736C>T SKCM-US 3 159997081 159997081 single base substitution G A upstream_gene_variant SKCM-US 3 159998559 159998559 single base substitution G A exon_variant SKCM-US 3 159998559 159998559 single base substitution G A synonymous_variant I383I 1149C>T SKCM-US 3 159998559 159998559 single base substitution G A synonymous_variant I520I 1560C>T SKCM-US 3 159998559 159998559 single base substitution G A upstream_gene_variant SKCM-US 3 160000378 160000378 single base substitution C T exon_variant SKCM-US 3 160000378 160000378 single base substitution C T synonymous_variant L331L 993G>A SKCM-US 3 160000378 160000378 single base substitution C T synonymous_variant L468L 1404G>A SKCM-US 3 160025566 160025566 single base substitution G A 3_prime_UTR_variant SKCM-US 3 160025566 160025566 single base substitution G A exon_variant SKCM-US 3 160025566 160025566 single base substitution G A missense_variant R184C 550C>T SKCM-US 3 160025566 160025566 single base substitution G A missense_variant R2C 4C>T SKCM-US 3 160025566 160025566 single base substitution G A missense_variant R321C 961C>T SKCM-US 3 160037581 160037581 single base substitution A T 3_prime_UTR_variant SKCM-US 3 160037581 160037581 single base substitution A T downstream_gene_variant SKCM-US 3 160037581 160037581 single base substitution A T exon_variant SKCM-US 3 160037581 160037581 single base substitution A T missense_variant F171L 513T>A SKCM-US 3 160037581 160037581 single base substitution A T missense_variant F308L 924T>A SKCM-US 3 160073835 160073835 single base substitution G A 3_prime_UTR_variant SKCM-US 3 160073835 160073835 single base substitution G A downstream_gene_variant SKCM-US 3 160073835 160073835 single base substitution G A exon_variant SKCM-US 3 160073835 160073835 single base substitution G A missense_variant S111L 332C>T SKCM-US 3 160073835 160073835 single base substitution G A missense_variant S248L 743C>T SKCM-US 3 160083916 160083916 single base substitution C A exon_variant SKCM-US 3 160083916 160083916 single base substitution C A intron_variant SKCM-US 3 160083916 160083916 single base substitution C A missense_variant W155L 464G>T SKCM-US 3 160083916 160083916 single base substitution C A missense_variant W18L 53G>T SKCM-US 3 160099326 160099326 single base substitution G A 5_prime_UTR_variant SKCM-US 3 160099326 160099326 single base substitution G A downstream_gene_variant SKCM-US 3 160099326 160099326 single base substitution G A exon_variant SKCM-US 3 160099326 160099326 single base substitution G A intron_variant SKCM-US 3 160099326 160099326 single base substitution G A missense_variant T75I 224C>T SKCM-US 3 160099326 160099326 single base substitution G A upstream_gene_variant SKCM-US 3 160118641 160118641 single base substitution C T upstream_gene_variant SKCM-US 3 160119868 160119868 single base substitution G A upstream_gene_variant SKCM-US 3 160120471 160120471 single base substitution C T upstream_gene_variant SKCM-US 3 160122245 160122245 single base substitution C T upstream_gene_variant SKCM-US 3 160122251 160122251 single base substitution C T upstream_gene_variant STAD-US 3 159995162 159995162 single base substitution T C exon_variant STAD-US 3 159995162 159995162 single base substitution T C missense_variant I540M 1620A>G STAD-US 3 159995162 159995162 single base substitution T C missense_variant I677M 2031A>G STAD-US 3 160018781 160018781 single base substitution C T downstream_gene_variant STAD-US 3 160018781 160018781 single base substitution C T exon_variant STAD-US 3 160018781 160018781 single base substitution C T missense_variant