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 5 141025388 141025388 + Missense_Mutation SNP C C G TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr5:141025388C>G c.1261G>C c.(1261-1263)Gag>Cag p.E421Q BLCA 5 141027612 141027612 + Missense_Mutation SNP C C T TCGA-GU-AATP-01A-11D-A391-08 TCGA-GU-AATP-10A-01D-A394-08 g.chr5:141027612C>T c.628G>A c.(628-630)Gag>Aag p.E210K BLCA 5 141028579 141028579 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr5:141028579C>T c.521G>A c.(520-522)cGa>cAa p.R174Q BRCA 5 141024448 141024448 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:141024448C>T c.1502G>A c.(1501-1503)gGa>gAa p.G501E BRCA 5 141025453 141025453 + Missense_Mutation SNP G G A TCGA-GI-A2C9-01A-11D-A21Q-09 TCGA-GI-A2C9-11A-22D-A21Q-09 g.chr5:141025453G>A c.1196C>T c.(1195-1197)gCt>gTt p.A399V BRCA 5 141025748 141025748 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr5:141025748C>T c.1055G>A c.(1054-1056)cGa>cAa p.R352Q BRCA 5 141025749 141025749 + Nonsense_Mutation SNP G G A TCGA-A8-A06X-01A-21W-A019-09 TCGA-A8-A06X-10A-01W-A021-09 g.chr5:141025749G>A c.1054C>T c.(1054-1056)Cga>Tga p.R352* BRCA 5 141026716 141026716 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr5:141026716C>A c.910G>T c.(910-912)Gca>Tca p.A304S BRCA 5 141029054 141029054 + Missense_Mutation SNP C C A TCGA-D8-A27H-01A-11D-A16D-09 TCGA-D8-A27H-10A-01D-A16D-09 g.chr5:141029054C>A c.283G>T c.(283-285)Gct>Tct p.A95S CESC 5 141023934 141023934 + Missense_Mutation SNP G G C TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr5:141023934G>C c.1714C>G c.(1714-1716)Ctc>Gtc p.L572V CESC 5 141024239 141024239 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr5:141024239C>T c.1543G>A c.(1543-1545)Gag>Aag p.E515K CESC 5 141024446 141024446 + Missense_Mutation SNP C C T TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr5:141024446C>T c.1504G>A c.(1504-1506)Gat>Aat p.D502N COAD 5 141021127 141021127 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:141021127G>A c.2011C>T c.(2011-2013)Cgt>Tgt p.R671C COAD 5 141023915 141023915 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr5:141023915C>T c.1733G>A c.(1732-1734)cGg>cAg p.R578Q COAD 5 141024253 141024253 + Missense_Mutation SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr5:141024253C>T c.1529G>A c.(1528-1530)cGg>cAg p.R510Q COAD 5 141024437 141024437 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:141024437C>T c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K COAD 5 141025721 141025721 + Missense_Mutation SNP G G A TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr5:141025721G>A c.1082C>T c.(1081-1083)tCa>tTa p.S361L COAD 5 141026179 141026179 + Silent SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:141026179A>G c.1035T>C c.(1033-1035)caT>caC p.H345H COAD 5 141026260 141026260 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:141026260G>A c.954C>T c.(952-954)ggC>ggT p.G318G COAD 5 141026774 141026775 + Frame_Shift_Ins INS - - T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr5:141026774_141026775insT c.851_852insA c.(850-852)aagfs p.K284fs COAD 5 141026985 141026985 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:141026985C>T c.808G>A c.(808-810)Ggg>Agg p.G270R COAD 5 141027073 141027073 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr5:141027073C>T c.720G>A c.(718-720)gaG>gaA p.E240E COAD 5 141027589 141027589 + Silent SNP A A C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:141027589A>C c.651T>G c.(649-651)gcT>gcG p.A217A COAD 5 141027617 141027617 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr5:141027617C>T c.623G>A c.(622-624)cGc>cAc p.R208H COAD 5 141027623 141027623 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr5:141027623G>A c.617C>T c.(616-618)gCa>gTa p.A206V COAD 5 141029014 141029014 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:141029014C>T c.323G>A c.(322-324)cGt>cAt p.R108H COAD 5 141029020 141029020 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr5:141029020C>T c.317G>A c.(316-318)cGa>cAa p.R106Q COADREAD 5 141021127 141021127 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr5:141021127G>A c.2011C>T c.(2011-2013)Cgt>Tgt p.R671C COADREAD 5 141023915 141023915 + Missense_Mutation SNP C C T TCGA-CM-6678-01A-11D-1835-10 TCGA-CM-6678-10A-01D-1835-10 g.chr5:141023915C>T c.1733G>A c.(1732-1734)cGg>cAg p.R578Q COADREAD 5 141024217 141024217 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:141024217C>T c.1565G>A c.(1564-1566)cGa>cAa p.R522Q COADREAD 5 141024253 141024253 + Missense_Mutation SNP C C T TCGA-D5-6923-01A-11D-1924-10 TCGA-D5-6923-10A-01D-1924-10 g.chr5:141024253C>T c.1529G>A c.(1528-1530)cGg>cAg p.R510Q COADREAD 5 141024437 141024437 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr5:141024437C>T c.1513G>A c.(1513-1515)Gaa>Aaa p.E505K COADREAD 5 141025721 141025721 + Missense_Mutation SNP G G A TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr5:141025721G>A c.1082C>T c.(1081-1083)tCa>tTa p.S361L COADREAD 5 141026179 141026179 + Silent SNP A A G TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr5:141026179A>G c.1035T>C c.(1033-1035)caT>caC p.H345H COADREAD 5 141026260 141026260 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr5:141026260G>A c.954C>T c.(952-954)ggC>ggT p.G318G COADREAD 5 141026774 141026775 + Frame_Shift_Ins INS - - T TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr5:141026774_141026775insT c.851_852insA c.(850-852)aagfs p.K284fs COADREAD 5 141026985 141026985 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr5:141026985C>T c.808G>A c.(808-810)Ggg>Agg p.G270R COADREAD 5 141027073 141027073 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr5:141027073C>T c.720G>A c.(718-720)gaG>gaA p.E240E COADREAD 5 141027589 141027589 + Silent SNP A A C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr5:141027589A>C c.651T>G c.(649-651)gcT>gcG p.A217A COADREAD 5 141027617 141027617 + Missense_Mutation SNP C C T TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr5:141027617C>T c.623G>A c.(622-624)cGc>cAc p.R208H COADREAD 5 141027623 141027623 + Missense_Mutation SNP G G A TCGA-AA-3697-01A-01D-1719-10 TCGA-AA-3697-11A-01D-1719-10 g.chr5:141027623G>A c.617C>T c.(616-618)gCa>gTa p.A206V COADREAD 5 141028814 141028814 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:141028814C>T c.437G>A c.(436-438)cGa>cAa p.R146Q COADREAD 5 141029014 141029014 + Missense_Mutation SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr5:141029014C>T c.323G>A c.(322-324)cGt>cAt p.R108H COADREAD 5 141029020 141029020 + Missense_Mutation SNP C C T TCGA-AA-3833-01A-01W-0900-09 TCGA-AA-3833-10A-01W-0900-09 g.chr5:141029020C>T c.317G>A c.(316-318)cGa>cAa p.R106Q COADREAD 5 141029952 141029952 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:141029952C>A c.139G>T c.(139-141)Gca>Tca p.A47S DLBC 5 141021108 141021108 + Missense_Mutation SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr5:141021108G>A c.2030C>T c.(2029-2031)cCg>cTg p.P677L DLBC 5 141026182 141026182 + Missense_Mutation SNP G G T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr5:141026182G>T c.1032C>A c.(1030-1032)aaC>aaA p.N344K DLBC 5 141030640 141030640 + Silent SNP C C T TCGA-G8-6909-01A-11D-2210-10 TCGA-G8-6909-14A-01D-2210-10 g.chr5:141030640C>T c.66G>A c.(64-66)ctG>ctA p.L22L ESCA 5 141024481 141024481 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr5:141024481G>A c.1469C>T c.(1468-1470)aCg>aTg p.T490M ESCA 5 141028581 141028581 + Silent SNP G G A TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr5:141028581G>A c.519C>T c.(517-519)aaC>aaT p.N173N GBM 5 141029038 141029038 + Missense_Mutation SNP C C T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr5:141029038C>T c.299G>A c.(298-300)cGa>cAa p.R100Q GBMLGG 5 141023973 141023973 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr5:141023973C>T c.1675G>A c.(1675-1677)Gga>Aga p.G559R GBMLGG 5 141028985 141028985 + Missense_Mutation SNP C C T TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr5:141028985C>T c.352G>A c.(352-354)Gcc>Acc p.A118T GBMLGG 5 141029038 141029038 + Missense_Mutation SNP C C T TCGA-06-0166-01A-01D-1491-08 TCGA-06-0166-10A-01D-1491-08 g.chr5:141029038C>T c.299G>A c.(298-300)cGa>cAa p.R100Q HNSC 5 141026991 141026991 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr5:141026991G>A c.802C>T c.(802-804)Cac>Tac p.H268Y KIPAN 5 141025713 141025713 + Nonsense_Mutation SNP C C A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr5:141025713C>A c.1090G>T c.(1090-1092)Gag>Tag p.E364* KIPAN 5 141027542 141027542 + Missense_Mutation SNP A A C TCGA-B0-4945-01A-01D-1421-08 TCGA-B0-4945-11A-01D-1421-08 g.chr5:141027542A>C c.698T>G c.(697-699)cTg>cGg p.L233R KIPAN 5 141028860 141028860 + Nonsense_Mutation SNP G G A TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr5:141028860G>A c.391C>T c.(391-393)Cag>Tag p.Q131* KIRC 5 141025713 141025713 + Nonsense_Mutation SNP C C A TCGA-A3-3357-01A-02D-1421-08 TCGA-A3-3357-11A-01D-1421-08 g.chr5:141025713C>A c.1090G>T c.(1090-1092)Gag>Tag p.E364* KIRC 5 141027542 141027542 + Missense_Mutation SNP A A C TCGA-B0-4945-01A-01D-1421-08 TCGA-B0-4945-11A-01D-1421-08 g.chr5:141027542A>C c.698T>G c.(697-699)cTg>cGg p.L233R KIRC 5 141028860 141028860 + Nonsense_Mutation SNP G G A TCGA-B0-5694-01A-11D-1534-10 TCGA-B0-5694-11A-01D-1534-10 g.chr5:141028860G>A c.391C>T c.(391-393)Cag>Tag p.Q131* LAML 5 141029103 141029103 + Splice_Site SNP C C T TCGA-AB-2810-03B-01W-0728-08 TCGA-AB-2810-11B-01W-0728-08 g.chr5:141029103C>T c.234G>A c.(232-234)agG>agA p.R78R LGG 5 141023973 141023973 + Missense_Mutation SNP C C T TCGA-HT-7687-01A-11D-2253-08 TCGA-HT-7687-10A-01D-2253-08 g.chr5:141023973C>T c.1675G>A c.(1675-1677)Gga>Aga p.G559R LGG 5 141028985 141028985 + Missense_Mutation SNP C C T TCGA-CS-6186-01A-12D-2024-08 TCGA-CS-6186-10A-01D-2024-08 g.chr5:141028985C>T c.352G>A c.(352-354)Gcc>Acc p.A118T LIHC 5 141021270 141021270 + Splice_Site SNP G G A TCGA-CC-A9FW-01A-11D-A36X-10 TCGA-CC-A9FW-10A-01D-A370-10 g.chr5:141021270G>A c.2006C>T c.(2005-2007)cCg>cTg p.P669L LIHC 5 141024179 141024179 + Missense_Mutation SNP T T C TCGA-BC-A3KF-01A-11D-A20W-10 TCGA-BC-A3KF-10A-01D-A20W-10 g.chr5:141024179T>C c.1603A>G c.(1603-1605)Agc>Ggc p.S535G LIHC 5 141027040 141027040 + Silent SNP G G C TCGA-ZP-A9CV-01A-11D-A382-10 TCGA-ZP-A9CV-10B-01D-A385-10 g.chr5:141027040G>C c.753C>G c.(751-753)tcC>tcG p.S251S LUAD 5 141021280 141021280 + Nonsense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr5:141021280G>A c.1996C>T c.(1996-1998)Cga>Tga p.R666* LUAD 5 141023943 141023943 + Missense_Mutation SNP C C T TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr5:141023943C>T c.1705G>A c.(1705-1707)Gag>Aag p.E569K LUAD 5 141028826 141028826 + Missense_Mutation SNP C C A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr5:141028826C>A c.425G>T c.(424-426)cGg>cTg p.R142L LUAD 5 141028864 141028864 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr5:141028864G>T c.387C>A c.(385-387)aaC>aaA p.N129K LUAD 5 141030648 141030648 + Nonsense_Mutation SNP C C A TCGA-50-6673-01A-11D-1945-08 TCGA-50-6673-11A-02D-1945-08 g.chr5:141030648C>A c.58G>T c.