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 23 13337355 13337355 + Silent SNP A A C TCGA-E7-A85H-01A-11D-A34U-08 TCGA-E7-A85H-10B-01D-A34X-08 g.chrX:13337355A>C c.699T>G c.(697-699)ctT>ctG p.L233L BLCA 23 13337636 13337636 + Missense_Mutation SNP G G T TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chrX:13337636G>T c.418C>A c.(418-420)Cca>Aca p.P140T BLCA 23 13337763 13337763 + Silent SNP A A T TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chrX:13337763A>T c.291T>A c.(289-291)ccT>ccA p.P97P BLCA 23 13338041 13338041 + Missense_Mutation SNP A A C TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chrX:13338041A>C c.13T>G c.(13-15)Ttt>Gtt p.F5V BRCA 23 13337012 13337012 + Missense_Mutation SNP T T A TCGA-A7-A0CG-01A-11W-A019-09 TCGA-A7-A0CG-10A-01W-A021-09 g.chrX:13337012T>A c.1042A>T c.(1042-1044)Aat>Tat p.N348Y BRCA 23 13337695 13337695 + Missense_Mutation SNP C C A TCGA-C8-A12K-01A-21D-A10Y-09 TCGA-C8-A12K-10A-01D-A110-09 g.chrX:13337695C>A c.359G>T c.(358-360)tGg>tTg p.W120L BRCA 23 13337899 13337899 + Missense_Mutation SNP C C T TCGA-AC-A3YJ-01A-11D-A22X-09 TCGA-AC-A3YJ-10A-01D-A22X-09 g.chrX:13337899C>T c.155G>A c.(154-156)gGa>gAa p.G52E CESC 23 13337013 13337013 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:13337013C>A c.1041G>T c.(1039-1041)aaG>aaT p.K347N CESC 23 13337060 13337060 + Missense_Mutation SNP C C G TCGA-IR-A3LH-01A-21D-A20U-09 TCGA-IR-A3LH-10A-01D-A20U-09 g.chrX:13337060C>G c.994G>C c.(994-996)Ggc>Cgc p.G332R CESC 23 13337277 13337277 + Silent SNP G G A TCGA-C5-A2M2-01A-21D-A18J-09 TCGA-C5-A2M2-10A-01D-A18J-09 g.chrX:13337277G>A c.777C>T c.(775-777)tcC>tcT p.S259S CESC 23 13337277 13337277 + Silent SNP G G A TCGA-DS-A5RQ-01A-11D-A28B-09 TCGA-DS-A5RQ-10A-01D-A28E-09 g.chrX:13337277G>A c.777C>T c.(775-777)tcC>tcT p.S259S CESC 23 13337387 13337387 + Missense_Mutation SNP C C G TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chrX:13337387C>G c.667G>C c.(667-669)Gac>Cac p.D223H COAD 23 13337101 13337101 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:13337101G>A c.953C>T c.(952-954)tCg>tTg p.S318L COAD 23 13337119 13337119 + Missense_Mutation SNP T T C TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chrX:13337119T>C c.935A>G c.(934-936)gAa>gGa p.E312G COAD 23 13337119 13337119 + Missense_Mutation SNP T T C TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chrX:13337119T>C c.935A>G c.(934-936)gAa>gGa p.E312G COAD 23 13337120 13337120 + Nonsense_Mutation SNP C C A TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chrX:13337120C>A c.934G>T c.(934-936)Gaa>Taa p.E312* COAD 23 13337285 13337285 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:13337285C>A c.769G>T c.(769-771)Ggt>Tgt p.G257C COAD 23 13337344 13337344 + Missense_Mutation SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chrX:13337344C>T c.710G>A c.(709-711)cGc>cAc p.R237H COAD 23 13337345 13337345 + Missense_Mutation SNP G G T TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chrX:13337345G>T c.709C>A c.(709-711)Cgc>Agc p.R237S COAD 23 13337468 13337468 + Missense_Mutation SNP A A T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:13337468A>T c.586T>A c.(586-588)Tta>Ata p.L196I COAD 23 13337469 13337469 + Frame_Shift_Del DEL T T - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:13337469delT c.585delA c.(583-585)aaafs p.K195fs COAD 23 13337505 13337505 + Silent SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:13337505G>A c.549C>T c.(547-549)gtC>gtT p.V183V COAD 23 13337512 13337512 + Missense_Mutation SNP A A G TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chrX:13337512A>G c.542T>C c.(541-543)aTc>aCc p.I181T COAD 23 13337512 13337512 + Missense_Mutation SNP A A G TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chrX:13337512A>G c.542T>C c.(541-543)aTc>aCc p.I181T COAD 23 13337513 13337513 + Missense_Mutation SNP T T A TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chrX:13337513T>A c.541A>T c.(541-543)Atc>Ttc p.I181F COAD 23 13337513 13337513 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chrX:13337513T>C c.541A>G c.(541-543)Atc>Gtc p.I181V COAD 23 13337617 13337617 + Missense_Mutation SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chrX:13337617G>A c.437C>T c.(436-438)aCa>aTa p.T146I COAD 23 13337617 13337617 + Missense_Mutation SNP G G T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:13337617G>T c.437C>A c.(436-438)aCa>aAa p.T146K COAD 23 13337618 13337618 + Missense_Mutation SNP T T C TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chrX:13337618T>C c.436A>G c.(436-438)Aca>Gca p.T146A COAD 23 13337699 13337699 + Missense_Mutation SNP G G C TCGA-AA-3818-01A-01W-0900-09 TCGA-AA-3818-10A-01W-0900-09 g.chrX:13337699G>C c.355C>G c.(355-357)Cac>Gac p.H119D COAD 23 13337915 13337915 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chrX:13337915T>C c.139A>G c.