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 122283309 122283309 + Silent SNP C C T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr3:122283309C>T c.36C>T c.(34-36)ctC>ctT p.L12L BLCA 3 122283456 122283456 + Silent SNP G G A TCGA-DK-AA75-01A-11D-A391-08 TCGA-DK-AA75-10A-01D-A394-08 g.chr3:122283456G>A c.183G>A c.(181-183)agG>agA p.R61R BLCA 3 122284793 122284793 + Missense_Mutation SNP C C T TCGA-E7-A7XN-01A-11D-A34U-08 TCGA-E7-A7XN-10A-01D-A34X-08 g.chr3:122284793C>T c.275C>T c.(274-276)tCa>tTa p.S92L BLCA 3 122287474 122287474 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr3:122287474G>A c.538G>A c.(538-540)Gac>Aac p.D180N BLCA 3 122287833 122287833 + Missense_Mutation SNP G G T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr3:122287833G>T c.897G>T c.(895-897)caG>caT p.Q299H BLCA 3 122288058 122288058 + Missense_Mutation SNP G G C TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr3:122288058G>C c.1122G>C c.(1120-1122)atG>atC p.M374I BLCA 3 122288121 122288121 + Missense_Mutation SNP G G C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr3:122288121G>C c.1185G>C c.(1183-1185)gaG>gaC p.E395D BLCA 3 122288566 122288566 + Missense_Mutation SNP G G A TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr3:122288566G>A c.1630G>A c.(1630-1632)Ggc>Agc p.G544S BLCA 3 122288708 122288708 + Missense_Mutation SNP C C T TCGA-G2-A2EL-01A-12D-A18F-08 TCGA-G2-A2EL-10A-01D-A18F-08 g.chr3:122288708C>T c.1772C>T c.(1771-1773)tCa>tTa p.S591L BLCA 3 122289441 122289441 + Missense_Mutation SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr3:122289441C>G c.2075C>G c.(2074-2076)tCt>tGt p.S692C BLCA 3 122289466 122289466 + Silent SNP C C T TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr3:122289466C>T c.2100C>T c.(2098-2100)gtC>gtT p.V700V BLCA 3 122289485 122289485 + Missense_Mutation SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr3:122289485C>T c.2119C>T c.(2119-2121)Cac>Tac p.H707Y BRCA 3 122284753 122284753 + Missense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:122284753G>A c.235G>A c.(235-237)Gaa>Aaa p.E79K BRCA 3 122284766 122284766 + Missense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:122284766C>A c.248C>A c.(247-249)cCc>cAc p.P83H BRCA 3 122284779 122284779 + Silent SNP A A G TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr3:122284779A>G c.261A>G c.(259-261)gtA>gtG p.V87V BRCA 3 122284843 122284843 + Missense_Mutation SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr3:122284843G>A c.325G>A c.(325-327)Gca>Aca p.A109T BRCA 3 122287715 122287715 + Missense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:122287715G>T c.779G>T c.(778-780)aGa>aTa p.R260I BRCA 3 122287953 122287953 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:122287953C>T c.1017C>T c.(1015-1017)ggC>ggT p.G339G BRCA 3 122288191 122288191 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:122288191C>T c.1255C>T c.(1255-1257)Ctg>Ttg p.L419L BRCA 3 122288505 122288505 + Silent SNP T T G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr3:122288505T>G c.1569T>G c.(1567-1569)ggT>ggG p.G523G CESC 3 122283436 122283436 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr3:122283436C>T c.163C>T c.(163-165)Cgg>Tgg p.R55W CESC 3 122284856 122284856 + Missense_Mutation SNP C C T TCGA-MU-A51Y-01A-11D-A26G-09 TCGA-MU-A51Y-10A-01D-A26G-09 g.chr3:122284856C>T c.338C>T c.(337-339)tCt>tTt p.S113F CESC 3 122287480 122287480 + Missense_Mutation SNP G G C TCGA-C5-A1M7-01A-11D-A13W-08 TCGA-C5-A1M7-10A-01D-A13W-08 g.chr3:122287480G>C c.544G>C c.(544-546)Gaa>Caa p.E182Q CESC 3 122288386 122288386 + Missense_Mutation SNP G G T TCGA-EK-A2PL-01A-11D-A18J-09 TCGA-EK-A2PL-10A-01D-A18J-09 g.chr3:122288386G>T c.1450G>T c.(1450-1452)Gtg>Ttg p.V484L COAD 3 122283440 122283440 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:122283440T>C c.167T>C c.(166-168)gTg>gCg p.V56A COAD 3 122284753 122284753 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:122284753G>A c.235G>A c.(235-237)Gaa>Aaa p.E79K COAD 3 122287562 122287562 + Missense_Mutation SNP A A G TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr3:122287562A>G c.626A>G c.(625-627)aAg>aGg p.K209R COAD 3 122287838 122287838 + Missense_Mutation SNP A A T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr3:122287838A>T c.902A>T c.(901-903)aAc>aTc p.N301I COAD 3 122287978 122287978 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:122287978G>T c.1042G>T c.(1042-1044)Gat>Tat p.D348Y COAD 3 122287985 122287985 + Missense_Mutation SNP T T A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:122287985T>A c.1049T>A c.(1048-1050)aTt>aAt p.I350N COAD 3 122287985 122287985 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:122287985T>C c.1049T>C c.(1048-1050)aTt>aCt p.I350T COAD 3 122287985 122287985 + Missense_Mutation SNP T T C TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr3:122287985T>C c.1049T>C c.(1048-1050)aTt>aCt p.I350T COAD 3 122287985 122287985 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:122287985T>C c.1049T>C c.(1048-1050)aTt>aCt p.I350T COAD 3 122288468 122288468 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:122288468G>A c.1532G>A c.(1531-1533)gGa>gAa p.G511E COAD 3 122288682 122288682 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:122288682C>T c.1746C>T c.(1744-1746)tgC>tgT p.C582C COADREAD 3 122283440 122283440 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr3:122283440T>C c.167T>C c.(166-168)gTg>gCg p.V56A COADREAD 3 122284753 122284753 + Missense_Mutation SNP G G A TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr3:122284753G>A c.235G>A c.(235-237)Gaa>Aaa p.E79K COADREAD 3 122287438 122287438 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:122287438C>T c.502C>T c.(502-504)Cac>Tac p.H168Y COADREAD 3 122287562 122287562 + Missense_Mutation SNP A A G TCGA-CK-5912-01A-11D-1650-10 TCGA-CK-5912-10A-01D-1650-10 g.chr3:122287562A>G c.626A>G c.(625-627)aAg>aGg p.K209R COADREAD 3 122287838 122287838 + Missense_Mutation SNP A A T TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr3:122287838A>T c.902A>T c.(901-903)aAc>aTc p.N301I COADREAD 3 122287978 122287978 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr3:122287978G>T c.1042G>T c.(1042-1044)Gat>Tat p.D348Y COADREAD 3 122287985 122287985 + Missense_Mutation SNP T T A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:122287985T>A c.1049T>A c.(1048-1050)aTt>aAt p.I350N COADREAD 3 122287985 122287985 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr3:122287985T>C c.1049T>C c.(1048-1050)aTt>aCt p.I350T COADREAD 3 122287985 122287985 + Missense_Mutation SNP T T C TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr3:122287985T>C c.1049T>C c.(1048-1050)aTt>aCt p.I350T COADREAD 3 122287985 122287985 + Missense_Mutation SNP T T C TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr3:122287985T>C c.1049T>C c.