(58-60)Gaa>Taa p.E20* LUSC 5 141023886 141023886 + Missense_Mutation SNP A A G TCGA-43-6143-01A-11D-1817-08 TCGA-43-6143-11A-01D-1817-08 g.chr5:141023886A>G c.1762T>C c.(1762-1764)Tgg>Cgg p.W588R LUSC 5 141026213 141026213 + Missense_Mutation SNP C C A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr5:141026213C>A c.1001G>T c.(1000-1002)aGc>aTc p.S334I LUSC 5 141029088 141029088 + Silent SNP G G A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr5:141029088G>A c.249C>T c.(247-249)ttC>ttT p.F83F OV 5 141026288 141026288 + Splice_Site SNP A A G TCGA-09-2044-01B-01W-0799-08 TCGA-09-2044-10A-01W-0799-08 g.chr5:141026288A>G c.926T>C c.(925-927)gTg>gCg p.V309A PRAD 5 141029928 141029928 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr5:141029928G>A c.163C>T c.(163-165)Cag>Tag p.Q55* READ 5 141024217 141024217 + Missense_Mutation SNP C C T TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr5:141024217C>T c.1565G>A c.(1564-1566)cGa>cAa p.R522Q READ 5 141028814 141028814 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:141028814C>T c.437G>A c.(436-438)cGa>cAa p.R146Q READ 5 141029952 141029952 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr5:141029952C>A c.139G>T c.(139-141)Gca>Tca p.A47S SARC 5 141025697 141025697 + Missense_Mutation SNP T T C TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 g.chr5:141025697T>C c.1106A>G c.(1105-1107)gAa>gGa p.E369G SKCM 5 141021112 141021112 + Missense_Mutation SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr5:141021112G>A c.2026C>T c.(2026-2028)Ccg>Tcg p.P676S SKCM 5 141023974 141023974 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr5:141023974G>A c.1674C>T c.(1672-1674)acC>acT p.T558T SKCM 5 141025397 141025397 + Missense_Mutation SNP C C T TCGA-D3-A2JD-06A-11D-A19A-08 TCGA-D3-A2JD-10A-01D-A19A-08 g.chr5:141025397C>T c.1252G>A c.(1252-1254)Gtg>Atg p.V418M SKCM 5 141027087 141027087 + Splice_Site SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr5:141027087C>T c.706G>A c.(706-708)Gcc>Acc p.A236T SKCM 5 141028539 141028539 + Silent SNP C C T TCGA-EE-A3AC-06A-11D-A196-08 TCGA-EE-A3AC-10A-01D-A198-08 g.chr5:141028539C>T c.561G>A c.(559-561)caG>caA p.Q187Q SKCM 5 141028737 141028737 + Splice_Site SNP A A G TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr5:141028737A>G c.e6+1 SKCM 5 141029033 141029033 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr5:141029033G>A c.304C>T c.(304-306)Cag>Tag p.Q102*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation AML-US 5 141025381 141025381 single base substitution C T downstream_gene_variant AML-US 5 141025381 141025381 single base substitution C T exon_variant AML-US 5 141025381 141025381 single base substitution C T missense_variant R106Q 317G>A AML-US 5 141025381 141025381 single base substitution C T missense_variant R347Q 1040G>A AML-US 5 141025381 141025381 single base substitution C T missense_variant R349Q 1046G>A AML-US 5 141025381 141025381 single base substitution C T missense_variant R423Q 1268G>A AML-US 5 141025381 141025381 single base substitution C T upstream_gene_variant BLCA-CN 5 141019775 141019775 single base substitution G A 3_prime_UTR_variant BLCA-CN 5 141019775 141019775 single base substitution G A downstream_gene_variant BLCA-CN 5 141019775 141019775 single base substitution G A exon_variant BLCA-CN 5 141019918 141019918 single base substitution G T 3_prime_UTR_variant BLCA-CN 5 141019918 141019918 single base substitution G T downstream_gene_variant BLCA-CN 5 141019918 141019918 single base substitution G T exon_variant BLCA-US 5 141025388 141025388 single base substitution C G downstream_gene_variant BLCA-US 5 141025388 141025388 single base substitution C G exon_variant BLCA-US 5 141025388 141025388 single base substitution C G missense_variant E104Q 310G>C BLCA-US 5 141025388 141025388 single base substitution C G missense_variant E345Q 1033G>C BLCA-US 5 141025388 141025388 single base substitution C G missense_variant E347Q 1039G>C BLCA-US 5 141025388 141025388 single base substitution C G missense_variant E421Q 1261G>C BLCA-US 5 141025388 141025388 single base substitution C G upstream_gene_variant BLCA-US 5 141033813 141033813 single base substitution G A upstream_gene_variant BLCA-US 5 141035204 141035204 single base substitution G A upstream_gene_variant BRCA-EU 5 141014878 141014878 single base substitution G A downstream_gene_variant BRCA-EU 5 141015870 141015870 single base substitution C A downstream_gene_variant BRCA-EU 5 141021733 141021733 single base substitution G C downstream_gene_variant BRCA-EU 5 141021733 141021733 single base substitution G C exon_variant BRCA-EU 5 141021733 141021733 single base substitution G C intron_variant BRCA-EU 5 141022356 141022356 single base substitution G A downstream_gene_variant BRCA-EU 5 141022356 141022356 single base substitution G A intron_variant BRCA-EU 5 141022356 141022356 single base substitution G A upstream_gene_variant BRCA-EU 5 141023285 141023285 single base substitution C T downstream_gene_variant BRCA-EU 5 141023285 141023285 single base substitution C T intron_variant BRCA-EU 5 141023285 141023285 single base substitution C T upstream_gene_variant BRCA-EU 5 141024400 141024400 single base substitution G T downstream_gene_variant BRCA-EU 5 141024400 141024400 single base substitution G T intron_variant BRCA-EU 5 141024400 141024400 single base substitution G T upstream_gene_variant BRCA-EU 5 141024604 141024604 single base substitution C T downstream_gene_variant BRCA-EU 5 141024604 141024604 single base substitution C T exon_variant BRCA-EU 5 141024604 141024604 single base substitution C T missense_variant V158M 472G>A BRCA-EU 5 141024604 141024604 single base substitution C T missense_variant V399M 1195G>A BRCA-EU 5 141024604 141024604 single base substitution C T missense_variant V401M 1201G>A BRCA-EU 5 141024604 141024604 single base substitution C T missense_variant V475M 1423G>A BRCA-EU 5 141024604 141024604 single base substitution C T upstream_gene_variant BRCA-EU 5 141024892 141024892 single base substitution G C downstream_gene_variant BRCA-EU 5 141024892 141024892 single base substitution G C intron_variant BRCA-EU 5 141024892 141024892 single base substitution G C upstream_gene_variant BRCA-EU 5 141025677 141025677 single base substitution G C downstream_gene_variant BRCA-EU 5 141025677 141025677 single base substitution G C exon_variant BRCA-EU 5 141025677 141025677 single base substitution G C intron_variant BRCA-EU 5 141025677 141025677 single base substitution G C missense_variant R300G 898C>G BRCA-EU 5 141025677 141025677 single base substitution G C missense_variant R376G 1126C>G BRCA-EU 5 141025677 141025677 single base substitution G C missense_variant R59G 175C>G BRCA-EU 5 141025677 141025677 single base substitution G C upstream_gene_variant BRCA-EU 5 141026538 141026538 deletion of <=200bp T - downstream_gene_variant BRCA-EU 5 141026538 141026538 deletion of <=200bp T - intron_variant BRCA-EU 5 141026538 141026538 deletion of <=200bp T - upstream_gene_variant BRCA-EU 5 141026986 141026986 single base substitution G A downstream_gene_variant BRCA-EU 5 141026986 141026986 single base substitution G A exon_variant BRCA-EU 5 141026986 141026986 single base substitution G A synonymous_variant R193R 579C>T BRCA-EU 5 141026986 141026986 single base substitution G A synonymous_variant R267R 801C>T BRCA-EU 5 141026986 141026986 single base substitution G A synonymous_variant R269R 807C>T BRCA-EU 5 141026986 141026986 single base substitution G A upstream_gene_variant BRCA-EU 5 141027648 141027648 single base substitution C A missense_variant A122S 364G>T BRCA-EU 5 141027648 141027648 single base substitution C A missense_variant A196S 586G>T BRCA-EU 5 141027648 141027648 single base substitution C A missense_variant A198S 592G>T BRCA-EU 5 141027648 141027648 single base substitution C A upstream_gene_variant BRCA-EU 5 141027935 141027935 single base substitution C T intron_variant BRCA-EU 5 141027935 141027935 single base substitution C T upstream_gene_variant BRCA-EU 5 141032792 141032792 single base substitution T G upstream_gene_variant BRCA-EU 5 141034492 141034492 single base substitution G C upstream_gene_variant BRCA-EU 5 141034725 141034725 single base substitution A T upstream_gene_variant BRCA-EU 5 141035178 141035178 single base substitution G C upstream_gene_variant BRCA-FR 5 141024400 141024400 single base substitution G T downstream_gene_variant BRCA-FR 5 141024400 141024400 single base substitution G T intron_variant BRCA-FR 5 141024400 141024400 single base substitution G T upstream_gene_variant BRCA-UK 5 141014878 141014878 single base substitution G A downstream_gene_variant BRCA-UK 5 141035787 141035787 single base substitution G A upstream_gene_variant BRCA-US 5 141017339 141017339 single base substitution A C downstream_gene_variant BRCA-US 5 141019316 141019316 single base substitution G T 3_prime_UTR_variant BRCA-US 5 141019316 141019316 single base substitution G T downstream_gene_variant BRCA-US 5 141019316 141019316 single base substitution G T exon_variant BRCA-US 5 141019879 141019879 single base substitution G A 3_prime_UTR_variant BRCA-US 5 141019879 141019879 single base substitution G A downstream_gene_variant BRCA-US 5 141019879 141019879 single base substitution G A exon_variant BRCA-US 5 141019951 141019951 single base substitution C T 3_prime_UTR_variant BRCA-US 5 141019951 141019951 single base substitution C T downstream_gene_variant BRCA-US 5 141019951 141019951 single base substitution C T exon_variant BRCA-US 5 141020961 141020961 single base substitution C T 3_prime_UTR_variant BRCA-US 5 141020961 141020961 single base substitution C T downstream_gene_variant BRCA-US 5 141020961 141020961 single base substitution C T exon_variant BRCA-US 5 141024448 141024448 single base substitution C T 3_prime_UTR_variant BRCA-US 5 141024448 141024448 single base substitution C T downstream_gene_variant BRCA-US 5 141024448 141024448 single base substitution C T exon_variant BRCA-US 5 141024448 141024448 single base substitution C T missense_variant G184E 551G>A BRCA-US 5 141024448 141024448 single base substitution C T missense_variant G427E 1280G>A BRCA-US 5 141024448 141024448 single base substitution C T missense_variant G501E 1502G>A BRCA-US 5 141024448 141024448 single base substitution C T upstream_gene_variant BRCA-US 5 141025453 141025453 single base substitution G A downstream_gene_variant BRCA-US 5 141025453 141025453 single base substitution G A exon_variant BRCA-US 5 141025453 141025453 single base substitution G A intron_variant BRCA-US 5 141025453 141025453 single base substitution G A missense_variant A323V 968C>T BRCA-US 5 141025453 141025453 single base substitution G A missense_variant A399V 1196C>T BRCA-US 5 141025453 141025453 single base substitution G A missense_variant A82V 245C>T BRCA-US 5 141025453 141025453 single base substitution G A upstream_gene_variant BRCA-US 5 141025748 141025748 single base substitution C T downstream_gene_variant BRCA-US 5 141025748 141025748 single base substitution C T exon_variant BRCA-US 5 141025748 141025748 single base substitution C T intron_variant BRCA-US 5 141025748 141025748 single base substitution C T missense_variant R276Q 