R265H 794G>A STAD-US 3 160018781 160018781 single base substitution C T missense_variant R402H 1205G>A STAD-US 3 160018781 160018781 single base substitution C T missense_variant R83H 248G>A STAD-US 3 160021774 160021774 single base substitution C T 3_prime_UTR_variant STAD-US 3 160021774 160021774 single base substitution C T exon_variant STAD-US 3 160021774 160021774 single base substitution C T synonymous_variant T223T 669G>A STAD-US 3 160021774 160021774 single base substitution C T synonymous_variant T360T 1080G>A STAD-US 3 160021774 160021774 single base substitution C T synonymous_variant T41T 123G>A STAD-US 3 160083873 160083873 single base substitution C T intron_variant STAD-US 3 160083873 160083873 single base substitution C T splice_region_variant STAD-US 3 160083873 160083873 single base substitution C T synonymous_variant Q169Q 507G>A STAD-US 3 160083873 160083873 single base substitution C T synonymous_variant Q32Q 96G>A STAD-US 3 160099392 160099392 single base substitution A G 5_prime_UTR_variant STAD-US 3 160099392 160099392 single base substitution A G downstream_gene_variant STAD-US 3 160099392 160099392 single base substitution A G exon_variant STAD-US 3 160099392 160099392 single base substitution A G intron_variant STAD-US 3 160099392 160099392 single base substitution A G missense_variant L53P 158T>C STAD-US 3 160099392 160099392 single base substitution A G splice_region_variant STAD-US 3 160099392 160099392 single base substitution A G upstream_gene_variant STAD-US 3 160119879 160119879 single base substitution A G upstream_gene_variant STAD-US 3 160120549 160120549 insertion of <=200bp - A upstream_gene_variant STAD-US 3 160122248 160122248 single base substitution A G upstream_gene_variant STAD-US 3 160122287 160122287 single base substitution T G upstream_gene_variant THCA-SA 3 160083918 160083918 single base substitution C T exon_variant THCA-SA 3 160083918 160083918 single base substitution C T intron_variant THCA-SA 3 160083918 160083918 single base substitution C T synonymous_variant A154A 462G>A THCA-SA 3 160083918 160083918 single base substitution C T synonymous_variant A17A 51G>A UCEC-US 3 159986314 159986314 single base substitution A C exon_variant UCEC-US 3 159986314 159986314 single base substitution A C missense_variant L567V 1699T>G UCEC-US 3 159986314 159986314 single base substitution A C missense_variant L704V 2110T>G UCEC-US 3 160000331 160000331 single base substitution T G exon_variant UCEC-US 3 160000331 160000331 single base substitution T G missense_variant K347T 1040A>C UCEC-US 3 160000331 160000331 single base substitution T G missense_variant K484T 1451A>C UCEC-US 3 160000380 160000380 single base substitution G T exon_variant UCEC-US 3 160000380 160000380 single base substitution G T missense_variant L331M 991C>A UCEC-US 3 160000380 160000380 single base substitution G T missense_variant L468M 1402C>A UCEC-US 3 160000393 160000393 single base substitution G T exon_variant UCEC-US 3 160000393 160000393 single base substitution G T synonymous_variant I326I 978C>A UCEC-US 3 160000393 160000393 single base substitution G T synonymous_variant I463I 1389C>A UCEC-US 3 160018827 160018827 single base substitution G A downstream_gene_variant UCEC-US 3 160018827 160018827 single base substitution G A exon_variant UCEC-US 3 160018827 160018827 single base substitution G A missense_variant L250F 748C>T UCEC-US 3 160018827 160018827 single base substitution G A missense_variant L387F 1159C>T UCEC-US 3 160018827 160018827 single base substitution G A missense_variant L68F 202C>T UCEC-US 3 160025521 