(139-141)Aga>Gga p.R47G COADREAD 23 13337039 13337039 + Missense_Mutation SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chrX:13337039C>T c.1015G>A c.(1015-1017)Gac>Aac p.D339N COADREAD 23 13337101 13337101 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chrX:13337101G>A c.953C>T c.(952-954)tCg>tTg p.S318L COADREAD 23 13337119 13337119 + Missense_Mutation SNP T T C TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chrX:13337119T>C c.935A>G c.(934-936)gAa>gGa p.E312G COADREAD 23 13337119 13337119 + Missense_Mutation SNP T T C TCGA-F4-6809-01A-11D-1835-10 TCGA-F4-6809-10A-01D-1835-10 g.chrX:13337119T>C c.935A>G c.(934-936)gAa>gGa p.E312G COADREAD 23 13337120 13337120 + Nonsense_Mutation SNP C C A TCGA-DM-A1HA-01A-11D-A152-10 TCGA-DM-A1HA-10A-01D-A152-10 g.chrX:13337120C>A c.934G>T c.(934-936)Gaa>Taa p.E312* COADREAD 23 13337285 13337285 + Missense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chrX:13337285C>A c.769G>T c.(769-771)Ggt>Tgt p.G257C COADREAD 23 13337344 13337344 + Missense_Mutation SNP C C T TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chrX:13337344C>T c.710G>A c.(709-711)cGc>cAc p.R237H COADREAD 23 13337345 13337345 + Missense_Mutation SNP G G T TCGA-D5-6536-01A-11D-1719-10 TCGA-D5-6536-10A-01D-1719-10 g.chrX:13337345G>T c.709C>A c.(709-711)Cgc>Agc p.R237S COADREAD 23 13337468 13337468 + Missense_Mutation SNP A A T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chrX:13337468A>T c.586T>A c.(586-588)Tta>Ata p.L196I COADREAD 23 13337469 13337469 + Frame_Shift_Del DEL T T - TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chrX:13337469delT c.585delA c.(583-585)aaafs p.K195fs COADREAD 23 13337505 13337505 + Silent SNP G G A TCGA-CK-4952-01A-01D-1719-10 TCGA-CK-4952-10A-01D-1719-10 g.chrX:13337505G>A c.549C>T c.(547-549)gtC>gtT p.V183V COADREAD 23 13337512 13337512 + Missense_Mutation SNP A A G TCGA-A6-2671-01A-01D-1408-10 TCGA-A6-2671-10A-01D-1408-10 g.chrX:13337512A>G c.542T>C c.(541-543)aTc>aCc p.I181T COADREAD 23 13337512 13337512 + Missense_Mutation SNP A A G TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chrX:13337512A>G c.542T>C c.(541-543)aTc>aCc p.I181T COADREAD 23 13337513 13337513 + Missense_Mutation SNP T T A TCGA-CM-6166-01A-11D-1650-10 TCGA-CM-6166-10A-01D-1650-10 g.chrX:13337513T>A c.541A>T c.(541-543)Atc>Ttc p.I181F COADREAD 23 13337513 13337513 + Missense_Mutation SNP T T C TCGA-CM-5348-01A-21D-1719-10 TCGA-CM-5348-10A-01D-1719-10 g.chrX:13337513T>C c.541A>G c.(541-543)Atc>Gtc p.I181V COADREAD 23 13337601 13337601 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:13337601G>T c.453C>A c.(451-453)ttC>ttA p.F151L COADREAD 23 13337616 13337616 + Silent SNP T T C TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chrX:13337616T>C c.438A>G c.(436-438)acA>acG p.T146T COADREAD 23 13337617 13337617 + Missense_Mutation SNP G G A TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chrX:13337617G>A c.437C>T c.(436-438)aCa>aTa p.T146I COADREAD 23 13337617 13337617 + Missense_Mutation SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chrX:13337617G>A c.437C>T c.(436-438)aCa>aTa p.T146I COADREAD 23 13337617 13337617 + Missense_Mutation SNP G G T TCGA-G4-6293-01A-11D-1719-10 TCGA-G4-6293-10A-01D-1719-10 g.chrX:13337617G>T c.437C>A c.(436-438)aCa>aAa p.T146K COADREAD 23 13337618 13337618 + Missense_Mutation SNP T T C TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chrX:13337618T>C c.436A>G c.(436-438)Aca>Gca p.T146A COADREAD 23 13337699 13337699 + Missense_Mutation SNP G G C TCGA-AA-3818-01A-01W-0900-09 TCGA-AA-3818-10A-01W-0900-09 g.chrX:13337699G>C c.355C>G c.(355-357)Cac>Gac p.H119D COADREAD 23 13337915 13337915 + Missense_Mutation SNP T T C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chrX:13337915T>C c.139A>G c.(139-141)Aga>Gga p.R47G GBMLGG 23 13337542 13337542 + Missense_Mutation SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chrX:13337542T>C c.512A>G c.(511-513)gAc>gGc p.D171G HNSC 23 13337468 13337469 + Frame_Shift_Ins INS - - T TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chrX:13337468_13337469insT c.585_586insA c.(583-588)aaattafs p.L196fs HNSC 23 13337979 13337979 + Silent SNP T T C TCGA-CV-A6JU-01A-11D-A31L-08 TCGA-CV-A6JU-10A-01D-A31J-08 g.chrX:13337979T>C c.75A>G c.(73-75)ggA>ggG p.G25G KICH 23 13337345 13337345 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chrX:13337345G>A c.709C>T c.(709-711)Cgc>Tgc p.R237C KIPAN 23 13337247 13337248 + Frame_Shift_Del DEL TG TG - TCGA-BQ-5892-01A-11D-1589-08 TCGA-BQ-5892-11A-01D-1589-08 g.chrX:13337247_13337248delTG c.806_807delCA c.(805-807)acafs p.T269fs KIPAN 23 13337345 13337345 + Missense_Mutation SNP G G A TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chrX:13337345G>A c.709C>T c.(709-711)Cgc>Tgc p.R237C KIRP 23 13337247 13337248 + Frame_Shift_Del DEL TG TG - TCGA-BQ-5892-01A-11D-1589-08 TCGA-BQ-5892-11A-01D-1589-08 g.chrX:13337247_13337248delTG c.806_807delCA c.