827G>A BRCA-US 5 141025748 141025748 single base substitution C T missense_variant R352Q 1055G>A BRCA-US 5 141025748 141025748 single base substitution C T missense_variant R35Q 104G>A BRCA-US 5 141025748 141025748 single base substitution C T upstream_gene_variant BRCA-US 5 141025749 141025749 single base substitution G A downstream_gene_variant BRCA-US 5 141025749 141025749 single base substitution G A exon_variant BRCA-US 5 141025749 141025749 single base substitution G A intron_variant BRCA-US 5 141025749 141025749 single base substitution G A stop_gained R276* 826C>T BRCA-US 5 141025749 141025749 single base substitution G A stop_gained R35* 103C>T BRCA-US 5 141025749 141025749 single base substitution G A stop_gained R352* 1054C>T BRCA-US 5 141025749 141025749 single base substitution G A upstream_gene_variant BRCA-US 5 141026716 141026716 single base substitution C A downstream_gene_variant BRCA-US 5 141026716 141026716 single base substitution C A exon_variant BRCA-US 5 141026716 141026716 single base substitution C A missense_variant A228S 682G>T BRCA-US 5 141026716 141026716 single base substitution C A missense_variant A302S 904G>T BRCA-US 5 141026716 141026716 single base substitution C A missense_variant A304S 910G>T BRCA-US 5 141026716 141026716 single base substitution C A upstream_gene_variant BRCA-US 5 141029054 141029054 single base substitution C A missense_variant A19S 55G>T BRCA-US 5 141029054 141029054 single base substitution C A missense_variant A93S 277G>T BRCA-US 5 141029054 141029054 single base substitution C A missense_variant A95S 283G>T BRCA-US 5 141029054 141029054 single base substitution C A upstream_gene_variant BTCA-JP 5 141016185 141016185 single base substitution G A downstream_gene_variant BTCA-JP 5 141017783 141017783 single base substitution C A downstream_gene_variant BTCA-JP 5 141018454 141018454 single base substitution C G downstream_gene_variant BTCA-JP 5 141020188 141020188 single base substitution G A 3_prime_UTR_variant BTCA-JP 5 141020188 141020188 single base substitution G A downstream_gene_variant BTCA-JP 5 141020188 141020188 single base substitution G A exon_variant BTCA-JP 5 141022690 141022690 insertion of <=200bp - A downstream_gene_variant BTCA-JP 5 141022690 141022690 insertion of <=200bp - A intron_variant BTCA-JP 5 141022690 141022690 insertion of <=200bp - A upstream_gene_variant BTCA-JP 5 141024285 141024285 single base substitution T C downstream_gene_variant BTCA-JP 5 141024285 141024285 single base substitution T C intron_variant BTCA-JP 5 141024285 141024285 single base substitution T C upstream_gene_variant BTCA-JP 5 141027399 141027399 single base substitution T C downstream_gene_variant BTCA-JP 5 141027399 141027399 single base substitution T C intron_variant BTCA-JP 5 141027399 141027399 single base substitution T C upstream_gene_variant BTCA-JP 5 141028853 141028853 single base substitution G A missense_variant A131V 392C>T BTCA-JP 5 141028853 141028853 single base substitution G A missense_variant A133V 398C>T BTCA-JP 5 141028853 141028853 single base substitution G A missense_variant A57V 170C>T BTCA-JP 5 141028853 141028853 single base substitution G A upstream_gene_variant BTCA-JP 5 141028931 141028931 single base substitution C T intron_variant BTCA-JP 5 141028931 141028931 single base substitution C T upstream_gene_variant BTCA-JP 5 141029940 141029940 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 5 141029940 141029940 single base substitution G A missense_variant R51W 151C>T BTCA-JP 5 141029940 141029940 single base substitution G A upstream_gene_variant BTCA-JP 5 141033639 141033639 single base substitution T A upstream_gene_variant BTCA-JP 5 141035955 141035955 single base substitution G A upstream_gene_variant CESC-US 5 141017340 141017340 single base substitution G A downstream_gene_variant CESC-US 5 141017496 141017496 single base substitution G C downstream_gene_variant CESC-US 5 141018420 141018420 single base substitution G A downstream_gene_variant CESC-US 5 141019656 141019656 single base substitution G A 3_prime_UTR_variant CESC-US 5 141019656 141019656 single base substitution G A downstream_gene_variant CESC-US 5 141019656 141019656 single base substitution G A exon_variant CESC-US 5 141020662 141020662 single base substitution G C 3_prime_UTR_variant CESC-US 5 141020662 141020662 single base substitution G C downstream_gene_variant CESC-US 5 141020662 141020662 single base substitution G C exon_variant CESC-US 5 141021033 141021033 single base substitution A C 3_prime_UTR_variant CESC-US 5 141021033 141021033 single base substitution A C downstream_gene_variant CESC-US 5 141021033 141021033 single base substitution A C exon_variant CESC-US 5 141023934 141023934 single base substitution G C 3_prime_UTR_variant CESC-US 5 141023934 141023934 single base substitution G C downstream_gene_variant CESC-US 5 141023934 141023934 single base substitution G C exon_variant CESC-US 5 141023934 141023934 single base substitution G C missense_variant L498V 1492C>G CESC-US 5 141023934 141023934 single base substitution G C missense_variant L572V 1714C>G CESC-US 5 141023934 141023934 single base substitution G C upstream_gene_variant CESC-US 5 141024239 141024239 single base substitution C T 3_prime_UTR_variant CESC-US 5 141024239 141024239 single base substitution C T downstream_gene_variant CESC-US 5 141024239 141024239 single base substitution C T exon_variant CESC-US 5 141024239 141024239 single base substitution C T missense_variant E198K 592G>A CESC-US 5 141024239 141024239 single base substitution C T missense_variant E441K 1321G>A CESC-US 5 141024239 141024239 single base substitution C T missense_variant E515K 1543G>A CESC-US 5 141024239 141024239 single base substitution C T upstream_gene_variant CESC-US 5 141024446 141024446 single base substitution C T 3_prime_UTR_variant CESC-US 5 141024446 141024446 single base substitution C T downstream_gene_variant CESC-US 5 141024446 141024446 single base substitution C T exon_variant CESC-US 5 141024446 141024446 single base substitution C T missense_variant D185N 553G>A CESC-US 5 141024446 141024446 single base substitution C T missense_variant D428N 1282G>A CESC-US 5 141024446 141024446 single base substitution C T missense_variant D502N 1504G>A CESC-US 5 141024446 141024446 single base substitution C T upstream_gene_variant CESC-US 5 141033462 141033462 single base substitution G C upstream_gene_variant CESC-US 5 141033523 141033523 single base substitution G C upstream_gene_variant CESC-US 5 141035268 141035268 single base substitution G A upstream_gene_variant COAD-US 5 141014494 141014494 single base substitution T C downstream_gene_variant COAD-US 5 141018364 141018364 single base substitution G A downstream_gene_variant COAD-US 5 141019110 141019110 single base substitution C A 3_prime_UTR_variant COAD-US 5 141019110 141019110 single base substitution C A downstream_gene_variant COAD-US 5 141019110 141019110 single base substitution C A exon_variant COAD-US 5 141019155 141019155 single base substitution C T 3_prime_UTR_variant COAD-US 5 141019155 141019155 single base substitution C T downstream_gene_variant COAD-US 5 141019155 141019155 single base substitution C T exon_variant COAD-US 5 141019629 141019629 single base substitution A G 3_prime_UTR_variant COAD-US 5 141019629 141019629 single base substitution A G downstream_gene_variant COAD-US 5 141019629 141019629 single base substitution A G exon_variant COAD-US 5 141019731 141019731 single base substitution C T 3_prime_UTR_variant COAD-US 5 141019731 141019731 single base substitution C T downstream_gene_variant COAD-US 5 141019731 141019731 single base substitution C T exon_variant COAD-US 5 141023917 141023917 single base substitution G A 3_prime_UTR_variant COAD-US 5 141023917 141023917 single base substitution G A downstream_gene_variant COAD-US 5 141023917 141023917 single base substitution G A exon_variant COAD-US 5 141023917 141023917 single base substitution G A synonymous_variant P503P 1509C>T COAD-US 5 141023917 141023917 single base substitution G A synonymous_variant P577P 1731C>T COAD-US 5 141023917 141023917 single base substitution G A upstream_gene_variant COAD-US 5 141026260 141026260 single base substitution G A downstream_gene_variant COAD-US 5 141026260 141026260 single base substitution G A exon_variant COAD-US 5 141026260 141026260 single base substitution G A synonymous_variant G242G 726C>T COAD-US 5 141026260 141026260 single base substitution G A synonymous_variant G316G 948C>T COAD-US 5 141026260 141026260 single base substitution G A synonymous_variant G318G 954C>T COAD-US 5 141026260 141026260 single base substitution G A upstream_gene_variant COAD-US 5 141027073 141027073 single base substitution C T downstream_gene_variant COAD-US 5 141027073 141027073 single base substitution C T exon_variant COAD-US 5 141027073 141027073 single base substitution C T synonymous_variant E164E 492G>A COAD-US 5 141027073 141027073 single base substitution C T synonymous_variant E238E 714G>A COAD-US 5 141027073 141027073 single base substitution C T synonymous_variant E240E 720G>A COAD-US 5 141027073 141027073 single base substitution C T upstream_gene_variant COAD-US 5 141027589 141027589 single base substitution A C synonymous_variant A141A 423T>G COAD-US 5 141027589 141027589 single base substitution A C synonymous_variant A215A 645T>G COAD-US 5 141027589 141027589 single base substitution A C synonymous_variant A217A 651T>G COAD-US 5 141027589 141027589 single base substitution A C upstream_gene_variant COAD-US 5 141027617 141027617 single base substitution C T missense_variant R132H 395G>A COAD-US 5 141027617 141027617 single base substitution C T missense_variant R206H 617G>A COAD-US 5 141027617 141027617 single base substitution C T missense_variant R208H 623G>A COAD-US 5 141027617 141027617 single base substitution C T upstream_gene_variant COAD-US 5 141027623 141027623 single base substitution G A missense_variant A130V 389C>T COAD-US 5 141027623 141027623 single base substitution G A missense_variant A204V 611C>T COAD-US 5 141027623 141027623 single base substitution G A missense_variant A206V 617C>T COAD-US 5 141027623 141027623 single base substitution G A upstream_gene_variant COAD-US 5 141033720 141033720 single base substitution G A upstream_gene_variant COAD-US 5 141033742 141033742 insertion of <=200bp - G upstream_gene_variant COAD-US 5 141035306 141035306 single base substitution A G upstream_gene_variant COAD-US 5 141035786 141035786 single base substitution G A upstream_gene_variant COCA-CN 5 141016309 141016309 single base substitution G T downstream_gene_variant COCA-CN 5 141016373 141016373 single base substitution A G downstream_gene_variant COCA-CN 5 141018242 141018242 single base substitution A T downstream_gene_variant COCA-CN 5 141019388 141019388 single base substitution G T 3_prime_UTR_variant COCA-CN 5 141019388 141019388 single base substitution G T downstream_gene_variant COCA-CN 5 141019388 141019388 single base substitution G T exon_variant COCA-CN 5 141019984 141019984 single base substitution T G 3_prime_UTR_variant COCA-CN 5 