(1048-1050)aTt>aCt p.I350T COADREAD 3 122288468 122288468 + Missense_Mutation SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:122288468G>A c.1532G>A c.(1531-1533)gGa>gAa p.G511E COADREAD 3 122288682 122288682 + Silent SNP C C T TCGA-G4-6304-01A-11D-1924-10 TCGA-G4-6304-10A-01D-1924-10 g.chr3:122288682C>T c.1746C>T c.(1744-1746)tgC>tgT p.C582C DLBC 3 122288257 122288257 + Missense_Mutation SNP T T A TCGA-GS-A9TZ-01A-11D-A38X-10 TCGA-GS-A9TZ-10A-01D-A38X-10 g.chr3:122288257T>A c.1321T>A c.(1321-1323)Ttt>Att p.F441I DLBC 3 122288596 122288596 + Missense_Mutation SNP G G C TCGA-GS-A9TW-01A-11D-A382-10 TCGA-GS-A9TW-10A-01D-A385-10 g.chr3:122288596G>C c.1660G>C c.(1660-1662)Gac>Cac p.D554H ESCA 3 122284880 122284880 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr3:122284880G>T c.362G>T c.(361-363)gGa>gTa p.G121V ESCA 3 122288127 122288127 + Silent SNP A A G TCGA-L5-A8NR-01A-11D-A37C-09 TCGA-L5-A8NR-11A-11D-A37F-09 g.chr3:122288127A>G c.1191A>G c.(1189-1191)tcA>tcG p.S397S ESCA 3 122289345 122289345 + Missense_Mutation SNP G G A TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr3:122289345G>A c.1979G>A c.(1978-1980)cGa>cAa p.R660Q GBM 3 122289489 122289489 + Missense_Mutation SNP A A G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr3:122289489A>G c.2123A>G c.(2122-2124)cAc>cGc p.H708R GBMLGG 3 122287567 122287567 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:122287567C>T c.631C>T c.(631-633)Ctc>Ttc p.L211F GBMLGG 3 122287626 122287626 + Silent SNP A A G TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 g.chr3:122287626A>G c.690A>G c.(688-690)gaA>gaG p.E230E GBMLGG 3 122289445 122289445 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:122289445C>T c.2079C>T c.(2077-2079)cgC>cgT p.R693R GBMLGG 3 122289489 122289489 + Missense_Mutation SNP A A G TCGA-06-0213-01A-01D-1491-08 TCGA-06-0213-10A-01D-1491-08 g.chr3:122289489A>G c.2123A>G c.(2122-2124)cAc>cGc p.H708R HNSC 3 122287599 122287599 + Silent SNP T T A TCGA-CN-4731-01A-01D-1434-08 TCGA-CN-4731-10A-01D-1434-08 g.chr3:122287599T>A c.663T>A c.(661-663)tcT>tcA p.S221S HNSC 3 122287708 122287708 + Missense_Mutation SNP G G C TCGA-CV-5970-01A-11D-1683-08 TCGA-CV-5970-10A-01D-1870-08 g.chr3:122287708G>C c.772G>C c.(772-774)Gag>Cag p.E258Q HNSC 3 122288166 122288166 + Silent SNP T T C TCGA-CV-A468-01A-11D-A25Y-08 TCGA-CV-A468-10A-01D-A25Y-08 g.chr3:122288166T>C c.1230T>C c.(1228-1230)tcT>tcC p.S410S HNSC 3 122288293 122288293 + Missense_Mutation SNP C C G TCGA-CQ-7071-01A-12D-A30E-08 TCGA-CQ-7071-10A-01D-A30H-08 g.chr3:122288293C>G c.1357C>G c.(1357-1359)Ctt>Gtt p.L453V KIPAN 3 122283388 122283388 + Missense_Mutation SNP G G T TCGA-B9-4117-01A-01D-1252-08 TCGA-B9-4117-10A-01D-1252-08 g.chr3:122283388G>T c.115G>T c.(115-117)Ggg>Tgg p.G39W KIPAN 3 122289368 122289371 + Frame_Shift_Del DEL AAGG AAGG - TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 g.chr3:122289368_122289371delAAGG c.2002_2005delAAGG c.(2002-2007)aaggaafs p.KE668fs KIRC 3 122289368 122289371 + Frame_Shift_Del DEL AAGG AAGG - TCGA-BP-4994-01A-01D-1462-08 TCGA-BP-4994-11A-01D-1462-08 g.chr3:122289368_122289371delAAGG c.2002_2005delAAGG c.(2002-2007)aaggaafs p.KE668fs KIRP 3 122283388 122283388 + Missense_Mutation SNP G G T TCGA-B9-4117-01A-01D-1252-08 TCGA-B9-4117-10A-01D-1252-08 g.chr3:122283388G>T c.115G>T c.(115-117)Ggg>Tgg p.G39W LGG 3 122287567 122287567 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:122287567C>T c.631C>T c.(631-633)Ctc>Ttc p.L211F LGG 3 122287626 122287626 + Silent SNP A A G TCGA-DU-A7TB-01A-11D-A33T-08 TCGA-DU-A7TB-10A-01D-A33W-08 g.chr3:122287626A>G c.690A>G c.(688-690)gaA>gaG p.E230E LGG 3 122289445 122289445 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:122289445C>T c.2079C>T c.(2077-2079)cgC>cgT p.R693R LIHC 3 122284754 122284754 + Frame_Shift_Del DEL A A - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr3:122284754delA c.236delA c.(235-237)gaafs p.E79fs LIHC 3 122284854 122284854 + Silent SNP G G A TCGA-DD-AACJ-01A-11D-A40R-10 TCGA-DD-AACJ-10A-01D-A40U-10 g.chr3:122284854G>A c.336G>A c.(334-336)ccG>ccA p.P112P LIHC 3 122288501 122288501 + Missense_Mutation SNP A A T TCGA-MI-A75C-01A-11D-A32G-10 TCGA-MI-A75C-10A-01D-A32G-10 g.chr3:122288501A>T c.1565A>T c.(1564-1566)gAg>gTg p.E522V LUAD 3 122284747 122284747 + Missense_Mutation SNP G G A TCGA-95-7562-01A-11D-2238-08 TCGA-95-7562-10B-01D-2238-08 g.chr3:122284747G>A c.229G>A c.(229-231)Gtt>Att p.V77I LUAD 3 122287753 122287753 + Missense_Mutation SNP A A C TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr3:122287753A>C c.817A>C c.(817-819)Aat>Cat p.N273H LUAD 3 122287986 122287986 + Silent SNP T T A TCGA-50-5049-01A-01D-1625-08 TCGA-50-5049-10A-01D-1625-08 g.chr3:122287986T>A c.1050T>A c.(1048-1050)atT>atA p.I350I LUAD 3 122289337 122289337 + Silent SNP A A G TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr3:122289337A>G c.1971A>G c.(1969-1971)ggA>ggG p.G657G LUAD 3 122289383 122289383 + Missense_Mutation SNP G G A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:122289383G>A c.2017G>A c.(2017-2019)Gtt>Att p.V673I LUSC 3 122284753 122284753 + Missense_Mutation SNP G G A TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr3:122284753G>A c.235G>A c.(235-237)Gaa>Aaa p.E79K LUSC 3 122284830 122284830 + Silent SNP G G C TCGA-18-4086-01A-01D-1352-08 TCGA-18-4086-11A-01D-1352-08 g.chr3:122284830G>C c.312G>C c.(310-312)ctG>ctC p.L104L LUSC 3 122287797 122287797 + Silent SNP G G A TCGA-33-4533-01A-01D-1267-08 TCGA-33-4533-11A-01D-1267-08 g.chr3:122287797G>A c.861G>A c.(859-861)ctG>ctA p.L287L LUSC 3 122287849 122287849 + Silent SNP C C T TCGA-39-5035-01A-01D-1441-08 TCGA-39-5035-11A-01D-1441-08 g.chr3:122287849C>T c.913C>T c.(913-915)Ctg>Ttg p.L305L LUSC 3 122287963 122287963 + Missense_Mutation SNP C C T TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr3:122287963C>T c.1027C>T c.(1027-1029)Ctc>Ttc p.L343F LUSC 3 122288682 122288682 + Silent SNP C C T TCGA-18-3414-01A-01D-0983-08 TCGA-18-3414-11A-01D-0983-08 g.chr3:122288682C>T c.1746C>T c.(1744-1746)tgC>tgT p.C582C LUSC 3 122288791 122288791 + Missense_Mutation SNP G G A TCGA-66-2754-01A-01D-0983-08 TCGA-66-2754-11A-01D-0983-08 g.chr3:122288791G>A c.1855G>A c.(1855-1857)Gtt>Att p.V619I OV 3 122283302 122283302 + Missense_Mutation SNP C C T TCGA-29-1775-01A-01W-0639-09 TCGA-29-1775-10A-01W-0639-09 g.chr3:122283302C>T c.29C>T c.(28-30)cCg>cTg p.P10L OV 3 122287634 122287634 + Missense_Mutation SNP G G C TCGA-24-1843-01A-01W-0639-09 TCGA-24-1843-10A-01W-0639-09 g.chr3:122287634G>C c.698G>C c.(697-699)aGc>aCc p.S233T OV 3 122287985 122287985 + Missense_Mutation SNP T T A TCGA-24-1418-01A-01W-0549-09 TCGA-24-1418-10A-01W-0549-09 g.chr3:122287985T>A c.1049T>A c.