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 42727138 42727138 + Missense_Mutation SNP G G A TCGA-UY-A8OB-01A-12D-A42E-08 TCGA-UY-A8OB-11A-12D-A42H-08 g.chr3:42727138G>A c.28G>A c.(28-30)Gag>Aag p.E10K BLCA 3 42727254 42727254 + Silent SNP C C T TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr3:42727254C>T c.144C>T c.(142-144)cgC>cgT p.R48R BLCA 3 42727309 42727309 + Missense_Mutation SNP G G C TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr3:42727309G>C c.199G>C c.(199-201)Gag>Cag p.E67Q BLCA 3 42727379 42727379 + Missense_Mutation SNP A A T TCGA-KQ-A41O-01A-12D-A34U-08 TCGA-KQ-A41O-10D-01D-A34X-08 g.chr3:42727379A>T c.269A>T c.(268-270)tAc>tTc p.Y90F BLCA 3 42727475 42727475 + Missense_Mutation SNP C C T TCGA-KQ-A41R-01A-21D-A34U-08 TCGA-KQ-A41R-10G-01D-A34X-08 g.chr3:42727475C>T c.365C>T c.(364-366)tCc>tTc p.S122F BLCA 3 42727789 42727789 + Missense_Mutation SNP C C T TCGA-CF-A3MG-01A-11D-A20D-08 TCGA-CF-A3MG-10A-01D-A20D-08 g.chr3:42727789C>T c.679C>T c.(679-681)Cgc>Tgc p.R227C BLCA 3 42727855 42727855 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr3:42727855G>A c.745G>A c.(745-747)Gag>Aag p.E249K BLCA 3 42729672 42729672 + Silent SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:42729672G>A c.1191G>A c.(1189-1191)ccG>ccA p.P397P BLCA 3 42730205 42730205 + Missense_Mutation SNP G G A TCGA-UY-A9PB-01A-11D-A38G-08 TCGA-UY-A9PB-10A-01D-A38J-08 g.chr3:42730205G>A c.1417G>A c.(1417-1419)Gac>Aac p.D473N BLCA 3 42730464 42730464 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr3:42730464G>A c.1525G>A c.(1525-1527)Gat>Aat p.D509N BLCA 3 42732383 42732383 + Missense_Mutation SNP G G A TCGA-BT-A2LD-01A-12D-A20D-08 TCGA-BT-A2LD-10A-01D-A20D-08 g.chr3:42732383G>A c.1640G>A c.(1639-1641)cGt>cAt p.R547H BLCA 3 42732463 42732463 + Nonsense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr3:42732463G>T c.1720G>T c.(1720-1722)Gag>Tag p.E574* BRCA 3 42730496 42730496 + Silent SNP C C T TCGA-D8-A3Z6-01A-11D-A23C-09 TCGA-D8-A3Z6-10A-01D-A23C-09 g.chr3:42730496C>T c.1557C>T c.(1555-1557)acC>acT p.T519T BRCA 3 42733450 42733450 + Missense_Mutation SNP G G T TCGA-AN-A0XU-01A-11D-A10G-09 TCGA-AN-A0XU-10A-01D-A10G-09 g.chr3:42733450G>T c.1831G>T c.(1831-1833)Gtg>Ttg p.V611L COAD 3 42727161 42727161 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:42727161G>A c.51G>A c.(49-51)acG>acA p.T17T COAD 3 42727230 42727230 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:42727230C>T c.120C>T c.(118-120)ggC>ggT p.G40G COAD 3 42727420 42727420 + Silent SNP T T C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr3:42727420T>C c.310T>C c.(310-312)Ttg>Ctg p.L104L COAD 3 42727514 42727514 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:42727514C>T c.404C>T c.(403-405)gCc>gTc p.A135V COAD 3 42727555 42727555 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:42727555G>A c.445G>A c.(445-447)Gcc>Acc p.A149T COAD 3 42727843 42727843 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:42727843C>T c.733C>T c.(733-735)Cgt>Tgt p.R245C COAD 3 42728088 42728088 + Missense_Mutation SNP G G T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:42728088G>T c.978G>T c.(976-978)gaG>gaT p.E326D COAD 3 42728144 42728144 + Missense_Mutation SNP A A G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr3:42728144A>G c.1034A>G c.(1033-1035)aAc>aGc p.N345S COAD 3 42730192 42730192 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:42730192C>T c.1404C>T c.(1402-1404)ggC>ggT p.G468G COAD 3 42730397 42730397 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:42730397G>T c.1458G>T c.(1456-1458)aaG>aaT p.K486N COAD 3 42732452 42732452 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:42732452C>T c.1709C>T c.(1708-1710)aCg>aTg p.T570M COADREAD 3 42727161 42727161 + Silent SNP G G A TCGA-CK-4950-01A-01D-1719-10 TCGA-CK-4950-10A-01D-1719-10 g.chr3:42727161G>A c.51G>A c.(49-51)acG>acA p.T17T COADREAD 3 42727230 42727230 + Silent SNP C C T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr3:42727230C>T c.120C>T c.(118-120)ggC>ggT p.G40G COADREAD 3 42727420 42727420 + Silent SNP T T C TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr3:42727420T>C c.310T>C c.(310-312)Ttg>Ctg p.L104L COADREAD 3 42727514 42727514 + Missense_Mutation SNP C C T TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr3:42727514C>T c.404C>T c.(403-405)gCc>gTc p.A135V COADREAD 3 42727555 42727555 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr3:42727555G>A c.445G>A c.(445-447)Gcc>Acc p.A149T COADREAD 3 42727843 42727843 + Missense_Mutation SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr3:42727843C>T c.733C>T c.(733-735)Cgt>Tgt p.R245C COADREAD 3 42728088 42728088 + Missense_Mutation SNP G G T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr3:42728088G>T c.978G>T c.(976-978)gaG>gaT p.E326D COADREAD 3 42728144 42728144 + Missense_Mutation SNP A A G TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr3:42728144A>G c.1034A>G c.(1033-1035)aAc>aGc p.N345S COADREAD 3 42728220 42728220 + Silent SNP C C T TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr3:42728220C>T c.1110C>T c.(1108-1110)aaC>aaT p.N370N COADREAD 3 42729760 42729760 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:42729760C>T c.1279C>T c.(1279-1281)Cgc>Tgc p.R427C COADREAD 3 42730192 42730192 + Silent SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr3:42730192C>T c.1404C>T c.(1402-1404)ggC>ggT p.G468G COADREAD 3 42730397 42730397 + Missense_Mutation SNP G G T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr3:42730397G>T c.1458G>T c.(1456-1458)aaG>aaT p.K486N COADREAD 3 42732452 42732452 + Missense_Mutation SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr3:42732452C>T c.1709C>T c.(1708-1710)aCg>aTg p.T570M ESCA 3 42727547 42727547 + Missense_Mutation SNP C C T TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr3:42727547C>T c.437C>T c.(436-438)gCg>gTg p.A146V ESCA 3 42730124 42730124 + Missense_Mutation SNP G G T TCGA-2H-A9GM-01A-11D-A37C-09 TCGA-2H-A9GM-11A-11D-A37F-09 g.chr3:42730124G>T c.1336G>T c.(1336-1338)Gac>Tac p.D446Y ESCA 3 42733464 42733464 + Silent SNP G G A TCGA-ZR-A9CJ-01B-11D-A387-09 TCGA-ZR-A9CJ-10A-01D-A38A-09 g.chr3:42733464G>A c.1845G>A c.(1843-1845)gtG>gtA p.V615V GBM 3 42729720 42729720 + Silent SNP C C T TCGA-06-0649-01B-01W-0348-08 TCGA-06-0649-10A-01W-0348-08 g.chr3:42729720C>T c.1239C>T c.(1237-1239)tcC>tcT p.S413S GBMLGG 3 42727515 42727515 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:42727515C>T c.405C>T c.(403-405)gcC>gcT p.A135A GBMLGG 3 42727549 42727549 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 g.chr3:42727549C>T c.439C>T c.(439-441)Cgt>Tgt p.R147C GBMLGG 3 42728038 42728038 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:42728038C>A c.928C>A c.(928-930)Ctg>Atg p.L310M GBMLGG 3 42729720 42729720 + Silent SNP C C T TCGA-06-0649-01B-01W-0348-08 TCGA-06-0649-10A-01W-0348-08 g.chr3:42729720C>T c.1239C>T c.(1237-1239)tcC>tcT p.S413S HNSC 3 42727527 42727527 + Silent SNP C C T TCGA-CV-7440-01A-11D-2129-08 TCGA-CV-7440-10A-01D-2129-08 g.chr3:42727527C>T c.417C>T c.(415-417)ctC>ctT p.L139L HNSC 3 42728005 42728005 + Missense_Mutation SNP G G A TCGA-IQ-A61E-01A-22D-A30E-08 TCGA-IQ-A61E-10A-01D-A30H-08 g.chr3:42728005G>A c.895G>A c.(895-897)Gaa>Aaa p.E299K HNSC 3 42728008 42728008 + Missense_Mutation SNP C C G TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chr3:42728008C>G c.898C>G c.(898-900)Cgt>Ggt p.R300G KICH 3 42730128 42730128 + Missense_Mutation SNP C C T TCGA-KN-8422-01A-11D-2310-10 TCGA-KN-8422-11A-01D-2310-10 g.chr3:42730128C>T c.1340C>T c.(1339-1341)cCg>cTg p.P447L KIPAN 3 42727131 42727131 + Silent SNP G G A TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr3:42727131G>A c.21G>A c.(19-21)caG>caA p.Q7Q KIPAN 3 42727420 42727420 + Missense_Mutation SNP T T A TCGA-AK-3434-01A-02D-1361-10 TCGA-AK-3434-10A-01D-1361-10 g.chr3:42727420T>A c.310T>A c.