141019984 141019984 single base substitution T G downstream_gene_variant COCA-CN 5 141019984 141019984 single base substitution T G exon_variant COCA-CN 5 141024351 141024351 single base substitution G T downstream_gene_variant COCA-CN 5 141024351 141024351 single base substitution G T intron_variant COCA-CN 5 141024351 141024351 single base substitution G T upstream_gene_variant COCA-CN 5 141027399 141027399 single base substitution T C downstream_gene_variant COCA-CN 5 141027399 141027399 single base substitution T C intron_variant COCA-CN 5 141027399 141027399 single base substitution T C upstream_gene_variant COCA-CN 5 141033923 141033923 single base substitution T C upstream_gene_variant COCA-CN 5 141034123 141034123 single base substitution T A upstream_gene_variant COCA-CN 5 141034827 141034827 single base substitution C A upstream_gene_variant COCA-CN 5 141035294 141035294 single base substitution C T upstream_gene_variant ESAD-UK 5 141014481 141014481 single base substitution G A downstream_gene_variant ESAD-UK 5 141017479 141017479 single base substitution C T downstream_gene_variant ESAD-UK 5 141017605 141017605 single base substitution A C downstream_gene_variant ESAD-UK 5 141020444 141020444 single base substitution C G 3_prime_UTR_variant ESAD-UK 5 141020444 141020444 single base substitution C G downstream_gene_variant ESAD-UK 5 141020444 141020444 single base substitution C G exon_variant ESAD-UK 5 141022317 141022317 single base substitution A T downstream_gene_variant ESAD-UK 5 141022317 141022317 single base substitution A T intron_variant ESAD-UK 5 141022317 141022317 single base substitution A T upstream_gene_variant ESAD-UK 5 141023827 141023827 single base substitution C A 3_prime_UTR_variant ESAD-UK 5 141023827 141023827 single base substitution C A downstream_gene_variant ESAD-UK 5 141023827 141023827 single base substitution C A exon_variant ESAD-UK 5 141023827 141023827 single base substitution C A synonymous_variant L533L 1599G>T ESAD-UK 5 141023827 141023827 single base substitution C A synonymous_variant L607L 1821G>T ESAD-UK 5 141023827 141023827 single base substitution C A upstream_gene_variant ESAD-UK 5 141027727 141027727 single base substitution G T intron_variant ESAD-UK 5 141027727 141027727 single base substitution G T upstream_gene_variant ESAD-UK 5 141032187 141032187 single base substitution C T upstream_gene_variant ESAD-UK 5 141033514 141033514 single base substitution G C upstream_gene_variant ESAD-UK 5 141034827 141034827 insertion of <=200bp - A upstream_gene_variant ESAD-UK 5 141034828 141034828 insertion of <=200bp - ACA upstream_gene_variant ESAD-UK 5 141035151 141035151 single base substitution G A upstream_gene_variant ESCA-CN 5 141017939 141017939 single base substitution G C downstream_gene_variant ESCA-CN 5 141024692 141024692 single base substitution G C downstream_gene_variant ESCA-CN 5 141024692 141024692 single base substitution G C exon_variant ESCA-CN 5 141024692 141024692 single base substitution G C missense_variant D128E 384C>G ESCA-CN 5 141024692 141024692 single base substitution G C missense_variant D369E 1107C>G ESCA-CN 5 141024692 141024692 single base substitution G C missense_variant D371E 1113C>G ESCA-CN 5 141024692 141024692 single base substitution G C missense_variant D445E 1335C>G ESCA-CN 5 141024692 141024692 single base substitution G C upstream_gene_variant GBM-US 5 141029038 141029038 single base substitution C T missense_variant R100Q 299G>A GBM-US 5 141029038 141029038 single base substitution C T missense_variant R24Q 71G>A GBM-US 5 141029038 141029038 single base substitution C T missense_variant R98Q 293G>A GBM-US 5 141029038 141029038 single base substitution C T upstream_gene_variant GBM-US 5 141035273 141035273 single base substitution G A upstream_gene_variant KIRC-US 5 141019628 141019628 single base substitution G A 3_prime_UTR_variant KIRC-US 5 141019628 141019628 single base substitution G A downstream_gene_variant KIRC-US 5 141019628 141019628 single base substitution G A exon_variant KIRC-US 5 141025713 141025713 single base substitution C A downstream_gene_variant KIRC-US 5 141025713 141025713 single base substitution C A exon_variant KIRC-US 5 141025713 141025713 single base substitution C A intron_variant KIRC-US 5 141025713 141025713 single base substitution C A stop_gained E288* 862G>T KIRC-US 5 141025713 141025713 single base substitution C A stop_gained E364* 1090G>T KIRC-US 5 141025713 141025713 single base substitution C A stop_gained E47* 139G>T KIRC-US 5 141025713 141025713 single base substitution C A upstream_gene_variant KIRC-US 5 141027542 141027542 single base substitution A C missense_variant L157R 470T>G KIRC-US 5 141027542 141027542 single base substitution A C missense_variant L231R 692T>G KIRC-US 5 141027542 141027542 single base substitution A C missense_variant L233R 698T>G KIRC-US 5 141027542 141027542 single base substitution A C upstream_gene_variant KIRC-US 5 141028860 141028860 single base substitution G A stop_gained Q129* 385C>T KIRC-US 5 141028860 141028860 single base substitution G A stop_gained Q131* 391C>T KIRC-US 5 141028860 141028860 single base substitution G A stop_gained Q55* 163C>T KIRC-US 5 141028860 141028860 single base substitution G A upstream_gene_variant KIRP-US 5 141033934 141033934 single base substitution T C upstream_gene_variant KIRP-US 5 141035313 141035313 single base substitution G C upstream_gene_variant LAML-KR 5 141026386 141026386 single base substitution G A downstream_gene_variant LAML-KR 5 141026386 141026386 single base substitution G A intron_variant LAML-KR 5 141026386 141026386 single base substitution G A upstream_gene_variant LAML-KR 5 141027226 141027226 single base substitution G A downstream_gene_variant LAML-KR 5 141027226 141027226 single base substitution G A exon_variant LAML-KR 5 141027226 141027226 single base substitution G A intron_variant LAML-KR 5 141027226 141027226 single base substitution G A upstream_gene_variant LAML-KR 5 141028381 141028381 single base substitution T C intron_variant LAML-KR 5 141028381 141028381 single base substitution T C upstream_gene_variant LAML-KR 5 141034123 141034123 single base substitution T A upstream_gene_variant LAML-KR 5 141035248 141035248 single base substitution A G upstream_gene_variant LGG-US 5 141018562 141018564 deletion of <=200bp AGG - downstream_gene_variant LGG-US 5 141019513 141019513 single base substitution G C 3_prime_UTR_variant LGG-US 5 141019513 141019513 single base substitution G C downstream_gene_variant LGG-US 5 141019513 141019513 single base substitution G C exon_variant LGG-US 5 141023973 141023973 single base substitution C T 3_prime_UTR_variant LGG-US 5 141023973 141023973 single base substitution C T downstream_gene_variant LGG-US 5 141023973 141023973 single base substitution C T exon_variant LGG-US 5 141023973 141023973 single base substitution C T missense_variant G485R 1453G>A LGG-US 5 141023973 141023973 single base substitution C T missense_variant G559R 1675G>A LGG-US 5 141023973 141023973 single base substitution C T upstream_gene_variant LGG-US 5 141028985 141028985 single base substitution C T missense_variant A116T 346G>A LGG-US 5 141028985 141028985 single base substitution C T missense_variant A118T 352G>A LGG-US 5 141028985 141028985 single base substitution C T missense_variant A42T 124G>A LGG-US 5 141028985 141028985 single base substitution C T upstream_gene_variant LGG-US 5 141035270 141035270 single base substitution C T upstream_gene_variant LGG-US 5 141035828 141035828 single base substitution G A upstream_gene_variant LIAD-FR 5 141021096 141021096 single base substitution G A 3_prime_UTR_variant LIAD-FR 5 141021096 141021096 single base substitution G A downstream_gene_variant LIAD-FR 5 141021096 141021096 single base substitution G A exon_variant LIAD-FR 5 141021096 141021096 single base substitution G A missense_variant P681L 2042C>T LICA-CN 5 141024497 141024497 single base substitution C T downstream_gene_variant LICA-CN 5 141024497 141024497 single base substitution C T exon_variant LICA-CN 5 141024497 141024497 single base substitution C T missense_variant D168N 502G>A LICA-CN 5 141024497 141024497 single base substitution C T missense_variant D411N 1231G>A LICA-CN 5 141024497 141024497 single base substitution C T missense_variant D485N 1453G>A LICA-CN 5 141024497 141024497 single base substitution C T synonymous_variant R407R 1221G>A LICA-CN 5 141024497 141024497 single base substitution C T upstream_gene_variant LICA-CN 5 141027081 141027081 single base substitution C A downstream_gene_variant LICA-CN 5 141027081 141027081 single base substitution C A exon_variant LICA-CN 5 141027081 141027081 single base substitution C A missense_variant V162F 484G>T LICA-CN 5 141027081 141027081 single base substitution C A missense_variant V236F 706G>T LICA-CN 5 141027081 141027081 single base substitution C A missense_variant V238F 712G>T LICA-CN 5 141027081 141027081 single base substitution C A upstream_gene_variant LICA-CN 5 141033717 141033717 single base substitution C T upstream_gene_variant LICA-FR 5 141019058 141019058 single base substitution C T 3_prime_UTR_variant LICA-FR 5 141019058 141019058 single base substitution C T downstream_gene_variant LICA-FR 5 141019058 141019058 single base substitution C T exon_variant LICA-FR 5 141022656 141022656 single base substitution C G downstream_gene_variant LICA-FR 5 141022656 141022656 single base substitution C G intron_variant LICA-FR 5 141022656 141022656 single base substitution C G splice_acceptor_variant LICA-FR 5 141022656 141022656 single base substitution C G upstream_gene_variant LICA-FR 5 141029766 141029787 deletion of <=200bp CAAGGTCACATGGCTATAATTA - intron_variant LICA-FR 5 141029766 141029787 deletion of <=200bp CAAGGTCACATGGCTATAATTA - upstream_gene_variant LIHC-US 5 141019591 141019591 single base substitution G T 3_prime_UTR_variant LIHC-US 5 141019591 141019591 single base substitution G T downstream_gene_variant LIHC-US 5 141019591 141019591 single base substitution G T exon_variant LIHC-US 5 141033643 141033643 single base substitution C A upstream_gene_variant LINC-JP 5 141014295 141014295 single base substitution G T downstream_gene_variant LINC-JP 5 141018158 141018158 single base substitution A G downstream_gene_variant LINC-JP 5 141020530 141020530 single base substitution A G 3_prime_UTR_variant LINC-JP 5 141020530 141020530 single base substitution A G downstream_gene_variant LINC-JP 5 141020530 141020530 single base substitution A G exon_variant LINC-JP 5 141024392 141024392 single base substitution A T downstream_gene_variant LINC-JP 5 141024392 141024392 single base substitution A T intron_variant LINC-JP 5 141024392 141024392 single base substitution A T upstream_gene_variant LINC-JP 5 141027054 141027054 single base substitution C T downstream_gene_variant LINC-JP 5 141027054 141027054 single base substitution C T exon_variant LINC-JP 5 141027054 141027054 single base substitution C T missense_variant D171N 511G>A LINC-JP 5 141027054 141027054 single base substitution C T missense_variant D245N 733G>A LINC-JP 5 141027054 141027054 single base