160025521 single base substitution T C 3_prime_UTR_variant UCEC-US 3 160025521 160025521 single base substitution T C exon_variant UCEC-US 3 160025521 160025521 single base substitution T C missense_variant R17G 49A>G UCEC-US 3 160025521 160025521 single base substitution T C missense_variant R199G 595A>G UCEC-US 3 160025521 160025521 single base substitution T C missense_variant R336G 1006A>G UCEC-US 3 160025564 160025576 deletion of <=200bp ACGAACCTAAACA - inframe_deletion VR1 UCEC-US 3 160025564 160025576 deletion of <=200bp ACGAACCTAAACA - splice_acceptor_variant UCEC-US 3 160037566 160037566 single base substitution C T 3_prime_UTR_variant UCEC-US 3 160037566 160037566 single base substitution C T downstream_gene_variant UCEC-US 3 160037566 160037566 single base substitution C T exon_variant UCEC-US 3 160037566 160037566 single base substitution C T synonymous_variant T176T 528G>A UCEC-US 3 160037566 160037566 single base substitution C T synonymous_variant T313T 939G>A UCEC-US 3 160073849 160073849 single base substitution T C 3_prime_UTR_variant UCEC-US 3 160073849 160073849 single base substitution T C downstream_gene_variant UCEC-US 3 160073849 160073849 single base substitution T C exon_variant UCEC-US 3 160073849 160073849 single base substitution T C synonymous_variant L106L 318A>G UCEC-US 3 160073849 160073849 single base substitution T C synonymous_variant L243L 729A>G UCEC-US 3 160073854 160073854 single base substitution C A 3_prime_UTR_variant UCEC-US 3 160073854 160073854 single base substitution C A downstream_gene_variant UCEC-US 3 160073854 160073854 single base substitution C A exon_variant UCEC-US 3 160073854 160073854 single base substitution C A stop_gained E105* 313G>T UCEC-US 3 160073854 160073854 single base substitution C A stop_gained E242* 724G>T UCEC-US 3 160083920 160083920 single base substitution C T exon_variant UCEC-US 3 160083920 160083920 single base substitution C T intron_variant UCEC-US 3 160083920 160083920 single base substitution C T missense_variant A154T 460G>A UCEC-US 3 160083920 160083920 single base substitution C T missense_variant A17T 49G>A UCEC-US 3 160099334 160099334 single base substitution C A 5_prime_UTR_variant UCEC-US 3 160099334 160099334 single base substitution C A downstream_gene_variant UCEC-US 3 160099334 160099334 single base substitution C A exon_variant UCEC-US 3 160099334 160099334 single base substitution C A intron_variant UCEC-US 3 160099334 160099334 single base substitution C A missense_variant K72N 216G>T UCEC-US 3 160099334 160099334 single base substitution C A upstream_gene_variant UCEC-US 3 160099507 160099507 single base substitution C A 5_prime_UTR_variant UCEC-US 3 160099507 160099507 single base substitution C A downstream_gene_variant UCEC-US 3 160099507 160099507 single base substitution C A exon_variant UCEC-US 3 160099507 160099507 single base substitution C A intron_variant UCEC-US 3 160099507 160099507 single base substitution C A splice_acceptor_variant UCEC-US 3 160099507 160099507 single base substitution C A stop_gained E15* 43G>T UCEC-US 3 160099507 160099507 single base substitution C A upstream_gene_variant UCEC-US 3 160120474 160120474 single base substitution G C upstream_gene_variant UCEC-US 3 160120494 160120494 single base substitution A T upstream_gene_variant UCEC-US 3 160120572 160120572 single base substitution T A upstream_gene_variant UCEC-US 3 160122152 160122152 single base substitution T G upstream_gene_variant UCEC-US 3 160122562 160122562 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand HCT15 COSM3005997 c.1861G>T p.A621S