(310-312)Ttg>Atg p.L104M KIPAN 3 42730128 42730128 + Missense_Mutation SNP C C T TCGA-KN-8422-01A-11D-2310-10 TCGA-KN-8422-11A-01D-2310-10 g.chr3:42730128C>T c.1340C>T c.(1339-1341)cCg>cTg p.P447L KIPAN 3 42730387 42730387 + Missense_Mutation SNP A A G TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr3:42730387A>G c.1448A>G c.(1447-1449)tAt>tGt p.Y483C KIRC 3 42727420 42727420 + Missense_Mutation SNP T T A TCGA-AK-3434-01A-02D-1361-10 TCGA-AK-3434-10A-01D-1361-10 g.chr3:42727420T>A c.310T>A c.(310-312)Ttg>Atg p.L104M KIRP 3 42727131 42727131 + Silent SNP G G A TCGA-A4-7734-01A-11D-2136-08 TCGA-A4-7734-10A-01D-2136-08 g.chr3:42727131G>A c.21G>A c.(19-21)caG>caA p.Q7Q KIRP 3 42730387 42730387 + Missense_Mutation SNP A A G TCGA-PJ-A8JU-01A-11D-A35Z-10 TCGA-PJ-A8JU-10A-01D-A35Z-10 g.chr3:42730387A>G c.1448A>G c.(1447-1449)tAt>tGt p.Y483C LGG 3 42727515 42727515 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:42727515C>T c.405C>T c.(403-405)gcC>gcT p.A135A LGG 3 42727549 42727549 + Missense_Mutation SNP C C T TCGA-DU-A6S7-01A-21D-A32B-08 TCGA-DU-A6S7-10A-01D-A329-08 g.chr3:42727549C>T c.439C>T c.(439-441)Cgt>Tgt p.R147C LGG 3 42728038 42728038 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:42728038C>A c.928C>A c.(928-930)Ctg>Atg p.L310M LIHC 3 42727774 42727774 + Missense_Mutation SNP G G A TCGA-2Y-A9H4-01A-11D-A382-10 TCGA-2Y-A9H4-10A-01D-A385-10 g.chr3:42727774G>A c.664G>A c.(664-666)Gag>Aag p.E222K LUAD 3 42727276 42727276 + Missense_Mutation SNP C C T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:42727276C>T c.166C>T c.(166-168)Ccc>Tcc p.P56S LUAD 3 42727389 42727389 + Missense_Mutation SNP G G C TCGA-69-7980-01A-11D-2184-08 TCGA-69-7980-10A-01D-2184-08 g.chr3:42727389G>C c.279G>C c.(277-279)gaG>gaC p.E93D LUAD 3 42727898 42727898 + Missense_Mutation SNP G G T TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr3:42727898G>T c.788G>T c.(787-789)gGc>gTc p.G263V LUAD 3 42730389 42730389 + Missense_Mutation SNP G G A TCGA-99-8025-01A-11D-2238-08 TCGA-99-8025-10A-01D-2238-08 g.chr3:42730389G>A c.1450G>A c.(1450-1452)Gac>Aac p.D484N LUAD 3 42730470 42730470 + Missense_Mutation SNP C C T TCGA-38-4632-01A-01D-1753-08 TCGA-38-4632-11A-01D-1753-08 g.chr3:42730470C>T c.1531C>T c.(1531-1533)Cgc>Tgc p.R511C LUAD 3 42733406 42733406 + Missense_Mutation SNP T T C TCGA-17-Z007-01A-01W-0746-08 TCGA-17-Z007-11A-01W-0746-08 g.chr3:42733406T>C c.1787T>C c.(1786-1788)gTc>gCc p.V596A LUSC 3 42727965 42727965 + Silent SNP G G A TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr3:42727965G>A c.855G>A c.(853-855)aaG>aaA p.K285K LUSC 3 42728049 42728049 + Silent SNP C C G TCGA-43-2578-01A-01D-1522-08 TCGA-43-2578-11A-01D-1522-08 g.chr3:42728049C>G c.939C>G c.(937-939)ggC>ggG p.G313G LUSC 3 42728173 42728173 + Missense_Mutation SNP G G T TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr3:42728173G>T c.1063G>T c.(1063-1065)Gtt>Ttt p.V355F LUSC 3 42728190 42728190 + Silent SNP G G A TCGA-34-5239-01A-21D-1817-08 TCGA-34-5239-10A-01D-1817-08 g.chr3:42728190G>A c.1080G>A c.(1078-1080)caG>caA p.Q360Q LUSC 3 42729743 42729743 + Missense_Mutation SNP A A T TCGA-63-5131-01A-01D-1441-08 TCGA-63-5131-10A-01D-1441-08 g.chr3:42729743A>T c.1262A>T c.(1261-1263)gAg>gTg p.E421V LUSC 3 42729785 42729785 + Missense_Mutation SNP A A G TCGA-60-2708-01A-01D-1522-08 TCGA-60-2708-11A-01D-1522-08 g.chr3:42729785A>G c.1304A>G c.(1303-1305)tAc>tGc p.Y435C LUSC 3 42730526 42730526 + Silent SNP G G T TCGA-39-5031-01A-01D-1441-08 TCGA-39-5031-11A-01D-1441-08 g.chr3:42730526G>T c.1587G>T c.(1585-1587)gtG>gtT p.V529V OV 3 42727422 42727422 + Missense_Mutation SNP G G T TCGA-09-2050-01A-01W-0799-08 TCGA-09-2050-10A-01W-0799-08 g.chr3:42727422G>T c.312G>T c.(310-312)ttG>ttT p.L104F OV 3 42727774 42727774 + Missense_Mutation SNP G G A TCGA-23-1029-01B-01W-0639-09 TCGA-23-1029-10A-01W-0639-09 g.chr3:42727774G>A c.664G>A c.(664-666)Gag>Aag p.E222K OV 3 42727990 42727990 + Nonsense_Mutation SNP G G T TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr3:42727990G>T c.880G>T c.(880-882)Gag>Tag p.E294* OV 3 42729685 42729685 + Missense_Mutation SNP C C T TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 g.chr3:42729685C>T c.1204C>T c.(1204-1206)Cgc>Tgc p.R402C PAAD 3 42727236 42727236 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:42727236C>T c.126C>T c.(124-126)cgC>cgT p.R42R PAAD 3 42727555 42727555 + Missense_Mutation SNP G G A TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr3:42727555G>A c.445G>A c.(445-447)Gcc>Acc p.A149T PAAD 3 42728164 42728164 + Missense_Mutation SNP G G A TCGA-FZ-5924-01A-13D-1609-08 TCGA-FZ-5924-11A-01D-1609-08 g.chr3:42728164G>A c.1054G>A c.(1054-1056)Gtc>Atc p.V352I PAAD 3 42729786 42729786 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:42729786C>T c.1305C>T c.(1303-1305)taC>taT p.Y435Y READ 3 42728220 42728220 + Silent SNP C C T TCGA-CI-6622-01A-11D-1826-10 TCGA-CI-6622-10A-01D-1826-10 g.chr3:42728220C>T c.1110C>T c.(1108-1110)aaC>aaT p.N370N READ 3 42729760 42729760 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:42729760C>T c.1279C>T c.(1279-1281)Cgc>Tgc p.R427C SKCM 3 42727348 42727348 + Missense_Mutation SNP G G A TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr3:42727348G>A c.238G>A c.(238-240)Gac>Aac p.D80N SKCM 3 42727348 42727348 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:42727348G>A c.238G>A c.(238-240)Gac>Aac p.D80N SKCM 3 42727633 42727633 + Missense_Mutation SNP G G A TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr3:42727633G>A c.523G>A c.(523-525)Gac>Aac p.D175N SKCM 3 42728022 42728022 + Silent SNP G G A TCGA-FS-A1Z4-06A-11D-A197-08 TCGA-FS-A1Z4-10A-01D-A199-08 g.chr3:42728022G>A c.912G>A c.(910-912)ggG>ggA p.G304G SKCM 3 42728091 42728091 + Silent SNP C C T TCGA-FS-A1ZU-06A-12D-A196-08 TCGA-FS-A1ZU-10A-01D-A198-08 g.chr3:42728091C>T c.981C>T c.(979-981)ggC>ggT p.G327G SKCM 3 42728211 42728211 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:42728211C>T c.1101C>T c.(1099-1101)ctC>ctT p.L367L SKCM 3 42728221 42728221 + Missense_Mutation SNP G G A TCGA-FS-A1ZP-06A-11D-A197-08 TCGA-FS-A1ZP-10A-01D-A199-08 g.chr3:42728221G>A c.1111G>A c.(1111-1113)Gaa>Aaa p.E371K SKCM 3 42729662 42729662 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr3:42729662G>A c.1181G>A c.(1180-1182)gGg>gAg p.G394E SKCM 3 42729691 42729691 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:42729691C>T c.1210C>T c.(1210-1212)Ctc>Ttc p.L404F SKCM 3 42729765 42729765 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:42729765C>T c.1284C>T c.(1282-1284)tgC>tgT p.C428C SKCM 3 42729766 42729766 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr3:42729766C>T c.1285C>T c.(1285-1287)Ctg>Ttg p.L429L SKCM 3 42730461 42730461 + Missense_Mutation SNP C C T TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr3:42730461C>T c.1522C>T c.(1522-1524)Cat>Tat p.H508Y SKCM 3 42732372 42732372 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:42732372C>T c.1629C>T c.(1627-1629)ttC>ttT p.F543F SKCM 3 42732406 42732406 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr3:42732406C>T c.1663C>T c.(1663-1665)Ctg>Ttg p.L555L SKCM 3 42732418 42732418 + Missense_Mutation SNP C C T TCGA-ER-A2NC-06A-11D-A197-08 TCGA-ER-A2NC-10A-01D-A199-08 g.chr3:42732418C>T c.1675C>T c.(1675-1677)Ctc>Ttc p.L559F SKCM 3 42733374 42733374 + Splice_Site SNP G G A TCGA-EE-A20B-06A-11D-A196-08 TCGA-EE-A20B-10A-01D-A198-08 g.chr3:42733374G>A c.1755G>A c.(1753-1755)agG>agA p.R585R SKCM 3 42733442 42733442 + Missense_Mutation SNP T T G TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr3:42733442T>G c.1823T>G c.(1822-1824)tTc>tGc p.F608C