substitution C T missense_variant D247N 739G>A LINC-JP 5 141027054 141027054 single base substitution C T upstream_gene_variant LINC-JP 5 141030657 141030657 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LINC-JP 5 141030657 141030657 single base substitution G A missense_variant R17C 49C>T LINC-JP 5 141030657 141030657 single base substitution G A upstream_gene_variant LINC-JP 5 141034092 141034092 single base substitution C T upstream_gene_variant LIRI-JP 5 141015773 141015773 single base substitution C T downstream_gene_variant LIRI-JP 5 141018265 141018265 single base substitution G A downstream_gene_variant LIRI-JP 5 141020486 141020486 single base substitution T C 3_prime_UTR_variant LIRI-JP 5 141020486 141020486 single base substitution T C downstream_gene_variant LIRI-JP 5 141020486 141020486 single base substitution T C exon_variant LIRI-JP 5 141024744 141024744 single base substitution G A downstream_gene_variant LIRI-JP 5 141024744 141024744 single base substitution G A intron_variant LIRI-JP 5 141024744 141024744 single base substitution G A upstream_gene_variant LIRI-JP 5 141025994 141025994 single base substitution T C downstream_gene_variant LIRI-JP 5 141025994 141025994 single base substitution T C exon_variant LIRI-JP 5 141025994 141025994 single base substitution T C intron_variant LIRI-JP 5 141025994 141025994 single base substitution T C upstream_gene_variant LIRI-JP 5 141026432 141026432 single base substitution G A downstream_gene_variant LIRI-JP 5 141026432 141026432 single base substitution G A intron_variant LIRI-JP 5 141026432 141026432 single base substitution G A upstream_gene_variant LIRI-JP 5 141029178 141029178 deletion of <=200bp T - intron_variant LIRI-JP 5 141029178 141029178 deletion of <=200bp T - upstream_gene_variant LIRI-JP 5 141035078 141035078 single base substitution G A upstream_gene_variant LIRI-JP 5 141035621 141035621 single base substitution A T upstream_gene_variant LUSC-KR 5 141014778 141014778 single base substitution C A downstream_gene_variant LUSC-KR 5 141017339 141017339 single base substitution A C downstream_gene_variant LUSC-KR 5 141025581 141025581 single base substitution A G downstream_gene_variant LUSC-KR 5 141025581 141025581 single base substitution A G intron_variant LUSC-KR 5 141025581 141025581 single base substitution A G upstream_gene_variant LUSC-KR 5 141025929 141025929 single base substitution A G 5_prime_UTR_variant LUSC-KR 5 141025929 141025929 single base substitution A G downstream_gene_variant LUSC-KR 5 141025929 141025929 single base substitution A G exon_variant LUSC-KR 5 141025929 141025929 single base substitution A G intron_variant LUSC-KR 5 141025929 141025929 single base substitution A G upstream_gene_variant LUSC-KR 5 141026182 141026182 single base substitution G T downstream_gene_variant LUSC-KR 5 141026182 141026182 single base substitution G T exon_variant LUSC-KR 5 141026182 141026182 single base substitution G T missense_variant N268K 804C>A LUSC-KR 5 141026182 141026182 single base substitution G T missense_variant N342K 1026C>A LUSC-KR 5 141026182 141026182 single base substitution G T missense_variant N344K 1032C>A LUSC-KR 5 141026182 141026182 single base substitution G T upstream_gene_variant LUSC-KR 5 141027226 141027226 single base substitution G A downstream_gene_variant LUSC-KR 5 141027226 141027226 single base substitution G A exon_variant LUSC-KR 5 141027226 141027226 single base substitution G A intron_variant LUSC-KR 5 141027226 141027226 single base substitution G A upstream_gene_variant LUSC-KR 5 141027399 141027399 single base substitution T C downstream_gene_variant LUSC-KR 5 141027399 141027399 single base substitution T C intron_variant LUSC-KR 5 141027399 141027399 single base substitution T C upstream_gene_variant LUSC-KR 5 141027462 141027462 single base substitution G A 3_prime_UTR_variant LUSC-KR 5 141027462 141027462 single base substitution G A intron_variant LUSC-KR 5 141027462 141027462 single base substitution G A upstream_gene_variant LUSC-KR 5 141028641 141028641 single base substitution T A intron_variant LUSC-KR 5 141028641 141028641 single base substitution T A upstream_gene_variant LUSC-KR 5 141033668 141033668 single base substitution C G upstream_gene_variant LUSC-US 5 141019182 141019182 single base substitution C T 3_prime_UTR_variant LUSC-US 5 141019182 141019182 single base substitution C T downstream_gene_variant LUSC-US 5 141019182 141019182 single base substitution C T exon_variant LUSC-US 5 141019704 141019704 single base substitution G T 3_prime_UTR_variant LUSC-US 5 141019704 141019704 single base substitution G T downstream_gene_variant LUSC-US 5 141019704 141019704 single base substitution G T exon_variant LUSC-US 5 141019991 141019991 single base substitution C A 3_prime_UTR_variant LUSC-US 5 141019991 141019991 single base substitution C A downstream_gene_variant LUSC-US 5 141019991 141019991 single base substitution C A exon_variant LUSC-US 5 141023886 141023886 single base substitution A G 3_prime_UTR_variant LUSC-US 5 141023886 141023886 single base substitution A G downstream_gene_variant LUSC-US 5 141023886 141023886 single base substitution A G exon_variant LUSC-US 5 141023886 141023886 single base substitution A G missense_variant W514R 1540T>C LUSC-US 5 141023886 141023886 single base substitution A G missense_variant W588R 1762T>C LUSC-US 5 141023886 141023886 single base substitution A G upstream_gene_variant LUSC-US 5 141026213 141026213 single base substitution C A downstream_gene_variant LUSC-US 5 141026213 141026213 single base substitution C A exon_variant LUSC-US 5 141026213 141026213 single base substitution C A missense_variant S258I 773G>T LUSC-US 5 141026213 141026213 single base substitution C A missense_variant S332I 995G>T LUSC-US 5 141026213 141026213 single base substitution C A missense_variant S334I 1001G>T LUSC-US 5 141026213 141026213 single base substitution C A upstream_gene_variant LUSC-US 5 141029088 141029088 single base substitution G A synonymous_variant F7F 21C>T LUSC-US 5 141029088 141029088 single base substitution G A synonymous_variant F81F 243C>T LUSC-US 5 141029088 141029088 single base substitution G A synonymous_variant F83F 249C>T LUSC-US 5 141029088 141029088 single base substitution G A upstream_gene_variant LUSC-US 5 141033816 141033816 single base substitution C A upstream_gene_variant MALY-DE 5 141014855 141014855 single base substitution T G downstream_gene_variant MALY-DE 5 141017312 141017312 single base substitution C T downstream_gene_variant MALY-DE 5 141022322 141022322 single base substitution G C downstream_gene_variant MALY-DE 5 141022322 141022322 single base substitution G C intron_variant MALY-DE 5 141022322 141022322 single base substitution G C upstream_gene_variant MALY-DE 5 141030770 141030770 single base substitution G A intron_variant MALY-DE 5 141030770 141030770 single base substitution G A upstream_gene_variant MALY-DE 5 141030925 141030925 single base substitution G A missense_variant P4L 11C>T MALY-DE 5 141030925 141030925 single base substitution G A upstream_gene_variant MALY-DE 5 141034273 141034273 single base substitution T G upstream_gene_variant MELA-AU 5 141015051 141015051 single base substitution T C downstream_gene_variant MELA-AU 5 141016233 141016234 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 141016498 141016498 single base substitution C T downstream_gene_variant MELA-AU 5 141018461 141018461 single base substitution C T downstream_gene_variant MELA-AU 5 141018535 141018535 single base substitution C T downstream_gene_variant MELA-AU 5 141018541 141018541 single base substitution G A downstream_gene_variant MELA-AU 5 141019744 141019744 single base substitution G A 3_prime_UTR_variant MELA-AU 5 141019744 141019744 single base substitution G A downstream_gene_variant MELA-AU 5 141019744 141019744 single base substitution G A exon_variant MELA-AU 5 141019785 141019785 single base substitution G A 3_prime_UTR_variant MELA-AU 5 141019785 141019785 single base substitution G A downstream_gene_variant MELA-AU 5 141019785 141019785 single base substitution G A exon_variant MELA-AU 5 141020309 141020309 single base substitution C T 3_prime_UTR_variant MELA-AU 5 141020309 141020309 single base substitution C T downstream_gene_variant MELA-AU 5 141020309 141020309 single base substitution C T exon_variant MELA-AU 5 141022479 141022479 single base substitution G A downstream_gene_variant MELA-AU 5 141022479 141022479 single base substitution G A intron_variant MELA-AU 5 141022479 141022479 single base substitution G A upstream_gene_variant MELA-AU 5 141022656 141022656 single base substitution C G downstream_gene_variant MELA-AU 5 141022656 141022656 single base substitution C G intron_variant MELA-AU 5 141022656 141022656 single base substitution C G splice_acceptor_variant MELA-AU 5 141022656 141022656 single base substitution C G upstream_gene_variant MELA-AU 5 141024028 141024028 single base substitution G A downstream_gene_variant MELA-AU 5 141024028 141024028 single base substitution G A intron_variant MELA-AU 5 141024028 141024028 single base substitution G A upstream_gene_variant MELA-AU 5 141024140 141024140 single base substitution C T downstream_gene_variant MELA-AU 5 141024140 141024140 single base substitution C T missense_variant A474T 1420G>A MELA-AU 5 141024140 141024140 single base substitution C T missense_variant A548T 1642G>A MELA-AU 5 141024140 141024140 single base substitution C T splice_region_variant MELA-AU 5 141024140 141024140 single base substitution C T upstream_gene_variant MELA-AU 5 141024147 141024147 single base substitution C T 3_prime_UTR_variant MELA-AU 5 141024147 141024147 single base substitution C T downstream_gene_variant MELA-AU 5 141024147 141024147 single base substitution C T exon_variant MELA-AU 5 141024147 141024147 single base substitution C T synonymous_variant E471E 1413G>A MELA-AU 5 141024147 141024147 single base substitution C T synonymous_variant E545E 1635G>A MELA-AU 5 141024147 141024147 single base substitution C T upstream_gene_variant MELA-AU 5 141024729 141024729 single base substitution G A downstream_gene_variant MELA-AU 5 141024729 141024729 single base substitution G A intron_variant MELA-AU 5 141024729 141024729 single base substitution G A upstream_gene_variant MELA-AU 5 141024972 141024972 single base substitution A T downstream_gene_variant MELA-AU 5 141024972 141024972 single base substitution A T intron_variant MELA-AU 5 141024972 141024972 single base substitution A T upstream_gene_variant MELA-AU 5 141025338 141025338 single base substitution G A downstream_gene_variant MELA-AU 5 141025338 141025338 single base substitution G A splice_region_variant MELA-AU 5 141025338 141025338 single base substitution G A upstream_gene_variant MELA-AU 5 141025407 141025407 single base substitution G A downstream_gene_variant MELA-AU 5 141025407 141025407 single base substitution G A exon_variant MELA-AU 5 141025407 141025407 single base substitution G A intron_variant MELA-AU 5 141025407 141025407 single base substitution G A synonymous_variant A338A 1014C>T MELA-AU 5 141025407 141025407 