Substitution - Missense 3:160277646-160277646 - TCGA-D1-A17Q-01 COSM1040569 c.216G>T p.K72N Substitution - Missense 3:160381546-160381546 - B109-Tumor COSM1752990 c.246C>T p.L82L Substitution - coding silent 3:160381516-160381516 - TCGA-A6-2670-01 COSM265533 c.1883G>C p.R628P Substitution - Missense 3:160277624-160277624 - TCGA-B4-5377-01 COSM479644 c.1064G>T p.C355F Substitution - Missense 3:160307675-160307675 - 2492714 COSM1040561 c.1159C>T p.L387F Substitution - Missense 3:160301039-160301039 - TCGA-CD-8527-01 COSM4114901 c.2031A>G p.I677M Substitution - Missense 3:160277374-160277374 - LIM2405 COSM4642747 c.1001G>A p.R334H Substitution - Missense 3:160307738-160307738 - EGC3 COSM5059463 c.462G>A p.A154A Substitution - coding silent 3:160366130-160366130 - PT08_2 COSM5894317 c.925C>T p.Q309* Substitution - Nonsense 3:160319792-160319792 - 587376 COSM1210321 c.391A>C p.K131Q Substitution - Missense 3:160375860-160375860 - TCGA-AA-3966-01 COSM272797 c.659G>A p.R220H Substitution - Missense 3:160356131-160356131 - TCGA-14-1037 COSM2155317 c.2100G>A p.R700R Substitution - coding silent 3:160268536-160268536 - TCGA-EJ-5527-01 COSM1130301 c.892G>A p.V298M Substitution - Missense 3:160319825-160319825 - TCGA-CJ-5675-01 COSM479643 c.1129A>T p.S377C Substitution - Missense 3:160303937-160303937 - HT115 COSM3006006 c.1484G>A p.R495Q Substitution - Missense 3:160282510-160282510 - TCGA-DK-A1A3-01 COSM419736 c.1882C>T p.R628* Substitution - Nonsense 3:160277625-160277625 - RK308_C01 COSM3767130 c.67A>T p.T23S Substitution - Missense 3:160381695-160381695 - TCGA-66-2787-01 COSM729431 c.1807G>C p.D603H Substitution - Missense 3:160279222-160279222 - TCGA-D1-A103-01 COSM1040560 c.1389C>A p.I463I Substitution - coding silent 3:160282605-160282605 - I2L-P19Tb-Tumor-Organoid COSM5355327 c.1811C>A p.A604D Substitution - Missense 3:160279218-160279218 - TCGA-BS-A0UV-01 COSM1040561 c.1159C>T p.L387F Substitution - Missense 3:160301039-160301039 - YUAKER COSM1693696 c.748C>T p.H250Y Substitution - Missense 3:160356042-160356042 - TCGA-AX-A0J0-01 COSM1040556 c.2110T>G p.L704V Substitution - Missense 3:160268526-160268526 - TCGA-21-5786-01 COSM729428 c.22T>C p.L8L Substitution - coding silent 3:160384579-160384579 - RK084_C01 COSM1632947 c.93T>C p.C31C Substitution - coding silent 3:160381669-160381669 - 2492711 COSM1040561 c.1159C>T p.L387F Substitution - Missense 3:160301039-160301039 - pfg010T COSM1642155 c.312T>G p.A104A Substitution - coding silent 3:160377488-160377488 - TCGA-06-0214-01 COSM3408390 c.620G>A p.G207D Substitution - Missense 3:160357508-160357508 - PCSI_0613_Pa_P_526 COSM5760694 c.1527G>A p.V509V Substitution - coding silent 3:160280804-160280804 - TCGA-EW-A3E8-01 COSM3846635 c.1729G>A p.D577N Substitution - Missense 3:160279300-160279300 - TCGA-FP-A4BE-01 COSM4114903 c.1080G>A p.T360T Substitution - coding silent 3:160303986-160303986 - TCGA-AP-A0LM-01 COSM1040566 c.724G>T p.E242* Substitution - Nonsense 3:160356066-160356066 - I2L-P10-Tumor-Organoid COSM5355139 c.795A>C p.E265D Substitution - Missense 3:160319922-160319922 - TCGA-66-2768-01 COSM729430 c.1343G>T p.G448V Substitution - Missense 3:160285841-160285841 - 2293782 COSM4608995 c.1726G>T p.A576S Substitution - Missense 3:160279303-160279303 - TCGA-AM-5821-01 COSM3759849 c.1756A>T p.T586S Substitution - Missense 3:160279273-160279273 - CHC2351T COSM4801206 c.1755A>G p.I585M Substitution - Missense 3:160279274-160279274 - 2521259 COSM5889940 c.549+7C>T p.? Unknown 3:160366036-160366036 - HCC160T COSM5807097 c.1333G>T p.A445S Substitution - Missense 3:160285851-160285851 - BN38 COSM3660312 