(1048-1050)aTt>aAt p.I350N OV 3 122288092 122288092 + Missense_Mutation SNP A A C TCGA-13-0897-01A-01W-0421-09 TCGA-13-0897-10A-01W-0421-09 g.chr3:122288092A>C c.1156A>C c.(1156-1158)Aaa>Caa p.K386Q OV 3 122288593 122288593 + Silent SNP C C T TCGA-04-1652-01A-01W-0639-09 TCGA-04-1652-11A-01W-0639-09 g.chr3:122288593C>T c.1657C>T c.(1657-1659)Ctg>Ttg p.L553L PAAD 3 122288313 122288313 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:122288313C>T c.1377C>T c.(1375-1377)ggC>ggT p.G459G PRAD 3 122283293 122283293 + Missense_Mutation SNP C C T TCGA-KC-A7F6-01A-11D-A33T-08 TCGA-KC-A7F6-10A-01D-A33W-08 g.chr3:122283293C>T c.20C>T c.(19-21)cCg>cTg p.P7L PRAD 3 122287807 122287807 + Missense_Mutation SNP C C T TCGA-G9-A9S7-01A-11D-A41K-08 TCGA-G9-A9S7-10A-01D-A41N-08 g.chr3:122287807C>T c.871C>T c.(871-873)Cgt>Tgt p.R291C READ 3 122287438 122287438 + Missense_Mutation SNP C C T TCGA-EI-6507-01A-11D-1733-10 TCGA-EI-6507-10A-01D-1733-10 g.chr3:122287438C>T c.502C>T c.(502-504)Cac>Tac p.H168Y SKCM 3 122283299 122283299 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:122283299C>T c.26C>T c.(25-27)tCc>tTc p.S9F SKCM 3 122283300 122283300 + Silent SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:122283300C>T c.27C>T c.(25-27)tcC>tcT p.S9S SKCM 3 122287651 122287651 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr3:122287651C>T c.715C>T c.(715-717)Ccc>Tcc p.P239S SKCM 3 122287933 122287933 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr3:122287933C>T c.997C>T c.(997-999)Ctt>Ttt p.L333F SKCM 3 122287963 122287963 + Missense_Mutation SNP C C T TCGA-ER-A1A1-06A-11D-A197-08 TCGA-ER-A1A1-10A-01D-A199-08 g.chr3:122287963C>T c.1027C>T c.(1027-1029)Ctc>Ttc p.L343F SKCM 3 122289444 122289444 + Missense_Mutation SNP G G T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr3:122289444G>T c.2078G>T c.(2077-2079)cGc>cTc p.R693L SKCM 3 122290533 122290533 + Missense_Mutation SNP A A C TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:122290533A>C c.2162A>C c.(2161-2163)tAt>tCt p.Y721S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 3 122279449 122279449 single base substitution G T upstream_gene_variant BRCA-EU 3 122280751 122280751 single base substitution C A upstream_gene_variant BRCA-EU 3 122281297 122281297 single base substitution C A upstream_gene_variant BRCA-EU 3 122282595 122282595 single base substitution G C upstream_gene_variant BRCA-EU 3 122283877 122283883 deletion of <=200bp TGATATA - intron_variant BRCA-EU 3 122284596 122284596 single base substitution C A intron_variant BRCA-EU 3 122284830 122284830 single base substitution G A synonymous_variant L104L 312G>A BRCA-EU 3 122285615 122285615 single base substitution C T intron_variant BRCA-EU 3 122285749 122285749 single base substitution C T intron_variant BRCA-EU 3 122286103 122286103 single base substitution G C intron_variant BRCA-EU 3 122286828 122286828 single base substitution G C intron_variant BRCA-EU 3 122288077 122288077 single base substitution G C intron_variant BRCA-EU 3 122288077 122288077 single base substitution G C missense_variant D381H 1141G>C BRCA-EU 3 122288107 122288107 single base substitution G C intron_variant BRCA-EU 3 122288107 122288107 single base substitution G C missense_variant E391Q 1171G>C BRCA-EU 3 122288966 122288966 single base substitution C T intron_variant BRCA-EU 3 122289988 122289988 single base substitution C A intron_variant BRCA-EU 3 122291459 122291459 single base substitution C A 3_prime_UTR_variant BRCA-EU 3 122291459 122291459 single base substitution C A downstream_gene_variant BRCA-EU 3 122291471 122291471 single base substitution C G 3_prime_UTR_variant BRCA-EU 3 122291471 122291471 single base substitution C G downstream_gene_variant BRCA-EU 3 122293774 122293774 single base substitution A T 3_prime_UTR_variant BRCA-EU 3 122293774 122293774 single base substitution A T downstream_gene_variant BRCA-EU 3 122294072 122294072 insertion of <=200bp - T downstream_gene_variant BRCA-EU 3 122294317 122294317 single base substitution C A downstream_gene_variant BRCA-EU 3 122294554 122294554 single base substitution G C downstream_gene_variant BRCA-EU 3 122295509 122295509 single base substitution G T downstream_gene_variant BRCA-EU 3 122296195 122296195 single base substitution A T downstream_gene_variant BRCA-EU 3 122296631 122296631 single base substitution G A downstream_gene_variant BRCA-EU 3 122296650 122296650 single base substitution G C downstream_gene_variant BRCA-EU 3 122296700 122296700 single base substitution G A downstream_gene_variant BRCA-EU 3 122296900 122296900 single base substitution T G downstream_gene_variant BRCA-EU 3 122296901 122296901 single base substitution T G downstream_gene_variant BRCA-EU 3 122297535 122297535 single base substitution T A downstream_gene_variant BRCA-EU 3 122298115 122298130 deletion of <=200bp TATATATGAGGTTTAC - downstream_gene_variant BRCA-EU 3 122298448 122298458 deletion of <=200bp ACTAATTTGCT - downstream_gene_variant BRCA-EU 3 122298905 122298905 single base substitution C G downstream_gene_variant BRCA-FR 3 122281193 122281193 single base substitution C A upstream_gene_variant BRCA-FR 3 122282595 122282595 single base substitution G C upstream_gene_variant BRCA-FR 3 122286828 122286828 single base substitution G C intron_variant BRCA-FR 3 122288077 122288077 single base substitution G C intron_variant BRCA-FR 3 122288077 122288077 single base substitution G C missense_variant D381H 1141G>C BRCA-FR 3 122288107 122288107 single base substitution G C intron_variant BRCA-FR 3 122288107 122288107 single base substitution G C missense_variant E391Q 1171G>C BRCA-UK 3 122287690 122287690 single base substitution G A intron_variant BRCA-UK 3 122287690 122287690 single base substitution G A missense_variant D252N 754G>A BRCA-UK 3 122291948 122291948 single base substitution G C 3_prime_UTR_variant BRCA-UK 3 122291948 122291948 single base substitution G C downstream_gene_variant BRCA-UK 3 122291966 122291966 single base substitution G C 3_prime_UTR_variant BRCA-UK 3 122291966 122291966 single base substitution G C downstream_gene_variant BRCA-UK 3 122294554 122294554 single base substitution G C downstream_gene_variant BRCA-US 3 122284753 122284753 single base substitution G A missense_variant E79K 235G>A BRCA-US 3 122284766 122284766 single base substitution C A missense_variant P83H 248C>A BRCA-US 3 122284779 122284779 single base substitution A G synonymous_variant V87V 261A>G BRCA-US 3 122284843 122284843 single base substitution G A missense_variant A109T 325G>A BRCA-US 3 122287715 122287715 single base substitution G T intron_variant BRCA-US 3 122287715 122287715 single base substitution G T missense_variant R260I 779G>T BRCA-US 3 122287953 122287953 single base substitution C T intron_variant BRCA-US 