single base substitution G A synonymous_variant A414A 1242C>T MELA-AU 5 141025407 141025407 single base substitution G A synonymous_variant A97A 291C>T MELA-AU 5 141025407 141025407 single base substitution G A upstream_gene_variant MELA-AU 5 141025537 141025537 single base substitution G A downstream_gene_variant MELA-AU 5 141025537 141025537 single base substitution G A intron_variant MELA-AU 5 141025537 141025537 single base substitution G A upstream_gene_variant MELA-AU 5 141025641 141025641 single base substitution G A downstream_gene_variant MELA-AU 5 141025641 141025641 single base substitution G A intron_variant MELA-AU 5 141025641 141025641 single base substitution G A upstream_gene_variant MELA-AU 5 141025966 141025966 single base substitution G A downstream_gene_variant MELA-AU 5 141025966 141025966 single base substitution G A exon_variant MELA-AU 5 141025966 141025966 single base substitution G A intron_variant MELA-AU 5 141025966 141025966 single base substitution G A upstream_gene_variant MELA-AU 5 141029495 141029495 single base substitution G A 5_prime_UTR_variant MELA-AU 5 141029495 141029495 single base substitution G A synonymous_variant F64F 192C>T MELA-AU 5 141029495 141029495 single base substitution G A upstream_gene_variant MELA-AU 5 141029541 141029542 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 5 141029541 141029542 multiple base substitution (>=2bp and <=200bp) AG TA upstream_gene_variant MELA-AU 5 141029586 141029586 single base substitution G A intron_variant MELA-AU 5 141029586 141029586 single base substitution G A upstream_gene_variant MELA-AU 5 141029859 141029859 single base substitution G A intron_variant MELA-AU 5 141029859 141029859 single base substitution G A upstream_gene_variant MELA-AU 5 141030972 141030972 single base substitution G A 5_prime_UTR_variant MELA-AU 5 141030972 141030972 single base substitution G A upstream_gene_variant MELA-AU 5 141030978 141030978 single base substitution G A 5_prime_UTR_variant MELA-AU 5 141030978 141030978 single base substitution G A upstream_gene_variant MELA-AU 5 141031025 141031025 single base substitution C T upstream_gene_variant MELA-AU 5 141031041 141031042 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 5 141032233 141032233 single base substitution C T upstream_gene_variant MELA-AU 5 141032666 141032666 single base substitution C T upstream_gene_variant MELA-AU 5 141032975 141032975 single base substitution G A upstream_gene_variant MELA-AU 5 141033917 141033917 single base substitution C T upstream_gene_variant MELA-AU 5 141033954 141033954 single base substitution C T upstream_gene_variant MELA-AU 5 141035008 141035008 single base substitution T C upstream_gene_variant MELA-AU 5 141035235 141035236 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 5 141035748 141035748 single base substitution G A upstream_gene_variant MELA-AU 5 141035772 141035772 single base substitution C T upstream_gene_variant MELA-AU 5 141035914 141035914 single base substitution G A upstream_gene_variant MELA-AU 5 141035946 141035946 single base substitution G A upstream_gene_variant MELA-AU 5 141035976 141035976 single base substitution A C upstream_gene_variant ORCA-IN 5 141018842 141018842 single base substitution G A downstream_gene_variant ORCA-IN 5 141021127 141021127 single base substitution G A 3_prime_UTR_variant ORCA-IN 5 141021127 141021127 single base substitution G A downstream_gene_variant ORCA-IN 5 141021127 141021127 single base substitution G A exon_variant ORCA-IN 5 141021127 141021127 single base substitution G A missense_variant R671C 2011C>T ORCA-IN 5 141023430 141023430 deletion of <=200bp G - downstream_gene_variant ORCA-IN 5 141023430 141023430 deletion of <=200bp G - intron_variant ORCA-IN 5 141023430 141023430 deletion of <=200bp G - upstream_gene_variant ORCA-IN 5 141029830 141029830 insertion of <=200bp - G intron_variant ORCA-IN 5 141029830 141029830 insertion of <=200bp - G upstream_gene_variant OV-AU 5 141020825 141020825 single base substitution G T 3_prime_UTR_variant OV-AU 5 141020825 141020825 single base substitution G T downstream_gene_variant OV-AU 5 141020825 141020825 single base substitution G T exon_variant PACA-AU 5 141020263 141020263 single base substitution C A 3_prime_UTR_variant PACA-AU 5 141020263 141020263 single base substitution C A downstream_gene_variant PACA-AU 5 141020263 141020263 single base substitution C A exon_variant PACA-CA 5 141014054 141014054 deletion of <=200bp G - downstream_gene_variant PACA-CA 5 141014480 141014480 single base substitution C T downstream_gene_variant PACA-CA 5 141017018 141017018 single base substitution A C downstream_gene_variant PACA-CA 5 141017957 141017957 single base substitution C T downstream_gene_variant PACA-CA 5 141027812 141027812 single base substitution A C intron_variant PACA-CA 5 141027812 141027812 single base substitution A C upstream_gene_variant PACA-CA 5 141033826 141033826 insertion of <=200bp - AT upstream_gene_variant PACA-CA 5 141033943 141033943 single base substitution G A upstream_gene_variant PAEN-IT 5 141035699 141035699 single base substitution G T upstream_gene_variant PBCA-DE 5 141027845 141027845 single base substitution C T intron_variant PBCA-DE 5 141027845 141027845 single base substitution C T upstream_gene_variant PRAD-UK 5 141014530 141014530 single base substitution G T downstream_gene_variant PRAD-UK 5 141022493 141022493 single base substitution C T downstream_gene_variant PRAD-UK 5 141022493 141022493 single base substitution C T intron_variant PRAD-UK 5 141022493 141022493 single base substitution C T upstream_gene_variant PRAD-UK 5 141033246 141033246 deletion of <=200bp G - upstream_gene_variant PRAD-US 5 141017909 141017909 single base substitution C G downstream_gene_variant RECA-EU 5 141018829 141018829 single base substitution T G downstream_gene_variant SKCA-BR 5 141017126 141017126 single base substitution T C downstream_gene_variant SKCA-BR 5 141017130 141017130 single base substitution T C downstream_gene_variant SKCA-BR 5 141025367 141025367 single base substitution G A downstream_gene_variant SKCA-BR 5 141025367 141025367 single base substitution G A exon_variant SKCA-BR 5 141025367 141025367 single base substitution G A missense_variant R111W 331C>T SKCA-BR 5 141025367 141025367 single base substitution G A missense_variant R352W 1054C>T SKCA-BR 5 141025367 141025367 single base substitution G A missense_variant R354W 1060C>T SKCA-BR 5 141025367 141025367 single base substitution G A missense_variant R428W 1282C>T SKCA-BR 5 141025367 141025367 single base substitution G A upstream_gene_variant SKCA-BR 5 141030404 141030404 single base substitution A G intron_variant SKCA-BR 5 141030404 141030404 single base substitution A G upstream_gene_variant SKCA-BR 5 141031031 141031031 single base substitution C T upstream_gene_variant SKCA-BR 5 141031183 141031183 single base substitution A G upstream_gene_variant SKCA-BR 5 141032603 141032603 single base substitution A G upstream_gene_variant SKCA-BR 5 141032855 141032855 single base substitution C T upstream_gene_variant SKCA-BR 5 141033164 141033165 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 5 141035961 141035961 single base substitution G A upstream_gene_variant SKCM-US 5 141014470 141014470 single base substitution G A downstream_gene_variant SKCM-US 5 141016144 141016144 single base substitution G T downstream_gene_variant SKCM-US 5 141019180 141019180 single base substitution C T 3_prime_UTR_variant SKCM-US 5 141019180 141019180 single base substitution C T downstream_gene_variant SKCM-US 5 141019180 141019180 single base substitution C T exon_variant SKCM-US 5 141019574 141019574 single base substitution G A 3_prime_UTR_variant SKCM-US 5 141019574 141019574 single base substitution G A downstream_gene_variant SKCM-US 5 141019574 141019574 single base substitution G A exon_variant SKCM-US 5 141019704 141019704 single base substitution G T 3_prime_UTR_variant SKCM-US 5 141019704 141019704 single base substitution G T downstream_gene_variant SKCM-US 5 141019704 141019704 single base substitution G T exon_variant SKCM-US 5 141021112 141021112 single base substitution G A 3_prime_UTR_variant SKCM-US 5 141021112 141021112 single base substitution G A downstream_gene_variant SKCM-US 5 141021112 141021112 single base substitution G A exon_variant SKCM-US 5 141021112 141021112 single base substitution G A missense_variant P676S 2026C>T SKCM-US 5 141023974 141023974 single base substitution G A 3_prime_UTR_variant SKCM-US 5 141023974 141023974 single base substitution G A downstream_gene_variant SKCM-US 5 141023974 141023974 single base substitution G A exon_variant SKCM-US 5 141023974 141023974 single base substitution G A synonymous_variant T484T 1452C>T SKCM-US 5 141023974 141023974 single base substitution G A synonymous_variant T558T 1674C>T SKCM-US 5 141023974 141023974 single base substitution G A upstream_gene_variant SKCM-US 5 141025397 141025397 single base substitution C T downstream_gene_variant SKCM-US 5 141025397 141025397 single base substitution C T exon_variant SKCM-US 5 141025397 141025397 single base substitution C T intron_variant SKCM-US 5 141025397 141025397 single base substitution C T missense_variant V101M 301G>A SKCM-US 5 141025397 141025397 single base substitution C T missense_variant V342M 1024G>A SKCM-US 5 141025397 141025397 single base substitution C T missense_variant V418M 1252G>A SKCM-US 5 141025397 141025397 single base substitution C T upstream_gene_variant SKCM-US 5 141027087 141027087 single base substitution C T downstream_gene_variant SKCM-US 5 141027087 141027087 single base substitution C T exon_variant SKCM-US 5 141027087 141027087 single base substitution C T missense_variant A160T 478G>A SKCM-US 5 141027087 141027087 single base substitution C T missense_variant A234T 700G>A SKCM-US 5 141027087 141027087 single base substitution C T missense_variant A236T 706G>A SKCM-US 5 141027087 141027087 single base substitution C T upstream_gene_variant SKCM-US 5 141028539 141028539 single base substitution C T synonymous_variant Q111Q 333G>A SKCM-US 5 141028539 141028539 single base substitution C T synonymous_variant Q185Q 555G>A SKCM-US 5 141028539 141028539 single base substitution C T synonymous_variant Q187Q 561G>A SKCM-US 5 141028539 141028539 single base substitution C T upstream_gene_variant SKCM-US 5 141028737 141028737 single base substitution A G splice_donor_variant SKCM-US 5 141028737 141028737 single base substitution A G upstream_gene_variant SKCM-US 5 141029033 141029033 single base substitution G A stop_gained Q100* 298C>T SKCM-US 5 141029033 141029033 single base substitution G A stop_gained Q102* 304C>T SKCM-US 5 141029033 141029033 single base substitution G A stop_gained Q26* 76C>T SKCM-US 5 141029033 141029033 single base substitution G A upstream_gene_variant SKCM-US 5 141033693 141033693 single base substitution G A upstream_gene_variant SKCM-US 5 141035196 141035196 single base substitution G A upstream_gene_variant STAD-US 5 141014386 141014386 single base substitution G A downstream_gene_variant STAD-US 5 141014457 141014457 single base substitution