c.53G>A p.S18N Substitution - Missense 3:160381709-160381709 - PD4203a COSM161673 c.313C>G p.H105D Substitution - Missense 3:160377487-160377487 - CSCC-27-T COSM4461975 c.1228C>T p.P410S Substitution - Missense 3:160300970-160300970 - CN-AML-NR-15-Dx COSM5427322 c.1885G>A p.D629N Substitution - Missense 3:160277622-160277622 - ESCC_BICR_050T COSM5440078 c.537T>A p.A179A Substitution - coding silent 3:160366055-160366055 - RK277_C01 COSM4780756 c.1693A>G p.S565G Substitution - Missense 3:160279336-160279336 - TCGA-B6-A0X4-01 COSM445877 c.306A>T p.V102V Substitution - coding silent 3:160377494-160377494 - RK308_C01 COSM3767128 c.957+9A>G p.? Unknown 3:160319751-160319751 - Pat_45_B COSM5863832 c.549+1G>A p.? Unknown 3:160366042-160366042 - P158 COSM1737706 c.1081A>G p.K361E Substitution - Missense 3:160303985-160303985 - PD4956a COSM4114903 c.1080G>A p.T360T Substitution - coding silent 3:160303986-160303986 - HCC24T COSM1617140 c.1500A>G p.E500E Substitution - coding silent 3:160282494-160282494 - HCC115T COSM5807097 c.1333G>T p.A445S Substitution - Missense 3:160285851-160285851 - I2L-P7-Tumor-Organoid COSM5355053 c.1316-5delT p.? Unknown 3:160285873-160285873 - TCGA-61-1740-01 COSM1327753 c.1740G>A p.L580L Substitution - coding silent 3:160279289-160279289 - PT35 COSM5911905 c.260-7C>T p.? Unknown 3:160377547-160377547 - CSCC-31-T COSM4476428 c.2068C>T p.Q690* Substitution - Nonsense 3:160277337-160277337 - S00356 COSM317479 c.2005A>T p.S669C Substitution - Missense 3:160277400-160277400 - TCGA-D1-A17R-01 COSM1040565 c.729A>G p.L243L Substitution - coding silent 3:160356061-160356061 - TCGA-BR-7851-01 COSM4114904 c.507G>A p.Q169Q Substitution - coding silent 3:160366085-160366085 - CSCC-49-T COSM4545369 c.376G>A p.E126K Substitution - Missense 3:160375875-160375875 - PTC-14C COSM4157401 c.174C>G p.Y58* Substitution - Nonsense 3:160381588-160381588 - BN38T COSM3660312 c.53G>A p.S18N Substitution - Missense 3:160381709-160381709 - TCGA-AA-3543-01 COSM265647 c.1800_1801insA p.W601fs*12 Insertion - Frameshift 3:160279228-160279229 - TCGA-EE-A183-06 COSM3589432 c.464G>T p.W155L Substitution - Missense 3:160366128-160366128 - TCGA-DD-A11C-01 COSM4925790 c.2323T>C p.L775L Substitution - coding silent 3:160258536-160258536 - CSCC-56-T COSM4461975 c.1228C>T p.P410S Substitution - Missense 3:160300970-160300970 - DLD1 COSM3005997 c.1861G>T p.A621S Substitution - Missense 3:160277646-160277646 - TCGA-AD-6964-01 COSM1420314 c.749A>G p.H250R Substitution - Missense 3:160356041-160356041 - B109 COSM1752990 c.246C>T p.L82L Substitution - coding silent 3:160381516-160381516 - AOCS-116-1-3 COSM4137028 c.192G>C p.W64C Substitution - Missense 3:160381570-160381570 - 2492713 COSM1040561 c.1159C>T p.L387F Substitution - Missense 3:160301039-160301039 - CSCC-31-T COSM4114903 c.1080G>A p.T360T Substitution - coding silent 3:160303986-160303986 - S00836 COSM311927 c.2294C>T p.S765L Substitution - Missense 3:160258565-160258565 - T3094 COSM4691883 c.496G>A p.A166T Substitution - Missense 3:160366096-160366096 - TCGA-AG-3892-01 COSM257147 c.747T>G p.F249L Substitution - Missense 3:160356043-160356043 - CSCC-11-T COSM4532972 c.1936G>A p.V646I Substitution - Missense 3:160277469-160277469 - YUGAFFE COSM1693697 c.743C>T p.S248L Substitution - Missense 3:160356047-160356047 - AB COSM5414903 c.1315+10T>A p.? Unknown 3:160300873-160300873 - TCGA-B0-5399-01 COSM479642 c.1549A>G p.T517A Substitution - Missense 3:160280782-160280782 - CSCC-31-T COSM4527636 c.1479G>A p.V493V Substitution - coding silent 3:160282515-160282515 - TCGA-A5-A0VP-01 COSM1040562 c.1006A>G p.R336G