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 42729665 42729665 single base substitution T G missense_variant M395R 1184T>G BLCA-US 3 42727254 42727254 single base substitution C T synonymous_variant R48R 144C>T BLCA-US 3 42727789 42727789 single base substitution C T missense_variant R227C 679C>T BLCA-US 3 42730464 42730464 single base substitution G A missense_variant D509N 1525G>A BLCA-US 3 42732383 42732383 single base substitution G A missense_variant R547H 1640G>A BLCA-US 3 42734575 42734575 single base substitution G A downstream_gene_variant BRCA-EU 3 42722362 42722362 single base substitution C G upstream_gene_variant BRCA-EU 3 42726716 42726716 single base substitution C A upstream_gene_variant BRCA-EU 3 42727008 42727008 single base substitution G T upstream_gene_variant BRCA-EU 3 42728737 42728737 single base substitution A G intron_variant BRCA-EU 3 42729297 42729297 single base substitution G A intron_variant BRCA-EU 3 42729937 42729937 deletion of <=200bp G - intron_variant BRCA-EU 3 42731586 42731586 single base substitution G A intron_variant BRCA-EU 3 42732103 42732103 single base substitution C T intron_variant BRCA-EU 3 42732364 42732364 single base substitution G A missense_variant E541K 1621G>A BRCA-EU 3 42735977 42735977 single base substitution G A downstream_gene_variant BRCA-EU 3 42736161 42736161 deletion of <=200bp C - downstream_gene_variant BRCA-EU 3 42736365 42736365 single base substitution C A downstream_gene_variant BRCA-EU 3 42736461 42736461 single base substitution G C downstream_gene_variant BRCA-EU 3 42738065 42738065 single base substitution C T downstream_gene_variant BRCA-EU 3 42738158 42738158 single base substitution C T downstream_gene_variant BRCA-EU 3 42738538 42738538 single base substitution G T downstream_gene_variant BRCA-FR 3 42728737 42728737 single base substitution A G intron_variant BRCA-FR 3 42731639 42731639 single base substitution G C intron_variant BRCA-FR 3 42732103 42732103 single base substitution C T intron_variant BRCA-FR 3 42738158 42738158 single base substitution C T downstream_gene_variant BRCA-UK 3 42727558 42727558 single base substitution G A missense_variant V150M 448G>A BRCA-UK 3 42735977 42735977 single base substitution G A downstream_gene_variant BRCA-UK 3 42736461 42736461 single base substitution G C downstream_gene_variant BRCA-UK 3 42738584 42738584 single base substitution A G downstream_gene_variant BRCA-US 3 42730496 42730496 single base substitution C T synonymous_variant T519T 1557C>T BRCA-US 3 42733450 42733450 single base substitution G T missense_variant V611L 1831G>T BTCA-JP 3 42727437 42727437 deletion of <=200bp C - frameshift_variant H109 BTCA-JP 3 42728081 42728081 single base substitution G C missense_variant S324T 971G>C BTCA-JP 3 42729621 42729621 single base substitution A G intron_variant BTCA-JP 3 42730042 42730042 single base substitution C T intron_variant BTCA-JP 3 42730648 42730648 single base substitution C G intron_variant BTCA-JP 3 42734626 42734626 single base substitution C T downstream_gene_variant CESC-US 3 42735141 42735141 single base substitution G A downstream_gene_variant COAD-US 3 42727161 42727161 single base substitution G A synonymous_variant T17T 51G>A COAD-US 3 42727318 42727318 single base substitution G A missense_variant G70S 208G>A COAD-US 3 42727514 42727514 single base substitution C T missense_variant A135V 404C>T COAD-US 3 42727555 42727555 single base substitution G A missense_variant A149T 445G>A COAD-US 3 42727843 42727843 single base substitution C T missense_variant R245C 733C>T COAD-US 3 42730192 42730192 single base substitution C T synonymous_variant G468G 1404C>T COAD-US 3 42732404 42732404 single base substitution G T missense_variant S554I 1661G>T COCA-CN 3 42727635 42727635 single base substitution C T synonymous_variant D175D 525C>T COCA-CN 3 42727803 42727803 single base substitution C T synonymous_variant R231R 693C>T COCA-CN 3 42730026 42730026 single base substitution C T intron_variant COCA-CN 3 42730299 42730299 single base substitution T G intron_variant COCA-CN 3 42730438 42730438 single base substitution G A missense_variant R500H 1499G>A COCA-CN 3 42730470 42730470 single base substitution C T missense_variant R511C 1531C>T COCA-CN 3 42733310 42733310 single base substitution C T intron_variant COCA-CN 3 42733420 42733420 single base substitution G A missense_variant A601T 1801G>A COCA-CN 3 42734169 42734169 single base substitution C A downstream_gene_variant COCA-CN 3 42738485 42738485 single base substitution G T downstream_gene_variant COCA-CN 3 42738590 42738590 single base substitution C T downstream_gene_variant COCA-CN 3 42738595 42738595 single base substitution G A downstream_gene_variant COCA-CN 3 42738624 42738624 single base substitution A G downstream_gene_variant COCA-CN 3 42738740 42738740 single base substitution C T downstream_gene_variant EOPC-DE 3 42725481 42725481 single base substitution C T upstream_gene_variant ESAD-UK 3 42722400 42722400 single base substitution G T upstream_gene_variant ESAD-UK 3 42727768 42727768 single base substitution G A missense_variant V220I 658G>A ESAD-UK 3 42730356 42730356 single base substitution C T splice_region_variant ESAD-UK 3 42738186 42738186 single base substitution A G downstream_gene_variant ESAD-UK 3 42738380 42738380 single base substitution A T downstream_gene_variant ESAD-UK 3 42738498 42738498 single base substitution C T downstream_gene_variant ESCA-CN 3 42727431 42727431 single base substitution G A synonymous_variant A107A 321G>A ESCA-CN 3 42727716 42727716 single base substitution G A synonymous_variant A202A 606G>A ESCA-CN 3 42727916 42727916 single base substitution G A missense_variant R269Q 806G>A GBM-US 3 42729720 42729720 single base substitution C T synonymous_variant S413S 1239C>T KIRC-US 3 42727420 42727420 single base substitution T A missense_variant L104M 310T>A KIRC-US 3 42734320 42734320 single base substitution C T downstream_gene_variant KIRP-US 3 42727131 42727131 single base substitution G A synonymous_variant Q7Q 21G>A LAML-KR 3 42734301 42734301 single base substitution C T downstream_gene_variant LAML-KR 3 42738732 42738732 single base substitution G T downstream_gene_variant LICA-CN 3 42727684 42727684 single base substitution G A missense_variant E192K 574G>A LICA-FR 3 42722516 42722516 single base substitution G A upstream_gene_variant LICA-FR 3 42729686 42729686 single base substitution G A missense_variant R402H 1205G>A LICA-FR 3 42730203 42730203 single base substitution G C missense_variant S472T 1415G>C LICA-FR 3 42735214 42735214 single base substitution C T downstream_gene_variant LIHC-US 3 42738590 42738590 single base substitution C T downstream_gene_variant LINC-JP 3 42727726 42727726 single base substitution G A missense_variant D206N 616G>A LINC-JP 3 42727879 42727879 single base substitution G A missense_variant V257M 769G>A LINC-JP 3 42734821 42734821 single base substitution G C downstream_gene_variant LINC-JP 3 42735638 42735638 single base substitution C T downstream_gene_variant LINC-JP 3 42739027 42739027 single base substitution C A downstream_gene_variant LIRI-JP 3 42722448 42722448 single base substitution T C upstream_gene_variant LIRI-JP 3 42723145 42723145 single base substitution A T upstream_gene_variant LIRI-JP 3 42723197 42723197 single base substitution T C upstream_gene_variant LIRI-JP 3 42729222 42729223 deletion of <=200bp TG - intron_variant LIRI-JP 3 42731041 42731041 single base substitution A G intron_variant LIRI-JP 3 42731883 42731883 single base substitution G A intron_variant LIRI-JP 3 42732697 42732697 single base substitution C T intron_variant LIRI-JP 3 42733929 42733929 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 42736645 42736645 single base substitution G T downstream_gene_variant LIRI-JP 3 42738408 42738408 single base substitution G A downstream_gene_variant LIRI-JP 3 42738696 42738696 single base substitution A G downstream_gene_variant LUSC-KR 3 42728073 42728073 single base substitution C G missense_variant F321L 963C>G LUSC-KR 3 42731959 42731959 single base substitution G T intron_variant LUSC-KR 3 42732036 42732036 single base substitution T C intron_variant LUSC-KR 3 42733208 