C T downstream_gene_variant STAD-US 5 141014481 141014481 single base substitution G A downstream_gene_variant STAD-US 5 141016342 141016342 single base substitution C T downstream_gene_variant STAD-US 5 141017821 141017821 single base substitution C T downstream_gene_variant STAD-US 5 141019684 141019684 single base substitution G T 3_prime_UTR_variant STAD-US 5 141019684 141019684 single base substitution G T downstream_gene_variant STAD-US 5 141019684 141019684 single base substitution G T exon_variant STAD-US 5 141021298 141021298 single base substitution G T 3_prime_UTR_variant STAD-US 5 141021298 141021298 single base substitution G T downstream_gene_variant STAD-US 5 141021298 141021298 single base substitution G T exon_variant STAD-US 5 141021298 141021298 single base substitution G T missense_variant L660M 1978C>A STAD-US 5 141026256 141026256 single base substitution C T downstream_gene_variant STAD-US 5 141026256 141026256 single base substitution C T exon_variant STAD-US 5 141026256 141026256 single base substitution C T missense_variant A244T 730G>A STAD-US 5 141026256 141026256 single base substitution C T missense_variant A318T 952G>A STAD-US 5 141026256 141026256 single base substitution C T missense_variant A320T 958G>A STAD-US 5 141026256 141026256 single base substitution C T upstream_gene_variant STAD-US 5 141026260 141026260 single base substitution G A downstream_gene_variant STAD-US 5 141026260 141026260 single base substitution G A exon_variant STAD-US 5 141026260 141026260 single base substitution G A synonymous_variant G242G 726C>T STAD-US 5 141026260 141026260 single base substitution G A synonymous_variant G316G 948C>T STAD-US 5 141026260 141026260 single base substitution G A synonymous_variant G318G 954C>T STAD-US 5 141026260 141026260 single base substitution G A upstream_gene_variant STAD-US 5 141028814 141028814 single base substitution C T missense_variant R144Q 431G>A STAD-US 5 141028814 141028814 single base substitution C T missense_variant R146Q 437G>A STAD-US 5 141028814 141028814 single base substitution C T missense_variant R70Q 209G>A STAD-US 5 141028814 141028814 single base substitution C T upstream_gene_variant STAD-US 5 141028998 141028998 single base substitution A G synonymous_variant G111G 333T>C STAD-US 5 141028998 141028998 single base substitution A G synonymous_variant G113G 339T>C STAD-US 5 141028998 141028998 single base substitution A G synonymous_variant G37G 111T>C STAD-US 5 141028998 141028998 single base substitution A G upstream_gene_variant STAD-US 5 141029028 141029028 single base substitution C T synonymous_variant A101A 303G>A STAD-US 5 141029028 141029028 single base substitution C T synonymous_variant A103A 309G>A STAD-US 5 141029028 141029028 single base substitution C T synonymous_variant A27A 81G>A STAD-US 5 141029028 141029028 single base substitution C T upstream_gene_variant STAD-US 5 141033762 141033762 single base substitution C A upstream_gene_variant STAD-US 5 141033869 141033869 single base substitution G A upstream_gene_variant STAD-US 5 141035786 141035786 single base substitution G A upstream_gene_variant UCEC-US 5 141014391 141014391 single base substitution C T downstream_gene_variant UCEC-US 5 141014438 141014438 single base substitution C T downstream_gene_variant UCEC-US 5 141014504 141014504 single base substitution T C downstream_gene_variant UCEC-US 5 141016121 141016121 single base substitution C A downstream_gene_variant UCEC-US 5 141018369 141018369 single base substitution C T downstream_gene_variant UCEC-US 5 141018406 141018406 single base substitution C T downstream_gene_variant UCEC-US 5 141018584 141018584 single base substitution T A downstream_gene_variant UCEC-US 5 141019529 141019529 single base substitution A G 3_prime_UTR_variant UCEC-US 5 141019529 141019529 single base substitution A G downstream_gene_variant UCEC-US 5 141019529 141019529 single base substitution A G exon_variant UCEC-US 5 141019613 141019613 single base substitution G A 3_prime_UTR_variant UCEC-US 5 141019613 141019613 single base substitution G A downstream_gene_variant UCEC-US 5 141019613 141019613 single base substitution G A exon_variant UCEC-US 5 141019837 141019837 single base substitution G T 3_prime_UTR_variant UCEC-US 5 141019837 141019837 single base substitution G T downstream_gene_variant UCEC-US 5 141019837 141019837 single base substitution G T exon_variant UCEC-US 5 141024670 141024670 single base substitution C T downstream_gene_variant UCEC-US 5 141024670 141024670 single base substitution C T exon_variant UCEC-US 5 141024670 141024670 single base substitution C T missense_variant G136R 406G>A UCEC-US 5 141024670 141024670 single base substitution C T missense_variant G377R 1129G>A UCEC-US 5 141024670 141024670 single base substitution C T missense_variant G379R 1135G>A UCEC-US 5 141024670 141024670 single base substitution C T missense_variant G453R 1357G>A UCEC-US 5 141024670 141024670 single base substitution C T upstream_gene_variant UCEC-US 5 141025711 141025711 single base substitution C A downstream_gene_variant UCEC-US 5 141025711 141025711 single base substitution C A exon_variant UCEC-US 5 141025711 141025711 single base substitution C A intron_variant UCEC-US 5 141025711 141025711 single base substitution C A missense_variant E288D 864G>T UCEC-US 5 141025711 141025711 single base substitution C A missense_variant E364D 1092G>T UCEC-US 5 141025711 141025711 single base substitution C A missense_variant E47D 141G>T UCEC-US 5 141025711 141025711 single base substitution C A upstream_gene_variant UCEC-US 5 141026985 141026985 single base substitution C T downstream_gene_variant UCEC-US 5 141026985 141026985 single base substitution C T exon_variant UCEC-US 5 141026985 141026985 single base substitution C T missense_variant G194R 580G>A UCEC-US 5 141026985 141026985 single base substitution C T missense_variant G268R 802G>A UCEC-US 5 141026985 141026985 single base substitution C T missense_variant G270R 808G>A UCEC-US 5 141026985 141026985 single base substitution C T upstream_gene_variant UCEC-US 5 141027540 141027540 single base substitution G A missense_variant L158F 472C>T UCEC-US 5 141027540 141027540 single base substitution G A missense_variant L232F 694C>T UCEC-US 5 141027540 141027540 single base substitution G A missense_variant L234F 700C>T UCEC-US 5 141027540 141027540 single base substitution G A upstream_gene_variant UCEC-US 5 141027590 141027590 single base substitution G A missense_variant A141V 422C>T UCEC-US 5 141027590 141027590 single base substitution G A missense_variant A215V 644C>T UCEC-US 5 141027590 141027590 single base substitution G A missense_variant A217V 650C>T UCEC-US 5 141027590 141027590 single base substitution G A upstream_gene_variant UCEC-US 5 141028986 141028986 single base substitution G A synonymous_variant S115S 345C>T UCEC-US 5 141028986 141028986 single base substitution G A synonymous_variant S117S 351C>T UCEC-US 5 141028986 141028986 single base substitution G A synonymous_variant S41S 123C>T UCEC-US 5 141028986 141028986 single base substitution G A upstream_gene_variant UCEC-US 5 141034936 141034936 single base substitution A G upstream_gene_variant UCEC-US 5 141035240 141035240 single base substitution G T upstream_gene_variant UCEC-US 5 141035632 141035632 single base substitution G T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CS-6186-01 COSM3975292 c.352G>A p.A118T Substitution - Missense 5:141649418-141649418 - 1517_CLM COSM5756587 c.1447C>T p.R483C Substitution - Missense 5:141644936-141644936 - SH-7329 COSM5020566 c.66G>A p.L22L Substitution - coding silent 5:141651073-141651073 - SC_9099 COSM5572743 c.1665C>T p.Y555Y Substitution - coding silent 5:141644416-141644416 - TCGA-HT-7687-01 COSM3975291 c.1675G>A p.G559R Substitution - Missense 5:141644406-141644406 - TCGA-AF-2693-01 COSM5065301 c.2034T>A p.A678A Substitution - coding silent 5:141641537-141641537 - pfg043T COSM4762126 c.1864-2A>T p.? Unknown 5:141643090-141643090 - pfg129T COSM4762127 c.622C>T p.R208C Substitution - Missense 5:141648051-141648051 - S12-23181-TP COSM4992252 c.1767G>A p.R589R Substitution - coding silent 5:141644314-141644314 - TCGA-A6-5665-01 COSM1434747 c.651T>G p.A217A Substitution - coding silent 5:141648022-141648022 - TCGA-FU-A3HZ-01 COSM4838959 c.1543G>A p.E515K Substitution - Missense 5:141644672-141644672 - TCGA-D1-A16F-01 COSM1063528 c.650C>T p.A217V Substitution - Missense 5:141648023-141648023 - Pat_53_B COSM5867673 c.322C>T p.R108C Substitution - Missense 5:141649448-141649448 - TCGA-AG-A002-01 COSM260921 c.139G>T p.A47S Substitution - Missense 5:141650385-141650385 - TCGA-66-2754-01 COSM736581 c.1001G>T p.S334I Substitution - Missense 5:141646646-141646646 - TCGA-FW-A3R5-06 COSM3919205 c.304C>T p.Q102* Substitution - Nonsense 5:141649466-141649466 - TCGA-A5-A0GB-01 COSM1063523 c.2065C>A p.L689I Substitution - Missense 5:141641506-141641506 - CSCC-10-T COSM4456895 c.1026C>T p.I342I Substitution - coding silent 5:141646621-141646621 - SNU-C4 COSM4653901 c.612G>A p.L204L Substitution - coding silent 5:141648061-141648061 - 2492723 COSM5720445 c.540C>A p.F180L Substitution - Missense 5:141648993-141648993 - TCGA-EE-A29S-06 COSM3611766 c.512+2T>C p.? Unknown 5:141649170-141649170 - TCGA-43-6143-01 COSM736583 c.1762T>C p.W588R Substitution - Missense 5:141644319-141644319 - SH-7282 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - BN38T COSM1619762 c.49C>T p.R17C Substitution - Missense 5:141651090-141651090 - I2L-P19Ta-Tumor-Organoid COSM5356501 c.1267C>T p.R423W Substitution - Missense 5:141645815-141645815 - 2492720 COSM5720445 c.540C>A p.F180L Substitution - Missense 5:141648993-141648993 - 2492722 COSM5720445 c.540C>A p.F180L Substitution - Missense 5:141648993-141648993 - 8665_CLM COSM5756588 c.58G>A p.E20K Substitution - Missense 5:141651081-141651081 - TCGA-AA-3697-01 COSM1434749 c.617C>T p.A206V Substitution - Missense 5:141648056-141648056 - LIM2405 COSM4642958 c.1581G>A p.P527P Substitution - coding silent 5:141644634-141644634 - D28 COSM5544997 c.1803C>T p.S601S Substitution - coding silent 5:141644278-141644278 - T3101 COSM3611762 c.1674C>T p.T558T Substitution - coding silent 5:141644407-141644407 - BD6T COSM5498918 c.151C>T p.R51W Substitution - Missense 5:141650373-141650373 - ESO-0061 COSM1252315 c.527A>G p.D176G Substitution - Missense 5:141649006-141649006 - 8665_PT COSM5756588 c.58G>A p.E20K Substitution - Missense 5:141651081-141651081 - NCI-H727 COSM3209116 c.440G>T p.S147I Substitution - Missense 5:141649244-141649244 - TCGA-39-5030-01 COSM736580 c.249C>T p.F83F Substitution - coding silent 5:141649521-141649521 - DLD1 COSM4625454 c.565C>A p.L189M Substitution - Missense 5:141648968-141648968 - 2497767 COSM5750176 c.1696A>G p.S566G Substitution - Missense 5:141644385-141644385 - SH-0348 COSM5019044 c.1333_1336delGACT p.D445fs*42 Deletion - Frameshift 5:141645124-141645127 - TCGA-B7-5816-01 COSM3852238 c.958G>A p.A320T Substitution - Missense 5:141646689-141646689 - T2940 COSM4684215 c.1432C>T p.R478C Substitution - Missense 5:141645028-141645028 - SH-3458 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - TCGA-EE-A3AF-06 