(805-807)acafs p.T269fs LGG 23 13337542 13337542 + Missense_Mutation SNP T T C TCGA-DU-8168-01A-11D-2253-08 TCGA-DU-8168-10A-01D-2253-08 g.chrX:13337542T>C c.512A>G c.(511-513)gAc>gGc p.D171G LIHC 23 13337139 13337139 + Silent SNP G G T TCGA-DD-A1EB-01A-11D-A12Z-10 TCGA-DD-A1EB-10A-01D-A12Z-10 g.chrX:13337139G>T c.915C>A c.(913-915)ggC>ggA p.G305G LUAD 23 13337040 13337040 + Silent SNP G G T TCGA-78-7220-01A-11D-2036-08 TCGA-78-7220-10A-01D-2036-08 g.chrX:13337040G>T c.1014C>A c.(1012-1014)gtC>gtA p.V338V LUAD 23 13337046 13337046 + Silent SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chrX:13337046G>T c.1008C>A c.(1006-1008)gcC>gcA p.A336A LUAD 23 13337276 13337276 + Nonsense_Mutation SNP C C A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chrX:13337276C>A c.778G>T c.(778-780)Gga>Tga p.G260* LUAD 23 13337312 13337312 + Missense_Mutation SNP G G C TCGA-MP-A4T7-01A-11D-A24P-08 TCGA-MP-A4T7-10A-01D-A24P-08 g.chrX:13337312G>C c.742C>G c.(742-744)Cgc>Ggc p.R248G LUAD 23 13337344 13337344 + Missense_Mutation SNP C C A TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chrX:13337344C>A c.710G>T c.(709-711)cGc>cTc p.R237L LUAD 23 13337381 13337381 + Missense_Mutation SNP C C G TCGA-73-7498-01A-12D-2184-08 TCGA-73-7498-10A-01D-2184-08 g.chrX:13337381C>G c.673G>C c.(673-675)Gat>Cat p.D225H LUAD 23 13337384 13337384 + Missense_Mutation SNP G G T TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chrX:13337384G>T c.670C>A c.(670-672)Caa>Aaa p.Q224K LUAD 23 13337398 13337398 + Missense_Mutation SNP G G T TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chrX:13337398G>T c.656C>A c.(655-657)tCt>tAt p.S219Y LUAD 23 13337402 13337402 + Missense_Mutation SNP C C G TCGA-49-4490-01A-21D-1855-08 TCGA-49-4490-11A-01D-1855-08 g.chrX:13337402C>G c.652G>C c.(652-654)Gag>Cag p.E218Q LUAD 23 13337405 13337405 + Missense_Mutation SNP C C T TCGA-91-A4BC-01A-11D-A24D-08 TCGA-91-A4BC-10A-01D-A24F-08 g.chrX:13337405C>T c.649G>A c.(649-651)Gat>Aat p.D217N LUAD 23 13337469 13337469 + Frame_Shift_Del DEL T T - TCGA-97-7553-01A-21D-2036-08 TCGA-97-7553-10A-01D-2036-08 g.chrX:13337469delT c.585delA c.(583-585)aaafs p.K195fs LUAD 23 13337594 13337594 + Silent SNP G G T TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chrX:13337594G>T c.460C>A c.(460-462)Cga>Aga p.R154R LUSC 23 13337077 13337077 + Missense_Mutation SNP C C G TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chrX:13337077C>G c.977G>C c.(976-978)aGt>aCt p.S326T LUSC 23 13337087 13337087 + Missense_Mutation SNP T T C TCGA-34-5240-01A-01D-1441-08 TCGA-34-5240-10A-01D-1441-08 g.chrX:13337087T>C c.967A>G c.(967-969)Agt>Ggt p.S323G LUSC 23 13337109 13337109 + Silent SNP T T C TCGA-34-5929-01A-11D-1817-08 TCGA-34-5929-11A-01D-1817-08 g.chrX:13337109T>C c.945A>G c.(943-945)acA>acG p.T315T LUSC 23 13337594 13337594 + Nonsense_Mutation SNP G G A TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chrX:13337594G>A c.460C>T c.(460-462)Cga>Tga p.R154* OV 23 13337344 13337344 + Missense_Mutation SNP C C T TCGA-13-1489-01A-01W-0549-09 TCGA-13-1489-10A-01W-0549-09 g.chrX:13337344C>T c.710G>A c.(709-711)cGc>cAc p.R237H OV 23 13337616 13337616 + Silent SNP T T G TCGA-13-0791-01A-01W-0372-09 TCGA-13-0791-10A-01W-0372-09 g.chrX:13337616T>G c.438A>C c.(436-438)acA>acC p.T146T OV 23 13337978 13337978 + Missense_Mutation SNP C C G TCGA-24-1847-01A-01W-0633-09 TCGA-24-1847-10A-01W-0634-09 g.chrX:13337978C>G c.76G>C c.(76-78)Gaa>Caa p.E26Q PRAD 23 13337265 13337265 + Silent SNP C C T TCGA-EJ-5518-01A-01D-1576-08 TCGA-EJ-5518-10A-01D-1577-08 g.chrX:13337265C>T c.789G>A c.(787-789)tcG>tcA p.S263S READ 23 13337039 13337039 + Missense_Mutation SNP C C T TCGA-AG-4015-01A-01W-1073-09 TCGA-AG-4015-10A-01W-1073-09 g.chrX:13337039C>T c.1015G>A c.(1015-1017)Gac>Aac p.D339N READ 23 13337601 13337601 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:13337601G>T c.453C>A c.(451-453)ttC>ttA p.F151L READ 23 13337616 13337616 + Silent SNP T T C TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chrX:13337616T>C c.438A>G c.(436-438)acA>acG p.T146T READ 23 13337617 13337617 + Missense_Mutation SNP G G A TCGA-F5-6465-01A-11D-1733-10 TCGA-F5-6465-10A-01D-1733-10 g.chrX:13337617G>A c.437C>T c.(436-438)aCa>aTa p.T146I SARC 23 13337121 13337121 + Silent SNP G G A TCGA-IW-A3M6-01A-11D-A21Q-09 TCGA-IW-A3M6-10A-01D-A21Q-09 g.chrX:13337121G>A c.933C>T c.(931-933)caC>caT p.H311H SKCM 23 13337192 13337192 + Missense_Mutation SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chrX:13337192C>T c.862G>A c.(862-864)Gaa>Aaa p.E288K SKCM 23 13337352 13337352 + Silent SNP T T C TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chrX:13337352T>C c.702A>G c.(700-702)gaA>gaG p.E234E SKCM 23 13337902 13337902 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chrX:13337902C>T c.152G>A c.(151-153)gGa>gAa p.G51E SKCM 23 13338045 13338045 + Silent SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chrX:13338045G>A c.9C>T c.