Substitution - Missense 3:160307733-160307733 - PDA_105 COSM5003752 c.1022C>A p.S341Y Substitution - Missense 3:160307717-160307717 - WSU-HN6 COSM4602152 c.2158C>A p.Q720K Substitution - Missense 3:160268478-160268478 - TCGA-UC-A7PF-01 COSM4830280 c.2095G>T p.E699* Substitution - Nonsense 3:160277310-160277310 - Pat_04_A COSM5863831 c.607A>T p.I203F Substitution - Missense 3:160357521-160357521 - I2L-P19Ta-Tumor-Organoid COSM5355286 c.879C>T p.V293V Substitution - coding silent 3:160319838-160319838 - TCGA-AO-A124-01 COSM445875 c.1707T>G p.N569K Substitution - Missense 3:160279322-160279322 - TCGA-FW-A3R5-06 COSM3915238 c.961C>T p.R321C Substitution - Missense 3:160307778-160307778 - TCGA-B5-A0K9-01 COSM1040568 c.345T>G p.N115K Substitution - Missense 3:160377455-160377455 - I2L-P19Tb-Tumor-Biopsy COSM5355327 c.1811C>A p.A604D Substitution - Missense 3:160279218-160279218 - S02342 COSM5692841 c.2297G>T p.S766I Substitution - Missense 3:160258562-160258562 - DN14011 COSM5962299 c.1315+9A>T p.? Unknown 3:160300874-160300874 - BD135T COSM5516289 c.1665-7delT p.? Unknown 3:160279371-160279371 - SA083 COSM213461 c.1068C>G p.Y356* Substitution - Nonsense 3:160307671-160307671 - TCGA-C8-A12Q-01 COSM445874 c.2292A>T p.S764S Substitution - coding silent 3:160258567-160258567 - sysucc-311T COSM3915238 c.961C>T p.R321C Substitution - Missense 3:160307778-160307778 - TCGA-EE-A3AE-06 COSM3589431 c.924T>A p.F308L Substitution - Missense 3:160319793-160319793 - 3N04-VS-3T04 COSM4978699 c.1333G>A p.A445T Substitution - Missense 3:160285851-160285851 - I2L-P19Ta-Tumor-Biopsy COSM5355286 c.879C>T p.V293V Substitution - coding silent 3:160319838-160319838 - LC_S25 COSM1186452 c.2057A>G p.Y686C Substitution - Missense 3:160277348-160277348 - HCC141T COSM1617139 c.1940A>G p.Q647R Substitution - Missense 3:160277465-160277465 - CSCC-31-T COSM3006012 c.999C>T p.F333F Substitution - coding silent 3:160307740-160307740 - TCGA-CZ-5458-01 COSM479641 c.2240A>G p.E747G Substitution - Missense 3:160258619-160258619 - TCGA-ER-A194-01 COSM3589429 c.1560C>T p.I520I Substitution - coding silent 3:160280771-160280771 - TCGA-BR-6452-01 COSM4114905 c.158T>C p.L53P Substitution - Missense 3:160381604-160381604 - HCC141 COSM1617139 c.1940A>G p.Q647R Substitution - Missense 3:160277465-160277465 - CSCC-7-T COSM4572043 c.628T>G p.C210G Substitution - Missense 3:160357500-160357500 - SJHGG043_D COSM4970838 c.1306G>A p.D436N Substitution - Missense 3:160300892-160300892 - TCGA-D3-A51T-06 COSM3589433 c.224C>T p.T75I Substitution - Missense 3:160381538-160381538 - T2940 COSM4691882 c.1787T>C p.V596A Substitution - Missense 3:160279242-160279242 - TCGA-EA-A3HQ-01 COSM4843147 c.2188G>A p.E730K Substitution - Missense 3:160268448-160268448 - 575 COSM3722143 c.1655G>A p.R552K Substitution - Missense 3:160280676-160280676 - TCGA-A6-5665-01 COSM1420312 c.893T>C p.V298A Substitution - Missense 3:160319824-160319824 - TCGA-B5-A0JY-01 COSM1040558 c.1451A>C p.K484T Substitution - Missense 3:160282543-160282543 - ESCC-225T COSM3940368 c.479A>T p.E160V Substitution - Missense 3:160366113-160366113 - TCGA-BG-A0W1-01 COSM1040563 c.958-7_963delTGTTTAGGTTCGT p.? Unknown 3:160307776-160307788 - TCGA-60-2722-01 COSM729429 c.932C>G p.T311R Substitution - Missense 3:160319785-160319785 - UM-SCC-17B COSM4599003 c.467G>T p.G156V Substitution - Missense 3:160366125-160366125 - HCT8 COSM3005997 c.1861G>T p.A621S Substitution - Missense 3:160277646-160277646 - S00829 COSM5660074 c.582A>G p.V194V Substitution - coding silent 3:160357546-160357546 - C086 COSM5532564 c.1049C>T p.S350L Substitution - Missense 