COSM3611762 c.1674C>T p.T558T Substitution - coding silent 5:141644407-141644407 - TCGA-AP-A051-01 COSM1063525 c.1092G>T p.E364D Substitution - Missense 5:141646144-141646144 - YUGATOR COSM5402552 c.15C>T p.P5P Substitution - coding silent 5:141651354-141651354 - TCGA-06-0166-01 COSM2150188 c.299G>A p.R100Q Substitution - Missense 5:141649471-141649471 - TCGA-AB-2810-03 COSM1319250 c.234G>A p.R78R Substitution - coding silent 5:141649536-141649536 - TCGA-D3-A2JD-06 COSM3611763 c.1252G>A p.V418M Substitution - Missense 5:141645830-141645830 - SH-6055 COSM5020182 c.1045-9C>T p.? Unknown 5:141646200-141646200 - PT25 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - PD22358a COSM5784100 c.1126C>G p.R376G Substitution - Missense 5:141646110-141646110 - SH-3327 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - SH-4435 COSM5020182 c.1045-9C>T p.? Unknown 5:141646200-141646200 - SH-1679 COSM5019580 c.467G>A p.R156H Substitution - Missense 5:141649217-141649217 - TCGA-AD-6895-01 COSM1434746 c.720G>A p.E240E Substitution - coding silent 5:141647506-141647506 - 2492721 COSM5720445 c.540C>A p.F180L Substitution - Missense 5:141648993-141648993 - 66 COSM3209109 c.955G>A p.V319M Substitution - Missense 5:141646692-141646692 - SH-7032 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - S02-15015-TP COSM4992253 c.1642G>A p.A548T Substitution - Missense 5:141644573-141644573 - 409 COSM4430760 c.2030C>T p.P677L Substitution - Missense 5:141641541-141641541 - TCGA-D1-A163-01 COSM1063526 c.893C>A p.P298H Substitution - Missense 5:141647166-141647166 - TCGA-AN-A046-01 COSM3827268 c.910G>T p.A304S Substitution - Missense 5:141647149-141647149 - TCGA-IR-A3LK-01 COSM4816586 c.1504G>A p.D502N Substitution - Missense 5:141644879-141644879 - Pat_45_A COSM4838959 c.1543G>A p.E515K Substitution - Missense 5:141644672-141644672 - TCGA-BR-8361-01 COSM3852240 c.309G>A p.A103A Substitution - coding silent 5:141649461-141649461 - TCGA-EE-A3AC-06 COSM3611765 c.561G>A p.Q187Q Substitution - coding silent 5:141648972-141648972 - HN_00761 COSM127987 c.1557C>T p.V519V Substitution - coding silent 5:141644658-141644658 - SH-7032 COSM5020566 c.66G>A p.L22L Substitution - coding silent 5:141651073-141651073 - TCGA-AA-A00N-01 COSM275150 c.1513G>A p.E505K Substitution - Missense 5:141644870-141644870 - HCC103T COSM3661547 c.739G>A p.D247N Substitution - Missense 5:141647487-141647487 - SH-1679 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - TCGA-AA-3492-01 COSM1434748 c.623G>A p.R208H Substitution - Missense 5:141648050-141648050 - TCGA-AC-A23H-01 COSM3827267 c.1055G>A p.R352Q Substitution - Missense 5:141646181-141646181 - 2171668 COSM4423221 c.347G>A p.R116Q Substitution - Missense 5:141649423-141649423 - TCGA-AG-A002-01 COSM260920 c.437G>A p.R146Q Substitution - Missense 5:141649247-141649247 - CSCC-17-T COSM4463822 c.1307C>T p.P436L Substitution - Missense 5:141645775-141645775 - TCGA-AP-A059-01 COSM1063527 c.700C>T p.L234F Substitution - Missense 5:141647973-141647973 - TCGA-CM-4743-01 COSM1434744 c.954C>T p.G318G Substitution - coding silent 5:141646693-141646693 - NCI-H727 COSM3209094 c.1582G>A p.D528N Substitution - Missense 5:141644633-141644633 - I2L-P19Ta-Tumor-Biopsy COSM5356501 c.1267C>T p.R423W Substitution - Missense 5:141645815-141645815 - SH-7166 COSM5020566 c.66G>A p.L22L Substitution - coding silent 5:141651073-141651073 - TCGA-09-2044-01 COSM70766 c.926T>C p.V309A Substitution - Missense 5:141646721-141646721 - SH-9771 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - TCGA-DR-A0ZM-01 COSM462047 c.1714C>G p.L572V Substitution - Missense 5:141644367-141644367 - TCGA-AN-A046-01 COSM3827265 c.1502G>A p.G501E Substitution - Missense 5:141644881-141644881 - TCGA-D8-A27H-01 COSM1486444 c.283G>T p.A95S Substitution - Missense 5:141649487-141649487 - TCGA-B0-4945-01 COSM482250 c.698T>G p.L233R Substitution - Missense 5:141647975-141647975 - S12-23181-TP COSM4992251 c.1768G>A p.G590R Substitution - Missense 5:141644313-141644313 - TCGA-B0-5694-01 COSM482251 c.391C>T p.Q131* Substitution - Nonsense 5:141649293-141649293 - CSCC-29-T COSM4567057 c.54_55CC>TT p.(=) Unknown 5:141651084-141651085 - ESCC_BICR_041T COSM5441385 c.1335C>G p.D445E Substitution - Missense 5:141645125-141645125 - TCGA-DK-A1AB-01 COSM420855 c.1261G>C p.E421Q Substitution - Missense 5:141645821-141645821 - TCGA-CG-4305-01 COSM3852239 c.339T>C p.G113G Substitution - coding silent 5:141649431-141649431 - 587278 COSM1206942 c.346C>T p.R116W Substitution - Missense 5:141649424-141649424 - 3N32-VS-3T32 COSM4980832 c.1886C>A p.P629H Substitution - Missense 5:141643066-141643066 - TCGA-AP-A0LM-01 COSM1063524 c.1357G>A p.G453R Substitution - Missense 5:141645103-141645103 - CSCC-40-T COSM4570721 c.310T>C p.S104P Substitution - Missense 5:141649460-141649460 - 1517_PT COSM5756587 c.1447C>T p.R483C Substitution - Missense 5:141644936-141644936 - TCGA-A3-3357-01 COSM482249 c.1090G>T p.E364* Substitution - Nonsense 5:141646146-141646146 - SH-3133 COSM5019757 c.1982A>C p.D661A Substitution - Missense 5:141641727-141641727 - HCT116 COSM3209097 c.1482G>A p.W494* Substitution - Nonsense 5:141644901-141644901 - TCGA-GI-A2C9-01 COSM3827266 c.1196C>T p.A399V Substitution - Missense 5:141645886-141645886 - TCGA-A3-3374-01 COSM1496015 c.1001G>A p.S334N Substitution - Missense 5:141646646-141646646 - SH-0348 COSM5019031 c.1073A>C p.Q358P Substitution - Missense 5:141646163-141646163 - PD6727b COSM5774858 c.807C>T p.R269R Substitution - coding silent 5:141647419-141647419 - CHEWS002 COSM4585575 c.274G>A p.A92T Substitution - Missense 5:141649496-141649496 - TARGET-20-PANLIZ-09A-02D COSM5487467 c.1268G>A p.R423Q Substitution - Missense 5:141645814-141645814 - TCGA-BR-4361-01 COSM3852237 c.1978C>A p.L660M Substitution - Missense 5:141641731-141641731 - SS6003111 COSM3965606 c.1821G>T p.L607L Substitution - coding silent 5:141644260-141644260 - SH-1641 COSM5019419 c.2042C>T p.P681L Substitution - Missense 5:141641529-141641529 - DLD1 COSM4625453 c.709C>A p.L237M Substitution - Missense 5:141647517-141647517 - TCGA-AA-3833-01 COSM271253 c.317G>A p.R106Q Substitution - Missense 5:141649453-141649453 - YUPAER COSM5402550 c.419C>T p.S140F Substitution - Missense 5:141649265-141649265 - HCC088T COSM5818319 c.1453G>A p.D485N Substitution - Missense 5:141644930-141644930 - TCGA-A8-A06X-01 COSM449009 c.1054C>T p.R352* Substitution - Nonsense 5:141646182-141646182 - YUGATOR COSM5402551 c.16C>T p.R6* Substitution - Nonsense 5:141651353-141651353 - BCM723T COSM4956240 c.1864-1G>C p.? Unknown 5:141643089-141643089 - TCGA-CD-8535-01 COSM1434744 c.954C>T p.G318G Substitution - coding silent 5:141646693-141646693 - SW948 COSM4656726 c.1683T>C p.S561S Substitution - coding silent 5:141644398-141644398 - SH-1641 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - T28 COSM5619165 c.265C>T p.L89L Substitution - coding silent 5:141649505-141649505 - ESCC_44 COSM5630156 c.577-2A>G p.? Unknown 5:141648098-141648098 - BCM723T COSM4956240 c.1864-1G>C p.? Unknown 5:141643089-141643089 - TCGA-AP-A0LM-01 COSM205304 c.808G>A p.G270R Substitution - Missense 5:141647418-141647418 - TCGA-EE-A29D-06 COSM3611761 c.2026C>T p.P676S Substitution - Missense 5:141641545-141641545 - ESCC_40 COSM5629439 c.1568A>G p.Y523C Substitution - Missense 5:141644647-141644647 - TCGA-AP-A051-01 COSM1063529 c.351C>T p.S117S Substitution - coding silent 5:141649419-141649419 - ESCC_56 COSM5632214 c.1446G>A p.G482G Substitution - coding silent 5:141644937-141644937 - Br27P COSM40080 c.1734G>A p.R578R Substitution - coding silent 5:141644347-141644347 - HCC078T COSM5806339 c.712G>T p.V238F Substitution - Missense 5:141647514-141647514 - TCGA-AG-3892-01 COSM256952 c.1565G>A p.R522Q Substitution - Missense 5:141644650-141644650 - OSCC-GB_00740111 COSM205303 c.2011C>T p.R671C Substitution - Missense 5:141641560-141641560 - KM12 COSM3209118 c.403G>T p.A135S Substitution - Missense 5:141649281-141649281 - LUAD-QCHM7 COSM377269 c.1491C>T p.V497V Substitution - coding silent 5:141644892-141644892 - 450 COSM3852240 c.309G>A p.A103A Substitution - coding silent 5:141649461-141649461 - TCGA-61-2111-01 COSM118737 c.2043G>A p.P681P Substitution - coding silent 5:141641528-141641528 - 587256 COSM1206943 c.1735G>A p.A579T Substitution - Missense 5:141644346-141644346 - CSCC-5-T COSM4500445 c.565C>T p.L189L Substitution - coding silent 5:141648968-141648968 - PT55 COSM5941965 c.758G>A p.S253N Substitution - Missense 5:141647468-141647468 - SH-5693 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - PD7249a COSM5781962 c.1423G>A p.V475M Substitution - Missense 5:141645037-141645037 - SH-4435 COSM5019507 c.1642+4A>C p.? Unknown 5:141644569-141644569 - TCGA-AM-5820-01 COSM3761010 c.1731C>T p.P577P Substitution - coding silent 5:141644350-141644350 - TCGA-BR-8487-01 COSM260920 c.437G>A p.R146Q Substitution - Missense 5:141649247-141649247 - TCGA-06-0166 COSM2150188 c.299G>A p.R100Q Substitution - Missense 5:141649471-141649471 - BN38 COSM1619762 c.49C>T p.R17C Substitution - Missense 5:141651090-141651090 - HCC103 COSM3661547 c.739G>A p.D247N Substitution - Missense 5:141647487-141647487 - SH-3327 COSM5019419 c.2042C>T p.P681L Substitution - Missense 5:141641529-141641529 - 587238 COSM1206941 c.1990G>A p.A664T Substitution - Missense 5:141641719-141641719 - TCGA-EE-A3J5-06 COSM3611764 c.706G>A p.A236T Substitution - Missense 5:141647520-141647520 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591257 5q31.3 890666|dbSNP|BC047016|A/G|non-coding||2365|Candidate; 890667|dbSNP|BC047016|C/T|non-coding||2034|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.2070+55T>G 5 141021013 RCCC A C Missense p.L233R c.698T>G 5 141027542 RCCC - AGC IntronicInsertion . c.1312-177_1312-176insGCT 5 141024891 CM A G Missense p.V309A c.926T>C 5 141026288 OV A G Missense p.W588R c.1762T>C 5 141023886 LUSC A G SpliceDonorSNV . c.512+2T>C 5 141028737 CM A G Synonymous p.G113G c.339T>C 5 141028998 STAD C A Missense p.A95S c.283G>T 5 141029054 BRCA C A Missense p.R142L c.425G>T 5 141028826 LUAD C A Missense p.S334I c.1001G>T 5 141026213 LUSC C A Nonsense p.E364* c.1090G>T 5 141025713 RCCC C G Missense p.E421Q c.1261G>C 5 141025388 BLCA C - IntronicDeletion . c.1044+14delG 5 141026156 STAD C T Missense p.A118T c.352G>A 5 141028985 LGG C T Missense p.A236T c.706G>A 5 141027087 CM C T Missense p.A320T c.958G>A 5 141026256 STAD C T Missense p.G559R c.1675G>A 5 141023973 LGG C T Missense p.R100Q c.299G>A 5 141029038 GBM C T Missense p.V418M c.1252G>A 5 141025397 CM C T Synonymous p.P681P c.2043G>A 5 141021095 OV C T Synonymous p.Q187Q c.561G>A 5 141028539 CM C T Synonymous p.R78R c.234G>A 5 141029103 AML G A IntronicSNV . c.2008-44C>T 5 141021174 CM G A Missense p.A217V c.650C>T 5 141027590 UCEC G A Missense p.H268Y c.802C>T 5 141026991 HNSC G A Nonsense p.Q131* c.391C>T 5 141028860 RCCC G A Nonsense p.R352* c.1054C>T 5 141025749 BRCA G A Synonymous p.F83F c.249C>T 5 141029088 LUSC G A Synonymous p.R578R c.1734G>A 5 141023914 GBM G A Synonymous p.T558T c.1674C>T 5 141023974 CM G A Synonymous p.V519V c.1557C>T 5 141024225 HNSC G C Missense p.S182C c.545C>G 5 141028555 LUAD T C Missense p.D176G c.527A>G 5 141028573 ESCA