(7-9)ttC>ttT p.F3F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US X 13337636 13337636 single base substitution G T missense_variant P140T 418C>A BRCA-EU X 13334689 13334689 deletion of <=200bp C - downstream_gene_variant BRCA-EU X 13335778 13335778 single base substitution A G downstream_gene_variant BRCA-EU X 13335830 13335830 single base substitution G A downstream_gene_variant BRCA-EU X 13337869 13337869 single base substitution A G missense_variant L62S 185T>C BRCA-EU X 13339972 13339972 insertion of <=200bp - T upstream_gene_variant BRCA-EU X 13340986 13340986 single base substitution G A upstream_gene_variant BRCA-EU X 13341446 13341446 deletion of <=200bp A - upstream_gene_variant BRCA-EU X 13342097 13342097 single base substitution C G upstream_gene_variant BRCA-EU X 13342772 13342772 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 13343453 13343453 single base substitution A T upstream_gene_variant BRCA-UK X 13343453 13343453 single base substitution A T upstream_gene_variant BRCA-US X 13337012 13337012 single base substitution T A missense_variant N348Y 1042A>T BRCA-US X 13337695 13337695 single base substitution C A missense_variant W120L 359G>T BRCA-US X 13337899 13337899 single base substitution C T missense_variant G52E 155G>A BTCA-JP X 13337315 13337315 single base substitution G A missense_variant L247F 739C>T BTCA-JP X 13337845 13337845 single base substitution T G missense_variant D70A 209A>C CESC-US X 13337013 13337013 single base substitution C A missense_variant K347N 1041G>T CESC-US X 13337060 13337060 single base substitution C G missense_variant G332R 994G>C CESC-US X 13337277 13337277 single base substitution G A synonymous_variant S259S 777C>T CESC-US X 13337387 13337387 single base substitution C G missense_variant D223H 667G>C CLLE-ES X 13335561 13335561 single base substitution C T downstream_gene_variant COAD-US X 13337059 13337059 single base substitution C T missense_variant G332D 995G>A COAD-US X 13337115 13337115 single base substitution C T synonymous_variant R313R 939G>A COAD-US X 13337468 13337468 single base substitution A T missense_variant L196I 586T>A COAD-US X 13337505 13337505 single base substitution G A synonymous_variant V183V 549C>T COAD-US X 13337915 13337915 single base substitution T C missense_variant R47G 139A>G KIRP-US X 13337247 13337248 deletion of <=200bp TG - frameshift_variant T269 LGG-US X 13337542 13337542 single base substitution T C missense_variant D171G 512A>G LICA-CN X 13337391 13337391 single base substitution T G synonymous_variant T221T 663A>C LIHC-US X 13337139 13337139 single base substitution G T synonymous_variant G305G 915C>A LIRI-JP X 13331862 13331862 single base substitution C T downstream_gene_variant LIRI-JP X 13333548 13333563 deletion of <=200bp TTGACTCCCACAGTGA - downstream_gene_variant LIRI-JP X 13336981 13336981 single base substitution A T 3_prime_UTR_variant LIRI-JP X 13340184 13340184 single base substitution A G upstream_gene_variant LIRI-JP X 13342669 13342669 single base substitution A G upstream_gene_variant LIRI-JP X 13343417 13343417 single base substitution A G upstream_gene_variant LUSC-US X 13337077 13337077 single base substitution C G missense_variant S326T 977G>C LUSC-US X 13337087 13337087 single base substitution T C missense_variant S323G 967A>G LUSC-US X 13337109 13337109 single base substitution T C synonymous_variant T315T 945A>G LUSC-US X 13337594 13337594 single base substitution G A stop_gained R154* 460C>T MALY-DE X 13334690 13334690 insertion of <=200bp - T downstream_gene_variant MALY-DE X 13342777 13342777 single base substitution T G upstream_gene_variant MELA-AU X 13331870 13331870 single base substitution G A downstream_gene_variant MELA-AU X 13332008 13332008 single base substitution G A downstream_gene_variant MELA-AU X 13332058 13332058 single base substitution T C downstream_gene_variant MELA-AU X 13332093 13332093 single base substitution C T downstream_gene_variant MELA-AU X 13332253 13332253 single base substitution C T downstream_gene_variant MELA-AU X 13332503 13332503 single base substitution C T downstream_gene_variant MELA-AU X 13332524 13332524 single base substitution G A downstream_gene_variant MELA-AU X 13332700 13332700 single base substitution A C downstream_gene_variant MELA-AU X 13332750 13332750 single base substitution C T downstream_gene_variant MELA-AU X 13332846 13332846 single base substitution C G downstream_gene_variant MELA-AU X 13332906 13332906 single base substitution G A downstream_gene_variant MELA-AU X 13332964 13332964 single base substitution G A downstream_gene_variant MELA-AU X 13333313 13333313 single base substitution G A downstream_gene_variant MELA-AU X 13333485 13333485 single base substitution G A downstream_gene_variant MELA-AU X 13333588 13333588 single base substitution G A downstream_gene_variant