3 122287953 122287953 single base substitution C T synonymous_variant G339G 1017C>T BRCA-US 3 122288191 122288191 single base substitution C T intron_variant BRCA-US 3 122288191 122288191 single base substitution C T synonymous_variant L419L 1255C>T BRCA-US 3 122288505 122288505 single base substitution T G intron_variant BRCA-US 3 122288505 122288505 single base substitution T G synonymous_variant G523G 1569T>G BRCA-US 3 122296641 122296641 single base substitution C T downstream_gene_variant BRCA-US 3 122296675 122296675 single base substitution C T downstream_gene_variant BTCA-JP 3 122283341 122283341 single base substitution G C missense_variant R23P 68G>C BTCA-JP 3 122283366 122283366 single base substitution G C missense_variant Q31H 93G>C BTCA-JP 3 122287502 122287502 single base substitution G A intron_variant BTCA-JP 3 122287502 122287502 single base substitution G A missense_variant S189N 566G>A BTCA-JP 3 122288960 122288960 single base substitution G T intron_variant CESC-US 3 122283436 122283436 single base substitution C T missense_variant R55W 163C>T CESC-US 3 122284856 122284856 single base substitution C T missense_variant S113F 338C>T CESC-US 3 122287480 122287480 single base substitution G C intron_variant CESC-US 3 122287480 122287480 single base substitution G C missense_variant E182Q 544G>C CESC-US 3 122288386 122288386 single base substitution G T intron_variant CESC-US 3 122288386 122288386 single base substitution G T missense_variant V484L 1450G>T COAD-US 3 122287838 122287838 single base substitution A T intron_variant COAD-US 3 122287838 122287838 single base substitution A T missense_variant N301I 902A>T COAD-US 3 122288682 122288682 single base substitution C T intron_variant COAD-US 3 122288682 122288682 single base substitution C T synonymous_variant C582C 1746C>T COCA-CN 3 122288134 122288134 single base substitution G A intron_variant COCA-CN 3 122288134 122288134 single base substitution G A missense_variant E400K 1198G>A COCA-CN 3 122290483 122290483 single base substitution G A intron_variant EOPC-DE 3 122296396 122296396 single base substitution T A downstream_gene_variant ESAD-UK 3 122279231 122279231 single base substitution T G upstream_gene_variant ESAD-UK 3 122280507 122280507 single base substitution G C upstream_gene_variant ESAD-UK 3 122282247 122282247 deletion of <=200bp A - upstream_gene_variant ESAD-UK 3 122283967 122283967 deletion of <=200bp T - intron_variant ESAD-UK 3 122289537 122289537 single base substitution T C intron_variant ESAD-UK 3 122294190 122294190 single base substitution G T downstream_gene_variant ESAD-UK 3 122295994 122295994 single base substitution A G downstream_gene_variant ESAD-UK 3 122296106 122296106 single base substitution G A downstream_gene_variant ESAD-UK 3 122296901 122296901 single base substitution T G downstream_gene_variant ESAD-UK 3 122297287 122297287 insertion of <=200bp - T downstream_gene_variant ESAD-UK 3 122297436 122297436 single base substitution C T downstream_gene_variant ESAD-UK 3 122298255 122298255 single base substitution T G downstream_gene_variant GBM-US 3 122289489 122289489 single base substitution A G missense_variant H196R 587A>G GBM-US 3 122289489 122289489 single base substitution A G missense_variant H708R 2123A>G LAML-KR 3 122290557 122290557 single base substitution G A missense_variant R217H 650G>A LAML-KR 3 122290557 122290557 single base substitution G A missense_variant R729H 2186G>A LIAD-FR 3 122287476 122287476 single base substitution C T intron_variant LIAD-FR 3 122287476 122287476 single base substitution C T synonymous_variant D180D 540C>T LIAD-FR 3 122296647 122296647 single base substitution G A downstream_gene_variant LICA-FR 3 122287476 122287476 single base substitution C T intron_variant LICA-FR 3 122287476 122287476 single base substitution C T synonymous_variant D180D 540C>T LICA-FR 3 122287481 122287481 insertion of <=200bp - AAAGA frameshift_variant E182ER? LICA-FR 3 122287481 122287481 insertion of <=200bp - AAAGA intron_variant LIHC-US 3 122287562 122287562 single base substitution A G intron_variant LIHC-US 3 122287562 122287562 single base substitution A G missense_variant K209R 626A>G LIHC-US 3 122288722 122288722 single base substitution T C intron_variant LIHC-US 3 122288722 122288722 single base substitution T C missense_variant C596R 1786T>C LINC-JP 3 122285225 122285225 single base substitution T C intron_variant LINC-JP 3 122287756 122287756 single base substitution A G intron_variant LINC-JP 3 122287756 122287756 single base substitution A G missense_variant M274V 820A>G LINC-JP 3 122288575 122288575 single base substitution A T intron_variant LINC-JP 3 122288575 122288575 single base substitution A T missense_variant S547C 1639A>T LINC-JP 3 122293858 122293858 single base substitution A T 3_prime_UTR_variant LINC-JP 3 122293858 122293858 single base substitution A T downstream_gene_variant LIRI-JP 3 122278592 122278592 single base substitution G C upstream_gene_variant LIRI-JP 3 122279640 122279640 single base substitution T C upstream_gene_variant LIRI-JP 3 122280019 122280019 single base substitution C T upstream_gene_variant LIRI-JP 3 122281135 122281135 single base substitution T C upstream_gene_variant LIRI-JP 3 122281426 122281426 single base substitution T C upstream_gene_variant LIRI-JP 3 122282483 122282483 single base substitution C G upstream_gene_variant LIRI-JP 3 122289650 122289650 single base substitution A T intron_variant LIRI-JP 3 122290188 122290188 single base substitution A G intron_variant LIRI-JP 3 122291148 122291148 deletion of <=200bp G - 3_prime_UTR_variant LIRI-JP 3 122291148 122291148 deletion of <=200bp G - downstream_gene_variant LIRI-JP 3 122292166 122292166 single base substitution G C 3_prime_UTR_variant LIRI-JP 3 122292166 122292166 single base substitution G C downstream_gene_variant LIRI-JP 3 122293731 122293731 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 122293731 122293731 single base substitution C A downstream_gene_variant LIRI-JP 3 122295009 122295009 single base substitution C G downstream_gene_variant LIRI-JP 3 122295804 122295804 single base substitution C T downstream_gene_variant LIRI-JP 3 122296035 122296035 single base substitution T C downstream_gene_variant LIRI-JP 3 122296315 122296315 single base substitution A G downstream_gene_variant LUSC-KR 3 122283202 122283202 single base substitution C A 5_prime_UTR_variant LUSC-KR 3 122283202 122283202 single base substitution C A upstream_gene_variant LUSC-KR 3 122286278 122286278 single base substitution G T intron_variant LUSC-KR 3 122290375 122290375 single base substitution G T intron_variant LUSC-KR 3 122290800 122290800 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 122290800 122290800 single