42733208 single base substitution G T intron_variant LUSC-KR 3 42738260 42738260 single base substitution G T downstream_gene_variant LUSC-KR 3 42738698 42738698 single base substitution A C downstream_gene_variant LUSC-KR 3 42739001 42739001 single base substitution G A downstream_gene_variant LUSC-US 3 42727965 42727965 single base substitution G A synonymous_variant K285K 855G>A LUSC-US 3 42728049 42728049 single base substitution C G synonymous_variant G313G 939C>G LUSC-US 3 42728173 42728173 single base substitution G T missense_variant V355F 1063G>T LUSC-US 3 42728190 42728190 single base substitution G A synonymous_variant Q360Q 1080G>A LUSC-US 3 42729743 42729743 single base substitution A T missense_variant E421V 1262A>T LUSC-US 3 42729785 42729785 single base substitution A G missense_variant Y435C 1304A>G LUSC-US 3 42730526 42730526 single base substitution G T synonymous_variant V529V 1587G>T LUSC-US 3 42738546 42738546 single base substitution C T downstream_gene_variant MALY-DE 3 42723211 42723211 single base substitution G A upstream_gene_variant MALY-DE 3 42724491 42724491 single base substitution C T upstream_gene_variant MALY-DE 3 42728285 42728285 single base substitution C A intron_variant MALY-DE 3 42735015 42735015 single base substitution T G downstream_gene_variant MELA-AU 3 42722144 42722144 single base substitution G A upstream_gene_variant MELA-AU 3 42722243 42722243 single base substitution G A upstream_gene_variant MELA-AU 3 42722515 42722515 single base substitution G A upstream_gene_variant MELA-AU 3 42722909 42722909 single base substitution C T upstream_gene_variant MELA-AU 3 42723100 42723100 single base substitution C T upstream_gene_variant MELA-AU 3 42723144 42723144 single base substitution G A upstream_gene_variant MELA-AU 3 42723231 42723231 single base substitution C T upstream_gene_variant MELA-AU 3 42723553 42723553 single base substitution C T upstream_gene_variant MELA-AU 3 42723651 42723651 single base substitution C T upstream_gene_variant MELA-AU 3 42724104 42724104 single base substitution C T upstream_gene_variant MELA-AU 3 42724410 42724410 single base substitution G A upstream_gene_variant MELA-AU 3 42724707 42724707 single base substitution G A upstream_gene_variant MELA-AU 3 42724798 42724798 single base substitution A G upstream_gene_variant MELA-AU 3 42724917 42724917 single base substitution G A upstream_gene_variant MELA-AU 3 42725384 42725384 single base substitution G A upstream_gene_variant MELA-AU 3 42726551 42726551 single base substitution G A upstream_gene_variant MELA-AU 3 42726639 42726639 single base substitution C T upstream_gene_variant MELA-AU 3 42726812 42726812 single base substitution C T upstream_gene_variant MELA-AU 3 42726882 42726882 single base substitution C T upstream_gene_variant MELA-AU 3 42727134 42727134 single base substitution G A synonymous_variant A8A 24G>A MELA-AU 3 42727321 42727321 single base substitution G A missense_variant E71K 211G>A MELA-AU 3 42727622 42727622 single base substitution G A missense_variant G171E 512G>A MELA-AU 3 42727633 42727633 single base substitution G A missense_variant D175N 523G>A MELA-AU 3 42727797 42727797 single base substitution G A synonymous_variant L229L 687G>A MELA-AU 3 42728286 42728286 single base substitution G A intron_variant MELA-AU 3 42728678 42728678 single base substitution G A intron_variant MELA-AU 3 42728679 42728679 single base substitution G A intron_variant MELA-AU 3 42728768 42728768 single base substitution C T intron_variant MELA-AU 3 42728882 42728882 single base substitution G A intron_variant MELA-AU 3 42728969 42728969 single base substitution C T intron_variant MELA-AU 3 42729146 42729146 single base substitution C G intron_variant MELA-AU 3 42729823 42729823 single base substitution C T intron_variant MELA-AU 3 42729928 42729929 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 42729940 42729940 single base substitution G A intron_variant MELA-AU 3 42730095 42730095 single base substitution C T splice_region_variant MELA-AU 3 42730104 42730104 single base substitution C T missense_variant S439L 1316C>T MELA-AU 3 42730270 42730270 single base substitution G A intron_variant MELA-AU 3 42730412 42730412 single base substitution G A synonymous_variant K491K 1473G>A MELA-AU 3 42730764 42730764 single base substitution G A intron_variant MELA-AU 3 42730830 42730830 single base substitution G A intron_variant MELA-AU 3 42731081 42731081 single base substitution G A intron_variant MELA-AU 3 42731151 42731151 single base substitution G A intron_variant MELA-AU 3 42731290 42731290 single base substitution G A intron_variant MELA-AU 3 42731464 42731464 single base substitution G A intron_variant MELA-AU 3 42731729 42731729 single base substitution G A intron_variant MELA-AU 3 42731895 42731895 single base substitution G A intron_variant MELA-AU 3 42731996 42731996 single base substitution G A intron_variant MELA-AU 3 42732202 42732202 single base substitution G A intron_variant MELA-AU 3 42732208 42732208 single base substitution G A intron_variant MELA-AU 3 42732420 42732420 single base substitution C T synonymous_variant L559L 1677C>T MELA-AU 3 42732620 42732620 single base substitution G A intron_variant MELA-AU 3 42733129 42733129 single base substitution G A intron_variant MELA-AU 3 42733135 42733135 single base substitution G A intron_variant MELA-AU 3 42733807 42733807 single base substitution C T 3_prime_UTR_variant MELA-AU 3 42733966 42733966 single base substitution G A 3_prime_UTR_variant MELA-AU 3 42734129 42734129 single base substitution G A downstream_gene_variant MELA-AU 3 42734187 42734187 single base substitution G A downstream_gene_variant MELA-AU 3 42734413 42734413 single base substitution C T downstream_gene_variant MELA-AU 3 42734460 42734460 single base substitution C T downstream_gene_variant MELA-AU 3 42734711 42734711 single base substitution C T downstream_gene_variant MELA-AU 3 42734803 42734803 single base substitution G A downstream_gene_variant MELA-AU 3 42734927 42734927 single base substitution T C downstream_gene_variant MELA-AU 3 42734943 42734943 single base substitution G A downstream_gene_variant MELA-AU 3 42735116 42735116 single base substitution C T downstream_gene_variant MELA-AU 3 42735129 42735129 single base substitution C T downstream_gene_variant MELA-AU 3 42735360 42735360 single base substitution G A downstream_gene_variant MELA-AU 3 42735525 42735525 single base substitution C T downstream_gene_variant MELA-AU 3 42735540 42735540 single base substitution C T downstream_gene_variant MELA-AU 3 42735668 42735668 single base substitution C T downstream_gene_variant MELA-AU 3 42736365 42736365 single base substitution C T downstream_gene_variant MELA-AU 3 42736584 42736584 single base substitution C T downstream_gene_variant MELA-AU 3 42736711 42736711 single base substitution C T downstream_gene_variant MELA-AU 3 42736750 42736750 single base substitution C T downstream_gene_variant MELA-AU 3 42736837 42736837 single base substitution C T downstream_gene_variant MELA-AU 3 42736872 42736872 single base substitution G A downstream_gene_variant MELA-AU 3 42737140 42737140 single base substitution C T downstream_gene_variant MELA-AU 3 42737194 42737194 single base substitution G A downstream_gene_variant MELA-AU 3 42737309 42737309 single base substitution G A downstream_gene_variant MELA-AU 3 42737579 42737579 single base substitution C T downstream_gene_variant MELA-AU 3 42737613 42737613 single base substitution C T downstream_gene_variant MELA-AU 3 42737794 42737794 single base substitution C T downstream_gene_variant MELA-AU 3 42737997 42737997 single base substitution A G downstream_gene_variant MELA-AU 3 42738065 42738065 single base substitution C T downstream_gene_variant MELA-AU 3 42738454 42738454 single base substitution C T downstream_gene_variant MELA-AU 3 42738472 