3:160307690-160307690 - MO_1410 COSM5558124 c.1480A>C p.K494Q Substitution - Missense 3:160282514-160282514 - TCGA-AD-5900-01 COSM5829604 c.1381-3delT p.? Unknown 3:160282616-160282616 - HCC017T COSM5815320 c.791T>G p.L264* Substitution - Nonsense 3:160319926-160319926 - Patient5 COSM5731793 c.1729G>C p.D577H Substitution - Missense 3:160279300-160279300 - TCGA-FW-A3R5-06 COSM3915237 c.1736C>T p.S579F Substitution - Missense 3:160279293-160279293 - TCGA-AP-A056-01 COSM1040570 c.43G>T p.E15* Substitution - Nonsense 3:160381719-160381719 - 2492712 COSM1040561 c.1159C>T p.L387F Substitution - Missense 3:160301039-160301039 - TCGA-B5-A0K2-01 COSM1040567 c.460G>A p.A154T Substitution - Missense 3:160366132-160366132 - PTC-7C COSM4157400 c.2318T>A p.I773K Substitution - Missense 3:160258541-160258541 - TCGA-EB-A5UL-06 COSM3589428 c.1979C>T p.S660L Substitution - Missense 3:160277426-160277426 - TCGA-D3-A2J8-06 COSM3589430 c.1404G>A p.L468L Substitution - coding silent 3:160282590-160282590 - CSCC-62-T COSM4453765 c.344A>G p.N115S Substitution - Missense 3:160377456-160377456 - LN18 COSM419736 c.1882C>T p.R628* Substitution - Nonsense 3:160277625-160277625 - TCGA-43-3394-01 COSM729432 c.2005A>C p.S669R Substitution - Missense 3:160277400-160277400 - TCGA-CA-6718-01 COSM1420315 c.478G>A p.E160K Substitution - Missense 3:160366114-160366114 - CN-AML-15-T COSM5427322 c.1885G>A p.D629N Substitution - Missense 3:160277622-160277622 - CSCC-38-T COSM4476024 c.2035C>T p.L679F Substitution - Missense 3:160277370-160277370 - TCGA-AG-4001-01 COSM258940 c.1825C>T p.R609C Substitution - Missense 3:160279204-160279204 - TCGA-DA-A3F8-06 COSM1693697 c.743C>T p.S248L Substitution - Missense 3:160356047-160356047 - RK128_C01 COSM3767129 c.909G>T p.W303C Substitution - Missense 3:160319808-160319808 - TCGA-HF-7132-01 COSM4114902 c.1205G>A p.R402H Substitution - Missense 3:160300993-160300993 - A6 COSM5350925 c.425C>G p.T142S Substitution - Missense 3:160375826-160375826 - 631084 COSM320929 c.362T>A p.L121* Substitution - Nonsense 3:160377438-160377438 - SC_9008 COSM3006010 c.1204C>T p.R402C Substitution - Missense 3:160300994-160300994 - CHC2351T COSM4801206 c.1755A>G p.I585M Substitution - Missense 3:160279274-160279274 - 342-01-2TD COSM5418456 c.1159C>A p.L387I Substitution - Missense 3:160301039-160301039 - TCGA-AP-A051-01 COSM1040559 c.1402C>A p.L468M Substitution - Missense 3:160282592-160282592 - cSCCP4 COSM138398 c.552G>A p.W184* Substitution - Nonsense 3:160357576-160357576 - TCGA-A6-4105-01 COSM1420317 c.12G>C p.K4N Substitution - Missense 3:160384589-160384589 - 05-P8014 COSM4584072 c.807T>C p.T269T Substitution - coding silent 3:160319910-160319910 - TCGA-A5-A0G5-01 COSM1040557 c.1974A>G p.K658K Substitution - coding silent 3:160277431-160277431 - HCC24 COSM1617140 c.1500A>G p.E500E Substitution - coding silent 3:160282494-160282494 - S00356 COSM317479 c.2005A>T p.S669C Substitution - Missense 3:160277400-160277400 - YUBER COSM1693695 c.1682C>T p.P561L Substitution - Missense 3:160279347-160279347 - YUDON COSM5355286 c.879C>T p.V293V Substitution - coding silent 3:160319838-160319838 - 108402 COSM95409 c.1748T>G p.I583S Substitution - Missense 3:160279281-160279281 - TCGA-28-2514-01 COSM3408391 c.450G>A p.V150V Substitution - coding silent 3:160366142-160366142 - TCGA-D9-A6EC-06 COSM4403339 c.2151T>G p.A717A Substitution - coding silent 3:160268485-160268485 - C086 COSM5532565 c.1323C>T p.F441F Substitution - coding silent 3:160285861-160285861 - pfg122T COSM4763204 c.1627G>T p.D543Y Substitution - Missense 3:160280704-160280704 - TCGA-AZ-6605-01 COSM1420311 