MELA-AU X 13333810 13333810 single base substitution C T downstream_gene_variant MELA-AU X 13333904 13333904 single base substitution C T downstream_gene_variant MELA-AU X 13334019 13334019 single base substitution C T downstream_gene_variant MELA-AU X 13334237 13334237 single base substitution G A downstream_gene_variant MELA-AU X 13334300 13334300 single base substitution G A downstream_gene_variant MELA-AU X 13334381 13334381 single base substitution G A downstream_gene_variant MELA-AU X 13334484 13334484 single base substitution G A downstream_gene_variant MELA-AU X 13334501 13334501 single base substitution G A downstream_gene_variant MELA-AU X 13334544 13334545 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU X 13334655 13334655 single base substitution G A downstream_gene_variant MELA-AU X 13334676 13334676 single base substitution C T downstream_gene_variant MELA-AU X 13334848 13334848 single base substitution C G downstream_gene_variant MELA-AU X 13334884 13334884 single base substitution C T downstream_gene_variant MELA-AU X 13335097 13335097 single base substitution T C downstream_gene_variant MELA-AU X 13335300 13335300 single base substitution C T downstream_gene_variant MELA-AU X 13335351 13335351 deletion of <=200bp T - downstream_gene_variant MELA-AU X 13335464 13335464 single base substitution G A downstream_gene_variant MELA-AU X 13335528 13335528 single base substitution G A downstream_gene_variant MELA-AU X 13335811 13335811 single base substitution G A downstream_gene_variant MELA-AU X 13335842 13335842 single base substitution G A downstream_gene_variant MELA-AU X 13335848 13335848 single base substitution C T downstream_gene_variant MELA-AU X 13336117 13336117 single base substitution C G downstream_gene_variant MELA-AU X 13336210 13336210 single base substitution G A downstream_gene_variant MELA-AU X 13336329 13336329 single base substitution A C downstream_gene_variant MELA-AU X 13337101 13337101 single base substitution G A missense_variant S318L 953C>T MELA-AU X 13337120 13337120 single base substitution C T missense_variant E312K 934G>A MELA-AU X 13337192 13337192 single base substitution C T missense_variant E288K 862G>A MELA-AU X 13337372 13337372 single base substitution C T missense_variant D228N 682G>A MELA-AU X 13337722 13337722 single base substitution G A missense_variant S111F 332C>T MELA-AU X 13337815 13337815 single base substitution A T missense_variant I80K 239T>A MELA-AU X 13337902 13337902 single base substitution C T missense_variant G51E 152G>A MELA-AU X 13337998 13337999 multiple base substitution (>=2bp and <=200bp) AG TC missense_variant L19E 55CT>GA MELA-AU X 13338294 13338294 single base substitution G A 5_prime_UTR_variant MELA-AU X 13338741 13338741 single base substitution C T upstream_gene_variant MELA-AU X 13339205 13339205 single base substitution C A upstream_gene_variant MELA-AU X 13339407 13339407 single base substitution G A upstream_gene_variant MELA-AU X 13339568 13339568 single base substitution G A upstream_gene_variant MELA-AU X 13339845 13339845 single base substitution G A upstream_gene_variant MELA-AU X 13339857 13339857 single base substitution G A upstream_gene_variant MELA-AU X 13340308 13340308 single base substitution C T upstream_gene_variant MELA-AU X 13340357 13340357 single base substitution G A upstream_gene_variant MELA-AU X 13340657 13340657 single base substitution G A upstream_gene_variant MELA-AU X 13340764 13340765 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU X 13341049 13341049 single base substitution T C upstream_gene_variant MELA-AU X 13341360 13341360 single base substitution C T upstream_gene_variant MELA-AU X 13341382 13341382 single base substitution C T upstream_gene_variant MELA-AU X 13341400 13341400 single base substitution C T upstream_gene_variant MELA-AU X 13341411 13341411 single base substitution G A upstream_gene_variant MELA-AU X 13341609 13341609 single base substitution C T upstream_gene_variant MELA-AU X 13341717 13341717 single base substitution T G upstream_gene_variant MELA-AU X 13342036 13342036 single base substitution C T upstream_gene_variant MELA-AU X 13342143 13342143 single base substitution G A upstream_gene_variant MELA-AU X 13342242 13342242 single base substitution C T upstream_gene_variant MELA-AU X 13342436 13342436 single base substitution C T upstream_gene_variant MELA-AU X 13342447 13342447 single base substitution C T upstream_gene_variant MELA-AU X 13342604 13342604 single base substitution A T upstream_gene_variant MELA-AU X 13342773 13342773 single base substitution T A upstream_gene_variant MELA-AU X 13342936 13342936 single base substitution C G upstream_gene_variant MELA-AU X 13343213 13343213 single base substitution C T upstream_gene_variant MELA-AU X 13343464 13343464 single base substitution G A upstream_gene_variant MELA-AU X 13343485 