42738472 single base substitution C T downstream_gene_variant MELA-AU 3 42738701 42738701 single base substitution C T downstream_gene_variant MELA-AU 3 42738721 42738721 single base substitution G A downstream_gene_variant MELA-AU 3 42738722 42738722 single base substitution G A downstream_gene_variant MELA-AU 3 42738740 42738740 single base substitution C A downstream_gene_variant MELA-AU 3 42738904 42738904 single base substitution G A downstream_gene_variant MELA-AU 3 42738917 42738917 single base substitution C T downstream_gene_variant MELA-AU 3 42738956 42738956 single base substitution C T downstream_gene_variant MELA-AU 3 42739001 42739001 single base substitution G A downstream_gene_variant ORCA-IN 3 42727192 42727192 single base substitution G T missense_variant D28Y 82G>T ORCA-IN 3 42727609 42727609 single base substitution G T missense_variant A167S 499G>T ORCA-IN 3 42727628 42727628 single base substitution C T missense_variant S173L 518C>T OV-AU 3 42728706 42728706 single base substitution G A intron_variant OV-AU 3 42731903 42731903 single base substitution G T intron_variant OV-AU 3 42732801 42732801 single base substitution C T intron_variant OV-AU 3 42732945 42732945 single base substitution G A intron_variant OV-AU 3 42733527 42733527 single base substitution G A 3_prime_UTR_variant OV-AU 3 42734262 42734262 single base substitution T A downstream_gene_variant OV-AU 3 42737343 42737343 single base substitution A T downstream_gene_variant OV-AU 3 42737915 42737915 single base substitution A G downstream_gene_variant OV-US 3 42734256 42734256 single base substitution T C downstream_gene_variant PACA-AU 3 42727645 42727645 single base substitution G A missense_variant A179T 535G>A PACA-AU 3 42728614 42728614 single base substitution G A intron_variant PACA-AU 3 42730279 42730279 single base substitution C T intron_variant PACA-AU 3 42735061 42735061 single base substitution C T downstream_gene_variant PACA-CA 3 42722741 42722741 single base substitution G T upstream_gene_variant PACA-CA 3 42727747 42727747 single base substitution C T missense_variant R213C 637C>T PACA-CA 3 42728118 42728118 single base substitution C T synonymous_variant N336N 1008C>T PACA-CA 3 42735054 42735054 insertion of <=200bp - C downstream_gene_variant PACA-CA 3 42735611 42735611 single base substitution C T downstream_gene_variant PACA-CA 3 42737567 42737567 single base substitution G A downstream_gene_variant PACA-CA 3 42737890 42737890 single base substitution C T downstream_gene_variant PAEN-IT 3 42735199 42735199 single base substitution G A downstream_gene_variant PBCA-DE 3 42722481 42722481 single base substitution C G upstream_gene_variant PBCA-DE 3 42728848 42728848 single base substitution C T intron_variant PBCA-DE 3 42734320 42734320 single base substitution C T downstream_gene_variant PRAD-UK 3 42729652 42729652 single base substitution G A missense_variant E391K 1171G>A PRAD-UK 3 42731752 42731752 single base substitution G A intron_variant PRAD-UK 3 42735949 42735949 single base substitution C G downstream_gene_variant PRAD-UK 3 42736912 42736912 single base substitution C A downstream_gene_variant PRAD-UK 3 42738395 42738395 single base substitution G A downstream_gene_variant READ-US 3 42728220 42728220 single base substitution C T synonymous_variant N370N 1110C>T RECA-EU 3 42723855 42723855 single base substitution A T upstream_gene_variant RECA-EU 3 42736185 42736185 single base substitution G A downstream_gene_variant RECA-EU 3 42737387 42737387 single base substitution T A downstream_gene_variant SKCA-BR 3 42722992 42722992 single base substitution C T upstream_gene_variant SKCA-BR 3 42724452 42724452 single base substitution G A upstream_gene_variant SKCA-BR 3 42727479 42727479 single base substitution C T synonymous_variant F123F 369C>T SKCA-BR 3 42727719 42727719 single base substitution T G synonymous_variant G203G 609T>G SKCA-BR 3 42728248 42728248 single base substitution G A missense_variant A380T 1138G>A SKCA-BR 3 42730717 42730717 single base substitution T G intron_variant SKCA-BR 3 42733013 42733013 single base substitution T G intron_variant SKCA-BR 3 42733729 42733729 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 42733735 42733735 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 42733760 42733760 single base substitution G A 3_prime_UTR_variant SKCA-BR 3 42734867 42734867 single base substitution G A downstream_gene_variant SKCA-BR 3 42735287 42735287 single base substitution C T downstream_gene_variant SKCA-BR 3 42738027 42738027 single base substitution C T downstream_gene_variant SKCA-BR 3 42738755 42738755 single base substitution C T downstream_gene_variant SKCM-US 3 42727348 42727348 single base substitution G A missense_variant D80N 238G>A SKCM-US 3 42727451 42727451 single base substitution C T missense_variant P114L 341C>T SKCM-US 3 42727633 42727633 single base substitution G A missense_variant D175N 523G>A SKCM-US 3 42727939 42727939 single base substitution G A missense_variant G277R 829G>A SKCM-US 3 42728022 42728022 single base substitution G A synonymous_variant G304G 912G>A SKCM-US 3 42728091 42728091 single base substitution C T synonymous_variant G327G 981C>T SKCM-US 3 42728211 42728211 single base substitution C T synonymous_variant L367L 1101C>T SKCM-US 3 42728221 42728221 single base substitution G A missense_variant E371K 1111G>A SKCM-US 3 42729662 42729662 single base substitution G A missense_variant G394E 1181G>A SKCM-US 3 42729691 42729691 single base substitution C T missense_variant L404F 1210C>T SKCM-US 3 42729787 42729787 single base substitution G A missense_variant D436N 1306G>A SKCM-US 3 42730445 42730445 single base substitution C T synonymous_variant L502L 1506C>T SKCM-US 3 42730461 42730461 single base substitution C T missense_variant H508Y 1522C>T SKCM-US 3 42732372 42732372 single base substitution C T synonymous_variant F543F 1629C>T SKCM-US 3 42732406 42732406 single base substitution C T synonymous_variant L555L 1663C>T SKCM-US 3 42732418 42732418 single base substitution C T missense_variant L559F 1675C>T SKCM-US 3 42733374 42733374 single base substitution G A splice_region_variant SKCM-US 3 42733442 42733442 single base substitution T G missense_variant F608C 1823T>G SKCM-US 3 42734255 42734255 single base substitution C T downstream_gene_variant SKCM-US 3 42734363 42734363 single base substitution G A downstream_gene_variant SKCM-US 3 42734629 42734629 single base substitution G A downstream_gene_variant SKCM-US 3 42734673 42734673 single base substitution G A downstream_gene_variant SKCM-US 3 42735116 42735116 single base substitution C T downstream_gene_variant SKCM-US 3 42735179 42735179 single base substitution T G downstream_gene_variant SKCM-US 3 42735229 42735229 single base substitution G A downstream_gene_variant SKCM-US 3 42738351 42738351 single base substitution G A downstream_gene_variant SKCM-US 3 42738519 42738519 single base substitution G A downstream_gene_variant SKCM-US 3 42738627 42738627 single base substitution G A downstream_gene_variant STAD-US 3 42727236 42727236 single base substitution C T synonymous_variant R42R 126C>T STAD-US 3 42727322 42727322 single base substitution A G missense_variant E71G 212A>G STAD-US 3 42727516 42727516 single base substitution G A missense_variant V136I 406G>A STAD-US 3 42727728 42727728 single base substitution C T synonymous_variant D206D 618C>T STAD-US 3 42727821 42727821 single base substitution C T synonymous_variant R237R 711C>T STAD-US 3 42727916 42727916 single base substitution G A missense_variant R269Q 806G>A STAD-US 3 42728053 42728053 single base substitution T C missense_variant F315L 943T>C STAD-US 3 42730438 42730438 single base substitution G A missense_variant R500H 1499G>A STAD-US 3 42733380 42733380 single base substitution C T synonymous_variant N587N 1761C>T STAD-US 3 42735237 42735237 single base