c.2049_2053delCCTTG p.V685fs*8 Deletion - Frameshift 3:160277352-160277356 - Pat_24_A COSM5863830 c.1865C>T p.A622V Substitution - Missense 3:160277642-160277642 - HX28T COSM1617140 c.1500A>G p.E500E Substitution - coding silent 3:160282494-160282494 - TCGA-B5-A0JY-01 COSM1040564 c.939G>A p.T313T Substitution - coding silent 3:160319778-160319778 - CHC892T COSM4959064 c.718G>A p.D240N Substitution - Missense 3:160356072-160356072 - TCGA-BH-A0C7-01 COSM445876 c.1462C>T p.L488F Substitution - Missense 3:160282532-160282532 - CHC892T COSM4959064 c.718G>A p.D240N Substitution - Missense 3:160356072-160356072 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.478095 3q25.33 611177

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer ACGAACCTAAACA - SpliceAcceptorDeletion . c.958-7_963delTGTTTAGGTTCGT 3 160025564 UCEC A C Missense p.N569K c.1707T>G 3 159997110 BRCA A C Synonymous p.A104A c.312T>G 3 160095276 STAD A C Synonymous p.L680L c.2040T>G 3 159995153 BRCA A G Missense p.V611A c.1832T>C 3 159996985 COREAD A G Synonymous p.C288C c.864T>C 3 160037641 HNSC A G Synonymous p.C31C c.93T>C 3 160099457 HC A G Synonymous p.L8L c.22T>C 3 160102367 LUSC A - IntronicDeletion . c.37+102delT 3 160102250 STAD A - IntronicDeletion . c.371-11delT 3 160093679 STAD A T Missense p.F308L c.924T>A 3 160037581 CM A T Nonsense p.L121* c.362T>A 3 160095226 SCLC C A Missense p.C355F c.1064G>T 3 160025463 RCCC C A Missense p.D56Y c.166G>T 3 160099384 CM C A Missense p.G448V c.1343G>T 3 160003629 LUSC C A Missense p.G87C c.259G>T 3 160099291 CM C A Missense p.V349F c.1045G>T 3 160025482 HNSC C A Missense p.W155L c.464G>T 3 160083916 CM C G Missense p.D603H c.1807G>C 3 159997010 LUSC C G Missense p.D86H c.256G>C 3 160099294 HNSC C G Missense p.R628P c.1883G>C 3 159995412 COREAD C G Synonymous p.V605V c.1815G>C 3 159997002 HNSC C T IntronicSNV . c.2100-133G>A 3 159986457 CM C T IntronicSNV . c.2100-99G>A 3 159986423 CM C T Missense p.A154T c.460G>A 3 160083920 UCEC C T Missense p.G207D c.620G>A 3 160075296 GBM C T Missense p.V298M c.892G>A 3 160037613 PRAD C T Synonymous p.L468L c.1404G>A 3 160000378 CM C T Synonymous p.V150V c.450G>A 3 160083930 GBM G A Missense p.H90Y c.268C>T 3 160095320 CM G A Missense p.L488F c.1462C>T 3 160000320 BRCA G A Missense p.P66S c.196C>T 3 160099354 HNSC G A Missense p.R609C c.1825C>T 3 159996992 COREAD G A Missense p.S248L c.743C>T 3 160073835 CM G A Missense p.S765L c.2294C>T 3 159976353 SCLC G A Missense p.T136I c.407C>T 3 160093632 CM G A Missense p.T548I c.1643C>T 3 159998476 COREAD G A Nonsense p.R628* c.1882C>T 3 159995413 BLCA G A Synonymous p.H105H c.315C>T 3 160095273 HNSC G A Synonymous p.I520I c.1560C>T 3 159998559 CM G A Synonymous p.Y356Y c.1068C>T 3 160025459 HNSC G C Missense p.H105D c.313C>G 3 160095275 BRCA G C Missense p.T311R c.932C>G 3 160037573 LUSC G C Nonsense p.Y356* c.1068C>G 3 160025459 BRCA G T Missense p.L387I c.1159C>A 3 160018827 CLL T A Missense p.S669C c.2005A>T 3 159995188 SCLC T A Synonymous p.S764S c.2292A>T 3 159976355 BRCA T A Synonymous p.T507T c.1521A>T 3 159998598 LUAD T A Synonymous p.V102V c.306A>T 3 160095282 BRCA T C 3-UTRSNV . c.2331+1197A>G 3 159975119 HC T C IntronicSNV . c.2100-7A>G 3 159986331 CM T C IntronicSNV . c.778-106A>G 3 160037833 HC T C Missense p.I482V c.1444A>G 3 160000338 STAD T C Missense p.R336G c.1006A>G 3 160025521 UCEC T C Missense p.Y116C c.347A>G 3 160095241 HNSC T C Synonymous p.L243L c.729A>G 3 160073849 UCEC - T Frameshift p.W601Mfs*12 c.1800dupA 3 159997017 COREAD T G Missense p.N362T c.1085A>C 3 160021769 STAD T G Missense p.S669R c.2005A>C 3 159995188 LUSC