13343485 single base substitution G A upstream_gene_variant OV-AU X 13333993 13333993 single base substitution G T downstream_gene_variant OV-AU X 13335745 13335745 single base substitution G T downstream_gene_variant OV-AU X 13340841 13340841 single base substitution G C upstream_gene_variant OV-US X 13337344 13337344 single base substitution C T missense_variant R237H 710G>A OV-US X 13337616 13337616 single base substitution T G synonymous_variant T146T 438A>C PACA-AU X 13336525 13336525 single base substitution A T downstream_gene_variant PACA-CA X 13332547 13332547 deletion of <=200bp G - downstream_gene_variant PACA-CA X 13334803 13334803 single base substitution G A downstream_gene_variant PACA-CA X 13335979 13335979 single base substitution C T downstream_gene_variant PACA-CA X 13338067 13338067 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA X 13340700 13340700 single base substitution T A upstream_gene_variant PACA-CA X 13342088 13342088 single base substitution G T upstream_gene_variant PACA-CA X 13343221 13343221 single base substitution C G upstream_gene_variant PAEN-AU X 13332978 13332978 single base substitution T C downstream_gene_variant PBCA-DE X 13332262 13332262 single base substitution C A downstream_gene_variant PBCA-DE X 13335964 13335964 single base substitution T C downstream_gene_variant PRAD-CA X 13333145 13333145 single base substitution G A downstream_gene_variant PRAD-UK X 13332503 13332503 single base substitution C T downstream_gene_variant PRAD-US X 13337265 13337265 single base substitution C T synonymous_variant S263S 789G>A READ-US X 13337101 13337101 single base substitution G A missense_variant S318L 953C>T READ-US X 13337603 13337603 single base substitution A C missense_variant F151V 451T>G RECA-EU X 13337333 13337333 single base substitution T A missense_variant N241Y 721A>T SKCA-BR X 13332234 13332234 single base substitution G C downstream_gene_variant SKCA-BR X 13333324 13333324 single base substitution C T downstream_gene_variant SKCA-BR X 13334983 13334983 single base substitution G A downstream_gene_variant SKCA-BR X 13335614 13335614 single base substitution A T downstream_gene_variant SKCA-BR X 13335667 13335667 single base substitution C T downstream_gene_variant SKCA-BR X 13337496 13337496 single base substitution C T missense_variant M186I 558G>A SKCA-BR X 13338498 13338498 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR X 13340598 13340598 single base substitution G A upstream_gene_variant SKCM-US X 13337048 13337048 single base substitution C T missense_variant A336T 1006G>A SKCM-US X 13337192 13337192 single base substitution C T missense_variant E288K 862G>A SKCM-US X 13337352 13337352 single base substitution T C synonymous_variant E234E 702A>G SKCM-US X 13337364 13337364 single base substitution C T synonymous_variant Q230Q 690G>A SKCM-US X 13337902 13337902 single base substitution C T missense_variant G51E 152G>A SKCM-US X 13338045 13338045 single base substitution G A synonymous_variant F3F 9C>T STAD-US X 13337200 13337200 single base substitution T A missense_variant D285V 854A>T STAD-US X 13337235 13337235 single base substitution A C synonymous_variant T273T 819T>G STAD-US X 13337421 13337421 deletion of <=200bp T - frameshift_variant K211 STAD-US X 13337424 13337424 single base substitution T C synonymous_variant E210E 630A>G STAD-US X 13337535 13337535 single base substitution T G missense_variant E173D 519A>C STAD-US X 13337597 13337597 single base substitution C T missense_variant A153T 457G>A THCA-SA X 13337115 13337115 single base substitution C T synonymous_variant R313R 939G>A THCA-SA X 13337505 13337505 single base substitution G A synonymous_variant V183V 549C>T UCEC-US X 13337039 13337039 single base substitution C T missense_variant D339N 1015G>A UCEC-US X 13337040 13337040 single base substitution G A synonymous_variant V338V 1014C>T UCEC-US X 13337101 13337101 single base substitution G A missense_variant S318L 953C>T UCEC-US X 13337195 13337195 single base substitution A C missense_variant F287V 859T>G UCEC-US X 13337217 13337217 single base substitution C T synonymous_variant P279P 837G>A UCEC-US X 13337650 13337650 single base substitution G A missense_variant S135F 404C>T UCEC-US X 13337838 13337838 single base substitution G T synonymous_variant T72T 216C>A UCEC-US X 13337985 13337985 single base substitution C T synonymous_variant L23L 69G>A UCEC-US X 13338018 13338018 single base substitution G A synonymous_variant F12F 36C>T UCEC-US X 13338020 13338020 single base substitution A G missense_variant F12L 34T>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B0-5099-01 COSM487984 c.1057G>T p.G353W Substitution - Missense 23:13318878-13318878 - TCGA-DU-8168-01 COSM3973270 c.512A>G p.D171G Substitution - Missense 23:13319423-13319423 - SNU-175 COSM1465720 c.549C>T p.V183V Substitution - coding silent 