substitution C T downstream_gene_variant STAD-US 3 42735277 42735277 single base substitution G A downstream_gene_variant STAD-US 3 42735292 42735292 single base substitution A G downstream_gene_variant STAD-US 3 42738538 42738538 single base substitution G T downstream_gene_variant THCA-SA 3 42727833 42727833 deletion of <=200bp C - frameshift_variant H241 THCA-US 3 42727577 42727577 single base substitution T A missense_variant I156N 467T>A UCEC-US 3 42727046 42727046 single base substitution G T 5_prime_UTR_variant UCEC-US 3 42727267 42727267 single base substitution G T missense_variant A53S 157G>T UCEC-US 3 42727289 42727289 single base substitution C T missense_variant A60V 179C>T UCEC-US 3 42727392 42727392 single base substitution C T synonymous_variant I94I 282C>T UCEC-US 3 42727695 42727695 single base substitution C T synonymous_variant F195F 585C>T UCEC-US 3 42727737 42727737 single base substitution G A synonymous_variant A209A 627G>A UCEC-US 3 42727748 42727748 single base substitution G A missense_variant R213H 638G>A UCEC-US 3 42727784 42727784 single base substitution G A missense_variant R225H 674G>A UCEC-US 3 42727820 42727820 single base substitution G A missense_variant R237H 710G>A UCEC-US 3 42727916 42727916 single base substitution G A missense_variant R269Q 806G>A UCEC-US 3 42727964 42727964 single base substitution A C missense_variant K285T 854A>C UCEC-US 3 42728046 42728046 single base substitution C T synonymous_variant F312F 936C>T UCEC-US 3 42728247 42728247 single base substitution C T synonymous_variant S379S 1137C>T UCEC-US 3 42728256 42728256 single base substitution C T synonymous_variant F382F 1146C>T UCEC-US 3 42729654 42729654 single base substitution G A synonymous_variant E391E 1173G>A UCEC-US 3 42729742 42729742 single base substitution G T stop_gained E421* 1261G>T UCEC-US 3 42730159 42730159 single base substitution G A synonymous_variant V457V 1371G>A UCEC-US 3 42730206 42730206 single base substitution A G missense_variant D473G 1418A>G UCEC-US 3 42730228 42730228 single base substitution T C intron_variant UCEC-US 3 42730434 42730434 single base substitution G A missense_variant A499T 1495G>A UCEC-US 3 42732400 42732400 single base substitution G A missense_variant V553I 1657G>A UCEC-US 3 42733342 42733342 single base substitution C A intron_variant UCEC-US 3 42734255 42734255 single base substitution C A downstream_gene_variant UCEC-US 3 42734297 42734297 single base substitution C T downstream_gene_variant UCEC-US 3 42735116 42735116 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PCSI_0355_Pa_P_526 COSM3781815 c.637C>T p.R213C Substitution - Missense 3:42686255-42686255 + SC_9047 COSM5551439 c.308A>G p.D103G Substitution - Missense 3:42685926-42685926 + PT19_1 COSM5899438 c.187C>G p.L63V Substitution - Missense 3:42685805-42685805 + MO_1128 COSM1044759 c.1137C>T p.S379S Substitution - coding silent 3:42686755-42686755 + C008 COSM5522937 c.1025C>T p.S342F Substitution - Missense 3:42686643-42686643 + C99 COSM4620456 c.750G>A p.L250L Substitution - coding silent 3:42686368-42686368 + CHC1753T COSM4952530 c.1415G>C p.S472T Substitution - Missense 3:42688711-42688711 + 2492702 COSM5599741 c.1455C>T p.P485P Substitution - coding silent 3:42688902-42688902 + HCC28T COSM1617593 c.616G>A p.D206N Substitution - Missense 3:42686234-42686234 + SJBALL021305_D1 COSM4994047 c.24G>A p.A8A Substitution - coding silent 3:42685642-42685642 + PD18024a COSM5777312 c.1621G>A p.E541K Substitution - Missense 3:42690872-42690872 + TCGA-CF-A3MG-01 COSM1309126 c.679C>T p.R227C Substitution - Missense 3:42686297-42686297 + Pat_76_A COSM5864532 c.127G>A p.E43K Substitution - Missense 3:42685745-42685745 + CSCC-27-T COSM4489529 c.348C>T p.I116I Substitution - coding silent 3:42685966-42685966 + LUAD-LC15C COSM341937 c.299G>A p.S100N Substitution - Missense 3:42685917-42685917 + TCGA-BR-8591-01 COSM4117634 c.126C>T p.R42R Substitution - coding silent 3:42685744-42685744 + ESO-179 COSM1255209 c.364delT p.S122fs*77 Deletion - Frameshift 3:42685982-42685982 + 587332 COSM1211379 c.658G>A p.V220I Substitution - Missense 3:42686276-42686276 + TCGA-63-5131-01 COSM730844 c.855G>A p.K285K Substitution - coding silent 3:42686473-42686473 + 587304 COSM1211377 c.1205G>A p.R402H Substitution - Missense 3:42688194-42688194 + TCGA-FS-A1Z4-06 COSM3594066 c.912G>A p.G304G Substitution - coding silent 3:42686530-42686530 + BD231T COSM5496829 c.327delC p.R110fs*89 Deletion - Frameshift 3:42685945-42685945 + T3724 COSM4694123 c.1800C>G p.I600M Substitution - Missense 3:42691927-42691927 + 587224 COSM1211378 c.613G>A p.G205S Substitution - Missense 3:42686231-42686231 + 2492721 COSM5719999 c.1710G>A p.T570T Substitution - coding silent 3:42690961-42690961 + TCGA-BS-A0UF-01 COSM1044762 c.1261G>T p.E421* Substitution - Nonsense 3:42688250-42688250 + TCGA-D3-A2JF-06 COSM3594071 c.1663C>T p.L555L Substitution - coding silent 3:42690914-42690914 + TCGA-AN-A0XU-01 COSM446516 c.1831G>T p.V611L Substitution - Missense 3:42691958-42691958 + 3206A7_009_T COSM5043449 c.1246G>T p.V416L Substitution - Missense 3:42688235-42688235 + Pat_60_A COSM5864533 c.892G>A p.A298T Substitution - Missense 3:42686510-42686510 + HCC28 COSM1617593 c.616G>A p.D206N Substitution - Missense 3:42686234-42686234 + TCGA-D8-A3Z6-01 COSM3823882 c.1557C>T p.T519T Substitution - coding silent 3:42689004-42689004 + S00838 COSM5661629 c.810G>A p.K270K Substitution - coding silent 3:42686428-42686428 + TCGA-D3-A1Q6-06 COSM3594063 c.238G>A p.D80N Substitution - Missense 3:42685856-42685856 + TCGA-D1-A103-01 COSM1044759 c.1137C>T p.S379S Substitution - coding silent 3:42686755-42686755 + TCGA-A5-A0VP-01 COSM1044753 c.638G>A p.R213H Substitution - Missense 3:42686256-42686256 + HCT116 COSM4632338 c.45G>A p.Q15Q Substitution - coding silent 3:42685663-42685663 + pfg043T COSM4753767 c.1817C>T p.A606V Substitution - Missense 3:42691944-42691944 + LIM1899 COSM4640527 c.1276G>A p.E426K Substitution - Missense 3:42688265-42688265 + M002-Tonsil COSM1738826 c.606G>A p.A202A Substitution - coding silent 3:42686224-42686224 + PT16_1 COSM5898208 c.1813G>A p.G605S Substitution - Missense 3:42691940-42691940 + Pat_65_A COSM5864535 c.1396G>A p.V466I Substitution - Missense 3:42688692-42688692 + CSCC-11-T COSM2988505 c.1422G>A p.R474R Substitution - coding silent 3:42688869-42688869 + TCGA-EO-A1Y8-01 COSM1044748 c.157G>T p.A53S Substitution - Missense 3:42685775-42685775 + C086 COSM5532996 c.294G>A p.E98E Substitution - coding silent 3:42685912-42685912 + TCGA-EE-A20B-06 COSM3594073 c.1755G>A p.R585R Substitution - coding silent 3:42691882-42691882 + 8066497 COSM2988478 c.535G>A p.A179T Substitution - Missense 3:42686153-42686153 + BD189T COSM5508295 c.971G>C p.S324T Substitution - Missense 3:42686589-42686589 + T578 COSM4694118 c.329G>A p.R110H Substitution - Missense 3:42685947-42685947 + TCGA-BT-A0YX-01 COSM420006 c.1525G>A p.D509N Substitution - Missense 3:42688972-42688972 + TCGA-CG-4305-01 COSM4117639 c.943T>C p.F315L Substitution - Missense 3:42686561-42686561 + TCGA-D1-A167-01 COSM1044761 c.1173G>A p.E391E Substitution - coding silent 3:42688162-42688162 + CSCC-44-T COSM4465304 c.1376C>T p.S459F Substitution - Missense 3:42688672-42688672 + TCGA-EB-A44O-01 COSM2988501 c.1306G>A p.D436N Substitution - Missense 3:42688295-42688295 + TCGA-AA-3833-01 COSM271327 c.978G>T p.E326D Substitution - Missense 3:42686596-42686596 + CHC1738T COSM1211377 c.1205G>A p.R402H Substitution - Missense 3:42688194-42688194 + TCGA-04-1652-01 COSM1328226 c.1204C>T p.R402C Substitution - Missense 3:42688193-42688193 + TCGA-CM-6162-01 COSM1423132 c.1404C>T p.G468G Substitution - coding silent 3:42688700-42688700 + TCGA-29-1693-01 COSM1328227 c.880G>T p.E294* Substitution - Nonsense 3:42686498-42686498 + TCGA-AK-3434-01 COSM3365181 c.310T>A p.L104M Substitution - Missense 3:42685928-42685928 + sysucc-1317T COSM5449872 c.693C>T p.R231R