base substitution C T downstream_gene_variant LUSC-KR 3 122292837 122292837 single base substitution A C 3_prime_UTR_variant LUSC-KR 3 122292837 122292837 single base substitution A C downstream_gene_variant LUSC-KR 3 122292965 122292965 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 122292965 122292965 single base substitution G A downstream_gene_variant LUSC-KR 3 122293209 122293209 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 122293209 122293209 single base substitution C T downstream_gene_variant LUSC-KR 3 122296638 122296638 single base substitution G A downstream_gene_variant LUSC-KR 3 122297454 122297454 single base substitution A G downstream_gene_variant LUSC-KR 3 122297769 122297769 single base substitution T A downstream_gene_variant LUSC-US 3 122284753 122284753 single base substitution G A missense_variant E79K 235G>A LUSC-US 3 122284830 122284830 single base substitution G C synonymous_variant L104L 312G>C LUSC-US 3 122287797 122287797 single base substitution G A intron_variant LUSC-US 3 122287797 122287797 single base substitution G A synonymous_variant L287L 861G>A LUSC-US 3 122287849 122287849 single base substitution C T intron_variant LUSC-US 3 122287849 122287849 single base substitution C T synonymous_variant L305L 913C>T LUSC-US 3 122287963 122287963 single base substitution C T intron_variant LUSC-US 3 122287963 122287963 single base substitution C T missense_variant L343F 1027C>T LUSC-US 3 122288682 122288682 single base substitution C T intron_variant LUSC-US 3 122288682 122288682 single base substitution C T synonymous_variant C582C 1746C>T LUSC-US 3 122288791 122288791 single base substitution G A intron_variant LUSC-US 3 122288791 122288791 single base substitution G A missense_variant V619I 1855G>A MALY-DE 3 122283280 122283280 single base substitution T A missense_variant S3T 7T>A MELA-AU 3 122278099 122278099 single base substitution G A upstream_gene_variant MELA-AU 3 122278167 122278167 single base substitution C T upstream_gene_variant MELA-AU 3 122279688 122279688 single base substitution G A upstream_gene_variant MELA-AU 3 122279788 122279788 single base substitution A G upstream_gene_variant MELA-AU 3 122279849 122279849 single base substitution A T upstream_gene_variant MELA-AU 3 122280111 122280111 single base substitution A G upstream_gene_variant MELA-AU 3 122281093 122281093 single base substitution G A upstream_gene_variant MELA-AU 3 122282347 122282347 single base substitution C T upstream_gene_variant MELA-AU 3 122283704 122283704 single base substitution C A intron_variant MELA-AU 3 122284637 122284637 single base substitution G A intron_variant MELA-AU 3 122285065 122285065 single base substitution G A intron_variant MELA-AU 3 122285252 122285252 single base substitution C T intron_variant MELA-AU 3 122286675 122286675 single base substitution C T intron_variant MELA-AU 3 122287321 122287321 single base substitution C T intron_variant MELA-AU 3 122287933 122287933 single base substitution C T intron_variant MELA-AU 3 122287933 122287933 single base substitution C T missense_variant L333F 997C>T MELA-AU 3 122288823 122288823 single base substitution C T intron_variant MELA-AU 3 122288823 122288823 single base substitution C T synonymous_variant S629S 1887C>T MELA-AU 3 122289528 122289528 single base substitution C T intron_variant MELA-AU 3 122289845 122289845 single base substitution C T intron_variant MELA-AU 3 122289872 122289872 single base substitution C T intron_variant MELA-AU 3 122290995 122290995 single base substitution C T 3_prime_UTR_variant MELA-AU 3 122290995 122290995 single base substitution C T downstream_gene_variant MELA-AU 3 122292318 122292318 single base substitution C A 3_prime_UTR_variant MELA-AU 3 122292318 122292318 single base substitution C A downstream_gene_variant MELA-AU 3 122292416 122292416 single base substitution C T 3_prime_UTR_variant MELA-AU 3 122292416 122292416 single base substitution C T downstream_gene_variant MELA-AU 3 122294009 122294009 single base substitution C T 3_prime_UTR_variant MELA-AU 3 122294009 122294009 single base substitution C T downstream_gene_variant MELA-AU 3 122294746 122294746 single base substitution A G downstream_gene_variant MELA-AU 3 122295283 122295283 single base substitution G A downstream_gene_variant MELA-AU 3 122295726 122295726 single base substitution C T downstream_gene_variant MELA-AU 3 122295978 122295978 single base substitution C T downstream_gene_variant MELA-AU 3 122296457 122296457 single base substitution G A downstream_gene_variant MELA-AU 3 122296536 122296536 single base substitution C T downstream_gene_variant MELA-AU 3 122296580 122296580 single base substitution T G downstream_gene_variant MELA-AU 3 122296687 122296687 single base substitution C T downstream_gene_variant MELA-AU 3 122296855 122296855 single base substitution G A downstream_gene_variant MELA-AU 3 122297742 122297742 single base substitution G A downstream_gene_variant MELA-AU 3 122298638 122298638 single base substitution G A downstream_gene_variant MELA-AU 3 122298934 122298934 single base substitution G A downstream_gene_variant OV-AU 3 122278767 122278767 single base substitution T G upstream_gene_variant OV-AU 3 122281666 122281666 single base substitution A G upstream_gene_variant OV-AU 3 122283050 122283050 single base substitution G C upstream_gene_variant OV-AU 3 122283057 122283057 single base substitution G T upstream_gene_variant OV-AU 3 122285189 122285189 single base substitution G A intron_variant OV-AU 3 122286723 122286723 single base substitution C T intron_variant OV-AU 3 122291921 122291921 single base substitution G C 3_prime_UTR_variant OV-AU 3 122291921 122291921 single base substitution G C downstream_gene_variant OV-AU 3 122292635 122292635 single base substitution T C 3_prime_UTR_variant OV-AU 3 122292635 122292635 single base substitution T C downstream_gene_variant OV-US 3 122287985 122287985 single base substitution T A intron_variant OV-US 3 122287985 122287985 single base substitution T A missense_variant I350N 1049T>A OV-US 3 122288092 122288092 single base substitution A C intron_variant OV-US 3 122288092 122288092 single base substitution A C missense_variant K386Q 1156A>C PACA-AU 3 122281004 122281008 deletion of <=200bp TCTTT - upstream_gene_variant PACA-AU 3 122283247 122283253 deletion of <=200bp CCCCGCG - 5_prime_UTR_variant PACA-AU 3 122283247 122283253 deletion of <=200bp CCCCGCG - upstream_gene_variant PACA-AU 3 122286678 122286678 single base substitution G A intron_variant PACA-AU 3 122287158 122287158 insertion of <=200bp - AAAT intron_variant PACA-AU 3 122296715 122296715 single base substitution G A downstream_gene_variant PACA-AU 3 122296902 122296902 single base substitution T G