23:13319386-13319386 - pfg127T COSM4746700 c.619delA p.T207fs*29 Deletion - Frameshift 23:13319316-13319316 - TCGA-AM-5820-01 COSM3759363 c.995G>A p.G332D Substitution - Missense 23:13318940-13318940 - TCGA-AX-A0J0-01 COSM1115430 c.34T>C p.F12L Substitution - Missense 23:13319901-13319901 - 2277219 COSM4422844 c.743G>A p.R248H Substitution - Missense 23:13319192-13319192 - PTC-7C COSM4156593 c.260G>T p.W87L Substitution - Missense 23:13319675-13319675 - TCGA-F5-6814-01 COSM3424476 c.451T>G p.F151V Substitution - Missense 23:13319484-13319484 - TCGA-F5-6814-01 COSM274105 c.953C>T p.S318L Substitution - Missense 23:13318982-13318982 - TCGA-AM-5820-01 COSM3759364 c.939G>A p.R313R Substitution - coding silent 23:13318996-13318996 - BK0090 COSM4188749 c.973C>A p.L325I Substitution - Missense 23:13318962-13318962 - QC2-12-T2 COSM5652402 c.83T>A p.F28Y Substitution - Missense 23:13319852-13319852 - BD239T COSM5497341 c.739C>T p.L247F Substitution - Missense 23:13319196-13319196 - PTC_516 COSM1465720 c.549C>T p.V183V Substitution - coding silent 23:13319386-13319386 - TCGA-F1-A448-01 COSM2726696 c.457G>A p.A153T Substitution - Missense 23:13319478-13319478 - SC_9055 COSM5553145 c.755A>G p.E252G Substitution - Missense 23:13319180-13319180 - TCGA-BS-A0UV-01 COSM1115429 c.36C>T p.F12F Substitution - coding silent 23:13319899-13319899 - TCGA-EE-A2M5-06 COSM3913398 c.862G>A p.E288K Substitution - Missense 23:13319073-13319073 - Pat_41_B COSM5877116 c.101C>T p.A34V Substitution - Missense 23:13319834-13319834 - BZ12 COSM5758209 c.156A>G p.G52G Substitution - coding silent 23:13319779-13319779 - TCGA-AA-3818-01 COSM270811 c.355C>G p.H119D Substitution - Missense 23:13319580-13319580 - TCGA-AA-3713-01 COSM1465727 c.139A>G p.R47G Substitution - Missense 23:13319796-13319796 - TCGA-FU-A3HZ-01 COSM4839685 c.1041G>T p.K347N Substitution - Missense 23:13318894-13318894 - T3048 COSM4664716 c.979G>T p.D327Y Substitution - Missense 23:13318956-13318956 - TCGA-13-1489-01 COSM73788 c.710G>A p.R237H Substitution - Missense 23:13319225-13319225 - TCGA-37-3783-01 COSM755302 c.977G>C p.S326T Substitution - Missense 23:13318958-13318958 - TCGA-AX-A05Z-01 COSM274105 c.953C>T p.S318L Substitution - Missense 23:13318982-13318982 - TCGA-AP-A059-01 COSM1115428 c.69G>A p.L23L Substitution - coding silent 23:13319866-13319866 - LUAD-E01278 COSM403534 c.414G>C p.A138A Substitution - coding silent 23:13319521-13319521 - T3091 COSM4664717 c.734A>G p.E245G Substitution - Missense 23:13319201-13319201 - T36 COSM4664718 c.722A>C p.N241T Substitution - Missense 23:13319213-13319213 - TCGA-EB-A24D-01 COSM3558090 c.690G>A p.Q230Q Substitution - coding silent 23:13319245-13319245 - TCGA-CK-4952-01 COSM1465720 c.549C>T p.V183V Substitution - coding silent 23:13319386-13319386 - TCGA-DD-A1EB-01 COSM4928772 c.915C>A p.G305G Substitution - coding silent 23:13319020-13319020 - TCGA-34-5240-01 COSM755301 c.967A>G p.S323G Substitution - Missense 23:13318968-13318968 - TCGA-EJ-5518-01 COSM1132403 c.789G>A p.S263S Substitution - coding silent 23:13319146-13319146 - TCGA-AX-A0J0-01 COSM259168 c.1015G>A p.D339N Substitution - Missense 23:13318920-13318920 - TCGA-EE-A3JI-06 COSM3558096 c.9C>T p.F3F Substitution - coding silent 23:13319926-13319926 - TCGA-AG-4015-01 COSM259168 c.1015G>A p.D339N Substitution - Missense 23:13318920-13318920 - LUAD-F00162 COSM366749 c.911C>A p.P304Q Substitution - Missense 23:13319024-13319024 - LS-1034 COSM25511 c.934G>A p.E312K Substitution - Missense 23:13319001-13319001 - TCGA-24-1847-01 COSM1331244 c.76G>C p.E26Q Substitution - Missense 23:13319859-13319859 - Pat_34_A COSM5877115 c.461G>A p.R154Q Substitution - Missense 23:13319474-13319474 - SNU-C2B COSM2726693 c.709C>T p.R237C Substitution - Missense 23:13319226-13319226 - 86507 COSM93920 c.259T>A p.W87R Substitution - Missense 23:13319676-13319676 - TCGA-C5-A2M2-01 COSM4837657 c.777C>T p.S259S Substitution - coding silent 23:13319158-13319158 - EGC3 COSM5064390 c.209A>G p.D70G Substitution - Missense 23:13319726-13319726 - TCGA-EE-A3AA-06 COSM3558092 c.152G>A p.G51E Substitution - Missense 23:13319783-13319783 - BD152T COSM5506559 c.209A>C p.D70A Substitution - Missense 23:13319726-13319726 - TCGA-BR-6452-01 COSM4106759 c.854A>T p.D285V Substitution - Missense 23:13319081-13319081 - TCGA-C8-A12K-01 COSM456776 c.359G>T p.W120L Substitution - Missense 23:13319576-13319576 - SNUH_G73_S1 COSM3759363 c.995G>A p.G332D Substitution - Missense 23:13318940-13318940 - CSCC-18-T COSM4453323 c.278A>G p.H93R Substitution - Missense 23:13319657-13319657 - T3024 COSM4664720 c.534G>A p.L178L Substitution - coding silent 23:13319401-13319401 - TCGA-AA-A00N-01 COSM274105 c.953C>T p.S318L Substitution - Missense 23:13318982-13318982 - T263 COSM4664715 c.980A>G p.D327G Substitution - Missense 23:13318955-13318955 - LUAD-S01405 COSM404560 c.537G>T p.Q179H Substitution - Missense 