Substitution - coding silent 3:42686311-42686311 + ESCC-116T COSM1044756 c.806G>A p.R269Q Substitution - Missense 3:42686424-42686424 + 80 COSM5011091 c.680G>A p.R227H Substitution - Missense 3:42686298-42686298 + CSCC-31-T COSM4527573 c.1474G>A p.E492K Substitution - Missense 3:42688921-42688921 + TCGA-CK-4950-01 COSM1423126 c.51G>A p.T17T Substitution - coding silent 3:42685669-42685669 + cSCCP2 COSM137382 c.295G>A p.A99T Substitution - Missense 3:42685913-42685913 + EGC3 COSM5059734 c.719G>A p.R240H Substitution - Missense 3:42686337-42686337 + GHE0988 COSM2988486 c.755G>A p.R252H Substitution - Missense 3:42686373-42686373 + TCGA-CJ-5686-01 COSM480090 c.1026C>A p.S342S Substitution - coding silent 3:42686644-42686644 + TCGA-FW-A3R5-06 COSM3916050 c.1210C>T p.L404F Substitution - Missense 3:42688199-42688199 + LUAD-NYU508 COSM374812 c.1397T>C p.V466A Substitution - Missense 3:42688693-42688693 + TCGA-BS-A0UF-01 COSM1044764 c.1418A>G p.D473G Substitution - Missense 3:42688714-42688714 + TCGA-BJ-A0Z3-01 COSM3373182 c.467T>A p.I156N Substitution - Missense 3:42686085-42686085 + CSCC-32-T COSM1495586 c.1473G>A p.K491K Substitution - coding silent 3:42688920-42688920 + TCGA-B5-A0JY-01 COSM1044749 c.179C>T p.A60V Substitution - Missense 3:42685797-42685797 + TCGA-66-2756-01 COSM730842 c.1063G>T p.V355F Substitution - Missense 3:42686681-42686681 + pfg108T COSM4753765 c.646G>T p.A216S Substitution - Missense 3:42686264-42686264 + 2492722 COSM5719999 c.1710G>A p.T570T Substitution - coding silent 3:42690961-42690961 + TCGA-AA-3663-01 COSM3696087 c.208G>A p.G70S Substitution - Missense 3:42685826-42685826 + CRC-06T COSM583847 c.1531C>T p.R511C Substitution - Missense 3:42688978-42688978 + YUJUBE COSM5399358 c.520G>A p.A174T Substitution - Missense 3:42686138-42686138 + sysucc-1370T COSM4117640 c.1499G>A p.R500H Substitution - Missense 3:42688946-42688946 + pfg068T COSM1738927 c.1274G>A p.G425D Substitution - Missense 3:42688263-42688263 + TCGA-A4-7734-01 COSM3993075 c.21G>A p.Q7Q Substitution - coding silent 3:42685639-42685639 + TCGA-EE-A2MR-06 COSM3594063 c.238G>A p.D80N Substitution - Missense 3:42685856-42685856 + TCGA-06-0649-01 COSM2151514 c.1239C>T p.S413S Substitution - coding silent 3:42688228-42688228 + T41 COSM1211377 c.1205G>A p.R402H Substitution - Missense 3:42688194-42688194 + CHC1753T COSM4952530 c.1415G>C p.S472T Substitution - Missense 3:42688711-42688711 + ESCC_BICR_045T COSM5441723 c.321G>A p.A107A Substitution - coding silent 3:42685939-42685939 + Pat_37_B COSM5864534 c.1252G>A p.G418S Substitution - Missense 3:42688241-42688241 + TCGA-FS-A1ZP-06 COSM3916049 c.1111G>A p.E371K Substitution - Missense 3:42686729-42686729 + T3021 COSM4694119 c.919A>G p.N307D Substitution - Missense 3:42686537-42686537 + TCGA-B5-A0K9-01 COSM1044756 c.806G>A p.R269Q Substitution - Missense 3:42686424-42686424 + HCC087T COSM5818292 c.574G>A p.E192K Substitution - Missense 3:42686192-42686192 + TCGA-60-2708-01 COSM730839 c.1304A>G p.Y435C Substitution - Missense 3:42688293-42688293 + TCGA-09-2050-01 COSM71246 c.312G>T p.L104F Substitution - Missense 3:42685930-42685930 + TCGA-BT-A2LD-01 COSM1309127 c.1640G>A p.R547H Substitution - Missense 3:42690891-42690891 + MDS-07 COSM210984 c.1616C>T p.P539L Substitution - Missense 3:42690867-42690867 + SC_9049 COSM5551178 c.1209C>G p.C403W Substitution - Missense 3:42688198-42688198 + TCGA-HU-A4H3-01 COSM4117637 c.618C>T p.D206D Substitution - coding silent 3:42686236-42686236 + T3024 COSM1423130 c.445G>A p.A149T Substitution - Missense 3:42686063-42686063 + TCGA-D1-A177-01 COSM1044752 c.627G>A p.A209A Substitution - coding silent 3:42686245-42686245 + 202_T COSM3945475 c.1301G>T p.C434F Substitution - Missense 3:42688290-42688290 + I2L-P19Ta-Tumor-Biopsy COSM5355185 c.1087G>A p.V363M Substitution - Missense 3:42686705-42686705 + TCGA-BR-8680-01 COSM4117640 c.1499G>A p.R500H Substitution - Missense 3:42688946-42688946 + PTC_285 COSM5958986 c.723delC p.P242fs*16 Deletion - Frameshift 3:42686341-42686341 + TCGA-AP-A059-01 COSM1044757 c.854A>C p.K285T Substitution - Missense 3:42686472-42686472 + TCGA-A6-5661-01 COSM1423131 c.733C>T p.R245C Substitution - Missense 3:42686351-42686351 + ASHPC_0029_Pa_P COSM3781816 c.1008C>T p.N336N Substitution - coding silent 3:42686626-42686626 + TCGA-EB-A41B-01 COSM3594065 c.829G>A p.G277R Substitution - Missense 3:42686447-42686447 + YUOTHO COSM5399359 c.1334C>T p.S445L Substitution - Missense 3:42688630-42688630 + CSCC-38-T COSM4470330 c.1654C>T p.L552L Substitution - coding silent 3:42690905-42690905 + TCGA-EE-A2GJ-06 COSM3594074 c.1823T>G p.F608C Substitution - Missense 3:42691950-42691950 + TCGA-CG-5724-01 COSM4117641 c.1761C>T p.N587N Substitution - coding silent 3:42691888-42691888 + YUKAT COSM5399361 c.1833G>A p.V611V Substitution - coding silent 3:42691960-42691960 + 2492723 COSM5719999 c.1710G>A p.T570T Substitution - coding silent 3:42690961-42690961 + S0033 COSM5883828 c.178G>A p.A60T Substitution - Missense 3:42685796-42685796 + TCGA-39-5031-01 COSM730838 c.1587G>T p.V529V Substitution - coding silent 3:42689034-42689034 + LUAD-S01356 COSM398233 c.226G>T p.E76* Substitution - Nonsense 3:42685844-42685844 + HCA7 COSM4630865 c.320C>T p.A107V Substitution - Missense 3:42685938-42685938 + 2492720 COSM5719999 c.1710G>A p.T570T Substitution - coding silent 3:42690961-42690961 + TCGA-34-5239-01 COSM730841 c.1080G>A p.Q360Q Substitution - coding silent 3:42686698-42686698 + PDA_011 COSM1328228 c.664G>A p.E222K Substitution - Missense 3:42686282-42686282 + T3306 COSM4694117 c.199G>C p.E67Q Substitution - Missense 3:42685817-42685817 + 12924 COSM5615273 c.430G>T p.D144Y Substitution - Missense 3:42686048-42686048 + TCGA-BR-8369-01 COSM1044756 c.806G>A p.R269Q Substitution - Missense 3:42686424-42686424 + P03-1426 COSM245131 c.322G>A p.A108T Substitution - Missense 3:42685940-42685940 + 8_tFL COSM4171234 c.458G>A p.R153H Substitution - Missense 3:42686076-42686076 + ESO-184 COSM1255211 c.1687G>T p.G563C Substitution - Missense 3:42690938-42690938 + T2932 COSM2988493 c.932G>A p.R311H Substitution - Missense 3:42686550-42686550 + RPMI-8226 COSM1683918 c.1768_1770delGAG p.E590delE Deletion - In frame 3:42691895-42691897 + MO_1008 COSM5573871 c.69_70insA p.D25fs*74 Insertion - Frameshift 3:42685687-42685688 + BN04T COSM1617594 c.769G>A p.V257M Substitution - Missense 3:42686387-42686387 + T3094 COSM4694120 c.931C>T p.R311C Substitution - Missense 3:42686549-42686549 + TCGA-B7-5818-01 COSM4117635 c.212A>G p.E71G Substitution - Missense 3:42685830-42685830 + ASHPC_0011_Pa_P COSM3781815 c.637C>T p.R213C Substitution - Missense 3:42686255-42686255 + B59-0-Tumor COSM4005543 c.1184T>G p.M395R Substitution - Missense 3:42688173-42688173 + QGP1 COSM2988472 c.433T>C p.C145R Substitution - Missense 3:42686051-42686051 + I2L-P19Ta-Tumor-Organoid COSM5355185 c.1087G>A p.V363M Substitution - Missense 3:42686705-42686705 + Pat_60_B COSM5864533 c.892G>A p.A298T Substitution - Missense 3:42686510-42686510 + TCGA-B5-A0JY-01 COSM1044750 c.282C>T p.I94I Substitution - coding silent 3:42685900-42685900 + TCGA-AP-A051-01 COSM1044763 c.1371G>A p.V457V Substitution - coding silent 3:42688667-42688667 + TCGA-43-2578-01 COSM730843 c.939C>G p.G313G Substitution - coding silent 3:42686557-42686557 + TCGA-AZ-6598-01 COSM1423130 c.445G>A p.A149T Substitution - Missense 3:42686063-42686063 + Au2 COSM5599741 c.1455C>T p.P485P Substitution - coding silent 3:42688902-42688902 + TCGA-D1-A103-01 COSM1044754 c.674G>A p.R225H Substitution - Missense 3:42686292-42686292 + 3206A7_017_T COSM5011091 c.680G>A p.R227H Substitution - Missense 3:42686298-42686298 + TCGA-FP-A4BE-01 COSM4117636 c.406G>A p.V136I Substitution - Missense 3:42686024-42686024 + BN04 COSM1617594 c.769G>A p.V257M Substitution - Missense 3:42686387-42686387 + TCGA-AP-A0LM-01 COSM1044766 c.1657G>A p.V553I Substitution - Missense 3:42690908-42690908 + HN_62814 COSM123839 