downstream_gene_variant PACA-CA 3 122284854 122284854 single base substitution G A synonymous_variant P112P 336G>A PACA-CA 3 122287275 122287275 single base substitution G C intron_variant PACA-CA 3 122287627 122287627 insertion of <=200bp - A frameshift_variant Q231T? PACA-CA 3 122287627 122287627 insertion of <=200bp - A intron_variant PAEN-IT 3 122295711 122295711 single base substitution A T downstream_gene_variant PRAD-CA 3 122288423 122288423 single base substitution C T intron_variant PRAD-CA 3 122288423 122288423 single base substitution C T missense_variant P496L 1487C>T PRAD-CA 3 122298854 122298854 single base substitution A G downstream_gene_variant PRAD-UK 3 122293210 122293233 deletion of <=200bp GGTTCTTCAAGTCAGATTAAAGTA - 3_prime_UTR_variant PRAD-UK 3 122293210 122293233 deletion of <=200bp GGTTCTTCAAGTCAGATTAAAGTA - downstream_gene_variant PRAD-UK 3 122293233 122293233 single base substitution A C 3_prime_UTR_variant PRAD-UK 3 122293233 122293233 single base substitution A C downstream_gene_variant PRAD-UK 3 122297227 122297227 single base substitution T G downstream_gene_variant READ-US 3 122287438 122287438 single base substitution C T intron_variant READ-US 3 122287438 122287438 single base substitution C T missense_variant H168Y 502C>T READ-US 3 122296663 122296663 single base substitution C T downstream_gene_variant SKCA-BR 3 122278796 122278796 single base substitution G A upstream_gene_variant SKCA-BR 3 122278796 122278796 single base substitution G C upstream_gene_variant SKCA-BR 3 122279687 122279687 single base substitution G A upstream_gene_variant SKCA-BR 3 122280328 122280328 single base substitution A C upstream_gene_variant SKCA-BR 3 122281005 122281005 insertion of <=200bp - CTTTTCTT upstream_gene_variant SKCA-BR 3 122289931 122289931 single base substitution A T intron_variant SKCA-BR 3 122290102 122290102 insertion of <=200bp - GC intron_variant SKCA-BR 3 122291448 122291448 single base substitution G T 3_prime_UTR_variant SKCA-BR 3 122291448 122291448 single base substitution G T downstream_gene_variant SKCA-BR 3 122294754 122294754 single base substitution T C downstream_gene_variant SKCA-BR 3 122297032 122297032 single base substitution G A downstream_gene_variant SKCA-BR 3 122297167 122297167 single base substitution G A downstream_gene_variant SKCA-BR 3 122297442 122297445 deletion of <=200bp TTCA - downstream_gene_variant SKCM-US 3 122287651 122287651 single base substitution C T intron_variant SKCM-US 3 122287651 122287651 single base substitution C T missense_variant P239S 715C>T SKCM-US 3 122287933 122287933 single base substitution C T intron_variant SKCM-US 3 122287933 122287933 single base substitution C T missense_variant L333F 997C>T SKCM-US 3 122287963 122287963 single base substitution C T intron_variant SKCM-US 3 122287963 122287963 single base substitution C T missense_variant L343F 1027C>T SKCM-US 3 122289444 122289444 single base substitution G T missense_variant R181L 542G>T SKCM-US 3 122289444 122289444 single base substitution G T missense_variant R693L 2078G>T SKCM-US 3 122289499 122289499 single base substitution C T synonymous_variant S199S 597C>T SKCM-US 3 122289499 122289499 single base substitution C T synonymous_variant S711S 2133C>T SKCM-US 3 122290533 122290533 single base substitution A C missense_variant Y209S 626A>C SKCM-US 3 122290533 122290533 single base substitution A C missense_variant Y721S 2162A>C STAD-US 3 122284875 122284875 single base substitution T C synonymous_variant H119H 357T>C STAD-US 3 122287953 122287953 single base substitution C T intron_variant STAD-US 3 122287953 122287953 single base substitution C T synonymous_variant G339G 1017C>T STAD-US 3 122288531 122288531 single base substitution G A intron_variant STAD-US 3 122288531 122288531 single base substitution G A missense_variant S532N 1595G>A STAD-US 3 122288550 122288550 single base substitution T C intron_variant STAD-US 3 122288550 122288550 single base substitution T C synonymous_variant A538A 1614T>C STAD-US 3 122289345 122289345 single base substitution G A missense_variant R148Q 443G>A STAD-US 3 122289345 122289345 single base substitution G A missense_variant R660Q 1979G>A STAD-US 3 122289427 122289427 single base substitution T C synonymous_variant F175F 525T>C STAD-US 3 122289427 122289427 single base substitution T C synonymous_variant F687F 2061T>C THCA-SA 3 122287775 122287775 single base substitution C T intron_variant THCA-SA 3 122287775 122287775 single base substitution C T missense_variant T280I 839C>T THCA-SA 3 122290800 122290800 single base substitution C T 3_prime_UTR_variant THCA-SA 3 122290800 122290800 single base substitution C T downstream_gene_variant UCEC-US 3 122287407 122287407 single base substitution A G intron_variant UCEC-US 3 122287407 122287407 single base substitution A G synonymous_variant T157T 471A>G UCEC-US 3 122287435 122287435 single base substitution G T intron_variant UCEC-US 3 122287435 122287435 single base substitution G T missense_variant G167C 499G>T UCEC-US 3 122287506 122287506 single base substitution G A intron_variant UCEC-US 3 122287506 122287506 single base substitution G A synonymous_variant E190E 570G>A UCEC-US 3 122287740 122287740 single base substitution G A intron_variant UCEC-US 3 122287740 122287740 single base substitution G A synonymous_variant Q268Q 804G>A UCEC-US 3 122287954 122287954 single base substitution G A intron_variant UCEC-US 3 122287954 122287954 single base substitution G A missense_variant E340K 1018G>A UCEC-US 3 122288250 122288250 single base substitution C T intron_variant UCEC-US 3 122288250 122288250 single base substitution C T synonymous_variant I438I 1314C>T UCEC-US 3 122288287 122288287 single base substitution G T intron_variant UCEC-US 3 122288287 122288287 single base substitution G T stop_gained E451* 1351G>T UCEC-US 3 122288441 122288441 single base substitution C T intron_variant UCEC-US 3 122288441 122288441 single base substitution C T missense_variant A502V 1505C>T UCEC-US 3 122288533 122288533 single base substitution G A intron_variant UCEC-US 3 122288533 122288533 single base substitution G A missense_variant D533N 1597G>A UCEC-US 3 122289345 122289345 single base substitution G A missense_variant R148Q 443G>A UCEC-US 3 122289345 122289345 single base substitution G A missense_variant R660Q 1979G>A UCEC-US 3 122289371 122289371 single base substitution G A missense_variant E157K 469G>A UCEC-US 3 122289371 122289371 single base substitution G A missense_variant E669K 2005G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand S01512 COSM310751 c.1935_1935+3delAGTA p.? Unknown 3:122570024-122570027 + WA56 COSM239660 c.22C>T p.P8S Substitution - Missense 3:122564448-122564448 + HN_62646 COSM127850 c.1104A>C p.L368L