23:13319398-13319398 - YUKAT COSM2726728 c.28G>A p.E10K Substitution - Missense 23:13319907-13319907 - TCGA-A5-A0GW-01 COSM1115413 c.293A>G p.E98G Substitution - Missense 23:13319642-13319642 - PT53 COSM3759363 c.995G>A p.G332D Substitution - Missense 23:13318940-13318940 - TCGA-HU-A4H3-01 COSM4106760 c.819T>G p.T273T Substitution - coding silent 23:13319116-13319116 - MZ7-mel COSM25591 c.543C>T p.I181I Substitution - coding silent 23:13319392-13319392 - 86501 COSM93919 c.1012G>T p.V338F Substitution - Missense 23:13318923-13318923 - SNU-175 COSM2726729 c.2T>C p.M1T Substitution - Missense 23:13319933-13319933 - CSCC-7-T COSM4479045 c.228C>T p.S76S Substitution - coding silent 23:13319707-13319707 - TCGA-39-5030-01 COSM755299 c.460C>T p.R154* Substitution - Nonsense 23:13319475-13319475 - TCGA-CM-5861-01 COSM1465718 c.586T>A p.L196I Substitution - Missense 23:13319349-13319349 - TCGA-AG-A002-01 COSM259584 c.453C>A p.F151L Substitution - Missense 23:13319482-13319482 - TCGA-EE-A29V-06 COSM3558089 c.702A>G p.E234E Substitution - coding silent 23:13319233-13319233 - TCGA-13-0791-01 COSM80903 c.438A>C p.T146T Substitution - coding silent 23:13319497-13319497 - TCGA-GN-A26C-01 COSM3558088 c.1006G>A p.A336T Substitution - Missense 23:13318929-13318929 - HCC2998 COSM2726709 c.140G>T p.R47I Substitution - Missense 23:13319795-13319795 - S00825 COSM5659339 c.925T>C p.Y309H Substitution - Missense 23:13319010-13319010 - TCGA-AC-A3YJ-01 COSM3843623 c.155G>A p.G52E Substitution - Missense 23:13319780-13319780 - HCC094T COSM5806592 c.663A>C p.T221T Substitution - coding silent 23:13319272-13319272 - TCGA-B5-A11E-01 COSM1115412 c.404C>T p.S135F Substitution - Missense 23:13319531-13319531 - YUGURT COSM5412038 c.682G>C p.D228H Substitution - Missense 23:13319253-13319253 - T3080 COSM4664719 c.548T>C p.V183A Substitution - Missense 23:13319387-13319387 - TCGA-EK-A2PG-01 COSM4819328 c.667G>C p.D223H Substitution - Missense 23:13319268-13319268 - TCGA-DK-A1A5-01 COSM422227 c.418C>A p.P140T Substitution - Missense 23:13319517-13319517 - TCGA-34-5929-01 COSM755300 c.945A>G p.T315T Substitution - coding silent 23:13318990-13318990 - TCGA-A5-A0GP-01 COSM1115410 c.859T>G p.F287V Substitution - Missense 23:13319076-13319076 - TCGA-B7-5818-01 COSM4106762 c.519A>C p.E173D Substitution - Missense 23:13319416-13319416 - TCGA-BG-A0MQ-01 COSM1115409 c.1014C>T p.V338V Substitution - coding silent 23:13318921-13318921 - TCGA-A7-A0CG-01 COSM456775 c.1042A>T p.N348Y Substitution - Missense 23:13318893-13318893 - 61 COSM5742203 c.1044T>A p.N348K Substitution - Missense 23:13318891-13318891 - TCGA-IR-A3LH-01 COSM4833367 c.994G>C p.G332R Substitution - Missense 23:13318941-13318941 - C086 COSM5527202 c.882G>A p.Q294Q Substitution - coding silent 23:13319053-13319053 - TCGA-BS-A0TE-01 COSM1115414 c.216C>A p.T72T Substitution - coding silent 23:13319719-13319719 - C0031T COSM4154844 c.721A>T p.N241Y Substitution - Missense 23:13319214-13319214 - 07_16582 COSM1644419 c.130G>A p.E44K Substitution - Missense 23:13319805-13319805 - ME100L COSM25511 c.934G>A p.E312K Substitution - Missense 23:13319001-13319001 - 041T COSM1729588 c.185T>A p.L62* Substitution - Nonsense 23:13319750-13319750 - TCGA-AX-A0J0-01 COSM1115411 c.837G>A p.P279P Substitution - coding silent 23:13319098-13319098 - TCGA-BR-6452-01 COSM4106761 c.630A>G p.E210E Substitution - coding silent 23:13319305-13319305 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.382630;Hs.382641 Xp22.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F287V c.859T>G X 13337195 UCEC A T 3-UTRSNV . c.1065+8T>A X 13336981 HC C A Missense p.W120L c.359G>T X 13337695 BRCA C G Missense p.E218Q c.652G>C X 13337402 LUAD C G Missense p.S326T c.977G>C X 13337077 LUSC C T Missense p.A336T c.1006G>A X 13337048 CM C T Missense p.D339N c.1015G>A X 13337039 COREAD C T Missense p.E109K c.325G>A X 13337729 CM C T Missense p.E288K c.862G>A X 13337192 CM C T Missense p.G51E c.152G>A X 13337902 CM C T Missense p.R237H c.710G>A X 13337344 OV C T Synonymous p.Q230Q c.690G>A X 13337364 CM C T Synonymous p.S263S c.789G>A X 13337265 PRAD G A Missense p.L209F c.625C>T X 13337429 CM G A Nonsense p.R154* c.460C>T X 13337594 LUSC G A Synonymous p.F3F c.9C>T X 13338045 CM G A Synonymous p.V338V c.1014C>T X 13337040 UCEC G C Missense p.H119D c.355C>G X 13337699 COREAD G T Missense p.P140T c.418C>A X 13337636 BLCA G T Missense p.S219Y c.656C>A X 13337398 LUAD G T Synonymous p.A336A c.1008C>A X 13337046 LUAD G T Synonymous p.T72T c.216C>A X 13337838 UCEC T A Missense p.N348Y c.1042A>T X 13337012 BRCA T C Missense p.D171G c.512A>G X 13337542 LGG T C Missense p.S323G c.967A>G X 13337087 LUSC T C Synonymous p.E234E c.702A>G X 13337352 CM T C Synonymous p.T315T c.945A>G X 13337109 LUSC - T Frameshift p.L196Ifs*8 c.585dupA X 13337469 HNSC T G Missense p.E173D c.519A>C X 13337535 STAD T G Synonymous p.T146T c.438A>C X 13337616 OV