c.496G>A p.D166N Substitution - Missense 3:42686114-42686114 + 2492703 COSM5599741 c.1455C>T p.P485P Substitution - coding silent 3:42688902-42688902 + CHC1738T COSM1211377 c.1205G>A p.R402H Substitution - Missense 3:42688194-42688194 + TCGA-EB-A41A-01 COSM3594069 c.1506C>T p.L502L Substitution - coding silent 3:42688953-42688953 + TCGA-DA-A1IC-06 COSM2988477 c.523G>A p.D175N Substitution - Missense 3:42686141-42686141 + TCGA-FD-A3SO-01 COSM3775026 c.144C>T p.R48R Substitution - coding silent 3:42685762-42685762 + HCT15 COSM4632929 c.55C>A p.L19M Substitution - Missense 3:42685673-42685673 + TCGA-63-5131-01 COSM730840 c.1262A>T p.E421V Substitution - Missense 3:42688251-42688251 + J76_T COSM3945474 c.963C>G p.F321L Substitution - Missense 3:42686581-42686581 + ML_103_T_01 COSM5033888 c.609T>G p.G203G Substitution - coding silent 3:42686227-42686227 + YUOMEGA COSM5399360 c.1643G>A p.S548N Substitution - Missense 3:42690894-42690894 + SC_9083 COSM5546871 c.952_965del14 p.L319fs*2 Deletion - Frameshift 3:42686570-42686583 + ESCC_164 COSM5648316 c.765G>C p.Q255H Substitution - Missense 3:42686383-42686383 + 134398 COSM325579 c.1088T>C p.V363A Substitution - Missense 3:42686706-42686706 + LIM2551 COSM1211379 c.658G>A p.V220I Substitution - Missense 3:42686276-42686276 + GC8_T COSM149365 c.1034A>G p.N345S Substitution - Missense 3:42686652-42686652 + TCGA-G4-6628-01 COSM1423129 c.404C>T p.A135V Substitution - Missense 3:42686022-42686022 + CRC-33T COSM1255210 c.525C>T p.D175D Substitution - coding silent 3:42686143-42686143 + TCGA-BS-A0TJ-01 COSM1044765 c.1495G>A p.A499T Substitution - Missense 3:42688942-42688942 + SJDES014-R2 COSM374812 c.1397T>C p.V466A Substitution - Missense 3:42688693-42688693 + TCGA-FW-A3TU-06 COSM3594070 c.1522C>T p.H508Y Substitution - Missense 3:42688969-42688969 + 2492700 COSM5599741 c.1455C>T p.P485P Substitution - coding silent 3:42688902-42688902 + 2296_T COSM3945476 c.1718G>C p.G573A Substitution - Missense 3:42690969-42690969 + ESO-0133 COSM1255210 c.525C>T p.D175D Substitution - coding silent 3:42686143-42686143 + T2269 COSM4694121 c.1245C>T p.Y415Y Substitution - coding silent 3:42688234-42688234 + GC8_T COSM149366 c.1801G>A p.A601T Substitution - Missense 3:42691928-42691928 + TCGA-B5-A0JY-01 COSM1044758 c.936C>T p.F312F Substitution - coding silent 3:42686554-42686554 + ZZUFHECRKL-G033T COSM1738826 c.606G>A p.A202A Substitution - coding silent 3:42686224-42686224 + OSCC-GB_01180111 COSM5954609 c.518C>T p.S173L Substitution - Missense 3:42686136-42686136 + PD4118a COSM161836 c.448G>A p.V150M Substitution - Missense 3:42686066-42686066 + OSCC-GB_00800111 COSM4887870 c.499G>T p.A167S Substitution - Missense 3:42686117-42686117 + TCGA-FW-A3R5-06 COSM3916051 c.1629C>T p.F543F Substitution - coding silent 3:42690880-42690880 + Z138 COSM1738927 c.1274G>A p.G425D Substitution - Missense 3:42688263-42688263 + T3301 COSM4694122 c.1378C>A p.H460N Substitution - Missense 3:42688674-42688674 + TCGA-FW-A3R5-06 COSM3916048 c.1101C>T p.L367L Substitution - coding silent 3:42686719-42686719 + TCGA-A5-A0VO-01 COSM1044755 c.710G>A p.R237H Substitution - Missense 3:42686328-42686328 + TCGA-23-1029-01 COSM1328228 c.664G>A p.E222K Substitution - Missense 3:42686282-42686282 + TCGA-B5-A0JY-01 COSM1044751 c.585C>T p.F195F Substitution - coding silent 3:42686203-42686203 + ccRCC-39 COSM1662354 c.797C>G p.T266S Substitution - Missense 3:42686415-42686415 + TCGA-06-0649 COSM2151514 c.1239C>T p.S413S Substitution - coding silent 3:42688228-42688228 + 13542 COSM730839 c.1304A>G p.Y435C Substitution - Missense 3:42688293-42688293 + T13 COSM149365 c.1034A>G p.N345S Substitution - Missense 3:42686652-42686652 + OSCC-GB_00560111 COSM4883719 c.82G>T p.D28Y Substitution - Missense 3:42685700-42685700 + TCGA-BR-4368-01 COSM4117638 c.711C>T p.R237R Substitution - coding silent 3:42686329-42686329 + TCGA-DM-A28M-01 COSM3696088 c.1661G>T p.S554I Substitution - Missense 3:42690912-42690912 + CSCC-35-T COSM4446349 c.1421+3G>A p.? Unknown 3:42688720-42688720 + LUAD-B01811 COSM334537 c.1502C>T p.S501L Substitution - Missense 3:42688949-42688949 + MO_1215 COSM5573061 c.1153-2A>C p.? Unknown 3:42688140-42688140 + ESO-859 COSM1239185 c.776A>G p.D259G Substitution - Missense 3:42686394-42686394 + TCGA-FS-A1ZU-06 COSM3594067 c.981C>T p.G327G Substitution - coding silent 3:42686599-42686599 + PDA_074 COSM149365 c.1034A>G p.N345S Substitution - Missense 3:42686652-42686652 + TCGA-A3-3374-01 COSM1495586 c.1473G>A p.K491K Substitution - coding silent 3:42688920-42688920 + REC-1 COSM1738948 c.349T>C p.F117L Substitution - Missense 3:42685967-42685967 + TCGA-ER-A2NC-06 COSM3594072 c.1675C>T p.L559F Substitution - Missense 3:42690926-42690926 + CSCC-49-T COSM4465319 c.1377C>T p.S459S Substitution - coding silent 3:42688673-42688673 + MO_1118 COSM5547834 c.1751_1754+13del17 p.? Unknown 3:42691002-42691018 + TCGA-EE-A2MR-06 COSM3594068 c.1181G>A p.G394E Substitution - Missense 3:42688170-42688170 + 2492701 COSM5599741 c.1455C>T p.P485P Substitution - coding silent 3:42688902-42688902 + PTC-7C COSM149365 c.1034A>G p.N345S Substitution - Missense 3:42686652-42686652 + TCGA-EB-A4IS-01 COSM3594064 c.341C>T p.P114L Substitution - Missense 3:42685959-42685959 + TCGA-CI-6622-01 COSM1566770 c.1110C>T p.N370N Substitution - coding silent 3:42686728-42686728 + TCGA-AP-A0LM-01 COSM1044760 c.1146C>T p.F382F Substitution - coding silent 3:42686764-42686764 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.350288 3p22.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D259G c.776A>G 3 42727886 ESCA A G Missense p.E71G c.212A>G 3 42727322 STAD A G Missense p.Y435C c.1304A>G 3 42729785 LUSC A G Missense p.Y435C c.1304A>G 3 42729785 NSCLC A T Missense p.E421V c.1262A>T 3 42729743 LUSC CC TT Synonymous p.(=) c.1284_1285delinsTT 3 42729765 CM C G Synonymous p.G313G c.939C>G 3 42728049 LUSC C G Synonymous p.T498T c.1494C>G 3 42730433 ALL C T Missense p.L559F c.1675C>T 3 42732418 CM C T Missense p.R227C c.679C>T 3 42727789 BLCA C T Missense p.R511C c.1531C>T 3 42730470 LUAD C T Missense p.S78F c.233C>T 3 42727343 CM C T Synonymous p.D175D c.525C>T 3 42727635 ESCA C T Synonymous p.G327G c.981C>T 3 42728091 CM C T Synonymous p.L139L c.417C>T 3 42727527 HNSC C T Synonymous p.L555L c.1663C>T 3 42732406 CM C T Synonymous p.N587N c.1761C>T 3 42733380 STAD C T Synonymous p.R237R c.711C>T 3 42727821 STAD C T Synonymous p.S413S c.1239C>T 3 42729720 GBM G A Missense p.D166N c.496G>A 3 42727606 HNSC G A Missense p.D175N c.523G>A 3 42727633 CM G A Missense p.D509N c.1525G>A 3 42730464 BLCA G A Missense p.D80N c.238G>A 3 42727348 CM G A Missense p.E371K c.1111G>A 3 42728221 CM G A Missense p.G469S c.1405G>A 3 42730193 BRCA G A Missense p.R213H c.638G>A 3 42727748 UCEC G A Missense p.R237H c.710G>A 3 42727820 UCEC G A Missense p.R269Q c.806G>A 3 42727916 UCEC G A Missense p.R547H c.1640G>A 3 42732383 BLCA G A Missense p.V150M c.448G>A 3 42727558 BRCA G A Synonymous p.A209A c.627G>A 3 42727737 UCEC G A Synonymous p.G304G c.912G>A 3 42728022 CM G A Synonymous p.K285K c.855G>A 3 42727965 LUSC G A Synonymous p.Q360Q c.1080G>A 3 42728190 LUSC G A Synonymous p.R585R c.1755G>A 3 42733374 CM G T Missense p.A53S c.157G>T 3 42727267 UCEC G T Missense p.D144Y c.430G>T 3 42727540 NSCLC G T Missense p.G263V c.788G>T 3 42727898 LUAD G T Missense p.G563C c.1687G>T 3 42732430 ESCA G T Missense p.L104F c.312G>T 3 42727422 OV G T Missense p.V355F c.1063G>T 3 42728173 LUSC G T Missense p.V611L c.1831G>T 3 42733450 BRCA G T Synonymous p.V529V c.1587G>T 3 42730526 LUSC T A Missense p.I156N c.467T>A 3 42727577 THCA T A Missense p.L104M c.310T>A 3 42727420 RCCC T C 3-UTRSNV . c.1863+447T>C 3 42733929 HC T C Missense p.F315L c.943T>C 3 42728053 STAD T C Missense p.V363A c.1088T>C 3 42728198 SCLC T C Missense p.V596A c.1787T>C 3 42733406 LUAD T - Frameshift p.S122Pfs*77 c.364delT 3 42727474 ESCA T G Missense p.F608C c.1823T>G 3 42733442 CM