Substitution - coding silent 3:122569193-122569193 + LUAD-5V8LT COSM402343 c.716C>T p.P239L Substitution - Missense 3:122568805-122568805 + TCGA-AN-A046-01 COSM202969 c.235G>A p.E79K Substitution - Missense 3:122565906-122565906 + TCGA-EE-A29E-06 COSM3586319 c.2078G>T p.R693L Substitution - Missense 3:122570597-122570597 + S01542 COSM202969 c.235G>A p.E79K Substitution - Missense 3:122565906-122565906 + HCC85T COSM1616802 c.1639A>T p.S547C Substitution - Missense 3:122569728-122569728 + TCGA-D8-A1JA-01 COSM3845999 c.1569T>G p.G523G Substitution - coding silent 3:122569658-122569658 + CHOL13 COSM1743214 c.542T>C p.I181T Substitution - Missense 3:122568631-122568631 + C086 COSM5530249 c.1029C>T p.L343L Substitution - coding silent 3:122569118-122569118 + TCGA-18-3414-01 COSM727870 c.1746C>T p.C582C Substitution - coding silent 3:122569835-122569835 + TCGA-66-2766-01 COSM202969 c.235G>A p.E79K Substitution - Missense 3:122565906-122565906 + TCGA-IH-A3EA-01 COSM3586320 c.2133C>T p.S711S Substitution - coding silent 3:122570652-122570652 + 254 COSM3731472 c.1104A>G p.L368L Substitution - coding silent 3:122569193-122569193 + TCGA-18-4086-01 COSM727874 c.312G>C p.L104L Substitution - coding silent 3:122565983-122565983 + TCGA-24-1843-01 COSM1327932 c.698G>C p.S233T Substitution - Missense 3:122568787-122568787 + TCGA-G4-6304-01 COSM727870 c.1746C>T p.C582C Substitution - coding silent 3:122569835-122569835 + SNUH_G26_S1 COSM3682926 c.2208C>A p.A736A Substitution - coding silent 3:122571732-122571732 + Pat_65_A COSM5863327 c.2135G>A p.R712Q Substitution - Missense 3:122570654-122570654 + TCGA-AP-A0LE-01 COSM1037169 c.804G>A p.Q268Q Substitution - coding silent 3:122568893-122568893 + TCGA-AP-A051-01 COSM1037171 c.1351G>T p.E451* Substitution - Nonsense 3:122569440-122569440 + PTC-28C COSM4157181 c.839C>T p.T280I Substitution - Missense 3:122568928-122568928 + 2492721 COSM5720122 c.275C>T p.S92L Substitution - Missense 3:122565946-122565946 + L25 COSM5369673 c.2153+1G>A p.? Unknown 3:122570673-122570673 + 12-P616 COSM4583854 c.467C>T p.T156I Substitution - Missense 3:122568556-122568556 + HCC85 COSM1616802 c.1639A>T p.S547C Substitution - Missense 3:122569728-122569728 + TCGA-BR-4257-01 COSM4112760 c.1595G>A p.S532N Substitution - Missense 3:122569684-122569684 + CHC464T COSM3669073 c.540C>T p.D180D Substitution - coding silent 3:122568629-122568629 + HCC98 COSM3660129 c.820A>G p.M274V Substitution - Missense 3:122568909-122568909 + YUKLAB COSM1693325 c.535C>T p.Q179* Substitution - Nonsense 3:122568624-122568624 + I2L-P19Ta-Tumor-Biopsy COSM5355209 c.1573G>T p.E525* Substitution - Nonsense 3:122569662-122569662 + HCC2998 COSM3121482 c.1066A>C p.K356Q Substitution - Missense 3:122569155-122569155 + 2492729 COSM5727567 c.519G>A p.K173K Substitution - coding silent 3:122568608-122568608 + TCGA-AN-A046-01 COSM3845996 c.779G>T p.R260I Substitution - Missense 3:122568868-122568868 + TCGA-39-5035-01 COSM727872 c.913C>T p.L305L Substitution - coding silent 3:122569002-122569002 + YUGURT COSM5397947 c.139G>A p.E47K Substitution - Missense 3:122564565-122564565 + PCSI_0593_Pa_P_526 COSM5760951 c.336G>A p.P112P Substitution - coding silent 3:122566007-122566007 + SNUH_G76_S1 COSM4416842 c.2208C>T p.A736A Substitution - coding silent 3:122571732-122571732 + PD4131a COSM160610 c.754G>A p.D252N Substitution - Missense 3:122568843-122568843 + HCC1937 COSM33022 c.627G>C p.K209N Substitution - Missense 3:122568716-122568716 + TCGA-AC-A23H-01 COSM3845998 c.1255C>T p.L419L Substitution - coding silent 3:122569344-122569344 + CHC1616T COSM5348726 c.545_546insAAAGA p.R183fs*8 Insertion - Frameshift 3:122568634-122568635 + Pat_41_B COSM5863326 c.155G>A p.G52D Substitution - Missense 3:122564581-122564581 + TCGA-ER-A193-06 COSM3586321 c.2162A>C p.Y721S Substitution - Missense 3:122571686-122571686 + TCGA-AP-A051-01 COSM1037167 c.499G>T p.G167C Substitution - Missense 3:122568588-122568588 + 2492720 COSM5720122 c.275C>T p.S92L Substitution - Missense 3:122565946-122565946 + LOVO COSM202969 c.235G>A p.E79K Substitution - Missense 3:122565906-122565906 + CN-AML-CR-47-Dx COSM5428330 c.2186G>A p.R729H Substitution - Missense 3:122571710-122571710 + ESCC_143 COSM5644321 c.1338T>C p.C446C Substitution - coding silent 3:122569427-122569427 + TCGA-BR-4257-01 COSM4112762 c.2061T>C p.F687F Substitution - coding silent 3:122570580-122570580 + TCGA-HU-A4GH-01 COSM4112761 c.1614T>C p.A538A Substitution - coding silent 3:122569703-122569703 + TCGA-B5-A11E-01 COSM1037170 c.1314C>T p.I438I Substitution - coding silent 3:122569403-122569403 + PA285 COSM1163323 c.941A>G p.D314G Substitution - Missense 3:122569030-122569030 + ODG8 COSM5731309 c.1621C>A p.P541T Substitution - Missense 3:122569710-122569710 + CHC465T COSM3669073 c.540C>T p.D180D Substitution - coding silent 3:122568629-122568629 + 587376 COSM1204684 c.1357C>A p.L453I Substitution - Missense 3:122569446-122569446 + T3724 COSM4679622 c.56_57insC p.R21fs*14 Insertion - Frameshift 3:122564482-122564483 + 46M COSM5587682 c.2164C>T p.P722S Substitution - Missense 3:122571688-122571688 + BD114T COSM5502772 c.566G>A p.S189N Substitution - Missense 3:122568655-122568655 + 041T COSM1729351 c.289A>C p.T97P Substitution - Missense 3:122565960-122565960 + sysucc-311T COSM5465693 c.1198G>A p.E400K Substitution - Missense 3:122569287-122569287 + TCGA-66-2754-01 COSM727869 c.1855G>A p.V619I Substitution - Missense 3:122569944-122569944 + 2492723 COSM5720122 c.275C>T p.S92L Substitution - Missense 3:122565946-122565946 + TCGA-AN-A0AK-01 COSM3845994 c.261A>G p.V87V Substitution - coding silent 3:122565932-122565932 + LS174T COSM3121489 c.1552A>G p.K518E Substitution - Missense 3:122569641-122569641 + CCK81 COSM3121492 c.1711delA p.V573fs*62 Deletion - Frameshift 3:122569800-122569800 + TCGA-BH-A0HF-01 COSM3845995 c.325G>A p.A109T Substitution - Missense 3:122565996-122565996 + S00841 COSM317266 c.1625T>C p.L542P Substitution - Missense 3:122569714-122569714 + TCGA-AP-A054-01 COSM1037166 c.471A>G p.T157T Substitution - coding silent 3:122568560-122568560 + S01512 COSM310751 c.1935_1935+3delAGTA p.? Unknown 3:122570024-122570027 + TCGA-AX-A0J1-01 COSM1037173 c.1505C>T p.A502V Substitution - Missense 3:122569594-122569594 + TCGA-60-2713-01 COSM727871 c.1027C>T p.L343F Substitution - Missense 3:122569116-122569116 + 388 COSM4427457 c.815C>T p.P272L Substitution - Missense 3:122568904-122568904 + I2L-P19Ta-Tumor-Organoid COSM5355209 c.1573G>T p.E525* Substitution - Nonsense 3:122569662-122569662 + TCGA-29-1775-01 COSM1327933 c.29C>T p.P10L Substitution - Missense 3:122564455-122564455 + 113364 COSM94146 c.541A>G p.I181V Substitution - Missense 3:122568630-122568630 + 61 COSM5736729 c.2078G>A p.R693H Substitution - Missense 3:122570597-122570597 + TCGA-24-1418-01 COSM74458 c.1049T>A p.I350N Substitution - Missense 3:122569138-122569138 + YUOMEGA COSM5397950 c.2087G>A p.G696E Substitution - Missense 3:122570606-122570606 + T55 COSM376400 c.1018G>A p.E340K Substitution - Missense 3:122569107-122569107 + TCGA-FW-A3R5-06 COSM3914726 c.715C>T p.P239S Substitution - Missense 3:122568804-122568804 + MO_1074 COSM5550218 c.1765G>A p.A589T Substitution - Missense 3:122569854-122569854 + TCGA-B5-A11E-01 COSM1037174 c.1597G>A p.D533N Substitution - Missense 3:122569686-122569686 + TCGA-BR-8078-01 COSM1037176 c.1979G>A p.R660Q Substitution - Missense 3:122570498-122570498 + CPCG0047-F1 COSM4880170 c.1487C>T p.P496L Substitution - Missense 3:122569576-122569576 + LUAD_E01319 COSM392823 c.762delC p.N255fs*3 Deletion - Frameshift 3:122568851-122568851 + S00022 COSM5656505 c.2144G>A p.G715E Substitution - Missense 3:122570663-122570663 + CSCC-56-T COSM4458108 c.1071C>T p.I357I Substitution - coding silent 3:122569160-122569160 + LUAD-NYU802 COSM376400 c.1018G>A p.E340K Substitution - Missense 3:122569107-122569107 + TCGA-DM-A1D4-01 COSM1418279 c.902A>T p.N301I Substitution - Missense 3:122568991-122568991 + TCGA-13-0897-01 COSM74459 c.1156A>C p.K386Q Substitution - Missense 3:122569245-122569245 + TCGA-AN-A046-01 COSM3845993 c.248C>A p.P83H Substitution - Missense 3:122565919-122565919 + 3206A7_009_T COSM5042863 c.1652C>T p.S551L Substitution - Missense 3:122569741-122569741 + tumor_4144951 COSM5948810 c.7T>A p.S3T Substitution - Missense 3:122564433-122564433 + TCGA-EK-A2PL-01 COSM4838434 c.1450G>T p.V484L Substitution - Missense 3:122569539-122569539 + S00841 COSM317266 c.1625T>C p.L542P Substitution - Missense 3:122569714-122569714 + TCGA-19-1790 COSM2157760 c.1548_1549insG p.K519fs*7 Insertion - Frameshift 3:122569637-122569638 + TCGA-AN-A046-01 COSM3845997 c.1017C>T p.G339G Substitution - coding silent 3:122569106-122569106 + TCGA-33-4533-01 COSM727873 c.861G>A p.L287L Substitution - coding silent 3:122568950-122568950 + TCGA-EE-A2MD-06 COSM3586317 c.997C>T p.L333F Substitution - Missense 3:122569086-122569086 + TCGA-ER-A1A1-06 COSM727871 c.1027C>T p.L343F Substitution - Missense 3:122569116-122569116 + TCGA-AA-A010-01 COSM280656 c.1042G>T p.D348Y Substitution - Missense 3:122569131-122569131 + CSCC-7-T COSM4468407 c.1541C>T p.S514L Substitution - Missense 3:122569630-122569630 + 587376 COSM1037176 c.1979G>A p.R660Q Substitution - Missense 3:122570498-122570498 + TCGA-BR-6452-01 COSM3845997 c.1017C>T p.G339G Substitution - coding silent 3:122569106-122569106 + 2492722 COSM5720122 c.275C>T p.S92L Substitution - Missense 3:122565946-122565946 + TCGA-04-1652-01 COSM1327931 c.1657C>T p.L553L Substitution - coding silent 3:122569746-122569746 + 587220 COSM1204683 c.665C>T p.P222L Substitution - Missense 3:122568754-122568754 + I2L-P10-Tumor-Organoid COSM1037176 c.1979G>A p.R660Q Substitution - Missense 3:122570498-122570498 + PD9000a COSM5775592 c.312G>A p.L104L Substitution - coding silent 3:122565983-122565983 + SC_9059 COSM5552096 c.1045G>A p.D349N Substitution - Missense 3:122569134-122569134 + TCGA-D1-A160-01 COSM1037177 c.2005G>A p.E669K Substitution - Missense 3:122570524-122570524 + HCC98T COSM3660129 c.820A>G p.M274V Substitution - Missense 3:122568909-122568909 + TCGA-06-0213 COSM2150825 c.2123A>G p.H708R Substitution - Missense 3:122570642-122570642 + TCGA-D1-A16Y-01 COSM1037176 c.1979G>A p.R660Q Substitution - Missense 3:122570498-122570498 + LUAD-E00918 COSM365249 c.150C>T p.A50A Substitution - coding silent 3:122564576-122564576 + TCGA-DD-A116-01 COSM1418278 c.626A>G p.K209R Substitution - Missense 3:122568715-122568715 + TCGA-EK-A2PM-01 COSM4831389 c.163C>T p.R55W Substitution - Missense 3:122564589-122564589 + CSCC-31-T COSM4475156 c.1965C>T p.Y655Y Substitution - coding silent 3:122570484-122570484 + LUAD_E00565 COSM389462 c.1803T>A p.T601T Substitution - coding silent 3:122569892-122569892 + PAPNNX COSM5004653 c.2154-6C>T p.? Unknown 3:122571672-122571672 + TCGA-AP-A059-01 COSM1037168 c.570G>A p.E190E Substitution - coding silent 3:122568659-122568659 + TCGA-06-0213-01 COSM2150825 c.2123A>G p.H708R Substitution - Missense 3:122570642-122570642 + CHC465T COSM3669073 c.540C>T p.D180D Substitution - coding silent 3:122568629-122568629 + TCGA-BR-7703-01 COSM4112759 c.357T>C p.H119H Substitution - coding silent 3:122566028-122566028 + LS180 COSM3121489 c.1552A>G p.K518E Substitution - Missense 3:122569641-122569641 + TCGA-EI-6507-01 COSM1566312 c.502C>T p.H168Y Substitution - Missense 3:122568591-122568591 + TCGA-B5-A0K7-01 COSM1037172 c.1432C>T p.H478Y Substitution - Missense 3:122569521-122569521 + TCGA-BS-A0UF-01 COSM376400 c.1018G>A p.E340K Substitution - Missense 3:122569107-122569107 + TCGA-BC-A10Q-01 COSM4927692 c.1786T>C p.C596R Substitution - Missense 3:122569875-122569875 + TCGA-MU-A51Y-01 COSM4836394 c.338C>T p.S113F Substitution - Missense 3:122566009-122566009 + TCGA-G2-A2EL-01 COSM1308470 c.1772C>T p.S591L Substitution - Missense 3:122569861-122569861 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.518201 3q21.1 613143 249219|dbSNP|BC042191|C/T|non-coding||2492|Validated; 249289|dbSNP|BC042191|C/T|non-coding||2499|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K386Q c.1156A>C 3 122288092 OV A C Missense p.Y721S c.2162A>C 3 122290533 CM A C Synonymous p.L368L c.1104A>C 3 122288040 HNSC A G Missense p.H708R c.2123A>G 3 122289489 GBM A G Synonymous p.T157T c.471A>G 3 122287407 UCEC C T Missense p.L333F c.997C>T 3 122287933 CM C T Missense p.L343F c.1027C>T 3 122287963 CM C T Missense p.L343F c.1027C>T 3 122287963 LUSC C T Missense p.S351L c.1052C>T 3 122287988 CM C T Missense p.S591L c.1772C>T 3 122288708 BLCA C T Synonymous p.C582C c.1746C>T 3 122288682 LUSC C T Synonymous p.L305L c.913C>T 3 122287849 LUSC C T Synonymous p.S711S c.2133C>T 3 122289499 CM G - 3-UTRDeletion . c.2220+556delT 3 122291147 HC G A Missense p.C175Y c.524G>A 3 122287460 STAD G A Missense p.D252N c.754G>A 3 122287690 BRCA G A Missense p.E669K c.2005G>A 3 122289371 UCEC G A Missense p.E79K c.235G>A 3 122284753 LUSC G A Missense p.R660Q c.1979G>A 3 122289345 UCEC G A Missense p.R671K c.2012G>A 3 122289378 CM G A Missense p.S532N c.1595G>A 3 122288531 STAD G A Missense p.V619I c.1855G>A 3 122288791 LUSC G A Synonymous p.L287L c.861G>A 3 122287797 LUSC G A Synonymous p.Q268Q c.804G>A 3 122287740 UCEC G C 3-UTRSNV . c.2220+1575G>C 3 122292166 HC G C Missense p.E258Q c.772G>C 3 122287708 HNSC G C Missense p.K209N c.627G>C 3 122287563 BRCA G C Synonymous p.L104L c.312G>C 3 122284830 LUSC T A Missense p.I350N c.1049T>A 3 122287985 OV T A Synonymous p.I350I c.1050T>A 3 122287986 LUAD T A Synonymous p.S221S c.663T>A 3 122287599 HNSC T C Missense p.L542P c.1625T>C 3 122288561 SCLC T C Synonymous p.F687F c.2061T>C 3 122289427 STAD